C2CD3 (C2 domain containing 3 centriole elongation regulator) - 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 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: C2CD3 (C2 domain containing 3 centriole elongation regulator) Homo sapiens
Analyze
Symbol: C2CD3
Name: C2 domain containing 3 centriole elongation regulator
RGD ID: 1607065
HGNC Page HGNC:24564
Description: Involved in centriole elongation; non-motile cilium assembly; and protein localization to centrosome. Located in centriolar satellite and centriole. Implicated in orofaciodigital syndrome XIV.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: C2 calcium dependent domain containing 3; C2 calcium-dependent domain containing 3; C2 domain-containing protein 3; DKFZp586P0123; FLJ34770; OFD14
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381174,012,718 - 74,171,002 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1174,012,718 - 74,171,210 (-)EnsemblGRCh38hg38GRCh38
GRCh371173,723,763 - 73,882,047 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361173,423,128 - 73,559,712 (-)NCBINCBI36Build 36hg18NCBI36
Celera1171,052,284 - 71,188,859 (-)NCBICelera
Cytogenetic Map11q13.4NCBI
HuRef1170,041,381 - 70,177,322 (-)NCBIHuRef
CHM1_11173,629,333 - 73,766,320 (-)NCBICHM1_1
T2T-CHM13v2.01173,942,048 - 74,100,346 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal facial shape  (IAGP)
Abnormal myelination  (IAGP)
Absent speech  (IAGP)
Accessory oral frenulum  (IAGP)
Agenesis of corpus callosum  (IAGP)
Anteriorly placed anus  (IAGP)
Aplasia of the epiglottis  (IAGP)
Atrial septal defect  (IAGP)
Autosomal recessive inheritance  (IAGP)
Bifid tongue  (IAGP)
Bilateral cryptorchidism  (IAGP)
Broad hallux  (IAGP)
Bulbous nose  (IAGP)
Cerebellar hypoplasia  (IAGP)
Cerebellar vermis hypoplasia  (IAGP)
Cleft lip  (IAGP)
Cleft palate  (IAGP)
CNS hypomyelination  (IAGP)
Congenital onset  (IAGP)
Cryptorchidism  (IAGP)
Dandy-Walker malformation  (IAGP)
Deviation of the hallux  (IAGP)
Dilated fourth ventricle  (IAGP)
Dilated third ventricle  (IAGP)
Duplication of phalanx of hallux  (IAGP)
Epispadias  (IAGP)
Gastrostomy tube feeding in infancy  (IAGP)
Generalized hypotonia  (IAGP)
Global developmental delay  (IAGP)
Hamartoma of tongue  (IAGP)
Holoprosencephaly  (IAGP)
Hypoplasia of the corpus callosum  (IAGP)
Hypotonia  (IAGP)
Intellectual disability  (IAGP)
Intellectual disability, severe  (IAGP)
Lobulated tongue  (IAGP)
Low-set ears  (IAGP)
Microcephaly  (IAGP)
Micrognathia  (IAGP)
Micropenis  (IAGP)
Microretrognathia  (IAGP)
Molar tooth sign on MRI  (IAGP)
Natal tooth  (IAGP)
Occipital encephalocele  (IAGP)
Open operculum  (IAGP)
Optic disc coloboma  (IAGP)
Partial agenesis of the corpus callosum  (IAGP)
Patent ductus arteriosus  (IAGP)
Periventricular heterotopia  (IAGP)
Polymicrogyria  (IAGP)
Postaxial foot polydactyly  (IAGP)
Postaxial hand polydactyly  (IAGP)
Posteriorly rotated ears  (IAGP)
Preaxial polydactyly  (IAGP)
Retinal coloboma  (IAGP)
Retinitis  (IAGP)
Rudimentary fibula  (IAGP)
Short neck  (IAGP)
Short ribs  (IAGP)
Simplified gyral pattern  (IAGP)
Sleep apnea  (IAGP)
Sloping forehead  (IAGP)
Supernumerary tooth  (IAGP)
Telecanthus  (IAGP)
Trigonocephaly  (IAGP)
Unilateral renal hypoplasia  (IAGP)
Upslanted palpebral fissure  (IAGP)
Ventricular septal defect  (IAGP)
Webbed neck  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
2. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
4. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:12477932   PMID:14702039   PMID:16344560   PMID:19004860   PMID:20301500   PMID:21399614   PMID:21873635   PMID:22807096   PMID:22983010   PMID:23769972   PMID:24469809   PMID:24613305  
PMID:24997988   PMID:25011556   PMID:25013050   PMID:25281560   PMID:25412110   PMID:26496610   PMID:26638075   PMID:27094867   PMID:27146717   PMID:27880917   PMID:28718761   PMID:29117863  
PMID:29507755   PMID:30021884   PMID:30097616   PMID:30258116   PMID:30988386   PMID:31586073   PMID:32908313   PMID:34079125   PMID:34349018   PMID:34732716   PMID:35319462   PMID:35575683  
PMID:35748872   PMID:36674791   PMID:36931259  


Genomics

Comparative Map Data
C2CD3
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381174,012,718 - 74,171,002 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1174,012,718 - 74,171,210 (-)EnsemblGRCh38hg38GRCh38
GRCh371173,723,763 - 73,882,047 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361173,423,128 - 73,559,712 (-)NCBINCBI36Build 36hg18NCBI36
Celera1171,052,284 - 71,188,859 (-)NCBICelera
Cytogenetic Map11q13.4NCBI
HuRef1170,041,381 - 70,177,322 (-)NCBIHuRef
CHM1_11173,629,333 - 73,766,320 (-)NCBICHM1_1
T2T-CHM13v2.01173,942,048 - 74,100,346 (-)NCBIT2T-CHM13v2.0
C2cd3
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm397100,021,440 - 100,119,366 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl7100,021,440 - 100,119,359 (+)EnsemblGRCm39 Ensembl
GRCm387100,372,229 - 100,470,159 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl7100,372,233 - 100,470,152 (+)EnsemblGRCm38mm10GRCm38
MGSCv377107,520,743 - 107,618,668 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv367100,248,501 - 100,344,232 (+)NCBIMGSCv36mm8
Celera7100,709,229 - 100,807,748 (+)NCBICelera
Cytogenetic Map7E2NCBI
cM Map754.35NCBI
C2cd3
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81164,127,304 - 164,225,088 (+)NCBIGRCr8
mRatBN7.21154,715,151 - 154,812,955 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1154,715,310 - 154,812,520 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1162,709,885 - 162,807,531 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01169,889,987 - 169,987,632 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01162,763,942 - 162,861,529 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01165,382,279 - 165,480,088 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1165,382,690 - 165,479,655 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01171,583,008 - 171,680,742 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41157,774,397 - 157,892,744 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11157,853,000 - 157,955,514 (+)NCBI
Celera1152,799,056 - 152,895,063 (+)NCBICelera
Cytogenetic Map1q32NCBI
C2cd3
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541417,444,515 - 17,558,245 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495541417,444,299 - 17,557,912 (+)NCBIChiLan1.0ChiLan1.0
C2CD3
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2974,954,310 - 75,113,879 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11175,998,226 - 76,157,932 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01169,085,434 - 69,244,791 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11172,392,606 - 72,551,620 (-)NCBIpanpan1.1PanPan1.1panPan2
C2CD3
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12124,127,390 - 24,272,473 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2124,127,598 - 24,272,657 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2123,892,149 - 24,042,850 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02124,330,910 - 24,481,957 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2124,331,191 - 24,479,277 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12124,127,093 - 24,274,828 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02124,326,702 - 24,477,415 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02124,241,941 - 24,392,962 (+)NCBIUU_Cfam_GSD_1.0
C2cd3
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494761,499,810 - 61,642,747 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049364983,099,396 - 3,242,335 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049364983,099,419 - 3,242,334 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
C2CD3
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl98,393,612 - 8,512,848 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.198,393,610 - 8,512,843 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.299,289,856 - 9,349,672 (-)NCBISscrofa10.2Sscrofa10.2susScr3
C2CD3
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1165,282,311 - 65,436,007 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl165,282,318 - 65,435,834 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604360,428,341 - 60,584,199 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
C2cd3
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248172,880,976 - 3,042,004 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248172,880,775 - 3,060,399 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in C2CD3
850 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001286577.2(C2CD3):c.917T>C (p.Leu306Pro) single nucleotide variant Corpus callosum, agenesis of [RCV000735372]|not provided [RCV003768257] Chr11:74138758 [GRCh38]
Chr11:73849803 [GRCh37]
Chr11:11q13.4		 likely benign|uncertain significance
GRCh38/hg38 11q13.4-14.1(chr11:71923251-79662025)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052684]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052684]|See cases [RCV000052684] Chr11:71923251..79662025 [GRCh38]
Chr11:71634297..79373069 [GRCh37]
Chr11:71311945..79050717 [NCBI36]
Chr11:11q13.4-14.1		 pathogenic
GRCh38/hg38 11q13.4-13.5(chr11:71928796-77064521)x1 copy number loss See cases [RCV000052708] Chr11:71928796..77064521 [GRCh38]
Chr11:71639842..76751808 [GRCh37]
Chr11:71317490..76453216 [NCBI36]
Chr11:11q13.4-13.5		 pathogenic
GRCh38/hg38 11q13.4-14.1(chr11:71969881-78232895)x1 copy number loss See cases [RCV000052709] Chr11:71969881..78232895 [GRCh38]
Chr11:71680927..77943941 [GRCh37]
Chr11:71358575..77621589 [NCBI36]
Chr11:11q13.4-14.1		 pathogenic
NM_015531.5(C2CD3):c.4044C>T (p.Gly1348=) single nucleotide variant Malignant melanoma [RCV000069685] Chr11:74078674 [GRCh38]
Chr11:73789719 [GRCh37]
Chr11:73467367 [NCBI36]
Chr11:11q13.4		 not provided
NM_015531.5(C2CD3):c.5357C>T (p.Ser1786Leu) single nucleotide variant Malignant melanoma [RCV000062349] Chr11:74049341 [GRCh38]
Chr11:73760386 [GRCh37]
Chr11:73438034 [NCBI36]
Chr11:11q13.4		 not provided
NM_001286577.2(C2CD3):c.6968G>A (p.Arg2323His) single nucleotide variant Orofaciodigital syndrome type 14 [RCV000662153]|not provided [RCV001855401] Chr11:74013479 [GRCh38]
Chr11:73724524 [GRCh37]
Chr11:11q13.4		 likely benign|uncertain significance
NM_001286577.2(C2CD3):c.5267G>A (p.Gly1756Glu) single nucleotide variant Familial aplasia of the vermis [RCV000201697]|Jeune thoracic dystrophy [RCV000754955] Chr11:74049431 [GRCh38]
Chr11:73760476 [GRCh37]
Chr11:11q13.4		 pathogenic|uncertain significance
NM_001286577.2(C2CD3):c.4951+1G>T single nucleotide variant Familial aplasia of the vermis [RCV000201782] Chr11:74074252 [GRCh38]
Chr11:73785297 [GRCh37]
Chr11:11q13.4		 pathogenic|likely pathogenic
NM_001286577.2(C2CD3):c.184C>T (p.Arg62Ter) single nucleotide variant Familial aplasia of the vermis [RCV000201616]|Orofaciodigital syndrome type 14 [RCV000133545] Chr11:74168485 [GRCh38]
Chr11:73879530 [GRCh37]
Chr11:11q13.4		 pathogenic
NM_001286577.2(C2CD3):c.3085T>G (p.Cys1029Gly) single nucleotide variant Orofaciodigital syndrome type 14 [RCV000133546] Chr11:74095303 [GRCh38]
Chr11:73806348 [GRCh37]
Chr11:11q13.4		 pathogenic
NM_001286577.2(C2CD3):c.3911-2A>T single nucleotide variant Orofaciodigital syndrome type 14 [RCV000133547]|not provided [RCV001849965] Chr11:74084972 [GRCh38]
Chr11:73796017 [GRCh37]
Chr11:11q13.4		 pathogenic|likely pathogenic
GRCh38/hg38 11q13.4(chr11:73574925-74133379)x3 copy number gain See cases [RCV000134027] Chr11:73574925..74133379 [GRCh38]
Chr11:73285970..73844424 [GRCh37]
Chr11:72963618..73522072 [NCBI36]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.5090+5G>C single nucleotide variant Orofaciodigital syndrome type 14 [RCV000766222] Chr11:74057401 [GRCh38]
Chr11:73768446 [GRCh37]
Chr11:11q13.4		 pathogenic
NM_001286577.2(C2CD3):c.3695A>G (p.Asn1232Ser) single nucleotide variant C2CD3-related disorder [RCV003977637]|not provided [RCV000224652]|not specified [RCV001726058] Chr11:74085833 [GRCh38]
Chr11:73796878 [GRCh37]
Chr11:11q13.4		 benign|likely benign
NM_001286577.2(C2CD3):c.983G>A (p.Arg328His) single nucleotide variant not provided [RCV001857838]|not specified [RCV000238895] Chr11:74133530 [GRCh38]
Chr11:73844575 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.254C>T (p.Pro85Leu) single nucleotide variant not provided [RCV000305252] Chr11:74168415 [GRCh38]
Chr11:73879460 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.3929T>C (p.Ile1310Thr) single nucleotide variant C2CD3-related disorder [RCV003949918]|not provided [RCV000395477] Chr11:74084952 [GRCh38]
Chr11:73795997 [GRCh37]
Chr11:11q13.4		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001286577.2(C2CD3):c.128T>G (p.Leu43Arg) single nucleotide variant not provided [RCV000489277] Chr11:74168541 [GRCh38]
Chr11:73879586 [GRCh37]
Chr11:11q13.4		 likely pathogenic
NM_001286577.2(C2CD3):c.6736A>G (p.Ile2246Val) single nucleotide variant not specified [RCV000489528] Chr11:74033424 [GRCh38]
Chr11:73744469 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.1365+1G>A single nucleotide variant Orofaciodigital syndrome type 14 [RCV000766221]|not provided [RCV002533921] Chr11:74122987 [GRCh38]
Chr11:73834032 [GRCh37]
Chr11:11q13.4		 pathogenic|likely pathogenic
NM_001286577.2(C2CD3):c.3223A>C (p.Ser1075Arg) single nucleotide variant Inborn genetic diseases [RCV002535416]|not provided [RCV000735094] Chr11:74093937 [GRCh38]
Chr11:73804982 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.5864T>C (p.Val1955Ala) single nucleotide variant not provided [RCV000735099] Chr11:74037495 [GRCh38]
Chr11:73748540 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.2659G>A (p.Val887Met) single nucleotide variant C2CD3-related disorder [RCV003938130]|Inborn genetic diseases [RCV002533759]|not provided [RCV000954725]|not specified [RCV000736093] Chr11:74100598 [GRCh38]
Chr11:73811643 [GRCh37]
Chr11:11q13.4		 benign|likely benign
NM_001286577.2(C2CD3):c.2663G>A (p.Arg888Gln) single nucleotide variant Inborn genetic diseases [RCV004022176]|not provided [RCV000413629] Chr11:74100594 [GRCh38]
Chr11:73811639 [GRCh37]
Chr11:11q13.4		 conflicting interpretations of pathogenicity|uncertain significance
NM_001286577.2(C2CD3):c.5404T>C (p.Tyr1802His) single nucleotide variant Inborn genetic diseases [RCV002521429]|not provided [RCV000414019] Chr11:74048296 [GRCh38]
Chr11:73759341 [GRCh37]
Chr11:11q13.4		 conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 11q13.4(chr11:73444963-73777547)x3 copy number gain See cases [RCV000447257] Chr11:73444963..73777547 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.2594C>G (p.Ser865Cys) single nucleotide variant Familial aplasia of the vermis [RCV004800409]|Inborn genetic diseases [RCV002525445]|not provided [RCV000434262] Chr11:74100663 [GRCh38]
Chr11:73811708 [GRCh37]
Chr11:11q13.4		 conflicting interpretations of pathogenicity|uncertain significance
NM_001286577.2(C2CD3):c.2068C>G (p.Pro690Ala) single nucleotide variant Inborn genetic diseases [RCV002522526]|not provided [RCV000441488] Chr11:74106388 [GRCh38]
Chr11:73817433 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.5362-4A>G single nucleotide variant not specified [RCV000441885] Chr11:74048342 [GRCh38]
Chr11:73759387 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.4487G>A (p.Arg1496Gln) single nucleotide variant not provided [RCV000427973] Chr11:74078231 [GRCh38]
Chr11:73789276 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.265A>G (p.Arg89Gly) single nucleotide variant Inborn genetic diseases [RCV004022358]|not provided [RCV000428075] Chr11:74168404 [GRCh38]
Chr11:73879449 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.330G>A (p.Met110Ile) single nucleotide variant not provided [RCV000438646] Chr11:74161552 [GRCh38]
Chr11:73872597 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.4600A>G (p.Ser1534Gly) single nucleotide variant not provided [RCV000439196] Chr11:74078118 [GRCh38]
Chr11:73789163 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.3082G>T (p.Asp1028Tyr) single nucleotide variant not provided [RCV000418985] Chr11:74095306 [GRCh38]
Chr11:73806351 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.1615C>T (p.His539Tyr) single nucleotide variant not provided [RCV000440294] Chr11:74114499 [GRCh38]
Chr11:73825544 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.1964C>A (p.Pro655Gln) single nucleotide variant not provided [RCV000423054] Chr11:74106492 [GRCh38]
Chr11:73817537 [GRCh37]
Chr11:11q13.4		 conflicting interpretations of pathogenicity|uncertain significance
NM_001286577.2(C2CD3):c.708-2_708-1del deletion not provided [RCV000480770] Chr11:74138968..74138969 [GRCh38]
Chr11:73850013..73850014 [GRCh37]
Chr11:11q13.4		 pathogenic|likely pathogenic
NM_001286577.2(C2CD3):c.3910+1G>A single nucleotide variant not provided [RCV000481894] Chr11:74085617 [GRCh38]
Chr11:73796662 [GRCh37]
Chr11:11q13.4		 pathogenic
NM_001286577.2(C2CD3):c.5567C>T (p.Ser1856Phe) single nucleotide variant not provided [RCV000481857] Chr11:74042147 [GRCh38]
Chr11:73753192 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.5227G>T (p.Gly1743Cys) single nucleotide variant Jeune thoracic dystrophy [RCV000754954]|not provided [RCV000478339] Chr11:74049471 [GRCh38]
Chr11:73760516 [GRCh37]
Chr11:11q13.4		 likely pathogenic|uncertain significance
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470) copy number gain See cases [RCV000511729] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3 copy number gain See cases [RCV000510881] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
NM_001286577.2(C2CD3):c.314C>G (p.Ser105Cys) single nucleotide variant Inborn genetic diseases [RCV003277267] Chr11:74168355 [GRCh38]
Chr11:73879400 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.3518-3C>T single nucleotide variant not specified [RCV000612333] Chr11:74090939 [GRCh38]
Chr11:73801984 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.5815C>T (p.Pro1939Ser) single nucleotide variant Inborn genetic diseases [RCV003244245] Chr11:74037544 [GRCh38]
Chr11:73748589 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.3671A>G (p.Gln1224Arg) single nucleotide variant Inborn genetic diseases [RCV002527398]|not provided [RCV000512754] Chr11:74085857 [GRCh38]
Chr11:73796902 [GRCh37]
Chr11:11q13.4		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001286577.2(C2CD3):c.283G>A (p.Ala95Thr) single nucleotide variant not provided [RCV000513055] Chr11:74168386 [GRCh38]
Chr11:73879431 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.6833A>G (p.Asn2278Ser) single nucleotide variant not provided [RCV000513361] Chr11:74028375 [GRCh38]
Chr11:73739420 [GRCh37]
Chr11:11q13.4		 conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 11q13.4-23.3(chr11:71588805-116680918)x3 copy number gain not provided [RCV000683374] Chr11:71588805..116680918 [GRCh37]
Chr11:11q13.4-23.3		 pathogenic
GRCh37/hg19 11q13.4(chr11:73254213-73770541)x3 copy number gain not provided [RCV000683339] Chr11:73254213..73770541 [GRCh37]
Chr11:11q13.4		 uncertain significance
GRCh37/hg19 11p15.5-q25(chr11:198510-134934063)x3 copy number gain not provided [RCV000737348] Chr11:198510..134934063 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
NM_001286577.2(C2CD3):c.704C>T (p.Pro235Leu) single nucleotide variant C2CD3-related disorder [RCV003918231]|Inborn genetic diseases [RCV002533760]|Orofaciodigital syndrome type 14 [RCV001196969]|not provided [RCV000951295]|not specified [RCV000736096] Chr11:74139608 [GRCh38]
Chr11:73850653 [GRCh37]
Chr11:11q13.4		 benign|likely benign
GRCh37/hg19 11p15.5-q25(chr11:70864-134938470)x3 copy number gain not provided [RCV000749874] Chr11:70864..134938470 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
NM_001286577.2(C2CD3):c.6921+42A>C single nucleotide variant not provided [RCV001682001] Chr11:74028245 [GRCh38]
Chr11:73739290 [GRCh37]
Chr11:11q13.4		 benign
NM_001286577.2(C2CD3):c.5156-99T>C single nucleotide variant not provided [RCV001708200] Chr11:74049641 [GRCh38]
Chr11:73760686 [GRCh37]
Chr11:11q13.4		 benign
NM_001286577.2(C2CD3):c.4603+267T>C single nucleotide variant not provided [RCV001534439] Chr11:74077848 [GRCh38]
Chr11:73788893 [GRCh37]
Chr11:11q13.4		 benign
NM_001286577.2(C2CD3):c.484-131_484-130del microsatellite not provided [RCV001666378] Chr11:74139958..74139959 [GRCh38]
Chr11:73851003..73851004 [GRCh37]
Chr11:11q13.4		 benign
NM_001286577.2(C2CD3):c.1844-61G>A single nucleotide variant not provided [RCV001666508] Chr11:74109213 [GRCh38]
Chr11:73820258 [GRCh37]
Chr11:11q13.4		 benign
NM_001286577.2(C2CD3):c.2472A>G (p.Lys824=) single nucleotide variant not provided [RCV000980541] Chr11:74103239 [GRCh38]
Chr11:73814284 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.5881+127dup duplication not provided [RCV001707001] Chr11:74037336..74037337 [GRCh38]
Chr11:73748381..73748382 [GRCh37]
Chr11:11q13.4		 benign
NM_001286577.2(C2CD3):c.5491G>T (p.Gly1831Trp) single nucleotide variant not provided [RCV001645751] Chr11:74048209 [GRCh38]
Chr11:73759254 [GRCh37]
Chr11:11q13.4		 benign
NM_001286577.2(C2CD3):c.1217+7A>T single nucleotide variant not provided [RCV000994685] Chr11:74132837 [GRCh38]
Chr11:73843882 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.4923A>G (p.Val1641=) single nucleotide variant Orofaciodigital syndrome type 14 [RCV001554619]|not provided [RCV001676061] Chr11:74074281 [GRCh38]
Chr11:73785326 [GRCh37]
Chr11:11q13.4		 benign
NM_001286577.2(C2CD3):c.6001del (p.Cys2001fs) deletion Orofaciodigital syndrome type 14 [RCV001591677]|not provided [RCV001882709] Chr11:74034159 [GRCh38]
Chr11:73745204 [GRCh37]
Chr11:11q13.4		 likely pathogenic|uncertain significance
NM_001286577.2(C2CD3):c.2238A>G (p.Pro746=) single nucleotide variant not provided [RCV000900753] Chr11:74103473 [GRCh38]
Chr11:73814518 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.5053A>G (p.Thr1685Ala) single nucleotide variant not provided [RCV000901684] Chr11:74057443 [GRCh38]
Chr11:73768488 [GRCh37]
Chr11:11q13.4		 benign
NM_001286577.2(C2CD3):c.1251G>T (p.Gly417=) single nucleotide variant C2CD3-related disorder [RCV003950581]|not provided [RCV000901686] Chr11:74123102 [GRCh38]
Chr11:73834147 [GRCh37]
Chr11:11q13.4		 benign|likely benign
NM_001286577.2(C2CD3):c.1169G>A (p.Arg390Lys) single nucleotide variant not provided [RCV000969260] Chr11:74132892 [GRCh38]
Chr11:73843937 [GRCh37]
Chr11:11q13.4		 benign
NM_001286577.2(C2CD3):c.707+10A>T single nucleotide variant not provided [RCV000969261] Chr11:74139595 [GRCh38]
Chr11:73850640 [GRCh37]
Chr11:11q13.4		 benign
NM_001286577.2(C2CD3):c.4773G>A (p.Glu1591=) single nucleotide variant not provided [RCV000924847] Chr11:74074431 [GRCh38]
Chr11:73785476 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.4326T>C (p.Tyr1442=) single nucleotide variant not provided [RCV000905114] Chr11:74078392 [GRCh38]
Chr11:73789437 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.6984G>T (p.Ser2328=) single nucleotide variant not provided [RCV000958625] Chr11:74013463 [GRCh38]
Chr11:73724508 [GRCh37]
Chr11:11q13.4		 benign|likely benign
NM_001286577.2(C2CD3):c.2979+9C>T single nucleotide variant not provided [RCV000914766] Chr11:74098000 [GRCh38]
Chr11:73809045 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.520G>A (p.Asp174Asn) single nucleotide variant C2CD3-related disorder [RCV003928433]|Inborn genetic diseases [RCV004029931]|not provided [RCV000967766] Chr11:74139792 [GRCh38]
Chr11:73850837 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.4023C>T (p.Ile1341=) single nucleotide variant not provided [RCV000922104] Chr11:74078695 [GRCh38]
Chr11:73789740 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.1414G>A (p.Val472Ile) single nucleotide variant C2CD3-related disorder [RCV003960406]|not provided [RCV000922105] Chr11:74118334 [GRCh38]
Chr11:73829379 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.1962+6T>A single nucleotide variant not provided [RCV000879305] Chr11:74109028 [GRCh38]
Chr11:73820073 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.2344G>A (p.Val782Ile) single nucleotide variant not provided [RCV000901685] Chr11:74103367 [GRCh38]
Chr11:73814412 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.2352G>A (p.Thr784=) single nucleotide variant not provided [RCV000892930] Chr11:74103359 [GRCh38]
Chr11:73814404 [GRCh37]
Chr11:11q13.4		 benign
NM_001286577.2(C2CD3):c.5602G>A (p.Asp1868Asn) single nucleotide variant C2CD3-related disorder [RCV003943224]|not provided [RCV000973199] Chr11:74042112 [GRCh38]
Chr11:73753157 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.5022A>G (p.Ser1674=) single nucleotide variant not provided [RCV000925417] Chr11:74057474 [GRCh38]
Chr11:73768519 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.958C>G (p.Leu320Val) single nucleotide variant C2CD3-related disorder [RCV003910770]|not provided [RCV000902337] Chr11:74133555 [GRCh38]
Chr11:73844600 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.3789T>C (p.His1263=) single nucleotide variant not provided [RCV000938179] Chr11:74085739 [GRCh38]
Chr11:73796784 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.3746G>A (p.Arg1249Gln) single nucleotide variant not provided [RCV000880859] Chr11:74085782 [GRCh38]
Chr11:73796827 [GRCh37]
Chr11:11q13.4		 benign
NM_001286577.2(C2CD3):c.6343C>T (p.Pro2115Ser) single nucleotide variant not provided [RCV000951293] Chr11:74033817 [GRCh38]
Chr11:73744862 [GRCh37]
Chr11:11q13.4		 benign
NM_001286577.2(C2CD3):c.1731-9dup duplication not provided [RCV000902317] Chr11:74113900..74113901 [GRCh38]
Chr11:73824945..73824946 [GRCh37]
Chr11:11q13.4		 benign
NM_001286577.2(C2CD3):c.5496-10_5496-6del deletion not provided [RCV000951294] Chr11:74042224..74042228 [GRCh38]
Chr11:73753269..73753273 [GRCh37]
Chr11:11q13.4		 benign
NM_001286577.2(C2CD3):c.2151C>T (p.Asn717=) single nucleotide variant C2CD3-related disorder [RCV003916174]|not provided [RCV000965207] Chr11:74103560 [GRCh38]
Chr11:73814605 [GRCh37]
Chr11:11q13.4		 benign
NM_001286577.2(C2CD3):c.131C>A (p.Thr44Asn) single nucleotide variant not provided [RCV000903203] Chr11:74168538 [GRCh38]
Chr11:73879583 [GRCh37]
Chr11:11q13.4		 benign
NM_001286577.2(C2CD3):c.2211C>T (p.Asn737=) single nucleotide variant not provided [RCV000943337] Chr11:74103500 [GRCh38]
Chr11:73814545 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.1290T>C (p.Asp430=) single nucleotide variant not provided [RCV000941707] Chr11:74123063 [GRCh38]
Chr11:73834108 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.3813G>A (p.Leu1271=) single nucleotide variant not provided [RCV000893649] Chr11:74085715 [GRCh38]
Chr11:73796760 [GRCh37]
Chr11:11q13.4		 benign
NM_001286577.2(C2CD3):c.2544A>G (p.Ala848=) single nucleotide variant C2CD3-related disorder [RCV003943114]|not provided [RCV000962199] Chr11:74103167 [GRCh38]
Chr11:73814212 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.4130G>A (p.Arg1377Gln) single nucleotide variant C2CD3-related disorder [RCV003910663]|not provided [RCV000895405] Chr11:74078588 [GRCh38]
Chr11:73789633 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.638G>A (p.Arg213His) single nucleotide variant not provided [RCV000895406] Chr11:74139674 [GRCh38]
Chr11:73850719 [GRCh37]
Chr11:11q13.4		 benign
NM_001286577.2(C2CD3):c.4031C>T (p.Pro1344Leu) single nucleotide variant not provided [RCV000929122] Chr11:74078687 [GRCh38]
Chr11:73789732 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.4248G>A (p.Leu1416=) single nucleotide variant not provided [RCV000980265] Chr11:74078470 [GRCh38]
Chr11:73789515 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.1113G>A (p.Arg371=) single nucleotide variant not provided [RCV000891532] Chr11:74132948 [GRCh38]
Chr11:73843993 [GRCh37]
Chr11:11q13.4		 benign
NM_001286577.2(C2CD3):c.519C>T (p.Tyr173=) single nucleotide variant not provided [RCV000976004] Chr11:74139793 [GRCh38]
Chr11:73850838 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.3148T>C (p.Phe1050Leu) single nucleotide variant not provided [RCV000960112] Chr11:74095240 [GRCh38]
Chr11:73806285 [GRCh37]
Chr11:11q13.4		 benign
NM_001286577.2(C2CD3):c.4037A>C (p.Asp1346Ala) single nucleotide variant not provided [RCV000893762] Chr11:74078681 [GRCh38]
Chr11:73789726 [GRCh37]
Chr11:11q13.4		 benign
NM_001286577.2(C2CD3):c.126A>G (p.Lys42=) single nucleotide variant not provided [RCV000962200] Chr11:74168543 [GRCh38]
Chr11:73879588 [GRCh37]
Chr11:11q13.4		 benign
GRCh37/hg19 11q13.4(chr11:73395712-73788461)x3 copy number gain not provided [RCV000847026] Chr11:73395712..73788461 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.4658G>A (p.Arg1553Gln) single nucleotide variant Orofaciodigital syndrome type 14 [RCV000984906]|not provided [RCV002280144] Chr11:74074546 [GRCh38]
Chr11:73785591 [GRCh37]
Chr11:11q13.4		 uncertain significance
GRCh37/hg19 11q13.4(chr11:73128157-73788461)x4 copy number gain not provided [RCV000846791] Chr11:73128157..73788461 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.5500G>T (p.Asp1834Tyr) single nucleotide variant Orofaciodigital syndrome type 14 [RCV000988594] Chr11:74042214 [GRCh38]
Chr11:73753259 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.1967A>G (p.Glu656Gly) single nucleotide variant Inborn genetic diseases [RCV003245554] Chr11:74106489 [GRCh38]
Chr11:73817534 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.2220G>A (p.Met740Ile) single nucleotide variant Orofaciodigital syndrome type 14 [RCV001197992] Chr11:74103491 [GRCh38]
Chr11:73814536 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.844T>A (p.Ser282Thr) single nucleotide variant Inborn genetic diseases [RCV003272837] Chr11:74138831 [GRCh38]
Chr11:73849876 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.2979+10G>A single nucleotide variant not provided [RCV003105156] Chr11:74097999 [GRCh38]
Chr11:73809044 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.4530C>T (p.Asp1510=) single nucleotide variant not provided [RCV003852725] Chr11:74078188 [GRCh38]
Chr11:73789233 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.5496-6del deletion Inborn genetic diseases [RCV002568477]|not provided [RCV001573882]|not specified [RCV001726596] Chr11:74042224 [GRCh38]
Chr11:73753269 [GRCh37]
Chr11:11q13.4		 benign|likely benign
NM_001286577.2(C2CD3):c.266G>A (p.Arg89Lys) single nucleotide variant not provided [RCV003106838] Chr11:74168403 [GRCh38]
Chr11:73879448 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.1261C>T (p.Pro421Ser) single nucleotide variant Inborn genetic diseases [RCV003292785] Chr11:74123092 [GRCh38]
Chr11:73834137 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.4604-327_4604-319del deletion not provided [RCV001635848] Chr11:74074919..74074927 [GRCh38]
Chr11:73785964..73785972 [GRCh37]
Chr11:11q13.4		 benign
NM_001286577.2(C2CD3):c.4603+184T>C single nucleotide variant not provided [RCV001598288] Chr11:74077931 [GRCh38]
Chr11:73788976 [GRCh37]
Chr11:11q13.4		 benign
NM_001286577.2(C2CD3):c.5496-7_5496-6del deletion not provided [RCV001713419] Chr11:74042224..74042225 [GRCh38]
Chr11:73753269..73753270 [GRCh37]
Chr11:11q13.4		 benign
NM_001286577.2(C2CD3):c.4603+268A>T single nucleotide variant not provided [RCV001638204] Chr11:74077847 [GRCh38]
Chr11:73788892 [GRCh37]
Chr11:11q13.4		 benign
NM_001286577.2(C2CD3):c.5362-281A>C single nucleotide variant not provided [RCV001608644] Chr11:74048619 [GRCh38]
Chr11:73759664 [GRCh37]
Chr11:11q13.4		 benign
NC_000011.10:g.74171051dup duplication not provided [RCV001659190] Chr11:74171045..74171046 [GRCh38]
Chr11:73882090..73882091 [GRCh37]
Chr11:11q13.4		 benign
NM_001286577.2(C2CD3):c.2280A>C (p.Ala760=) single nucleotide variant not provided [RCV001721683] Chr11:74103431 [GRCh38]
Chr11:73814476 [GRCh37]
Chr11:11q13.4		 benign
NM_001286577.2(C2CD3):c.6921+31A>G single nucleotide variant not provided [RCV001681395] Chr11:74028256 [GRCh38]
Chr11:73739301 [GRCh37]
Chr11:11q13.4		 benign
NM_001286577.2(C2CD3):c.1843+80dup duplication not provided [RCV001640832] Chr11:74113679..74113680 [GRCh38]
Chr11:73824724..73824725 [GRCh37]
Chr11:11q13.4		 benign
NM_001286577.2(C2CD3):c.3890A>G (p.Tyr1297Cys) single nucleotide variant not provided [RCV001595332] Chr11:74085638 [GRCh38]
Chr11:73796683 [GRCh37]
Chr11:11q13.4		 benign
NM_001286577.2(C2CD3):c.1843+99_1843+100del deletion not provided [RCV001642030] Chr11:74113680..74113681 [GRCh38]
Chr11:73824725..73824726 [GRCh37]
Chr11:11q13.4		 benign
NM_001286577.2(C2CD3):c.326-108dup duplication not provided [RCV001689157] Chr11:74161656..74161657 [GRCh38]
Chr11:73872701..73872702 [GRCh37]
Chr11:11q13.4		 benign
NM_001286577.2(C2CD3):c.5155+200A>T single nucleotide variant not provided [RCV001656219] Chr11:74054407 [GRCh38]
Chr11:73765452 [GRCh37]
Chr11:11q13.4		 benign
NM_001286577.2(C2CD3):c.4000+140T>A single nucleotide variant not provided [RCV001669768] Chr11:74084741 [GRCh38]
Chr11:73795786 [GRCh37]
Chr11:11q13.4		 benign
NM_001286577.2(C2CD3):c.3517+63G>A single nucleotide variant not provided [RCV001649815] Chr11:74092353 [GRCh38]
Chr11:73803398 [GRCh37]
Chr11:11q13.4		 benign
NM_001286577.2(C2CD3):c.484-162C>G single nucleotide variant not provided [RCV001719326] Chr11:74139990 [GRCh38]
Chr11:73851035 [GRCh37]
Chr11:11q13.4		 benign
NM_001286577.2(C2CD3):c.1521-114A>G single nucleotide variant not provided [RCV001686428] Chr11:74114707 [GRCh38]
Chr11:73825752 [GRCh37]
Chr11:11q13.4		 benign
NM_001286577.2(C2CD3):c.5155+99del deletion not provided [RCV001677079] Chr11:74054508 [GRCh38]
Chr11:73765553 [GRCh37]
Chr11:11q13.4		 benign
NM_001286577.2(C2CD3):c.5362-73C>T single nucleotide variant not provided [RCV001621322] Chr11:74048411 [GRCh38]
Chr11:73759456 [GRCh37]
Chr11:11q13.4		 benign
NM_001286577.2(C2CD3):c.3161-201del deletion not provided [RCV001678032] Chr11:74094200 [GRCh38]
Chr11:73805245 [GRCh37]
Chr11:11q13.4		 benign
NM_001286577.2(C2CD3):c.3641+196C>G single nucleotide variant not provided [RCV001666004] Chr11:74090617 [GRCh38]
Chr11:73801662 [GRCh37]
Chr11:11q13.4		 benign
NM_001286577.2(C2CD3):c.2170T>C (p.Cys724Arg) single nucleotide variant Inborn genetic diseases [RCV003242220] Chr11:74103541 [GRCh38]
Chr11:73814586 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.956-9C>G single nucleotide variant not provided [RCV000927419] Chr11:74133566 [GRCh38]
Chr11:73844611 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.2988C>T (p.Asp996=) single nucleotide variant not provided [RCV000888709] Chr11:74095400 [GRCh38]
Chr11:73806445 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.2188A>G (p.Asn730Asp) single nucleotide variant C2CD3-related disorder [RCV003923153]|not provided [RCV000911030] Chr11:74103523 [GRCh38]
Chr11:73814568 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.2739T>C (p.Ala913=) single nucleotide variant not provided [RCV000918428] Chr11:74098249 [GRCh38]
Chr11:73809294 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.3641+8C>T single nucleotide variant not provided [RCV000932467] Chr11:74090805 [GRCh38]
Chr11:73801850 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.5184G>A (p.Ser1728=) single nucleotide variant C2CD3-related disorder [RCV003970451]|not provided [RCV000917591] Chr11:74049514 [GRCh38]
Chr11:73760559 [GRCh37]
Chr11:11q13.4		 benign|likely benign
NM_001286577.2(C2CD3):c.3741G>C (p.Gln1247His) single nucleotide variant Rudimentary fibula [RCV001257346]|not provided [RCV000888000] Chr11:74085787 [GRCh38]
Chr11:73796832 [GRCh37]
Chr11:11q13.4		 likely pathogenic|likely benign
NM_001286577.2(C2CD3):c.840G>A (p.Gln280=) single nucleotide variant not provided [RCV000886715] Chr11:74138835 [GRCh38]
Chr11:73849880 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.459G>A (p.Thr153=) single nucleotide variant not provided [RCV000915023] Chr11:74161423 [GRCh38]
Chr11:73872468 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.5653T>C (p.Ser1885Pro) single nucleotide variant C2CD3-related disorder [RCV003926011]|not provided [RCV000954724] Chr11:74042061 [GRCh38]
Chr11:73753106 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.1795T>C (p.Leu599=) single nucleotide variant not provided [RCV000923772] Chr11:74113828 [GRCh38]
Chr11:73824873 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.56-8C>G single nucleotide variant not provided [RCV000915190] Chr11:74168621 [GRCh38]
Chr11:73879666 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.5403G>A (p.Thr1801=) single nucleotide variant not provided [RCV000962432] Chr11:74048297 [GRCh38]
Chr11:73759342 [GRCh37]
Chr11:11q13.4		 benign
NM_001286577.2(C2CD3):c.6711A>T (p.Arg2237Ser) single nucleotide variant C2CD3-related disorder [RCV003906102]|not provided [RCV000978445] Chr11:74033449 [GRCh38]
Chr11:73744494 [GRCh37]
Chr11:11q13.4		 benign
NM_001286577.2(C2CD3):c.4685C>G (p.Ser1562Cys) single nucleotide variant not provided [RCV000978446] Chr11:74074519 [GRCh38]
Chr11:73785564 [GRCh37]
Chr11:11q13.4		 benign
NM_001286577.2(C2CD3):c.2501G>A (p.Cys834Tyr) single nucleotide variant C2CD3-related disorder [RCV003922843]|not provided [RCV000895121] Chr11:74103210 [GRCh38]
Chr11:73814255 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.3642-4A>G single nucleotide variant Inborn genetic diseases [RCV002540811]|not provided [RCV000910425] Chr11:74085890 [GRCh38]
Chr11:73796935 [GRCh37]
Chr11:11q13.4		 benign|likely benign
NM_001286577.2(C2CD3):c.5496-5G>T single nucleotide variant not provided [RCV000951119] Chr11:74042223 [GRCh38]
Chr11:73753268 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.3750C>G (p.Thr1250=) single nucleotide variant not provided [RCV000931457] Chr11:74085778 [GRCh38]
Chr11:73796823 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.5082G>T (p.Gln1694His) single nucleotide variant not provided [RCV000962961] Chr11:74057414 [GRCh38]
Chr11:73768459 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.5496-2A>G single nucleotide variant not provided [RCV001070637] Chr11:74042220 [GRCh38]
Chr11:73753265 [GRCh37]
Chr11:11q13.4		 likely pathogenic
NM_001286577.2(C2CD3):c.3252A>G (p.Pro1084=) single nucleotide variant not provided [RCV000890010] Chr11:74093908 [GRCh38]
Chr11:73804953 [GRCh37]
Chr11:11q13.4		 benign
NM_001286577.2(C2CD3):c.684C>T (p.Asn228=) single nucleotide variant not provided [RCV000890011] Chr11:74139628 [GRCh38]
Chr11:73850673 [GRCh37]
Chr11:11q13.4		 benign
NM_001286577.2(C2CD3):c.195G>C (p.Trp65Cys) single nucleotide variant Orofaciodigital syndrome type 14 [RCV000984980] Chr11:74168474 [GRCh38]
Chr11:73879519 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.62G>A (p.Ser21Asn) single nucleotide variant C2CD3-related disorder [RCV003950754]|not provided [RCV000912049] Chr11:74168607 [GRCh38]
Chr11:73879652 [GRCh37]
Chr11:11q13.4		 benign|likely benign
NM_001286577.2(C2CD3):c.672G>A (p.Glu224=) single nucleotide variant not provided [RCV000935086] Chr11:74139640 [GRCh38]
Chr11:73850685 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.5882-332A>G single nucleotide variant Orofaciodigital syndrome type 14 [RCV003399366]|not provided [RCV001556611] Chr11:74034610 [GRCh38]
Chr11:73745655 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.5361+4T>C single nucleotide variant not provided [RCV002726189] Chr11:74049333 [GRCh38]
Chr11:73760378 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.1643T>C (p.Met548Thr) single nucleotide variant not provided [RCV003011731] Chr11:74114471 [GRCh38]
Chr11:73825516 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.3910+55A>G single nucleotide variant Orofaciodigital syndrome type 14 [RCV001554620]|not provided [RCV001615326] Chr11:74085563 [GRCh38]
Chr11:73796608 [GRCh37]
Chr11:11q13.4		 benign
NM_001286577.2(C2CD3):c.2581-266C>A single nucleotide variant not provided [RCV001649239] Chr11:74100942 [GRCh38]
Chr11:73811987 [GRCh37]
Chr11:11q13.4		 benign
NM_001286577.2(C2CD3):c.6807G>T (p.Leu2269=) single nucleotide variant Orofaciodigital syndrome type 14 [RCV002471896] Chr11:74033353 [GRCh38]
Chr11:73744398 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.1365+75_1365+76insGACATCACTTGCCA insertion not provided [RCV001621057] Chr11:74122912..74122913 [GRCh38]
Chr11:73833957..73833958 [GRCh37]
Chr11:11q13.4		 benign
NM_001286577.2(C2CD3):c.1365+89C>T single nucleotide variant not provided [RCV001720496] Chr11:74122899 [GRCh38]
Chr11:73833944 [GRCh37]
Chr11:11q13.4		 benign
NM_001286577.2(C2CD3):c.5882-72A>G single nucleotide variant not provided [RCV001720507] Chr11:74034350 [GRCh38]
Chr11:73745395 [GRCh37]
Chr11:11q13.4		 benign
NM_001286577.2(C2CD3):c.1843+100del deletion not provided [RCV001719308] Chr11:74113680 [GRCh38]
Chr11:73824725 [GRCh37]
Chr11:11q13.4		 benign
NM_001286577.2(C2CD3):c.1088+36T>C single nucleotide variant not provided [RCV001675256] Chr11:74133389 [GRCh38]
Chr11:73844434 [GRCh37]
Chr11:11q13.4		 benign
NM_001286577.2(C2CD3):c.6921+242A>G single nucleotide variant not provided [RCV001639664] Chr11:74028045 [GRCh38]
Chr11:73739090 [GRCh37]
Chr11:11q13.4		 benign
NM_001286577.2(C2CD3):c.3345-188_3345-187insAG insertion not provided [RCV001608367] Chr11:74092775..74092776 [GRCh38]
Chr11:73803820..73803821 [GRCh37]
Chr11:11q13.4		 benign
NM_001286577.2(C2CD3):c.4603+320T>C single nucleotide variant not provided [RCV001654828] Chr11:74077795 [GRCh38]
Chr11:73788840 [GRCh37]
Chr11:11q13.4		 benign
NM_001286577.2(C2CD3):c.5091-96A>G single nucleotide variant not provided [RCV001675579] Chr11:74054767 [GRCh38]
Chr11:73765812 [GRCh37]
Chr11:11q13.4		 benign
NM_001286577.2(C2CD3):c.5496-143dup duplication not provided [RCV001619674] Chr11:74042360..74042361 [GRCh38]
Chr11:73753405..73753406 [GRCh37]
Chr11:11q13.4		 benign
NM_001286577.2(C2CD3):c.4951+179T>G single nucleotide variant not provided [RCV001620186] Chr11:74074074 [GRCh38]
Chr11:73785119 [GRCh37]
Chr11:11q13.4		 benign
NM_001286577.2(C2CD3):c.55+203A>T single nucleotide variant not provided [RCV001665026] Chr11:74170535 [GRCh38]
Chr11:73881580 [GRCh37]
Chr11:11q13.4		 benign
NM_001286577.2(C2CD3):c.56-89T>G single nucleotide variant not provided [RCV001688948] Chr11:74168702 [GRCh38]
Chr11:73879747 [GRCh37]
Chr11:11q13.4		 benign
NM_001286577.2(C2CD3):c.5155+293A>G single nucleotide variant not provided [RCV001689007] Chr11:74054314 [GRCh38]
Chr11:73765359 [GRCh37]
Chr11:11q13.4		 benign
NM_001286577.2(C2CD3):c.5881+270G>A single nucleotide variant not provided [RCV001670213] Chr11:74037208 [GRCh38]
Chr11:73748253 [GRCh37]
Chr11:11q13.4		 benign
NM_001286577.2(C2CD3):c.5496-24dup duplication not provided [RCV001696708] Chr11:74042223..74042224 [GRCh38]
Chr11:73753268..73753269 [GRCh37]
Chr11:11q13.4		 benign
NM_001286577.2(C2CD3):c.1520+298dup duplication not provided [RCV001688442] Chr11:74117913..74117914 [GRCh38]
Chr11:73828958..73828959 [GRCh37]
Chr11:11q13.4		 benign
NM_001286577.2(C2CD3):c.4001-15A>C single nucleotide variant not provided [RCV001637545] Chr11:74078732 [GRCh38]
Chr11:73789777 [GRCh37]
Chr11:11q13.4		 benign
NM_001286577.2(C2CD3):c.6810-210G>C single nucleotide variant not provided [RCV001693661] Chr11:74028608 [GRCh38]
Chr11:73739653 [GRCh37]
Chr11:11q13.4		 benign
NM_001286577.2(C2CD3):c.2732+189A>G single nucleotide variant not provided [RCV001595810] Chr11:74100336 [GRCh38]
Chr11:73811381 [GRCh37]
Chr11:11q13.4		 benign
NM_001286577.2(C2CD3):c.3642-262A>G single nucleotide variant not provided [RCV001673288] Chr11:74086148 [GRCh38]
Chr11:73797193 [GRCh37]
Chr11:11q13.4		 benign
NM_001286577.2(C2CD3):c.5091-71C>T single nucleotide variant not provided [RCV001637839] Chr11:74054742 [GRCh38]
Chr11:73765787 [GRCh37]
Chr11:11q13.4		 benign
NM_001286577.2(C2CD3):c.2990G>A (p.Arg997Gln) single nucleotide variant not provided [RCV001638211] Chr11:74095398 [GRCh38]
Chr11:73806443 [GRCh37]
Chr11:11q13.4		 benign
NM_001286577.2(C2CD3):c.5155+295A>G single nucleotide variant not provided [RCV001638249] Chr11:74054312 [GRCh38]
Chr11:73765357 [GRCh37]
Chr11:11q13.4		 benign
NM_001286577.2(C2CD3):c.326-67A>G single nucleotide variant not provided [RCV001650821] Chr11:74161623 [GRCh38]
Chr11:73872668 [GRCh37]
Chr11:11q13.4		 benign
NM_001286577.2(C2CD3):c.5362-161A>G single nucleotide variant not provided [RCV001657184] Chr11:74048499 [GRCh38]
Chr11:73759544 [GRCh37]
Chr11:11q13.4		 benign
NM_001286577.2(C2CD3):c.2980-23del deletion not provided [RCV001654613] Chr11:74095431 [GRCh38]
Chr11:73806476 [GRCh37]
Chr11:11q13.4		 benign
NM_001286577.2(C2CD3):c.1843+121C>A single nucleotide variant not provided [RCV001720509] Chr11:74113659 [GRCh38]
Chr11:73824704 [GRCh37]
Chr11:11q13.4		 benign
NM_001286577.2(C2CD3):c.5155+97_5155+99del deletion not provided [RCV001636172] Chr11:74054508..74054510 [GRCh38]
Chr11:73765553..73765555 [GRCh37]
Chr11:11q13.4		 benign
NM_001286577.2(C2CD3):c.5929C>T (p.Arg1977Ter) single nucleotide variant Orofaciodigital syndrome type 14 [RCV001027862]|not provided [RCV002552013] Chr11:74034231 [GRCh38]
Chr11:73745276 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.4000+153T>G single nucleotide variant not provided [RCV001696706] Chr11:74084728 [GRCh38]
Chr11:73795773 [GRCh37]
Chr11:11q13.4		 benign
NM_001286577.2(C2CD3):c.484-100G>C single nucleotide variant not provided [RCV001666879] Chr11:74139928 [GRCh38]
Chr11:73850973 [GRCh37]
Chr11:11q13.4		 benign
NM_001286577.2(C2CD3):c.3160+302T>C single nucleotide variant not provided [RCV001693973] Chr11:74094926 [GRCh38]
Chr11:73805971 [GRCh37]
Chr11:11q13.4		 benign
NM_001286577.2(C2CD3):c.1730+168_1730+171del microsatellite not provided [RCV001685863] Chr11:74114213..74114216 [GRCh38]
Chr11:73825258..73825261 [GRCh37]
Chr11:11q13.4		 benign
NM_001286577.2(C2CD3):c.5660+308T>G single nucleotide variant not provided [RCV001684462] Chr11:74041746 [GRCh38]
Chr11:73752791 [GRCh37]
Chr11:11q13.4		 benign
NM_001286577.2(C2CD3):c.4604-241G>A single nucleotide variant not provided [RCV001685076] Chr11:74074841 [GRCh38]
Chr11:73785886 [GRCh37]
Chr11:11q13.4		 benign
NM_001286577.2(C2CD3):c.5155+92_5155+99del deletion not provided [RCV001640800] Chr11:74054508..74054515 [GRCh38]
Chr11:73765553..73765560 [GRCh37]
Chr11:11q13.4		 benign
NM_001286577.2(C2CD3):c.5090+294G>C single nucleotide variant not provided [RCV001708245] Chr11:74057112 [GRCh38]
Chr11:73768157 [GRCh37]
Chr11:11q13.4		 benign
NM_001286577.2(C2CD3):c.5881+344A>G single nucleotide variant not provided [RCV001616101] Chr11:74037134 [GRCh38]
Chr11:73748179 [GRCh37]
Chr11:11q13.4		 benign
NM_001286577.2(C2CD3):c.4001-115G>A single nucleotide variant not provided [RCV001680945] Chr11:74078832 [GRCh38]
Chr11:73789877 [GRCh37]
Chr11:11q13.4		 benign
NM_001286577.2(C2CD3):c.7044G>A (p.Gln2348=) single nucleotide variant not provided [RCV001644317] Chr11:74013403 [GRCh38]
Chr11:73724448 [GRCh37]
Chr11:11q13.4		 benign
NM_001286577.2(C2CD3):c.5155+75dup duplication not provided [RCV001667129] Chr11:74054507..74054508 [GRCh38]
Chr11:73765552..73765553 [GRCh37]
Chr11:11q13.4		 benign
NM_001286577.2(C2CD3):c.1656A>G (p.Pro552=) single nucleotide variant not provided [RCV001613562] Chr11:74114458 [GRCh38]
Chr11:73825503 [GRCh37]
Chr11:11q13.4		 benign
NC_000011.10:g.74171215T>G single nucleotide variant not provided [RCV001725361] Chr11:74171215 [GRCh38]
Chr11:73882260 [GRCh37]
Chr11:11q13.4		 benign
NM_001286577.2(C2CD3):c.1843+121C>T single nucleotide variant not provided [RCV001539236] Chr11:74113659 [GRCh38]
Chr11:73824704 [GRCh37]
Chr11:11q13.4		 benign
NM_001286577.2(C2CD3):c.3160+249T>A single nucleotide variant not provided [RCV001691773] Chr11:74094979 [GRCh38]
Chr11:73806024 [GRCh37]
Chr11:11q13.4		 benign
NM_001286577.2(C2CD3):c.5494A>G (p.Arg1832Gly) single nucleotide variant not provided [RCV001681663] Chr11:74048206 [GRCh38]
Chr11:73759251 [GRCh37]
Chr11:11q13.4		 benign
NM_001286577.2(C2CD3):c.5660+175T>C single nucleotide variant not provided [RCV001614026] Chr11:74041879 [GRCh38]
Chr11:73752924 [GRCh37]
Chr11:11q13.4		 benign
NM_001286577.2(C2CD3):c.185G>C (p.Arg62Pro) single nucleotide variant Orofaciodigital syndrome type 14 [RCV001027863] Chr11:74168484 [GRCh38]
Chr11:73879529 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.159_160insC (p.Lys54fs) insertion Rudimentary fibula [RCV001257347] Chr11:74168509..74168510 [GRCh38]
Chr11:73879554..73879555 [GRCh37]
Chr11:11q13.4		 likely pathogenic
NM_001286577.2(C2CD3):c.325+263dup duplication not provided [RCV001663175] Chr11:74168079..74168080 [GRCh38]
Chr11:73879124..73879125 [GRCh37]
Chr11:11q13.4		 benign
NM_001286577.2(C2CD3):c.3650C>G (p.Ala1217Gly) single nucleotide variant Orofaciodigital syndrome type 14 [RCV001335759]|not provided [RCV002546745] Chr11:74085878 [GRCh38]
Chr11:73796923 [GRCh37]
Chr11:11q13.4		 benign|uncertain significance
NM_001286577.2(C2CD3):c.6237G>A (p.Thr2079=) single nucleotide variant C2CD3-related disorder [RCV003928834]|not provided [RCV001311264] Chr11:74033923 [GRCh38]
Chr11:73744968 [GRCh37]
Chr11:11q13.4		 benign|likely benign
Single allele deletion Intellectual disability [RCV001293382] Chr11:118359328..118372573 [GRCh37]
Chr11:11p15.3-q23.3		 pathogenic
NM_001286577.2(C2CD3):c.994dup (p.Val332fs) duplication Orofaciodigital syndrome type 14 [RCV001780341]|not provided [RCV001384739] Chr11:74133518..74133519 [GRCh38]
Chr11:73844563..73844564 [GRCh37]
Chr11:11q13.4		 pathogenic|likely pathogenic
NM_001286577.2(C2CD3):c.8A>C (p.Gln3Pro) single nucleotide variant not provided [RCV001358414] Chr11:74170785 [GRCh38]
Chr11:73881830 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.1861C>T (p.Arg621Ter) single nucleotide variant Orofaciodigital syndrome type 14 [RCV002499813]|not provided [RCV001389268] Chr11:74109135 [GRCh38]
Chr11:73820180 [GRCh37]
Chr11:11q13.4		 pathogenic|likely pathogenic
NM_001286577.2(C2CD3):c.6810-238A>G single nucleotide variant not provided [RCV001536249] Chr11:74028636 [GRCh38]
Chr11:73739681 [GRCh37]
Chr11:11q13.4		 benign
NM_001286577.2(C2CD3):c.2704C>A (p.Pro902Thr) single nucleotide variant Orofaciodigital syndrome type 14 [RCV001332082]|not provided [RCV002546528] Chr11:74100553 [GRCh38]
Chr11:73811598 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.4312C>A (p.Arg1438Ser) single nucleotide variant Orofaciodigital syndrome xiv [RCV001332083] Chr11:74078406 [GRCh38]
Chr11:73789451 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.4276C>T (p.His1426Tyr) single nucleotide variant not provided [RCV001339983] Chr11:74078442 [GRCh38]
Chr11:73789487 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.1562A>G (p.Asp521Gly) single nucleotide variant not provided [RCV001356516] Chr11:74114552 [GRCh38]
Chr11:73825597 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.1538A>G (p.Gln513Arg) single nucleotide variant not provided [RCV001365699] Chr11:74114576 [GRCh38]
Chr11:73825621 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.5405del (p.Tyr1802fs) deletion not provided [RCV001382380] Chr11:74048295 [GRCh38]
Chr11:73759340 [GRCh37]
Chr11:11q13.4		 pathogenic
NM_001286577.2(C2CD3):c.2755C>T (p.Leu919=) single nucleotide variant not provided [RCV001608854] Chr11:74098233 [GRCh38]
Chr11:73809278 [GRCh37]
Chr11:11q13.4		 benign
NM_001286577.2(C2CD3):c.484-112_484-82del deletion not provided [RCV001643364] Chr11:74139910..74139940 [GRCh38]
Chr11:73850955..73850985 [GRCh37]
Chr11:11q13.4		 benign
NM_001286577.2(C2CD3):c.-40G>T single nucleotide variant not provided [RCV001611039] Chr11:74170832 [GRCh38]
Chr11:73881877 [GRCh37]
Chr11:11q13.4		 benign
NM_001286577.2(C2CD3):c.3911-187dup duplication not provided [RCV001615526] Chr11:74085142..74085143 [GRCh38]
Chr11:73796187..73796188 [GRCh37]
Chr11:11q13.4		 benign
NM_001286577.2(C2CD3):c.4988G>A (p.Ser1663Asn) single nucleotide variant not provided [RCV001654212] Chr11:74057508 [GRCh38]
Chr11:73768553 [GRCh37]
Chr11:11q13.4		 benign
NM_001286577.2(C2CD3):c.1520+314del deletion not provided [RCV001696258] Chr11:74117914 [GRCh38]
Chr11:73828959 [GRCh37]
Chr11:11q13.4		 benign
NM_001286577.2(C2CD3):c.6058T>C (p.Ser2020Pro) single nucleotide variant not provided [RCV001685257] Chr11:74034102 [GRCh38]
Chr11:73745147 [GRCh37]
Chr11:11q13.4		 benign
NM_001286577.2(C2CD3):c.5361+251A>G single nucleotide variant not provided [RCV001643553] Chr11:74049086 [GRCh38]
Chr11:73760131 [GRCh37]
Chr11:11q13.4		 benign
NM_001286577.2(C2CD3):c.5362-236A>G single nucleotide variant not provided [RCV001714208] Chr11:74048574 [GRCh38]
Chr11:73759619 [GRCh37]
Chr11:11q13.4		 benign
NM_001286577.2(C2CD3):c.3517+72G>A single nucleotide variant not provided [RCV001617948] Chr11:74092344 [GRCh38]
Chr11:73803389 [GRCh37]
Chr11:11q13.4		 benign
NM_001286577.2(C2CD3):c.5155+158A>G single nucleotide variant not provided [RCV001652159] Chr11:74054449 [GRCh38]
Chr11:73765494 [GRCh37]
Chr11:11q13.4		 benign
NM_001286577.2(C2CD3):c.3517+181C>T single nucleotide variant not provided [RCV001614750] Chr11:74092235 [GRCh38]
Chr11:73803280 [GRCh37]
Chr11:11q13.4		 benign
NM_001286577.2(C2CD3):c.5090+226C>T single nucleotide variant not provided [RCV001687999] Chr11:74057180 [GRCh38]
Chr11:73768225 [GRCh37]
Chr11:11q13.4		 benign
NM_001286577.2(C2CD3):c.6920A>C (p.Gln2307Pro) single nucleotide variant not provided [RCV003107182] Chr11:74028288 [GRCh38]
Chr11:73739333 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.1706C>G (p.Pro569Arg) single nucleotide variant not provided [RCV003106836] Chr11:74114408 [GRCh38]
Chr11:73825453 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.1448T>C (p.Leu483Pro) single nucleotide variant Inborn genetic diseases [RCV003377924]|not provided [RCV003107013] Chr11:74118300 [GRCh38]
Chr11:73829345 [GRCh37]
Chr11:11q13.4		 likely benign|conflicting interpretations of pathogenicity
NM_001286577.2(C2CD3):c.3967G>T (p.Val1323Phe) single nucleotide variant Orofaciodigital syndrome type 14 [RCV002227859] Chr11:74084914 [GRCh38]
Chr11:73795959 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.708-2del deletion Orofaciodigital syndrome type 14 [RCV001780698] Chr11:74138969 [GRCh38]
Chr11:73850014 [GRCh37]
Chr11:11q13.4		 likely pathogenic
NM_001286577.2(C2CD3):c.4486C>T (p.Arg1496Ter) single nucleotide variant See cases [RCV002252941] Chr11:74078232 [GRCh38]
Chr11:73789277 [GRCh37]
Chr11:11q13.4		 likely pathogenic
NM_001286577.2(C2CD3):c.6236C>T (p.Thr2079Met) single nucleotide variant not provided [RCV002077178]|not specified [RCV001733566] Chr11:74033924 [GRCh38]
Chr11:73744969 [GRCh37]
Chr11:11q13.4		 benign
NM_001286577.2(C2CD3):c.4078G>A (p.Val1360Met) single nucleotide variant not provided [RCV002541032] Chr11:74078640 [GRCh38]
Chr11:73789685 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.4097C>T (p.Ser1366Leu) single nucleotide variant Inborn genetic diseases [RCV003298989]|not provided [RCV001773308] Chr11:74078621 [GRCh38]
Chr11:73789666 [GRCh37]
Chr11:11q13.4		 conflicting interpretations of pathogenicity|uncertain significance
NM_001286577.2(C2CD3):c.2728T>C (p.Phe910Leu) single nucleotide variant not provided [RCV001773309] Chr11:74100529 [GRCh38]
Chr11:73811574 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.1962+2T>A single nucleotide variant Orofaciodigital syndrome type 14 [RCV001780699] Chr11:74109032 [GRCh38]
Chr11:73820077 [GRCh37]
Chr11:11q13.4		 likely pathogenic
NM_001286577.2(C2CD3):c.4708G>T (p.Glu1570Ter) single nucleotide variant Orofaciodigital syndrome type 14 [RCV001780697] Chr11:74074496 [GRCh38]
Chr11:73785541 [GRCh37]
Chr11:11q13.4		 likely pathogenic
NM_001286577.2(C2CD3):c.2504A>T (p.Lys835Ile) single nucleotide variant not provided [RCV001761072] Chr11:74103207 [GRCh38]
Chr11:73814252 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.6590C>T (p.Thr2197Ile) single nucleotide variant not provided [RCV002009030] Chr11:74033570 [GRCh38]
Chr11:73744615 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.4679C>G (p.Ser1560Cys) single nucleotide variant not provided [RCV002044817] Chr11:74074525 [GRCh38]
Chr11:73785570 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.5507C>G (p.Thr1836Arg) single nucleotide variant not provided [RCV002008257] Chr11:74042207 [GRCh38]
Chr11:73753252 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.3509A>G (p.Gln1170Arg) single nucleotide variant not provided [RCV001950054] Chr11:74092424 [GRCh38]
Chr11:73803469 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.2339C>T (p.Thr780Ile) single nucleotide variant not provided [RCV001929597] Chr11:74103372 [GRCh38]
Chr11:73814417 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.6655G>A (p.Gly2219Ser) single nucleotide variant not provided [RCV002025865] Chr11:74033505 [GRCh38]
Chr11:73744550 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.1543C>G (p.Leu515Val) single nucleotide variant not provided [RCV002009351] Chr11:74114571 [GRCh38]
Chr11:73825616 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.3605A>G (p.Gln1202Arg) single nucleotide variant Inborn genetic diseases [RCV002551166]|not provided [RCV002024224] Chr11:74090849 [GRCh38]
Chr11:73801894 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.5906C>T (p.Ser1969Leu) single nucleotide variant not provided [RCV001969028] Chr11:74034254 [GRCh38]
Chr11:73745299 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.86T>C (p.Leu29Pro) single nucleotide variant not provided [RCV002009110] Chr11:74168583 [GRCh38]
Chr11:73879628 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.6827T>C (p.Val2276Ala) single nucleotide variant not provided [RCV001912867] Chr11:74028381 [GRCh38]
Chr11:73739426 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.6358A>G (p.Arg2120Gly) single nucleotide variant not provided [RCV002024448] Chr11:74033802 [GRCh38]
Chr11:73744847 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.81A>C (p.Thr27=) single nucleotide variant C2CD3-related disorder [RCV003913483]|not provided [RCV002045208] Chr11:74168588 [GRCh38]
Chr11:73879633 [GRCh37]
Chr11:11q13.4		 likely benign|uncertain significance
NM_001286577.2(C2CD3):c.5701C>T (p.Arg1901Cys) single nucleotide variant Orofaciodigital syndrome type 14 [RCV004577004]|not provided [RCV001914779] Chr11:74037658 [GRCh38]
Chr11:73748703 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.5552G>A (p.Arg1851His) single nucleotide variant not provided [RCV002045408] Chr11:74042162 [GRCh38]
Chr11:73753207 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.3403A>G (p.Arg1135Gly) single nucleotide variant not provided [RCV001971356] Chr11:74092530 [GRCh38]
Chr11:73803575 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.5605G>A (p.Asp1869Asn) single nucleotide variant not provided [RCV001890826] Chr11:74042109 [GRCh38]
Chr11:73753154 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.5612T>G (p.Leu1871Arg) single nucleotide variant Inborn genetic diseases [RCV004044421]|not provided [RCV001965662] Chr11:74042102 [GRCh38]
Chr11:73753147 [GRCh37]
Chr11:11q13.4		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 11q13.4(chr11:73444963-73777547) copy number gain not specified [RCV002052936] Chr11:73444963..73777547 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.6332C>G (p.Ser2111Cys) single nucleotide variant not provided [RCV001909579] Chr11:74033828 [GRCh38]
Chr11:73744873 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.4951+6C>T single nucleotide variant Inborn genetic diseases [RCV002562780]|not provided [RCV001965158] Chr11:74074247 [GRCh38]
Chr11:73785292 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.955+3A>G single nucleotide variant not provided [RCV002021945] Chr11:74138717 [GRCh38]
Chr11:73849762 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.461C>G (p.Ser154Cys) single nucleotide variant Inborn genetic diseases [RCV002551002]|not provided [RCV001947198] Chr11:74161421 [GRCh38]
Chr11:73872466 [GRCh37]
Chr11:11q13.4		 likely benign|uncertain significance
NM_001286577.2(C2CD3):c.2359_2360delinsAT (p.Ser787Ile) indel Inborn genetic diseases [RCV002561541]|not provided [RCV002002031] Chr11:74103351..74103352 [GRCh38]
Chr11:73814396..73814397 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.5143T>C (p.Trp1715Arg) single nucleotide variant not provided [RCV002040923] Chr11:74054619 [GRCh38]
Chr11:73765664 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.2677G>A (p.Asp893Asn) single nucleotide variant not provided [RCV001893211] Chr11:74100580 [GRCh38]
Chr11:73811625 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.6191A>G (p.Tyr2064Cys) single nucleotide variant not provided [RCV001946296] Chr11:74033969 [GRCh38]
Chr11:73745014 [GRCh37]
Chr11:11q13.4		 likely benign|uncertain significance
NM_001286577.2(C2CD3):c.3160+3A>G single nucleotide variant not provided [RCV001893251] Chr11:74095225 [GRCh38]
Chr11:73806270 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.3550A>C (p.Ser1184Arg) single nucleotide variant not provided [RCV002022692] Chr11:74090904 [GRCh38]
Chr11:73801949 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.4144G>C (p.Ala1382Pro) single nucleotide variant Inborn genetic diseases [RCV004042747]|not provided [RCV001909302] Chr11:74078574 [GRCh38]
Chr11:73789619 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.5903A>T (p.Asp1968Val) single nucleotide variant not provided [RCV002044528] Chr11:74034257 [GRCh38]
Chr11:73745302 [GRCh37]
Chr11:11q13.4		 uncertain significance
NC_000011.9:g.(?_73745643)_(73881837_?)dup duplication not provided [RCV001946160] Chr11:73745643..73881837 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.832C>T (p.Arg278Trp) single nucleotide variant Inborn genetic diseases [RCV002551135]|not provided [RCV001872610] Chr11:74138843 [GRCh38]
Chr11:73849888 [GRCh37]
Chr11:11q13.4		 likely benign|uncertain significance
NM_001286577.2(C2CD3):c.1217+1G>A single nucleotide variant not provided [RCV001966632] Chr11:74132843 [GRCh38]
Chr11:73843888 [GRCh37]
Chr11:11q13.4		 likely pathogenic
NM_001286577.2(C2CD3):c.5104C>G (p.Leu1702Val) single nucleotide variant not provided [RCV001912903] Chr11:74054658 [GRCh38]
Chr11:73765703 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.5203C>G (p.Leu1735Val) single nucleotide variant Inborn genetic diseases [RCV004041160]|not provided [RCV001892023] Chr11:74049495 [GRCh38]
Chr11:73760540 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.4374_4394del (p.Asn1459_Val1465del) deletion not provided [RCV001892675] Chr11:74078324..74078344 [GRCh38]
Chr11:73789369..73789389 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.208T>G (p.Ser70Ala) single nucleotide variant Inborn genetic diseases [RCV004041186]|not provided [RCV001892210] Chr11:74168461 [GRCh38]
Chr11:73879506 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.6139A>G (p.Met2047Val) single nucleotide variant not provided [RCV002043864] Chr11:74034021 [GRCh38]
Chr11:73745066 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.1652C>T (p.Pro551Leu) single nucleotide variant not provided [RCV001909592] Chr11:74114462 [GRCh38]
Chr11:73825507 [GRCh37]
Chr11:11q13.4		 benign|uncertain significance
NM_001286577.2(C2CD3):c.2747C>A (p.Ser916Tyr) single nucleotide variant not provided [RCV002043163] Chr11:74098241 [GRCh38]
Chr11:73809286 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.3196C>T (p.Leu1066Phe) single nucleotide variant Inborn genetic diseases [RCV002545300]|not provided [RCV002041341] Chr11:74093964 [GRCh38]
Chr11:73805009 [GRCh37]
Chr11:11q13.4		 conflicting interpretations of pathogenicity|uncertain significance
NM_001286577.2(C2CD3):c.4871C>T (p.Thr1624Met) single nucleotide variant not provided [RCV001969274] Chr11:74074333 [GRCh38]
Chr11:73785378 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.1957A>T (p.Lys653Ter) single nucleotide variant not provided [RCV002007235] Chr11:74109039 [GRCh38]
Chr11:73820084 [GRCh37]
Chr11:11q13.4		 pathogenic
NM_001286577.2(C2CD3):c.3741G>A (p.Gln1247=) single nucleotide variant not provided [RCV002104345] Chr11:74085787 [GRCh38]
Chr11:73796832 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.1423A>G (p.Lys475Glu) single nucleotide variant not provided [RCV002042375] Chr11:74118325 [GRCh38]
Chr11:73829370 [GRCh37]
Chr11:11q13.4		 likely benign|uncertain significance
NM_001286577.2(C2CD3):c.2706_2710dup (p.His904fs) duplication not provided [RCV001941783] Chr11:74100546..74100547 [GRCh38]
Chr11:73811591..73811592 [GRCh37]
Chr11:11q13.4		 pathogenic
NM_001286577.2(C2CD3):c.4678T>C (p.Ser1560Pro) single nucleotide variant not provided [RCV001962862] Chr11:74074526 [GRCh38]
Chr11:73785571 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.1259C>T (p.Ser420Phe) single nucleotide variant Inborn genetic diseases [RCV002564346]|not provided [RCV001997521] Chr11:74123094 [GRCh38]
Chr11:73834139 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.4365G>T (p.Lys1455Asn) single nucleotide variant not provided [RCV001887255] Chr11:74078353 [GRCh38]
Chr11:73789398 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.5930G>A (p.Arg1977Gln) single nucleotide variant not provided [RCV001936732] Chr11:74034230 [GRCh38]
Chr11:73745275 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.5728C>G (p.Pro1910Ala) single nucleotide variant Inborn genetic diseases [RCV004040344]|Orofaciodigital syndrome type 14 [RCV004728874]|not provided [RCV001944621] Chr11:74037631 [GRCh38]
Chr11:73748676 [GRCh37]
Chr11:11q13.4		 likely benign|uncertain significance
NM_001286577.2(C2CD3):c.5726T>C (p.Leu1909Pro) single nucleotide variant Inborn genetic diseases [RCV002550372]|Orofaciodigital syndrome type 14 [RCV004728875]|not provided [RCV001944622] Chr11:74037633 [GRCh38]
Chr11:73748678 [GRCh37]
Chr11:11q13.4		 likely benign|uncertain significance
NM_001286577.2(C2CD3):c.6512A>C (p.Asn2171Thr) single nucleotide variant not provided [RCV002036824] Chr11:74033648 [GRCh38]
Chr11:73744693 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.869A>G (p.Gln290Arg) single nucleotide variant Inborn genetic diseases [RCV004044123]|not provided [RCV001917074] Chr11:74138806 [GRCh38]
Chr11:73849851 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.1973T>C (p.Ile658Thr) single nucleotide variant not provided [RCV001996291] Chr11:74106483 [GRCh38]
Chr11:73817528 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.5329G>A (p.Ala1777Thr) single nucleotide variant Inborn genetic diseases [RCV002543455]|not provided [RCV002037340] Chr11:74049369 [GRCh38]
Chr11:73760414 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.5405A>G (p.Tyr1802Cys) single nucleotide variant not provided [RCV001897288] Chr11:74048295 [GRCh38]
Chr11:73759340 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.1731-3T>C single nucleotide variant not provided [RCV001955290] Chr11:74113895 [GRCh38]
Chr11:73824940 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.3379G>A (p.Ala1127Thr) single nucleotide variant not provided [RCV001938072] Chr11:74092554 [GRCh38]
Chr11:73803599 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.6291C>A (p.Val2097=) single nucleotide variant not provided [RCV001943699] Chr11:74033869 [GRCh38]
Chr11:73744914 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.1844-14G>A single nucleotide variant not provided [RCV002046486] Chr11:74109166 [GRCh38]
Chr11:73820211 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.4864C>T (p.Arg1622Cys) single nucleotide variant Inborn genetic diseases [RCV004044687]|not provided [RCV001961731] Chr11:74074340 [GRCh38]
Chr11:73785385 [GRCh37]
Chr11:11q13.4		 likely benign|uncertain significance
NM_001286577.2(C2CD3):c.4499A>G (p.Asn1500Ser) single nucleotide variant not provided [RCV002017869] Chr11:74078219 [GRCh38]
Chr11:73789264 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.3026A>G (p.His1009Arg) single nucleotide variant not provided [RCV001899012] Chr11:74095362 [GRCh38]
Chr11:73806407 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.421C>G (p.His141Asp) single nucleotide variant Inborn genetic diseases [RCV002560574]|not provided [RCV001933896] Chr11:74161461 [GRCh38]
Chr11:73872506 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.3742C>T (p.Arg1248Cys) single nucleotide variant Inborn genetic diseases [RCV002555368]|Orofaciodigital syndrome type 14 [RCV002471184]|not provided [RCV001901713] Chr11:74085786 [GRCh38]
Chr11:73796831 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.3961G>A (p.Val1321Ile) single nucleotide variant Inborn genetic diseases [RCV004044479]|not provided [RCV001954373] Chr11:74084920 [GRCh38]
Chr11:73795965 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.5980A>G (p.Thr1994Ala) single nucleotide variant not provided [RCV001976590] Chr11:74034180 [GRCh38]
Chr11:73745225 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.1529T>C (p.Val510Ala) single nucleotide variant not provided [RCV001974254] Chr11:74114585 [GRCh38]
Chr11:73825630 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.5554C>T (p.Arg1852Trp) single nucleotide variant not provided [RCV002031120] Chr11:74042160 [GRCh38]
Chr11:73753205 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.5402C>T (p.Thr1801Met) single nucleotide variant Inborn genetic diseases [RCV002553673]|not provided [RCV001903221] Chr11:74048298 [GRCh38]
Chr11:73759343 [GRCh37]
Chr11:11q13.4		 likely benign|uncertain significance
NM_001286577.2(C2CD3):c.817A>G (p.Lys273Glu) single nucleotide variant not provided [RCV001971850] Chr11:74138858 [GRCh38]
Chr11:73849903 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.325+5G>A single nucleotide variant not provided [RCV001977578] Chr11:74168339 [GRCh38]
Chr11:73879384 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.4001-2del deletion not provided [RCV001954973] Chr11:74078719 [GRCh38]
Chr11:73789764 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.5241C>G (p.Ile1747Met) single nucleotide variant not provided [RCV002030514] Chr11:74049457 [GRCh38]
Chr11:73760502 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.3434G>A (p.Arg1145His) single nucleotide variant Inborn genetic diseases [RCV002562745]|not provided [RCV001955280] Chr11:74092499 [GRCh38]
Chr11:73803544 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.5090G>A (p.Arg1697Lys) single nucleotide variant not provided [RCV001877268] Chr11:74057406 [GRCh38]
Chr11:73768451 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.1010A>G (p.Lys337Arg) single nucleotide variant not provided [RCV001989519] Chr11:74133503 [GRCh38]
Chr11:73844548 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.2689G>A (p.Gly897Arg) single nucleotide variant not provided [RCV001918018] Chr11:74100568 [GRCh38]
Chr11:73811613 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.6389T>C (p.Leu2130Pro) single nucleotide variant not provided [RCV002033038] Chr11:74033771 [GRCh38]
Chr11:73744816 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.5819G>A (p.Gly1940Glu) single nucleotide variant not provided [RCV001883334] Chr11:74037540 [GRCh38]
Chr11:73748585 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.785A>T (p.Asn262Ile) single nucleotide variant Inborn genetic diseases [RCV002555677]|not provided [RCV001918156] Chr11:74138890 [GRCh38]
Chr11:73849935 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.3548G>T (p.Arg1183Leu) single nucleotide variant not provided [RCV002014798] Chr11:74090906 [GRCh38]
Chr11:73801951 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.2861G>C (p.Gly954Ala) single nucleotide variant not provided [RCV001885978] Chr11:74098127 [GRCh38]
Chr11:73809172 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.5102A>G (p.Glu1701Gly) single nucleotide variant not provided [RCV002050020] Chr11:74054660 [GRCh38]
Chr11:73765705 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.158C>A (p.Ala53Glu) single nucleotide variant not provided [RCV001957136] Chr11:74168511 [GRCh38]
Chr11:73879556 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.5506A>G (p.Thr1836Ala) single nucleotide variant Inborn genetic diseases [RCV003339798]|not provided [RCV001906047] Chr11:74042208 [GRCh38]
Chr11:73753253 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.670G>A (p.Glu224Lys) single nucleotide variant not provided [RCV002032239] Chr11:74139642 [GRCh38]
Chr11:73850687 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.52dup (p.Arg18fs) duplication not provided [RCV001957178] Chr11:74170740..74170741 [GRCh38]
Chr11:73881785..73881786 [GRCh37]
Chr11:11q13.4		 pathogenic
NM_001286577.2(C2CD3):c.2842C>T (p.Arg948Ter) single nucleotide variant not provided [RCV001960663] Chr11:74098146 [GRCh38]
Chr11:73809191 [GRCh37]
Chr11:11q13.4		 pathogenic
NM_001286577.2(C2CD3):c.2465C>A (p.Ser822Tyr) single nucleotide variant not provided [RCV001898664] Chr11:74103246 [GRCh38]
Chr11:73814291 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.5495+4A>G single nucleotide variant Orofaciodigital syndrome type 14 [RCV003146316]|not provided [RCV001901250] Chr11:74048201 [GRCh38]
Chr11:73759246 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.6815G>T (p.Gly2272Val) single nucleotide variant not provided [RCV001955199] Chr11:74028393 [GRCh38]
Chr11:73739438 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.1342G>C (p.Glu448Gln) single nucleotide variant not provided [RCV001897421] Chr11:74123011 [GRCh38]
Chr11:73834056 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.1396A>G (p.Ser466Gly) single nucleotide variant Inborn genetic diseases [RCV002555675]|not provided [RCV001916032] Chr11:74118352 [GRCh38]
Chr11:73829397 [GRCh37]
Chr11:11q13.4		 likely benign|uncertain significance
NM_001286577.2(C2CD3):c.6798G>C (p.Gln2266His) single nucleotide variant not provided [RCV001957267] Chr11:74033362 [GRCh38]
Chr11:73744407 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.2448T>G (p.Asp816Glu) single nucleotide variant not provided [RCV001996865] Chr11:74103263 [GRCh38]
Chr11:73814308 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.3342C>T (p.Cys1114=) single nucleotide variant not provided [RCV001916389] Chr11:74093818 [GRCh38]
Chr11:73804863 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.4568T>C (p.Leu1523Pro) single nucleotide variant not provided [RCV001996499] Chr11:74078150 [GRCh38]
Chr11:73789195 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.6558C>A (p.Ser2186Arg) single nucleotide variant not provided [RCV001939187] Chr11:74033602 [GRCh38]
Chr11:73744647 [GRCh37]
Chr11:11q13.4		 benign|uncertain significance
NM_001286577.2(C2CD3):c.395A>G (p.Asn132Ser) single nucleotide variant not provided [RCV002019116] Chr11:74161487 [GRCh38]
Chr11:73872532 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.6646A>C (p.Ser2216Arg) single nucleotide variant not provided [RCV002018056] Chr11:74033514 [GRCh38]
Chr11:73744559 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.4583C>G (p.Ala1528Gly) single nucleotide variant not provided [RCV001924324] Chr11:74078135 [GRCh38]
Chr11:73789180 [GRCh37]
Chr11:11q13.4		 likely benign|uncertain significance
NM_001286577.2(C2CD3):c.5731C>G (p.Leu1911Val) single nucleotide variant not provided [RCV001876501] Chr11:74037628 [GRCh38]
Chr11:73748673 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.2636T>A (p.Met879Lys) single nucleotide variant not provided [RCV001866273] Chr11:74100621 [GRCh38]
Chr11:73811666 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.2843G>A (p.Arg948Gln) single nucleotide variant not provided [RCV002050540] Chr11:74098145 [GRCh38]
Chr11:73809190 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.4112A>T (p.His1371Leu) single nucleotide variant not provided [RCV001864955] Chr11:74078606 [GRCh38]
Chr11:73789651 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.3131T>C (p.Val1044Ala) single nucleotide variant not provided [RCV001958092] Chr11:74095257 [GRCh38]
Chr11:73806302 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.3050C>T (p.Ala1017Val) single nucleotide variant not provided [RCV001958094] Chr11:74095338 [GRCh38]
Chr11:73806383 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.2070dup (p.Phe691fs) duplication not provided [RCV001950934] Chr11:74106385..74106386 [GRCh38]
Chr11:73817430..73817431 [GRCh37]
Chr11:11q13.4		 pathogenic
NM_001286577.2(C2CD3):c.3686T>G (p.Val1229Gly) single nucleotide variant not provided [RCV001936164] Chr11:74085842 [GRCh38]
Chr11:73796887 [GRCh37]
Chr11:11q13.4		 benign|uncertain significance
NM_001286577.2(C2CD3):c.3365G>T (p.Arg1122Ile) single nucleotide variant not provided [RCV001917002] Chr11:74092568 [GRCh38]
Chr11:73803613 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.6067C>G (p.Pro2023Ala) single nucleotide variant not provided [RCV002049914] Chr11:74034093 [GRCh38]
Chr11:73745138 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.3361G>A (p.Val1121Met) single nucleotide variant not provided [RCV001952382] Chr11:74092572 [GRCh38]
Chr11:73803617 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.6020C>T (p.Pro2007Leu) single nucleotide variant not provided [RCV001995008] Chr11:74034140 [GRCh38]
Chr11:73745185 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.1520+1G>C single nucleotide variant not provided [RCV002029475] Chr11:74118227 [GRCh38]
Chr11:73829272 [GRCh37]
Chr11:11q13.4		 likely pathogenic
NM_001286577.2(C2CD3):c.2483G>T (p.Cys828Phe) single nucleotide variant not provided [RCV001978289] Chr11:74103228 [GRCh38]
Chr11:73814273 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.258A>C (p.Lys86Asn) single nucleotide variant not provided [RCV001919143] Chr11:74168411 [GRCh38]
Chr11:73879456 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.484-17C>T single nucleotide variant not provided [RCV002191013] Chr11:74139845 [GRCh38]
Chr11:73850890 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.5661-13C>T single nucleotide variant not provided [RCV002185145] Chr11:74037711 [GRCh38]
Chr11:73748756 [GRCh37]
Chr11:11q13.4		 benign
NM_001286577.2(C2CD3):c.3142C>G (p.Pro1048Ala) single nucleotide variant C2CD3-related disorder [RCV003951018]|not provided [RCV002088726] Chr11:74095246 [GRCh38]
Chr11:73806291 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.7028G>A (p.Arg2343Gln) single nucleotide variant not provided [RCV002190690] Chr11:74013419 [GRCh38]
Chr11:73724464 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.1122C>T (p.Asp374=) single nucleotide variant C2CD3-related disorder [RCV003933541]|not provided [RCV002110339] Chr11:74132939 [GRCh38]
Chr11:73843984 [GRCh37]
Chr11:11q13.4		 benign|likely benign
NM_001286577.2(C2CD3):c.1843+8AC[2] microsatellite not provided [RCV002191506] Chr11:74113767..74113768 [GRCh38]
Chr11:73824812..73824813 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.3654A>G (p.Glu1218=) single nucleotide variant not provided [RCV002188217] Chr11:74085874 [GRCh38]
Chr11:73796919 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.2580+20A>G single nucleotide variant not provided [RCV002124980] Chr11:74103111 [GRCh38]
Chr11:73814156 [GRCh37]
Chr11:11q13.4		 benign
NM_001286577.2(C2CD3):c.5330C>A (p.Ala1777Glu) single nucleotide variant C2CD3-related disorder [RCV003923784]|not provided [RCV002148395] Chr11:74049368 [GRCh38]
Chr11:73760413 [GRCh37]
Chr11:11q13.4		 benign
NM_001286577.2(C2CD3):c.5349C>T (p.Thr1783=) single nucleotide variant not provided [RCV002168111] Chr11:74049349 [GRCh38]
Chr11:73760394 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.420C>T (p.Thr140=) single nucleotide variant not provided [RCV002205070] Chr11:74161462 [GRCh38]
Chr11:73872507 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.6225T>G (p.Asn2075Lys) single nucleotide variant C2CD3-related disorder [RCV003958829]|not provided [RCV002110405] Chr11:74033935 [GRCh38]
Chr11:73744980 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.2688C>T (p.Leu896=) single nucleotide variant not provided [RCV002072458] Chr11:74100569 [GRCh38]
Chr11:73811614 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.946C>G (p.Leu316Val) single nucleotide variant C2CD3-related disorder [RCV004754838]|Inborn genetic diseases [RCV003250449]|not provided [RCV002188244] Chr11:74138729 [GRCh38]
Chr11:73849774 [GRCh37]
Chr11:11q13.4		 benign|likely benign
NM_001286577.2(C2CD3):c.3687C>T (p.Val1229=) single nucleotide variant C2CD3-related disorder [RCV003903353]|not provided [RCV002111545] Chr11:74085841 [GRCh38]
Chr11:73796886 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.2979+13A>G single nucleotide variant not provided [RCV002148613] Chr11:74097996 [GRCh38]
Chr11:73809041 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.1520+17_1520+20del deletion not provided [RCV002075652] Chr11:74118208..74118211 [GRCh38]
Chr11:73829253..73829256 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.1353T>C (p.Phe451=) single nucleotide variant not provided [RCV002085930] Chr11:74123000 [GRCh38]
Chr11:73834045 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.6122C>T (p.Ala2041Val) single nucleotide variant not provided [RCV002085133] Chr11:74034038 [GRCh38]
Chr11:73745083 [GRCh37]
Chr11:11q13.4		 benign
NM_001286577.2(C2CD3):c.5091-15T>G single nucleotide variant not provided [RCV002088814] Chr11:74054686 [GRCh38]
Chr11:73765731 [GRCh37]
Chr11:11q13.4		 benign
NM_001286577.2(C2CD3):c.6309C>T (p.Asp2103=) single nucleotide variant not provided [RCV002085504] Chr11:74033851 [GRCh38]
Chr11:73744896 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.1584T>A (p.Ser528Arg) single nucleotide variant not provided [RCV002106014] Chr11:74114530 [GRCh38]
Chr11:73825575 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.3518-12C>T single nucleotide variant not provided [RCV002093303] Chr11:74090948 [GRCh38]
Chr11:73801993 [GRCh37]
Chr11:11q13.4		 benign
NM_001286577.2(C2CD3):c.4533C>T (p.Ser1511=) single nucleotide variant not provided [RCV002173383] Chr11:74078185 [GRCh38]
Chr11:73789230 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.441T>C (p.Phe147=) single nucleotide variant not provided [RCV002209489] Chr11:74161441 [GRCh38]
Chr11:73872486 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.2286C>T (p.Asn762=) single nucleotide variant not provided [RCV002149430] Chr11:74103425 [GRCh38]
Chr11:73814470 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.4001-12T>C single nucleotide variant not provided [RCV002116020] Chr11:74078729 [GRCh38]
Chr11:73789774 [GRCh37]
Chr11:11q13.4		 benign
NM_001286577.2(C2CD3):c.4603+15T>A single nucleotide variant not provided [RCV002132264] Chr11:74078100 [GRCh38]
Chr11:73789145 [GRCh37]
Chr11:11q13.4		 benign
NM_001286577.2(C2CD3):c.2940C>A (p.Ala980=) single nucleotide variant not provided [RCV002127708] Chr11:74098048 [GRCh38]
Chr11:73809093 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.955+11A>G single nucleotide variant not provided [RCV002111409] Chr11:74138709 [GRCh38]
Chr11:73849754 [GRCh37]
Chr11:11q13.4		 benign
NM_001286577.2(C2CD3):c.4110G>A (p.Thr1370=) single nucleotide variant not provided [RCV002210300] Chr11:74078608 [GRCh38]
Chr11:73789653 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.2193G>A (p.Lys731=) single nucleotide variant not provided [RCV002076685] Chr11:74103518 [GRCh38]
Chr11:73814563 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.2733-19A>T single nucleotide variant not provided [RCV002208575] Chr11:74098274 [GRCh38]
Chr11:73809319 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.5661-9T>G single nucleotide variant not provided [RCV002114270] Chr11:74037707 [GRCh38]
Chr11:73748752 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.2732+18del deletion not provided [RCV002171754] Chr11:74100507 [GRCh38]
Chr11:73811552 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.3656G>A (p.Arg1219Gln) single nucleotide variant not provided [RCV002132018] Chr11:74085872 [GRCh38]
Chr11:73796917 [GRCh37]
Chr11:11q13.4		 benign
NM_001286577.2(C2CD3):c.4000+17A>T single nucleotide variant not provided [RCV002077731] Chr11:74084864 [GRCh38]
Chr11:73795909 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.6251C>G (p.Thr2084Ser) single nucleotide variant C2CD3-related disorder [RCV003933406]|not provided [RCV002107278] Chr11:74033909 [GRCh38]
Chr11:73744954 [GRCh37]
Chr11:11q13.4		 likely benign|conflicting interpretations of pathogenicity
NM_001286577.2(C2CD3):c.726C>T (p.Cys242=) single nucleotide variant not provided [RCV002212560] Chr11:74138949 [GRCh38]
Chr11:73849994 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.1572G>A (p.Thr524=) single nucleotide variant not provided [RCV002173083] Chr11:74114542 [GRCh38]
Chr11:73825587 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.4332T>C (p.His1444=) single nucleotide variant not provided [RCV002109690] Chr11:74078386 [GRCh38]
Chr11:73789431 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.2085+11dup duplication not provided [RCV002126436] Chr11:74106359..74106360 [GRCh38]
Chr11:73817404..73817405 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.325+19A>G single nucleotide variant not provided [RCV002091496] Chr11:74168325 [GRCh38]
Chr11:73879370 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.6980A>G (p.Asn2327Ser) single nucleotide variant C2CD3-related disorder [RCV003903566]|not provided [RCV002151833] Chr11:74013467 [GRCh38]
Chr11:73724512 [GRCh37]
Chr11:11q13.4		 benign|likely benign
NM_001286577.2(C2CD3):c.4431G>A (p.Arg1477=) single nucleotide variant C2CD3-related disorder [RCV003913714]|not provided [RCV002115736] Chr11:74078287 [GRCh38]
Chr11:73789332 [GRCh37]
Chr11:11q13.4		 benign
NM_001286577.2(C2CD3):c.2085+7A>G single nucleotide variant not provided [RCV002134373] Chr11:74106364 [GRCh38]
Chr11:73817409 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.1884T>C (p.Phe628=) single nucleotide variant C2CD3-related disorder [RCV003933436]|not provided [RCV002108298] Chr11:74109112 [GRCh38]
Chr11:73820157 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.6216G>A (p.Arg2072=) single nucleotide variant not provided [RCV002170800] Chr11:74033944 [GRCh38]
Chr11:73744989 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.4000+10C>G single nucleotide variant not provided [RCV002091822] Chr11:74084871 [GRCh38]
Chr11:73795916 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.1520+13G>C single nucleotide variant not provided [RCV002114834] Chr11:74118215 [GRCh38]
Chr11:73829260 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.681C>T (p.Ala227=) single nucleotide variant not provided [RCV002193501] Chr11:74139631 [GRCh38]
Chr11:73850676 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.4179G>A (p.Leu1393=) single nucleotide variant not provided [RCV002172339] Chr11:74078539 [GRCh38]
Chr11:73789584 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.6117G>T (p.Arg2039Ser) single nucleotide variant not provided [RCV002125624] Chr11:74034043 [GRCh38]
Chr11:73745088 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.5769G>A (p.Gln1923=) single nucleotide variant C2CD3-related disorder [RCV003896064]|not provided [RCV002210593] Chr11:74037590 [GRCh38]
Chr11:73748635 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.6922-15C>T single nucleotide variant not provided [RCV002133511] Chr11:74013540 [GRCh38]
Chr11:73724585 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.484-20A>G single nucleotide variant not provided [RCV002114771] Chr11:74139848 [GRCh38]
Chr11:73850893 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.6323_6325dup (p.Glu2108dup) duplication not provided [RCV002212367] Chr11:74033834..74033835 [GRCh38]
Chr11:73744879..73744880 [GRCh37]
Chr11:11q13.4		 benign
NM_001286577.2(C2CD3):c.708-4dup duplication not provided [RCV002121077] Chr11:74138970..74138971 [GRCh38]
Chr11:73850015..73850016 [GRCh37]
Chr11:11q13.4		 benign
NM_001286577.2(C2CD3):c.4001-6C>T single nucleotide variant not provided [RCV002138297] Chr11:74078723 [GRCh38]
Chr11:73789768 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.6033T>G (p.Ala2011=) single nucleotide variant not provided [RCV002219513] Chr11:74034127 [GRCh38]
Chr11:73745172 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.4053T>C (p.His1351=) single nucleotide variant not provided [RCV002120682] Chr11:74078665 [GRCh38]
Chr11:73789710 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.6819C>T (p.Pro2273=) single nucleotide variant not provided [RCV002204814] Chr11:74028389 [GRCh38]
Chr11:73739434 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.3345-8G>A single nucleotide variant not provided [RCV002178726] Chr11:74092596 [GRCh38]
Chr11:73803641 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.1218-11T>C single nucleotide variant not provided [RCV002082982] Chr11:74123146 [GRCh38]
Chr11:73834191 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.6458C>T (p.Ala2153Val) single nucleotide variant not provided [RCV002123041] Chr11:74033702 [GRCh38]
Chr11:73744747 [GRCh37]
Chr11:11q13.4		 benign
NM_001286577.2(C2CD3):c.6660C>T (p.Asp2220=) single nucleotide variant not provided [RCV002137533] Chr11:74033500 [GRCh38]
Chr11:73744545 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.4098G>A (p.Ser1366=) single nucleotide variant not provided [RCV002098076] Chr11:74078620 [GRCh38]
Chr11:73789665 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.2086-19C>T single nucleotide variant not provided [RCV002216827] Chr11:74103644 [GRCh38]
Chr11:73814689 [GRCh37]
Chr11:11q13.4		 benign
NM_001286577.2(C2CD3):c.956-14T>C single nucleotide variant not provided [RCV002137762] Chr11:74133571 [GRCh38]
Chr11:73844616 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.3864G>A (p.Glu1288=) single nucleotide variant not provided [RCV002200371] Chr11:74085664 [GRCh38]
Chr11:73796709 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.1963-20T>C single nucleotide variant not provided [RCV002120126] Chr11:74106513 [GRCh38]
Chr11:73817558 [GRCh37]
Chr11:11q13.4		 benign
NM_001286577.2(C2CD3):c.3792C>T (p.His1264=) single nucleotide variant not provided [RCV002162554] Chr11:74085736 [GRCh38]
Chr11:73796781 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.3517+15G>A single nucleotide variant not provided [RCV002142463] Chr11:74092401 [GRCh38]
Chr11:73803446 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.2562G>A (p.Pro854=) single nucleotide variant C2CD3-related disorder [RCV003933668]|not provided [RCV002184303] Chr11:74103149 [GRCh38]
Chr11:73814194 [GRCh37]
Chr11:11q13.4		 benign|likely benign
NM_001286577.2(C2CD3):c.6487G>T (p.Val2163Phe) single nucleotide variant not provided [RCV002175872] Chr11:74033673 [GRCh38]
Chr11:73744718 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.5604T>C (p.Asp1868=) single nucleotide variant not provided [RCV002136157] Chr11:74042110 [GRCh38]
Chr11:73753155 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.2318C>G (p.Pro773Arg) single nucleotide variant not provided [RCV002178096] Chr11:74103393 [GRCh38]
Chr11:73814438 [GRCh37]
Chr11:11q13.4		 benign
NM_001286577.2(C2CD3):c.5881+14C>T single nucleotide variant not provided [RCV002123701] Chr11:74037464 [GRCh38]
Chr11:73748509 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.6891A>C (p.Ala2297=) single nucleotide variant not provided [RCV002099198] Chr11:74028317 [GRCh38]
Chr11:73739362 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.1776C>T (p.Ser592=) single nucleotide variant not provided [RCV002137081] Chr11:74113847 [GRCh38]
Chr11:73824892 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.718C>G (p.His240Asp) single nucleotide variant C2CD3-related disorder [RCV003913557]|not provided [RCV002184830] Chr11:74138957 [GRCh38]
Chr11:73850002 [GRCh37]
Chr11:11q13.4		 benign
NM_001286577.2(C2CD3):c.6420C>T (p.His2140=) single nucleotide variant not provided [RCV002098241] Chr11:74033740 [GRCh38]
Chr11:73744785 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.5882-334A>G single nucleotide variant not provided [RCV002137506] Chr11:74034612 [GRCh38]
Chr11:73745657 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.1635C>A (p.Ile545=) single nucleotide variant not provided [RCV002177578] Chr11:74114479 [GRCh38]
Chr11:73825524 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.2673A>G (p.Gly891=) single nucleotide variant not provided [RCV002217267] Chr11:74100584 [GRCh38]
Chr11:73811629 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.2777T>C (p.Val926Ala) single nucleotide variant C2CD3-related disorder [RCV004754860]|Inborn genetic diseases [RCV003375589]|not provided [RCV002082313] Chr11:74098211 [GRCh38]
Chr11:73809256 [GRCh37]
Chr11:11q13.4		 benign|likely benign
NM_001286577.2(C2CD3):c.5362-19T>C single nucleotide variant not provided [RCV002159114] Chr11:74048357 [GRCh38]
Chr11:73759402 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.3641+16A>G single nucleotide variant not provided [RCV002159115] Chr11:74090797 [GRCh38]
Chr11:73801842 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.6489T>G (p.Val2163=) single nucleotide variant C2CD3-related disorder [RCV003923456]|not provided [RCV002176781] Chr11:74033671 [GRCh38]
Chr11:73744716 [GRCh37]
Chr11:11q13.4		 benign|likely benign
NM_001286577.2(C2CD3):c.3843T>C (p.Cys1281=) single nucleotide variant not provided [RCV002119320] Chr11:74085685 [GRCh38]
Chr11:73796730 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.6922-18T>C single nucleotide variant not provided [RCV002177137] Chr11:74013543 [GRCh38]
Chr11:73724588 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.4902G>A (p.Thr1634=) single nucleotide variant not provided [RCV003116866] Chr11:74074302 [GRCh38]
Chr11:73785347 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.5720C>T (p.Pro1907Leu) single nucleotide variant not provided [RCV003115369] Chr11:74037639 [GRCh38]
Chr11:73748684 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.1691A>G (p.Tyr564Cys) single nucleotide variant not provided [RCV003114847] Chr11:74114423 [GRCh38]
Chr11:73825468 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.6538C>G (p.Leu2180Val) single nucleotide variant not provided [RCV003116110] Chr11:74033622 [GRCh38]
Chr11:73744667 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.3424A>G (p.Thr1142Ala) single nucleotide variant not provided [RCV003116215] Chr11:74092509 [GRCh38]
Chr11:73803554 [GRCh37]
Chr11:11q13.4		 uncertain significance
NC_000011.9:g.(?_73801838)_(73802001_?)dup duplication not provided [RCV003119616] Chr11:73801838..73802001 [GRCh37]
Chr11:11q13.4		 likely pathogenic
NC_000011.9:g.(?_73872424)_(73872621_?)dup duplication not provided [RCV003119617] Chr11:73872424..73872621 [GRCh37]
Chr11:11q13.4		 likely pathogenic
NC_000011.9:g.(?_71146421)_(75283128_?)dup duplication 3-methylglutaconic aciduria, type VIIB [RCV003122786] Chr11:71146421..75283128 [GRCh37]
Chr11:11q13.4-13.5		 uncertain significance
GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3 copy number gain MISSED ABORTION [RCV002282973] Chr11:32799481..134938470 [GRCh37]
Chr11:11p13-q25		 pathogenic
NM_001286577.2(C2CD3):c.3345-1G>A single nucleotide variant Orofaciodigital syndrome type 14 [RCV003231052] Chr11:74092589 [GRCh38]
Chr11:73803634 [GRCh37]
Chr11:11q13.4		 likely pathogenic
NM_001286577.2(C2CD3):c.773A>T (p.Gln258Leu) single nucleotide variant not provided [RCV002297508] Chr11:74138902 [GRCh38]
Chr11:73849947 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.1369T>C (p.Ser457Pro) single nucleotide variant Inborn genetic diseases [RCV003281174] Chr11:74118379 [GRCh38]
Chr11:73829424 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.4312C>T (p.Arg1438Cys) single nucleotide variant Inborn genetic diseases [RCV003303873] Chr11:74078406 [GRCh38]
Chr11:73789451 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.6435_6436dup (p.Ser2146fs) duplication not provided [RCV002474124] Chr11:74033723..74033724 [GRCh38]
Chr11:73744768..73744769 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.112C>T (p.Arg38Cys) single nucleotide variant not provided [RCV002474009] Chr11:74168557 [GRCh38]
Chr11:73879602 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.4213G>A (p.Ala1405Thr) single nucleotide variant not provided [RCV002304400] Chr11:74078505 [GRCh38]
Chr11:73789550 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.4860A>C (p.Glu1620Asp) single nucleotide variant not provided [RCV002296443] Chr11:74074344 [GRCh38]
Chr11:73785389 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.653T>C (p.Ile218Thr) single nucleotide variant not provided [RCV002301755] Chr11:74139659 [GRCh38]
Chr11:73850704 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.5457T>G (p.His1819Gln) single nucleotide variant not provided [RCV002296813] Chr11:74048243 [GRCh38]
Chr11:73759288 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.705G>A (p.Pro235=) single nucleotide variant not provided [RCV003095641] Chr11:74139607 [GRCh38]
Chr11:73850652 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.1390T>C (p.Phe464Leu) single nucleotide variant not provided [RCV002842058] Chr11:74118358 [GRCh38]
Chr11:73829403 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.5551C>T (p.Arg1851Cys) single nucleotide variant not provided [RCV002751506] Chr11:74042163 [GRCh38]
Chr11:73753208 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.4970G>A (p.Arg1657Gln) single nucleotide variant not provided [RCV002904693] Chr11:74057526 [GRCh38]
Chr11:73768571 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.2969_2972delinsGGTTTACA (p.Ser990fs) indel Orofaciodigital syndrome type 14 [RCV002510289]|not provided [RCV002571595] Chr11:74098016..74098019 [GRCh38]
Chr11:73809061..73809064 [GRCh37]
Chr11:11q13.4		 pathogenic|likely pathogenic
NM_001286577.2(C2CD3):c.2360C>T (p.Ser787Phe) single nucleotide variant Inborn genetic diseases [RCV002968324] Chr11:74103351 [GRCh38]
Chr11:73814396 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.1337T>C (p.Leu446Pro) single nucleotide variant not provided [RCV002994019] Chr11:74123016 [GRCh38]
Chr11:73834061 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.5443G>A (p.Asp1815Asn) single nucleotide variant Inborn genetic diseases [RCV002748787] Chr11:74048257 [GRCh38]
Chr11:73759302 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.2085+3A>G single nucleotide variant not provided [RCV002991702] Chr11:74106368 [GRCh38]
Chr11:73817413 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.400C>A (p.Leu134Ile) single nucleotide variant not provided [RCV002858395] Chr11:74161482 [GRCh38]
Chr11:73872527 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.3336C>G (p.Ile1112Met) single nucleotide variant not provided [RCV002681628] Chr11:74093824 [GRCh38]
Chr11:73804869 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.2706C>A (p.Pro902=) single nucleotide variant not provided [RCV002815717] Chr11:74100551 [GRCh38]
Chr11:73811596 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.2085+20G>C single nucleotide variant not provided [RCV002771112] Chr11:74106351 [GRCh38]
Chr11:73817396 [GRCh37]
Chr11:11q13.4		 benign
NM_001286577.2(C2CD3):c.181G>C (p.Val61Leu) single nucleotide variant not provided [RCV002968047] Chr11:74168488 [GRCh38]
Chr11:73879533 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.6498G>A (p.Glu2166=) single nucleotide variant not provided [RCV002907834] Chr11:74033662 [GRCh38]
Chr11:73744707 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.731C>T (p.Ala244Val) single nucleotide variant not provided [RCV002613806] Chr11:74138944 [GRCh38]
Chr11:73849989 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.6429G>A (p.Arg2143=) single nucleotide variant not provided [RCV002907883] Chr11:74033731 [GRCh38]
Chr11:73744776 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.3221A>G (p.Asn1074Ser) single nucleotide variant Inborn genetic diseases [RCV002732825] Chr11:74093939 [GRCh38]
Chr11:73804984 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.2452A>G (p.Ile818Val) single nucleotide variant not provided [RCV002907891] Chr11:74103259 [GRCh38]
Chr11:73814304 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.4684del (p.Ser1562fs) deletion not provided [RCV002690206] Chr11:74074520 [GRCh38]
Chr11:73785565 [GRCh37]
Chr11:11q13.4		 pathogenic
NM_001286577.2(C2CD3):c.197G>A (p.Trp66Ter) single nucleotide variant not provided [RCV002819928] Chr11:74168472 [GRCh38]
Chr11:73879517 [GRCh37]
Chr11:11q13.4		 pathogenic
NM_001286577.2(C2CD3):c.4720A>G (p.Met1574Val) single nucleotide variant Inborn genetic diseases [RCV004068365]|not provided [RCV002996019] Chr11:74074484 [GRCh38]
Chr11:73785529 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.3182G>C (p.Arg1061Thr) single nucleotide variant Orofaciodigital syndrome type 14 [RCV003333224]|not provided [RCV002690449] Chr11:74093978 [GRCh38]
Chr11:73805023 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.1764C>G (p.Gly588=) single nucleotide variant not provided [RCV002843306] Chr11:74113859 [GRCh38]
Chr11:73824904 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.6206T>A (p.Ile2069Asn) single nucleotide variant not provided [RCV003013504] Chr11:74033954 [GRCh38]
Chr11:73744999 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.3391T>G (p.Leu1131Val) single nucleotide variant not provided [RCV002756289] Chr11:74092542 [GRCh38]
Chr11:73803587 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.6987C>T (p.Leu2329=) single nucleotide variant not provided [RCV002775471] Chr11:74013460 [GRCh38]
Chr11:73724505 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.642C>A (p.Asp214Glu) single nucleotide variant not provided [RCV002819249] Chr11:74139670 [GRCh38]
Chr11:73850715 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.6434G>A (p.Gly2145Asp) single nucleotide variant not provided [RCV003011827] Chr11:74033726 [GRCh38]
Chr11:73744771 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.4928G>A (p.Arg1643Lys) single nucleotide variant not provided [RCV002730210] Chr11:74074276 [GRCh38]
Chr11:73785321 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.1533ACA[1] (p.Gln513del) microsatellite not provided [RCV002861880] Chr11:74114576..74114578 [GRCh38]
Chr11:73825621..73825623 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.4643C>T (p.Ser1548Leu) single nucleotide variant not provided [RCV002751402] Chr11:74074561 [GRCh38]
Chr11:73785606 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.6951C>T (p.Leu2317=) single nucleotide variant not provided [RCV002730701] Chr11:74013496 [GRCh38]
Chr11:73724541 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.1240T>A (p.Phe414Ile) single nucleotide variant Inborn genetic diseases [RCV002970467] Chr11:74123113 [GRCh38]
Chr11:73834158 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.3641A>G (p.Lys1214Arg) single nucleotide variant Inborn genetic diseases [RCV003085138]|not provided [RCV003095407] Chr11:74090813 [GRCh38]
Chr11:73801858 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.6741C>T (p.Asp2247=) single nucleotide variant not provided [RCV002776504] Chr11:74033419 [GRCh38]
Chr11:73744464 [GRCh37]
Chr11:11q13.4		 benign
NM_001286577.2(C2CD3):c.523A>G (p.Ser175Gly) single nucleotide variant not provided [RCV002968123] Chr11:74139789 [GRCh38]
Chr11:73850834 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.3743G>A (p.Arg1248His) single nucleotide variant not provided [RCV002614983] Chr11:74085785 [GRCh38]
Chr11:73796830 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.5151A>G (p.Lys1717=) single nucleotide variant not provided [RCV002971225] Chr11:74054611 [GRCh38]
Chr11:73765656 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.2581-9C>T single nucleotide variant not provided [RCV003032634] Chr11:74100685 [GRCh38]
Chr11:73811730 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.3350A>G (p.Tyr1117Cys) single nucleotide variant Inborn genetic diseases [RCV003012631] Chr11:74092583 [GRCh38]
Chr11:73803628 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.5702G>A (p.Arg1901His) single nucleotide variant not provided [RCV002975316] Chr11:74037657 [GRCh38]
Chr11:73748702 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.1404G>T (p.Glu468Asp) single nucleotide variant not provided [RCV002819793] Chr11:74118344 [GRCh38]
Chr11:73829389 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.6931G>A (p.Glu2311Lys) single nucleotide variant not provided [RCV002947579] Chr11:74013516 [GRCh38]
Chr11:73724561 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.5555G>A (p.Arg1852Gln) single nucleotide variant Inborn genetic diseases [RCV003103138]|not provided [RCV002462606] Chr11:74042159 [GRCh38]
Chr11:73753204 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.6320G>A (p.Arg2107Lys) single nucleotide variant not provided [RCV002881967] Chr11:74033840 [GRCh38]
Chr11:73744885 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.5090+13C>T single nucleotide variant not provided [RCV002571890] Chr11:74057393 [GRCh38]
Chr11:73768438 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.1275A>G (p.Pro425=) single nucleotide variant not provided [RCV002639804] Chr11:74123078 [GRCh38]
Chr11:73834123 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.4115G>A (p.Arg1372His) single nucleotide variant not provided [RCV002785776] Chr11:74078603 [GRCh38]
Chr11:73789648 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.6445C>G (p.Gln2149Glu) single nucleotide variant not provided [RCV002663165] Chr11:74033715 [GRCh38]
Chr11:73744760 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.4952-16C>T single nucleotide variant not provided [RCV002571973] Chr11:74057560 [GRCh38]
Chr11:73768605 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.3938G>A (p.Cys1313Tyr) single nucleotide variant Inborn genetic diseases [RCV002708344] Chr11:74084943 [GRCh38]
Chr11:73795988 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.4047A>G (p.Leu1349=) single nucleotide variant not provided [RCV002571982] Chr11:74078671 [GRCh38]
Chr11:73789716 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.4550A>G (p.Tyr1517Cys) single nucleotide variant Inborn genetic diseases [RCV002657808]|not provided [RCV002623203] Chr11:74078168 [GRCh38]
Chr11:73789213 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.3246G>C (p.Leu1082=) single nucleotide variant not provided [RCV002800186] Chr11:74093914 [GRCh38]
Chr11:73804959 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.6233C>T (p.Thr2078Ile) single nucleotide variant not provided [RCV003021763] Chr11:74033927 [GRCh38]
Chr11:73744972 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.6472G>T (p.Ala2158Ser) single nucleotide variant not provided [RCV003039566] Chr11:74033688 [GRCh38]
Chr11:73744733 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.5703C>T (p.Arg1901=) single nucleotide variant not provided [RCV002622806] Chr11:74037656 [GRCh38]
Chr11:73748701 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.5749dup (p.Thr1917fs) duplication not provided [RCV002593309] Chr11:74037609..74037610 [GRCh38]
Chr11:73748654..73748655 [GRCh37]
Chr11:11q13.4		 pathogenic
NM_001286577.2(C2CD3):c.707+7A>G single nucleotide variant not provided [RCV003078502] Chr11:74139598 [GRCh38]
Chr11:73850643 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.4328A>T (p.Asp1443Val) single nucleotide variant Inborn genetic diseases [RCV002707990] Chr11:74078390 [GRCh38]
Chr11:73789435 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.2424G>A (p.Leu808=) single nucleotide variant not provided [RCV003036569] Chr11:74103287 [GRCh38]
Chr11:73814332 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.956-20T>C single nucleotide variant not provided [RCV002886341] Chr11:74133577 [GRCh38]
Chr11:73844622 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.2085+5G>A single nucleotide variant Inborn genetic diseases [RCV002637612]|not provided [RCV002637611] Chr11:74106366 [GRCh38]
Chr11:73817411 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.3415A>G (p.Met1139Val) single nucleotide variant Inborn genetic diseases [RCV003348865]|not provided [RCV002590376] Chr11:74092518 [GRCh38]
Chr11:73803563 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.6552A>G (p.Gln2184=) single nucleotide variant not provided [RCV002622364] Chr11:74033608 [GRCh38]
Chr11:73744653 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.5413T>G (p.Phe1805Val) single nucleotide variant not provided [RCV002927688] Chr11:74048287 [GRCh38]
Chr11:73759332 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.2375A>G (p.Asn792Ser) single nucleotide variant Inborn genetic diseases [RCV003250817]|not provided [RCV002640336] Chr11:74103336 [GRCh38]
Chr11:73814381 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.5661-13C>G single nucleotide variant not provided [RCV002571884] Chr11:74037711 [GRCh38]
Chr11:73748756 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.5633C>T (p.Ser1878Phe) single nucleotide variant Inborn genetic diseases [RCV002845302] Chr11:74042081 [GRCh38]
Chr11:73753126 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.3548G>A (p.Arg1183His) single nucleotide variant Inborn genetic diseases [RCV004064315]|not provided [RCV002569640] Chr11:74090906 [GRCh38]
Chr11:73801951 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.1830A>C (p.Lys610Asn) single nucleotide variant not provided [RCV002795302] Chr11:74113793 [GRCh38]
Chr11:73824838 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.5516A>G (p.Gln1839Arg) single nucleotide variant not provided [RCV003035657] Chr11:74042198 [GRCh38]
Chr11:73753243 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.6128C>T (p.Pro2043Leu) single nucleotide variant not provided [RCV002847599] Chr11:74034032 [GRCh38]
Chr11:73745077 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.553A>G (p.Thr185Ala) single nucleotide variant not provided [RCV002591050] Chr11:74139759 [GRCh38]
Chr11:73850804 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.3910+15A>T single nucleotide variant not provided [RCV002621170] Chr11:74085603 [GRCh38]
Chr11:73796648 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.5334G>A (p.Arg1778=) single nucleotide variant not provided [RCV002590739] Chr11:74049364 [GRCh38]
Chr11:73760409 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.4744T>A (p.Ser1582Thr) single nucleotide variant not provided [RCV002621320] Chr11:74074460 [GRCh38]
Chr11:73785505 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.1197_1199dup (p.Ile400_Gln401insIle) duplication not provided [RCV002570080] Chr11:74132861..74132862 [GRCh38]
Chr11:73843906..73843907 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.6668A>G (p.Asp2223Gly) single nucleotide variant not provided [RCV002760834] Chr11:74033492 [GRCh38]
Chr11:73744537 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.6092G>A (p.Gly2031Glu) single nucleotide variant not provided [RCV002621565] Chr11:74034068 [GRCh38]
Chr11:73745113 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.3028A>G (p.Ile1010Val) single nucleotide variant not provided [RCV002979583] Chr11:74095360 [GRCh38]
Chr11:73806405 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.2143A>G (p.Ser715Gly) single nucleotide variant not provided [RCV002820898] Chr11:74103568 [GRCh38]
Chr11:73814613 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.383G>A (p.Arg128Lys) single nucleotide variant not provided [RCV002979256] Chr11:74161499 [GRCh38]
Chr11:73872544 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.2837G>A (p.Ser946Asn) single nucleotide variant Inborn genetic diseases [RCV002949918] Chr11:74098151 [GRCh38]
Chr11:73809196 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.107A>G (p.Gln36Arg) single nucleotide variant Inborn genetic diseases [RCV002821923] Chr11:74168562 [GRCh38]
Chr11:73879607 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.4379A>G (p.Lys1460Arg) single nucleotide variant Inborn genetic diseases [RCV002911269] Chr11:74078339 [GRCh38]
Chr11:73789384 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.3620G>A (p.Cys1207Tyr) single nucleotide variant not provided [RCV002736336] Chr11:74090834 [GRCh38]
Chr11:73801879 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.6564G>A (p.Thr2188=) single nucleotide variant not provided [RCV002780409] Chr11:74033596 [GRCh38]
Chr11:73744641 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.4933A>G (p.Met1645Val) single nucleotide variant not provided [RCV002622207] Chr11:74074271 [GRCh38]
Chr11:73785316 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.5881+3A>G single nucleotide variant not provided [RCV003054374] Chr11:74037475 [GRCh38]
Chr11:73748520 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.3045G>A (p.Gly1015=) single nucleotide variant not provided [RCV002636954] Chr11:74095343 [GRCh38]
Chr11:73806388 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.269C>G (p.Thr90Arg) single nucleotide variant Inborn genetic diseases [RCV002625458]|not provided [RCV002590802] Chr11:74168400 [GRCh38]
Chr11:73879445 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.982C>G (p.Arg328Gly) single nucleotide variant not provided [RCV002705434] Chr11:74133531 [GRCh38]
Chr11:73844576 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.3652G>A (p.Glu1218Lys) single nucleotide variant not provided [RCV002824234] Chr11:74085876 [GRCh38]
Chr11:73796921 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.4955G>A (p.Ser1652Asn) single nucleotide variant not provided [RCV003002238] Chr11:74057541 [GRCh38]
Chr11:73768586 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.4039G>T (p.Gly1347Trp) single nucleotide variant not provided [RCV002706122] Chr11:74078679 [GRCh38]
Chr11:73789724 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.3480G>A (p.Arg1160=) single nucleotide variant not provided [RCV003036332] Chr11:74092453 [GRCh38]
Chr11:73803498 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.5121A>G (p.Gln1707=) single nucleotide variant C2CD3-related disorder [RCV004754891]|not provided [RCV002618987] Chr11:74054641 [GRCh38]
Chr11:73765686 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.2982A>G (p.Ala994=) single nucleotide variant not provided [RCV002760805] Chr11:74095406 [GRCh38]
Chr11:73806451 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.6156C>T (p.Asp2052=) single nucleotide variant not provided [RCV002847584] Chr11:74034004 [GRCh38]
Chr11:73745049 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.5330C>G (p.Ala1777Gly) single nucleotide variant Inborn genetic diseases [RCV002782394] Chr11:74049368 [GRCh38]
Chr11:73760413 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.6385T>C (p.Phe2129Leu) single nucleotide variant not provided [RCV002756979] Chr11:74033775 [GRCh38]
Chr11:73744820 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.5156A>T (p.Asp1719Val) single nucleotide variant not provided [RCV002695878] Chr11:74049542 [GRCh38]
Chr11:73760587 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.1276T>C (p.Ser426Pro) single nucleotide variant Inborn genetic diseases [RCV002797560] Chr11:74123077 [GRCh38]
Chr11:73834122 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.2401_2402del (p.Ser801fs) microsatellite not provided [RCV002889408] Chr11:74103309..74103310 [GRCh38]
Chr11:73814354..73814355 [GRCh37]
Chr11:11q13.4		 pathogenic
NM_001286577.2(C2CD3):c.3855G>A (p.Glu1285=) single nucleotide variant not provided [RCV002694877] Chr11:74085673 [GRCh38]
Chr11:73796718 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.4393G>T (p.Val1465Phe) single nucleotide variant Inborn genetic diseases [RCV002784823] Chr11:74078325 [GRCh38]
Chr11:73789370 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.464A>G (p.Lys155Arg) single nucleotide variant not provided [RCV002659171] Chr11:74161418 [GRCh38]
Chr11:73872463 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.2619G>A (p.Arg873=) single nucleotide variant not provided [RCV003038355] Chr11:74100638 [GRCh38]
Chr11:73811683 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.1344G>T (p.Glu448Asp) single nucleotide variant Inborn genetic diseases [RCV003059849]|not provided [RCV003036961] Chr11:74123009 [GRCh38]
Chr11:73834054 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.5882-339T>G single nucleotide variant not provided [RCV002785372] Chr11:74034617 [GRCh38]
Chr11:73745662 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.3804A>C (p.Thr1268=) single nucleotide variant not provided [RCV002691021] Chr11:74085724 [GRCh38]
Chr11:73796769 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.593A>C (p.Asn198Thr) single nucleotide variant Inborn genetic diseases [RCV002783011] Chr11:74139719 [GRCh38]
Chr11:73850764 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.1375A>G (p.Thr459Ala) single nucleotide variant not provided [RCV002638291] Chr11:74118373 [GRCh38]
Chr11:73829418 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.3642-14C>A single nucleotide variant not provided [RCV002695680] Chr11:74085900 [GRCh38]
Chr11:73796945 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.3911-10G>A single nucleotide variant not provided [RCV002795780] Chr11:74084980 [GRCh38]
Chr11:73796025 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.5565A>G (p.Glu1855=) single nucleotide variant not provided [RCV002619612] Chr11:74042149 [GRCh38]
Chr11:73753194 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.1819G>A (p.Ala607Thr) single nucleotide variant not provided [RCV002780922] Chr11:74113804 [GRCh38]
Chr11:73824849 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.4808_4824del (p.His1603fs) deletion not provided [RCV002780250] Chr11:74074380..74074396 [GRCh38]
Chr11:73785425..73785441 [GRCh37]
Chr11:11q13.4		 pathogenic
NM_001286577.2(C2CD3):c.1488G>A (p.Lys496=) single nucleotide variant not provided [RCV002760565] Chr11:74118260 [GRCh38]
Chr11:73829305 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.5425A>G (p.Met1809Val) single nucleotide variant Inborn genetic diseases [RCV004067620]|not provided [RCV002690647] Chr11:74048275 [GRCh38]
Chr11:73759320 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.4829C>G (p.Thr1610Ser) single nucleotide variant Inborn genetic diseases [RCV004066966]|not provided [RCV002918820] Chr11:74074375 [GRCh38]
Chr11:73785420 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.2581-8T>C single nucleotide variant not provided [RCV002917657] Chr11:74100684 [GRCh38]
Chr11:73811729 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.1997G>A (p.Arg666Gln) single nucleotide variant Inborn genetic diseases [RCV002984221] Chr11:74106459 [GRCh38]
Chr11:73817504 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.6786G>A (p.Thr2262=) single nucleotide variant not provided [RCV002627306] Chr11:74033374 [GRCh38]
Chr11:73744419 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.5820G>C (p.Gly1940=) single nucleotide variant not provided [RCV002805342] Chr11:74037539 [GRCh38]
Chr11:73748584 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.163C>T (p.Pro55Ser) single nucleotide variant not provided [RCV002574275] Chr11:74168506 [GRCh38]
Chr11:73879551 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.289C>T (p.Arg97Cys) single nucleotide variant Inborn genetic diseases [RCV002664783] Chr11:74168380 [GRCh38]
Chr11:73879425 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.1089-10C>G single nucleotide variant not provided [RCV002830140] Chr11:74132982 [GRCh38]
Chr11:73844027 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.5155+18A>G single nucleotide variant not provided [RCV002574385] Chr11:74054589 [GRCh38]
Chr11:73765634 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.4038C>G (p.Asp1346Glu) single nucleotide variant not provided [RCV002701556] Chr11:74078680 [GRCh38]
Chr11:73789725 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.1579C>T (p.Leu527=) single nucleotide variant not provided [RCV002593508] Chr11:74114535 [GRCh38]
Chr11:73825580 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.1018C>T (p.Pro340Ser) single nucleotide variant not provided [RCV002595383] Chr11:74133495 [GRCh38]
Chr11:73844540 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.982C>T (p.Arg328Cys) single nucleotide variant not provided [RCV002667330] Chr11:74133531 [GRCh38]
Chr11:73844576 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.3106C>G (p.Pro1036Ala) single nucleotide variant not provided [RCV002594526] Chr11:74095282 [GRCh38]
Chr11:73806327 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.5090+12_5090+18del deletion not provided [RCV002851841] Chr11:74057388..74057394 [GRCh38]
Chr11:73768433..73768439 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.4589C>T (p.Thr1530Met) single nucleotide variant not provided [RCV002929022] Chr11:74078129 [GRCh38]
Chr11:73789174 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.4901C>T (p.Thr1634Met) single nucleotide variant Inborn genetic diseases [RCV002572955]|not provided [RCV002583437] Chr11:74074303 [GRCh38]
Chr11:73785348 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.530A>G (p.His177Arg) single nucleotide variant not provided [RCV003023236] Chr11:74139782 [GRCh38]
Chr11:73850827 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.1158T>A (p.Asn386Lys) single nucleotide variant not provided [RCV003040532] Chr11:74132903 [GRCh38]
Chr11:73843948 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.3132G>A (p.Val1044=) single nucleotide variant not provided [RCV003057896] Chr11:74095256 [GRCh38]
Chr11:73806301 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.1577C>T (p.Thr526Ile) single nucleotide variant not provided [RCV002914996] Chr11:74114537 [GRCh38]
Chr11:73825582 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.6219C>T (p.Thr2073=) single nucleotide variant not provided [RCV002594571] Chr11:74033941 [GRCh38]
Chr11:73744986 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.2621T>C (p.Leu874Pro) single nucleotide variant Inborn genetic diseases [RCV004073354]|not provided [RCV002574491] Chr11:74100636 [GRCh38]
Chr11:73811681 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.3756T>C (p.Pro1252=) single nucleotide variant not provided [RCV002851164] Chr11:74085772 [GRCh38]
Chr11:73796817 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.707+16A>G single nucleotide variant not provided [RCV002643566] Chr11:74139589 [GRCh38]
Chr11:73850634 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.4507G>A (p.Val1503Met) single nucleotide variant Inborn genetic diseases [RCV002697515] Chr11:74078211 [GRCh38]
Chr11:73789256 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.3642-14C>T single nucleotide variant not provided [RCV002573814] Chr11:74085900 [GRCh38]
Chr11:73796945 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.4718C>G (p.Ser1573Cys) single nucleotide variant not provided [RCV002575287] Chr11:74074486 [GRCh38]
Chr11:73785531 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.503C>T (p.Pro168Leu) single nucleotide variant not provided [RCV002786508] Chr11:74139809 [GRCh38]
Chr11:73850854 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.377T>C (p.Ile126Thr) single nucleotide variant not provided [RCV002667371] Chr11:74161505 [GRCh38]
Chr11:73872550 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.6406G>A (p.Ala2136Thr) single nucleotide variant not provided [RCV002741695] Chr11:74033754 [GRCh38]
Chr11:73744799 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.5998C>T (p.Arg2000Ter) single nucleotide variant not provided [RCV002766393] Chr11:74034162 [GRCh38]
Chr11:73745207 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.2616A>G (p.Glu872=) single nucleotide variant not provided [RCV002852625] Chr11:74100641 [GRCh38]
Chr11:73811686 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.2363A>G (p.His788Arg) single nucleotide variant not provided [RCV002575791] Chr11:74103348 [GRCh38]
Chr11:73814393 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.4151A>G (p.His1384Arg) single nucleotide variant not provided [RCV002642656] Chr11:74078567 [GRCh38]
Chr11:73789612 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.1862G>A (p.Arg621Gln) single nucleotide variant Inborn genetic diseases [RCV002595883]|not provided [RCV002606369] Chr11:74109134 [GRCh38]
Chr11:73820179 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.3911C>T (p.Ala1304Val) single nucleotide variant not provided [RCV003084402] Chr11:74084970 [GRCh38]
Chr11:73796015 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.4278dup (p.Asn1427fs) duplication not provided [RCV002876162] Chr11:74078439..74078440 [GRCh38]
Chr11:73789484..73789485 [GRCh37]
Chr11:11q13.4		 pathogenic
NM_001286577.2(C2CD3):c.3690G>A (p.Gly1230=) single nucleotide variant not provided [RCV002871931] Chr11:74085838 [GRCh38]
Chr11:73796883 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.6572G>A (p.Gly2191Glu) single nucleotide variant not provided [RCV002642676] Chr11:74033588 [GRCh38]
Chr11:73744633 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.3538A>C (p.Arg1180=) single nucleotide variant not provided [RCV003042174] Chr11:74090916 [GRCh38]
Chr11:73801961 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.5460C>G (p.Ala1820=) single nucleotide variant not provided [RCV003024743] Chr11:74048240 [GRCh38]
Chr11:73759285 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.6991C>T (p.Leu2331Phe) single nucleotide variant not provided [RCV002701022] Chr11:74013456 [GRCh38]
Chr11:73724501 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.709G>A (p.Gly237Arg) single nucleotide variant not provided [RCV003039813] Chr11:74138966 [GRCh38]
Chr11:73850011 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.4009G>A (p.Gly1337Arg) single nucleotide variant not provided [RCV002985554] Chr11:74078709 [GRCh38]
Chr11:73789754 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.5904T>G (p.Asp1968Glu) single nucleotide variant not provided [RCV002626869] Chr11:74034256 [GRCh38]
Chr11:73745301 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.4263GCT[3] (p.Leu1423_Ala1424insLeu) microsatellite not provided [RCV002851329] Chr11:74078449..74078450 [GRCh38]
Chr11:73789494..73789495 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.3911-13C>T single nucleotide variant not provided [RCV003007645] Chr11:74084983 [GRCh38]
Chr11:73796028 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.5309A>C (p.His1770Pro) single nucleotide variant Inborn genetic diseases [RCV002697897] Chr11:74049389 [GRCh38]
Chr11:73760434 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.4698G>A (p.Glu1566=) single nucleotide variant not provided [RCV002932189] Chr11:74074506 [GRCh38]
Chr11:73785551 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.3970C>G (p.Pro1324Ala) single nucleotide variant not provided [RCV002593845] Chr11:74084911 [GRCh38]
Chr11:73795956 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.6454G>A (p.Val2152Ile) single nucleotide variant not provided [RCV002700261] Chr11:74033706 [GRCh38]
Chr11:73744751 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.1898_1899dup (p.Glu634Ter) duplication not provided [RCV002876205] Chr11:74109096..74109097 [GRCh38]
Chr11:73820141..73820142 [GRCh37]
Chr11:11q13.4		 pathogenic
NM_001286577.2(C2CD3):c.4313G>A (p.Arg1438His) single nucleotide variant not provided [RCV003056799] Chr11:74078405 [GRCh38]
Chr11:73789450 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.5155+16A>G single nucleotide variant not provided [RCV002573882] Chr11:74054591 [GRCh38]
Chr11:73765636 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.484-18A>G single nucleotide variant not provided [RCV002876233] Chr11:74139846 [GRCh38]
Chr11:73850891 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.1234G>A (p.Gly412Ser) single nucleotide variant Inborn genetic diseases [RCV003064305]|not provided [RCV003041248] Chr11:74123119 [GRCh38]
Chr11:73834164 [GRCh37]
Chr11:11q13.4		 likely benign|uncertain significance
NM_001286577.2(C2CD3):c.4016A>G (p.Tyr1339Cys) single nucleotide variant Inborn genetic diseases [RCV002851687]|not provided [RCV002851686] Chr11:74078702 [GRCh38]
Chr11:73789747 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.3245T>C (p.Leu1082Pro) single nucleotide variant Inborn genetic diseases [RCV002675214] Chr11:74093915 [GRCh38]
Chr11:73804960 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.6573A>T (p.Gly2191=) single nucleotide variant not provided [RCV002580912] Chr11:74033587 [GRCh38]
Chr11:73744632 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.3963A>G (p.Val1321=) single nucleotide variant not provided [RCV002899109] Chr11:74084918 [GRCh38]
Chr11:73795963 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.6509C>T (p.Ala2170Val) single nucleotide variant not provided [RCV002720606] Chr11:74033651 [GRCh38]
Chr11:73744696 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.195G>T (p.Trp65Cys) single nucleotide variant not provided [RCV002899187] Chr11:74168474 [GRCh38]
Chr11:73879519 [GRCh37]
Chr11:11q13.4		 pathogenic
NM_001286577.2(C2CD3):c.6455T>C (p.Val2152Ala) single nucleotide variant not provided [RCV002811058] Chr11:74033705 [GRCh38]
Chr11:73744750 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.1655_1656inv (p.Pro552Leu) inversion not provided [RCV002675858] Chr11:74114458..74114459 [GRCh38]
Chr11:73825503..73825504 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.2724G>A (p.Met908Ile) single nucleotide variant Inborn genetic diseases [RCV004066690]|not provided [RCV002646234] Chr11:74100533 [GRCh38]
Chr11:73811578 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.3344+5A>G single nucleotide variant not provided [RCV002632003] Chr11:74093811 [GRCh38]
Chr11:73804856 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.2028C>T (p.Phe676=) single nucleotide variant not provided [RCV002938951] Chr11:74106428 [GRCh38]
Chr11:73817473 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.6922-20G>C single nucleotide variant not provided [RCV002676493] Chr11:74013545 [GRCh38]
Chr11:73724590 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.5013C>T (p.Ala1671=) single nucleotide variant not provided [RCV002671546] Chr11:74057483 [GRCh38]
Chr11:73768528 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.1113G>C (p.Arg371=) single nucleotide variant not provided [RCV002630556] Chr11:74132948 [GRCh38]
Chr11:73843993 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.6687G>A (p.Pro2229=) single nucleotide variant not provided [RCV002578696] Chr11:74033473 [GRCh38]
Chr11:73744518 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.1594C>G (p.Leu532Val) single nucleotide variant C2CD3-related disorder [RCV003418738]|not provided [RCV003063654] Chr11:74114520 [GRCh38]
Chr11:73825565 [GRCh37]
Chr11:11q13.4		 likely benign|uncertain significance
NM_001286577.2(C2CD3):c.3226G>C (p.Glu1076Gln) single nucleotide variant not provided [RCV003029734] Chr11:74093934 [GRCh38]
Chr11:73804979 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.634C>T (p.Pro212Ser) single nucleotide variant Inborn genetic diseases [RCV002600814]|not provided [RCV002600813] Chr11:74139678 [GRCh38]
Chr11:73850723 [GRCh37]
Chr11:11q13.4		 likely benign|uncertain significance
NM_001286577.2(C2CD3):c.330G>C (p.Met110Ile) single nucleotide variant not provided [RCV003028431] Chr11:74161552 [GRCh38]
Chr11:73872597 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.1825A>G (p.Ser609Gly) single nucleotide variant not provided [RCV002646966] Chr11:74113798 [GRCh38]
Chr11:73824843 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.2110A>G (p.Asn704Asp) single nucleotide variant not provided [RCV003008451] Chr11:74103601 [GRCh38]
Chr11:73814646 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.4637A>G (p.Asn1546Ser) single nucleotide variant not provided [RCV002770665] Chr11:74074567 [GRCh38]
Chr11:73785612 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.1814G>A (p.Arg605Gln) single nucleotide variant Inborn genetic diseases [RCV003086136]|not provided [RCV003087568] Chr11:74113809 [GRCh38]
Chr11:73824854 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.2439T>C (p.Asp813=) single nucleotide variant not provided [RCV002628002] Chr11:74103272 [GRCh38]
Chr11:73814317 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.4077C>G (p.Ile1359Met) single nucleotide variant not provided [RCV002577560] Chr11:74078641 [GRCh38]
Chr11:73789686 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.3222T>C (p.Asn1074=) single nucleotide variant not provided [RCV002715616] Chr11:74093938 [GRCh38]
Chr11:73804983 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.2302C>G (p.Arg768Gly) single nucleotide variant not provided [RCV003046532] Chr11:74103409 [GRCh38]
Chr11:73814454 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.6572G>C (p.Gly2191Ala) single nucleotide variant not provided [RCV002628528] Chr11:74033588 [GRCh38]
Chr11:73744633 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.2445A>G (p.Lys815=) single nucleotide variant not provided [RCV002598943] Chr11:74103266 [GRCh38]
Chr11:73814311 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.6340T>C (p.Ser2114Pro) single nucleotide variant not provided [RCV002810461] Chr11:74033820 [GRCh38]
Chr11:73744865 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.4057C>T (p.Leu1353=) single nucleotide variant not provided [RCV002937919] Chr11:74078661 [GRCh38]
Chr11:73789706 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.2214A>C (p.Gln738His) single nucleotide variant not provided [RCV002988851] Chr11:74103497 [GRCh38]
Chr11:73814542 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.6965G>C (p.Cys2322Ser) single nucleotide variant not provided [RCV002922396] Chr11:74013482 [GRCh38]
Chr11:73724527 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.1279C>T (p.Pro427Ser) single nucleotide variant Inborn genetic diseases [RCV002809707] Chr11:74123074 [GRCh38]
Chr11:73834119 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.1092C>G (p.Ile364Met) single nucleotide variant not provided [RCV002770254] Chr11:74132969 [GRCh38]
Chr11:73844014 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.2900A>G (p.Asn967Ser) single nucleotide variant Inborn genetic diseases [RCV002898264]|not provided [RCV003111716] Chr11:74098088 [GRCh38]
Chr11:73809133 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.2705C>A (p.Pro902His) single nucleotide variant not provided [RCV002581261] Chr11:74100552 [GRCh38]
Chr11:73811597 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.3237C>T (p.His1079=) single nucleotide variant not provided [RCV002601383] Chr11:74093923 [GRCh38]
Chr11:73804968 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.2010A>G (p.Gln670=) single nucleotide variant not provided [RCV002649683] Chr11:74106446 [GRCh38]
Chr11:73817491 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.6535A>G (p.Thr2179Ala) single nucleotide variant not provided [RCV002650711] Chr11:74033625 [GRCh38]
Chr11:73744670 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.3977A>C (p.Lys1326Thr) single nucleotide variant Inborn genetic diseases [RCV002675399] Chr11:74084904 [GRCh38]
Chr11:73795949 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.4000+14A>G single nucleotide variant not provided [RCV002600692] Chr11:74084867 [GRCh38]
Chr11:73795912 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.3685del (p.Val1229fs) deletion not provided [RCV003011389] Chr11:74085843 [GRCh38]
Chr11:73796888 [GRCh37]
Chr11:11q13.4		 pathogenic
NM_001286577.2(C2CD3):c.2581-18G>A single nucleotide variant not provided [RCV002577454] Chr11:74100694 [GRCh38]
Chr11:73811739 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.5036_5039del (p.Thr1679fs) deletion not provided [RCV002962599] Chr11:74057457..74057460 [GRCh38]
Chr11:73768502..73768505 [GRCh37]
Chr11:11q13.4		 pathogenic
NM_001286577.2(C2CD3):c.3664G>A (p.Ala1222Thr) single nucleotide variant Inborn genetic diseases [RCV002628044]|not provided [RCV002628045] Chr11:74085864 [GRCh38]
Chr11:73796909 [GRCh37]
Chr11:11q13.4		 likely benign|uncertain significance
NM_001286577.2(C2CD3):c.1732A>T (p.Thr578Ser) single nucleotide variant Inborn genetic diseases [RCV004064976]|not provided [RCV002857267] Chr11:74113891 [GRCh38]
Chr11:73824936 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.1885G>T (p.Gly629Cys) single nucleotide variant Inborn genetic diseases [RCV002702666] Chr11:74109111 [GRCh38]
Chr11:73820156 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.5566T>C (p.Ser1856Pro) single nucleotide variant not provided [RCV002721008] Chr11:74042148 [GRCh38]
Chr11:73753193 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.1349T>C (p.Leu450Ser) single nucleotide variant not provided [RCV002598139] Chr11:74123004 [GRCh38]
Chr11:73834049 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.6267T>A (p.Ser2089Arg) single nucleotide variant not provided [RCV002856195] Chr11:74033893 [GRCh38]
Chr11:73744938 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.205A>G (p.Thr69Ala) single nucleotide variant not provided [RCV002807339] Chr11:74168464 [GRCh38]
Chr11:73879509 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.3062C>T (p.Ala1021Val) single nucleotide variant not provided [RCV002720241] Chr11:74095326 [GRCh38]
Chr11:73806371 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.5462C>T (p.Ser1821Phe) single nucleotide variant not provided [RCV002811865] Chr11:74048238 [GRCh38]
Chr11:73759283 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.3161-16C>T single nucleotide variant not provided [RCV002716316] Chr11:74094015 [GRCh38]
Chr11:73805060 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.3710C>T (p.Thr1237Ile) single nucleotide variant Inborn genetic diseases [RCV002793298] Chr11:74085818 [GRCh38]
Chr11:73796863 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.2428A>G (p.Met810Val) single nucleotide variant not provided [RCV002630902] Chr11:74103283 [GRCh38]
Chr11:73814328 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.6515C>T (p.Pro2172Leu) single nucleotide variant not provided [RCV003011374] Chr11:74033645 [GRCh38]
Chr11:73744690 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.707G>A (p.Arg236Lys) single nucleotide variant not provided [RCV002807147] Chr11:74139605 [GRCh38]
Chr11:73850650 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.5661-14C>T single nucleotide variant not provided [RCV002922264] Chr11:74037712 [GRCh38]
Chr11:73748757 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.2926A>G (p.Ser976Gly) single nucleotide variant not provided [RCV002676167] Chr11:74098062 [GRCh38]
Chr11:73809107 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.5205C>T (p.Leu1735=) single nucleotide variant not provided [RCV002582657] Chr11:74049493 [GRCh38]
Chr11:73760538 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.1394T>G (p.Leu465Arg) single nucleotide variant Inborn genetic diseases [RCV003170716]|not provided [RCV002943786] Chr11:74118354 [GRCh38]
Chr11:73829399 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.2514C>A (p.Ser838Arg) single nucleotide variant Inborn genetic diseases [RCV003269397]|not provided [RCV003052076] Chr11:74103197 [GRCh38]
Chr11:73814242 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.441dup (p.Thr148fs) duplication not provided [RCV002583600] Chr11:74161440..74161441 [GRCh38]
Chr11:73872485..73872486 [GRCh37]
Chr11:11q13.4		 pathogenic
NM_001286577.2(C2CD3):c.5661-10T>C single nucleotide variant not provided [RCV002654120] Chr11:74037708 [GRCh38]
Chr11:73748753 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.2351C>T (p.Thr784Met) single nucleotide variant not provided [RCV002658069] Chr11:74103360 [GRCh38]
Chr11:73814405 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.5090+20C>T single nucleotide variant not provided [RCV002654171] Chr11:74057386 [GRCh38]
Chr11:73768431 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.2750G>A (p.Arg917His) single nucleotide variant EBV-positive nodal T- and NK-cell lymphoma [RCV004559952]|not provided [RCV002605668] Chr11:74098238 [GRCh38]
Chr11:73809283 [GRCh37]
Chr11:11q13.4		 likely benign|uncertain significance
NM_001286577.2(C2CD3):c.5781G>T (p.Arg1927Ser) single nucleotide variant not provided [RCV002584320] Chr11:74037578 [GRCh38]
Chr11:73748623 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.1127T>C (p.Ile376Thr) single nucleotide variant not provided [RCV002635494] Chr11:74132934 [GRCh38]
Chr11:73843979 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.129T>C (p.Leu43=) single nucleotide variant not provided [RCV002657917] Chr11:74168540 [GRCh38]
Chr11:73879585 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.2581-7C>T single nucleotide variant not provided [RCV002603478] Chr11:74100683 [GRCh38]
Chr11:73811728 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.3344+13G>A single nucleotide variant not provided [RCV002604062] Chr11:74093803 [GRCh38]
Chr11:73804848 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.3258G>C (p.Glu1086Asp) single nucleotide variant not provided [RCV002654380] Chr11:74093902 [GRCh38]
Chr11:73804947 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.3506A>G (p.Asn1169Ser) single nucleotide variant not provided [RCV002944273] Chr11:74092427 [GRCh38]
Chr11:73803472 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.2662C>T (p.Arg888Trp) single nucleotide variant not provided [RCV003050798] Chr11:74100595 [GRCh38]
Chr11:73811640 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.1272C>T (p.Ser424=) single nucleotide variant not provided [RCV002585115] Chr11:74123081 [GRCh38]
Chr11:73834126 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.3259G>T (p.Val1087Phe) single nucleotide variant not provided [RCV002657845] Chr11:74093901 [GRCh38]
Chr11:73804946 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.2086-9G>A single nucleotide variant not provided [RCV002606405] Chr11:74103634 [GRCh38]
Chr11:73814679 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.3916G>A (p.Asp1306Asn) single nucleotide variant not provided [RCV002609297] Chr11:74084965 [GRCh38]
Chr11:73796010 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.4123A>G (p.Arg1375Gly) single nucleotide variant not provided [RCV002654043] Chr11:74078595 [GRCh38]
Chr11:73789640 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.5362-15T>G single nucleotide variant not provided [RCV002636023] Chr11:74048353 [GRCh38]
Chr11:73759398 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.2707C>T (p.Leu903Phe) single nucleotide variant not provided [RCV002609726] Chr11:74100550 [GRCh38]
Chr11:73811595 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.2836A>G (p.Ser946Gly) single nucleotide variant Inborn genetic diseases [RCV004603205]|not provided [RCV002586956] Chr11:74098152 [GRCh38]
Chr11:73809197 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.6563C>T (p.Thr2188Met) single nucleotide variant not provided [RCV002606800] Chr11:74033597 [GRCh38]
Chr11:73744642 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.4832A>G (p.Gln1611Arg) single nucleotide variant not provided [RCV002634881] Chr11:74074372 [GRCh38]
Chr11:73785417 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.6526C>G (p.Pro2176Ala) single nucleotide variant not provided [RCV002587054] Chr11:74033634 [GRCh38]
Chr11:73744679 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.3517+8A>C single nucleotide variant not provided [RCV003067965] Chr11:74092408 [GRCh38]
Chr11:73803453 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.3345A>G (p.Arg1115=) single nucleotide variant Inborn genetic diseases [RCV003269501]|not provided [RCV002633222] Chr11:74092588 [GRCh38]
Chr11:73803633 [GRCh37]
Chr11:11q13.4		 likely benign|uncertain significance
NM_001286577.2(C2CD3):c.847C>T (p.Leu283Phe) single nucleotide variant not provided [RCV002604353] Chr11:74138828 [GRCh38]
Chr11:73849873 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.2787C>T (p.Val929=) single nucleotide variant not provided [RCV002590276] Chr11:74098201 [GRCh38]
Chr11:73809246 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.5751G>A (p.Thr1917=) single nucleotide variant not provided [RCV002607294] Chr11:74037608 [GRCh38]
Chr11:73748653 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.2482T>A (p.Cys828Ser) single nucleotide variant C2CD3-related disorder [RCV003926714]|not provided [RCV002585137] Chr11:74103229 [GRCh38]
Chr11:73814274 [GRCh37]
Chr11:11q13.4		 benign|likely benign
NM_001286577.2(C2CD3):c.5923T>A (p.Ser1975Thr) single nucleotide variant not provided [RCV002613307] Chr11:74034237 [GRCh38]
Chr11:73745282 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.3511T>A (p.Ser1171Thr) single nucleotide variant Inborn genetic diseases [RCV002607616]|not provided [RCV002607615] Chr11:74092422 [GRCh38]
Chr11:73803467 [GRCh37]
Chr11:11q13.4		 likely benign|uncertain significance
NM_001286577.2(C2CD3):c.2074G>T (p.Gly692Cys) single nucleotide variant not provided [RCV002609470] Chr11:74106382 [GRCh38]
Chr11:73817427 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.4721T>C (p.Met1574Thr) single nucleotide variant not provided [RCV002611444] Chr11:74074483 [GRCh38]
Chr11:73785528 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.2914C>G (p.Leu972Val) single nucleotide variant not provided [RCV002814932] Chr11:74098074 [GRCh38]
Chr11:73809119 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.5090+14G>A single nucleotide variant not provided [RCV002680967] Chr11:74057392 [GRCh38]
Chr11:73768437 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.686G>T (p.Ser229Ile) single nucleotide variant not provided [RCV002584210] Chr11:74139626 [GRCh38]
Chr11:73850671 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.1528G>A (p.Val510Ile) single nucleotide variant not provided [RCV002635348] Chr11:74114586 [GRCh38]
Chr11:73825631 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.4210C>A (p.Pro1404Thr) single nucleotide variant Inborn genetic diseases [RCV002944429] Chr11:74078508 [GRCh38]
Chr11:73789553 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.5014G>A (p.Asp1672Asn) single nucleotide variant not provided [RCV002587459] Chr11:74057482 [GRCh38]
Chr11:73768527 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.5090+15T>C single nucleotide variant not provided [RCV002583317] Chr11:74057391 [GRCh38]
Chr11:73768436 [GRCh37]
Chr11:11q13.4		 benign
NM_001286577.2(C2CD3):c.1808T>C (p.Val603Ala) single nucleotide variant Inborn genetic diseases [RCV003382900]|not provided [RCV002589881] Chr11:74113815 [GRCh38]
Chr11:73824860 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.1730+5G>A single nucleotide variant not provided [RCV002582363] Chr11:74114379 [GRCh38]
Chr11:73825424 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.6094A>C (p.Arg2032=) single nucleotide variant not provided [RCV003073259] Chr11:74034066 [GRCh38]
Chr11:73745111 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.5672G>A (p.Ser1891Asn) single nucleotide variant Inborn genetic diseases [RCV003220327] Chr11:74037687 [GRCh38]
Chr11:73748732 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.2237C>T (p.Pro746Leu) single nucleotide variant Inborn genetic diseases [RCV003209243] Chr11:74103474 [GRCh38]
Chr11:73814519 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.1655C>A (p.Pro552Gln) single nucleotide variant Inborn genetic diseases [RCV003199419] Chr11:74114459 [GRCh38]
Chr11:73825504 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.4198G>A (p.Asp1400Asn) single nucleotide variant Inborn genetic diseases [RCV003286685] Chr11:74078520 [GRCh38]
Chr11:73789565 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.1759G>C (p.Val587Leu) single nucleotide variant not provided [RCV003325673] Chr11:74113864 [GRCh38]
Chr11:73824909 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.1730G>A (p.Arg577His) single nucleotide variant Orofaciodigital syndrome type 14 [RCV003338923] Chr11:74114384 [GRCh38]
Chr11:73825429 [GRCh37]
Chr11:11q13.4		 likely pathogenic
NM_001286577.2(C2CD3):c.1048C>G (p.His350Asp) single nucleotide variant Orofaciodigital syndrome type 14 [RCV003340853] Chr11:74133465 [GRCh38]
Chr11:73844510 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.2720A>G (p.Tyr907Cys) single nucleotide variant Orofaciodigital syndrome type 14 [RCV003338924] Chr11:74100537 [GRCh38]
Chr11:73811582 [GRCh37]
Chr11:11q13.4		 likely pathogenic
NM_001286577.2(C2CD3):c.1246G>A (p.Asp416Asn) single nucleotide variant Inborn genetic diseases [RCV003345487] Chr11:74123107 [GRCh38]
Chr11:73834152 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.955+1G>A single nucleotide variant not provided [RCV003332486] Chr11:74138719 [GRCh38]
Chr11:73849764 [GRCh37]
Chr11:11q13.4		 likely pathogenic
NM_001286577.2(C2CD3):c.1160C>G (p.Thr387Arg) single nucleotide variant Inborn genetic diseases [RCV003345237]|Orofaciodigital syndrome type 14 [RCV004723281] Chr11:74132901 [GRCh38]
Chr11:73843946 [GRCh37]
Chr11:11q13.4		 likely benign|uncertain significance
NM_001286577.2(C2CD3):c.5710C>G (p.Leu1904Val) single nucleotide variant Inborn genetic diseases [RCV003371067] Chr11:74037649 [GRCh38]
Chr11:73748694 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.1103C>T (p.Ser368Phe) single nucleotide variant Inborn genetic diseases [RCV003365173] Chr11:74132958 [GRCh38]
Chr11:73844003 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.378T>G (p.Ile126Met) single nucleotide variant Inborn genetic diseases [RCV003350488]|not provided [RCV003777546] Chr11:74161504 [GRCh38]
Chr11:73872549 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.4396A>G (p.Thr1466Ala) single nucleotide variant Inborn genetic diseases [RCV003374362] Chr11:74078322 [GRCh38]
Chr11:73789367 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.280T>C (p.Tyr94His) single nucleotide variant Inborn genetic diseases [RCV003386265] Chr11:74168389 [GRCh38]
Chr11:73879434 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.1777G>A (p.Gly593Arg) single nucleotide variant Inborn genetic diseases [RCV003371176]|not provided [RCV003730557] Chr11:74113846 [GRCh38]
Chr11:73824891 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.3433C>T (p.Arg1145Cys) single nucleotide variant Inborn genetic diseases [RCV003378292] Chr11:74092500 [GRCh38]
Chr11:73803545 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.3049dup (p.Ala1017fs) duplication not provided [RCV003543414] Chr11:74095338..74095339 [GRCh38]
Chr11:73806383..73806384 [GRCh37]
Chr11:11q13.4		 pathogenic
NM_001286577.2(C2CD3):c.2343C>T (p.Phe781=) single nucleotide variant not provided [RCV003825798] Chr11:74103368 [GRCh38]
Chr11:73814413 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.3340del (p.Cys1114fs) deletion not provided [RCV003570293] Chr11:74093820 [GRCh38]
Chr11:73804865 [GRCh37]
Chr11:11q13.4		 pathogenic
NM_001286577.2(C2CD3):c.3689G>A (p.Gly1230Glu) single nucleotide variant not provided [RCV003571046] Chr11:74085839 [GRCh38]
Chr11:73796884 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.5497del (p.Ser1833fs) deletion not provided [RCV003543032] Chr11:74042217 [GRCh38]
Chr11:73753262 [GRCh37]
Chr11:11q13.4		 pathogenic
GRCh37/hg19 11q12.2-13.5(chr11:59923608-76272324)x3 copy number gain not provided [RCV003484842] Chr11:59923608..76272324 [GRCh37]
Chr11:11q12.2-13.5		 pathogenic
GRCh37/hg19 11q13.4(chr11:72308632-74236530)x1 copy number loss not provided [RCV003483128] Chr11:72308632..74236530 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.5128C>T (p.Leu1710=) single nucleotide variant not provided [RCV003398132] Chr11:74054634 [GRCh38]
Chr11:73765679 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.3160+2T>C single nucleotide variant C2CD3-related disorder [RCV003400343] Chr11:74095226 [GRCh38]
Chr11:73806271 [GRCh37]
Chr11:11q13.4		 likely pathogenic
NM_001286577.2(C2CD3):c.291T>A (p.Arg97=) single nucleotide variant not provided [RCV003395906] Chr11:74168378 [GRCh38]
Chr11:73879423 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.5371T>C (p.Tyr1791His) single nucleotide variant not provided [RCV003443800] Chr11:74048329 [GRCh38]
Chr11:73759374 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.3051_3052insA (p.Pro1018fs) insertion C2CD3-related disorder [RCV003416816] Chr11:74095336..74095337 [GRCh38]
Chr11:73806381..73806382 [GRCh37]
Chr11:11q13.4		 likely pathogenic
NM_001286577.2(C2CD3):c.5253T>G (p.Ser1751Arg) single nucleotide variant not provided [RCV003442281] Chr11:74049445 [GRCh38]
Chr11:73760490 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.2733-6C>A single nucleotide variant not provided [RCV003828098] Chr11:74098261 [GRCh38]
Chr11:73809306 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.850C>T (p.Leu284=) single nucleotide variant not provided [RCV003739845] Chr11:74138825 [GRCh38]
Chr11:73849870 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.4952-18C>T single nucleotide variant not provided [RCV003715915] Chr11:74057562 [GRCh38]
Chr11:73768607 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.1996C>T (p.Arg666Ter) single nucleotide variant Orofaciodigital syndrome type 14 [RCV004587577]|not provided [RCV003878257] Chr11:74106460 [GRCh38]
Chr11:73817505 [GRCh37]
Chr11:11q13.4		 pathogenic
NM_001286577.2(C2CD3):c.4797C>T (p.Val1599=) single nucleotide variant not provided [RCV003692604] Chr11:74074407 [GRCh38]
Chr11:73785452 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.3921A>G (p.Ile1307Met) single nucleotide variant not provided [RCV003882003] Chr11:74084960 [GRCh38]
Chr11:73796005 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.281dup (p.Tyr94Ter) duplication not provided [RCV003578844] Chr11:74168387..74168388 [GRCh38]
Chr11:73879432..73879433 [GRCh37]
Chr11:11q13.4		 pathogenic
NM_001286577.2(C2CD3):c.4665T>C (p.His1555=) single nucleotide variant not provided [RCV003827851] Chr11:74074539 [GRCh38]
Chr11:73785584 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.240A>G (p.Ala80=) single nucleotide variant not provided [RCV003712989] Chr11:74168429 [GRCh38]
Chr11:73879474 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.4782C>T (p.Leu1594=) single nucleotide variant not provided [RCV003663171] Chr11:74074422 [GRCh38]
Chr11:73785467 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.4089G>A (p.Leu1363=) single nucleotide variant not provided [RCV003881255] Chr11:74078629 [GRCh38]
Chr11:73789674 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.4980G>A (p.Ser1660=) single nucleotide variant not provided [RCV003829567] Chr11:74057516 [GRCh38]
Chr11:73768561 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.3459del (p.Phe1153fs) deletion not provided [RCV003544466] Chr11:74092474 [GRCh38]
Chr11:73803519 [GRCh37]
Chr11:11q13.4		 pathogenic
NM_001286577.2(C2CD3):c.4738A>G (p.Ser1580Gly) single nucleotide variant not provided [RCV003575983] Chr11:74074466 [GRCh38]
Chr11:73785511 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.5814C>T (p.Asp1938=) single nucleotide variant not provided [RCV003660666] Chr11:74037545 [GRCh38]
Chr11:73748590 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.6632A>G (p.Asn2211Ser) single nucleotide variant not provided [RCV003695857] Chr11:74033528 [GRCh38]
Chr11:73744573 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.2202A>G (p.Pro734=) single nucleotide variant not provided [RCV003661683] Chr11:74103509 [GRCh38]
Chr11:73814554 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.2581-9C>G single nucleotide variant not provided [RCV003829859] Chr11:74100685 [GRCh38]
Chr11:73811730 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.4314C>T (p.Arg1438=) single nucleotide variant not provided [RCV003572902] Chr11:74078404 [GRCh38]
Chr11:73789449 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.2086-4A>C single nucleotide variant not provided [RCV003882376] Chr11:74103629 [GRCh38]
Chr11:73814674 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.3987G>C (p.Leu1329=) single nucleotide variant not provided [RCV003689729] Chr11:74084894 [GRCh38]
Chr11:73795939 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.3945G>A (p.Glu1315=) single nucleotide variant not provided [RCV003738885] Chr11:74084936 [GRCh38]
Chr11:73795981 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.3370C>T (p.Gln1124Ter) single nucleotide variant not provided [RCV003713449] Chr11:74092563 [GRCh38]
Chr11:73803608 [GRCh37]
Chr11:11q13.4		 pathogenic
NM_001286577.2(C2CD3):c.5881+8T>C single nucleotide variant not provided [RCV003686943] Chr11:74037470 [GRCh38]
Chr11:73748515 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.1671dup (p.Thr558fs) duplication not provided [RCV003689255] Chr11:74114442..74114443 [GRCh38]
Chr11:73825487..73825488 [GRCh37]
Chr11:11q13.4		 pathogenic
NM_001286577.2(C2CD3):c.1677T>C (p.Pro559=) single nucleotide variant not provided [RCV003826244] Chr11:74114437 [GRCh38]
Chr11:73825482 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.5784C>A (p.Asp1928Glu) single nucleotide variant Orofaciodigital syndrome type 14 [RCV003492940] Chr11:74037575 [GRCh38]
Chr11:73748620 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.4851C>T (p.Thr1617=) single nucleotide variant not provided [RCV003715547] Chr11:74074353 [GRCh38]
Chr11:73785398 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.2649T>C (p.Thr883=) single nucleotide variant not provided [RCV003714879] Chr11:74100608 [GRCh38]
Chr11:73811653 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.3627G>A (p.Leu1209=) single nucleotide variant not provided [RCV003715860] Chr11:74090827 [GRCh38]
Chr11:73801872 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.4914C>T (p.Ser1638=) single nucleotide variant not provided [RCV003664306] Chr11:74074290 [GRCh38]
Chr11:73785335 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.3192C>T (p.Thr1064=) single nucleotide variant not provided [RCV003579885] Chr11:74093968 [GRCh38]
Chr11:73805013 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.3279A>G (p.Leu1093=) single nucleotide variant not provided [RCV003666224] Chr11:74093881 [GRCh38]
Chr11:73804926 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.2025T>C (p.Ser675=) single nucleotide variant not provided [RCV003850967] Chr11:74106431 [GRCh38]
Chr11:73817476 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.4657C>T (p.Arg1553Ter) single nucleotide variant not provided [RCV003668021] Chr11:74074547 [GRCh38]
Chr11:73785592 [GRCh37]
Chr11:11q13.4		 pathogenic
NM_001286577.2(C2CD3):c.1359A>T (p.Thr453=) single nucleotide variant not provided [RCV003557591] Chr11:74122994 [GRCh38]
Chr11:73834039 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.5748A>G (p.Gln1916=) single nucleotide variant C2CD3-related disorder [RCV003909065]|not provided [RCV003669867] Chr11:74037611 [GRCh38]
Chr11:73748656 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.5454T>C (p.Ala1818=) single nucleotide variant not provided [RCV003666579] Chr11:74048246 [GRCh38]
Chr11:73759291 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.2341T>G (p.Phe781Val) single nucleotide variant not provided [RCV003724120] Chr11:74103370 [GRCh38]
Chr11:73814415 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.55+18A>G single nucleotide variant not provided [RCV003849600] Chr11:74170720 [GRCh38]
Chr11:73881765 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.3910+8C>G single nucleotide variant not provided [RCV003832171] Chr11:74085610 [GRCh38]
Chr11:73796655 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.4317C>T (p.Tyr1439=) single nucleotide variant not provided [RCV003854752] Chr11:74078401 [GRCh38]
Chr11:73789446 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.4001-5G>A single nucleotide variant not provided [RCV003726495] Chr11:74078722 [GRCh38]
Chr11:73789767 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.3562G>A (p.Ala1188Thr) single nucleotide variant not provided [RCV003666614] Chr11:74090892 [GRCh38]
Chr11:73801937 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.1218-12T>C single nucleotide variant not provided [RCV003814010] Chr11:74123147 [GRCh38]
Chr11:73834192 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.1315G>A (p.Asp439Asn) single nucleotide variant not provided [RCV003717445] Chr11:74123038 [GRCh38]
Chr11:73834083 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.3360T>C (p.Asn1120=) single nucleotide variant not provided [RCV003559658] Chr11:74092573 [GRCh38]
Chr11:73803618 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.764_765del (p.Phe255fs) deletion not provided [RCV003701506] Chr11:74138910..74138911 [GRCh38]
Chr11:73849955..73849956 [GRCh37]
Chr11:11q13.4		 pathogenic
NM_001286577.2(C2CD3):c.5994A>G (p.Gln1998=) single nucleotide variant not provided [RCV003550089] Chr11:74034166 [GRCh38]
Chr11:73745211 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.1844-18G>T single nucleotide variant not provided [RCV003667321] Chr11:74109170 [GRCh38]
Chr11:73820215 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.3535del (p.Gly1178_Leu1179insTer) deletion not provided [RCV003668967] Chr11:74090919 [GRCh38]
Chr11:73801964 [GRCh37]
Chr11:11q13.4		 pathogenic
NM_001286577.2(C2CD3):c.5156-9C>G single nucleotide variant not provided [RCV003668931] Chr11:74049551 [GRCh38]
Chr11:73760596 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.1423A>T (p.Lys475Ter) single nucleotide variant not provided [RCV003672853] Chr11:74118325 [GRCh38]
Chr11:73829370 [GRCh37]
Chr11:11q13.4		 pathogenic
NM_001286577.2(C2CD3):c.5031A>G (p.Val1677=) single nucleotide variant not provided [RCV003724355] Chr11:74057465 [GRCh38]
Chr11:73768510 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.5388C>T (p.Phe1796=) single nucleotide variant not provided [RCV003664083] Chr11:74048312 [GRCh38]
Chr11:73759357 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.519C>G (p.Tyr173Ter) single nucleotide variant not provided [RCV003672059] Chr11:74139793 [GRCh38]
Chr11:73850838 [GRCh37]
Chr11:11q13.4		 pathogenic
NM_001286577.2(C2CD3):c.4086T>A (p.Gly1362=) single nucleotide variant not provided [RCV003724764] Chr11:74078632 [GRCh38]
Chr11:73789677 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.3345-13T>C single nucleotide variant not provided [RCV003665187] Chr11:74092601 [GRCh38]
Chr11:73803646 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.4951+14A>G single nucleotide variant not provided [RCV003675281] Chr11:74074239 [GRCh38]
Chr11:73785284 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.3618C>G (p.Ala1206=) single nucleotide variant not provided [RCV003677982] Chr11:74090836 [GRCh38]
Chr11:73801881 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.3459_3460dup (p.Asn1154fs) duplication not provided [RCV003554212] Chr11:74092472..74092473 [GRCh38]
Chr11:73803517..73803518 [GRCh37]
Chr11:11q13.4		 pathogenic
NM_001286577.2(C2CD3):c.1731-14T>G single nucleotide variant not provided [RCV003820899] Chr11:74113906 [GRCh38]
Chr11:73824951 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.5110C>T (p.Leu1704=) single nucleotide variant not provided [RCV003844623] Chr11:74054652 [GRCh38]
Chr11:73765697 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.2250C>T (p.Asn750=) single nucleotide variant not provided [RCV003822615] Chr11:74103461 [GRCh38]
Chr11:73814506 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.4287del (p.His1430fs) deletion not provided [RCV003864280] Chr11:74078431 [GRCh38]
Chr11:73789476 [GRCh37]
Chr11:11q13.4		 pathogenic
NM_001286577.2(C2CD3):c.5796A>G (p.Pro1932=) single nucleotide variant not provided [RCV003733964] Chr11:74037563 [GRCh38]
Chr11:73748608 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.1887T>C (p.Gly629=) single nucleotide variant not provided [RCV003734931] Chr11:74109109 [GRCh38]
Chr11:73820154 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.639C>T (p.Arg213=) single nucleotide variant not provided [RCV003736269] Chr11:74139673 [GRCh38]
Chr11:73850718 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.4425C>T (p.Val1475=) single nucleotide variant not provided [RCV003728545] Chr11:74078293 [GRCh38]
Chr11:73789338 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.777C>T (p.His259=) single nucleotide variant not provided [RCV003681556] Chr11:74138898 [GRCh38]
Chr11:73849943 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.5823C>T (p.Ser1941=) single nucleotide variant not provided [RCV003682887] Chr11:74037536 [GRCh38]
Chr11:73748581 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.2086-1G>C single nucleotide variant not provided [RCV003707055] Chr11:74103626 [GRCh38]
Chr11:73814671 [GRCh37]
Chr11:11q13.4		 likely pathogenic
NM_001286577.2(C2CD3):c.5661-26TCT[2] microsatellite not provided [RCV003823565] Chr11:74037716..74037718 [GRCh38]
Chr11:73748761..73748763 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.5094A>G (p.Leu1698=) single nucleotide variant not provided [RCV003843264] Chr11:74054668 [GRCh38]
Chr11:73765713 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.2085+10T>A single nucleotide variant not provided [RCV003542216] Chr11:74106361 [GRCh38]
Chr11:73817406 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.1844-12T>C single nucleotide variant not provided [RCV003685279] Chr11:74109164 [GRCh38]
Chr11:73820209 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.6654C>T (p.Leu2218=) single nucleotide variant not provided [RCV003870680] Chr11:74033506 [GRCh38]
Chr11:73744551 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.3518-17G>T single nucleotide variant not provided [RCV003840673] Chr11:74090953 [GRCh38]
Chr11:73801998 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.5325G>A (p.Arg1775=) single nucleotide variant not provided [RCV003554136] Chr11:74049373 [GRCh38]
Chr11:73760418 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.1880A>G (p.Gln627Arg) single nucleotide variant not provided [RCV003557267] Chr11:74109116 [GRCh38]
Chr11:73820161 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.1274del (p.Pro425fs) deletion not provided [RCV003842227] Chr11:74123079 [GRCh38]
Chr11:73834124 [GRCh37]
Chr11:11q13.4		 pathogenic
NM_001286577.2(C2CD3):c.612C>T (p.Thr204=) single nucleotide variant not provided [RCV003867503] Chr11:74139700 [GRCh38]
Chr11:73850745 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.1616A>C (p.His539Pro) single nucleotide variant not provided [RCV003720177] Chr11:74114498 [GRCh38]
Chr11:73825543 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.77C>T (p.Ser26Phe) single nucleotide variant not provided [RCV003822048] Chr11:74168592 [GRCh38]
Chr11:73879637 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.5616C>T (p.Thr1872=) single nucleotide variant not provided [RCV003557465] Chr11:74042098 [GRCh38]
Chr11:73753143 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.101A>C (p.Glu34Ala) single nucleotide variant not provided [RCV003727199]|not specified [RCV004690474] Chr11:74168568 [GRCh38]
Chr11:73879613 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.7027C>T (p.Arg2343Trp) single nucleotide variant Orofaciodigital syndrome type 14 [RCV004577044]|not provided [RCV003731428] Chr11:74013420 [GRCh38]
Chr11:73724465 [GRCh37]
Chr11:11q13.4		 likely benign|uncertain significance
NM_001286577.2(C2CD3):c.5817T>A (p.Pro1939=) single nucleotide variant not provided [RCV003680798] Chr11:74037542 [GRCh38]
Chr11:73748587 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.663T>C (p.Asp221=) single nucleotide variant not provided [RCV003710165] Chr11:74139649 [GRCh38]
Chr11:73850694 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.1890C>T (p.Gly630=) single nucleotide variant not provided [RCV003731833] Chr11:74109106 [GRCh38]
Chr11:73820151 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.1141_1142insA (p.Leu381fs) insertion not provided [RCV003541835] Chr11:74132919..74132920 [GRCh38]
Chr11:73843964..73843965 [GRCh37]
Chr11:11q13.4		 pathogenic
NM_001286577.2(C2CD3):c.6719A>G (p.Asn2240Ser) single nucleotide variant not provided [RCV003869038] Chr11:74033441 [GRCh38]
Chr11:73744486 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.3873A>C (p.Glu1291Asp) single nucleotide variant not provided [RCV003708487] Chr11:74085655 [GRCh38]
Chr11:73796700 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.5696A>G (p.Tyr1899Cys) single nucleotide variant not provided [RCV003734632] Chr11:74037663 [GRCh38]
Chr11:73748708 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.3663C>G (p.Pro1221=) single nucleotide variant not provided [RCV003675631] Chr11:74085865 [GRCh38]
Chr11:73796910 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.2136T>C (p.Thr712=) single nucleotide variant not provided [RCV003729168] Chr11:74103575 [GRCh38]
Chr11:73814620 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.1209A>G (p.Leu403=) single nucleotide variant not provided [RCV003848702] Chr11:74132852 [GRCh38]
Chr11:73843897 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.6327C>A (p.Gly2109=) single nucleotide variant not provided [RCV003841677] Chr11:74033833 [GRCh38]
Chr11:73744878 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.339G>A (p.Leu113=) single nucleotide variant not provided [RCV003682738] Chr11:74161543 [GRCh38]
Chr11:73872588 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.707+11T>A single nucleotide variant not provided [RCV003853629] Chr11:74139594 [GRCh38]
Chr11:73850639 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.2361C>T (p.Ser787=) single nucleotide variant not provided [RCV003550415] Chr11:74103350 [GRCh38]
Chr11:73814395 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.4743G>A (p.Glu1581=) single nucleotide variant not provided [RCV003552221] Chr11:74074461 [GRCh38]
Chr11:73785506 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.5286dup (p.Ser1763fs) duplication not provided [RCV003824256] Chr11:74049411..74049412 [GRCh38]
Chr11:73760456..73760457 [GRCh37]
Chr11:11q13.4		 pathogenic
NM_001286577.2(C2CD3):c.591G>A (p.Glu197=) single nucleotide variant not provided [RCV003842421] Chr11:74139721 [GRCh38]
Chr11:73850766 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.2755C>G (p.Leu919Val) single nucleotide variant not provided [RCV003818819] Chr11:74098233 [GRCh38]
Chr11:73809278 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.2_9del (p.Met1fs) deletion Orofaciodigital syndrome type 14 [RCV003995165] Chr11:74170784..74170791 [GRCh38]
Chr11:73881829..73881836 [GRCh37]
Chr11:11q13.4		 likely pathogenic
NM_001286577.2(C2CD3):c.282C>T (p.Tyr94=) single nucleotide variant C2CD3-related disorder [RCV003914037] Chr11:74168387 [GRCh38]
Chr11:73879432 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.597T>C (p.Thr199=) single nucleotide variant C2CD3-related disorder [RCV003896345] Chr11:74139715 [GRCh38]
Chr11:73850760 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.3541T>C (p.Tyr1181His) single nucleotide variant not provided [RCV003886966] Chr11:74090913 [GRCh38]
Chr11:73801958 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.3285T>G (p.Ser1095Arg) single nucleotide variant not provided [RCV003887318] Chr11:74093875 [GRCh38]
Chr11:73804920 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.6885C>T (p.Leu2295=) single nucleotide variant C2CD3-related disorder [RCV003894651] Chr11:74028323 [GRCh38]
Chr11:73739368 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.4239G>A (p.Arg1413=) single nucleotide variant C2CD3-related disorder [RCV003982632] Chr11:74078479 [GRCh38]
Chr11:73789524 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.6462T>C (p.Cys2154=) single nucleotide variant C2CD3-related disorder [RCV003894188] Chr11:74033698 [GRCh38]
Chr11:73744743 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.1201del (p.Gln401fs) deletion not provided [RCV003885152] Chr11:74132860 [GRCh38]
Chr11:73843905 [GRCh37]
Chr11:11q13.4		 pathogenic
NM_001286577.2(C2CD3):c.2857A>G (p.Met953Val) single nucleotide variant Inborn genetic diseases [RCV004429662] Chr11:74098131 [GRCh38]
Chr11:73809176 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.110T>G (p.Leu37Arg) single nucleotide variant Inborn genetic diseases [RCV004429658] Chr11:74168559 [GRCh38]
Chr11:73879604 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.5525G>A (p.Arg1842His) single nucleotide variant Inborn genetic diseases [RCV004429676] Chr11:74042189 [GRCh38]
Chr11:73753234 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.4111C>T (p.His1371Tyr) single nucleotide variant Inborn genetic diseases [RCV004429668] Chr11:74078607 [GRCh38]
Chr11:73789652 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.889G>C (p.Ala297Pro) single nucleotide variant Inborn genetic diseases [RCV004429677] Chr11:74138786 [GRCh38]
Chr11:73849831 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.3241C>G (p.Leu1081Val) single nucleotide variant Inborn genetic diseases [RCV004429665] Chr11:74093919 [GRCh38]
Chr11:73804964 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.3584G>A (p.Arg1195Gln) single nucleotide variant Inborn genetic diseases [RCV004429667] Chr11:74090870 [GRCh38]
Chr11:73801915 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.5011G>A (p.Ala1671Thr) single nucleotide variant Inborn genetic diseases [RCV004429673] Chr11:74057485 [GRCh38]
Chr11:73768530 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.5539G>A (p.Val1847Met) single nucleotide variant EBV-positive nodal T- and NK-cell lymphoma [RCV004558088] Chr11:74042175 [GRCh38]
Chr11:73753220 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.1019C>T (p.Pro340Leu) single nucleotide variant Inborn genetic diseases [RCV004429657] Chr11:74133494 [GRCh38]
Chr11:73844539 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.2932A>G (p.Arg978Gly) single nucleotide variant Inborn genetic diseases [RCV004429664] Chr11:74098056 [GRCh38]
Chr11:73809101 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.4530C>G (p.Asp1510Glu) single nucleotide variant Inborn genetic diseases [RCV004429671] Chr11:74078188 [GRCh38]
Chr11:73789233 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.5600dup (p.Cys1867fs) duplication Orofaciodigital syndrome type 14 [RCV004547244] Chr11:74042113..74042114 [GRCh38]
Chr11:73753158..73753159 [GRCh37]
Chr11:11q13.4		 likely pathogenic
NM_001286577.2(C2CD3):c.4752G>C (p.Gln1584His) single nucleotide variant Inborn genetic diseases [RCV004429672] Chr11:74074452 [GRCh38]
Chr11:73785497 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.5251A>T (p.Ser1751Cys) single nucleotide variant Inborn genetic diseases [RCV004429674] Chr11:74049447 [GRCh38]
Chr11:73760492 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.2860G>C (p.Gly954Arg) single nucleotide variant Inborn genetic diseases [RCV004429663] Chr11:74098128 [GRCh38]
Chr11:73809173 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.4309C>G (p.Leu1437Val) single nucleotide variant Inborn genetic diseases [RCV004429670] Chr11:74078409 [GRCh38]
Chr11:73789454 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.4001-5G>T single nucleotide variant not specified [RCV004690978] Chr11:74078722 [GRCh38]
Chr11:73789767 [GRCh37]
Chr11:11q13.4		 uncertain significance
NC_000011.9:g.(?_73820059)_(73820217_?)del deletion not provided [RCV004580362] Chr11:73820059..73820217 [GRCh37]
Chr11:11q13.4		 pathogenic
NM_001286577.2(C2CD3):c.1434C>G (p.Ser478Arg) single nucleotide variant Inborn genetic diseases [RCV004607231] Chr11:74118314 [GRCh38]
Chr11:73829359 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.4051C>G (p.His1351Asp) single nucleotide variant Inborn genetic diseases [RCV004605941] Chr11:74078667 [GRCh38]
Chr11:73789712 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.167C>G (p.Pro56Arg) single nucleotide variant Inborn genetic diseases [RCV004605943] Chr11:74168502 [GRCh38]
Chr11:73879547 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.373C>G (p.Pro125Ala) single nucleotide variant Inborn genetic diseases [RCV004605944] Chr11:74161509 [GRCh38]
Chr11:73872554 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.1889G>T (p.Gly630Val) single nucleotide variant Inborn genetic diseases [RCV004605942] Chr11:74109107 [GRCh38]
Chr11:73820152 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.1533A>G (p.Glu511=) single nucleotide variant not provided [RCV004576033] Chr11:74114581 [GRCh38]
Chr11:73825626 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.2077C>T (p.Pro693Ser) single nucleotide variant Inborn genetic diseases [RCV004605945] Chr11:74106379 [GRCh38]
Chr11:73817424 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.4325A>G (p.Tyr1442Cys) single nucleotide variant not provided [RCV004759796]   uncertain significance
NM_001286577.2(C2CD3):c.719A>G (p.His240Arg) single nucleotide variant not provided [RCV004759797]   uncertain significance
NM_001286577.2(C2CD3):c.1844-12T>A single nucleotide variant not specified [RCV004800858] Chr11:74109164 [GRCh38]
Chr11:73820209 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.3871G>C (p.Glu1291Gln) single nucleotide variant not provided [RCV004775128] Chr11:74085657 [GRCh38]
Chr11:73796702 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_001286577.2(C2CD3):c.5156-8C>T single nucleotide variant C2CD3-related disorder [RCV004755348] Chr11:74049550 [GRCh38]
Chr11:73760595 [GRCh37]
Chr11:11q13.4		 likely benign
NM_001286577.2(C2CD3):c.5491G>A (p.Gly1831Arg) single nucleotide variant not provided [RCV004769900] Chr11:74048209 [GRCh38]
Chr11:73759254 [GRCh37]
Chr11:11q13.4		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:5087
Count of miRNA genes:1262
Interacting mature miRNAs:1656
Transcripts:ENST00000313663, ENST00000334126, ENST00000366334, ENST00000414160, ENST00000415191, ENST00000436679, ENST00000442398, ENST00000535645, ENST00000535954, ENST00000537285, ENST00000538361, ENST00000538625, ENST00000539061, ENST00000540057, ENST00000540452, ENST00000541922, ENST00000542452, ENST00000542484, ENST00000542930, ENST00000544293
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
1357380BW64_HBody weight QTL 64 (human)2.2Body weightpercent fat after exercise training116097893786978937Human
597319835GWAS1415909_Hdiastolic blood pressure, systolic blood pressure QTL GWAS1415909 (human)9e-09diastolic blood pressure, systolic blood pressuresystolic blood pressure (CMO:0000004)117408167874081679Human
597137957GWAS1234031_Hdiastolic blood pressure, systolic blood pressure QTL GWAS1234031 (human)2e-09diastolic blood pressure, systolic blood pressuresystolic blood pressure (CMO:0000004)117408167874081679Human
597535134GWAS1631208_Hbody height QTL GWAS1631208 (human)1e-16body height (VT:0001253)body height (CMO:0000106)117404187974041880Human
597267617GWAS1363691_Hschizophrenia QTL GWAS1363691 (human)0.000008schizophrenia117409691074096911Human
597129516GWAS1225590_Hpulse pressure measurement QTL GWAS1225590 (human)4e-09pulse pressure measurementpulse pressure (CMO:0000292)117407243374072434Human

Markers in Region
WI-18676  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371173,723,783 - 73,723,907UniSTSGRCh37
Build 361173,401,431 - 73,401,555RGDNCBI36
Celera1171,030,587 - 71,030,711RGD
Cytogenetic Map11q13.4UniSTS
HuRef1170,019,684 - 70,019,808UniSTS
GeneMap99-GB4 RH Map11271.36UniSTS
Whitehead-RH Map11370.7UniSTS
NCBI RH Map11626.7UniSTS
RH26881  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371173,723,876 - 73,723,992UniSTSGRCh37
Build 361173,401,524 - 73,401,640RGDNCBI36
Celera1171,030,680 - 71,030,796RGD
Cytogenetic Map11q13.4UniSTS
HuRef1170,019,777 - 70,019,893UniSTS
RH119059  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371173,844,791 - 73,845,116UniSTSGRCh37
Build 361173,522,439 - 73,522,764RGDNCBI36
Celera1171,151,592 - 71,151,917RGD
Cytogenetic Map11q13.4UniSTS
HuRef1170,140,054 - 70,140,379UniSTS
TNG Radiation Hybrid Map1133264.0UniSTS
D3S2776E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37315,296,369 - 15,296,467UniSTSGRCh37
GRCh371173,876,374 - 73,876,476UniSTSGRCh37
Build 36315,271,373 - 15,271,471RGDNCBI36
Celera1171,183,169 - 71,183,271UniSTS
Celera315,234,628 - 15,234,726RGD
Cytogenetic Map3p25.1UniSTS
Cytogenetic Map3p24.3UniSTS
Cytogenetic Map11q13.4UniSTS
HuRef315,231,827 - 15,231,925UniSTS
D11S3588  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371173,747,846 - 73,747,997UniSTSGRCh37
Build 361173,425,494 - 73,425,645RGDNCBI36
Celera1171,054,650 - 71,054,801RGD
Cytogenetic Map11q13.4UniSTS
HuRef1170,043,630 - 70,043,781UniSTS
RH36451  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371173,860,969 - 73,861,165UniSTSGRCh37
Build 361173,538,617 - 73,538,813RGDNCBI36
Celera1171,167,769 - 71,167,965RGD
Cytogenetic Map11q13.4UniSTS
HuRef1170,156,232 - 70,156,428UniSTS
GeneMap99-GB4 RH Map11268.65UniSTS
NCBI RH Map11619.3UniSTS
D11S944E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371173,723,787 - 73,723,971UniSTSGRCh37
Build 361173,401,435 - 73,401,619RGDNCBI36
Celera1171,030,591 - 71,030,775RGD
Cytogenetic Map11q13.4UniSTS
HuRef1170,019,688 - 70,019,872UniSTS
TNG Radiation Hybrid Map1133047.0UniSTS
Stanford-G3 RH Map113224.0UniSTS
NCBI RH Map11625.2UniSTS
GeneMap99-G3 RH Map113224.0UniSTS
RH66358  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371173,723,963 - 73,724,117UniSTSGRCh37
Build 361173,401,611 - 73,401,765RGDNCBI36
Celera1171,030,767 - 71,030,921RGD
Cytogenetic Map11q13.4UniSTS
HuRef1170,019,864 - 70,020,018UniSTS
GeneMap99-GB4 RH Map11271.36UniSTS
NCBI RH Map11626.7UniSTS
A008X42  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map11q13.4UniSTS
HuRef1170,156,192 - 70,156,298UniSTS
GeneMap99-GB4 RH Map11271.99UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2439 2788 2252 4973 1726 2351 5 623 1951 465 2269 7302 6469 53 3734 1 852 1744 1616 174 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_041791 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001286577 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_015531 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011544904 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011544905 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017017510 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017017511 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017017512 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017017513 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017017514 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017017515 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017017516 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001747826 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001747827 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001747828 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_949871 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB231762 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB231763 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB231764 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI873280 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK091397 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK092089 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK125894 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL080220 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL833903 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP002392 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP003717 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC035599 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC110508 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM460060 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CD369754 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068267 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB068715 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB078025 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF495682 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000313663   ⟹   ENSP00000323339
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1174,034,434 - 74,171,019 (-)Ensembl
Ensembl Acc Id: ENST00000334126   ⟹   ENSP00000334379
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1174,012,718 - 74,171,002 (-)Ensembl
Ensembl Acc Id: ENST00000366334
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1174,107,876 - 74,109,492 (-)Ensembl
Ensembl Acc Id: ENST00000414160   ⟹   ENSP00000388750
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1174,034,442 - 74,170,792 (-)Ensembl
Ensembl Acc Id: ENST00000415191
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1174,113,201 - 74,170,957 (-)Ensembl
Ensembl Acc Id: ENST00000436679
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1174,129,174 - 74,133,630 (-)Ensembl
Ensembl Acc Id: ENST00000442398   ⟹   ENSP00000404577
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1174,012,718 - 74,170,792 (-)Ensembl
Ensembl Acc Id: ENST00000535645
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1174,078,185 - 74,085,599 (-)Ensembl
Ensembl Acc Id: ENST00000535954   ⟹   ENSP00000439343
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1174,161,434 - 74,171,210 (-)Ensembl
Ensembl Acc Id: ENST00000537285
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1174,100,609 - 74,110,588 (-)Ensembl
Ensembl Acc Id: ENST00000538361   ⟹   ENSP00000441742
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1174,036,128 - 74,170,792 (-)Ensembl
Ensembl Acc Id: ENST00000538625
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1174,012,737 - 74,070,874 (-)Ensembl
Ensembl Acc Id: ENST00000539061   ⟹   ENSP00000445933
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1174,128,578 - 74,171,000 (-)Ensembl
Ensembl Acc Id: ENST00000540057
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1174,085,522 - 74,091,364 (-)Ensembl
Ensembl Acc Id: ENST00000540452
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1174,034,432 - 74,042,160 (-)Ensembl
Ensembl Acc Id: ENST00000541922
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1174,158,327 - 74,170,877 (-)Ensembl
Ensembl Acc Id: ENST00000542452
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1174,029,752 - 74,033,884 (-)Ensembl
Ensembl Acc Id: ENST00000542484
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1174,056,892 - 74,078,204 (-)Ensembl
Ensembl Acc Id: ENST00000542930
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1174,168,233 - 74,171,172 (-)Ensembl
Ensembl Acc Id: ENST00000544293
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1174,168,014 - 74,170,868 (-)Ensembl
Ensembl Acc Id: ENST00000679415   ⟹   ENSP00000505672
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1174,012,750 - 74,170,932 (-)Ensembl
Ensembl Acc Id: ENST00000679906   ⟹   ENSP00000505021
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1174,012,775 - 74,170,792 (-)Ensembl
Ensembl Acc Id: ENST00000679940
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1174,046,670 - 74,049,741 (-)Ensembl
Ensembl Acc Id: ENST00000680173
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1174,137,058 - 74,170,868 (-)Ensembl
Ensembl Acc Id: ENST00000680231   ⟹   ENSP00000505413
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1174,012,718 - 74,170,792 (-)Ensembl
Ensembl Acc Id: ENST00000680306
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1174,093,547 - 74,170,863 (-)Ensembl
Ensembl Acc Id: ENST00000680645   ⟹   ENSP00000506347
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1174,131,868 - 74,171,000 (-)Ensembl
Ensembl Acc Id: ENST00000680665   ⟹   ENSP00000505527
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1174,012,735 - 74,170,792 (-)Ensembl
Ensembl Acc Id: ENST00000680718   ⟹   ENSP00000505340
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1174,128,054 - 74,171,002 (-)Ensembl
Ensembl Acc Id: ENST00000680839   ⟹   ENSP00000506002
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1174,012,732 - 74,171,019 (-)Ensembl
Ensembl Acc Id: ENST00000681000
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1174,107,409 - 74,171,061 (-)Ensembl
Ensembl Acc Id: ENST00000681143   ⟹   ENSP00000505970
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1174,012,745 - 74,170,792 (-)Ensembl
Ensembl Acc Id: ENST00000681233
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1174,038,975 - 74,054,023 (-)Ensembl
Ensembl Acc Id: ENST00000681291   ⟹   ENSP00000505182
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1174,012,732 - 74,171,002 (-)Ensembl
Ensembl Acc Id: ENST00000681310   ⟹   ENSP00000506236
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1174,034,432 - 74,170,792 (-)Ensembl
Ensembl Acc Id: ENST00000681345   ⟹   ENSP00000504924
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1174,139,818 - 74,170,998 (-)Ensembl
Ensembl Acc Id: ENST00000681385   ⟹   ENSP00000505069
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1174,012,738 - 74,170,806 (-)Ensembl
Ensembl Acc Id: ENST00000681609   ⟹   ENSP00000505133
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1174,012,732 - 74,171,002 (-)Ensembl
Ensembl Acc Id: ENST00000681811   ⟹   ENSP00000506315
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1174,012,738 - 74,170,792 (-)Ensembl
Ensembl Acc Id: ENST00000681829   ⟹   ENSP00000505375
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1174,013,444 - 74,170,792 (-)Ensembl
Ensembl Acc Id: ENST00000681924   ⟹   ENSP00000505101
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1174,012,735 - 74,170,792 (-)Ensembl
RefSeq Acc Id: NM_001286577   ⟹   NP_001273506
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381174,012,718 - 74,171,002 (-)NCBI
HuRef1170,019,660 - 70,177,322 (-)NCBI
CHM1_11173,607,613 - 73,766,320 (-)NCBI
T2T-CHM13v2.01173,942,048 - 74,100,346 (-)NCBI
Sequence:
RefSeq Acc Id: NM_015531   ⟹   NP_056346
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381174,034,442 - 74,171,002 (-)NCBI
GRCh371173,723,759 - 73,882,064 (-)NCBI
Build 361173,423,128 - 73,559,712 (-)NCBI Archive
Celera1171,052,284 - 71,188,859 (-)RGD
HuRef1170,019,660 - 70,177,322 (-)NCBI
CHM1_11173,629,330 - 73,766,320 (-)NCBI
T2T-CHM13v2.01173,963,760 - 74,100,346 (-)NCBI
Sequence:
RefSeq Acc Id: NP_056346   ⟸   NM_015531
- Peptide Label: isoform 2
- UniProtKB: H7BZB4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001273506   ⟸   NM_001286577
- Peptide Label: isoform 1
- UniProtKB: Q4AC94 (UniProtKB/Swiss-Prot),   Q8NDH7 (UniProtKB/Swiss-Prot),   Q8NB87 (UniProtKB/Swiss-Prot),   Q8IYM4 (UniProtKB/Swiss-Prot),   Q6ZU92 (UniProtKB/Swiss-Prot),   Q3C1U9 (UniProtKB/Swiss-Prot),   Q2NLE1 (UniProtKB/Swiss-Prot),   E2QRD1 (UniProtKB/Swiss-Prot),   C9JR55 (UniProtKB/Swiss-Prot),   Q9Y4M2 (UniProtKB/Swiss-Prot),   A0A7P0Z475 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000334379   ⟸   ENST00000334126
Ensembl Acc Id: ENSP00000388750   ⟸   ENST00000414160
Ensembl Acc Id: ENSP00000439343   ⟸   ENST00000535954
Ensembl Acc Id: ENSP00000404577   ⟸   ENST00000442398
Ensembl Acc Id: ENSP00000323339   ⟸   ENST00000313663
Ensembl Acc Id: ENSP00000441742   ⟸   ENST00000538361
Ensembl Acc Id: ENSP00000445933   ⟸   ENST00000539061
Ensembl Acc Id: ENSP00000506347   ⟸   ENST00000680645
Ensembl Acc Id: ENSP00000505375   ⟸   ENST00000681829
Ensembl Acc Id: ENSP00000506236   ⟸   ENST00000681310
Ensembl Acc Id: ENSP00000505021   ⟸   ENST00000679906
Ensembl Acc Id: ENSP00000505527   ⟸   ENST00000680665
Ensembl Acc Id: ENSP00000504924   ⟸   ENST00000681345
Ensembl Acc Id: ENSP00000505069   ⟸   ENST00000681385
Ensembl Acc Id: ENSP00000505182   ⟸   ENST00000681291
Ensembl Acc Id: ENSP00000506002   ⟸   ENST00000680839
Ensembl Acc Id: ENSP00000505101   ⟸   ENST00000681924
Ensembl Acc Id: ENSP00000505672   ⟸   ENST00000679415
Ensembl Acc Id: ENSP00000505133   ⟸   ENST00000681609
Ensembl Acc Id: ENSP00000505413   ⟸   ENST00000680231
Ensembl Acc Id: ENSP00000505970   ⟸   ENST00000681143
Ensembl Acc Id: ENSP00000505340   ⟸   ENST00000680718
Ensembl Acc Id: ENSP00000506315   ⟸   ENST00000681811
Protein Domains
C2

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q4AC94-F1-model_v2 AlphaFold Q4AC94 1-2353 view protein structure

Promoters
RGD ID:6788701
Promoter ID:HG_KWN:13695
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:UC001OUT.2
Position:
Human AssemblyChrPosition (strand)Source
Build 361173,475,171 - 73,475,671 (-)MPROMDB
RGD ID:6789262
Promoter ID:HG_KWN:13696
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000289350,   ENST00000313681,   ENST00000328257,   ENST00000398451,   ENST00000398456,   NM_015531,   NM_016147,   UC001OUV.2
Position:
Human AssemblyChrPosition (strand)Source
Build 361173,559,591 - 73,560,091 (+)MPROMDB
RGD ID:7221527
Promoter ID:EPDNEW_H16508
Type:initiation region
Name:C2CD3_3
Description:C2 calcium dependent domain containing 3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H16509  EPDNEW_H16511  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381174,170,877 - 74,170,937EPDNEW
RGD ID:7221525
Promoter ID:EPDNEW_H16509
Type:initiation region
Name:C2CD3_1
Description:C2 calcium dependent domain containing 3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H16508  EPDNEW_H16511  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381174,171,000 - 74,171,060EPDNEW
RGD ID:7221529
Promoter ID:EPDNEW_H16511
Type:initiation region
Name:C2CD3_2
Description:C2 calcium dependent domain containing 3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H16509  EPDNEW_H16508  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381174,171,211 - 74,171,271EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:24564 AgrOrtholog
COSMIC C2CD3 COSMIC
Ensembl Genes ENSG00000168014 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000313663 ENTREZGENE
  ENST00000313663.11 UniProtKB/Swiss-Prot
  ENST00000334126 ENTREZGENE
  ENST00000334126.12 UniProtKB/Swiss-Prot
  ENST00000414160.7 UniProtKB/TrEMBL
  ENST00000442398 UniProtKB/TrEMBL
  ENST00000442398.7 UniProtKB/Swiss-Prot
  ENST00000535954.2 UniProtKB/TrEMBL
  ENST00000538361.2 UniProtKB/TrEMBL
  ENST00000539061.6 UniProtKB/TrEMBL
  ENST00000679415.1 UniProtKB/TrEMBL
  ENST00000679906.1 UniProtKB/TrEMBL
  ENST00000680231.1 UniProtKB/TrEMBL
  ENST00000680645.1 UniProtKB/TrEMBL
  ENST00000680665.1 UniProtKB/TrEMBL
  ENST00000680718.1 UniProtKB/TrEMBL
  ENST00000680839.1 UniProtKB/TrEMBL
  ENST00000681143.1 UniProtKB/TrEMBL
  ENST00000681291.1 UniProtKB/TrEMBL
  ENST00000681310.1 UniProtKB/TrEMBL
  ENST00000681345.1 UniProtKB/TrEMBL
  ENST00000681385.1 UniProtKB/TrEMBL
  ENST00000681609.1 UniProtKB/TrEMBL
  ENST00000681811.1 UniProtKB/TrEMBL
  ENST00000681829.1 UniProtKB/TrEMBL
  ENST00000681924.1 UniProtKB/TrEMBL
Gene3D-CATH 2.60.40.150 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000168014 GTEx
HGNC ID HGNC:24564 ENTREZGENE
Human Proteome Map C2CD3 Human Proteome Map
InterPro C2_C2CD3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  C2_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  C2_domain_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:26005 UniProtKB/Swiss-Prot
NCBI Gene 26005 ENTREZGENE
OMIM 615944 OMIM
PANTHER C2 DOMAIN-CONTAINING PROTEIN 3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  UNCHARACTERIZED UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam PF00168 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA162379082 PharmGKB
PROSITE PS50004 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART SM00239 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF49562 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A7P0T831_HUMAN UniProtKB/TrEMBL
  A0A7P0T883_HUMAN UniProtKB/TrEMBL
  A0A7P0T8E9_HUMAN UniProtKB/TrEMBL
  A0A7P0T8H7_HUMAN UniProtKB/TrEMBL
  A0A7P0T8V8_HUMAN UniProtKB/TrEMBL
  A0A7P0T995_HUMAN UniProtKB/TrEMBL
  A0A7P0T9H1_HUMAN UniProtKB/TrEMBL
  A0A7P0TAM9_HUMAN UniProtKB/TrEMBL
  A0A7P0TAU6_HUMAN UniProtKB/TrEMBL
  A0A7P0Z464_HUMAN UniProtKB/TrEMBL
  A0A7P0Z475 ENTREZGENE, UniProtKB/TrEMBL
  A0A7P0Z4H1_HUMAN UniProtKB/TrEMBL
  A0A7P0Z4J2_HUMAN UniProtKB/TrEMBL
  C2CD3_HUMAN UniProtKB/Swiss-Prot
  C9JR55 ENTREZGENE
  E2QRD1 ENTREZGENE
  F5H0U2_HUMAN UniProtKB/TrEMBL
  H0YFM6_HUMAN UniProtKB/TrEMBL
  H0YG44_HUMAN UniProtKB/TrEMBL
  H7BZB4 ENTREZGENE, UniProtKB/TrEMBL
  H7C288_HUMAN UniProtKB/TrEMBL
  Q2NLE1 ENTREZGENE
  Q3C1U9 ENTREZGENE
  Q4AC94 ENTREZGENE
  Q6ZU92 ENTREZGENE
  Q8IYM4 ENTREZGENE
  Q8NB87 ENTREZGENE
  Q8NDH7 ENTREZGENE
  Q9Y4M2 ENTREZGENE
UniProt Secondary C9JR55 UniProtKB/Swiss-Prot
  E2QRD1 UniProtKB/Swiss-Prot
  Q2NLE1 UniProtKB/Swiss-Prot
  Q3C1U9 UniProtKB/Swiss-Prot
  Q6ZU92 UniProtKB/Swiss-Prot
  Q8IYM4 UniProtKB/Swiss-Prot
  Q8NB87 UniProtKB/Swiss-Prot
  Q8NDH7 UniProtKB/Swiss-Prot
  Q9Y4M2 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2019-06-18 C2CD3  C2 domain containing 3 centriole elongation regulator  C2CD3  C2 calcium dependent domain containing 3  Symbol and/or name change 5135510 APPROVED
2016-06-21 C2CD3  C2 calcium dependent domain containing 3    C2 calcium-dependent domain containing 3  Symbol and/or name change 5135510 APPROVED