WWC2 (WW and C2 domain containing 2) - Rat Genome Database

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Gene: WWC2 (WW and C2 domain containing 2) Homo sapiens
Analyze
Symbol: WWC2
Name: WW and C2 domain containing 2
RGD ID: 1605043
HGNC Page HGNC:24148
Description: Enables kinase binding activity and signaling adaptor activity. Involved in several processes, including hippo signaling; negative regulation of hippo signaling; and negative regulation of organ growth. Located in cytosol. Is active in cytoplasm.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: BH-3-only member B; BH3-only member B protein; BOMB; FLJ22029; FLJ34082; WW domain-containing protein 2; WW, C2 and coiled-coil domain containing 2
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Black Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh384183,099,257 - 183,320,777 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl4183,099,120 - 183,320,777 (+)EnsemblGRCh38.p14 Ensemblhg38GRCh38
GRCh374184,020,410 - 184,241,930 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 364184,257,457 - 184,478,924 (+)NCBIBuild 36Build 36hg18NCBI36
Celera4181,354,474 - 181,575,877 (+)NCBICelera
Cytogenetic Map4q35.1NCBI
HuRef4179,780,892 - 180,002,267 (+)NCBIHuRef
CHM1_14183,996,866 - 184,218,376 (+)NCBICHM1_1
T2T-CHM13v2.04186,442,799 - 186,664,233 (+)NCBIT2T-CHM13v2.0
JBrowse:




Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
cytoplasm  (IBA,IDA,IEA)
cytosol  (IDA,IEA)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:8125298   PMID:12477932   PMID:14702039   PMID:15161933   PMID:15302935   PMID:15688006   PMID:18328708   PMID:19913121   PMID:20628086   PMID:20881960   PMID:21873635   PMID:21988832  
PMID:22948661   PMID:24453475   PMID:24682284   PMID:26186194   PMID:26673895   PMID:26760575   PMID:27220053   PMID:27432908   PMID:27880917   PMID:28065597   PMID:28514442   PMID:28675297  
PMID:28815883   PMID:29507755   PMID:29764989   PMID:30472188   PMID:32623387   PMID:33961781   PMID:34535262   PMID:35271311   PMID:35429439   PMID:36560452   PMID:36931259   PMID:37086090  
PMID:37528078   PMID:40437099  


Genomics

Comparative Map Data
WWC2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh384183,099,257 - 183,320,777 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl4183,099,120 - 183,320,777 (+)EnsemblGRCh38.p14 Ensemblhg38GRCh38
GRCh374184,020,410 - 184,241,930 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 364184,257,457 - 184,478,924 (+)NCBIBuild 36Build 36hg18NCBI36
Celera4181,354,474 - 181,575,877 (+)NCBICelera
Cytogenetic Map4q35.1NCBI
HuRef4179,780,892 - 180,002,267 (+)NCBIHuRef
CHM1_14183,996,866 - 184,218,376 (+)NCBICHM1_1
T2T-CHM13v2.04186,442,799 - 186,664,233 (+)NCBIT2T-CHM13v2.0
Wwc2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39848,279,117 - 48,443,579 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl848,276,994 - 48,443,959 (-)EnsemblGRCm39 EnsemblGRCm39
GRCm38847,826,082 - 47,990,544 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl847,823,959 - 47,990,924 (-)EnsemblGRCm38.p6 Ensemblmm10GRCm38
MGSCv37848,912,949 - 49,075,905 (-)NCBIMGSCv37MGSCv37mm9NCBIm37
MGSCv36849,326,412 - 49,489,368 (-)NCBIMGSCv36mm8
Celera850,505,747 - 50,669,369 (-)NCBICelera
Cytogenetic Map8B1.1NCBI
cM Map826.91NCBI
Wwc2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81650,991,096 - 51,154,529 (+)NCBIGRCr8GRCr8GRCr8
GRCr8 Ensembl1650,991,096 - 51,154,526 (+)EnsemblGRCr8
mRatBN7.21644,258,372 - 44,421,815 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1644,258,372 - 44,421,812 (+)EnsemblmRatBN7.2
UTH_Rnor_SHR_Utx1649,663,863 - 49,828,168 (+)NCBIUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01653,024,440 - 53,188,739 (+)NCBIUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01648,300,572 - 48,465,778 (+)NCBIUTH_Rnor_WKY_Bbb_1.0
Dahl_SR_JrHsd1650,917,466 - 51,081,775 (+)NCBI
Lyon_Normotensive1652,302,812 - 52,467,109 (+)NCBI
Lyon_Hypertensive1652,740,105 - 52,904,410 (+)NCBI
F344_StmMcwi1648,979,883 - 49,143,300 (+)NCBI
Rnor_6.01647,368,768 - 47,533,816 (+)NCBIRnor_6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1647,368,768 - 47,533,816 (+)EnsemblRnor_6.0 Ensemblrn6Rnor6.0
Rnor_5.01647,091,900 - 47,254,470 (+)NCBIRnor_5.0Rnor_5.0rn5
RGSC_v3.41647,456,709 - 47,624,245 (+)NCBIRGSC_v3.4RGSC_v3.4rn4
Celera1642,271,804 - 42,433,958 (+)NCBICelera
Cytogenetic Map16q11NCBI
Wwc2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495540325,482,601 - 25,627,580 (-)EnsemblChiLan1.0 Ensembl
ChiLan1.0NW_00495540325,482,601 - 25,602,412 (-)NCBIChiLan1.0ChiLan1.0
WWC2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v23180,835,775 - 181,050,865 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan14181,196,720 - 181,415,840 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v04175,280,079 - 175,495,156 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.14187,597,081 - 187,721,702 (+)NCBIPanPan1.1PanPan1.1panPan2
PanPan1.1 Ensembl4187,597,081 - 187,721,702 (+)EnsemblPanPan1.1 EnsemblpanPan2panpan1.1
WWC2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11647,014,151 - 47,185,456 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1647,013,943 - 47,185,500 (-)EnsemblCanFam3.1 EnsemblcanFam3CanFam3.1
Dog10K_Boxer_Tasha1647,447,206 - 47,652,095 (-)NCBIDog10K_Boxer_TashaDog10K_Boxer_Tasha
ROS_Cfam_1.01649,237,790 - 49,443,012 (-)NCBIROS_Cfam_1.0ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1649,237,582 - 49,443,483 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11647,199,477 - 47,404,477 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01647,813,883 - 48,019,107 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01647,954,522 - 48,159,690 (-)NCBIUU_Cfam_GSD_1.0UU_Cfam_GSD_1.0
Wwc2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mIctTri1.hap11432,541,191 - 32,753,705 (+)NCBImIctTri1.hap1
HiC_Itri_2NW_02440494332,242,691 - 32,360,134 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365545,752,038 - 5,899,089 (-)EnsemblSpeTri2.0 Ensembl
SpeTri2.0NW_0049365545,749,850 - 5,852,874 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
WWC2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1544,615,983 - 44,802,786 (+)EnsemblSscrofa11.1 EnsemblsusScr11Sscrofa11.1
Sscrofa11.11544,615,731 - 44,802,717 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21551,228,437 - 51,415,435 (+)NCBISscrofa10.2Sscrofa10.2susScr3
WWC2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mChlSab1.0.hap17133,749,945 - 133,968,633 (+)NCBImChlSab1.0.hap1
Vero_WHO_p1.0NW_023666037109,289,423 - 109,509,168 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
ChlSab1.17129,074,640 - 129,293,372 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl7129,074,847 - 129,290,392 (+)EnsemblChlSab1.1 EnsemblchlSab2Vervet-AGM
Wwc2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462476913,829,319 - 14,058,053 (+)NCBIHetGla 1.0HetGla 1.0hetGla2
HetGla_female_1.0 EnsemblNW_00462476913,829,415 - 14,053,067 (+)EnsemblHetGla_female_1.0 EnsemblhetGla2HetGla_female_1.0 Ensembl
Naked mole-rat maternal Ensembl635,338,522 - 35,568,685 (+)Ensembl
Wwc2
(Rattus rattus - black rat)
Black Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Rrattus_CSIRO_v11340,044,361 - 40,204,959 (+)NCBIRrattus_CSIRO_v1Rrattus_CSIRO_v1

Variants

.
Variants in WWC2
150 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 4q34.3-35.1(chr4:181579626-186100199)x1 copy number loss Developmental delay AND/OR other significant developmental or morphological phenotypes [RCV000050324] Chr4:4q34.3-35.1 pathogenic
GRCh38/hg38 4q34.1-35.2(chr4:173599911-188624331)x1 copy number loss See cases [RCV000050771] Chr4:4q34.1-35.2 pathogenic
GRCh38/hg38 4q32.2-35.2(chr4:162013220-189975519)x3 copy number gain Developmental delay AND/OR other significant developmental or morphological phenotypes [RCV000050649] Chr4:4q32.2-35.2 pathogenic
GRCh38/hg38 4q34.2-35.2(chr4:175483683-189975519)x1 copy number loss Developmental delay AND/OR other significant developmental or morphological phenotypes [RCV000051215] Chr4:4q34.2-35.2 pathogenic
GRCh38/hg38 4q26-35.2(chr4:118065569-190042639)x3 copy number gain See cases [RCV000051785] Chr4:4q26-35.2 pathogenic
GRCh38/hg38 4q27-35.2(chr4:121518223-190062270)x3 copy number gain See cases [RCV000051786] Chr4:4q27-35.2 pathogenic
GRCh38/hg38 4q31.23-35.2(chr4:148356485-189548183)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051789]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051789]|See cases [RCV000051789] Chr4:148356485..189548183 [GRCh38]
Chr4:149277637..190469337 [GRCh37]
Chr4:149497087..190706331 [NCBI36]
Chr4:4q31.23-35.2		 pathogenic
GRCh38/hg38 4q32.3-35.2(chr4:167218288-189975519)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051792]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051792]|See cases [RCV000051792] Chr4:167218288..189975519 [GRCh38]
Chr4:168139439..190828225 [GRCh37]
Chr4:168376014..191133668 [NCBI36]
Chr4:4q32.3-35.2		 pathogenic
GRCh38/hg38 4q34.1-35.2(chr4:172200228-189975519)x3 copy number gain See cases [RCV000051804] Chr4:4q34.1-35.2 pathogenic
GRCh38/hg38 4q34.3-35.2(chr4:179946068-189548183)x3 copy number gain See cases [RCV000051805] Chr4:4q34.3-35.2 pathogenic
GRCh38/hg38 4q35.1(chr4:182990639-186013514)x3 copy number gain See cases [RCV000051806] Chr4:4q35.1 pathogenic
GRCh38/hg38 4q34.1-35.1(chr4:174080892-183195538)x1 copy number loss Developmental delay AND/OR other significant developmental or morphological phenotypes [RCV000053354] Chr4:4q34.1-35.1 pathogenic
GRCh38/hg38 4q32.1-35.2(chr4:158568335-189975660)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053325]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053325]|See cases [RCV000053325] Chr4:158568335..189975660 [GRCh38]
Chr4:159489487..190828225 [GRCh37]
Chr4:159708937..191133809 [NCBI36]
Chr4:4q32.1-35.2		 pathogenic
GRCh38/hg38 4q32.3-35.2(chr4:163651681-189975519)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053327]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053327]|See cases [RCV000053327] Chr4:163651681..189975519 [GRCh38]
Chr4:164572833..190828225 [GRCh37]
Chr4:164792283..191133668 [NCBI36]
Chr4:4q32.3-35.2		 pathogenic
GRCh38/hg38 4q32.3-35.2(chr4:164039530-189982708)x1 copy number loss See cases [RCV000053347] Chr4:4q32.3-35.2 pathogenic
GRCh38/hg38 4q34.1-35.2(chr4:171507704-189869726)x1 copy number loss Developmental delay AND/OR other significant developmental or morphological phenotypes [RCV000053349] Chr4:4q34.1-35.2 pathogenic
GRCh38/hg38 4q34.1-35.2(chr4:172356988-189975519)x1 copy number loss Abnormality of cardiac morphology [RCV000053352] Chr4:4q34.1-35.2 pathogenic
GRCh38/hg38 4q34.1-35.2(chr4:173754675-189343295)x1 copy number loss See cases [RCV000053353] Chr4:4q34.1-35.2 pathogenic
GRCh38/hg38 4q35.1(chr4:182915444-183265722)x3 copy number gain Developmental delay AND/OR other significant developmental or morphological phenotypes [RCV000053644] Chr4:4q35.1 benign
GRCh38/hg38 4q34.3-35.2(chr4:181455566-189975660)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053377]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053377]|See cases [RCV000053377] Chr4:181455566..189975660 [GRCh38]
Chr4:182376719..190828225 [GRCh37]
Chr4:182613713..191133809 [NCBI36]
Chr4:4q34.3-35.2		 pathogenic
GRCh38/hg38 4q34.2-35.2(chr4:176263514-189975519)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053373]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053373]|See cases [RCV000053373] Chr4:176263514..189975519 [GRCh38]
Chr4:177184665..190828225 [GRCh37]
Chr4:177421659..191133668 [NCBI36]
Chr4:4q34.2-35.2		 pathogenic
GRCh38/hg38 4q34.3-35.2(chr4:177442769-190042639)x1 copy number loss Developmental delay AND/OR other significant developmental or morphological phenotypes [RCV000053374] Chr4:4q34.3-35.2 pathogenic
GRCh38/hg38 4q34.3-35.2(chr4:179669472-189975660)x1 copy number loss See cases [RCV000053375] Chr4:179669472..189975660 [GRCh38]
Chr4:180590625..190828225 [GRCh37]
Chr4:180827619..191133809 [NCBI36]
Chr4:4q34.3-35.2		 pathogenic
GRCh38/hg38 4q34.3-35.2(chr4:179945868-189975660)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053376]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053376]|See cases [RCV000053376] Chr4:179945868..189975660 [GRCh38]
Chr4:180867021..190828225 [GRCh37]
Chr4:181104015..191133809 [NCBI36]
Chr4:4q34.3-35.2		 pathogenic
NM_024949.5(WWC2):c.1800C>T (p.Ile600=) single nucleotide variant Malignant melanoma [RCV000066363] Chr4:183261423 [GRCh38]
Chr4:184182576 [GRCh37]
Chr4:184419570 [NCBI36]
Chr4:4q35.1		 not provided
GRCh38/hg38 4q35.1-35.2(chr4:182437091-190018185)x1 copy number loss Developmental delay AND/OR other significant developmental or morphological phenotypes [RCV000134276] Chr4:4q35.1-35.2 pathogenic
GRCh38/hg38 4q31.21-35.2(chr4:145042668-189975519)x3 copy number gain See cases [RCV000135845] Chr4:4q31.21-35.2 pathogenic
GRCh38/hg38 4q34.3-35.2(chr4:180451652-190095391)x3 copy number gain Developmental delay AND/OR other significant developmental or morphological phenotypes [RCV000135693] Chr4:4q34.3-35.2 likely pathogenic
GRCh38/hg38 4q34.1-35.2(chr4:173854560-189548183)x1 copy number loss See cases [RCV000136115] Chr4:4q34.1-35.2 pathogenic
GRCh38/hg38 4q34.3-35.2(chr4:177985956-189975519)x1 copy number loss Global developmental delay [RCV000137101] Chr4:4q34.3-35.2 pathogenic
GRCh38/hg38 4q31.1-35.2(chr4:138510532-189963195)x3 copy number gain See cases [RCV000136810] Chr4:4q31.1-35.2 pathogenic
GRCh38/hg38 4q28.3-35.2(chr4:131985253-190095391)x3 copy number gain See cases [RCV000137721] Chr4:4q28.3-35.2 pathogenic|likely benign
GRCh38/hg38 4q34.3-35.2(chr4:178014570-190095391)x1 copy number loss Developmental delay AND/OR other significant developmental or morphological phenotypes [RCV000137343] Chr4:4q34.3-35.2 pathogenic
GRCh38/hg38 4q34.3-35.2(chr4:178549472-190095391)x1 copy number loss Failure to thrive [RCV000137262] Chr4:4q34.3-35.2 pathogenic
GRCh38/hg38 4q34.3-35.2(chr4:180574962-190095391)x1 copy number loss Pierre-Robin sequence [RCV000137345] Chr4:4q34.3-35.2 pathogenic
GRCh38/hg38 4q34.1-35.2(chr4:174150183-188259055)x1 copy number loss See cases [RCV000137925] Chr4:174150183..188259055 [GRCh38]
Chr4:175071334..189180209 [GRCh37]
Chr4:175307909..189417203 [NCBI36]
Chr4:4q34.1-35.2		 likely pathogenic
GRCh38/hg38 4q35.1-35.2(chr4:183072743-190095391)x1 copy number loss Developmental delay AND/OR other significant developmental or morphological phenotypes [RCV000138668] Chr4:4q35.1-35.2 pathogenic
GRCh38/hg38 4q28.1-35.1(chr4:125432943-185761887)x3 copy number gain See cases [RCV000138578] Chr4:4q28.1-35.1 pathogenic|likely benign
GRCh38/hg38 4q33-35.2(chr4:169901205-190095391)x3 copy number gain Premature ovarian insufficiency [RCV000138540] Chr4:4q33-35.2 uncertain significance
GRCh38/hg38 4q33-35.2(chr4:169873508-190018185)x1 copy number loss See cases [RCV000140396] Chr4:4q33-35.2 pathogenic
GRCh38/hg38 4q32.3-35.2(chr4:165281036-190018185)x1 copy number loss Developmental delay AND/OR other significant developmental or morphological phenotypes [RCV000140414] Chr4:4q32.3-35.2 pathogenic
GRCh38/hg38 4q34.3-35.2(chr4:179295511-190036318)x3 copy number gain See cases [RCV000140450] Chr4:4q34.3-35.2 pathogenic
GRCh38/hg38 4q35.1(chr4:183235127-183370360)x3 copy number gain See cases [RCV000141310] Chr4:4q35.1 uncertain significance
GRCh38/hg38 4q32.1-35.2(chr4:160757699-190091407)x3 copy number gain Developmental delay AND/OR other significant developmental or morphological phenotypes [RCV000140982] Chr4:4q32.1-35.2 pathogenic
GRCh38/hg38 4q32.3-35.2(chr4:167373716-190036318)x1 copy number loss Micrognathia [RCV000141964] Chr4:4q32.3-35.2 pathogenic
GRCh38/hg38 4q34.1-35.2(chr4:173989029-189975519)x1 copy number loss See cases [RCV000141490] Chr4:4q34.1-35.2 pathogenic
GRCh38/hg38 4q35.1-35.2(chr4:182732498-187998523)x4 copy number gain See cases [RCV000141753] Chr4:4q35.1-35.2 likely pathogenic
GRCh38/hg38 4q34.3-35.1(chr4:181762338-185175891)x1 copy number loss See cases [RCV000142279] Chr4:4q34.3-35.1 uncertain significance
GRCh38/hg38 4q34.1-35.2(chr4:172501374-190095332)x1 copy number loss Coarse facial features [RCV000143079] Chr4:4q34.1-35.2 pathogenic
GRCh38/hg38 4q34.3-35.2(chr4:180717850-190095391)x3 copy number gain Abnormal facial shape [RCV000143010] Chr4:4q34.3-35.2 pathogenic|likely benign
GRCh38/hg38 4q33-35.2(chr4:170899124-190036318)x1 copy number loss Atrial septal defect [RCV000143232] Chr4:4q33-35.2 pathogenic
GRCh38/hg38 4q28.3-35.2(chr4:134935616-190036318)x3 copy number gain See cases [RCV000143559] Chr4:4q28.3-35.2 pathogenic
GRCh38/hg38 4q34.3-35.1(chr4:181579626-186100199)x1 copy number loss Hydrocephalus [RCV000148272] Chr4:4q34.3-35.1 pathogenic
GRCh37/hg19 4q34.1-35.2(chr4:176270886-190713650)x1 copy number loss Global developmental delay [RCV000239790] Chr4:4q34.1-35.2 pathogenic
GRCh37/hg19 4q26-35.2(chr4:119437495-190904301)x3 copy number gain Global developmental delay [RCV000240392] Chr4:4q26-35.2 pathogenic
GRCh37/hg19 4q34.1-35.2(chr4:175550289-190838582)x1 copy number loss See cases [RCV000446613] Chr4:175550289..190838582 [GRCh37]
Chr4:4q34.1-35.2		 pathogenic
GRCh37/hg19 4q32.3-35.2(chr4:166735148-190957473)x3 copy number gain See cases [RCV000446531] Chr4:166735148..190957473 [GRCh37]
Chr4:4q32.3-35.2		 pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3 copy number gain See cases [RCV000446653] Chr4:4p16.3-q35.2 pathogenic
GRCh37/hg19 4q34.1-35.2(chr4:175749001-190957473)x1 copy number loss See cases [RCV000445881] Chr4:175749001..190957473 [GRCh37]
Chr4:4q34.1-35.2		 pathogenic
GRCh37/hg19 4q34.1-35.2(chr4:175550289-190957473)x1 copy number loss See cases [RCV000448048] Chr4:175550289..190957473 [GRCh37]
Chr4:4q34.1-35.2		 pathogenic
GRCh37/hg19 4q35.1(chr4:183959053-186858555)x3 copy number gain See cases [RCV000448219] Chr4:4q35.1 uncertain significance
GRCh37/hg19 4q32.3-35.2(chr4:166436844-190957473)x3 copy number gain Delayed gross motor development [RCV000510222] Chr4:4q32.3-35.2 pathogenic
GRCh37/hg19 4q31.3-35.2(chr4:153890440-190957473)x3 copy number gain See cases [RCV000510713] Chr4:4q31.3-35.2 pathogenic
GRCh37/hg19 4q35.1(chr4:183421944-184235941)x3 copy number gain Micropenis [RCV000512012] Chr4:4q35.1 uncertain significance
GRCh37/hg19 4q25-35.2(chr4:109199664-189752726)x3 copy number gain Micrognathia [RCV000511945] Chr4:4q25-35.2 pathogenic
GRCh37/hg19 4q34.2-35.2(chr4:176306103-190957473)x3 copy number gain Aganglionic megacolon [RCV000511078] Chr4:4q34.2-35.2 pathogenic
NM_024949.6(WWC2):c.1493C>A (p.Pro498His) single nucleotide variant not specified [RCV004310477] Chr4:183261116 [GRCh38]
Chr4:184182269 [GRCh37]
Chr4:4q35.1		 uncertain significance
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3 copy number gain See cases [RCV000512241] Chr4:4p16.3-q35.2 pathogenic
GRCh37/hg19 4q32.1-35.2(chr4:159492464-190957473)x3 copy number gain not provided [RCV000682478] Chr4:4q32.1-35.2 pathogenic
GRCh37/hg19 4q32.3-35.2(chr4:169969014-190957473)x1 copy number loss not provided [RCV000682484] Chr4:4q32.3-35.2 pathogenic
GRCh37/hg19 4q34.1-35.2(chr4:175709188-190957473)x1 copy number loss not provided [RCV000682492] Chr4:4q34.1-35.2 pathogenic
GRCh37/hg19 4q34.3-35.2(chr4:178771936-190957473)x3 copy number gain not provided [RCV000682495] Chr4:4q34.3-35.2 pathogenic
Single allele deletion Not provided [RCV000677918] Chr4:176270886..190713650 [GRCh37]
Chr4:4q34.1-35.2		 pathogenic
GRCh37/hg19 4q34.2-35.2(chr4:176493246-190957473)x1 copy number loss not provided [RCV000682493] Chr4:4q34.2-35.2 pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190915650)x3 copy number gain not provided [RCV000743155] Chr4:49450..190915650 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4q34.3-35.2(chr4:183157313-191028879)x1 copy number loss not provided [RCV000744206] Chr4:183157313..191028879 [GRCh37]
Chr4:4q34.3-35.2		 pathogenic
GRCh37/hg19 4q35.1(chr4:184019373-184020735)x1 copy number loss not provided [RCV000744216] Chr4:184019373..184020735 [GRCh37]
Chr4:4q35.1		 benign
GRCh37/hg19 4q35.1(chr4:184019507-184021127)x1 copy number loss not provided [RCV000744217] Chr4:184019507..184021127 [GRCh37]
Chr4:4q35.1		 benign
GRCh37/hg19 4q35.1(chr4:184019607-184021127)x1 copy number loss not provided [RCV000744218] Chr4:184019607..184021127 [GRCh37]
Chr4:4q35.1		 benign
GRCh37/hg19 4q35.1-35.2(chr4:184040122-187880098)x3 copy number gain not provided [RCV000744219] Chr4:184040122..187880098 [GRCh37]
Chr4:4q35.1-35.2		 uncertain significance
GRCh37/hg19 4q35.1(chr4:184147895-184151144)x1 copy number loss not provided [RCV000744220] Chr4:184147895..184151144 [GRCh37]
Chr4:4q35.1		 benign
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190963766)x3 copy number gain not provided [RCV000743156] Chr4:49450..190963766 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:11525-191028879)x3 copy number gain not provided [RCV000743147] Chr4:11525..191028879 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
NM_024949.6(WWC2):c.1468C>T (p.Leu490=) single nucleotide variant not provided [RCV000962097] Chr4:183261091 [GRCh38]
Chr4:184182244 [GRCh37]
Chr4:4q35.1		 benign
GRCh37/hg19 4q33-35.2(chr4:171663620-190431429) copy number loss not provided [RCV000767673] Chr4:4q33-35.2 pathogenic
GRCh37/hg19 4q34.1-35.2(chr4:174610492-190427545) copy number loss not provided [RCV000767793] Chr4:4q34.1-35.2 pathogenic
GRCh37/hg19 4q35.1(chr4:183743325-184154080)x3 copy number gain not provided [RCV000847914] Chr4:4q35.1 uncertain significance
GRCh37/hg19 4q32.3-35.2(chr4:169607746-190957473)x3 copy number gain not provided [RCV000847360] Chr4:4q32.3-35.2 pathogenic
GRCh37/hg19 4q34.3-35.2(chr4:179752903-187987047)x3 copy number gain not provided [RCV001005627] Chr4:4q34.3-35.2 pathogenic
GRCh37/hg19 4q28.1-35.1(chr4:124873497-185278662)x3 copy number gain not provided [RCV000849686] Chr4:4q28.1-35.1 pathogenic
GRCh37/hg19 4q35.1(chr4:183712263-185501647)x1 copy number loss not provided [RCV000845694] Chr4:4q35.1 uncertain significance
GRCh37/hg19 4q35.1-35.2(chr4:183245174-190948359)x1 copy number loss not provided [RCV000998343] Chr4:4q35.1-35.2 likely pathogenic
GRCh37/hg19 4q34.3-35.2(chr4:178566256-190957473)x1 copy number loss not provided [RCV001005626] Chr4:4q34.3-35.2 pathogenic
NM_024949.6(WWC2):c.3195A>G (p.Thr1065=) single nucleotide variant not provided [RCV000956271] Chr4:183289446 [GRCh38]
Chr4:184210599 [GRCh37]
Chr4:4q35.1		 benign
GRCh37/hg19 4q35.1-35.2(chr4:183694501-190957473)x1 copy number loss not provided [RCV002472626] Chr4:4q35.1-35.2 pathogenic
NM_024949.6(WWC2):c.3113C>T (p.Thr1038Ile) single nucleotide variant not specified [RCV004326942] Chr4:183286031 [GRCh38]
Chr4:184207184 [GRCh37]
Chr4:4q35.1		 uncertain significance
NM_024949.6(WWC2):c.2734G>T (p.Ala912Ser) single nucleotide variant not specified [RCV005773519] Chr4:183282757 [GRCh38]
Chr4:184203910 [GRCh37]
Chr4:4q35.1		 uncertain significance
NM_024949.6(WWC2):c.2549A>G (p.Asp850Gly) single nucleotide variant not specified [RCV005773522] Chr4:183271228 [GRCh38]
Chr4:184192381 [GRCh37]
Chr4:4q35.1		 uncertain significance
NM_024949.6(WWC2):c.1790T>G (p.Ile597Ser) single nucleotide variant not specified [RCV005773524] Chr4:183261413 [GRCh38]
Chr4:184182566 [GRCh37]
Chr4:4q35.1		 uncertain significance
NM_024949.6(WWC2):c.2168G>T (p.Arg723Leu) single nucleotide variant not specified [RCV005773525] Chr4:183265912 [GRCh38]
Chr4:184187065 [GRCh37]
Chr4:4q35.1		 uncertain significance
NM_024949.6(WWC2):c.1015G>C (p.Asp339His) single nucleotide variant not specified [RCV005773526] Chr4:183253818 [GRCh38]
Chr4:184174971 [GRCh37]
Chr4:4q35.1		 uncertain significance
NM_024949.6(WWC2):c.3350G>C (p.Arg1117Thr) single nucleotide variant not specified [RCV005773527] Chr4:183289601 [GRCh38]
Chr4:184210754 [GRCh37]
Chr4:4q35.1		 uncertain significance
NM_024949.6(WWC2):c.2387G>A (p.Arg796Lys) single nucleotide variant not specified [RCV005773529] Chr4:183269150 [GRCh38]
Chr4:184190303 [GRCh37]
Chr4:4q35.1		 uncertain significance
NM_024949.6(WWC2):c.2042C>A (p.Pro681His) single nucleotide variant not specified [RCV004685632] Chr4:183265690 [GRCh38]
Chr4:184186843 [GRCh37]
Chr4:4q35.1		 uncertain significance
NM_024949.6(WWC2):c.2483A>G (p.Gln828Arg) single nucleotide variant not specified [RCV004685637] Chr4:183271162 [GRCh38]
Chr4:184192315 [GRCh37]
Chr4:4q35.1		 uncertain significance
NM_024949.6(WWC2):c.2855G>A (p.Ser952Asn) single nucleotide variant not specified [RCV004685639] Chr4:183282878 [GRCh38]
Chr4:184204031 [GRCh37]
Chr4:4q35.1		 uncertain significance
GRCh37/hg19 4q34.3-35.1(chr4:180023290-184127027)x1 copy number loss not provided [RCV001834535] Chr4:4q34.3-35.1 uncertain significance
GRCh37/hg19 4q34.1-35.2(chr4:175855408-190957473) copy number gain not specified [RCV002053471] Chr4:4q34.1-35.2 pathogenic
GRCh37/hg19 4q35.1-35.2(chr4:183221828-190957473) copy number loss not specified [RCV002053473] Chr4:4q35.1-35.2 pathogenic
GRCh37/hg19 4q32.1-35.2(chr4:159755174-190225765) copy number gain not specified [RCV002053465] Chr4:4q32.1-35.2 pathogenic
GRCh37/hg19 4q34.3-35.1(chr4:182811256-184082842) copy number loss not specified [RCV002053472] Chr4:4q34.3-35.1 uncertain significance
NM_024949.6(WWC2):c.2947C>T (p.Arg983Cys) single nucleotide variant not specified [RCV005773513] Chr4:183284289 [GRCh38]
Chr4:184205442 [GRCh37]
Chr4:4q35.1		 uncertain significance
NM_024949.6(WWC2):c.2794G>A (p.Val932Met) single nucleotide variant not specified [RCV005773515] Chr4:183282817 [GRCh38]
Chr4:184203970 [GRCh37]
Chr4:4q35.1		 uncertain significance
GRCh37/hg19 4q34.1-35.2(chr4:174944132-190957473)x1 copy number loss FETAL DEMISE [RCV002282976] Chr4:4q34.1-35.2 pathogenic
GRCh37/hg19 4q32.1-35.2(chr4:159174483-190957473)x1 copy number loss see cases [RCV002292401] Chr4:4q32.1-35.2 pathogenic
NM_024949.6(WWC2):c.3190C>T (p.Arg1064Trp) single nucleotide variant not specified [RCV004314754] Chr4:183289441 [GRCh38]
Chr4:184210594 [GRCh37]
Chr4:4q35.1		 uncertain significance
NM_001111319.3(CLDN22):c.140C>A (p.Thr47Asn) single nucleotide variant not specified [RCV004235941] Chr4:183320079 [GRCh38]
Chr4:184241232 [GRCh37]
Chr4:4q35.1		 uncertain significance
GRCh37/hg19 4q35.1(chr4:183958652-184213971)x3 copy number gain not provided [RCV002472899] Chr4:4q35.1 uncertain significance
NM_024949.6(WWC2):c.8G>A (p.Arg3Lys) single nucleotide variant not specified [RCV004093154] Chr4:183099499 [GRCh38]
Chr4:184020652 [GRCh37]
Chr4:4q35.1		 uncertain significance
NM_024949.6(WWC2):c.2401G>T (p.Ala801Ser) single nucleotide variant not specified [RCV004147525] Chr4:183271080 [GRCh38]
Chr4:184192233 [GRCh37]
Chr4:4q35.1		 uncertain significance
NM_001111319.3(CLDN22):c.409G>A (p.Val137Ile) single nucleotide variant not specified [RCV004242563] Chr4:183319810 [GRCh38]
Chr4:184240963 [GRCh37]
Chr4:4q35.1		 uncertain significance
NM_024949.6(WWC2):c.2204A>C (p.Lys735Thr) single nucleotide variant not specified [RCV004106244] Chr4:183265948 [GRCh38]
Chr4:184187101 [GRCh37]
Chr4:4q35.1		 uncertain significance
NM_024949.6(WWC2):c.3100G>A (p.Val1034Met) single nucleotide variant not specified [RCV004184466] Chr4:183286018 [GRCh38]
Chr4:184207171 [GRCh37]
Chr4:4q35.1		 uncertain significance
NM_001111319.3(CLDN22):c.574G>A (p.Ala192Thr) single nucleotide variant not specified [RCV004080325] Chr4:183319645 [GRCh38]
Chr4:184240798 [GRCh37]
Chr4:4q35.1		 uncertain significance
NM_001111319.3(CLDN22):c.236T>C (p.Val79Ala) single nucleotide variant not specified [RCV004142221] Chr4:183319983 [GRCh38]
Chr4:184241136 [GRCh37]
Chr4:4q35.1		 uncertain significance
NM_024949.6(WWC2):c.1192G>A (p.Glu398Lys) single nucleotide variant not specified [RCV004236411] Chr4:183253995 [GRCh38]
Chr4:184175148 [GRCh37]
Chr4:4q35.1		 uncertain significance
NM_024949.6(WWC2):c.1548G>T (p.Gln516His) single nucleotide variant not specified [RCV004234236] Chr4:183261171 [GRCh38]
Chr4:184182324 [GRCh37]
Chr4:4q35.1		 uncertain significance
NM_024949.6(WWC2):c.935A>G (p.Tyr312Cys) single nucleotide variant not specified [RCV004140190] Chr4:183249975 [GRCh38]
Chr4:184171128 [GRCh37]
Chr4:4q35.1		 uncertain significance
NM_024949.6(WWC2):c.3245G>T (p.Arg1082Leu) single nucleotide variant not specified [RCV004207468] Chr4:183289496 [GRCh38]
Chr4:184210649 [GRCh37]
Chr4:4q35.1		 uncertain significance
NM_024949.6(WWC2):c.3463C>T (p.Arg1155Trp) single nucleotide variant not specified [RCV004074076] Chr4:183312419 [GRCh38]
Chr4:184233572 [GRCh37]
Chr4:4q35.1		 uncertain significance
NM_024949.6(WWC2):c.1868T>C (p.Leu623Pro) single nucleotide variant not specified [RCV004143764] Chr4:183261491 [GRCh38]
Chr4:184182644 [GRCh37]
Chr4:4q35.1		 uncertain significance
NM_024949.6(WWC2):c.397G>A (p.Val133Met) single nucleotide variant not specified [RCV004150341] Chr4:183208108 [GRCh38]
Chr4:184129261 [GRCh37]
Chr4:4q35.1		 uncertain significance
NM_001111319.3(CLDN22):c.124G>A (p.Glu42Lys) single nucleotide variant not specified [RCV004232304] Chr4:183320095 [GRCh38]
Chr4:184241248 [GRCh37]
Chr4:4q35.1		 uncertain significance
NM_024949.6(WWC2):c.3280C>G (p.Arg1094Gly) single nucleotide variant not specified [RCV004192489] Chr4:183289531 [GRCh38]
Chr4:184210684 [GRCh37]
Chr4:4q35.1		 uncertain significance
NM_024949.6(WWC2):c.617T>A (p.Met206Lys) single nucleotide variant not specified [RCV004071266] Chr4:183245430 [GRCh38]
Chr4:184166583 [GRCh37]
Chr4:4q35.1		 uncertain significance
NM_024949.6(WWC2):c.326A>T (p.Asp109Val) single nucleotide variant not specified [RCV004121798] Chr4:183208037 [GRCh38]
Chr4:184129190 [GRCh37]
Chr4:4q35.1		 uncertain significance
NM_024949.6(WWC2):c.1790T>C (p.Ile597Thr) single nucleotide variant not specified [RCV004138477] Chr4:183261413 [GRCh38]
Chr4:184182566 [GRCh37]
Chr4:4q35.1		 uncertain significance
NM_024949.6(WWC2):c.2920G>A (p.Asp974Asn) single nucleotide variant not specified [RCV004189069] Chr4:183284262 [GRCh38]
Chr4:184205415 [GRCh37]
Chr4:4q35.1		 uncertain significance
NM_024949.6(WWC2):c.2239A>G (p.Thr747Ala) single nucleotide variant not specified [RCV004212901] Chr4:183269002 [GRCh38]
Chr4:184190155 [GRCh37]
Chr4:4q35.1		 likely benign|evidence_only
NM_024949.6(WWC2):c.2086A>G (p.Ile696Val) single nucleotide variant not specified [RCV004175534] Chr4:183265734 [GRCh38]
Chr4:184186887 [GRCh37]
Chr4:4q35.1		 likely benign
NM_024949.6(WWC2):c.1484G>T (p.Gly495Val) single nucleotide variant not specified [RCV004075346] Chr4:183261107 [GRCh38]
Chr4:184182260 [GRCh37]
Chr4:4q35.1		 uncertain significance
NM_024949.6(WWC2):c.553A>G (p.Met185Val) single nucleotide variant not specified [RCV004080437] Chr4:183240213 [GRCh38]
Chr4:184161366 [GRCh37]
Chr4:4q35.1		 uncertain significance
NM_024949.6(WWC2):c.1081G>A (p.Val361Ile) single nucleotide variant not specified [RCV004215685] Chr4:183253884 [GRCh38]
Chr4:184175037 [GRCh37]
Chr4:4q35.1		 uncertain significance
NM_024949.6(WWC2):c.100A>G (p.Arg34Gly) single nucleotide variant not specified [RCV005773528] Chr4:183099591 [GRCh38]
Chr4:184020744 [GRCh37]
Chr4:4q35.1		 uncertain significance
NM_024949.6(WWC2):c.496G>A (p.Ala166Thr) single nucleotide variant not specified [RCV005773503] Chr4:183208999 [GRCh38]
Chr4:184130152 [GRCh37]
Chr4:4q35.1		 uncertain significance
NM_024949.6(WWC2):c.2656G>C (p.Glu886Gln) single nucleotide variant not specified [RCV005773523] Chr4:183280869 [GRCh38]
Chr4:184202022 [GRCh37]
Chr4:4q35.1		 uncertain significance
GRCh37/hg19 4q32.1-35.2(chr4:161355371-190957473)x3 copy number gain not provided [RCV006437805] Chr4:4q32.1-35.2 pathogenic
NM_024949.6(WWC2):c.1525G>A (p.Glu509Lys) single nucleotide variant not specified [RCV004685633] Chr4:183261148 [GRCh38]
Chr4:184182301 [GRCh37]
Chr4:4q35.1		 uncertain significance
NM_001111319.3(CLDN22):c.70T>C (p.Ser24Pro) single nucleotide variant not specified [RCV004273604] Chr4:183320149 [GRCh38]
Chr4:184241302 [GRCh37]
Chr4:4q35.1		 uncertain significance
NM_024949.6(WWC2):c.3493C>T (p.Arg1165Trp) single nucleotide variant not specified [RCV004284773] Chr4:183312449 [GRCh38]
Chr4:184233602 [GRCh37]
Chr4:4q35.1		 uncertain significance
NM_001111319.3(CLDN22):c.568A>G (p.Ser190Gly) single nucleotide variant not specified [RCV004285256] Chr4:183319651 [GRCh38]
Chr4:184240804 [GRCh37]
Chr4:4q35.1		 uncertain significance
NM_001111319.3(CLDN22):c.136T>C (p.Trp46Arg) single nucleotide variant not specified [RCV004272191] Chr4:183320083 [GRCh38]
Chr4:184241236 [GRCh37]
Chr4:4q35.1		 uncertain significance
NM_024949.6(WWC2):c.2343G>C (p.Gln781His) single nucleotide variant not specified [RCV005773498] Chr4:183269106 [GRCh38]
Chr4:184190259 [GRCh37]
Chr4:4q35.1		 uncertain significance
NM_024949.6(WWC2):c.1258A>T (p.Thr420Ser) single nucleotide variant not specified [RCV005773499] Chr4:183259700 [GRCh38]
Chr4:184180853 [GRCh37]
Chr4:4q35.1		 uncertain significance
NM_024949.6(WWC2):c.2991T>A (p.Ser997Arg) single nucleotide variant not specified [RCV005773514] Chr4:183284333 [GRCh38]
Chr4:184205486 [GRCh37]
Chr4:4q35.1		 uncertain significance
NM_024949.6(WWC2):c.283G>A (p.Glu95Lys) single nucleotide variant not specified [RCV005773518] Chr4:183207994 [GRCh38]
Chr4:184129147 [GRCh37]
Chr4:4q35.1		 uncertain significance
NM_024949.6(WWC2):c.1126G>T (p.Ala376Ser) single nucleotide variant not specified [RCV004331814] Chr4:183253929 [GRCh38]
Chr4:184175082 [GRCh37]
Chr4:4q35.1		 uncertain significance
NM_024949.6(WWC2):c.3118C>T (p.Arg1040Cys) single nucleotide variant not specified [RCV004318306] Chr4:183286036 [GRCh38]
Chr4:184207189 [GRCh37]
Chr4:4q35.1		 uncertain significance
NM_024949.6(WWC2):c.1710G>A (p.Met570Ile) single nucleotide variant not specified [RCV005773530] Chr4:183261333 [GRCh38]
Chr4:184182486 [GRCh37]
Chr4:4q35.1		 uncertain significance
NM_001111319.3(CLDN22):c.370A>G (p.Ile124Val) single nucleotide variant not specified [RCV005806107] Chr4:183319849 [GRCh38]
Chr4:184241002 [GRCh37]
Chr4:4q35.1		 likely benign
NM_024949.6(WWC2):c.2260C>T (p.Arg754Cys) single nucleotide variant not specified [RCV005527902] Chr4:183269023 [GRCh38]
Chr4:184190176 [GRCh37]
Chr4:4q35.1		 uncertain significance
NM_024949.6(WWC2):c.1444T>C (p.Tyr482His) single nucleotide variant not specified [RCV005511743] Chr4:183261067 [GRCh38]
Chr4:184182220 [GRCh37]
Chr4:4q35.1		 uncertain significance
NM_024949.6(WWC2):c.2113G>A (p.Gly705Arg) single nucleotide variant not specified [RCV005527910] Chr4:183265761 [GRCh38]
Chr4:184186914 [GRCh37]
Chr4:4q35.1		 uncertain significance
NM_024949.6(WWC2):c.2795T>A (p.Val932Glu) single nucleotide variant not specified [RCV005511745] Chr4:183282818 [GRCh38]
Chr4:184203971 [GRCh37]
Chr4:4q35.1		 uncertain significance
GRCh37/hg19 4q35.1-35.2(chr4:184213971-190957473)x1 copy number loss not provided [RCV006437802] Chr4:4q35.1-35.2 pathogenic
NM_001111319.3(CLDN22):c.419T>C (p.Val140Ala) single nucleotide variant not specified [RCV005806106] Chr4:183319800 [GRCh38]
Chr4:184240953 [GRCh37]
Chr4:4q35.1		 uncertain significance
NM_001111319.3(CLDN22):c.553T>C (p.Cys185Arg) single nucleotide variant not specified [RCV005806108] Chr4:183319666 [GRCh38]
Chr4:184240819 [GRCh37]
Chr4:4q35.1		 uncertain significance
NM_024949.6(WWC2):c.2052G>T (p.Met684Ile) single nucleotide variant not specified [RCV006344197] Chr4:183265700 [GRCh38]
Chr4:184186853 [GRCh37]
Chr4:4q35.1		 likely benign
NM_024949.6(WWC2):c.1580C>G (p.Ala527Gly) single nucleotide variant Familial cancer of breast [RCV005948539] Chr4:183261203 [GRCh38]
Chr4:184182356 [GRCh37]
Chr4:4q35.1		 evidence_only
NM_024949.6(WWC2):c.2789C>G (p.Thr930Ser) single nucleotide variant not specified [RCV006344202] Chr4:183282812 [GRCh38]
Chr4:184203965 [GRCh37]
Chr4:4q35.1		 uncertain significance
NM_024949.6(WWC2):c.3049-18T>A single nucleotide variant Familial pancreatic carcinoma [RCV005948550] Chr4:183285949 [GRCh38]
Chr4:184207102 [GRCh37]
Chr4:4q35.1		 evidence_only
NM_024949.6(WWC2):c.3206T>C (p.Leu1069Ser) single nucleotide variant not specified [RCV006344206] Chr4:183289457 [GRCh38]
Chr4:184210610 [GRCh37]
Chr4:4q35.1		 uncertain significance
NM_024949.6(WWC2):c.3251A>G (p.Asn1084Ser) single nucleotide variant not specified [RCV005527903] Chr4:183289502 [GRCh38]
Chr4:184210655 [GRCh37]
Chr4:4q35.1		 uncertain significance
GRCh38/hg38 4q34.3-35.2(chr4:177853624-190036305)x1 copy number loss not provided [RCV006605547] Chr4:4q34.3-35.2 likely pathogenic
NM_001111319.3(CLDN22):c.333G>C (p.Gln111His) single nucleotide variant not specified [RCV005548288] Chr4:183319886 [GRCh38]
Chr4:184241039 [GRCh37]
Chr4:4q35.1		 uncertain significance
NM_024949.6(WWC2):c.2291T>C (p.Ile764Thr) single nucleotide variant not specified [RCV006344198] Chr4:183269054 [GRCh38]
Chr4:184190207 [GRCh37]
Chr4:4q35.1		 uncertain significance
NM_024949.6(WWC2):c.1404A>C (p.Glu468Asp) single nucleotide variant not specified [RCV006344212] Chr4:183261027 [GRCh38]
Chr4:184182180 [GRCh37]
Chr4:4q35.1		 uncertain significance
NM_001111319.3(CLDN22):c.330T>G (p.Ser110Arg) single nucleotide variant not specified [RCV005548287] Chr4:183319889 [GRCh38]
Chr4:184241042 [GRCh37]
Chr4:4q35.1		 likely benign
NM_024949.6(WWC2):c.3036G>C (p.Gln1012His) single nucleotide variant not specified [RCV005511744] Chr4:183284378 [GRCh38]
Chr4:184205531 [GRCh37]
Chr4:4q35.1		 uncertain significance
NM_024949.6(WWC2):c.3141+150A>G single nucleotide variant Ovarian serous cystadenocarcinoma [RCV005948553] Chr4:183286209 [GRCh38]
Chr4:184207362 [GRCh37]
Chr4:4q35.1		 evidence_only
NM_024949.6(WWC2):c.3125G>C (p.Ser1042Thr) single nucleotide variant not specified [RCV004357808] Chr4:183286043 [GRCh38]
Chr4:184207196 [GRCh37]
Chr4:4q35.1		 uncertain significance
NM_024949.6(WWC2):c.2335T>G (p.Leu779Val) single nucleotide variant not specified [RCV004355717] Chr4:183269098 [GRCh38]
Chr4:184190251 [GRCh37]
Chr4:4q35.1		 uncertain significance
NM_001111319.3(CLDN22):c.37G>A (p.Gly13Arg) single nucleotide variant not specified [RCV004347973] Chr4:183320182 [GRCh38]
Chr4:184241335 [GRCh37]
Chr4:4q35.1		 uncertain significance
NM_001111319.3(CLDN22):c.536G>A (p.Gly179Glu) single nucleotide variant not specified [RCV004344596] Chr4:183319683 [GRCh38]
Chr4:184240836 [GRCh37]
Chr4:4q35.1		 uncertain significance
NM_024949.6(WWC2):c.980C>T (p.Ser327Leu) single nucleotide variant not specified [RCV004361877] Chr4:183253783 [GRCh38]
Chr4:184174936 [GRCh37]
Chr4:4q35.1		 uncertain significance
NM_024949.6(WWC2):c.2111T>C (p.Ile704Thr) single nucleotide variant not specified [RCV004359138] Chr4:183265759 [GRCh38]
Chr4:184186912 [GRCh37]
Chr4:4q35.1		 uncertain significance
Single allele deletion Not Provided [RCV003448667] Chr4:180937545..190915069 [GRCh37]
Chr4:4q34.3-35.2		 pathogenic
GRCh37/hg19 4q32.3-35.2(chr4:167409608-190957473)x3 copy number gain not provided [RCV003484595] Chr4:4q32.3-35.2 pathogenic
NM_024949.6(WWC2):c.467G>A (p.Ser156Asn) single nucleotide variant not specified [RCV006344203] Chr4:183208970 [GRCh38]
Chr4:184130123 [GRCh37]
Chr4:4q35.1		 uncertain significance
NM_024949.6(WWC2):c.2921A>G (p.Asp974Gly) single nucleotide variant not specified [RCV006344204] Chr4:183284263 [GRCh38]
Chr4:184205416 [GRCh37]
Chr4:4q35.1		 uncertain significance
NM_024949.6(WWC2):c.1687G>A (p.Val563Ile) single nucleotide variant not specified [RCV006344205] Chr4:183261310 [GRCh38]
Chr4:184182463 [GRCh37]
Chr4:4q35.1		 uncertain significance
NM_024949.6(WWC2):c.2045G>C (p.Ser682Thr) single nucleotide variant not specified [RCV006344208] Chr4:183265693 [GRCh38]
Chr4:184186846 [GRCh37]
Chr4:4q35.1		 uncertain significance
NM_024949.6(WWC2):c.279G>T (p.Arg93Ser) single nucleotide variant not specified [RCV006344199] Chr4:183207990 [GRCh38]
Chr4:184129143 [GRCh37]
Chr4:4q35.1		 uncertain significance
NM_024949.6(WWC2):c.2206G>A (p.Val736Ile) single nucleotide variant not specified [RCV006344200] Chr4:183265950 [GRCh38]
Chr4:184187103 [GRCh37]
Chr4:4q35.1		 uncertain significance
GRCh37/hg19 4q24-35.2(chr4:101203509-190957473)x3 copy number gain not specified [RCV003986496] Chr4:4q24-35.2 pathogenic
NM_024949.5(WWC2):c.132-3576G>C single nucleotide variant Lung cancer [RCV000094447] Chr4:183190023 [GRCh38]
Chr4:184111176 [GRCh37]
Chr4:4q35.1		 uncertain significance
GRCh38/hg38 4q32.3-35.2(chr4:166317587-190095391)x1 copy number loss See cases [RCV000137532] Chr4:4q32.3-35.2 pathogenic
GRCh38/hg38 4q32.3-35.2(chr4:168970400-186936738)x1 copy number loss Developmental delay AND/OR other significant developmental or morphological phenotypes [RCV000142368] Chr4:4q32.3-35.2 pathogenic
GRCh38/hg38 4q32.3-35.2(chr4:168119317-190095391)x3 copy number gain Cryptorchidism [RCV000143331] Chr4:4q32.3-35.2 pathogenic
GRCh38/hg38 4q34.3-35.2(chr4:176756632-189621964)x1 copy number loss See cases [RCV000143626] Chr4:4q34.3-35.2 likely pathogenic
GRCh37/hg19 4q28.3-35.1(chr4:136912336-184253252)x3 copy number gain Increased nuchal translucency [RCV000240245] Chr4:4q28.3-35.1 pathogenic
NM_024949.6(WWC2):c.3260T>C (p.Leu1087Pro) single nucleotide variant Long QT syndrome [RCV000190208] Chr4:183289511 [GRCh38]
Chr4:184210664 [GRCh37]
Chr4:4q35.1		 likely benign
GRCh37/hg19 4q34.3-35.2(chr4:178243625-190713650)x1 copy number loss Cryptorchidism [RCV000239851] Chr4:4q34.3-35.2 pathogenic
GRCh37/hg19 4q32.3-35.2(chr4:167779888-190957473)x1 copy number loss see cases [RCV002292706] Chr4:4q32.3-35.2 pathogenic
GRCh37/hg19 4q32.3-35.2(chr4:167413365-190957473)x1 copy number loss See cases [RCV000446115] Chr4:167413365..190957473 [GRCh37]
Chr4:4q32.3-35.2		 pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473) copy number gain See cases [RCV000510453] Chr4:4p16.3-q35.2 pathogenic
GRCh37/hg19 4q22.1-35.2(chr4:93071152-190957473)x3 copy number gain Neonatal hypoglycemia [RCV000510970] Chr4:4q22.1-35.2 pathogenic
GRCh37/hg19 4q34.3-35.2(chr4:180702769-190957473)x3 copy number gain Microcephaly [RCV000512153] Chr4:4q34.3-35.2 pathogenic
GRCh37/hg19 4q32.1-35.2(chr4:156465633-190957473)x3 copy number gain Aganglionic megacolon [RCV000512542] Chr4:4q32.1-35.2 pathogenic
NM_024949.6(WWC2):c.1138C>T (p.Arg380Trp) single nucleotide variant not specified [RCV004320388] Chr4:183253941 [GRCh38]
Chr4:184175094 [GRCh37]
Chr4:4q35.1		 uncertain significance
GRCh37/hg19 4q32.3-35.2(chr4:165010461-190957473)x1 copy number loss not provided [RCV001005612] Chr4:4q32.3-35.2 pathogenic
GRCh37/hg19 4q34.3-35.2(chr4:179996712-190957473)x1 copy number loss not provided [RCV000849865] Chr4:4q34.3-35.2 pathogenic
GRCh37/hg19 4q31.3-35.2(chr4:151174061-190957473)x3 copy number gain not provided [RCV000849098] Chr4:4q31.3-35.2 pathogenic
GRCh37/hg19 4q35.1(chr4:183712263-185501647)x1 copy number loss not provided [RCV000845695] Chr4:4q35.1 uncertain significance
GRCh37/hg19 4q34.2-35.2(chr4:177189906-190816266)x1 copy number loss not provided [RCV000846268] Chr4:4q34.2-35.2 pathogenic
GRCh37/hg19 4q32.3-35.2(chr4:166623890-190957473)x1 copy number loss not provided [RCV000845722] Chr4:4q32.3-35.2 pathogenic
NM_024949.6(WWC2):c.817T>A (p.Ser273Thr) single nucleotide variant not specified [RCV004293855] Chr4:183248798 [GRCh38]
Chr4:184169951 [GRCh37]
Chr4:4q35.1		 uncertain significance
NM_024949.6(WWC2):c.2346G>A (p.Lys782=) single nucleotide variant not provided [RCV000932506] Chr4:183269109 [GRCh38]
Chr4:184190262 [GRCh37]
Chr4:4q35.1		 likely benign
NM_024949.6(WWC2):c.874G>A (p.Gly292Arg) single nucleotide variant not specified [RCV005773504] Chr4:183248855 [GRCh38]
Chr4:184170008 [GRCh37]
Chr4:4q35.1		 uncertain significance
NM_024949.6(WWC2):c.3236G>A (p.Arg1079Gln) single nucleotide variant not specified [RCV005773506] Chr4:183289487 [GRCh38]
Chr4:184210640 [GRCh37]
Chr4:4q35.1		 uncertain significance
NM_024949.6(WWC2):c.2948G>A (p.Arg983His) single nucleotide variant not specified [RCV005773510] Chr4:183284290 [GRCh38]
Chr4:184205443 [GRCh37]
Chr4:4q35.1		 uncertain significance
GRCh37/hg19 4q34.3-35.1(chr4:181853722-184723116)x1 copy number loss not provided [RCV001259889] Chr4:4q34.3-35.1 uncertain significance
GRCh37/hg19 4q35.1(chr4:183608690-184216911)x3 copy number gain not provided [RCV001259890] Chr4:4q35.1 likely benign
GRCh37/hg19 4q32.3-35.1(chr4:169108358-184425536)x1 copy number loss Micrognathia [RCV001263167] Chr4:4q32.3-35.1 pathogenic
GRCh37/hg19 4q34.3-35.2(chr4:179554876-190916678) copy number loss Atypical behavior [RCV001291982] Chr4:4q34.3-35.2 likely pathogenic
NC_000004.11:g.(?_183245174)_(184633797_?)del deletion not provided [RCV003122487] Chr4:4q35.1 pathogenic
NM_024949.6(WWC2):c.1787A>G (p.Asp596Gly) single nucleotide variant not specified [RCV005773521] Chr4:183261410 [GRCh38]
Chr4:184182563 [GRCh37]
Chr4:4q35.1		 uncertain significance
NM_024949.6(WWC2):c.2834A>G (p.Asn945Ser) single nucleotide variant not specified [RCV004331815] Chr4:183282857 [GRCh38]
Chr4:184204010 [GRCh37]
Chr4:4q35.1		 likely benign
NM_024949.6(WWC2):c.1570G>C (p.Gly524Arg) single nucleotide variant not specified [RCV004311086] Chr4:183261193 [GRCh38]
Chr4:184182346 [GRCh37]
Chr4:4q35.1		 uncertain significance
NM_024949.6(WWC2):c.3191G>A (p.Arg1064Gln) single nucleotide variant not specified [RCV004117947] Chr4:183289442 [GRCh38]
Chr4:184210595 [GRCh37]
Chr4:4q35.1		 uncertain significance
NM_001111319.3(CLDN22):c.49T>C (p.Ser17Pro) single nucleotide variant not specified [RCV004109816] Chr4:183320170 [GRCh38]
Chr4:184241323 [GRCh37]
Chr4:4q35.1		 uncertain significance
NM_024949.6(WWC2):c.170A>C (p.Asp57Ala) single nucleotide variant not specified [RCV004138959] Chr4:183193637 [GRCh38]
Chr4:184114790 [GRCh37]
Chr4:4q35.1		 uncertain significance
NM_024949.6(WWC2):c.1864G>T (p.Asp622Tyr) single nucleotide variant not specified [RCV004149158] Chr4:183261487 [GRCh38]
Chr4:184182640 [GRCh37]
Chr4:4q35.1		 uncertain significance
NM_024949.6(WWC2):c.1133G>A (p.Arg378Lys) single nucleotide variant not specified [RCV004158817] Chr4:183253936 [GRCh38]
Chr4:184175089 [GRCh37]
Chr4:4q35.1		 uncertain significance
NM_024949.6(WWC2):c.3244C>T (p.Arg1082Cys) single nucleotide variant not specified [RCV004213172] Chr4:183289495 [GRCh38]
Chr4:184210648 [GRCh37]
Chr4:4q35.1		 uncertain significance
NM_024949.6(WWC2):c.1939G>A (p.Val647Met) single nucleotide variant not specified [RCV004193153] Chr4:183265007 [GRCh38]
Chr4:184186160 [GRCh37]
Chr4:4q35.1		 uncertain significance
NM_024949.6(WWC2):c.661A>G (p.Ile221Val) single nucleotide variant not specified [RCV005773500] Chr4:183245474 [GRCh38]
Chr4:184166627 [GRCh37]
Chr4:4q35.1		 uncertain significance
NM_024949.6(WWC2):c.584G>C (p.Gly195Ala) single nucleotide variant not specified [RCV005773502] Chr4:183240244 [GRCh38]
Chr4:184161397 [GRCh37]
Chr4:4q35.1		 uncertain significance
NM_024949.6(WWC2):c.248C>T (p.Thr83Met) single nucleotide variant not specified [RCV005773512] Chr4:183207959 [GRCh38]
Chr4:184129112 [GRCh37]
Chr4:4q35.1		 uncertain significance
NM_024949.6(WWC2):c.2021A>G (p.Tyr674Cys) single nucleotide variant not specified [RCV005527911] Chr4:183265089 [GRCh38]
Chr4:184186242 [GRCh37]
Chr4:4q35.1		 uncertain significance
NM_024949.6(WWC2):c.910G>A (p.Glu304Lys) single nucleotide variant not specified [RCV005511741] Chr4:183249950 [GRCh38]
Chr4:184171103 [GRCh37]
Chr4:4q35.1		 uncertain significance
NM_001111319.3(CLDN22):c.278T>C (p.Leu93Pro) single nucleotide variant not specified [RCV005806105] Chr4:183319941 [GRCh38]
Chr4:184241094 [GRCh37]
Chr4:4q35.1		 uncertain significance
NM_001111319.3(CLDN22):c.602T>C (p.Val201Ala) single nucleotide variant not specified [RCV004254577] Chr4:183319617 [GRCh38]
Chr4:184240770 [GRCh37]
Chr4:4q35.1		 uncertain significance
NM_024949.6(WWC2):c.2134A>G (p.Ser712Gly) single nucleotide variant not specified [RCV004310979] Chr4:183265878 [GRCh38]
Chr4:184187031 [GRCh37]
Chr4:4q35.1		 uncertain significance
NM_024949.6(WWC2):c.295A>T (p.Met99Leu) single nucleotide variant not specified [RCV005773508] Chr4:183208006 [GRCh38]
Chr4:184129159 [GRCh37]
Chr4:4q35.1		 uncertain significance
NM_024949.6(WWC2):c.2789C>T (p.Thr930Ile) single nucleotide variant not specified [RCV004685631] Chr4:183282812 [GRCh38]
Chr4:184203965 [GRCh37]
Chr4:4q35.1		 uncertain significance
NM_024949.6(WWC2):c.610A>G (p.Lys204Glu) single nucleotide variant not specified [RCV004685635] Chr4:183245423 [GRCh38]
Chr4:184166576 [GRCh37]
Chr4:4q35.1		 uncertain significance
NM_024949.6(WWC2):c.612A>T (p.Lys204Asn) single nucleotide variant not specified [RCV004685636] Chr4:183245425 [GRCh38]
Chr4:184166578 [GRCh37]
Chr4:4q35.1		 uncertain significance
NM_024949.6(WWC2):c.2875C>G (p.Pro959Ala) single nucleotide variant not specified [RCV004685640] Chr4:183282898 [GRCh38]
Chr4:184204051 [GRCh37]
Chr4:4q35.1		 uncertain significance
NM_024949.6(WWC2):c.1265A>G (p.Tyr422Cys) single nucleotide variant not specified [RCV005773501] Chr4:183259707 [GRCh38]
Chr4:184180860 [GRCh37]
Chr4:4q35.1		 uncertain significance
NM_024949.6(WWC2):c.2477C>T (p.Ser826Phe) single nucleotide variant not specified [RCV005773505] Chr4:183271156 [GRCh38]
Chr4:184192309 [GRCh37]
Chr4:4q35.1		 uncertain significance
NM_024949.6(WWC2):c.1118G>A (p.Arg373His) single nucleotide variant not specified [RCV005773507] Chr4:183253921 [GRCh38]
Chr4:184175074 [GRCh37]
Chr4:4q35.1		 uncertain significance
NM_024949.6(WWC2):c.2885T>C (p.Val962Ala) single nucleotide variant not specified [RCV005773509] Chr4:183284227 [GRCh38]
Chr4:184205380 [GRCh37]
Chr4:4q35.1		 uncertain significance
NM_024949.6(WWC2):c.143C>G (p.Pro48Arg) single nucleotide variant not specified [RCV005773516] Chr4:183193610 [GRCh38]
Chr4:184114763 [GRCh37]
Chr4:4q35.1		 uncertain significance
NM_024949.6(WWC2):c.2936G>T (p.Arg979Leu) single nucleotide variant not specified [RCV005773517] Chr4:183284278 [GRCh38]
Chr4:184205431 [GRCh37]
Chr4:4q35.1		 uncertain significance
NM_024949.6(WWC2):c.2314G>A (p.Val772Ile) single nucleotide variant not specified [RCV005511737] Chr4:183269077 [GRCh38]
Chr4:184190230 [GRCh37]
Chr4:4q35.1		 uncertain significance
NM_024949.6(WWC2):c.3076A>G (p.Thr1026Ala) single nucleotide variant not specified [RCV005527908] Chr4:183285994 [GRCh38]
Chr4:184207147 [GRCh37]
Chr4:4q35.1		 uncertain significance
NM_001111319.3(CLDN22):c.226G>A (p.Glu76Lys) single nucleotide variant not specified [RCV005806104] Chr4:183319993 [GRCh38]
Chr4:184241146 [GRCh37]
Chr4:4q35.1		 uncertain significance
NM_024949.6(WWC2):c.602+5G>A single nucleotide variant Cervical cancer [RCV005948536] Chr4:183240267 [GRCh38]
Chr4:184161420 [GRCh37]
Chr4:4q35.1		 evidence_only
NM_024949.6(WWC2):c.1819G>A (p.Asp607Asn) single nucleotide variant not specified [RCV006344207] Chr4:183261442 [GRCh38]
Chr4:184182595 [GRCh37]
Chr4:4q35.1		 uncertain significance
NM_024949.6(WWC2):c.1435G>T (p.Asp479Tyr) single nucleotide variant not specified [RCV006344213] Chr4:183261058 [GRCh38]
Chr4:184182211 [GRCh37]
Chr4:4q35.1		 uncertain significance
NM_024949.6(WWC2):c.239A>G (p.Asn80Ser) single nucleotide variant not specified [RCV006344214] Chr4:183193706 [GRCh38]
Chr4:184114859 [GRCh37]
Chr4:4q35.1		 uncertain significance
NM_024949.6(WWC2):c.779G>C (p.Gly260Ala) single nucleotide variant not specified [RCV005511738] Chr4:183248760 [GRCh38]
Chr4:184169913 [GRCh37]
Chr4:4q35.1		 uncertain significance
NM_024949.6(WWC2):c.254T>C (p.Ile85Thr) single nucleotide variant not specified [RCV005511742] Chr4:183207965 [GRCh38]
Chr4:184129118 [GRCh37]
Chr4:4q35.1		 uncertain significance
GRCh37/hg19 4q32.1-35.2(chr4:158961591-190957473)x1 copy number loss not specified [RCV006697274] Chr4:4q32.1-35.2 pathogenic
NM_024949.6(WWC2):c.1201_1206del microsatellite Hepatocellular carcinoma [RCV005873609] Chr4:183259637..183259642 [GRCh38]
Chr4:184180790..184180795 [GRCh37]
Chr4:4q35.1		 evidence_only
NM_024949.6(WWC2):c.*2729T>A single nucleotide variant Acute myeloid leukemia [RCV005948569] Chr4:183318458 [GRCh38]
Chr4:184239611 [GRCh37]
Chr4:4q35.1		 evidence_only
NM_024949.6(WWC2):c.2884-91G>T single nucleotide variant Cervical cancer [RCV005948548] Chr4:183284135 [GRCh38]
Chr4:184205288 [GRCh37]
Chr4:4q35.1		 evidence_only
NM_024949.6(WWC2):c.3048+27C>T single nucleotide variant Gastric cancer [RCV005948549] Chr4:183284417 [GRCh38]
Chr4:184205570 [GRCh37]
Chr4:4q35.1		 evidence_only
NM_024949.6(WWC2):c.1514T>C (p.Ile505Thr) single nucleotide variant not specified [RCV004365174] Chr4:183261137 [GRCh38]
Chr4:184182290 [GRCh37]
Chr4:4q35.1		 uncertain significance
NM_024949.6(WWC2):c.1286+2T>G single nucleotide variant Hepatocellular carcinoma [RCV005948538] Chr4:183259730 [GRCh38]
Chr4:184180883 [GRCh37]
Chr4:4q35.1		 evidence_only
NM_024949.6(WWC2):c.3385-16T>G single nucleotide variant Hepatocellular carcinoma [RCV005948566] Chr4:183312325 [GRCh38]
Chr4:184233478 [GRCh37]
Chr4:4q35.1		 evidence_only
NM_024949.6(WWC2):c.3047G>A (p.Arg1016Lys) single nucleotide variant not specified [RCV005511739] Chr4:183284389 [GRCh38]
Chr4:184205542 [GRCh37]
Chr4:4q35.1		 uncertain significance
NM_024949.6(WWC2):c.3532A>G (p.Thr1178Ala) single nucleotide variant not specified [RCV005527905] Chr4:183315682 [GRCh38]
Chr4:184236835 [GRCh37]
Chr4:4q35.1		 uncertain significance
NM_024949.6(WWC2):c.*3851C>A single nucleotide variant Malignant tumor of urinary bladder [RCV005948570] Chr4:183319580 [GRCh38]
Chr4:184240733 [GRCh37]
Chr4:4q35.1		 evidence_only
NM_024949.6(WWC2):c.2126A>G (p.Asn709Ser) single nucleotide variant not specified [RCV006344209] Chr4:183265870 [GRCh38]
Chr4:184187023 [GRCh37]
Chr4:4q35.1		 uncertain significance
NM_024949.6(WWC2):c.3031A>C (p.Asn1011His) single nucleotide variant not specified [RCV006344210] Chr4:183284373 [GRCh38]
Chr4:184205526 [GRCh37]
Chr4:4q35.1		 uncertain significance
GRCh38/hg38 4q32.1-35.2(chr4:157628420-189863176)x1 copy number loss not provided [RCV006605611] Chr4:4q32.1-35.2 likely pathogenic
NM_024949.6(WWC2):c.1087C>T (p.Pro363Ser) single nucleotide variant not specified [RCV004358500] Chr4:183253890 [GRCh38]
Chr4:184175043 [GRCh37]
Chr4:4q35.1		 uncertain significance
GRCh37/hg19 4q33-35.1(chr4:171476330-184998011)x1 copy number loss not provided [RCV003485442] Chr4:4q33-35.1 likely pathogenic
GRCh37/hg19 4q27-35.2(chr4:123399154-190957473)x3 copy number gain not specified [RCV003986533] Chr4:4q27-35.2 pathogenic
GRCh37/hg19 4q34.1-35.1(chr4:175496275-186495932)x1 copy number loss not specified [RCV003986504] Chr4:4q34.1-35.1 pathogenic
NM_001111319.3(CLDN22):c.563G>A (p.Cys188Tyr) single nucleotide variant not specified [RCV004444336] Chr4:183319656 [GRCh38]
Chr4:184240809 [GRCh37]
Chr4:4q35.1		 uncertain significance
NM_001111319.3(CLDN22):c.320T>C (p.Ile107Thr) single nucleotide variant not specified [RCV004444333] Chr4:183319899 [GRCh38]
Chr4:184241052 [GRCh37]
Chr4:4q35.1		 likely benign
NM_001111319.3(CLDN22):c.542G>T (p.Cys181Phe) single nucleotide variant not specified [RCV004444335] Chr4:183319677 [GRCh38]
Chr4:184240830 [GRCh37]
Chr4:4q35.1		 uncertain significance
NM_001111319.3(CLDN22):c.485T>C (p.Phe162Ser) single nucleotide variant not specified [RCV004444334] Chr4:183319734 [GRCh38]
Chr4:184240887 [GRCh37]
Chr4:4q35.1		 uncertain significance
NM_024949.6(WWC2):c.1021G>A (p.Glu341Lys) single nucleotide variant not specified [RCV004483273] Chr4:183253824 [GRCh38]
Chr4:184174977 [GRCh37]
Chr4:4q35.1		 uncertain significance
NM_024949.6(WWC2):c.1096C>T (p.Arg366Cys) single nucleotide variant not specified [RCV004483274] Chr4:183253899 [GRCh38]
Chr4:184175052 [GRCh37]
Chr4:4q35.1		 uncertain significance
NM_024949.6(WWC2):c.1819G>C (p.Asp607His) single nucleotide variant not specified [RCV004483276] Chr4:183261442 [GRCh38]
Chr4:184182595 [GRCh37]
Chr4:4q35.1		 uncertain significance
NM_024949.6(WWC2):c.1912G>T (p.Val638Leu) single nucleotide variant not specified [RCV004483277] Chr4:183264980 [GRCh38]
Chr4:184186133 [GRCh37]
Chr4:4q35.1		 uncertain significance
NM_024949.6(WWC2):c.2396G>T (p.Cys799Phe) single nucleotide variant not specified [RCV004483278] Chr4:183269159 [GRCh38]
Chr4:184190312 [GRCh37]
Chr4:4q35.1		 uncertain significance
NM_024949.6(WWC2):c.2455C>G (p.Leu819Val) single nucleotide variant not specified [RCV004483279] Chr4:183271134 [GRCh38]
Chr4:184192287 [GRCh37]
Chr4:4q35.1		 uncertain significance
NM_024949.6(WWC2):c.2561T>C (p.Leu854Ser) single nucleotide variant not specified [RCV004483281] Chr4:183271240 [GRCh38]
Chr4:184192393 [GRCh37]
Chr4:4q35.1		 uncertain significance
NM_024949.6(WWC2):c.2585C>G (p.Ala862Gly) single nucleotide variant not specified [RCV004483282] Chr4:183280798 [GRCh38]
Chr4:184201951 [GRCh37]
Chr4:4q35.1		 uncertain significance
NM_024949.6(WWC2):c.2617C>A (p.Gln873Lys) single nucleotide variant not specified [RCV004483283] Chr4:183280830 [GRCh38]
Chr4:184201983 [GRCh37]
Chr4:4q35.1		 uncertain significance
NM_024949.6(WWC2):c.2662C>A (p.Pro888Thr) single nucleotide variant not specified [RCV004483284] Chr4:183280875 [GRCh38]
Chr4:184202028 [GRCh37]
Chr4:4q35.1		 uncertain significance
NM_024949.6(WWC2):c.2917A>G (p.Asn973Asp) single nucleotide variant not specified [RCV004483285] Chr4:183284259 [GRCh38]
Chr4:184205412 [GRCh37]
Chr4:4q35.1		 likely benign
NM_024949.6(WWC2):c.3028C>T (p.Arg1010Trp) single nucleotide variant not specified [RCV004483286] Chr4:183284370 [GRCh38]
Chr4:184205523 [GRCh37]
Chr4:4q35.1		 uncertain significance
NM_024949.6(WWC2):c.3457G>A (p.Val1153Met) single nucleotide variant not specified [RCV004483287] Chr4:183312413 [GRCh38]
Chr4:184233566 [GRCh37]
Chr4:4q35.1		 uncertain significance
NM_024949.6(WWC2):c.937G>A (p.Glu313Lys) single nucleotide variant not specified [RCV004483289] Chr4:183249977 [GRCh38]
Chr4:184171130 [GRCh37]
Chr4:4q35.1		 uncertain significance
NM_024949.6(WWC2):c.997G>A (p.Ala333Thr) single nucleotide variant not specified [RCV004483290] Chr4:183253800 [GRCh38]
Chr4:184174953 [GRCh37]
Chr4:4q35.1		 uncertain significance
NM_024949.6(WWC2):c.3141+186G>T single nucleotide variant Uterine corpus endometrial carcinoma [RCV005948560] Chr4:183286245 [GRCh38]
Chr4:184207398 [GRCh37]
Chr4:4q35.1		 evidence_only
NM_001111319.3(CLDN22):c.550C>A (p.His184Asn) single nucleotide variant not specified [RCV004612898] Chr4:183319669 [GRCh38]
Chr4:184240822 [GRCh37]
Chr4:4q35.1		 likely benign
NM_024949.6(WWC2):c.970A>T (p.Ile324Phe) single nucleotide variant not specified [RCV004685638] Chr4:183253773 [GRCh38]
Chr4:184174926 [GRCh37]
Chr4:4q35.1		 uncertain significance
NM_024949.6(WWC2):c.2927T>C (p.Met976Thr) single nucleotide variant not specified [RCV004685641] Chr4:183284269 [GRCh38]
Chr4:184205422 [GRCh37]
Chr4:4q35.1		 uncertain significance
NM_001111319.3(CLDN22):c.656A>T (p.Lys219Ile) single nucleotide variant not specified [RCV004612899] Chr4:183319563 [GRCh38]
Chr4:184240716 [GRCh37]
Chr4:4q35.1		 uncertain significance
GRCh37/hg19 4q34.3-35.2(chr4:179475329-190957473)x1 copy number loss not provided [RCV004819343] Chr4:4q34.3-35.2 pathogenic
NM_001111319.3(CLDN22):c.431C>T (p.Thr144Met) single nucleotide variant not specified [RCV004900000] Chr4:183319788 [GRCh38]
Chr4:184240941 [GRCh37]
Chr4:4q35.1		 uncertain significance
NM_024949.6(WWC2):c.2891A>G (p.Lys964Arg) single nucleotide variant not specified [RCV004892694] Chr4:183284233 [GRCh38]
Chr4:184205386 [GRCh37]
Chr4:4q35.1		 uncertain significance
NM_024949.6(WWC2):c.1627G>T (p.Val543Leu) single nucleotide variant not specified [RCV004880105] Chr4:183261250 [GRCh38]
Chr4:184182403 [GRCh37]
Chr4:4q35.1		 uncertain significance
GRCh37/hg19 4q32.1-35.2(chr4:161589441-190957473)x1 copy number loss not specified [RCV003986532] Chr4:4q32.1-35.2 pathogenic
NM_001111319.3(CLDN22):c.252G>A (p.Met84Ile) single nucleotide variant not specified [RCV004444332] Chr4:183319967 [GRCh38]
Chr4:184241120 [GRCh37]
Chr4:4q35.1		 uncertain significance
GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3 copy number gain not provided [RCV003885507] Chr4:4p12-q35.2 pathogenic
GRCh37/hg19 4q32.3-35.2(chr4:169060637-191154276)x1 copy number loss not provided [RCV003885510] Chr4:4q32.3-35.2 pathogenic
NM_024949.6(WWC2):c.993T>G (p.Ser331Arg) single nucleotide variant not specified [RCV004685634] Chr4:183253796 [GRCh38]
Chr4:184174949 [GRCh37]
Chr4:4q35.1		 uncertain significance
NM_024949.6(WWC2):c.3121C>T (p.Arg1041Cys) single nucleotide variant not specified [RCV004688799] Chr4:183286039 [GRCh38]
Chr4:184207192 [GRCh37]
Chr4:4q35.1		 uncertain significance
NM_024949.6(WWC2):c.505T>C (p.Ser169Pro) single nucleotide variant not specified [RCV004892695] Chr4:183209008 [GRCh38]
Chr4:184130161 [GRCh37]
Chr4:4q35.1		 uncertain significance
NM_024949.6(WWC2):c.1343C>T (p.Ser448Leu) single nucleotide variant not specified [RCV004892696] Chr4:183260966 [GRCh38]
Chr4:184182119 [GRCh37]
Chr4:4q35.1		 uncertain significance
NM_024949.6(WWC2):c.921G>T (p.Arg307Ser) single nucleotide variant not specified [RCV004892697] Chr4:183249961 [GRCh38]
Chr4:184171114 [GRCh37]
Chr4:4q35.1		 uncertain significance
NM_024949.6(WWC2):c.552G>T (p.Gln184His) single nucleotide variant not specified [RCV004892698] Chr4:183240212 [GRCh38]
Chr4:184161365 [GRCh37]
Chr4:4q35.1		 uncertain significance
NM_024949.6(WWC2):c.2225T>C (p.Val742Ala) single nucleotide variant not specified [RCV004892693] Chr4:183268988 [GRCh38]
Chr4:184190141 [GRCh37]
Chr4:4q35.1		 uncertain significance
NM_024949.6(WWC2):c.2327A>G (p.Gln776Arg) single nucleotide variant not specified [RCV004892692] Chr4:183269090 [GRCh38]
Chr4:184190243 [GRCh37]
Chr4:4q35.1		 uncertain significance
NM_001111319.3(CLDN22):c.512T>A (p.Phe171Tyr) single nucleotide variant not specified [RCV004900001] Chr4:183319707 [GRCh38]
Chr4:184240860 [GRCh37]
Chr4:4q35.1		 uncertain significance
NM_001111319.3(CLDN22):c.307G>A (p.Asp103Asn) single nucleotide variant not specified [RCV004900002] Chr4:183319912 [GRCh38]
Chr4:184241065 [GRCh37]
Chr4:4q35.1		 uncertain significance
NM_001111319.3(CLDN22):c.268C>A (p.Leu90Met) single nucleotide variant not specified [RCV004900003] Chr4:183319951 [GRCh38]
Chr4:184241104 [GRCh37]
Chr4:4q35.1		 uncertain significance
NM_024949.6(WWC2):c.2239A>C (p.Thr747Pro) single nucleotide variant not specified [RCV004880106] Chr4:183269002 [GRCh38]
Chr4:184190155 [GRCh37]
Chr4:4q35.1		 uncertain significance
NM_024949.6(WWC2):c.482C>G (p.Pro161Arg) single nucleotide variant not specified [RCV004880091] Chr4:183208985 [GRCh38]
Chr4:184130138 [GRCh37]
Chr4:4q35.1		 uncertain significance
NM_024949.6(WWC2):c.2993T>G (p.Val998Gly) single nucleotide variant not specified [RCV004880092] Chr4:183284335 [GRCh38]
Chr4:184205488 [GRCh37]
Chr4:4q35.1		 uncertain significance
NM_024949.6(WWC2):c.443G>A (p.Ser148Asn) single nucleotide variant not specified [RCV004880093] Chr4:183208154 [GRCh38]
Chr4:184129307 [GRCh37]
Chr4:4q35.1		 uncertain significance
NM_024949.6(WWC2):c.779G>A (p.Gly260Asp) single nucleotide variant not specified [RCV004880094] Chr4:183248760 [GRCh38]
Chr4:184169913 [GRCh37]
Chr4:4q35.1		 uncertain significance
NM_024949.6(WWC2):c.3445G>C (p.Val1149Leu) single nucleotide variant not specified [RCV004880097] Chr4:183312401 [GRCh38]
Chr4:184233554 [GRCh37]
Chr4:4q35.1		 uncertain significance
NM_024949.6(WWC2):c.2456T>C (p.Leu819Pro) single nucleotide variant not specified [RCV004880098] Chr4:183271135 [GRCh38]
Chr4:184192288 [GRCh37]
Chr4:4q35.1		 uncertain significance
NM_024949.6(WWC2):c.2914G>A (p.Ala972Thr) single nucleotide variant not specified [RCV004880099] Chr4:183284256 [GRCh38]
Chr4:184205409 [GRCh37]
Chr4:4q35.1		 uncertain significance
NM_024949.6(WWC2):c.1967C>T (p.Thr656Ile) single nucleotide variant not specified [RCV004880100] Chr4:183265035 [GRCh38]
Chr4:184186188 [GRCh37]
Chr4:4q35.1		 uncertain significance
NM_024949.6(WWC2):c.124C>G (p.Arg42Gly) single nucleotide variant not specified [RCV004880101] Chr4:183099615 [GRCh38]
Chr4:184020768 [GRCh37]
Chr4:4q35.1		 uncertain significance
NM_024949.6(WWC2):c.1507A>G (p.Thr503Ala) single nucleotide variant not specified [RCV004880103] Chr4:183261130 [GRCh38]
Chr4:184182283 [GRCh37]
Chr4:4q35.1		 uncertain significance
NM_024949.6(WWC2):c.2017G>A (p.Val673Ile) single nucleotide variant not specified [RCV004880104] Chr4:183265085 [GRCh38]
Chr4:184186238 [GRCh37]
Chr4:4q35.1		 uncertain significance
NM_001111319.3(CLDN22):c.647C>T (p.Thr216Ile) single nucleotide variant not specified [RCV005321810] Chr4:183319572 [GRCh38]
Chr4:184240725 [GRCh37]
Chr4:4q35.1		 uncertain significance
NM_024949.6(WWC2):c.2888A>G (p.Asp963Gly) single nucleotide variant not specified [RCV005311259] Chr4:183284230 [GRCh38]
Chr4:184205383 [GRCh37]
Chr4:4q35.1		 uncertain significance
NM_024949.6(WWC2):c.2895G>T (p.Glu965Asp) single nucleotide variant not specified [RCV005311258] Chr4:183284237 [GRCh38]
Chr4:184205390 [GRCh37]
Chr4:4q35.1		 uncertain significance
NM_001111319.3(CLDN22):c.200T>C (p.Phe67Ser) single nucleotide variant not specified [RCV005321809] Chr4:183320019 [GRCh38]
Chr4:184241172 [GRCh37]
Chr4:4q35.1		 uncertain significance
NM_024949.6(WWC2):c.2208A>G (p.Val736=) single nucleotide variant not specified [RCV005304762] Chr4:183268971 [GRCh38]
Chr4:184190124 [GRCh37]
Chr4:4q35.1		 likely benign
NM_024949.6(WWC2):c.830T>C (p.Leu277Pro) single nucleotide variant not specified [RCV005304763] Chr4:183248811 [GRCh38]
Chr4:184169964 [GRCh37]
Chr4:4q35.1		 uncertain significance
NM_024949.6(WWC2):c.954-4_954-3del deletion Malignant tumor of esophagus [RCV005873608] Chr4:183253744..183253745 [GRCh38]
Chr4:184174897..184174898 [GRCh37]
Chr4:4q35.1		 evidence_only
NM_024949.6(WWC2):c.3469C>T (p.Arg1157Trp) single nucleotide variant not specified [RCV005527909] Chr4:183312425 [GRCh38]
Chr4:184233578 [GRCh37]
Chr4:4q35.1		 uncertain significance
NM_001111319.3(CLDN22):c.590G>A (p.Gly197Asp) single nucleotide variant not specified [RCV006391727] Chr4:183319629 [GRCh38]
Chr4:184240782 [GRCh37]
Chr4:4q35.1		 uncertain significance
NM_001111319.3(CLDN22):c.190T>G (p.Cys64Gly) single nucleotide variant not specified [RCV005539640] Chr4:183320029 [GRCh38]
Chr4:184241182 [GRCh37]
Chr4:4q35.1		 uncertain significance
NM_024949.6(WWC2):c.2141G>A (p.Ser714Asn) single nucleotide variant not specified [RCV005527904] Chr4:183265885 [GRCh38]
Chr4:184187038 [GRCh37]
Chr4:4q35.1		 uncertain significance
NM_024949.6(WWC2):c.467G>C (p.Ser156Thr) single nucleotide variant not specified [RCV005527907] Chr4:183208970 [GRCh38]
Chr4:184130123 [GRCh37]
Chr4:4q35.1		 uncertain significance
NM_024949.6(WWC2):c.1114G>C (p.Glu372Gln) single nucleotide variant not specified [RCV005527906] Chr4:183253917 [GRCh38]
Chr4:184175070 [GRCh37]
Chr4:4q35.1		 uncertain significance
NM_024949.6(WWC2):c.2207+3A>G single nucleotide variant Melanoma [RCV005948543] Chr4:183265954 [GRCh38]
Chr4:184187107 [GRCh37]
Chr4:4q35.1		 evidence_only
NM_024949.6(WWC2):c.2685-1G>T single nucleotide variant Malignant tumor of esophagus [RCV005948547] Chr4:183282707 [GRCh38]
Chr4:184203860 [GRCh37]
Chr4:4q35.1		 evidence_only
NM_024949.6(WWC2):c.*4533G>A single nucleotide variant Colorectal cancer [RCV005948571] Chr4:183320262 [GRCh38]
Chr4:184241415 [GRCh37]
Chr4:4q35.1		 evidence_only
GRCh38/hg38 4q34.3-35.2(chr4:177849294-190042611)x1 copy number loss See cases [RCV006699110] Chr4:4q34.3-35.2 pathogenic
NM_024949.6(WWC2):c.132-200A>G single nucleotide variant Sarcoma [RCV005948532] Chr4:183193399 [GRCh38]
Chr4:184114552 [GRCh37]
Chr4:4q35.1		 evidence_only
NM_024949.6(WWC2):c.1880C>A (p.Ala627Asp) single nucleotide variant Thyroid cancer, nonmedullary, 1 [RCV005948541] Chr4:183261503 [GRCh38]
Chr4:184182656 [GRCh37]
Chr4:4q35.1		 evidence_only
NM_024949.6(WWC2):c.131G>A (p.Arg44Lys) single nucleotide variant Sarcoma [RCV005948531] Chr4:183099622 [GRCh38]
Chr4:184020775 [GRCh37]
Chr4:4q35.1		 evidence_only
NM_024949.6(WWC2):c.132-1G>T single nucleotide variant Melanoma [RCV005948533] Chr4:183193598 [GRCh38]
Chr4:184114751 [GRCh37]
Chr4:4q35.1		 evidence_only
NM_024949.6(WWC2):c.3512+2T>A single nucleotide variant Thyroid cancer, nonmedullary, 1 [RCV005948567] Chr4:183312470 [GRCh38]
Chr4:184233623 [GRCh37]
Chr4:4q35.1		 evidence_only
NM_024949.6(WWC2):c.*90G>T single nucleotide variant Ovarian serous cystadenocarcinoma [RCV005948568] Chr4:183315819 [GRCh38]
Chr4:184236972 [GRCh37]
Chr4:4q35.1		 evidence_only
NM_024949.6(WWC2):c.446-9C>A single nucleotide variant Ovarian serous cystadenocarcinoma [RCV005948535] Chr4:183208940 [GRCh38]
Chr4:184130093 [GRCh37]
Chr4:4q35.1		 evidence_only
NM_024949.6(WWC2):c.633C>T (p.Ser211=) single nucleotide variant Colorectal cancer [RCV005948537] Chr4:183245446 [GRCh38]
Chr4:184166599 [GRCh37]
Chr4:4q35.1		 evidence_only
NM_024949.6(WWC2):c.2208-282G>A single nucleotide variant Malignant tumor of esophagus [RCV005948544] Chr4:183268689 [GRCh38]
Chr4:184189842 [GRCh37]
Chr4:4q35.1		 evidence_only
NM_024949.6(WWC2):c.19A>G (p.Ser7Gly) single nucleotide variant not specified [RCV005311260] Chr4:183099510 [GRCh38]
Chr4:184020663 [GRCh37]
Chr4:4q35.1		 uncertain significance
NM_024949.6(WWC2):c.2033T>A (p.Val678Glu) single nucleotide variant not specified [RCV005304764] Chr4:183265101 [GRCh38]
Chr4:184186254 [GRCh37]
Chr4:4q35.1		 uncertain significance
NM_024949.6(WWC2):c.3386C>T (p.Ala1129Val) single nucleotide variant not specified [RCV005304765] Chr4:183312342 [GRCh38]
Chr4:184233495 [GRCh37]
Chr4:4q35.1		 uncertain significance
NM_001111319.3(CLDN22):c.262A>G (p.Asn88Asp) single nucleotide variant not specified [RCV006391728] Chr4:183319957 [GRCh38]
Chr4:184241110 [GRCh37]
Chr4:4q35.1		 uncertain significance
NM_024949.6(WWC2):c.1663T>G (p.Leu555Val) single nucleotide variant not specified [RCV005511746] Chr4:183261286 [GRCh38]
Chr4:184182439 [GRCh37]
Chr4:4q35.1		 uncertain significance
NM_024949.6(WWC2):c.241+6T>A single nucleotide variant Cholangiocarcinoma [RCV005948534] Chr4:183193714 [GRCh38]
Chr4:184114867 [GRCh37]
Chr4:4q35.1		 evidence_only
NM_024949.6(WWC2):c.3266C>T (p.Ala1089Val) single nucleotide variant Thyroid cancer, nonmedullary, 1 [RCV005948563] Chr4:183289517 [GRCh38]
Chr4:184210670 [GRCh37]
Chr4:4q35.1		 evidence_only
GRCh38/hg38 4q28.3-35.2(chr4:136063183-190214555)x3 copy number gain See cases [RCV006699115] Chr4:4q28.3-35.2 pathogenic
GRCh37/hg19 4q32.3-35.1(chr4:169723708-185021988)x1 copy number loss not specified [RCV006697210] Chr4:4q32.3-35.1 pathogenic
miRNA Target Status (No longer updated)

Predicted Target Of
Summary Value
Count of predictions:7423
Count of miRNA genes:1297
Interacting mature miRNAs:1687
Transcripts:ENST00000378925, ENST00000403733, ENST00000427431, ENST00000438543, ENST00000448232, ENST00000504005, ENST00000506225, ENST00000508614, ENST00000508747, ENST00000513834, ENST00000515284
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
628928894GWAS2837123_Hbody height QTL GWAS2837123 (human)2e-18body height4183289877183289878Human
628620659GWAS2528888_Hbody height QTL GWAS2528888 (human)3e-35body height4183275101183275102Human
628913271GWAS2821500_Haspartate aminotransferase measurement QTL GWAS2821500 (human)9e-13blood aspartate transaminase amount (VT:0000203)blood aspartate aminotransferase activity level (CMO:0000580)4183296203183296204Human
628912880GWAS2821109_Hbody height QTL GWAS2821109 (human)4e-16body height4183270884183270885Human
628912881GWAS2821110_Hbody height QTL GWAS2821110 (human)1e-09body height4183305034183305035Human
628927347GWAS2835576_Hbody height QTL GWAS2835576 (human)3e-21body height4183289877183289878Human
628539494GWAS2447723_Hbody height QTL GWAS2447723 (human)4e-28body height4183294522183294523Human
628501095GWAS2409324_Happendicular lean mass QTL GWAS2409324 (human)1e-15body lean mass (VT:0010483)4183275101183275102Human
628539492GWAS2447721_Hbody height QTL GWAS2447721 (human)2e-13body height4183262470183262471Human
628539493GWAS2447722_Hbody height QTL GWAS2447722 (human)3e-09body height4183268799183268800Human
628614753GWAS2522982_Haspartate aminotransferase measurement QTL GWAS2522982 (human)5e-14blood aspartate transaminase amount (VT:0000203)blood aspartate aminotransferase activity level (CMO:0000580)4183292160183292161Human
628683746GWAS2591975_Hbody height QTL GWAS2591975 (human)3e-34body height4183275101183275102Human
628798688GWAS2706917_HCOVID-19 QTL GWAS2706917 (human)0.00001COVID-194183280029183280030Human
598087737GWAS1807036_Hbody height QTL GWAS1807036 (human)5e-09body height4183270703183270704Human
628970073GWAS2878302_Herythrocyte count QTL GWAS2878302 (human)8e-13erythrocyte countred blood cell count (CMO:0000025)4183292802183292803Human
598053388GWAS1772687_Hbody height QTL GWAS1772687 (human)4e-21body height4183289877183289878Human
406920426GWAS569402_Hheel bone mineral density QTL GWAS569402 (human)1e-11bone mineral mass (VT:0005007)bone mineral density (CMO:0001226)4183275101183275102Human
628627541GWAS2535770_HFEV/FVC ratio QTL GWAS2535770 (human)3e-09lung capacity (VT:0001942)forced expiratory volume to forced vital capacity ratio (CMO:0000241)4183266158183266159Human
628826954GWAS2735183_Hbody height QTL GWAS2735183 (human)2e-28body height4183289877183289878Human
628920907GWAS2829136_Hbody height QTL GWAS2829136 (human)5e-21body height4183285143183285144Human
597104815GWAS1200889_Haspartate aminotransferase measurement QTL GWAS1200889 (human)1e-08blood aspartate transaminase amount (VT:0000203)blood aspartate aminotransferase activity level (CMO:0000580)4183283075183283076Human
628820419GWAS2728648_Hserum gamma-glutamyl transferase measurement QTL GWAS2728648 (human)8e-10blood gamma-glutamyltransferase amount (VT:0010607)serum gamma-glutamyltransferase activity level (CMO:0002241)4183288458183288459Human
645241804GWAS3135085_Hbody shape measurement QTL GWAS3135085 (human)7e-19body conformation trait (VT:1000000)4183306277183306278Human
628537011GWAS2445240_Hbody height QTL GWAS2445240 (human)8e-24body height4183275101183275102Human
628926010GWAS2834239_Hbody height QTL GWAS2834239 (human)2e-12body height4183269382183269383Human
628744511GWAS2652740_Hhealth trait QTL GWAS2652740 (human)3e-17health trait4183275101183275102Human
628474553GWAS2382782_Hheel bone mineral density QTL GWAS2382782 (human)8e-12bone mineral mass (VT:0005007)bone mineral density (CMO:0001226)4183291067183291068Human
2292972PRSTS190_HProstate tumor susceptibility QTL 190 (human)4.130.0018Prostate tumor susceptibility4175186665190214555Human
628945325GWAS2853554_Hbody height QTL GWAS2853554 (human)2e-10body height4183269382183269383Human
628828840GWAS2737069_Hbody height QTL GWAS2737069 (human)2e-24body height4183276972183276973Human
736610611GWAS3146505_Hhematological measurement QTL GWAS3146505 (human)4e-13hematopoietic system morphology trait (VT:0010250)blood measurement (CMO:0000035)4183285143183285144Human
597982451GWAS1701750_Hbody height QTL GWAS1701750 (human)4e-08body height4183294522183294523Human
597989631GWAS1708930_Hbody height QTL GWAS1708930 (human)0.0000005body height4183304142183304143Human
632525650GWAS3025980_HFEV/FVC ratio QTL GWAS3025980 (human)1e-09lung capacity (VT:0001942)forced expiratory volume to forced vital capacity ratio (CMO:0000241)4183269382183269383Human
645240080GWAS3133361_Hbody height QTL GWAS3133361 (human)1e-09body height4183294879183294880Human
645240083GWAS3133364_Hbody height QTL GWAS3133364 (human)7e-11body height4183294879183294880Human
597212145GWAS1308219_Htrait in response to ethanol QTL GWAS1308219 (human)0.000003trait in response to ethanol4183250034183250035Human
628670355GWAS2578584_Hlean body mass QTL GWAS2578584 (human)7e-10body lean mass (VT:0010483)total body lean mass (CMO:0003950)4183294522183294523Human
628998289GWAS2906518_Hbody height QTL GWAS2906518 (human)2e-85body height4183298729183298730Human
628998288GWAS2906517_Hbody height QTL GWAS2906517 (human)3e-242body height4183294522183294523Human
628750742GWAS2658971_Hsize QTL GWAS2658971 (human)4e-13size4183289877183289878Human
628998290GWAS2906519_Hbody height QTL GWAS2906519 (human)1e-234body height4183315715183315716Human
598015572GWAS1734871_Hred blood cell density QTL GWAS1734871 (human)5e-10red blood cell density4183279785183279786Human
628860297GWAS2768526_Hbody surface area QTL GWAS2768526 (human)1e-09body surface area4183279785183279786Human
628764937GWAS2673166_Hserum gamma-glutamyl transferase measurement QTL GWAS2673166 (human)2e-15blood gamma-glutamyltransferase amount (VT:0010607)serum gamma-glutamyltransferase activity level (CMO:0002241)4183277114183277115Human
628943375GWAS2851604_Hserum gamma-glutamyl transferase measurement QTL GWAS2851604 (human)2e-19blood gamma-glutamyltransferase amount (VT:0010607)serum gamma-glutamyltransferase activity level (CMO:0002241)4183277114183277115Human
628950665GWAS2858894_Hbody height QTL GWAS2858894 (human)6e-47body height4183275101183275102Human
628739203GWAS2647432_Haspartate aminotransferase measurement QTL GWAS2647432 (human)2e-09blood aspartate transaminase amount (VT:0000203)blood aspartate aminotransferase activity level (CMO:0000580)4183270653183270654Human
406934586GWAS583562_Hheel bone mineral density QTL GWAS583562 (human)2e-10bone mineral mass (VT:0005007)bone mineral density (CMO:0001226)4183289877183289878Human
628928768GWAS2836997_Hbody height QTL GWAS2836997 (human)7e-20body height4183289877183289878Human

Markers in Region
SHGC-50189  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374184,238,135 - 184,238,319UniSTSGRCh37
Build 364184,475,129 - 184,475,313RGDNCBI36
Celera4181,572,081 - 181,572,265RGD
Cytogenetic Map4q35.1UniSTS
HuRef4179,998,470 - 179,998,654UniSTS
TNG Radiation Hybrid Map4108552.0UniSTS
SHGC-24797  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374184,067,338 - 184,067,487UniSTSGRCh37
Build 364184,304,332 - 184,304,481RGDNCBI36
Celera4181,401,359 - 181,401,508RGD
Cytogenetic Map4q35.1UniSTS
HuRef4179,827,780 - 179,827,929UniSTS
TNG Radiation Hybrid Map4108732.0UniSTS
Stanford-G3 RH Map49684.0UniSTS
GeneMap99-GB4 RH Map4678.18UniSTS
Whitehead-RH Map4741.1UniSTS
NCBI RH Map41750.6UniSTS
GeneMap99-G3 RH Map49609.0UniSTS
SHGC-25154  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374184,061,276 - 184,061,381UniSTSGRCh37
Build 364184,298,270 - 184,298,375RGDNCBI36
Celera4181,395,297 - 181,395,402RGD
Cytogenetic Map4q35.1UniSTS
HuRef4179,821,718 - 179,821,823UniSTS
TNG Radiation Hybrid Map4108467.0UniSTS
RH75012  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374184,179,860 - 184,180,065UniSTSGRCh37
Build 364184,416,854 - 184,417,059RGDNCBI36
Celera4181,513,804 - 181,514,009RGD
Cytogenetic Map4q35.1UniSTS
HuRef4179,940,197 - 179,940,402UniSTS
SHGC-67248  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374184,183,202 - 184,183,450UniSTSGRCh37
Build 364184,420,196 - 184,420,444RGDNCBI36
Celera4181,517,146 - 181,517,394RGD
Cytogenetic Map4q35.1UniSTS
HuRef4179,943,539 - 179,943,787UniSTS
TNG Radiation Hybrid Map4108536.0UniSTS
RH99022  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374184,018,933 - 184,019,079UniSTSGRCh37
Build 364184,255,927 - 184,256,073RGDNCBI36
Celera4181,352,944 - 181,353,090RGD
Cytogenetic Map4q35.1UniSTS
HuRef4179,779,362 - 179,779,508UniSTS
GeneMap99-GB4 RH Map4678.23UniSTS
RH122363  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374184,166,991 - 184,167,307UniSTSGRCh37
Build 364184,403,985 - 184,404,301RGDNCBI36
Celera4181,500,937 - 181,501,253RGD
Cytogenetic Map4q35.1UniSTS
HuRef4179,927,330 - 179,927,646UniSTS
SHGC-110403  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374184,228,248 - 184,228,527UniSTSGRCh37
Build 364184,465,242 - 184,465,521RGDNCBI36
Celera4181,562,193 - 181,562,472RGD
Cytogenetic Map4q35.1UniSTS
HuRef4179,988,582 - 179,988,861UniSTS
TNG Radiation Hybrid Map4108548.0UniSTS
SHGC-148320  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374184,161,059 - 184,161,380UniSTSGRCh37
Build 364184,398,053 - 184,398,374RGDNCBI36
Celera4181,495,007 - 181,495,328RGD
Cytogenetic Map4q35.1UniSTS
HuRef4179,921,405 - 179,921,726UniSTS
TNG Radiation Hybrid Map4108532.0UniSTS
D4S2865  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374184,067,430 - 184,067,536UniSTSGRCh37
Build 364184,304,424 - 184,304,530RGDNCBI36
Celera4181,401,451 - 181,401,557RGD
Cytogenetic Map4q35.1UniSTS
HuRef4179,827,872 - 179,827,978UniSTS
Whitehead-RH Map4741.1UniSTS
Whitehead-YAC Contig Map4 UniSTS
NCBI RH Map41765.6UniSTS
G16725  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374184,132,752 - 184,132,867UniSTSGRCh37
Build 364184,369,746 - 184,369,861RGDNCBI36
Celera4181,466,700 - 181,466,815RGD
Cytogenetic Map4q35.1UniSTS
HuRef4179,893,099 - 179,893,214UniSTS
G33625  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374184,067,301 - 184,067,465UniSTSGRCh37
Build 364184,304,295 - 184,304,459RGDNCBI36
Celera4181,401,322 - 181,401,486RGD
Cytogenetic Map4q35.1UniSTS
HuRef4179,827,743 - 179,827,907UniSTS
BOMB_4459  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374184,237,625 - 184,238,438UniSTSGRCh37
Build 364184,474,619 - 184,475,432RGDNCBI36
Celera4181,571,571 - 181,572,384RGD
HuRef4179,997,960 - 179,998,774UniSTS
SHGC-59862  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374184,141,414 - 184,141,536UniSTSGRCh37
Build 364184,378,408 - 184,378,530RGDNCBI36
Celera4181,475,362 - 181,475,484RGD
Cytogenetic Map4q35.1UniSTS
HuRef4179,901,761 - 179,901,883UniSTS
GeneMap99-GB4 RH Map4678.18UniSTS
SHGC-59814  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374184,067,253 - 184,067,385UniSTSGRCh37
Build 364184,304,247 - 184,304,379RGDNCBI36
Celera4181,401,274 - 181,401,406RGD
Cytogenetic Map4q35.1UniSTS
HuRef4179,827,695 - 179,827,827UniSTS
GeneMap99-GB4 RH Map4678.23UniSTS
RH36596  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374184,239,611 - 184,239,802UniSTSGRCh37
Build 364184,476,605 - 184,476,796RGDNCBI36
Celera4181,573,557 - 181,573,749RGD
Cytogenetic Map4q35.1UniSTS
HuRef4179,999,947 - 180,000,139UniSTS
GeneMap99-GB4 RH Map4678.23UniSTS
SHGC-59360  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374184,239,513 - 184,239,637UniSTSGRCh37
Build 364184,476,507 - 184,476,631RGDNCBI36
Celera4181,573,459 - 181,573,583RGD
Cytogenetic Map4q35.1UniSTS
HuRef4179,999,849 - 179,999,973UniSTS
GeneMap99-GB4 RH Map4678.18UniSTS
Whitehead-RH Map4741.1UniSTS
NCBI RH Map41750.6UniSTS
SHGC-59361  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374184,182,267 - 184,182,416UniSTSGRCh37
Build 364184,419,261 - 184,419,410RGDNCBI36
Celera4181,516,211 - 181,516,360RGD
Cytogenetic Map4q35.1UniSTS
HuRef4179,942,604 - 179,942,753UniSTS
GeneMap99-GB4 RH Map4678.23UniSTS
Whitehead-RH Map4742.1UniSTS
SHGC-50362  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374184,141,315 - 184,141,634UniSTSGRCh37
Build 364184,378,309 - 184,378,628RGDNCBI36
Celera4181,475,263 - 181,475,582RGD
Cytogenetic Map4q35.1UniSTS
HuRef4179,901,662 - 179,901,981UniSTS
TNG Radiation Hybrid Map4108497.0UniSTS
D4S3306  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374184,238,120 - 184,238,249UniSTSGRCh37
Build 364184,475,114 - 184,475,243RGDNCBI36
Celera4181,572,066 - 181,572,195RGD
Cytogenetic Map4q35.1UniSTS
HuRef4179,998,455 - 179,998,584UniSTS
SHGC-35220  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374184,141,527 - 184,141,676UniSTSGRCh37
Build 364184,378,521 - 184,378,670RGDNCBI36
Celera4181,475,475 - 181,475,624RGD
Cytogenetic Map4q35.1UniSTS
HuRef4179,901,874 - 179,902,023UniSTS
GeneMap99-G3 RH Map49935.0UniSTS


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 2432 2788 2238 4974 1725 2348 6 624 1726 465 2270 7092 6262 51 3734 1 852 1744 1613 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_051586 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001410864 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_024949 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024454225 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047416198 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047416199 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054350888 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054350889 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054350890 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC019193 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC093844 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC099397 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ566366 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK025682 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK074260 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK091401 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK126057 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK127061 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK225323 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL832424 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC017957 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC053873 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC107683 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM046889 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX647378 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX647704 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471056 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068274 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DN999977 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000403733   ⟹   ENSP00000384222
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4183,099,257 - 183,320,777 (+)Ensembl
Ensembl Acc Id: ENST00000427431   ⟹   ENSP00000393342
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4183,193,615 - 183,318,750 (+)Ensembl
Ensembl Acc Id: ENST00000438543   ⟹   ENSP00000413521
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4183,203,516 - 183,315,898 (+)Ensembl
Ensembl Acc Id: ENST00000448232   ⟹   ENSP00000398577
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4183,099,492 - 183,318,434 (+)Ensembl
Ensembl Acc Id: ENST00000504005   ⟹   ENSP00000427569
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4183,208,979 - 183,320,777 (+)Ensembl
Ensembl Acc Id: ENST00000506225
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4183,265,869 - 183,270,038 (+)Ensembl
Ensembl Acc Id: ENST00000508614   ⟹   ENSP00000423238
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4183,099,339 - 183,245,545 (+)Ensembl
Ensembl Acc Id: ENST00000508747   ⟹   ENSP00000420835
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4183,282,607 - 183,320,777 (+)Ensembl
Ensembl Acc Id: ENST00000513834   ⟹   ENSP00000425054
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4183,099,492 - 183,317,184 (+)Ensembl
Ensembl Acc Id: ENST00000515284
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4183,271,212 - 183,281,386 (+)Ensembl
Ensembl Acc Id: ENST00000908018   ⟹   ENSP00000578077
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4183,099,126 - 183,320,777 (+)Ensembl
Ensembl Acc Id: ENST00000908019   ⟹   ENSP00000578078
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4183,099,126 - 183,320,777 (+)Ensembl
Ensembl Acc Id: ENST00000908020   ⟹   ENSP00000578079
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4183,099,126 - 183,320,777 (+)Ensembl
Ensembl Acc Id: ENST00000937081   ⟹   ENSP00000607140
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4183,099,126 - 183,320,777 (+)Ensembl
Ensembl Acc Id: ENST00000937082   ⟹   ENSP00000607141
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4183,099,126 - 183,320,777 (+)Ensembl
Ensembl Acc Id: ENST00000937083   ⟹   ENSP00000607142
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4183,099,126 - 183,320,777 (+)Ensembl
Ensembl Acc Id: ENST00000937084   ⟹   ENSP00000607143
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4183,099,126 - 183,320,777 (+)Ensembl
Ensembl Acc Id: ENST00000937085   ⟹   ENSP00000607144
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4183,099,126 - 183,320,777 (+)Ensembl
Ensembl Acc Id: ENST00000962605   ⟹   ENSP00000632664
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4183,099,126 - 183,320,777 (+)Ensembl
Ensembl Acc Id: ENST00000962606   ⟹   ENSP00000632665
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4183,099,126 - 183,320,777 (+)Ensembl
Ensembl Acc Id: ENST00000989754   ⟹   ENSP00000659571
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4183,099,145 - 183,317,184 (+)Ensembl
Ensembl Acc Id: ENST00000989755   ⟹   ENSP00000659572
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4183,099,257 - 183,317,114 (+)Ensembl
Ensembl Acc Id: ENST00001012152   ⟹   ENSP00000681969
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4183,099,120 - 183,318,302 (+)Ensembl
Ensembl Acc Id: ENST00001012153   ⟹   ENSP00000681970
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4183,099,140 - 183,317,159 (+)Ensembl
Ensembl Acc Id: ENST00001012154   ⟹   ENSP00000681971
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4183,099,126 - 183,316,361 (+)Ensembl
Ensembl Acc Id: ENST00001074011   ⟹   ENSP00000743817
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4183,099,139 - 183,318,516 (+)Ensembl
Ensembl Acc Id: ENST00001074012   ⟹   ENSP00000743818
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4183,099,168 - 183,316,384 (+)Ensembl
Ensembl Acc Id: ENST00001106452   ⟹   ENSP00000776257
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4183,099,126 - 183,245,225 (+)Ensembl
Ensembl Acc Id: ENST00001113580   ⟹   ENSP00000783385
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4183,099,126 - 183,262,348 (+)Ensembl
Ensembl Acc Id: ENST00001137461   ⟹   ENSP00000812226
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4183,099,126 - 183,320,777 (+)Ensembl
RefSeq Acc Id: NM_001410864   ⟹   NP_001397793
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384183,099,257 - 183,320,777 (+)NCBI
T2T-CHM13v2.04186,442,799 - 186,664,233 (+)NCBI
RefSeq Acc Id: NM_024949   ⟹   NP_079225
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384183,099,257 - 183,320,777 (+)NCBI
GRCh374184,020,463 - 184,241,930 (+)RGD
Build 364184,257,457 - 184,478,924 (+)NCBI Archive
Celera4181,354,474 - 181,575,877 (+)RGD
HuRef4179,780,892 - 180,002,267 (+)RGD
CHM1_14183,996,866 - 184,218,376 (+)NCBI
T2T-CHM13v2.04186,442,799 - 186,664,233 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024454225   ⟹   XP_024309993
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384183,099,257 - 183,320,777 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047416198   ⟹   XP_047272154
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384183,099,257 - 183,320,777 (+)NCBI
RefSeq Acc Id: XM_047416199   ⟹   XP_047272155
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384183,099,257 - 183,271,161 (+)NCBI
RefSeq Acc Id: XM_054350888   ⟹   XP_054206863
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.04186,442,799 - 186,664,233 (+)NCBI
RefSeq Acc Id: XM_054350889   ⟹   XP_054206864
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.04186,442,799 - 186,664,233 (+)NCBI
RefSeq Acc Id: XM_054350890   ⟹   XP_054206865
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.04186,442,799 - 186,614,614 (+)NCBI
RefSeq Acc Id: NP_079225   ⟸   NM_024949
- Peptide Label: isoform 2
- UniProtKB: Q8TEB8 (UniProtKB/Swiss-Prot),   Q7Z620 (UniProtKB/Swiss-Prot),   Q6ZU09 (UniProtKB/Swiss-Prot),   Q6ZSY9 (UniProtKB/Swiss-Prot),   Q6AWB8 (UniProtKB/Swiss-Prot),   Q69YQ1 (UniProtKB/Swiss-Prot),   Q32Q84 (UniProtKB/Swiss-Prot),   Q9H6P0 (UniProtKB/Swiss-Prot),   Q6AWC2 (UniProtKB/Swiss-Prot),   A0ACI8TWT5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_024309993   ⟸   XM_024454225
- Peptide Label: isoform X1
- UniProtKB: A0ACI8V9Y9 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000413521   ⟸   ENST00000438543
Ensembl Acc Id: ENSP00000427569   ⟸   ENST00000504005
Ensembl Acc Id: ENSP00000393342   ⟸   ENST00000427431
Ensembl Acc Id: ENSP00000420835   ⟸   ENST00000508747
Ensembl Acc Id: ENSP00000423238   ⟸   ENST00000508614
Ensembl Acc Id: ENSP00000384222   ⟸   ENST00000403733
Ensembl Acc Id: ENSP00000398577   ⟸   ENST00000448232
Ensembl Acc Id: ENSP00000425054   ⟸   ENST00000513834
RefSeq Acc Id: XP_047272154   ⟸   XM_047416198
- Peptide Label: isoform X2
- UniProtKB: A0ACI8TWT5 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047272155   ⟸   XM_047416199
- Peptide Label: isoform X3
RefSeq Acc Id: NP_001397793   ⟸   NM_001410864
- Peptide Label: isoform 1
- UniProtKB: A0ACI8V9Y9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054206863   ⟸   XM_054350888
- Peptide Label: isoform X1
- UniProtKB: A0ACI8V9Y9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054206864   ⟸   XM_054350889
- Peptide Label: isoform X2
- UniProtKB: A0ACI8TWT5 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054206865   ⟸   XM_054350890
- Peptide Label: isoform X3
Ensembl Acc Id: ENSP00000607142   ⟸   ENST00000937083
Ensembl Acc Id: ENSP00000578078   ⟸   ENST00000908019
Ensembl Acc Id: ENSP00000607140   ⟸   ENST00000937081
Ensembl Acc Id: ENSP00000632664   ⟸   ENST00000962605
Ensembl Acc Id: ENSP00000632665   ⟸   ENST00000962606
Ensembl Acc Id: ENSP00000578077   ⟸   ENST00000908018
Ensembl Acc Id: ENSP00000578079   ⟸   ENST00000908020
Ensembl Acc Id: ENSP00000607143   ⟸   ENST00000937084
Ensembl Acc Id: ENSP00000607144   ⟸   ENST00000937085
Ensembl Acc Id: ENSP00000607141   ⟸   ENST00000937082
Ensembl Acc Id: ENSP00000743817   ⟸   ENST00001074011
Ensembl Acc Id: ENSP00000659572   ⟸   ENST00000989755
Ensembl Acc Id: ENSP00000681969   ⟸   ENST00001012152
Ensembl Acc Id: ENSP00000659571   ⟸   ENST00000989754
Ensembl Acc Id: ENSP00000681971   ⟸   ENST00001012154
Ensembl Acc Id: ENSP00000812226   ⟸   ENST00001137461
Ensembl Acc Id: ENSP00000783385   ⟸   ENST00001113580
Ensembl Acc Id: ENSP00000776257   ⟸   ENST00001106452
Ensembl Acc Id: ENSP00000743818   ⟸   ENST00001074012
Ensembl Acc Id: ENSP00000681970   ⟸   ENST00001012153
Protein Domains
C2   WW

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q6AWC2-F1-model_v2 AlphaFold Q6AWC2 1-1192 view protein structure

Promoters
RGD ID:6868982
Promoter ID:EPDNEW_H7656
Type:initiation region
Name:WWC2_1
Description:WW and C2 domain containing 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh384183,282,534 - 183,282,594EPDNEW
RGD ID:6802778
Promoter ID:HG_KWN:49540
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   NB4
Transcripts:ENST00000378925,   ENST00000403733
Position:
Human AssemblyChrPosition (strand)Source
Build 364184,256,516 - 184,257,377 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:24148 AgrOrtholog
COSMIC WWC2 COSMIC
Ensembl Genes ENSG00000151718 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000403733 ENTREZGENE
  ENST00000403733.8 UniProtKB/Swiss-Prot
  ENST00000438543 ENTREZGENE
  ENST00000438543.5 UniProtKB/Swiss-Prot
  ENST00000448232 ENTREZGENE
  ENST00000448232.6 UniProtKB/Swiss-Prot
  ENST00000504005.5 UniProtKB/Swiss-Prot
  ENST00000508747.1 UniProtKB/Swiss-Prot
  ENST00000513834.5 UniProtKB/Swiss-Prot
Gene3D-CATH 2.20.70.10 UniProtKB/Swiss-Prot
  2.60.40.150 UniProtKB/Swiss-Prot
GTEx ENSG00000151718 GTEx
HGNC ID HGNC:24148 ENTREZGENE
Human Proteome Map WWC2 Human Proteome Map
InterPro C2_dom UniProtKB/Swiss-Prot
  C2_domain_sf UniProtKB/Swiss-Prot
  C2_WWC UniProtKB/Swiss-Prot
  WW_dom UniProtKB/Swiss-Prot
  WW_dom_sf UniProtKB/Swiss-Prot
  WWC/KIBRA_Hippo_Reg UniProtKB/Swiss-Prot
  WWC1_hairpin UniProtKB/Swiss-Prot
KEGG Report hsa:80014 UniProtKB/Swiss-Prot
NCBI Gene 80014 ENTREZGENE
OMIM 620110 OMIM
PANTHER BOMB/KIRA PROTEINS UniProtKB/Swiss-Prot
  PROTEIN WWC2 UniProtKB/Swiss-Prot
Pfam PF00397 UniProtKB/Swiss-Prot
  WWC1 UniProtKB/Swiss-Prot
PharmGKB PA143485671 PharmGKB
PROSITE PS50004 UniProtKB/Swiss-Prot
  WW_DOMAIN_1 UniProtKB/Swiss-Prot
  WW_DOMAIN_2 UniProtKB/Swiss-Prot
SMART SM00456 UniProtKB/Swiss-Prot
Superfamily-SCOP SSF49562 UniProtKB/Swiss-Prot
  SSF51045 UniProtKB/Swiss-Prot
UniProt A0ACI8R5T3_HUMAN UniProtKB/TrEMBL
  A0ACI8RJG9_HUMAN UniProtKB/TrEMBL
  A0ACI8RMQ0_HUMAN UniProtKB/TrEMBL
  A0ACI8TWR8_HUMAN UniProtKB/TrEMBL
  A0ACI8TWR9_HUMAN UniProtKB/TrEMBL
  A0ACI8TWS5_HUMAN UniProtKB/TrEMBL
  A0ACI8TWT5 ENTREZGENE, UniProtKB/TrEMBL
  A0ACI8TWW0_HUMAN UniProtKB/TrEMBL
  A0ACI8V753_HUMAN UniProtKB/TrEMBL
  A0ACI8V9Y9 ENTREZGENE, UniProtKB/TrEMBL
  D6R9P8_HUMAN UniProtKB/TrEMBL
  F8WET3_HUMAN UniProtKB/TrEMBL
  Q32Q84 ENTREZGENE
  Q69YQ1 ENTREZGENE
  Q6AWB8 ENTREZGENE
  Q6AWC2 ENTREZGENE
  Q6ZSY9 ENTREZGENE
  Q6ZU09 ENTREZGENE
  Q7Z620 ENTREZGENE
  Q8TEB8 ENTREZGENE
  Q9H6P0 ENTREZGENE
  WWC2_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary Q32Q84 UniProtKB/Swiss-Prot
  Q69YQ1 UniProtKB/Swiss-Prot
  Q6AWB8 UniProtKB/Swiss-Prot
  Q6ZSY9 UniProtKB/Swiss-Prot
  Q6ZU09 UniProtKB/Swiss-Prot
  Q7Z620 UniProtKB/Swiss-Prot
  Q8TEB8 UniProtKB/Swiss-Prot
  Q9H6P0 UniProtKB/Swiss-Prot