IQCB1 (IQ motif containing B1) - Rat Genome Database

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Gene: IQCB1 (IQ motif containing B1) Homo sapiens
Analyze
Symbol: IQCB1
Name: IQ motif containing B1
RGD ID: 1320759
HGNC Page HGNC:28949
Description: Enables several functions, including BBSome binding activity; calmodulin binding activity; and enzyme binding activity. Involved in cytosolic ciliogenesis; maintenance of animal organ identity; and photoreceptor cell maintenance. Located in several cellular components, including intercellular bridge; mitotic spindle; and photoreceptor connecting cilium. Is active in centrosome. Implicated in Leber congenital amaurosis; Senior-Loken syndrome; nephronophthisis; and retinitis pigmentosa 3.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: IQ calmodulin-binding motif containing 1; IQ calmodulin-binding motif-containing protein 1; nephrocystin 5; NPHP5; p53 and DNA damage-regulated IQ motif protein; PIQ; SLSN5
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Related Pseudogenes: IQCB2P  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh383121,769,761 - 121,835,060 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl3121,769,761 - 121,835,079 (-)EnsemblGRCh38hg38GRCh38
GRCh373121,488,608 - 121,553,907 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 363122,971,531 - 123,036,616 (-)NCBINCBI36Build 36hg18NCBI36
Build 343122,971,533 - 123,036,616NCBI
Celera3119,898,471 - 119,963,801 (-)NCBICelera
Cytogenetic Map3q13.33NCBI
HuRef3118,862,589 - 118,928,009 (-)NCBIHuRef
CHM1_13121,452,078 - 121,517,407 (-)NCBICHM1_1
T2T-CHM13v2.03124,489,717 - 124,555,054 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. Polymorphic variation of RPGRIP1L and IQCB1 as modifiers of X-linked retinitis pigmentosa caused by mutations in RPGR. Fahim AT, etal., Adv Exp Med Biol. 2012;723:313-20. doi: 10.1007/978-1-4614-0631-0_41.
2. Allelic heterogeneity and genetic modifier loci contribute to clinical variation in males with X-linked retinitis pigmentosa due to RPGR mutations. Fahim AT, etal., PLoS One. 2011;6(8):e23021. doi: 10.1371/journal.pone.0023021. Epub 2011 Aug 12.
3. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
4. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
5. Mutation analysis in nephronophthisis using a combined approach of homozygosity mapping, CEL I endonuclease cleavage, and direct sequencing. Otto EA, etal., Hum Mutat. 2008 Mar;29(3):418-26.
6. Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin. Otto EA, etal., Nat Genet. 2005 Mar;37(3):282-8. Epub 2005 Feb 20.
7. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
8. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
9. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
10. Variations in NPHP5 in patients with nonsyndromic leber congenital amaurosis and Senior-Loken syndrome. Stone EM, etal., Arch Ophthalmol. 2011 Jan;129(1):81-7. doi: 10.1001/archophthalmol.2010.330.
11. Whole-exome sequencing identifies ALMS1, IQCB1, CNGA3, and MYO7A mutations in patients with Leber congenital amaurosis. Wang X, etal., Hum Mutat. 2011 Dec;32(12):1450-9. doi: 10.1002/humu.21587. Epub 2011 Sep 23.
Additional References at PubMed
PMID:7584026   PMID:7584028   PMID:8889548   PMID:12244321   PMID:12477932   PMID:15489334   PMID:15661758   PMID:15723349   PMID:16322217   PMID:18570454   PMID:18723859   PMID:19118152  
PMID:19322201   PMID:20301475   PMID:20301743   PMID:20881296   PMID:21068128   PMID:21245082   PMID:21399614   PMID:21565611   PMID:21602787   PMID:21873635   PMID:21903422   PMID:23382074  
PMID:23383273   PMID:23446637   PMID:23752268   PMID:24674142   PMID:25552655   PMID:25851290   PMID:26186194   PMID:26496610   PMID:26638075   PMID:26673895   PMID:26972000   PMID:27173435  
PMID:27328943   PMID:27336129   PMID:27506978   PMID:28498859   PMID:28514442   PMID:29229926   PMID:29322253   PMID:29959317   PMID:30285347   PMID:30561431   PMID:30584065   PMID:31177295  
PMID:31212307   PMID:32296183   PMID:32707033   PMID:33512896   PMID:33766124   PMID:33847778   PMID:33853758   PMID:33961781   PMID:34079125   PMID:34349018   PMID:34672954   PMID:35271311  
PMID:35446349   PMID:35509820   PMID:35563538   PMID:35915203   PMID:36931259   PMID:36949045   PMID:37827155   PMID:38522724   PMID:38580884  


Genomics

Comparative Map Data
IQCB1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh383121,769,761 - 121,835,060 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl3121,769,761 - 121,835,079 (-)EnsemblGRCh38hg38GRCh38
GRCh373121,488,608 - 121,553,907 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 363122,971,531 - 123,036,616 (-)NCBINCBI36Build 36hg18NCBI36
Build 343122,971,533 - 123,036,616NCBI
Celera3119,898,471 - 119,963,801 (-)NCBICelera
Cytogenetic Map3q13.33NCBI
HuRef3118,862,589 - 118,928,009 (-)NCBIHuRef
CHM1_13121,452,078 - 121,517,407 (-)NCBICHM1_1
T2T-CHM13v2.03124,489,717 - 124,555,054 (-)NCBIT2T-CHM13v2.0
Iqcb1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391636,648,722 - 36,694,044 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1636,648,747 - 36,693,083 (+)EnsemblGRCm39 Ensembl
GRCm381636,828,360 - 36,872,719 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1636,828,385 - 36,872,721 (+)EnsemblGRCm38mm10GRCm38
MGSCv371636,828,486 - 36,872,805 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361636,747,647 - 36,791,952 (+)NCBIMGSCv36mm8
Celera1637,239,431 - 37,283,593 (+)NCBICelera
Cytogenetic Map16B3NCBI
cM Map1626.11NCBI
Iqcb1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81177,410,986 - 77,465,540 (-)NCBIGRCr8
mRatBN7.21163,905,595 - 63,960,141 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1163,905,590 - 63,960,093 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1172,718,005 - 72,772,493 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01165,380,229 - 65,434,717 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01164,414,526 - 64,469,006 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01166,824,059 - 66,878,585 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1166,824,065 - 66,878,551 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01169,914,664 - 69,969,813 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41165,708,818 - 65,763,303 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11165,766,406 - 65,820,891 (-)NCBI
Celera1163,378,195 - 63,432,314 (-)NCBICelera
Cytogenetic Map11q21NCBI
Iqcb1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495542721,118,703 - 21,171,683 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495542721,120,012 - 21,171,838 (-)NCBIChiLan1.0ChiLan1.0
IQCB1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22119,726,633 - 119,791,434 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan13119,731,421 - 119,796,212 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v03118,871,589 - 118,936,591 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.13125,779,453 - 125,844,242 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl3125,779,453 - 125,844,242 (-)Ensemblpanpan1.1panPan2
IQCB1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13325,046,975 - 25,113,252 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl3325,047,172 - 25,112,652 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3325,073,613 - 25,137,949 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.03325,282,284 - 25,348,614 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl3325,282,286 - 25,348,533 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.13325,081,152 - 25,146,368 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.03325,123,230 - 25,188,414 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.03325,680,892 - 25,746,638 (-)NCBIUU_Cfam_GSD_1.0
Iqcb1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405602129,308,278 - 129,357,886 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365368,163,554 - 8,213,708 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365368,164,120 - 8,213,690 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
IQCB1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl13138,681,740 - 138,741,367 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.113138,689,544 - 138,741,228 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.213148,308,753 - 148,368,283 (+)NCBISscrofa10.2Sscrofa10.2susScr3
IQCB1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12259,025,265 - 59,097,930 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2259,025,261 - 59,098,138 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666041107,222,762 - 107,296,530 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Iqcb1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462491256,946 - 113,438 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462491256,209 - 112,766 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in IQCB1
441 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001023570.4(IQCB1):c.1558C>T (p.Gln520Ter) single nucleotide variant IQCB1-related disorder [RCV003935382]|Nephronophthisis [RCV001851495]|Retinal dystrophy [RCV004817754]|Senior-Loken syndrome 5 [RCV001331479]|not provided [RCV000521100] Chr3:121772566 [GRCh38]
Chr3:121491413 [GRCh37]
Chr3:3q13.33		 pathogenic|likely pathogenic|uncertain significance
NM_001023570.4(IQCB1):c.333del (p.Ala112fs) deletion Senior-Loken syndrome 5 [RCV000023755] Chr3:121826111 [GRCh38]
Chr3:121544958 [GRCh37]
Chr3:3q13.33		 pathogenic
IQCB1, 2-BP DEL, 1516CA deletion Senior-Loken syndrome 5 [RCV000023756] Chr3:3q21.1 pathogenic
NM_001023570.4(IQCB1):c.1522_1523dup (p.Ala509fs) microsatellite Nephronophthisis [RCV001379695]|Senior-Loken syndrome 5 [RCV000144461] Chr3:121772600..121772601 [GRCh38]
Chr3:121491447..121491448 [GRCh37]
Chr3:3q13.33		 pathogenic|likely pathogenic
NM_001023570.4(IQCB1):c.424_425del (p.Phe142fs) deletion Leber congenital amaurosis [RCV000505085]|Nephronophthisis [RCV000822567]|Retinal dystrophy [RCV001073766]|Senior-Loken syndrome 5 [RCV000001905]|not provided [RCV001093170] Chr3:121808978..121808979 [GRCh38]
Chr3:121527825..121527826 [GRCh37]
Chr3:3q13.33		 pathogenic
NM_001023570.4(IQCB1):c.445_448del (p.Leu149fs) microsatellite Senior-Loken syndrome 5 [RCV000001906] Chr3:121808955..121808958 [GRCh38]
Chr3:121527802..121527805 [GRCh37]
Chr3:3q13.33		 pathogenic
NM_001023570.4(IQCB1):c.825_828del (p.Arg275fs) deletion IQCB1-related disorder [RCV004755699]|Nephronophthisis [RCV001050356]|Senior-Loken syndrome 5 [RCV000001907] Chr3:121797166..121797169 [GRCh38]
Chr3:121516013..121516016 [GRCh37]
Chr3:3q13.33		 pathogenic
NM_001023570.4(IQCB1):c.1130-258A>G single nucleotide variant not provided [RCV001564096] Chr3:121788690 [GRCh38]
Chr3:121507537 [GRCh37]
Chr3:3q13.33		 likely benign
NM_001023570.4(IQCB1):c.1465C>T (p.Arg489Ter) single nucleotide variant Nephronophthisis [RCV000800060]|Retinal dystrophy [RCV001075299]|Senior-Loken syndrome 5 [RCV000023757] Chr3:121772659 [GRCh38]
Chr3:121491506 [GRCh37]
Chr3:3q13.33		 pathogenic
NM_001023570.4(IQCB1):c.1036G>T (p.Glu346Ter) single nucleotide variant Leber congenital amaurosis [RCV000504719]|Nephronophthisis [RCV000462160]|Senior-Loken syndrome 5 [RCV000023758] Chr3:121790166 [GRCh38]
Chr3:121509013 [GRCh37]
Chr3:3q13.33		 pathogenic
NM_001023570.4(IQCB1):c.1381C>T (p.Arg461Ter) single nucleotide variant IQCB1-related disorder [RCV003398416]|Inborn genetic diseases [RCV003362658]|Nephronophthisis [RCV000230781]|Renal dysplasia and retinal aplasia [RCV001003059]|Retinal dystrophy [RCV000505099]|Senior-Loken syndrome 5 [RCV000001904]|not provided [RCV000681897] Chr3:121781772 [GRCh38]
Chr3:121500619 [GRCh37]
Chr3:3q13.33		 pathogenic
NM_001023570.4(IQCB1):c.1069C>T (p.Gln357Ter) single nucleotide variant Senior-Loken syndrome 5 [RCV000001908] Chr3:121790133 [GRCh38]
Chr3:121508980 [GRCh37]
Chr3:3q13.33		 pathogenic
GRCh38/hg38 3q13.33-21.2(chr3:121644209-125676353)x1 copy number loss See cases [RCV000051569] Chr3:121644209..125676353 [GRCh38]
Chr3:121363056..125395197 [GRCh37]
Chr3:122845746..126877887 [NCBI36]
Chr3:3q13.33-21.2		 pathogenic
GRCh38/hg38 3q11.1-21.1(chr3:93886671-123216683)x1 copy number loss See cases [RCV000051543] Chr3:93886671..123216683 [GRCh38]
Chr3:93605515..122935530 [GRCh37]
Chr3:95088205..124418220 [NCBI36]
Chr3:3q11.1-21.1		 pathogenic
GRCh38/hg38 3q13.32-21.2(chr3:119117166-125920734)x1 copy number loss See cases [RCV000051546] Chr3:119117166..125920734 [GRCh38]
Chr3:118836013..125639577 [GRCh37]
Chr3:120318703..127122267 [NCBI36]
Chr3:3q13.32-21.2		 pathogenic
NM_001023570.4(IQCB1):c.1518_1519del (p.His506fs) microsatellite IQCB1-related disorder [RCV004755762]|Nephronophthisis [RCV001042285]|Retinal dystrophy [RCV004815004]|Retinitis pigmentosa [RCV000787844]|Senior-Loken syndrome 5 [RCV000174695]|not provided [RCV000790716] Chr3:121772605..121772606 [GRCh38]
Chr3:121491452..121491453 [GRCh37]
Chr3:3q13.33		 pathogenic|likely pathogenic
NM_001023570.4(IQCB1):c.817G>T (p.Glu273Ter) single nucleotide variant not provided [RCV000180543] Chr3:121797177 [GRCh38]
Chr3:121516024 [GRCh37]
Chr3:3q13.33		 pathogenic
NM_001023570.4(IQCB1):c.574C>T (p.Leu192=) single nucleotide variant Nephronophthisis [RCV000860066]|Senior-Loken syndrome 5 [RCV000372741]|not provided [RCV001618335]|not specified [RCV000179799] Chr3:121807357 [GRCh38]
Chr3:121526204 [GRCh37]
Chr3:3q13.33		 benign
NM_001023570.4(IQCB1):c.877-10G>A single nucleotide variant Nephronophthisis [RCV001419219]|not provided [RCV000173719] Chr3:121795576 [GRCh38]
Chr3:121514423 [GRCh37]
Chr3:3q13.33		 likely benign|uncertain significance
GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3 copy number gain See cases [RCV000134948] Chr3:103426882..198110178 [GRCh38]
Chr3:103145726..197837049 [GRCh37]
Chr3:104628416..199321446 [NCBI36]
Chr3:3q13.11-29		 pathogenic
GRCh38/hg38 3q13.31-21.1(chr3:115019074-122513398)x1 copy number loss See cases [RCV000135961] Chr3:115019074..122513398 [GRCh38]
Chr3:114737921..122232245 [GRCh37]
Chr3:116220611..123714935 [NCBI36]
Chr3:3q13.31-21.1		 pathogenic
GRCh38/hg38 3q13.2-21.3(chr3:112620977-128734134)x1 copy number loss See cases [RCV000139033] Chr3:112620977..128734134 [GRCh38]
Chr3:112339824..128452977 [GRCh37]
Chr3:113822514..129935667 [NCBI36]
Chr3:3q13.2-21.3		 pathogenic
GRCh38/hg38 3q13.31-21.2(chr3:114122562-124532374)x1 copy number loss See cases [RCV000142009] Chr3:114122562..124532374 [GRCh38]
Chr3:113841409..124251221 [GRCh37]
Chr3:115324099..125733911 [NCBI36]
Chr3:3q13.31-21.2		 pathogenic
GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3 copy number gain See cases [RCV000142340] Chr3:93800620..145695381 [GRCh38]
Chr3:93519464..145413168 [GRCh37]
Chr3:95002154..146895858 [NCBI36]
Chr3:3q11.1-24		 pathogenic
GRCh38/hg38 3q13.32-21.3(chr3:118673898-126540730)x1 copy number loss See cases [RCV000143695] Chr3:118673898..126540730 [GRCh38]
Chr3:118392745..126259573 [GRCh37]
Chr3:119875435..127742263 [NCBI36]
Chr3:3q13.32-21.3		 pathogenic
NM_001023570.4(IQCB1):c.1178T>A (p.Ile393Asn) single nucleotide variant Nephronophthisis [RCV000234821]|Senior-Loken syndrome 5 [RCV000325055]|not provided [RCV001706024]|not specified [RCV000153382] Chr3:121788384 [GRCh38]
Chr3:121788384..121788385 [GRCh38]
Chr3:121507231 [GRCh37]
Chr3:121507231..121507232 [GRCh37]
Chr3:3q13.33		 pathogenic|benign|likely benign
NM_001023570.4(IQCB1):c.1090C>T (p.Arg364Ter) single nucleotide variant Nephronophthisis [RCV000707207]|Senior-Loken syndrome 5 [RCV002250577]|not provided [RCV000174030] Chr3:121790112 [GRCh38]
Chr3:121508959 [GRCh37]
Chr3:3q13.33		 pathogenic
NM_001023570.4(IQCB1):c.264-2A>T single nucleotide variant Nephronophthisis [RCV002514955]|Senior-Loken syndrome 5 [RCV004567175]|not provided [RCV000178818] Chr3:121826182 [GRCh38]
Chr3:121545029 [GRCh37]
Chr3:3q13.33		 pathogenic
NM_001023570.4(IQCB1):c.322C>T (p.Leu108Phe) single nucleotide variant Nephronophthisis [RCV001244256]|Senior-Loken syndrome 5 [RCV002492785]|not provided [RCV000178819] Chr3:121826122 [GRCh38]
Chr3:121544969 [GRCh37]
Chr3:3q13.33		 uncertain significance
NM_001023570.4(IQCB1):c.545C>A (p.Ser182Tyr) single nucleotide variant not provided [RCV000179798] Chr3:121807386 [GRCh38]
Chr3:121526233 [GRCh37]
Chr3:3q13.33		 uncertain significance
NM_001023570.4(IQCB1):c.814C>G (p.Gln272Glu) single nucleotide variant Nephronophthisis [RCV001852252]|Senior-Loken syndrome 5 [RCV001150847]|not provided [RCV000180541] Chr3:121797180 [GRCh38]
Chr3:121516027 [GRCh37]
Chr3:3q13.33		 uncertain significance
NM_001023570.4(IQCB1):c.826C>G (p.Gln276Glu) single nucleotide variant Senior-Loken syndrome 5 [RCV002500522]|not provided [RCV000180542] Chr3:121797168 [GRCh38]
Chr3:121516015 [GRCh37]
Chr3:3q13.33		 uncertain significance
NM_001023570.4(IQCB1):c.1549A>T (p.Asn517Tyr) single nucleotide variant IQCB1-related disorder [RCV003947644]|Nephronophthisis [RCV000196260]|Senior-Loken syndrome 5 [RCV000299620]|not provided [RCV001562096]|not specified [RCV000351992] Chr3:121772575 [GRCh38]
Chr3:121491422 [GRCh37]
Chr3:3q13.33		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001023570.4(IQCB1):c.1046A>G (p.Lys349Arg) single nucleotide variant Nephronophthisis [RCV000199347]|Senior-Loken syndrome 5 [RCV002503781] Chr3:121790156 [GRCh38]
Chr3:121509003 [GRCh37]
Chr3:3q13.33		 uncertain significance
NM_001023570.4(IQCB1):c.424T>C (p.Phe142Leu) single nucleotide variant Nephronophthisis [RCV000203842]|Senior-Loken syndrome 5 [RCV002500648]|not provided [RCV003225041]|not specified [RCV000245649] Chr3:121808979 [GRCh38]
Chr3:121527826 [GRCh37]
Chr3:3q13.33		 benign|likely benign
NM_001023570.4(IQCB1):c.1303C>T (p.Arg435Cys) single nucleotide variant Nephronophthisis [RCV000203978]|Senior-Loken syndrome 5 [RCV000333367]|not provided [RCV001636722]|not specified [RCV001699233] Chr3:121781850 [GRCh38]
Chr3:121500697 [GRCh37]
Chr3:3q13.33		 benign|likely benign
NM_001023570.4(IQCB1):c.1441G>A (p.Glu481Lys) single nucleotide variant IQCB1-related disorder [RCV003917846]|Nephronophthisis [RCV001082244]|Retinitis pigmentosa [RCV000787845]|Senior-Loken syndrome 5 [RCV001147493]|not provided [RCV000519668] Chr3:121772683 [GRCh38]
Chr3:121491530 [GRCh37]
Chr3:3q13.33		 likely pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001023570.4(IQCB1):c.394-15_394-10dup duplication Nephronophthisis [RCV001079757]|not provided [RCV000286564] Chr3:121809018..121809019 [GRCh38]
Chr3:121527865..121527866 [GRCh37]
Chr3:3q13.33		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001023570.4(IQCB1):c.853G>T (p.Val285Phe) single nucleotide variant Nephronophthisis [RCV001367886] Chr3:121797141 [GRCh38]
Chr3:121515988 [GRCh37]
Chr3:3q13.33		 uncertain significance
NM_001023570.4(IQCB1):c.101-48T>C single nucleotide variant not provided [RCV001689810]|not specified [RCV000248557] Chr3:121828680 [GRCh38]
Chr3:121547527 [GRCh37]
Chr3:3q13.33		 benign
GRCh37/hg19 3q13.33-21.1(chr3:119749810-122459323)x3 copy number gain See cases [RCV000240473] Chr3:119749810..122459323 [GRCh37]
Chr3:3q13.33-21.1		 likely pathogenic
NM_001023570.4(IQCB1):c.1568-19del deletion Nephronophthisis [RCV001514684]|not provided [RCV001668452]|not specified [RCV000242464] Chr3:121770593 [GRCh38]
Chr3:121489440 [GRCh37]
Chr3:3q13.33		 benign
NM_001023570.4(IQCB1):c.588T>C (p.Ser196=) single nucleotide variant Nephronophthisis [RCV000528132]|Senior-Loken syndrome 5 [RCV001144732]|not provided [RCV001573229]|not specified [RCV000242647] Chr3:121799374 [GRCh38]
Chr3:121518221 [GRCh37]
Chr3:3q13.33		 benign|likely benign
NM_001023570.4(IQCB1):c.766+46T>C single nucleotide variant not provided [RCV001610595]|not specified [RCV000247831] Chr3:121799150 [GRCh38]
Chr3:121517997 [GRCh37]
Chr3:3q13.33		 benign
NM_001023570.4(IQCB1):c.1410+18C>T single nucleotide variant Nephronophthisis [RCV001457269]|not specified [RCV000250279] Chr3:121781725 [GRCh38]
Chr3:121500572 [GRCh37]
Chr3:3q13.33		 likely benign
NM_001023570.4(IQCB1):c.1301G>A (p.Cys434Tyr) single nucleotide variant Nephronophthisis [RCV000860442]|Senior-Loken syndrome 5 [RCV000987308]|not provided [RCV001636756]|not specified [RCV000245543] Chr3:121781852 [GRCh38]
Chr3:121500699 [GRCh37]
Chr3:3q13.33		 benign
NM_001023570.4(IQCB1):c.214C>T (p.Arg72Ter) single nucleotide variant Leber congenital amaurosis [RCV000504702]|Nephronophthisis [RCV001384418]|Senior-Loken syndrome 5 [RCV001535872]|not provided [RCV000329866] Chr3:121828519 [GRCh38]
Chr3:121547366 [GRCh37]
Chr3:3q13.33		 pathogenic|likely pathogenic
NM_001023570.4(IQCB1):c.-190C>T single nucleotide variant Senior-Loken syndrome 5 [RCV000269766] Chr3:121835054 [GRCh38]
Chr3:121553901 [GRCh37]
Chr3:3q13.33		 uncertain significance
NM_001023570.4(IQCB1):c.1278+7C>T single nucleotide variant Senior-Loken syndrome 5 [RCV000270245] Chr3:121788277 [GRCh38]
Chr3:121507124 [GRCh37]
Chr3:3q13.33		 uncertain significance
NM_001023570.4(IQCB1):c.1129+13A>G single nucleotide variant Nephronophthisis [RCV002057824]|Senior-Loken syndrome 5 [RCV000271044] Chr3:121790060 [GRCh38]
Chr3:121508907 [GRCh37]
Chr3:3q13.33		 likely benign|uncertain significance
NM_001023570.4(IQCB1):c.1344A>G (p.Gln448=) single nucleotide variant Nephronophthisis [RCV000874835]|Renal dysplasia and retinal aplasia [RCV000273684] Chr3:121781809 [GRCh38]
Chr3:121500656 [GRCh37]
Chr3:3q13.33		 likely benign|uncertain significance
NM_001023570.4(IQCB1):c.488-13dup duplication Nephronophthisis [RCV002057825]|Renal dysplasia and retinal aplasia [RCV000278957] Chr3:121807455..121807456 [GRCh38]
Chr3:121526302..121526303 [GRCh37]
Chr3:3q13.33		 benign|uncertain significance
NM_001023570.4(IQCB1):c.1739A>C (p.Lys580Thr) single nucleotide variant Senior-Loken syndrome 5 [RCV000304504] Chr3:121770403 [GRCh38]
Chr3:121489250 [GRCh37]
Chr3:3q13.33		 uncertain significance
NM_001023570.4(IQCB1):c.-185C>G single nucleotide variant Senior-Loken syndrome 5 [RCV000363860] Chr3:121835049 [GRCh38]
Chr3:121553896 [GRCh37]
Chr3:3q13.33		 uncertain significance
NM_001023570.3(IQCB1):c.-215C>T single nucleotide variant Renal dysplasia and retinal aplasia [RCV000365398] Chr3:121835079 [GRCh38]
Chr3:121553926 [GRCh37]
Chr3:3q13.33		 uncertain significance
NM_001023570.4(IQCB1):c.1135G>A (p.Val379Met) single nucleotide variant Senior-Loken syndrome 5 [RCV000384327] Chr3:121788427 [GRCh38]
Chr3:121507274 [GRCh37]
Chr3:3q13.33		 uncertain significance
NM_001023570.4(IQCB1):c.-147del deletion Renal dysplasia and retinal aplasia [RCV000349275] Chr3:121835011 [GRCh38]
Chr3:121553858 [GRCh37]
Chr3:3q13.33		 uncertain significance
NM_001023570.4(IQCB1):c.1544G>T (p.Ser515Ile) single nucleotide variant Senior-Loken syndrome 5 [RCV000368424] Chr3:121772580 [GRCh38]
Chr3:121491427 [GRCh37]
Chr3:3q13.33		 uncertain significance
NM_001023570.4(IQCB1):c.877-11C>T single nucleotide variant Nephronophthisis [RCV001510260]|Senior-Loken syndrome 5 [RCV000321425] Chr3:121795577 [GRCh38]
Chr3:121514424 [GRCh37]
Chr3:3q13.33		 benign|uncertain significance
NM_001023570.4(IQCB1):c.722A>G (p.His241Arg) single nucleotide variant Senior-Loken syndrome 5 [RCV000286514] Chr3:121799240 [GRCh38]
Chr3:121518087 [GRCh37]
Chr3:3q13.33		 uncertain significance
NM_001023570.4(IQCB1):c.482A>G (p.Gln161Arg) single nucleotide variant IQCB1-related disorder [RCV004755891]|Inborn genetic diseases [RCV002523239]|Nephronophthisis [RCV002520073]|Senior-Loken syndrome 5 [RCV000338631] Chr3:121808921 [GRCh38]
Chr3:121527768 [GRCh37]
Chr3:3q13.33		 uncertain significance
NM_001023570.4(IQCB1):c.1611C>T (p.Leu537=) single nucleotide variant Nephronophthisis [RCV002057823]|Senior-Loken syndrome 5 [RCV000353462] Chr3:121770531 [GRCh38]
Chr3:121489378 [GRCh37]
Chr3:3q13.33		 likely benign|uncertain significance
NM_001023570.4(IQCB1):c.*226T>C single nucleotide variant Senior-Loken syndrome 5 [RCV000339428] Chr3:121770119 [GRCh38]
Chr3:121488966 [GRCh37]
Chr3:3q13.33		 uncertain significance
NM_001023570.4(IQCB1):c.-193T>C single nucleotide variant Senior-Loken syndrome 5 [RCV000310849]|not provided [RCV004716002] Chr3:121835057 [GRCh38]
Chr3:121553904 [GRCh37]
Chr3:3q13.33		 benign|likely benign
NM_001023570.4(IQCB1):c.714T>C (p.Ala238=) single nucleotide variant Nephronophthisis [RCV002523238]|Senior-Loken syndrome 5 [RCV000341381] Chr3:121799248 [GRCh38]
Chr3:121518095 [GRCh37]
Chr3:3q13.33		 likely benign|uncertain significance
NM_001023570.4(IQCB1):c.1595G>A (p.Gly532Glu) single nucleotide variant Senior-Loken syndrome 5 [RCV000394185] Chr3:121770547 [GRCh38]
Chr3:121489394 [GRCh37]
Chr3:3q13.33		 uncertain significance
NM_001023570.4(IQCB1):c.*197G>C single nucleotide variant Senior-Loken syndrome 5 [RCV000394184]|not provided [RCV001683366] Chr3:121770148 [GRCh38]
Chr3:121488995 [GRCh37]
Chr3:3q13.33		 benign
NM_001023570.4(IQCB1):c.823A>G (p.Arg275Gly) single nucleotide variant Senior-Loken syndrome 5 [RCV000376314] Chr3:121797171 [GRCh38]
Chr3:121516018 [GRCh37]
Chr3:3q13.33		 uncertain significance
NM_001023570.4(IQCB1):c.-154T>G single nucleotide variant Senior-Loken syndrome 5 [RCV000395780] Chr3:121835018 [GRCh38]
Chr3:121553865 [GRCh37]
Chr3:3q13.33		 uncertain significance
NM_001023570.4(IQCB1):c.348A>G (p.Leu116=) single nucleotide variant IQCB1-related disorder [RCV003957770]|Nephronophthisis [RCV002057826]|Senior-Loken syndrome 5 [RCV000395791] Chr3:121826096 [GRCh38]
Chr3:121544943 [GRCh37]
Chr3:3q13.33		 likely benign|uncertain significance
NM_001023570.4(IQCB1):c.-147_-142del deletion Renal dysplasia and retinal aplasia [RCV000313102] Chr3:121835006..121835011 [GRCh38]
Chr3:121553853..121553858 [GRCh37]
Chr3:3q13.33		 benign
NM_001023570.4(IQCB1):c.-178C>T single nucleotide variant Senior-Loken syndrome 5 [RCV000313889] Chr3:121835042 [GRCh38]
Chr3:121553889 [GRCh37]
Chr3:3q13.33		 likely benign|uncertain significance
NM_001023570.4(IQCB1):c.775C>T (p.Arg259Cys) single nucleotide variant Bardet-Biedl syndrome [RCV003224343]|Nephronophthisis [RCV002532517]|not provided [RCV000596087] Chr3:121797219 [GRCh38]
Chr3:121516066 [GRCh37]
Chr3:3q13.33		 likely pathogenic|benign|uncertain significance
NM_001023570.4(IQCB1):c.1450G>A (p.Ala484Thr) single nucleotide variant Inborn genetic diseases [RCV004024715]|Nephronophthisis [RCV001854011]|Senior-Loken syndrome 5 [RCV002483581]|not provided [RCV000593079]|not specified [RCV001821718] Chr3:121772674 [GRCh38]
Chr3:121491521 [GRCh37]
Chr3:3q13.33		 uncertain significance
NM_001023570.4(IQCB1):c.1216A>T (p.Asn406Tyr) single nucleotide variant not provided [RCV000595065] Chr3:121788346 [GRCh38]
Chr3:121507193 [GRCh37]
Chr3:3q13.33		 uncertain significance
NM_001023570.4(IQCB1):c.1278+1G>A single nucleotide variant Retinal dystrophy [RCV000504874] Chr3:121788283 [GRCh38]
Chr3:121507130 [GRCh37]
Chr3:3q13.33		 likely pathogenic
NM_001023570.4(IQCB1):c.260T>G (p.Leu87Ter) single nucleotide variant Leber congenital amaurosis [RCV000504928] Chr3:121828473 [GRCh38]
Chr3:121547320 [GRCh37]
Chr3:3q13.33		 likely pathogenic
GRCh37/hg19 3q13.33(chr3:121449737-121631940)x3 copy number gain See cases [RCV000448696] Chr3:121449737..121631940 [GRCh37]
Chr3:3q13.33		 uncertain significance
NM_001023570.4(IQCB1):c.897_900dup (p.Ile301fs) duplication Nephronophthisis [RCV000472734]|Retinal dystrophy [RCV001075285]|Senior-Loken syndrome 5 [RCV000678580]|not provided [RCV000681898] Chr3:121795542..121795543 [GRCh38]
Chr3:121514389..121514390 [GRCh37]
Chr3:3q13.33		 pathogenic
NM_001023570.4(IQCB1):c.1513del (p.Gln505fs) deletion not provided [RCV000479224] Chr3:121772611 [GRCh38]
Chr3:121491458 [GRCh37]
Chr3:3q13.33		 pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3 copy number gain See cases [RCV000511055] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
NM_001023570.4(IQCB1):c.1363C>T (p.Arg455Ter) single nucleotide variant Nephronophthisis [RCV002529304]|Renal dysplasia and retinal aplasia [RCV000615076]|Retinal dystrophy [RCV004817814]|Senior-Loken syndrome 5 [RCV004568321] Chr3:121781790 [GRCh38]
Chr3:121500637 [GRCh37]
Chr3:3q13.33		 pathogenic
NM_001023570.4(IQCB1):c.1025A>C (p.Gln342Pro) single nucleotide variant Inborn genetic diseases [RCV003242769] Chr3:121790177 [GRCh38]
Chr3:121509024 [GRCh37]
Chr3:3q13.33		 uncertain significance
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986) copy number gain See cases [RCV000512358] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
GRCh37/hg19 3q13.31-21.1(chr3:115518341-122129283)x1 copy number loss not provided [RCV000682298] Chr3:115518341..122129283 [GRCh37]
Chr3:3q13.31-21.1		 pathogenic
NM_001023570.4(IQCB1):c.1632_1638dup (p.Ala547fs) duplication Nephronophthisis [RCV001360061]|Retinal dystrophy [RCV000678578] Chr3:121770503..121770504 [GRCh38]
Chr3:121489350..121489351 [GRCh37]
Chr3:3q13.33		 pathogenic|uncertain significance
NM_001023570.4(IQCB1):c.994C>T (p.Arg332Ter) single nucleotide variant Nephronophthisis [RCV001855625]|Retinal dystrophy [RCV000678581]|Senior-Loken syndrome 5 [RCV003465543] Chr3:121790208 [GRCh38]
Chr3:121509055 [GRCh37]
Chr3:3q13.33		 pathogenic
NM_001023570.3(IQCB1):c.900_901insCTTG (p.Ile301Leufs) insertion not provided [RCV000681898] Chr3:121795542..121795543 [GRCh38]
Chr3:121514389..121514390 [GRCh37]
Chr3:3q13.33		 pathogenic
NM_001023570.4(IQCB1):c.1504C>T (p.Arg502Ter) single nucleotide variant Nephronophthisis [RCV000689770]|Retinal dystrophy [RCV001075298]|Senior-Loken syndrome 5 [RCV003459679] Chr3:121772620 [GRCh38]
Chr3:121491467 [GRCh37]
Chr3:3q13.33		 pathogenic
GRCh37/hg19 3p26.3-q29(chr3:60174-197948027)x3 copy number gain not provided [RCV000742133] Chr3:60174..197948027 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61495-197838262)x3 copy number gain not provided [RCV000742138] Chr3:61495..197838262 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
GRCh37/hg19 3q13.33(chr3:121488353-121614175)x3 copy number gain not provided [RCV000742719] Chr3:121488353..121614175 [GRCh37]
Chr3:3q13.33		 benign
NM_001023570.4(IQCB1):c.986+143A>G single nucleotide variant not provided [RCV001610074] Chr3:121795314 [GRCh38]
Chr3:121514161 [GRCh37]
Chr3:3q13.33		 benign
NM_001023570.4(IQCB1):c.782T>G (p.Leu261Arg) single nucleotide variant IQCB1-related disorder [RCV003908168]|Nephronophthisis [RCV000861997]|Senior-Loken syndrome 5 [RCV001144731]|not provided [RCV001701452] Chr3:121797212 [GRCh38]
Chr3:121516059 [GRCh37]
Chr3:3q13.33		 likely benign|uncertain significance
NM_001023570.4(IQCB1):c.587+38del deletion not provided [RCV001648635] Chr3:121807306 [GRCh38]
Chr3:121526153 [GRCh37]
Chr3:3q13.33		 benign
NM_001023570.4(IQCB1):c.118C>T (p.Pro40Ser) single nucleotide variant Inborn genetic diseases [RCV002551530]|Nephronophthisis [RCV001043321]|Senior-Loken syndrome 5 [RCV002481902] Chr3:121828615 [GRCh38]
Chr3:121547462 [GRCh37]
Chr3:3q13.33		 uncertain significance
NM_001023570.4(IQCB1):c.264-208A>G single nucleotide variant not provided [RCV001577657] Chr3:121826388 [GRCh38]
Chr3:121545235 [GRCh37]
Chr3:3q13.33		 likely benign
NM_001023570.4(IQCB1):c.-179G>A single nucleotide variant Senior-Loken syndrome 5 [RCV001146698] Chr3:121835043 [GRCh38]
Chr3:121553890 [GRCh37]
Chr3:3q13.33		 uncertain significance
NM_001023570.4(IQCB1):c.1509C>G (p.Ala503=) single nucleotide variant Nephronophthisis [RCV001509678]|Senior-Loken syndrome 5 [RCV001147491]|not provided [RCV004711545] Chr3:121772615 [GRCh38]
Chr3:121491462 [GRCh37]
Chr3:3q13.33		 benign|likely benign
NM_001023570.4(IQCB1):c.1194G>A (p.Trp398Ter) single nucleotide variant Leber congenital amaurosis [RCV001591797] Chr3:121788368 [GRCh38]
Chr3:121507215 [GRCh37]
Chr3:3q13.33		 pathogenic
NM_001023570.4(IQCB1):c.1335A>T (p.Arg445=) single nucleotide variant IQCB1-related disorder [RCV004756051]|Nephronophthisis [RCV000866483] Chr3:121781818 [GRCh38]
Chr3:121500665 [GRCh37]
Chr3:3q13.33		 likely benign
NM_001023570.4(IQCB1):c.392A>G (p.Lys131Arg) single nucleotide variant Nephronophthisis [RCV002539313] Chr3:121826052 [GRCh38]
Chr3:121544899 [GRCh37]
Chr3:3q13.33		 likely benign
NM_001023570.4(IQCB1):c.543A>G (p.Gly181=) single nucleotide variant Nephronophthisis [RCV000868667]|Senior-Loken syndrome 5 [RCV002501282] Chr3:121807388 [GRCh38]
Chr3:121526235 [GRCh37]
Chr3:3q13.33		 likely benign
NM_001023570.4(IQCB1):c.954A>G (p.Pro318=) single nucleotide variant not provided [RCV000925148] Chr3:121795489 [GRCh38]
Chr3:121514336 [GRCh37]
Chr3:3q13.33		 likely benign
NM_001023570.4(IQCB1):c.1311A>G (p.Lys437=) single nucleotide variant Nephronophthisis [RCV000865668]|Senior-Loken syndrome 5 [RCV001147495] Chr3:121781842 [GRCh38]
Chr3:121500689 [GRCh37]
Chr3:3q13.33		 benign|likely benign
NM_001023570.4(IQCB1):c.957T>G (p.Ser319=) single nucleotide variant not provided [RCV000964636] Chr3:121795486 [GRCh38]
Chr3:121514333 [GRCh37]
Chr3:3q13.33		 likely benign
NM_001023570.4(IQCB1):c.1552G>A (p.Val518Ile) single nucleotide variant Nephronophthisis [RCV001040839]|not specified [RCV001819749] Chr3:121772572 [GRCh38]
Chr3:121491419 [GRCh37]
Chr3:3q13.33		 uncertain significance
NM_001023570.4(IQCB1):c.880C>G (p.Leu294Val) single nucleotide variant Nephronophthisis [RCV001051409]|Senior-Loken syndrome 5 [RCV002479319] Chr3:121795563 [GRCh38]
Chr3:121514410 [GRCh37]
Chr3:3q13.33		 uncertain significance
NM_001023570.4(IQCB1):c.1657C>T (p.His553Tyr) single nucleotide variant Inborn genetic diseases [RCV003346269]|Nephronophthisis [RCV001042325] Chr3:121770485 [GRCh38]
Chr3:121489332 [GRCh37]
Chr3:3q13.33		 uncertain significance
NM_001023570.4(IQCB1):c.986+5A>C single nucleotide variant Nephronophthisis [RCV001068794] Chr3:121795452 [GRCh38]
Chr3:121514299 [GRCh37]
Chr3:3q13.33		 uncertain significance
NM_001023570.4(IQCB1):c.358A>T (p.Arg120Ter) single nucleotide variant Senior-Loken syndrome 5 [RCV000779379] Chr3:121826086 [GRCh38]
Chr3:121544933 [GRCh37]
Chr3:3q13.33		 uncertain significance
NM_001023570.4(IQCB1):c.1096T>C (p.Leu366=) single nucleotide variant not provided [RCV000874671] Chr3:121790106 [GRCh38]
Chr3:121508953 [GRCh37]
Chr3:3q13.33		 likely benign
NM_001023570.4(IQCB1):c.1470G>C (p.Leu490=) single nucleotide variant Nephronophthisis [RCV000865108] Chr3:121772654 [GRCh38]
Chr3:121491501 [GRCh37]
Chr3:3q13.33		 likely benign
NM_001023570.4(IQCB1):c.252A>G (p.Thr84=) single nucleotide variant Nephronophthisis [RCV000866751] Chr3:121828481 [GRCh38]
Chr3:121547328 [GRCh37]
Chr3:3q13.33		 likely benign
NM_001023570.4(IQCB1):c.1410+74AT[4] microsatellite Senior-Loken syndrome 5 [RCV000987307]|not provided [RCV001615092] Chr3:121781663..121781664 [GRCh38]
Chr3:121500510..121500511 [GRCh37]
Chr3:3q13.33		 benign
NM_001023570.4(IQCB1):c.782T>A (p.Leu261Gln) single nucleotide variant Nephronophthisis [RCV000813197] Chr3:121797212 [GRCh38]
Chr3:121516059 [GRCh37]
Chr3:3q13.33		 uncertain significance
NM_001023570.4(IQCB1):c.*151T>C single nucleotide variant Senior-Loken syndrome 5 [RCV001146574] Chr3:121770194 [GRCh38]
Chr3:121489041 [GRCh37]
Chr3:3q13.33		 uncertain significance
NM_001023570.4(IQCB1):c.169G>T (p.Asp57Tyr) single nucleotide variant Senior-Loken syndrome 5 [RCV001146696] Chr3:121828564 [GRCh38]
Chr3:121547411 [GRCh37]
Chr3:3q13.33		 uncertain significance
NM_001023570.4(IQCB1):c.560T>A (p.Met187Lys) single nucleotide variant Inborn genetic diseases [RCV004027591]|Nephronophthisis [RCV000797327] Chr3:121807371 [GRCh38]
Chr3:121526218 [GRCh37]
Chr3:3q13.33		 uncertain significance
NM_001023570.4(IQCB1):c.1703T>C (p.Leu568Pro) single nucleotide variant IQCB1-related disorder [RCV003965636]|Nephronophthisis [RCV000861249]|not provided [RCV004711310] Chr3:121770439 [GRCh38]
Chr3:121489286 [GRCh37]
Chr3:3q13.33		 likely benign|conflicting interpretations of pathogenicity
NM_001023570.4(IQCB1):c.264-10C>T single nucleotide variant Nephronophthisis [RCV001470048] Chr3:121826190 [GRCh38]
Chr3:121545037 [GRCh37]
Chr3:3q13.33		 likely benign
NM_001023570.4(IQCB1):c.1656C>G (p.Ala552=) single nucleotide variant Nephronophthisis [RCV002070777]|Senior-Loken syndrome 5 [RCV001146576] Chr3:121770486 [GRCh38]
Chr3:121489333 [GRCh37]
Chr3:3q13.33		 likely benign|uncertain significance
NM_001023570.4(IQCB1):c.-12-4A>T single nucleotide variant Senior-Loken syndrome 5 [RCV001146697] Chr3:121828976 [GRCh38]
Chr3:121547823 [GRCh37]
Chr3:3q13.33		 uncertain significance
NM_001023570.4(IQCB1):c.1240C>T (p.Leu414Phe) single nucleotide variant Nephronophthisis [RCV001964038] Chr3:121788322 [GRCh38]
Chr3:121507169 [GRCh37]
Chr3:3q13.33		 uncertain significance
GRCh37/hg19 3q13.33-21.1(chr3:121384741-123672180)x3 copy number gain not provided [RCV000848663] Chr3:121384741..123672180 [GRCh37]
Chr3:3q13.33-21.1		 uncertain significance
NC_000003.12:g.(?_121772557)_(121781874_?)del deletion Nephronophthisis [RCV001031216] Chr3:121491404..121500721 [GRCh37]
Chr3:3q13.33		 pathogenic
NM_001023570.4(IQCB1):c.1410+81GT[17] microsatellite Senior-Loken syndrome 5 [RCV000987306]|not provided [RCV001672989] Chr3:121781632..121781633 [GRCh38]
Chr3:121500479..121500480 [GRCh37]
Chr3:3q13.33		 benign
NM_001023570.4(IQCB1):c.952C>G (p.Pro318Ala) single nucleotide variant Nephronophthisis [RCV001237437]|Senior-Loken syndrome 5 [RCV002504331] Chr3:121795491 [GRCh38]
Chr3:121514338 [GRCh37]
Chr3:3q13.33		 uncertain significance
NM_001023570.4(IQCB1):c.493C>G (p.Gln165Glu) single nucleotide variant Nephronophthisis [RCV001209285] Chr3:121807438 [GRCh38]
Chr3:121526285 [GRCh37]
Chr3:3q13.33		 uncertain significance
NM_001023570.4(IQCB1):c.281T>G (p.Leu94Trp) single nucleotide variant Nephronophthisis [RCV001237974] Chr3:121826163 [GRCh38]
Chr3:121545010 [GRCh37]
Chr3:3q13.33		 uncertain significance
NM_001023570.4(IQCB1):c.1549A>G (p.Asn517Asp) single nucleotide variant Nephronophthisis [RCV001226748] Chr3:121772575 [GRCh38]
Chr3:121491422 [GRCh37]
Chr3:3q13.33		 uncertain significance
NM_001023570.4(IQCB1):c.68A>G (p.Gln23Arg) single nucleotide variant Nephronophthisis [RCV001241774] Chr3:121828893 [GRCh38]
Chr3:121547740 [GRCh37]
Chr3:3q13.33		 uncertain significance
NM_001023570.4(IQCB1):c.514T>A (p.Leu172Ile) single nucleotide variant Nephronophthisis [RCV001207542] Chr3:121807417 [GRCh38]
Chr3:121526264 [GRCh37]
Chr3:3q13.33		 uncertain significance
NM_001023570.4(IQCB1):c.1150C>T (p.Arg384Trp) single nucleotide variant Nephronophthisis [RCV002032393]|Senior-Loken syndrome 5 [RCV001150846] Chr3:121788412 [GRCh38]
Chr3:121507259 [GRCh37]
Chr3:3q13.33		 uncertain significance
NM_001023570.4(IQCB1):c.153A>C (p.Gln51His) single nucleotide variant Nephronophthisis [RCV001229991] Chr3:121828580 [GRCh38]
Chr3:121547427 [GRCh37]
Chr3:3q13.33		 uncertain significance
NM_001023570.4(IQCB1):c.877-59_877-58dup duplication not provided [RCV001581935] Chr3:121795611..121795612 [GRCh38]
Chr3:121514458..121514459 [GRCh37]
Chr3:3q13.33		 likely benign
NM_001023570.4(IQCB1):c.877-59dup duplication not provided [RCV001715538] Chr3:121795611..121795612 [GRCh38]
Chr3:121514458..121514459 [GRCh37]
Chr3:3q13.33		 benign
NM_001023570.4(IQCB1):c.987-318T>C single nucleotide variant not provided [RCV001690518] Chr3:121790533 [GRCh38]
Chr3:121509380 [GRCh37]
Chr3:3q13.33		 benign
NM_001023570.4(IQCB1):c.101-47G>A single nucleotide variant not provided [RCV001561448] Chr3:121828679 [GRCh38]
Chr3:121547526 [GRCh37]
Chr3:3q13.33		 likely benign
NM_001023570.4(IQCB1):c.1129+81A>T single nucleotide variant not provided [RCV001693702] Chr3:121789992 [GRCh38]
Chr3:121508839 [GRCh37]
Chr3:3q13.33		 benign
NM_001023570.4(IQCB1):c.876+13dup duplication not provided [RCV001677497] Chr3:121797093..121797094 [GRCh38]
Chr3:121515940..121515941 [GRCh37]
Chr3:3q13.33		 benign
NM_001023570.4(IQCB1):c.1410+81GT[16] microsatellite not provided [RCV001689036] Chr3:121781632..121781633 [GRCh38]
Chr3:121500479..121500480 [GRCh37]
Chr3:3q13.33		 benign
NM_001023570.4(IQCB1):c.588-94C>T single nucleotide variant not provided [RCV001693839] Chr3:121799468 [GRCh38]
Chr3:121518315 [GRCh37]
Chr3:3q13.33		 benign
NM_001023570.4(IQCB1):c.394-61_394-60dup duplication not provided [RCV001565550] Chr3:121809056..121809057 [GRCh38]
Chr3:121527903..121527904 [GRCh37]
Chr3:3q13.33		 likely benign
NM_001023570.4(IQCB1):c.-12-43C>T single nucleotide variant not provided [RCV001710908] Chr3:121829015 [GRCh38]
Chr3:121547862 [GRCh37]
Chr3:3q13.33		 benign
NM_001023570.4(IQCB1):c.1410+81GT[18] microsatellite not provided [RCV001694689] Chr3:121781632..121781633 [GRCh38]
Chr3:121500479..121500480 [GRCh37]
Chr3:3q13.33		 benign
NM_001023570.4(IQCB1):c.1410+81GT[13] microsatellite not provided [RCV001687760] Chr3:121781633..121781636 [GRCh38]
Chr3:121500480..121500483 [GRCh37]
Chr3:3q13.33		 benign
NM_001023570.4(IQCB1):c.394-48del deletion not provided [RCV001653450] Chr3:121809057 [GRCh38]
Chr3:121527904 [GRCh37]
Chr3:3q13.33		 benign
NM_001023570.4(IQCB1):c.394-61dup duplication not provided [RCV001673693] Chr3:121809056..121809057 [GRCh38]
Chr3:121527903..121527904 [GRCh37]
Chr3:3q13.33		 benign
NM_001023570.4(IQCB1):c.1278+9A>G single nucleotide variant Nephronophthisis [RCV002536750]|Senior-Loken syndrome 5 [RCV002501264] Chr3:121788275 [GRCh38]
Chr3:121507122 [GRCh37]
Chr3:3q13.33		 likely benign
NM_001023570.4(IQCB1):c.588-10G>T single nucleotide variant not provided [RCV000948656] Chr3:121799384 [GRCh38]
Chr3:121518231 [GRCh37]
Chr3:3q13.33		 benign
NM_001023570.4(IQCB1):c.1151G>A (p.Arg384Gln) single nucleotide variant Nephronophthisis [RCV001238712]|Senior-Loken syndrome 5 [RCV002480781]|not provided [RCV004692280] Chr3:121788411 [GRCh38]
Chr3:121507258 [GRCh37]
Chr3:3q13.33		 uncertain significance
NM_001023570.4(IQCB1):c.919_920insC (p.Gly307fs) insertion Nephronophthisis [RCV001241957]|Senior-Loken syndrome 5 [RCV003462817] Chr3:121795523..121795524 [GRCh38]
Chr3:121514370..121514371 [GRCh37]
Chr3:3q13.33		 pathogenic
NM_001023570.4(IQCB1):c.791A>C (p.Gln264Pro) single nucleotide variant Senior-Loken syndrome 5 [RCV001144730] Chr3:121797203 [GRCh38]
Chr3:121516050 [GRCh37]
Chr3:3q13.33		 uncertain significance
NM_001023570.4(IQCB1):c.16A>G (p.Thr6Ala) single nucleotide variant Nephronophthisis [RCV001230091] Chr3:121828945 [GRCh38]
Chr3:121547792 [GRCh37]
Chr3:3q13.33		 uncertain significance
NM_001023570.4(IQCB1):c.1203C>G (p.Tyr401Ter) single nucleotide variant Retinal dystrophy [RCV004814236] Chr3:121788359 [GRCh38]
Chr3:121507206 [GRCh37]
Chr3:3q13.33		 pathogenic
NM_001023570.4(IQCB1):c.1130-271del deletion not provided [RCV001556786] Chr3:121788703 [GRCh38]
Chr3:121507550 [GRCh37]
Chr3:3q13.33		 likely benign
NM_001023570.4(IQCB1):c.877-43del deletion not provided [RCV001558872] Chr3:121795609 [GRCh38]
Chr3:121514456 [GRCh37]
Chr3:3q13.33		 likely benign
NM_001023570.4(IQCB1):c.767-228_767-226del deletion not provided [RCV001669489] Chr3:121797453..121797455 [GRCh38]
Chr3:121516300..121516302 [GRCh37]
Chr3:3q13.33		 benign
NM_001023570.4(IQCB1):c.446T>C (p.Leu149Pro) single nucleotide variant Nephronophthisis [RCV001043951] Chr3:121808957 [GRCh38]
Chr3:121527804 [GRCh37]
Chr3:3q13.33		 uncertain significance
NM_001023570.4(IQCB1):c.766+210C>T single nucleotide variant not provided [RCV001620810] Chr3:121798986 [GRCh38]
Chr3:121517833 [GRCh37]
Chr3:3q13.33		 benign
NM_001023570.4(IQCB1):c.587+92T>C single nucleotide variant not provided [RCV001677287] Chr3:121807252 [GRCh38]
Chr3:121526099 [GRCh37]
Chr3:3q13.33		 benign
NM_001023570.4(IQCB1):c.1410+81GT[14] microsatellite not provided [RCV001657331] Chr3:121781633..121781634 [GRCh38]
Chr3:121500480..121500481 [GRCh37]
Chr3:3q13.33		 benign
NM_001023570.4(IQCB1):c.1410+287T>G single nucleotide variant not provided [RCV001689172] Chr3:121781456 [GRCh38]
Chr3:121500303 [GRCh37]
Chr3:3q13.33		 benign
NM_001023570.4(IQCB1):c.877-46del deletion not provided [RCV001715354] Chr3:121795612 [GRCh38]
Chr3:121514459 [GRCh37]
Chr3:3q13.33		 benign
NM_001023570.4(IQCB1):c.987-312A>G single nucleotide variant not provided [RCV001673650] Chr3:121790527 [GRCh38]
Chr3:121509374 [GRCh37]
Chr3:3q13.33		 benign
NM_001023570.4(IQCB1):c.767-238dup duplication not provided [RCV001710794] Chr3:121797452..121797453 [GRCh38]
Chr3:121516299..121516300 [GRCh37]
Chr3:3q13.33		 benign
NM_001023570.4(IQCB1):c.1567+292C>G single nucleotide variant not provided [RCV001617938] Chr3:121772265 [GRCh38]
Chr3:121491112 [GRCh37]
Chr3:3q13.33		 benign
NM_001023570.4(IQCB1):c.487+176C>T single nucleotide variant not provided [RCV001687124] Chr3:121808740 [GRCh38]
Chr3:121527587 [GRCh37]
Chr3:3q13.33		 benign
NM_001023570.4(IQCB1):c.767-262del deletion not provided [RCV001614985] Chr3:121797489 [GRCh38]
Chr3:121516336 [GRCh37]
Chr3:3q13.33		 benign
NM_001023570.4(IQCB1):c.487+244T>A single nucleotide variant not provided [RCV001686863] Chr3:121808672 [GRCh38]
Chr3:121527519 [GRCh37]
Chr3:3q13.33		 benign
NM_001023570.4(IQCB1):c.*218G>A single nucleotide variant Senior-Loken syndrome 5 [RCV001144639] Chr3:121770127 [GRCh38]
Chr3:121488974 [GRCh37]
Chr3:3q13.33		 uncertain significance
NM_001023570.4(IQCB1):c.488-1G>A single nucleotide variant Senior-Loken syndrome 5 [RCV001002717] Chr3:121807444 [GRCh38]
Chr3:121526291 [GRCh37]
Chr3:3q13.33		 pathogenic
NM_001023570.4(IQCB1):c.487+83G>A single nucleotide variant not provided [RCV001588443] Chr3:121808833 [GRCh38]
Chr3:121527680 [GRCh37]
Chr3:3q13.33		 likely benign
NM_001023570.4(IQCB1):c.1130-136G>A single nucleotide variant not provided [RCV001695835] Chr3:121788568 [GRCh38]
Chr3:121507415 [GRCh37]
Chr3:3q13.33		 benign
Single allele deletion Deafness-lymphedema-leukemia syndrome [RCV001541924] Chr3:120247726..128319968 [GRCh37]
Chr3:3q13.33-21.3		 pathogenic
NM_001023570.4(IQCB1):c.1130-98_1130-93del deletion not provided [RCV001691290] Chr3:121788525..121788530 [GRCh38]
Chr3:121507372..121507377 [GRCh37]
Chr3:3q13.33		 benign
NM_001023570.4(IQCB1):c.587+84G>A single nucleotide variant not provided [RCV001710469] Chr3:121807260 [GRCh38]
Chr3:121526107 [GRCh37]
Chr3:3q13.33		 benign
NM_001023570.4(IQCB1):c.488-91C>T single nucleotide variant not provided [RCV001680269] Chr3:121807534 [GRCh38]
Chr3:121526381 [GRCh37]
Chr3:3q13.33		 benign
NM_001023570.4(IQCB1):c.1568-191G>T single nucleotide variant not provided [RCV001640991] Chr3:121770765 [GRCh38]
Chr3:121489612 [GRCh37]
Chr3:3q13.33		 benign
NM_001023570.4(IQCB1):c.876+238A>G single nucleotide variant not provided [RCV001581001] Chr3:121796880 [GRCh38]
Chr3:121515727 [GRCh37]
Chr3:3q13.33		 likely benign
NM_001023570.4(IQCB1):c.1410+81GT[8] microsatellite not provided [RCV001714036] Chr3:121781633..121781646 [GRCh38]
Chr3:121500480..121500493 [GRCh37]
Chr3:3q13.33		 benign
NM_001023570.4(IQCB1):c.*399A>G single nucleotide variant Senior-Loken syndrome 5 [RCV001144637] Chr3:121769946 [GRCh38]
Chr3:121488793 [GRCh37]
Chr3:3q13.33		 uncertain significance
NM_001023570.4(IQCB1):c.*327T>C single nucleotide variant Senior-Loken syndrome 5 [RCV001144638] Chr3:121770018 [GRCh38]
Chr3:121488865 [GRCh37]
Chr3:3q13.33		 uncertain significance
NM_001023570.4(IQCB1):c.1466G>A (p.Arg489Gln) single nucleotide variant Inborn genetic diseases [RCV003243418]|Nephronophthisis [RCV001041746]|Senior-Loken syndrome 5 [RCV001147492] Chr3:121772658 [GRCh38]
Chr3:121491505 [GRCh37]
Chr3:3q13.33		 likely benign|uncertain significance
NM_001023570.4(IQCB1):c.1240C>G (p.Leu414Val) single nucleotide variant Nephronophthisis [RCV001056552] Chr3:121788322 [GRCh38]
Chr3:121507169 [GRCh37]
Chr3:3q13.33		 uncertain significance
NM_001023570.4(IQCB1):c.1153G>C (p.Glu385Gln) single nucleotide variant Nephronophthisis [RCV001247387]|Senior-Loken syndrome 5 [RCV002480847] Chr3:121788409 [GRCh38]
Chr3:121507256 [GRCh37]
Chr3:3q13.33		 uncertain significance
NM_001023570.4(IQCB1):c.1108dup (p.Met370fs) duplication Renal dysplasia and retinal aplasia [RCV001003060] Chr3:121790093..121790094 [GRCh38]
Chr3:121508940..121508941 [GRCh37]
Chr3:3q13.33		 pathogenic
NM_001023570.4(IQCB1):c.1280C>T (p.Ala427Val) single nucleotide variant Nephronophthisis [RCV001234410] Chr3:121781873 [GRCh38]
Chr3:121500720 [GRCh37]
Chr3:3q13.33		 uncertain significance
NM_001023570.4(IQCB1):c.1675C>G (p.His559Asp) single nucleotide variant Nephronophthisis [RCV001207876] Chr3:121770467 [GRCh38]
Chr3:121489314 [GRCh37]
Chr3:3q13.33		 uncertain significance
NM_001023570.4(IQCB1):c.1567+5del deletion Nephronophthisis [RCV001058653] Chr3:121772552 [GRCh38]
Chr3:121491399 [GRCh37]
Chr3:3q13.33		 uncertain significance
NM_001023570.4(IQCB1):c.1420A>G (p.Met474Val) single nucleotide variant Nephronophthisis [RCV001235314]|Senior-Loken syndrome 5 [RCV002491759]|not provided [RCV004692274] Chr3:121772704 [GRCh38]
Chr3:121491551 [GRCh37]
Chr3:3q13.33		 uncertain significance
NM_001023570.4(IQCB1):c.1274G>A (p.Arg425Lys) single nucleotide variant Nephronophthisis [RCV001212110] Chr3:121788288 [GRCh38]
Chr3:121507135 [GRCh37]
Chr3:3q13.33		 uncertain significance
NM_001023570.4(IQCB1):c.157A>G (p.Ile53Val) single nucleotide variant Nephronophthisis [RCV001229659]|Senior-Loken syndrome 5 [RCV002491730] Chr3:121828576 [GRCh38]
Chr3:121547423 [GRCh37]
Chr3:3q13.33		 uncertain significance
NM_001023570.4(IQCB1):c.245A>G (p.Gln82Arg) single nucleotide variant Nephronophthisis [RCV001247313] Chr3:121828488 [GRCh38]
Chr3:121547335 [GRCh37]
Chr3:3q13.33		 uncertain significance
NM_001023570.4(IQCB1):c.532G>A (p.Val178Ile) single nucleotide variant Nephronophthisis [RCV001247414]|Senior-Loken syndrome 5 [RCV002480848] Chr3:121807399 [GRCh38]
Chr3:121526246 [GRCh37]
Chr3:3q13.33		 uncertain significance
NM_001023570.4(IQCB1):c.862G>T (p.Glu288Ter) single nucleotide variant Nephronophthisis [RCV001212634]|Senior-Loken syndrome 5 [RCV003462714] Chr3:121797132 [GRCh38]
Chr3:121515979 [GRCh37]
Chr3:3q13.33		 pathogenic|likely pathogenic
NM_001023570.4(IQCB1):c.*160C>T single nucleotide variant Senior-Loken syndrome 5 [RCV001146573] Chr3:121770185 [GRCh38]
Chr3:121489032 [GRCh37]
Chr3:3q13.33		 uncertain significance
NM_001023570.4(IQCB1):c.*148T>C single nucleotide variant Senior-Loken syndrome 5 [RCV001146575] Chr3:121770197 [GRCh38]
Chr3:121489044 [GRCh37]
Chr3:3q13.33		 uncertain significance
NM_001023570.4(IQCB1):c.1235A>T (p.Gln412Leu) single nucleotide variant Nephronophthisis [RCV001231036] Chr3:121788327 [GRCh38]
Chr3:121507174 [GRCh37]
Chr3:3q13.33		 uncertain significance
NM_001023570.4(IQCB1):c.1393T>C (p.Tyr465His) single nucleotide variant Nephronophthisis [RCV002032375]|Senior-Loken syndrome 5 [RCV001147494] Chr3:121781760 [GRCh38]
Chr3:121500607 [GRCh37]
Chr3:3q13.33		 benign|uncertain significance
NM_001023570.4(IQCB1):c.983dup (p.Arg329fs) duplication Senior-Loken syndrome 5 [RCV003469292]|not provided [RCV001093168] Chr3:121795459..121795460 [GRCh38]
Chr3:121514306..121514307 [GRCh37]
Chr3:3q13.33		 pathogenic|likely pathogenic
NM_001023570.4(IQCB1):c.812del (p.Ser271fs) deletion Leber congenital amaurosis [RCV001199693]|not provided [RCV001093169] Chr3:121797182 [GRCh38]
Chr3:121516029 [GRCh37]
Chr3:3q13.33		 pathogenic
NM_001023570.4(IQCB1):c.180A>G (p.Gln60=) single nucleotide variant Nephronophthisis [RCV001348428] Chr3:121828553 [GRCh38]
Chr3:121547400 [GRCh37]
Chr3:3q13.33		 likely benign|uncertain significance
NM_001023570.4(IQCB1):c.1129+90T>A single nucleotide variant not provided [RCV001537283] Chr3:121789983 [GRCh38]
Chr3:121508830 [GRCh37]
Chr3:3q13.33		 benign
NM_001023570.4(IQCB1):c.704T>A (p.Leu235Gln) single nucleotide variant Nephronophthisis [RCV001907971] Chr3:121799258 [GRCh38]
Chr3:121518105 [GRCh37]
Chr3:3q13.33		 uncertain significance
NM_001023570.4(IQCB1):c.1741G>C (p.Asp581His) single nucleotide variant Nephronophthisis [RCV001306716]|Senior-Loken syndrome 5 [RCV002499581] Chr3:121770401 [GRCh38]
Chr3:121489248 [GRCh37]
Chr3:3q13.33		 uncertain significance
NM_001023570.4(IQCB1):c.1319T>C (p.Leu440Pro) single nucleotide variant Nephronophthisis [RCV001351146]|Senior-Loken syndrome 5 [RCV002476614] Chr3:121781834 [GRCh38]
Chr3:121500681 [GRCh37]
Chr3:3q13.33		 uncertain significance
NM_001023570.4(IQCB1):c.1226A>G (p.Gln409Arg) single nucleotide variant Nephronophthisis [RCV001340073] Chr3:121788336 [GRCh38]
Chr3:121507183 [GRCh37]
Chr3:3q13.33		 uncertain significance
NM_001023570.4(IQCB1):c.758del (p.Cys253fs) deletion Nephronophthisis [RCV001328085]|Senior-Loken syndrome 5 [RCV003462849] Chr3:121799204 [GRCh38]
Chr3:121518051 [GRCh37]
Chr3:3q13.33		 pathogenic|likely pathogenic
NM_001023570.4(IQCB1):c.214C>G (p.Arg72Gly) single nucleotide variant Nephronophthisis [RCV001342780]|Senior-Loken syndrome 5 [RCV002486389] Chr3:121828519 [GRCh38]
Chr3:121547366 [GRCh37]
Chr3:3q13.33		 uncertain significance
NM_001023570.4(IQCB1):c.1280C>A (p.Ala427Glu) single nucleotide variant Nephronophthisis [RCV001343965] Chr3:121781873 [GRCh38]
Chr3:121500720 [GRCh37]
Chr3:3q13.33		 uncertain significance
NM_001023570.4(IQCB1):c.1000A>G (p.Lys334Glu) single nucleotide variant Nephronophthisis [RCV001362287] Chr3:121790202 [GRCh38]
Chr3:121509049 [GRCh37]
Chr3:3q13.33		 uncertain significance
NM_001023570.4(IQCB1):c.1769T>G (p.Leu590Ter) single nucleotide variant Nephronophthisis [RCV001338271] Chr3:121770373 [GRCh38]
Chr3:121489220 [GRCh37]
Chr3:3q13.33		 uncertain significance
NM_001023570.4(IQCB1):c.1573C>A (p.Pro525Thr) single nucleotide variant Nephronophthisis [RCV001298074] Chr3:121770569 [GRCh38]
Chr3:121489416 [GRCh37]
Chr3:3q13.33		 uncertain significance
NM_001023570.4(IQCB1):c.1324G>T (p.Ala442Ser) single nucleotide variant Inborn genetic diseases [RCV002541855]|Nephronophthisis [RCV001298206]|Senior-Loken syndrome 5 [RCV002486142] Chr3:121781829 [GRCh38]
Chr3:121500676 [GRCh37]
Chr3:3q13.33		 uncertain significance
NM_001023570.4(IQCB1):c.30C>A (p.Ile10=) single nucleotide variant Nephronophthisis [RCV001433904] Chr3:121828931 [GRCh38]
Chr3:121547778 [GRCh37]
Chr3:3q13.33		 likely benign
NM_001023570.4(IQCB1):c.1567+3A>G single nucleotide variant Nephronophthisis [RCV001294728]|Senior-Loken syndrome 5 [RCV002486111] Chr3:121772554 [GRCh38]
Chr3:121491401 [GRCh37]
Chr3:3q13.33		 uncertain significance
NM_001023570.4(IQCB1):c.413T>G (p.Leu138Ter) single nucleotide variant Senior-Loken syndrome 5 [RCV001376428] Chr3:121808990 [GRCh38]
Chr3:121527837 [GRCh37]
Chr3:3q13.33		 likely pathogenic
NM_001023570.4(IQCB1):c.1491G>T (p.Arg497Ser) single nucleotide variant Nephronophthisis [RCV001294679] Chr3:121772633 [GRCh38]
Chr3:121491480 [GRCh37]
Chr3:3q13.33		 uncertain significance
NM_001023570.4(IQCB1):c.911A>G (p.Tyr304Cys) single nucleotide variant Nephronophthisis [RCV001360554] Chr3:121795532 [GRCh38]
Chr3:121514379 [GRCh37]
Chr3:3q13.33		 uncertain significance
NM_001023570.4(IQCB1):c.369A>T (p.Gln123His) single nucleotide variant Nephronophthisis [RCV001361024] Chr3:121826075 [GRCh38]
Chr3:121544922 [GRCh37]
Chr3:3q13.33		 uncertain significance
NM_001023570.4(IQCB1):c.385G>C (p.Ala129Pro) single nucleotide variant Nephronophthisis [RCV001323274] Chr3:121826059 [GRCh38]
Chr3:121544906 [GRCh37]
Chr3:3q13.33		 uncertain significance
NM_001023570.4(IQCB1):c.580A>T (p.Ile194Phe) single nucleotide variant Inborn genetic diseases [RCV002546968]|Nephronophthisis [RCV001342694]|Senior-Loken syndrome 5 [RCV002499680] Chr3:121807351 [GRCh38]
Chr3:121526198 [GRCh37]
Chr3:3q13.33		 uncertain significance
NM_001023570.4(IQCB1):c.766+5T>C single nucleotide variant Nephronophthisis [RCV001370165] Chr3:121799191 [GRCh38]
Chr3:121518038 [GRCh37]
Chr3:3q13.33		 uncertain significance
NM_001023570.4(IQCB1):c.1681C>G (p.Gln561Glu) single nucleotide variant Nephronophthisis [RCV001317187] Chr3:121770461 [GRCh38]
Chr3:121489308 [GRCh37]
Chr3:3q13.33		 uncertain significance
NM_001023570.4(IQCB1):c.314A>G (p.Asn105Ser) single nucleotide variant Nephronophthisis [RCV001347922] Chr3:121826130 [GRCh38]
Chr3:121544977 [GRCh37]
Chr3:3q13.33		 uncertain significance
NM_001023570.4(IQCB1):c.491T>C (p.Leu164Pro) single nucleotide variant Nephronophthisis [RCV001348306]|Senior-Loken syndrome 5 [RCV002499699] Chr3:121807440 [GRCh38]
Chr3:121526287 [GRCh37]
Chr3:3q13.33		 uncertain significance
NM_001023570.4(IQCB1):c.64G>C (p.Glu22Gln) single nucleotide variant Nephronophthisis [RCV001362536] Chr3:121828897 [GRCh38]
Chr3:121547744 [GRCh37]
Chr3:3q13.33		 uncertain significance
NM_001023570.4(IQCB1):c.1594G>A (p.Gly532Arg) single nucleotide variant Nephronophthisis [RCV001366208]|Senior-Loken syndrome 5 [RCV002476671] Chr3:121770548 [GRCh38]
Chr3:121489395 [GRCh37]
Chr3:3q13.33		 uncertain significance
NM_001023570.4(IQCB1):c.1123C>A (p.His375Asn) single nucleotide variant Nephronophthisis [RCV001299471]|Senior-Loken syndrome 5 [RCV002476389] Chr3:121790079 [GRCh38]
Chr3:121508926 [GRCh37]
Chr3:3q13.33		 uncertain significance
NM_001023570.4(IQCB1):c.1667C>T (p.Thr556Ile) single nucleotide variant Nephronophthisis [RCV001360457] Chr3:121770475 [GRCh38]
Chr3:121489322 [GRCh37]
Chr3:3q13.33		 uncertain significance
NM_001023570.4(IQCB1):c.1093G>A (p.Glu365Lys) single nucleotide variant Nephronophthisis [RCV001307337] Chr3:121790109 [GRCh38]
Chr3:121508956 [GRCh37]
Chr3:3q13.33		 uncertain significance
NM_001023570.4(IQCB1):c.1250A>T (p.Tyr417Phe) single nucleotide variant Inborn genetic diseases [RCV003264015]|Nephronophthisis [RCV001366951]|Senior-Loken syndrome 5 [RCV002493872] Chr3:121788312 [GRCh38]
Chr3:121507159 [GRCh37]
Chr3:3q13.33		 uncertain significance
NM_001023570.4(IQCB1):c.539T>C (p.Ile180Thr) single nucleotide variant Nephronophthisis [RCV001351582] Chr3:121807392 [GRCh38]
Chr3:121526239 [GRCh37]
Chr3:3q13.33		 uncertain significance
NM_001023570.4(IQCB1):c.295G>A (p.Asp99Asn) single nucleotide variant Nephronophthisis [RCV001365788] Chr3:121826149 [GRCh38]
Chr3:121544996 [GRCh37]
Chr3:3q13.33		 uncertain significance
NM_001023570.4(IQCB1):c.884A>G (p.His295Arg) single nucleotide variant Nephronophthisis [RCV001295681]|Senior-Loken syndrome 5 [RCV002480947] Chr3:121795559 [GRCh38]
Chr3:121514406 [GRCh37]
Chr3:3q13.33		 uncertain significance
NM_001023570.4(IQCB1):c.877-8C>G single nucleotide variant IQCB1-related disorder [RCV003973222]|Nephronophthisis [RCV001369701] Chr3:121795574 [GRCh38]
Chr3:121514421 [GRCh37]
Chr3:3q13.33		 uncertain significance
NM_001023570.4(IQCB1):c.490del (p.Leu164fs) deletion Nephronophthisis [RCV001387062] Chr3:121807441 [GRCh38]
Chr3:121526288 [GRCh37]
Chr3:3q13.33		 pathogenic
NM_001023570.4(IQCB1):c.1054T>C (p.Leu352=) single nucleotide variant Nephronophthisis [RCV001458516] Chr3:121790148 [GRCh38]
Chr3:121508995 [GRCh37]
Chr3:3q13.33		 likely benign
NM_001023570.4(IQCB1):c.767-12A>G single nucleotide variant Nephronophthisis [RCV001499620]|Senior-Loken syndrome 5 [RCV002501720] Chr3:121797239 [GRCh38]
Chr3:121516086 [GRCh37]
Chr3:3q13.33		 likely benign
NM_001023570.4(IQCB1):c.1167A>G (p.Lys389=) single nucleotide variant Nephronophthisis [RCV001473665] Chr3:121788395 [GRCh38]
Chr3:121507242 [GRCh37]
Chr3:3q13.33		 likely benign
NM_001023570.4(IQCB1):c.588-25dup duplication Nephronophthisis [RCV001520947]|Senior-Loken syndrome 5 [RCV002495830] Chr3:121799389..121799390 [GRCh38]
Chr3:121518236..121518237 [GRCh37]
Chr3:3q13.33		 benign|likely benign
NM_001023570.4(IQCB1):c.1191T>C (p.His397=) single nucleotide variant IQCB1-related disorder [RCV003920990]|Nephronophthisis [RCV001467503]|not provided [RCV004711667] Chr3:121788371 [GRCh38]
Chr3:121507218 [GRCh37]
Chr3:3q13.33		 likely benign
NM_001023570.4(IQCB1):c.987-17C>T single nucleotide variant Nephronophthisis [RCV001517031]|Senior-Loken syndrome 5 [RCV002495806] Chr3:121790232 [GRCh38]
Chr3:121509079 [GRCh37]
Chr3:3q13.33		 benign|likely benign
NM_001023570.4(IQCB1):c.804T>G (p.Thr268=) single nucleotide variant Nephronophthisis [RCV001477068] Chr3:121797190 [GRCh38]
Chr3:121516037 [GRCh37]
Chr3:3q13.33		 likely benign
NM_001023570.4(IQCB1):c.1130-14dup duplication Nephronophthisis [RCV001466482] Chr3:121788445..121788446 [GRCh38]
Chr3:121507292..121507293 [GRCh37]
Chr3:3q13.33		 likely benign
NM_001023570.4(IQCB1):c.1608G>A (p.Glu536=) single nucleotide variant Nephronophthisis [RCV001492893] Chr3:121770534 [GRCh38]
Chr3:121489381 [GRCh37]
Chr3:3q13.33		 likely benign
NM_001023570.4(IQCB1):c.776G>A (p.Arg259His) single nucleotide variant IQCB1-related disorder [RCV003940912]|Nephronophthisis [RCV001513685] Chr3:121797218 [GRCh38]
Chr3:121516065 [GRCh37]
Chr3:3q13.33		 benign|likely benign
NM_001023570.4(IQCB1):c.1281G>A (p.Ala427=) single nucleotide variant Nephronophthisis [RCV001463882]|Senior-Loken syndrome 5 [RCV002495672] Chr3:121781872 [GRCh38]
Chr3:121500719 [GRCh37]
Chr3:3q13.33		 likely benign
NM_001023570.4(IQCB1):c.259T>C (p.Leu87=) single nucleotide variant Nephronophthisis [RCV001472722] Chr3:121828474 [GRCh38]
Chr3:121547321 [GRCh37]
Chr3:3q13.33		 likely benign
NM_001023570.4(IQCB1):c.1446C>A (p.Leu482=) single nucleotide variant Nephronophthisis [RCV001412076]|Senior-Loken syndrome 5 [RCV002488228] Chr3:121772678 [GRCh38]
Chr3:121491525 [GRCh37]
Chr3:3q13.33		 likely benign
NC_000003.11:g.(?_121491404)_(121500721_?)dup duplication Nephronophthisis [RCV001377964] Chr3:121491404..121500721 [GRCh37]
Chr3:3q13.33		 likely pathogenic
NM_001023570.4(IQCB1):c.1296G>A (p.Ala432=) single nucleotide variant Nephronophthisis [RCV001407779] Chr3:121781857 [GRCh38]
Chr3:121500704 [GRCh37]
Chr3:3q13.33		 likely benign
NM_001023570.4(IQCB1):c.1210A>C (p.Arg404=) single nucleotide variant Nephronophthisis [RCV001410762] Chr3:121788352 [GRCh38]
Chr3:121507199 [GRCh37]
Chr3:3q13.33		 likely benign
NM_001023570.4(IQCB1):c.1129+17A>G single nucleotide variant Nephronophthisis [RCV001411202] Chr3:121790056 [GRCh38]
Chr3:121508903 [GRCh37]
Chr3:3q13.33		 likely benign
NM_001023570.4(IQCB1):c.894A>G (p.Ala298=) single nucleotide variant Nephronophthisis [RCV001448500] Chr3:121795549 [GRCh38]
Chr3:121514396 [GRCh37]
Chr3:3q13.33		 likely benign
NM_001023570.4(IQCB1):c.1215A>G (p.Lys405=) single nucleotide variant Nephronophthisis [RCV001409127] Chr3:121788347 [GRCh38]
Chr3:121507194 [GRCh37]
Chr3:3q13.33		 likely benign
NM_001023570.4(IQCB1):c.1411-249_1411-248del microsatellite not provided [RCV001655390] Chr3:121772961..121772962 [GRCh38]
Chr3:121491808..121491809 [GRCh37]
Chr3:3q13.33		 benign
NM_001023570.4(IQCB1):c.1746G>A (p.Glu582=) single nucleotide variant IQCB1-related disorder [RCV004756253]|Nephronophthisis [RCV001478893] Chr3:121770396 [GRCh38]
Chr3:121489243 [GRCh37]
Chr3:3q13.33		 likely benign
NM_001023570.4(IQCB1):c.1368T>G (p.Val456=) single nucleotide variant Nephronophthisis [RCV001482249] Chr3:121781785 [GRCh38]
Chr3:121500632 [GRCh37]
Chr3:3q13.33		 likely benign
NM_001023570.4(IQCB1):c.31T>C (p.Leu11=) single nucleotide variant Nephronophthisis [RCV001469656] Chr3:121828930 [GRCh38]
Chr3:121547777 [GRCh37]
Chr3:3q13.33		 likely benign
NM_001023570.4(IQCB1):c.587+11T>G single nucleotide variant Nephronophthisis [RCV001469668] Chr3:121807333 [GRCh38]
Chr3:121526180 [GRCh37]
Chr3:3q13.33		 likely benign
NM_001023570.4(IQCB1):c.1410+79_1410+80insA insertion not provided [RCV001665336] Chr3:121781663..121781664 [GRCh38]
Chr3:121500510..121500511 [GRCh37]
Chr3:3q13.33		 likely benign
NM_001023570.4(IQCB1):c.588-5A>G single nucleotide variant Nephronophthisis [RCV001512333] Chr3:121799379 [GRCh38]
Chr3:121518226 [GRCh37]
Chr3:3q13.33		 benign
NM_001023570.4(IQCB1):c.767-227_767-226del deletion not provided [RCV001617836] Chr3:121797453..121797454 [GRCh38]
Chr3:121516300..121516301 [GRCh37]
Chr3:3q13.33		 benign
NM_001023570.4(IQCB1):c.264-17T>C single nucleotide variant Nephronophthisis [RCV001453415] Chr3:121826197 [GRCh38]
Chr3:121545044 [GRCh37]
Chr3:3q13.33		 likely benign
NM_001023570.4(IQCB1):c.846C>T (p.Ser282=) single nucleotide variant Nephronophthisis [RCV001456788] Chr3:121797148 [GRCh38]
Chr3:121515995 [GRCh37]
Chr3:3q13.33		 likely benign
NM_001023570.4(IQCB1):c.1130-287dup duplication not provided [RCV001590113] Chr3:121788702..121788703 [GRCh38]
Chr3:121507549..121507550 [GRCh37]
Chr3:3q13.33		 likely benign
NM_001023570.4(IQCB1):c.162T>C (p.Tyr54=) single nucleotide variant Nephronophthisis [RCV001478066]|Senior-Loken syndrome 5 [RCV002506552] Chr3:121828571 [GRCh38]
Chr3:121547418 [GRCh37]
Chr3:3q13.33		 likely benign
NM_001023570.4(IQCB1):c.488-7C>G single nucleotide variant Nephronophthisis [RCV001481212] Chr3:121807450 [GRCh38]
Chr3:121526297 [GRCh37]
Chr3:3q13.33		 likely benign
NM_001023570.4(IQCB1):c.587+154A>C single nucleotide variant not provided [RCV001645033] Chr3:121807190 [GRCh38]
Chr3:121526037 [GRCh37]
Chr3:3q13.33		 benign
NM_001023570.4(IQCB1):c.877-47_877-46del deletion not provided [RCV001708865] Chr3:121795612..121795613 [GRCh38]
Chr3:121514459..121514460 [GRCh37]
Chr3:3q13.33		 benign
NM_001023570.4(IQCB1):c.1050A>G (p.Leu350=) single nucleotide variant Nephronophthisis [RCV001464788] Chr3:121790152 [GRCh38]
Chr3:121508999 [GRCh37]
Chr3:3q13.33		 likely benign
NM_001023570.4(IQCB1):c.393+15A>G single nucleotide variant Nephronophthisis [RCV001423256] Chr3:121826036 [GRCh38]
Chr3:121544883 [GRCh37]
Chr3:3q13.33		 likely benign
NM_001023570.4(IQCB1):c.588-16del deletion Nephronophthisis [RCV001511453] Chr3:121799390 [GRCh38]
Chr3:121518237 [GRCh37]
Chr3:3q13.33		 benign
NM_001023570.4(IQCB1):c.1130-11C>A single nucleotide variant Nephronophthisis [RCV001483672] Chr3:121788443 [GRCh38]
Chr3:121507290 [GRCh37]
Chr3:3q13.33		 likely benign
NM_001023570.4(IQCB1):c.101-9T>A single nucleotide variant IQCB1-related disorder [RCV003938854]|Nephronophthisis [RCV001479440] Chr3:121828641 [GRCh38]
Chr3:121547488 [GRCh37]
Chr3:3q13.33		 likely benign
NM_001023570.4(IQCB1):c.1689C>T (p.Pro563=) single nucleotide variant Nephronophthisis [RCV001484048] Chr3:121770453 [GRCh38]
Chr3:121489300 [GRCh37]
Chr3:3q13.33		 likely benign
NM_001023570.4(IQCB1):c.393+210T>C single nucleotide variant not provided [RCV001732397] Chr3:121825841 [GRCh38]
Chr3:121544688 [GRCh37]
Chr3:3q13.33		 likely benign
NM_001023570.4(IQCB1):c.90G>C (p.Leu30Phe) single nucleotide variant Nephronophthisis [RCV003094138]|See cases [RCV002252385] Chr3:121828871 [GRCh38]
Chr3:121547718 [GRCh37]
Chr3:3q13.33		 likely benign|uncertain significance
NM_001023570.4(IQCB1):c.273dup (p.Val92fs) duplication Nephronophthisis [RCV002541151] Chr3:121826170..121826171 [GRCh38]
Chr3:121545017..121545018 [GRCh37]
Chr3:3q13.33		 pathogenic
NM_001023570.4(IQCB1):c.1410+81_1410+85del deletion not provided [RCV001794636] Chr3:121781658..121781662 [GRCh38]
Chr3:121500505..121500509 [GRCh37]
Chr3:3q13.33		 likely benign
NM_001023570.4(IQCB1):c.587+164T>C single nucleotide variant not provided [RCV001810367] Chr3:121807180 [GRCh38]
Chr3:121526027 [GRCh37]
Chr3:3q13.33		 likely benign
NM_001023570.4(IQCB1):c.323T>C (p.Leu108Pro) single nucleotide variant Retinal dystrophy [RCV004818759] Chr3:121826121 [GRCh38]
Chr3:121544968 [GRCh37]
Chr3:3q13.33		 uncertain significance
NM_001023570.4(IQCB1):c.767-2A>G single nucleotide variant Senior-Loken syndrome 5 [RCV001808054] Chr3:121797229 [GRCh38]
Chr3:121516076 [GRCh37]
Chr3:3q13.33		 likely pathogenic
NM_001023570.4(IQCB1):c.319T>A (p.Leu107Ile) single nucleotide variant Nephronophthisis [RCV002042379] Chr3:121826125 [GRCh38]
Chr3:121544972 [GRCh37]
Chr3:3q13.33		 uncertain significance
NM_001023570.4(IQCB1):c.1516C>A (p.His506Asn) single nucleotide variant Nephronophthisis [RCV002008253] Chr3:121772608 [GRCh38]
Chr3:121491455 [GRCh37]
Chr3:3q13.33		 uncertain significance
NM_001023570.4(IQCB1):c.904C>G (p.Gln302Glu) single nucleotide variant Nephronophthisis [RCV001896761]|Senior-Loken syndrome 5 [RCV002490199] Chr3:121795539 [GRCh38]
Chr3:121514386 [GRCh37]
Chr3:3q13.33		 uncertain significance
NM_001023570.4(IQCB1):c.1304G>A (p.Arg435His) single nucleotide variant Nephronophthisis [RCV001945424] Chr3:121781849 [GRCh38]
Chr3:121500696 [GRCh37]
Chr3:3q13.33		 uncertain significance
NM_001023570.4(IQCB1):c.871G>A (p.Glu291Lys) single nucleotide variant Nephronophthisis [RCV001863940] Chr3:121797123 [GRCh38]
Chr3:121515970 [GRCh37]
Chr3:3q13.33		 uncertain significance
NM_001023570.4(IQCB1):c.761A>G (p.Tyr254Cys) single nucleotide variant Nephronophthisis [RCV001896074] Chr3:121799201 [GRCh38]
Chr3:121518048 [GRCh37]
Chr3:3q13.33		 uncertain significance
NM_001023570.4(IQCB1):c.636T>G (p.Asp212Glu) single nucleotide variant Nephronophthisis [RCV001896164] Chr3:121799326 [GRCh38]
Chr3:121518173 [GRCh37]
Chr3:3q13.33		 uncertain significance
NM_001023570.4(IQCB1):c.1550A>G (p.Asn517Ser) single nucleotide variant Nephronophthisis [RCV001911462] Chr3:121772574 [GRCh38]
Chr3:121491421 [GRCh37]
Chr3:3q13.33		 uncertain significance
NM_001023570.4(IQCB1):c.272G>A (p.Cys91Tyr) single nucleotide variant Nephronophthisis [RCV001890187]|Senior-Loken syndrome 5 [RCV002478215] Chr3:121826172 [GRCh38]
Chr3:121545019 [GRCh37]
Chr3:3q13.33		 uncertain significance
NM_001023570.4(IQCB1):c.1568-10T>C single nucleotide variant IQCB1-related disorder [RCV003958458]|Nephronophthisis [RCV002005923] Chr3:121770584 [GRCh38]
Chr3:121489431 [GRCh37]
Chr3:3q13.33		 likely benign|uncertain significance
NM_001023570.4(IQCB1):c.1505G>A (p.Arg502Gln) single nucleotide variant Inborn genetic diseases [RCV004043853]|Nephronophthisis [RCV002002177]|Senior-Loken syndrome 5 [RCV002479563] Chr3:121772619 [GRCh38]
Chr3:121491466 [GRCh37]
Chr3:3q13.33		 uncertain significance
NM_001023570.4(IQCB1):c.215G>A (p.Arg72Gln) single nucleotide variant Nephronophthisis [RCV001871258] Chr3:121828518 [GRCh38]
Chr3:121547365 [GRCh37]
Chr3:3q13.33		 uncertain significance
NM_001023570.4(IQCB1):c.772A>G (p.Arg258Gly) single nucleotide variant Nephronophthisis [RCV001945969] Chr3:121797222 [GRCh38]
Chr3:121516069 [GRCh37]
Chr3:3q13.33		 uncertain significance
NM_001023570.4(IQCB1):c.1738A>C (p.Lys580Gln) single nucleotide variant Nephronophthisis [RCV002042781] Chr3:121770404 [GRCh38]
Chr3:121489251 [GRCh37]
Chr3:3q13.33		 uncertain significance
NM_001023570.4(IQCB1):c.980G>A (p.Ser327Asn) single nucleotide variant Nephronophthisis [RCV002007820] Chr3:121795463 [GRCh38]
Chr3:121514310 [GRCh37]
Chr3:3q13.33		 uncertain significance
NM_001023570.4(IQCB1):c.1751G>A (p.Ser584Asn) single nucleotide variant Nephronophthisis [RCV001967266] Chr3:121770391 [GRCh38]
Chr3:121489238 [GRCh37]
Chr3:3q13.33		 uncertain significance
NM_001023570.4(IQCB1):c.393+1G>C single nucleotide variant Nephronophthisis [RCV001984251] Chr3:121826050 [GRCh38]
Chr3:121544897 [GRCh37]
Chr3:3q13.33		 likely pathogenic
NM_001023570.4(IQCB1):c.1576A>C (p.Ser526Arg) single nucleotide variant Nephronophthisis [RCV001894267]|Senior-Loken syndrome 5 [RCV002506896] Chr3:121770566 [GRCh38]
Chr3:121489413 [GRCh37]
Chr3:3q13.33		 uncertain significance
NM_001023570.4(IQCB1):c.1279G>A (p.Ala427Thr) single nucleotide variant Nephronophthisis [RCV002020850]|Senior-Loken syndrome 5 [RCV002507811] Chr3:121781874 [GRCh38]
Chr3:121500721 [GRCh37]
Chr3:3q13.33		 uncertain significance
NM_001023570.4(IQCB1):c.1334G>A (p.Arg445Gln) single nucleotide variant Nephronophthisis [RCV001894405]|Senior-Loken syndrome 5 [RCV002482492] Chr3:121781819 [GRCh38]
Chr3:121500666 [GRCh37]
Chr3:3q13.33		 uncertain significance
NM_001023570.4(IQCB1):c.1278+3G>A single nucleotide variant Nephronophthisis [RCV001894839] Chr3:121788281 [GRCh38]
Chr3:121507128 [GRCh37]
Chr3:3q13.33		 uncertain significance
NM_001023570.4(IQCB1):c.1688C>G (p.Pro563Arg) single nucleotide variant Nephronophthisis [RCV001948319] Chr3:121770454 [GRCh38]
Chr3:121489301 [GRCh37]
Chr3:3q13.33		 uncertain significance
NM_001023570.4(IQCB1):c.1711G>T (p.Glu571Ter) single nucleotide variant Nephronophthisis [RCV002006599] Chr3:121770431 [GRCh38]
Chr3:121489278 [GRCh37]
Chr3:3q13.33		 uncertain significance
NM_001023570.4(IQCB1):c.1279-16A>G single nucleotide variant Nephronophthisis [RCV002006683] Chr3:121781890 [GRCh38]
Chr3:121500737 [GRCh37]
Chr3:3q13.33		 uncertain significance
NM_001023570.4(IQCB1):c.927G>C (p.Gln309His) single nucleotide variant Nephronophthisis [RCV001891113] Chr3:121795516 [GRCh38]
Chr3:121514363 [GRCh37]
Chr3:3q13.33		 uncertain significance
NM_001023570.4(IQCB1):c.1363C>A (p.Arg455=) single nucleotide variant Nephronophthisis [RCV001986176] Chr3:121781790 [GRCh38]
Chr3:121500637 [GRCh37]
Chr3:3q13.33		 uncertain significance
NC_000003.11:g.(?_121526171)_(121527876_?)del deletion Nephronophthisis [RCV001983031] Chr3:121526171..121527876 [GRCh37]
Chr3:3q13.33		 pathogenic
NM_001023570.4(IQCB1):c.730A>G (p.Ile244Val) single nucleotide variant Nephronophthisis [RCV001948277] Chr3:121799232 [GRCh38]
Chr3:121518079 [GRCh37]
Chr3:3q13.33		 uncertain significance
NM_001023570.4(IQCB1):c.1447C>G (p.His483Asp) single nucleotide variant Nephronophthisis [RCV002000797]|not provided [RCV004694087] Chr3:121772677 [GRCh38]
Chr3:121491524 [GRCh37]
Chr3:3q13.33		 uncertain significance
NM_001023570.4(IQCB1):c.369A>C (p.Gln123His) single nucleotide variant Nephronophthisis [RCV002050859] Chr3:121826075 [GRCh38]
Chr3:121544922 [GRCh37]
Chr3:3q13.33		 uncertain significance
NM_001023570.4(IQCB1):c.178C>T (p.Gln60Ter) single nucleotide variant Nephronophthisis [RCV002037700] Chr3:121828555 [GRCh38]
Chr3:121547402 [GRCh37]
Chr3:3q13.33		 pathogenic
NM_001023570.4(IQCB1):c.729_754del (p.Glu243fs) deletion Nephronophthisis [RCV001961933] Chr3:121799208..121799233 [GRCh38]
Chr3:121518055..121518080 [GRCh37]
Chr3:3q13.33		 pathogenic
NM_001023570.4(IQCB1):c.601A>T (p.Arg201Ter) single nucleotide variant Nephronophthisis [RCV001931581] Chr3:121799361 [GRCh38]
Chr3:121518208 [GRCh37]
Chr3:3q13.33		 pathogenic
NM_001023570.4(IQCB1):c.445C>A (p.Leu149Ile) single nucleotide variant Nephronophthisis [RCV001996599]|Senior-Loken syndrome 5 [RCV002479554] Chr3:121808958 [GRCh38]
Chr3:121527805 [GRCh37]
Chr3:3q13.33		 uncertain significance
NM_001023570.4(IQCB1):c.155A>G (p.Asp52Gly) single nucleotide variant Nephronophthisis [RCV001881139] Chr3:121828578 [GRCh38]
Chr3:121547425 [GRCh37]
Chr3:3q13.33		 uncertain significance
NM_001023570.4(IQCB1):c.1000A>C (p.Lys334Gln) single nucleotide variant Nephronophthisis [RCV002001416]|Senior-Loken syndrome 5 [RCV002479687] Chr3:121790202 [GRCh38]
Chr3:121509049 [GRCh37]
Chr3:3q13.33		 uncertain significance
NM_001023570.4(IQCB1):c.1364G>A (p.Arg455Gln) single nucleotide variant Inborn genetic diseases [RCV002560429]|Nephronophthisis [RCV001943555]|Senior-Loken syndrome 5 [RCV002484548] Chr3:121781789 [GRCh38]
Chr3:121500636 [GRCh37]
Chr3:3q13.33		 uncertain significance
NM_001023570.4(IQCB1):c.1003A>G (p.Met335Val) single nucleotide variant Nephronophthisis [RCV002014165]|Senior-Loken syndrome 5 [RCV002486690] Chr3:121790199 [GRCh38]
Chr3:121509046 [GRCh37]
Chr3:3q13.33		 uncertain significance
NM_001023570.4(IQCB1):c.62C>T (p.Pro21Leu) single nucleotide variant Nephronophthisis [RCV001989738] Chr3:121828899 [GRCh38]
Chr3:121547746 [GRCh37]
Chr3:3q13.33		 uncertain significance
NM_001023570.4(IQCB1):c.340A>C (p.Asn114His) single nucleotide variant Nephronophthisis [RCV002031767] Chr3:121826104 [GRCh38]
Chr3:121544951 [GRCh37]
Chr3:3q13.33		 uncertain significance
NM_001023570.4(IQCB1):c.692C>T (p.Thr231Ile) single nucleotide variant Nephronophthisis [RCV001995297]|Senior-Loken syndrome 5 [RCV002479618] Chr3:121799270 [GRCh38]
Chr3:121518117 [GRCh37]
Chr3:3q13.33		 uncertain significance
NM_001023570.4(IQCB1):c.1278+12G>A single nucleotide variant Nephronophthisis [RCV001956153] Chr3:121788272 [GRCh38]
Chr3:121507119 [GRCh37]
Chr3:3q13.33		 likely benign
NM_001023570.4(IQCB1):c.904C>A (p.Gln302Lys) single nucleotide variant Nephronophthisis [RCV002026392] Chr3:121795539 [GRCh38]
Chr3:121514386 [GRCh37]
Chr3:3q13.33		 uncertain significance
NM_001023570.4(IQCB1):c.588-2A>G single nucleotide variant Nephronophthisis [RCV002027849]|Senior-Loken syndrome 5 [RCV003471283] Chr3:121799376 [GRCh38]
Chr3:121518223 [GRCh37]
Chr3:3q13.33		 likely pathogenic
NM_001023570.4(IQCB1):c.366A>C (p.Leu122Phe) single nucleotide variant Nephronophthisis [RCV002047745] Chr3:121826078 [GRCh38]
Chr3:121544925 [GRCh37]
Chr3:3q13.33		 uncertain significance
NM_001023570.4(IQCB1):c.1406A>G (p.His469Arg) single nucleotide variant Nephronophthisis [RCV001932181] Chr3:121781747 [GRCh38]
Chr3:121500594 [GRCh37]
Chr3:3q13.33		 uncertain significance
NC_000003.11:g.(?_120365818)_(133465047_?)del deletion Alkaptonuria [RCV002035459] Chr3:120365818..133465047 [GRCh37]
Chr3:3q13.33-22.1		 pathogenic
NM_001023570.4(IQCB1):c.461G>A (p.Gly154Glu) single nucleotide variant Nephronophthisis [RCV001884384] Chr3:121808942 [GRCh38]
Chr3:121527789 [GRCh37]
Chr3:3q13.33		 uncertain significance
NM_001023570.4(IQCB1):c.1181T>G (p.Ile394Ser) single nucleotide variant Nephronophthisis [RCV001931092] Chr3:121788381 [GRCh38]
Chr3:121507228 [GRCh37]
Chr3:3q13.33		 uncertain significance
NM_001023570.4(IQCB1):c.1271A>G (p.Gln424Arg) single nucleotide variant Nephronophthisis [RCV001899298]|Senior-Loken syndrome 5 [RCV002490053] Chr3:121788291 [GRCh38]
Chr3:121507138 [GRCh37]
Chr3:3q13.33		 uncertain significance
NM_001023570.4(IQCB1):c.1040A>T (p.Asp347Val) single nucleotide variant Nephronophthisis [RCV001903906] Chr3:121790162 [GRCh38]
Chr3:121509009 [GRCh37]
Chr3:3q13.33		 uncertain significance
NM_001023570.4(IQCB1):c.458T>C (p.Leu153Ser) single nucleotide variant Inborn genetic diseases [RCV002555303]|Nephronophthisis [RCV001925186]|Senior-Loken syndrome 5 [RCV002478324] Chr3:121808945 [GRCh38]
Chr3:121527792 [GRCh37]
Chr3:3q13.33		 uncertain significance
NM_001023570.4(IQCB1):c.917A>C (p.Lys306Thr) single nucleotide variant Nephronophthisis [RCV002035692] Chr3:121795526 [GRCh38]
Chr3:121514373 [GRCh37]
Chr3:3q13.33		 uncertain significance
NM_001023570.4(IQCB1):c.1634T>C (p.Val545Ala) single nucleotide variant Nephronophthisis [RCV001990172] Chr3:121770508 [GRCh38]
Chr3:121489355 [GRCh37]
Chr3:3q13.33		 uncertain significance
NM_001023570.4(IQCB1):c.895T>A (p.Cys299Ser) single nucleotide variant Nephronophthisis [RCV002026060] Chr3:121795548 [GRCh38]
Chr3:121514395 [GRCh37]
Chr3:3q13.33		 uncertain significance
NM_001023570.4(IQCB1):c.767-9C>A single nucleotide variant Nephronophthisis [RCV002030342] Chr3:121797236 [GRCh38]
Chr3:121516083 [GRCh37]
Chr3:3q13.33		 uncertain significance
NM_001023570.4(IQCB1):c.101-1G>A single nucleotide variant Nephronophthisis [RCV002030541] Chr3:121828633 [GRCh38]
Chr3:121547480 [GRCh37]
Chr3:3q13.33		 likely pathogenic
NM_001023570.4(IQCB1):c.1367T>G (p.Val456Gly) single nucleotide variant Nephronophthisis [RCV001991539] Chr3:121781786 [GRCh38]
Chr3:121500633 [GRCh37]
Chr3:3q13.33		 uncertain significance
NM_001023570.4(IQCB1):c.850A>G (p.Met284Val) single nucleotide variant Nephronophthisis [RCV001978478] Chr3:121797144 [GRCh38]
Chr3:121515991 [GRCh37]
Chr3:3q13.33		 uncertain significance
NM_001023570.4(IQCB1):c.757del (p.Cys253fs) deletion IQCB1-related disorder [RCV003407857]|Nephronophthisis [RCV001899718] Chr3:121799205 [GRCh38]
Chr3:121518052 [GRCh37]
Chr3:3q13.33		 pathogenic|likely pathogenic
NM_001023570.4(IQCB1):c.264-3C>T single nucleotide variant Nephronophthisis [RCV001883966] Chr3:121826183 [GRCh38]
Chr3:121545030 [GRCh37]
Chr3:3q13.33		 uncertain significance
NM_001023570.4(IQCB1):c.137T>A (p.Leu46Ter) single nucleotide variant Nephronophthisis [RCV001960504] Chr3:121828596 [GRCh38]
Chr3:121547443 [GRCh37]
Chr3:3q13.33		 pathogenic
NM_001023570.4(IQCB1):c.1484T>C (p.Met495Thr) single nucleotide variant Nephronophthisis [RCV001866270] Chr3:121772640 [GRCh38]
Chr3:121491487 [GRCh37]
Chr3:3q13.33		 uncertain significance
NM_001023570.4(IQCB1):c.1589C>A (p.Ala530Glu) single nucleotide variant Nephronophthisis [RCV001921263] Chr3:121770553 [GRCh38]
Chr3:121489400 [GRCh37]
Chr3:3q13.33		 uncertain significance
NM_001023570.4(IQCB1):c.1333C>T (p.Arg445Ter) single nucleotide variant Nephronophthisis [RCV001956492]|Senior-Loken syndrome 5 [RCV003475250] Chr3:121781820 [GRCh38]
Chr3:121500667 [GRCh37]
Chr3:3q13.33		 pathogenic
NM_001023570.4(IQCB1):c.1295C>T (p.Ala432Val) single nucleotide variant Nephronophthisis [RCV001930590] Chr3:121781858 [GRCh38]
Chr3:121500705 [GRCh37]
Chr3:3q13.33		 uncertain significance
NM_001023570.4(IQCB1):c.1210A>G (p.Arg404Gly) single nucleotide variant Inborn genetic diseases [RCV002563543]|Nephronophthisis [RCV002014467] Chr3:121788352 [GRCh38]
Chr3:121507199 [GRCh37]
Chr3:3q13.33		 uncertain significance
NM_001023570.4(IQCB1):c.86T>C (p.Leu29Pro) single nucleotide variant Nephronophthisis [RCV001991132] Chr3:121828875 [GRCh38]
Chr3:121547722 [GRCh37]
Chr3:3q13.33		 uncertain significance
NM_001023570.4(IQCB1):c.622T>C (p.Tyr208His) single nucleotide variant Nephronophthisis [RCV001922070] Chr3:121799340 [GRCh38]
Chr3:121518187 [GRCh37]
Chr3:3q13.33		 uncertain significance
NM_001023570.4(IQCB1):c.620T>C (p.Leu207Pro) single nucleotide variant Nephronophthisis [RCV001900495] Chr3:121799342 [GRCh38]
Chr3:121518189 [GRCh37]
Chr3:3q13.33		 uncertain significance
NM_001023570.4(IQCB1):c.1727T>C (p.Ile576Thr) single nucleotide variant Nephronophthisis [RCV001955188]|Senior-Loken syndrome 5 [RCV002479501] Chr3:121770415 [GRCh38]
Chr3:121489262 [GRCh37]
Chr3:3q13.33		 uncertain significance
NM_001023570.4(IQCB1):c.362A>G (p.Gln121Arg) single nucleotide variant Nephronophthisis [RCV001920910] Chr3:121826082 [GRCh38]
Chr3:121544929 [GRCh37]
Chr3:3q13.33		 uncertain significance
NM_001023570.4(IQCB1):c.588-16T>A single nucleotide variant Nephronophthisis [RCV002208933]|Senior-Loken syndrome 5 [RCV002494100] Chr3:121799390 [GRCh38]
Chr3:121518237 [GRCh37]
Chr3:3q13.33		 likely benign
NM_001023570.4(IQCB1):c.288A>G (p.Pro96=) single nucleotide variant Nephronophthisis [RCV002146791]|Senior-Loken syndrome 5 [RCV002508029] Chr3:121826156 [GRCh38]
Chr3:121545003 [GRCh37]
Chr3:3q13.33		 likely benign
NM_001023570.4(IQCB1):c.1411-4C>T single nucleotide variant Nephronophthisis [RCV002189232] Chr3:121772717 [GRCh38]
Chr3:121491564 [GRCh37]
Chr3:3q13.33		 likely benign
NM_001023570.4(IQCB1):c.264-20A>C single nucleotide variant Nephronophthisis [RCV002214592] Chr3:121826200 [GRCh38]
Chr3:121545047 [GRCh37]
Chr3:3q13.33		 likely benign
NM_001023570.4(IQCB1):c.876+19A>G single nucleotide variant Nephronophthisis [RCV002151287]|Senior-Loken syndrome 5 [RCV002500314] Chr3:121797099 [GRCh38]
Chr3:121515946 [GRCh37]
Chr3:3q13.33		 likely benign
NM_001023570.4(IQCB1):c.876+12C>T single nucleotide variant Nephronophthisis [RCV002153187] Chr3:121797106 [GRCh38]
Chr3:121515953 [GRCh37]
Chr3:3q13.33		 likely benign
NM_001023570.4(IQCB1):c.1287A>G (p.Lys429=) single nucleotide variant Nephronophthisis [RCV002113926] Chr3:121781866 [GRCh38]
Chr3:121500713 [GRCh37]
Chr3:3q13.33		 likely benign
NM_001023570.4(IQCB1):c.986+14G>T single nucleotide variant Nephronophthisis [RCV002115390] Chr3:121795443 [GRCh38]
Chr3:121514290 [GRCh37]
Chr3:3q13.33		 likely benign
NM_001023570.4(IQCB1):c.263+18G>A single nucleotide variant Nephronophthisis [RCV002113449] Chr3:121828452 [GRCh38]
Chr3:121547299 [GRCh37]
Chr3:3q13.33		 likely benign
NM_001023570.4(IQCB1):c.1296G>T (p.Ala432=) single nucleotide variant Nephronophthisis [RCV002071598] Chr3:121781857 [GRCh38]
Chr3:121500704 [GRCh37]
Chr3:3q13.33		 likely benign
NM_001023570.4(IQCB1):c.930A>G (p.Thr310=) single nucleotide variant Nephronophthisis [RCV002212624] Chr3:121795513 [GRCh38]
Chr3:121514360 [GRCh37]
Chr3:3q13.33		 likely benign
NM_001023570.4(IQCB1):c.1269T>G (p.Leu423=) single nucleotide variant Nephronophthisis [RCV002096470] Chr3:121788293 [GRCh38]
Chr3:121507140 [GRCh37]
Chr3:3q13.33		 likely benign
NM_001023570.4(IQCB1):c.488-13del deletion Nephronophthisis [RCV002115867] Chr3:121807456 [GRCh38]
Chr3:121526303 [GRCh37]
Chr3:3q13.33		 benign
NM_001023570.4(IQCB1):c.1206G>A (p.Arg402=) single nucleotide variant Nephronophthisis [RCV002080081] Chr3:121788356 [GRCh38]
Chr3:121507203 [GRCh37]
Chr3:3q13.33		 likely benign
NM_001023570.4(IQCB1):c.1551C>T (p.Asn517=) single nucleotide variant Nephronophthisis [RCV002114146] Chr3:121772573 [GRCh38]
Chr3:121491420 [GRCh37]
Chr3:3q13.33		 likely benign
NM_001023570.4(IQCB1):c.101-18T>G single nucleotide variant Nephronophthisis [RCV002174527] Chr3:121828650 [GRCh38]
Chr3:121547497 [GRCh37]
Chr3:3q13.33		 likely benign
NM_001023570.4(IQCB1):c.1279-8del deletion Nephronophthisis [RCV002212266] Chr3:121781882 [GRCh38]
Chr3:121500729 [GRCh37]
Chr3:3q13.33		 benign
NM_001023570.4(IQCB1):c.101-14T>G single nucleotide variant Nephronophthisis [RCV002198308] Chr3:121828646 [GRCh38]
Chr3:121547493 [GRCh37]
Chr3:3q13.33		 likely benign
NM_001023570.4(IQCB1):c.1212G>A (p.Arg404=) single nucleotide variant Nephronophthisis [RCV002140800] Chr3:121788350 [GRCh38]
Chr3:121507197 [GRCh37]
Chr3:3q13.33		 likely benign
NM_001023570.4(IQCB1):c.280T>C (p.Leu94=) single nucleotide variant Nephronophthisis [RCV002182922] Chr3:121826164 [GRCh38]
Chr3:121545011 [GRCh37]
Chr3:3q13.33		 likely benign
NM_001023570.4(IQCB1):c.987-15C>G single nucleotide variant Nephronophthisis [RCV002164368] Chr3:121790230 [GRCh38]
Chr3:121509077 [GRCh37]
Chr3:3q13.33		 likely benign
NM_001023570.4(IQCB1):c.101-4T>G single nucleotide variant Nephronophthisis [RCV002140883] Chr3:121828636 [GRCh38]
Chr3:121547483 [GRCh37]
Chr3:3q13.33		 likely benign
NM_001023570.4(IQCB1):c.126A>G (p.Gly42=) single nucleotide variant Nephronophthisis [RCV002181234] Chr3:121828607 [GRCh38]
Chr3:121547454 [GRCh37]
Chr3:3q13.33		 likely benign
NM_001023570.4(IQCB1):c.1518C>T (p.His506=) single nucleotide variant Nephronophthisis [RCV002175211] Chr3:121772606 [GRCh38]
Chr3:121491453 [GRCh37]
Chr3:3q13.33		 likely benign
NM_001023570.4(IQCB1):c.693A>G (p.Thr231=) single nucleotide variant Nephronophthisis [RCV002101974] Chr3:121799269 [GRCh38]
Chr3:121518116 [GRCh37]
Chr3:3q13.33		 likely benign
NM_001023570.4(IQCB1):c.487+19A>G single nucleotide variant Nephronophthisis [RCV002197698] Chr3:121808897 [GRCh38]
Chr3:121527744 [GRCh37]
Chr3:3q13.33		 likely benign
NM_001023570.4(IQCB1):c.447C>T (p.Leu149=) single nucleotide variant Nephronophthisis [RCV002183655] Chr3:121808956 [GRCh38]
Chr3:121527803 [GRCh37]
Chr3:3q13.33		 likely benign
NM_001023570.4(IQCB1):c.877-17T>C single nucleotide variant Nephronophthisis [RCV002098546] Chr3:121795583 [GRCh38]
Chr3:121514430 [GRCh37]
Chr3:3q13.33		 likely benign
NM_001023570.4(IQCB1):c.876+45AT[3] microsatellite not provided [RCV002222788] Chr3:121797069..121797070 [GRCh38]
Chr3:121515916..121515917 [GRCh37]
Chr3:3q13.33		 likely benign
NM_001023570.4(IQCB1):c.1567+17C>T single nucleotide variant Nephronophthisis [RCV003118117] Chr3:121772540 [GRCh38]
Chr3:121491387 [GRCh37]
Chr3:3q13.33		 likely benign
NM_001023570.4(IQCB1):c.394-3A>G single nucleotide variant Nephronophthisis [RCV003111852] Chr3:121809012 [GRCh38]
Chr3:121527859 [GRCh37]
Chr3:3q13.33		 uncertain significance
NC_000003.11:g.(?_121489192)_(125313644_?)dup duplication Familial hypocalciuric hypercalcemia [RCV003111142] Chr3:121489192..125313644 [GRCh37]
Chr3:3q13.33-21.2		 uncertain significance
NC_000003.11:g.(?_121489192)_(121489441_?)del deletion Nephronophthisis [RCV003122310] Chr3:121489192..121489441 [GRCh37]
Chr3:3q13.33		 uncertain significance
NC_000003.11:g.(?_121547297)_(121547807_?)del deletion Nephronophthisis [RCV003122311] Chr3:121547297..121547807 [GRCh37]
Chr3:3q13.33		 pathogenic
NC_000003.11:g.(?_121459590)_(121547499_?)del deletion Nephronophthisis [RCV003122312] Chr3:121459590..121547499 [GRCh37]
Chr3:3q13.33		 pathogenic
NM_001023570.4(IQCB1):c.264-21G>A single nucleotide variant not provided [RCV002265071] Chr3:121826201 [GRCh38]
Chr3:121545048 [GRCh37]
Chr3:3q13.33		 likely benign
NM_001023570.4(IQCB1):c.100+64A>G single nucleotide variant not provided [RCV002292004] Chr3:121828797 [GRCh38]
Chr3:121547644 [GRCh37]
Chr3:3q13.33		 likely benign
GRCh37/hg19 3q13.31-26.31(chr3:116620308-172042292)x3 copy number gain not provided [RCV002472621] Chr3:116620308..172042292 [GRCh37]
Chr3:3q13.31-26.31		 pathogenic
NM_001023570.4(IQCB1):c.766+19_766+22del microsatellite Nephronophthisis [RCV002681250] Chr3:121799174..121799177 [GRCh38]
Chr3:121518021..121518024 [GRCh37]
Chr3:3q13.33		 likely benign
NM_001023570.4(IQCB1):c.1687C>G (p.Pro563Ala) single nucleotide variant Nephronophthisis [RCV002295675] Chr3:121770455 [GRCh38]
Chr3:121489302 [GRCh37]
Chr3:3q13.33		 uncertain significance
NM_001023570.4(IQCB1):c.29T>A (p.Ile10Asn) single nucleotide variant Nephronophthisis [RCV002295859] Chr3:121828932 [GRCh38]
Chr3:121547779 [GRCh37]
Chr3:3q13.33		 uncertain significance
NM_001023570.4(IQCB1):c.678A>G (p.Ile226Met) single nucleotide variant Inborn genetic diseases [RCV002840897] Chr3:121799284 [GRCh38]
Chr3:121518131 [GRCh37]
Chr3:3q13.33		 uncertain significance
NM_001023570.4(IQCB1):c.1707A>T (p.Gly569=) single nucleotide variant Nephronophthisis [RCV002681516] Chr3:121770435 [GRCh38]
Chr3:121489282 [GRCh37]
Chr3:3q13.33		 likely benign
NM_001023570.4(IQCB1):c.635A>G (p.Asp212Gly) single nucleotide variant Nephronophthisis [RCV002972525] Chr3:121799327 [GRCh38]
Chr3:121518174 [GRCh37]
Chr3:3q13.33		 uncertain significance
NM_001023570.4(IQCB1):c.876+12dup duplication Nephronophthisis [RCV002618461] Chr3:121797105..121797106 [GRCh38]
Chr3:121515952..121515953 [GRCh37]
Chr3:3q13.33		 likely benign
NM_001023570.4(IQCB1):c.1487G>A (p.Gly496Asp) single nucleotide variant Nephronophthisis [RCV002974923] Chr3:121772637 [GRCh38]
Chr3:121491484 [GRCh37]
Chr3:3q13.33		 uncertain significance
NM_001023570.4(IQCB1):c.1098G>A (p.Leu366=) single nucleotide variant Nephronophthisis [RCV003014493] Chr3:121790104 [GRCh38]
Chr3:121508951 [GRCh37]
Chr3:3q13.33		 likely benign
NM_001023570.4(IQCB1):c.864A>G (p.Glu288=) single nucleotide variant Nephronophthisis [RCV002908370] Chr3:121797130 [GRCh38]
Chr3:121515977 [GRCh37]
Chr3:3q13.33		 likely benign
NM_001023570.4(IQCB1):c.1573C>T (p.Pro525Ser) single nucleotide variant Nephronophthisis [RCV002690374] Chr3:121770569 [GRCh38]
Chr3:121489416 [GRCh37]
Chr3:3q13.33		 uncertain significance
NM_001023570.4(IQCB1):c.1310A>G (p.Lys437Arg) single nucleotide variant Inborn genetic diseases [RCV002733156] Chr3:121781843 [GRCh38]
Chr3:121500690 [GRCh37]
Chr3:3q13.33		 uncertain significance
NM_001023570.4(IQCB1):c.490C>T (p.Leu164=) single nucleotide variant Nephronophthisis [RCV002903134] Chr3:121807441 [GRCh38]
Chr3:121526288 [GRCh37]
Chr3:3q13.33		 likely benign
NM_001023570.4(IQCB1):c.767-9C>T single nucleotide variant Nephronophthisis [RCV002863224] Chr3:121797236 [GRCh38]
Chr3:121516083 [GRCh37]
Chr3:3q13.33		 likely benign
NM_001023570.4(IQCB1):c.1382G>A (p.Arg461Gln) single nucleotide variant Inborn genetic diseases [RCV002732265] Chr3:121781771 [GRCh38]
Chr3:121500618 [GRCh37]
Chr3:3q13.33		 likely benign
NM_001023570.4(IQCB1):c.1069C>G (p.Gln357Glu) single nucleotide variant Nephronophthisis [RCV002571611]|not provided [RCV002511442] Chr3:121790133 [GRCh38]
Chr3:121508980 [GRCh37]
Chr3:3q13.33		 uncertain significance
NM_001023570.4(IQCB1):c.1763A>C (p.Glu588Ala) single nucleotide variant Inborn genetic diseases [RCV002777035] Chr3:121770379 [GRCh38]
Chr3:121489226 [GRCh37]
Chr3:3q13.33		 uncertain significance
NM_001023570.4(IQCB1):c.634G>C (p.Asp212His) single nucleotide variant Nephronophthisis [RCV002971787] Chr3:121799328 [GRCh38]
Chr3:121518175 [GRCh37]
Chr3:3q13.33		 uncertain significance
NM_001023570.4(IQCB1):c.1371A>G (p.Glu457=) single nucleotide variant Nephronophthisis [RCV003039466] Chr3:121781782 [GRCh38]
Chr3:121500629 [GRCh37]
Chr3:3q13.33		 likely benign
NM_001023570.4(IQCB1):c.1568-11G>A single nucleotide variant Nephronophthisis [RCV002848134] Chr3:121770585 [GRCh38]
Chr3:121489432 [GRCh37]
Chr3:3q13.33		 likely benign
NM_001023570.4(IQCB1):c.1568-13C>T single nucleotide variant Nephronophthisis [RCV002949278] Chr3:121770587 [GRCh38]
Chr3:121489434 [GRCh37]
Chr3:3q13.33		 likely benign
NM_001023570.4(IQCB1):c.625T>G (p.Ser209Ala) single nucleotide variant Inborn genetic diseases [RCV002757750] Chr3:121799337 [GRCh38]
Chr3:121518184 [GRCh37]
Chr3:3q13.33		 uncertain significance
NM_001023570.4(IQCB1):c.1568-19T>A single nucleotide variant Nephronophthisis [RCV002976414] Chr3:121770593 [GRCh38]
Chr3:121489440 [GRCh37]
Chr3:3q13.33		 likely benign
NM_001023570.4(IQCB1):c.479T>C (p.Ile160Thr) single nucleotide variant Nephronophthisis [RCV002795134] Chr3:121808924 [GRCh38]
Chr3:121527771 [GRCh37]
Chr3:3q13.33		 uncertain significance
NM_001023570.4(IQCB1):c.975G>T (p.Gln325His) single nucleotide variant Nephronophthisis [RCV002999879] Chr3:121795468 [GRCh38]
Chr3:121514315 [GRCh37]
Chr3:3q13.33		 uncertain significance
NM_001023570.4(IQCB1):c.1130-19G>C single nucleotide variant Nephronophthisis [RCV002909425] Chr3:121788451 [GRCh38]
Chr3:121507298 [GRCh37]
Chr3:3q13.33		 likely benign
NM_001023570.4(IQCB1):c.986+20G>A single nucleotide variant Nephronophthisis [RCV002636663] Chr3:121795437 [GRCh38]
Chr3:121514284 [GRCh37]
Chr3:3q13.33		 likely benign
NM_001023570.4(IQCB1):c.1510C>T (p.Gln504Ter) single nucleotide variant Nephronophthisis [RCV002848163] Chr3:121772614 [GRCh38]
Chr3:121491461 [GRCh37]
Chr3:3q13.33		 pathogenic
NM_001023570.4(IQCB1):c.1279-15T>A single nucleotide variant Nephronophthisis [RCV002592367] Chr3:121781889 [GRCh38]
Chr3:121500736 [GRCh37]
Chr3:3q13.33		 likely benign
NM_001023570.4(IQCB1):c.487+6A>G single nucleotide variant Nephronophthisis [RCV002636533] Chr3:121808910 [GRCh38]
Chr3:121527757 [GRCh37]
Chr3:3q13.33		 uncertain significance
NM_001023570.4(IQCB1):c.1253A>C (p.Lys418Thr) single nucleotide variant Nephronophthisis [RCV002999690] Chr3:121788309 [GRCh38]
Chr3:121507156 [GRCh37]
Chr3:3q13.33		 uncertain significance
NM_001023570.4(IQCB1):c.1279-10_1279-8del deletion Nephronophthisis [RCV002913843] Chr3:121781882..121781884 [GRCh38]
Chr3:121500729..121500731 [GRCh37]
Chr3:3q13.33		 likely benign
NM_001023570.4(IQCB1):c.1499A>G (p.Glu500Gly) single nucleotide variant Nephronophthisis [RCV003023869] Chr3:121772625 [GRCh38]
Chr3:121491472 [GRCh37]
Chr3:3q13.33		 uncertain significance
NM_001023570.4(IQCB1):c.1418C>T (p.Pro473Leu) single nucleotide variant Nephronophthisis [RCV003023064] Chr3:121772706 [GRCh38]
Chr3:121491553 [GRCh37]
Chr3:3q13.33		 uncertain significance
NM_001023570.4(IQCB1):c.1720G>A (p.Asp574Asn) single nucleotide variant Nephronophthisis [RCV002745369] Chr3:121770422 [GRCh38]
Chr3:121489269 [GRCh37]
Chr3:3q13.33		 uncertain significance
NM_001023570.4(IQCB1):c.1369G>C (p.Glu457Gln) single nucleotide variant Nephronophthisis [RCV002931963] Chr3:121781784 [GRCh38]
Chr3:121500631 [GRCh37]
Chr3:3q13.33		 uncertain significance
NM_001023570.4(IQCB1):c.1567+4T>C single nucleotide variant Nephronophthisis [RCV003059007] Chr3:121772553 [GRCh38]
Chr3:121491400 [GRCh37]
Chr3:3q13.33		 uncertain significance
NM_001023570.4(IQCB1):c.394-1G>A single nucleotide variant Nephronophthisis [RCV002664315] Chr3:121809010 [GRCh38]
Chr3:121527857 [GRCh37]
Chr3:3q13.33		 likely pathogenic
NM_001023570.4(IQCB1):c.986+9del deletion Nephronophthisis [RCV002985451] Chr3:121795448 [GRCh38]
Chr3:121514295 [GRCh37]
Chr3:3q13.33		 benign
NM_001023570.4(IQCB1):c.142A>G (p.Lys48Glu) single nucleotide variant Nephronophthisis [RCV002642288] Chr3:121828591 [GRCh38]
Chr3:121547438 [GRCh37]
Chr3:3q13.33		 uncertain significance
NM_001023570.4(IQCB1):c.1360C>T (p.Arg454Cys) single nucleotide variant Nephronophthisis [RCV002985335] Chr3:121781793 [GRCh38]
Chr3:121500640 [GRCh37]
Chr3:3q13.33		 uncertain significance
NM_001023570.4(IQCB1):c.1496del (p.Leu499fs) deletion Nephronophthisis [RCV002741516] Chr3:121772628 [GRCh38]
Chr3:121491475 [GRCh37]
Chr3:3q13.33		 pathogenic
NM_001023570.4(IQCB1):c.759C>A (p.Cys253Ter) single nucleotide variant Nephronophthisis [RCV002700406] Chr3:121799203 [GRCh38]
Chr3:121518050 [GRCh37]
Chr3:3q13.33		 pathogenic
NM_001023570.4(IQCB1):c.488-22_488-19del microsatellite Nephronophthisis [RCV002623404] Chr3:121807462..121807465 [GRCh38]
Chr3:121526309..121526312 [GRCh37]
Chr3:3q13.33		 likely benign
NM_001023570.4(IQCB1):c.393+8T>A single nucleotide variant Nephronophthisis [RCV002801212] Chr3:121826043 [GRCh38]
Chr3:121544890 [GRCh37]
Chr3:3q13.33		 likely benign
NM_001023570.4(IQCB1):c.298G>A (p.Ala100Thr) single nucleotide variant Nephronophthisis [RCV002745508] Chr3:121826146 [GRCh38]
Chr3:121544993 [GRCh37]
Chr3:3q13.33		 uncertain significance
NM_001023570.4(IQCB1):c.1130-1G>C single nucleotide variant not provided [RCV002508865] Chr3:121788433 [GRCh38]
Chr3:121507280 [GRCh37]
Chr3:3q13.33		 pathogenic
NM_001023570.4(IQCB1):c.332C>T (p.Ala111Val) single nucleotide variant Nephronophthisis [RCV003006099] Chr3:121826112 [GRCh38]
Chr3:121544959 [GRCh37]
Chr3:3q13.33		 uncertain significance
NM_001023570.4(IQCB1):c.1279-17A>C single nucleotide variant Nephronophthisis [RCV002828835] Chr3:121781891 [GRCh38]
Chr3:121500738 [GRCh37]
Chr3:3q13.33		 likely benign
NM_001023570.4(IQCB1):c.876+16A>T single nucleotide variant Nephronophthisis [RCV003081833] Chr3:121797102 [GRCh38]
Chr3:121515949 [GRCh37]
Chr3:3q13.33		 likely benign
NM_001023570.4(IQCB1):c.705G>A (p.Leu235=) single nucleotide variant Nephronophthisis [RCV002711077] Chr3:121799257 [GRCh38]
Chr3:121518104 [GRCh37]
Chr3:3q13.33		 likely benign
NM_001023570.4(IQCB1):c.96A>G (p.Leu32=) single nucleotide variant Nephronophthisis [RCV003057856] Chr3:121828865 [GRCh38]
Chr3:121547712 [GRCh37]
Chr3:3q13.33		 likely benign
NM_001023570.4(IQCB1):c.1410+19A>G single nucleotide variant Nephronophthisis [RCV003023258] Chr3:121781724 [GRCh38]
Chr3:121500571 [GRCh37]
Chr3:3q13.33		 likely benign
NM_001023570.4(IQCB1):c.1563A>G (p.Leu521=) single nucleotide variant Nephronophthisis [RCV002623415] Chr3:121772561 [GRCh38]
Chr3:121491408 [GRCh37]
Chr3:3q13.33		 likely benign
NM_001023570.4(IQCB1):c.588-18T>A single nucleotide variant Nephronophthisis [RCV003007432] Chr3:121799392 [GRCh38]
Chr3:121518239 [GRCh37]
Chr3:3q13.33		 uncertain significance
NM_001023570.4(IQCB1):c.75C>G (p.Val25=) single nucleotide variant Nephronophthisis [RCV003059008] Chr3:121828886 [GRCh38]
Chr3:121547733 [GRCh37]
Chr3:3q13.33		 likely benign
NM_001023570.4(IQCB1):c.1678A>G (p.Ile560Val) single nucleotide variant Nephronophthisis [RCV002954153] Chr3:121770464 [GRCh38]
Chr3:121489311 [GRCh37]
Chr3:3q13.33		 uncertain significance
NM_001023570.4(IQCB1):c.455T>G (p.Leu152Arg) single nucleotide variant Nephronophthisis [RCV002644311] Chr3:121808948 [GRCh38]
Chr3:121527795 [GRCh37]
Chr3:3q13.33		 uncertain significance
NM_001023570.4(IQCB1):c.887A>G (p.Gln296Arg) single nucleotide variant Nephronophthisis [RCV002663714] Chr3:121795556 [GRCh38]
Chr3:121514403 [GRCh37]
Chr3:3q13.33		 uncertain significance
NM_001023570.4(IQCB1):c.1574_1576del (p.Pro525_Ser526delinsArg) deletion Nephronophthisis [RCV003023175] Chr3:121770566..121770568 [GRCh38]
Chr3:121489413..121489415 [GRCh37]
Chr3:3q13.33		 uncertain significance
NM_001023570.4(IQCB1):c.550G>A (p.Val184Ile) single nucleotide variant Nephronophthisis [RCV003044848] Chr3:121807381 [GRCh38]
Chr3:121526228 [GRCh37]
Chr3:3q13.33		 uncertain significance
NM_001023570.4(IQCB1):c.115A>G (p.Thr39Ala) single nucleotide variant Nephronophthisis [RCV002966640] Chr3:121828618 [GRCh38]
Chr3:121547465 [GRCh37]
Chr3:3q13.33		 uncertain significance
NM_001023570.4(IQCB1):c.101-13C>T single nucleotide variant Nephronophthisis [RCV002631003] Chr3:121828645 [GRCh38]
Chr3:121547492 [GRCh37]
Chr3:3q13.33		 likely benign
NM_001023570.4(IQCB1):c.1279-14T>G single nucleotide variant Nephronophthisis [RCV003047664] Chr3:121781888 [GRCh38]
Chr3:121500735 [GRCh37]
Chr3:3q13.33		 likely benign
NM_001023570.4(IQCB1):c.487G>A (p.Val163Ile) single nucleotide variant Nephronophthisis [RCV002676667] Chr3:121808916 [GRCh38]
Chr3:121527763 [GRCh37]
Chr3:3q13.33		 uncertain significance
NM_001023570.4(IQCB1):c.65A>G (p.Glu22Gly) single nucleotide variant Nephronophthisis [RCV003028408] Chr3:121828896 [GRCh38]
Chr3:121547743 [GRCh37]
Chr3:3q13.33		 uncertain significance
NM_001023570.4(IQCB1):c.139A>G (p.Lys47Glu) single nucleotide variant Nephronophthisis [RCV002602499] Chr3:121828594 [GRCh38]
Chr3:121547441 [GRCh37]
Chr3:3q13.33		 uncertain significance
NM_001023570.4(IQCB1):c.410A>G (p.Glu137Gly) single nucleotide variant Nephronophthisis [RCV002770954] Chr3:121808993 [GRCh38]
Chr3:121527840 [GRCh37]
Chr3:3q13.33		 uncertain significance
NM_001023570.4(IQCB1):c.1075G>T (p.Ala359Ser) single nucleotide variant Nephronophthisis [RCV002962002] Chr3:121790127 [GRCh38]
Chr3:121508974 [GRCh37]
Chr3:3q13.33		 uncertain significance
NM_001023570.4(IQCB1):c.264-5T>A single nucleotide variant Nephronophthisis [RCV003044750] Chr3:121826185 [GRCh38]
Chr3:121545032 [GRCh37]
Chr3:3q13.33		 likely benign
NM_001023570.4(IQCB1):c.115A>C (p.Thr39Pro) single nucleotide variant Nephronophthisis [RCV003047040] Chr3:121828618 [GRCh38]
Chr3:121547465 [GRCh37]
Chr3:3q13.33		 uncertain significance
NM_001023570.4(IQCB1):c.1706G>C (p.Gly569Ala) single nucleotide variant Nephronophthisis [RCV002833148] Chr3:121770436 [GRCh38]
Chr3:121489283 [GRCh37]
Chr3:3q13.33		 uncertain significance
NM_001023570.4(IQCB1):c.1411-12C>G single nucleotide variant Nephronophthisis [RCV002833222] Chr3:121772725 [GRCh38]
Chr3:121491572 [GRCh37]
Chr3:3q13.33		 likely benign
NM_001023570.4(IQCB1):c.1471C>T (p.Gln491Ter) single nucleotide variant Nephronophthisis [RCV002937490] Chr3:121772653 [GRCh38]
Chr3:121491500 [GRCh37]
Chr3:3q13.33		 pathogenic
NM_001023570.4(IQCB1):c.1498G>A (p.Glu500Lys) single nucleotide variant Nephronophthisis [RCV002962945] Chr3:121772626 [GRCh38]
Chr3:121491473 [GRCh37]
Chr3:3q13.33		 uncertain significance
NM_001023570.4(IQCB1):c.1410+13T>C single nucleotide variant Nephronophthisis [RCV003027741] Chr3:121781730 [GRCh38]
Chr3:121500577 [GRCh37]
Chr3:3q13.33		 likely benign
NM_001023570.4(IQCB1):c.1184A>T (p.Gln395Leu) single nucleotide variant Nephronophthisis [RCV002962707] Chr3:121788378 [GRCh38]
Chr3:121507225 [GRCh37]
Chr3:3q13.33		 uncertain significance
NM_001023570.4(IQCB1):c.1399A>G (p.Arg467Gly) single nucleotide variant Nephronophthisis [RCV003009395] Chr3:121781754 [GRCh38]
Chr3:121500601 [GRCh37]
Chr3:3q13.33		 uncertain significance
NM_001023570.4(IQCB1):c.1532_1536dup (p.Gln513Ter) duplication Nephronophthisis [RCV002770225]|Senior-Loken syndrome 5 [RCV003464598] Chr3:121772587..121772588 [GRCh38]
Chr3:121491434..121491435 [GRCh37]
Chr3:3q13.33		 pathogenic
NM_001023570.4(IQCB1):c.1465C>A (p.Arg489=) single nucleotide variant Nephronophthisis [RCV002899331] Chr3:121772659 [GRCh38]
Chr3:121491506 [GRCh37]
Chr3:3q13.33		 likely benign
NM_001023570.4(IQCB1):c.64G>A (p.Glu22Lys) single nucleotide variant Inborn genetic diseases [RCV002809406] Chr3:121828897 [GRCh38]
Chr3:121547744 [GRCh37]
Chr3:3q13.33		 uncertain significance
NM_001023570.4(IQCB1):c.1567+20T>C single nucleotide variant Nephronophthisis [RCV003061569] Chr3:121772537 [GRCh38]
Chr3:121491384 [GRCh37]
Chr3:3q13.33		 likely benign
NM_001023570.4(IQCB1):c.688G>A (p.Ala230Thr) single nucleotide variant Nephronophthisis [RCV002921989] Chr3:121799274 [GRCh38]
Chr3:121518121 [GRCh37]
Chr3:3q13.33		 uncertain significance
NM_001023570.4(IQCB1):c.861G>T (p.Gln287His) single nucleotide variant Nephronophthisis [RCV003063277] Chr3:121797133 [GRCh38]
Chr3:121515980 [GRCh37]
Chr3:3q13.33		 uncertain significance
NM_001023570.4(IQCB1):c.1655C>T (p.Ala552Val) single nucleotide variant Nephronophthisis [RCV002577194] Chr3:121770487 [GRCh38]
Chr3:121489334 [GRCh37]
Chr3:3q13.33		 uncertain significance
NM_001023570.4(IQCB1):c.623A>G (p.Tyr208Cys) single nucleotide variant Nephronophthisis [RCV002672004] Chr3:121799339 [GRCh38]
Chr3:121518186 [GRCh37]
Chr3:3q13.33		 uncertain significance
NM_001023570.4(IQCB1):c.101-1G>T single nucleotide variant Nephronophthisis [RCV002714861] Chr3:121828633 [GRCh38]
Chr3:121547480 [GRCh37]
Chr3:3q13.33		 likely pathogenic
NM_001023570.4(IQCB1):c.718T>G (p.Ser240Ala) single nucleotide variant Inborn genetic diseases [RCV002714113] Chr3:121799244 [GRCh38]
Chr3:121518091 [GRCh37]
Chr3:3q13.33		 uncertain significance
NM_001023570.4(IQCB1):c.767-11T>C single nucleotide variant Nephronophthisis [RCV002833906] Chr3:121797238 [GRCh38]
Chr3:121516085 [GRCh37]
Chr3:3q13.33		 likely benign
NM_001023570.4(IQCB1):c.264-18C>A single nucleotide variant Nephronophthisis [RCV003028821] Chr3:121826198 [GRCh38]
Chr3:121545045 [GRCh37]
Chr3:3q13.33		 likely benign
NM_001023570.4(IQCB1):c.1190A>G (p.His397Arg) single nucleotide variant Nephronophthisis [RCV003092239] Chr3:121788372 [GRCh38]
Chr3:121507219 [GRCh37]
Chr3:3q13.33		 uncertain significance
NM_001023570.4(IQCB1):c.664C>T (p.Pro222Ser) single nucleotide variant Nephronophthisis [RCV003032251] Chr3:121799298 [GRCh38]
Chr3:121518145 [GRCh37]
Chr3:3q13.33		 uncertain significance
NM_001023570.4(IQCB1):c.1125T>G (p.His375Gln) single nucleotide variant Nephronophthisis [RCV002609167] Chr3:121790077 [GRCh38]
Chr3:121508924 [GRCh37]
Chr3:3q13.33		 uncertain significance
NM_001023570.4(IQCB1):c.487+9A>T single nucleotide variant Nephronophthisis [RCV002633586] Chr3:121808907 [GRCh38]
Chr3:121527754 [GRCh37]
Chr3:3q13.33		 likely benign
NM_001023570.4(IQCB1):c.1411-6T>A single nucleotide variant Nephronophthisis [RCV002676714] Chr3:121772719 [GRCh38]
Chr3:121491566 [GRCh37]
Chr3:3q13.33		 uncertain significance
NM_001023570.4(IQCB1):c.1059A>G (p.Gln353=) single nucleotide variant Nephronophthisis [RCV002633361] Chr3:121790143 [GRCh38]
Chr3:121508990 [GRCh37]
Chr3:3q13.33		 likely benign
NM_001023570.4(IQCB1):c.406G>C (p.Asp136His) single nucleotide variant Inborn genetic diseases [RCV003278030] Chr3:121808997 [GRCh38]
Chr3:121527844 [GRCh37]
Chr3:3q13.33		 uncertain significance
NM_001023570.4(IQCB1):c.679A>G (p.Arg227Gly) single nucleotide variant Inborn genetic diseases [RCV003259367] Chr3:121799283 [GRCh38]
Chr3:121518130 [GRCh37]
Chr3:3q13.33		 uncertain significance
NM_001023570.4(IQCB1):c.1491G>C (p.Arg497Ser) single nucleotide variant Inborn genetic diseases [RCV003209474] Chr3:121772633 [GRCh38]
Chr3:121491480 [GRCh37]
Chr3:3q13.33		 uncertain significance
NM_001023570.4(IQCB1):c.1101G>C (p.Gln367His) single nucleotide variant Inborn genetic diseases [RCV003308479] Chr3:121790101 [GRCh38]
Chr3:121508948 [GRCh37]
Chr3:3q13.33		 uncertain significance
NM_001023570.4(IQCB1):c.1567+2_*2del deletion Senior-Loken syndrome 5 [RCV003319562]   uncertain significance
NM_001023570.4(IQCB1):c.1332G>A (p.Trp444Ter) single nucleotide variant Senior-Loken syndrome 5 [RCV003330255] Chr3:121781821 [GRCh38]
Chr3:121500668 [GRCh37]
Chr3:3q13.33		 pathogenic
GRCh38/hg38 3q11.1-21.2(chr3:93979547-124774010)x1 copy number loss Chromosome 3q13.31 deletion syndrome [RCV003327614] Chr3:93979547..124774010 [GRCh38]
Chr3:3q11.1-21.2		 pathogenic
NM_001023570.4(IQCB1):c.344T>G (p.Phe115Cys) single nucleotide variant Inborn genetic diseases [RCV003374974] Chr3:121826100 [GRCh38]
Chr3:121544947 [GRCh37]
Chr3:3q13.33		 uncertain significance
NM_001023570.4(IQCB1):c.1045_1048delinsGGGGG (p.Lys349fs) indel Senior-Loken syndrome 5 [RCV003461748] Chr3:121790154..121790157 [GRCh38]
Chr3:121509001..121509004 [GRCh37]
Chr3:3q13.33		 likely pathogenic
NM_001023570.4(IQCB1):c.577C>T (p.Gln193Ter) single nucleotide variant Senior-Loken syndrome 5 [RCV003461751] Chr3:121807354 [GRCh38]
Chr3:121526201 [GRCh37]
Chr3:3q13.33		 likely pathogenic
NM_001023570.4(IQCB1):c.781del (p.Leu260_Leu261insTer) deletion Senior-Loken syndrome 5 [RCV003461753] Chr3:121797213 [GRCh38]
Chr3:121516060 [GRCh37]
Chr3:3q13.33		 likely pathogenic
NM_001023570.4(IQCB1):c.150_153del (p.Gln51fs) deletion Senior-Loken syndrome 5 [RCV003469871] Chr3:121828580..121828583 [GRCh38]
Chr3:121547427..121547430 [GRCh37]
Chr3:3q13.33		 likely pathogenic
NM_001023570.4(IQCB1):c.151C>T (p.Gln51Ter) single nucleotide variant Senior-Loken syndrome 5 [RCV003461754] Chr3:121828582 [GRCh38]
Chr3:121547429 [GRCh37]
Chr3:3q13.33		 likely pathogenic
NM_001023570.4(IQCB1):c.1602del (p.Glu534fs) deletion Senior-Loken syndrome 5 [RCV003469870] Chr3:121770540 [GRCh38]
Chr3:121489387 [GRCh37]
Chr3:3q13.33		 likely pathogenic
NM_001023570.4(IQCB1):c.488-2A>G single nucleotide variant Senior-Loken syndrome 5 [RCV003469866] Chr3:121807445 [GRCh38]
Chr3:121526292 [GRCh37]
Chr3:3q13.33		 likely pathogenic
NM_001023570.4(IQCB1):c.1051C>T (p.Gln351Ter) single nucleotide variant Senior-Loken syndrome 5 [RCV003469868] Chr3:121790151 [GRCh38]
Chr3:121508998 [GRCh37]
Chr3:3q13.33		 likely pathogenic
NM_001023570.4(IQCB1):c.263+1G>T single nucleotide variant Senior-Loken syndrome 5 [RCV003461749] Chr3:121828469 [GRCh38]
Chr3:121547316 [GRCh37]
Chr3:3q13.33		 likely pathogenic
NM_001023570.4(IQCB1):c.100+1G>A single nucleotide variant Senior-Loken syndrome 5 [RCV003461750] Chr3:121828860 [GRCh38]
Chr3:121547707 [GRCh37]
Chr3:3q13.33		 likely pathogenic
NM_001023570.4(IQCB1):c.481C>T (p.Gln161Ter) single nucleotide variant Senior-Loken syndrome 5 [RCV003461752] Chr3:121808922 [GRCh38]
Chr3:121527769 [GRCh37]
Chr3:3q13.33		 likely pathogenic
NM_001023570.4(IQCB1):c.1056del (p.Leu352fs) deletion Senior-Loken syndrome 5 [RCV003469864] Chr3:121790146 [GRCh38]
Chr3:121508993 [GRCh37]
Chr3:3q13.33		 likely pathogenic
NM_001023570.4(IQCB1):c.1024C>T (p.Gln342Ter) single nucleotide variant Senior-Loken syndrome 5 [RCV003469865] Chr3:121790178 [GRCh38]
Chr3:121509025 [GRCh37]
Chr3:3q13.33		 likely pathogenic
NM_001023570.4(IQCB1):c.1557dup (p.Gln520fs) duplication Senior-Loken syndrome 5 [RCV003469867] Chr3:121772566..121772567 [GRCh38]
Chr3:121491413..121491414 [GRCh37]
Chr3:3q13.33		 likely pathogenic
NM_001023570.4(IQCB1):c.628dup (p.Ile210fs) duplication Senior-Loken syndrome 5 [RCV003469869] Chr3:121799333..121799334 [GRCh38]
Chr3:121518180..121518181 [GRCh37]
Chr3:3q13.33		 likely pathogenic
NM_001023570.4(IQCB1):c.150A>G (p.Lys50=) single nucleotide variant Nephronophthisis [RCV003879202] Chr3:121828583 [GRCh38]
Chr3:121547430 [GRCh37]
Chr3:3q13.33		 likely benign
NM_001023570.4(IQCB1):c.1567+10C>G single nucleotide variant Nephronophthisis [RCV003825623] Chr3:121772547 [GRCh38]
Chr3:121491394 [GRCh37]
Chr3:3q13.33		 likely benign
NM_001023570.4(IQCB1):c.488-5T>G single nucleotide variant Nephronophthisis [RCV003749497] Chr3:121807448 [GRCh38]
Chr3:121526295 [GRCh37]
Chr3:3q13.33		 likely benign
NM_001023570.4(IQCB1):c.487+17T>C single nucleotide variant Nephronophthisis [RCV003750137] Chr3:121808899 [GRCh38]
Chr3:121527746 [GRCh37]
Chr3:3q13.33		 likely benign
NM_001023570.4(IQCB1):c.1605T>C (p.Pro535=) single nucleotide variant Nephronophthisis [RCV003749171] Chr3:121770537 [GRCh38]
Chr3:121489384 [GRCh37]
Chr3:3q13.33		 likely benign
NM_001023570.4(IQCB1):c.1568-6C>T single nucleotide variant Nephronophthisis [RCV003749290] Chr3:121770580 [GRCh38]
Chr3:121489427 [GRCh37]
Chr3:3q13.33		 likely benign
NM_001023570.4(IQCB1):c.100G>T (p.Glu34Ter) single nucleotide variant Nephronophthisis [RCV003811074]|Senior-Loken syndrome 5 [RCV004573339] Chr3:121828861 [GRCh38]
Chr3:121547708 [GRCh37]
Chr3:3q13.33		 pathogenic|likely pathogenic
NM_001023570.4(IQCB1):c.876+18_876+24del deletion Nephronophthisis [RCV003586479] Chr3:121797094..121797100 [GRCh38]
Chr3:121515941..121515947 [GRCh37]
Chr3:3q13.33		 likely benign
NM_001023570.4(IQCB1):c.1647C>G (p.Ala549=) single nucleotide variant Nephronophthisis [RCV003586444] Chr3:121770495 [GRCh38]
Chr3:121489342 [GRCh37]
Chr3:3q13.33		 likely benign
NM_001023570.4(IQCB1):c.1443G>A (p.Glu481=) single nucleotide variant Nephronophthisis [RCV003838610] Chr3:121772681 [GRCh38]
Chr3:121491528 [GRCh37]
Chr3:3q13.33		 likely benign
NM_001023570.4(IQCB1):c.493C>T (p.Gln165Ter) single nucleotide variant Nephronophthisis [RCV003749071]|Senior-Loken syndrome 5 [RCV004573275] Chr3:121807438 [GRCh38]
Chr3:121526285 [GRCh37]
Chr3:3q13.33		 pathogenic
NM_001023570.4(IQCB1):c.823dup (p.Arg275fs) duplication Nephronophthisis [RCV003588006] Chr3:121797170..121797171 [GRCh38]
Chr3:121516017..121516018 [GRCh37]
Chr3:3q13.33		 pathogenic
NM_001023570.4(IQCB1):c.549A>C (p.Ala183=) single nucleotide variant Nephronophthisis [RCV003748145] Chr3:121807382 [GRCh38]
Chr3:121526229 [GRCh37]
Chr3:3q13.33		 likely benign
NM_001023570.4(IQCB1):c.387A>C (p.Ala129=) single nucleotide variant Nephronophthisis [RCV003819991] Chr3:121826057 [GRCh38]
Chr3:121544904 [GRCh37]
Chr3:3q13.33		 likely benign
NM_001023570.4(IQCB1):c.1314_1315delinsCT (p.Lys438_Lys439delinsAsnTer) indel Nephronophthisis [RCV003747698] Chr3:121781838..121781839 [GRCh38]
Chr3:121500685..121500686 [GRCh37]
Chr3:3q13.33		 pathogenic
NM_001023570.4(IQCB1):c.264-8T>C single nucleotide variant Nephronophthisis [RCV003748698] Chr3:121826188 [GRCh38]
Chr3:121545035 [GRCh37]
Chr3:3q13.33		 likely benign
NM_001023570.4(IQCB1):c.101-6C>T single nucleotide variant Nephronophthisis [RCV003747992] Chr3:121828638 [GRCh38]
Chr3:121547485 [GRCh37]
Chr3:3q13.33		 likely benign
NM_001023570.4(IQCB1):c.948G>A (p.Lys316=) single nucleotide variant Nephronophthisis [RCV003587908] Chr3:121795495 [GRCh38]
Chr3:121514342 [GRCh37]
Chr3:3q13.33		 likely benign
NM_001023570.4(IQCB1):c.393+15A>C single nucleotide variant Nephronophthisis [RCV003587739] Chr3:121826036 [GRCh38]
Chr3:121544883 [GRCh37]
Chr3:3q13.33		 likely benign
NM_001023570.4(IQCB1):c.1130-20A>G single nucleotide variant Nephronophthisis [RCV003841935] Chr3:121788452 [GRCh38]
Chr3:121507299 [GRCh37]
Chr3:3q13.33		 likely benign
NM_001023570.4(IQCB1):c.1752T>C (p.Ser584=) single nucleotide variant Nephronophthisis [RCV003586999] Chr3:121770390 [GRCh38]
Chr3:121489237 [GRCh37]
Chr3:3q13.33		 likely benign
NM_001023570.4(IQCB1):c.1540dup (p.Ile514fs) duplication Senior-Loken syndrome 5 [RCV004515804] Chr3:121772583..121772584 [GRCh38]
Chr3:121491430..121491431 [GRCh37]
Chr3:3q13.33		 likely pathogenic
NM_001023570.4(IQCB1):c.1416T>G (p.Ser472=) single nucleotide variant IQCB1-related disorder [RCV003896973] Chr3:121772708 [GRCh38]
Chr3:121491555 [GRCh37]
Chr3:3q13.33		 likely benign
NM_001023570.4(IQCB1):c.507dup (p.His171fs) duplication Senior-Loken syndrome 5 [RCV004549017] Chr3:121807423..121807424 [GRCh38]
Chr3:121526270..121526271 [GRCh37]
Chr3:3q13.33		 pathogenic
NM_001023570.4(IQCB1):c.263+201del deletion Senior-Loken syndrome 5 [RCV004576757] Chr3:121828269 [GRCh38]
Chr3:121547116 [GRCh37]
Chr3:3q13.33		 pathogenic
NM_001023570.4(IQCB1):c.814C>T (p.Gln272Ter) single nucleotide variant Senior-Loken syndrome 5 [RCV004576754] Chr3:121797180 [GRCh38]
Chr3:121516027 [GRCh37]
Chr3:3q13.33		 pathogenic
NM_001023570.4(IQCB1):c.717dup (p.Ser240fs) duplication Senior-Loken syndrome 5 [RCV004576755] Chr3:121799244..121799245 [GRCh38]
Chr3:121518091..121518092 [GRCh37]
Chr3:3q13.33		 likely pathogenic
NM_001023570.4(IQCB1):c.1342C>T (p.Gln448Ter) single nucleotide variant Senior-Loken syndrome 5 [RCV004576756] Chr3:121781811 [GRCh38]
Chr3:121500658 [GRCh37]
Chr3:3q13.33		 pathogenic
NM_001023570.4(IQCB1):c.1129+1G>A single nucleotide variant Senior-Loken syndrome 5 [RCV004576759] Chr3:121790072 [GRCh38]
Chr3:121508919 [GRCh37]
Chr3:3q13.33		 likely pathogenic
NM_001023570.4(IQCB1):c.479_482del (p.Ile160fs) deletion Senior-Loken syndrome 5 [RCV004576760] Chr3:121808921..121808924 [GRCh38]
Chr3:121527768..121527771 [GRCh37]
Chr3:3q13.33		 pathogenic
NM_001023570.4(IQCB1):c.780dup (p.Leu261fs) duplication Senior-Loken syndrome 5 [RCV004576762] Chr3:121797213..121797214 [GRCh38]
Chr3:121516060..121516061 [GRCh37]
Chr3:3q13.33		 likely pathogenic
NM_001023570.4(IQCB1):c.986+1G>T single nucleotide variant Senior-Loken syndrome 5 [RCV004576761] Chr3:121795456 [GRCh38]
Chr3:121514303 [GRCh37]
Chr3:3q13.33		 likely pathogenic
NM_001023570.4(IQCB1):c.487+1G>A single nucleotide variant Senior-Loken syndrome 5 [RCV004576763] Chr3:121808915 [GRCh38]
Chr3:121527762 [GRCh37]
Chr3:3q13.33		 likely pathogenic
NM_001023570.4(IQCB1):c.1568-2A>G single nucleotide variant Senior-Loken syndrome 5 [RCV004576764] Chr3:121770576 [GRCh38]
Chr3:121489423 [GRCh37]
Chr3:3q13.33		 likely pathogenic
NM_001023570.4(IQCB1):c.1082G>T (p.Arg361Ile) single nucleotide variant Inborn genetic diseases [RCV004400812] Chr3:121790120 [GRCh38]
Chr3:121508967 [GRCh37]
Chr3:3q13.33		 uncertain significance
NM_001023570.4(IQCB1):c.824G>A (p.Arg275Lys) single nucleotide variant Inborn genetic diseases [RCV004400814] Chr3:121797170 [GRCh38]
Chr3:121516017 [GRCh37]
Chr3:3q13.33		 uncertain significance
NM_001023570.4(IQCB1):c.236C>T (p.Thr79Ile) single nucleotide variant not provided [RCV004760220]   uncertain significance
NM_001023570.4(IQCB1):c.668G>A (p.Ser223Asn) single nucleotide variant not provided [RCV004798633] Chr3:121799294 [GRCh38]
Chr3:121518141 [GRCh37]
Chr3:3q13.33		 uncertain significance
NM_001023570.4(IQCB1):c.1568-2A>C single nucleotide variant Senior-Loken syndrome 5 [RCV004720642] Chr3:121770576 [GRCh38]
Chr3:121489423 [GRCh37]
Chr3:3q13.33		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1162
Count of miRNA genes:633
Interacting mature miRNAs:702
Transcripts:ENST00000310864, ENST00000349820, ENST00000393650, ENST00000460108, ENST00000462442, ENST00000471726, ENST00000498104
Prediction methods: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
597072502GWAS1168576_Hmultiple sclerosis QTL GWAS1168576 (human)7e-22multiple sclerosis3121824730121824731Human
597191995GWAS1288069_Hsystemic lupus erythematosus QTL GWAS1288069 (human)8e-10systemic lupus erythematosus3121834872121834873Human
597053802GWAS1149876_Hmultiple sclerosis QTL GWAS1149876 (human)5e-20multiple sclerosis3121824051121824052Human
597031033GWAS1127107_Htriglyceride measurement, multiple sclerosis QTL GWAS1127107 (human)7e-08triglyceride measurement, multiple sclerosisblood triglyceride level (CMO:0000118)3121824730121824731Human
597043465GWAS1139539_Hhemoglobin measurement QTL GWAS1139539 (human)8e-09hemoglobin measurementhemoglobin measurement (CMO:0000508)3121788384121788385Human

Markers in Region
D6S2310  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37627,979,747 - 27,980,009UniSTSGRCh37
Build 36628,087,726 - 28,087,988RGDNCBI36
Celera629,585,789 - 29,586,051RGD
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic Map3q21.1UniSTS
HuRef627,787,586 - 27,787,848UniSTS
WI-9285  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373121,489,049 - 121,489,151UniSTSGRCh37
Build 363122,971,739 - 122,971,841RGDNCBI36
Celera3119,898,910 - 119,899,012RGD
Cytogenetic Map3q21.1UniSTS
Cytogenetic Map3q13.33UniSTS
HuRef3118,863,028 - 118,863,130UniSTS
Whitehead-YAC Contig Map3 UniSTS
IQCB1_8973  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373121,488,749 - 121,489,387UniSTSGRCh37
Build 363122,971,439 - 122,972,077RGDNCBI36
Celera3119,898,610 - 119,899,248RGD
HuRef3118,862,728 - 118,863,366UniSTS
RH25274  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37627,979,618 - 27,979,772UniSTSGRCh37
Build 36628,087,597 - 28,087,751RGDNCBI36
Celera629,585,660 - 29,585,814RGD
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic Map3q21.1UniSTS
HuRef627,787,457 - 27,787,611UniSTS
GeneMap99-GB4 RH Map6117.03UniSTS
SHGC-77249  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373121,502,553 - 121,502,678UniSTSGRCh37
Build 363122,985,243 - 122,985,368RGDNCBI36
Celera3119,912,402 - 119,912,527RGD
Cytogenetic Map3q21.1UniSTS
Cytogenetic Map3q13.33UniSTS
HuRef3118,876,500 - 118,876,625UniSTS
TNG Radiation Hybrid Map369117.0UniSTS
GeneMap99-GB4 RH Map3422.0UniSTS
Whitehead-RH Map3532.7UniSTS
NCBI RH Map3929.8UniSTS
D3S2334  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map3q21.1UniSTS
Cytogenetic Map3q13.33UniSTS
HuRef3118,915,456 - 118,915,579UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2439 2788 2253 4974 1726 2351 6 624 1951 465 2270 7306 6472 53 3734 1 852 1744 1617 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_015887 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001023570 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001023571 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001319107 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_134968 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005247911 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005247912 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011513335 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017007537 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017007539 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024453833 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024453834 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047449250 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047449251 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047449252 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047449253 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054348480 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054348481 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054348482 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054348483 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054348484 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054348485 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001740376 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001740377 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001740378 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001740379 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001740380 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001740381 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB062481 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC119736 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL042102 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY714228 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY964667 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY964668 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC005806 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG721354 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM682018 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ068103 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX393165 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471052 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068275 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D25278 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HY195680 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000310864   ⟹   ENSP00000311505
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3121,769,761 - 121,835,060 (-)Ensembl
Ensembl Acc Id: ENST00000349820   ⟹   ENSP00000323756
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3121,769,994 - 121,835,034 (-)Ensembl
Ensembl Acc Id: ENST00000393650   ⟹   ENSP00000377261
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3121,769,994 - 121,835,079 (-)Ensembl
Ensembl Acc Id: ENST00000460108   ⟹   ENSP00000419168
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3121,795,461 - 121,835,033 (-)Ensembl
Ensembl Acc Id: ENST00000462442   ⟹   ENSP00000419376
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3121,828,470 - 121,835,061 (-)Ensembl
Ensembl Acc Id: ENST00000471726
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3121,833,936 - 121,834,992 (-)Ensembl
Ensembl Acc Id: ENST00000498104   ⟹   ENSP00000417832
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3121,797,188 - 121,835,016 (-)Ensembl
RefSeq Acc Id: NM_001023570   ⟹   NP_001018864
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383121,769,761 - 121,835,060 (-)NCBI
GRCh373121,488,608 - 121,553,926 (-)NCBI
Build 363122,971,531 - 123,036,616 (-)NCBI Archive
HuRef3118,862,589 - 118,928,009 (-)ENTREZGENE
CHM1_13121,452,076 - 121,517,407 (-)NCBI
T2T-CHM13v2.03124,489,717 - 124,555,054 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001023571   ⟹   NP_001018865
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383121,769,761 - 121,835,060 (-)NCBI
GRCh373121,488,608 - 121,553,926 (-)NCBI
Build 363122,971,540 - 123,036,563 (-)NCBI Archive
HuRef3118,862,589 - 118,928,009 (-)ENTREZGENE
CHM1_13121,452,076 - 121,517,407 (-)NCBI
T2T-CHM13v2.03124,489,717 - 124,555,054 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001319107   ⟹   NP_001306036
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383121,769,761 - 121,835,060 (-)NCBI
CHM1_13121,452,076 - 121,517,407 (-)NCBI
T2T-CHM13v2.03124,489,717 - 124,555,054 (-)NCBI
Sequence:
RefSeq Acc Id: NR_134968
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383121,769,761 - 121,835,060 (-)NCBI
CHM1_13121,452,076 - 121,517,407 (-)NCBI
T2T-CHM13v2.03124,489,717 - 124,555,054 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005247911   ⟹   XP_005247968
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383121,769,761 - 121,835,060 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017007539   ⟹   XP_016863028
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383121,769,761 - 121,835,060 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047449250   ⟹   XP_047305206
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383121,769,761 - 121,828,951 (-)NCBI
RefSeq Acc Id: XM_047449251   ⟹   XP_047305207
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383121,769,761 - 121,828,951 (-)NCBI
RefSeq Acc Id: XM_047449252   ⟹   XP_047305208
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383121,781,743 - 121,835,060 (-)NCBI
RefSeq Acc Id: XM_047449253   ⟹   XP_047305209
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383121,790,074 - 121,835,060 (-)NCBI
RefSeq Acc Id: XM_054348480   ⟹   XP_054204455
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.03124,489,717 - 124,555,054 (-)NCBI
RefSeq Acc Id: XM_054348481   ⟹   XP_054204456
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.03124,489,717 - 124,548,931 (-)NCBI
RefSeq Acc Id: XM_054348482   ⟹   XP_054204457
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.03124,489,717 - 124,548,931 (-)NCBI
RefSeq Acc Id: XM_054348483   ⟹   XP_054204458
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.03124,501,705 - 124,555,054 (-)NCBI
RefSeq Acc Id: XM_054348484   ⟹   XP_054204459
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.03124,489,717 - 124,555,054 (-)NCBI
RefSeq Acc Id: XM_054348485   ⟹   XP_054204460
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.03124,510,053 - 124,555,054 (-)NCBI
Protein Sequences
Protein RefSeqs NP_001018864 (Get FASTA)   NCBI Sequence Viewer  
  NP_001018865 (Get FASTA)   NCBI Sequence Viewer  
  NP_001306036 (Get FASTA)   NCBI Sequence Viewer  
  XP_005247968 (Get FASTA)   NCBI Sequence Viewer  
  XP_016863028 (Get FASTA)   NCBI Sequence Viewer  
  XP_047305206 (Get FASTA)   NCBI Sequence Viewer  
  XP_047305207 (Get FASTA)   NCBI Sequence Viewer  
  XP_047305208 (Get FASTA)   NCBI Sequence Viewer  
  XP_047305209 (Get FASTA)   NCBI Sequence Viewer  
  XP_054204455 (Get FASTA)   NCBI Sequence Viewer  
  XP_054204456 (Get FASTA)   NCBI Sequence Viewer  
  XP_054204457 (Get FASTA)   NCBI Sequence Viewer  
  XP_054204458 (Get FASTA)   NCBI Sequence Viewer  
  XP_054204459 (Get FASTA)   NCBI Sequence Viewer  
  XP_054204460 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH05806 (Get FASTA)   NCBI Sequence Viewer  
  AAW47233 (Get FASTA)   NCBI Sequence Viewer  
  AAY46029 (Get FASTA)   NCBI Sequence Viewer  
  AAY46030 (Get FASTA)   NCBI Sequence Viewer  
  BAA04968 (Get FASTA)   NCBI Sequence Viewer  
  BAB93506 (Get FASTA)   NCBI Sequence Viewer  
  EAW79499 (Get FASTA)   NCBI Sequence Viewer  
  EAW79500 (Get FASTA)   NCBI Sequence Viewer  
  EAW79501 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000311505
  ENSP00000311505.6
  ENSP00000323756
  ENSP00000323756.7
  ENSP00000377261
  ENSP00000377261.3
  ENSP00000417832.1
  ENSP00000419168.1
  ENSP00000419376.1
GenBank Protein Q15051 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_001018865   ⟸   NM_001023571
- Peptide Label: isoform c
- UniProtKB: Q15051 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001018864   ⟸   NM_001023570
- Peptide Label: isoform a
- UniProtKB: Q15051 (UniProtKB/Swiss-Prot),   Q8NI79 (UniProtKB/Swiss-Prot),   Q5DKQ7 (UniProtKB/Swiss-Prot),   Q3KS09 (UniProtKB/Swiss-Prot),   Q3KS08 (UniProtKB/Swiss-Prot),   Q9BS08 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005247968   ⟸   XM_005247911
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: NP_001306036   ⟸   NM_001319107
- Peptide Label: isoform a
- UniProtKB: Q15051 (UniProtKB/Swiss-Prot),   Q8NI79 (UniProtKB/Swiss-Prot),   Q5DKQ7 (UniProtKB/Swiss-Prot),   Q3KS09 (UniProtKB/Swiss-Prot),   Q3KS08 (UniProtKB/Swiss-Prot),   Q9BS08 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016863028   ⟸   XM_017007539
- Peptide Label: isoform X4
- Sequence:
Ensembl Acc Id: ENSP00000323756   ⟸   ENST00000349820
Ensembl Acc Id: ENSP00000311505   ⟸   ENST00000310864
Ensembl Acc Id: ENSP00000417832   ⟸   ENST00000498104
Ensembl Acc Id: ENSP00000377261   ⟸   ENST00000393650
Ensembl Acc Id: ENSP00000419168   ⟸   ENST00000460108
Ensembl Acc Id: ENSP00000419376   ⟸   ENST00000462442
RefSeq Acc Id: XP_047305207   ⟸   XM_047449251
- Peptide Label: isoform X2
RefSeq Acc Id: XP_047305206   ⟸   XM_047449250
- Peptide Label: isoform X2
RefSeq Acc Id: XP_047305208   ⟸   XM_047449252
- Peptide Label: isoform X3
RefSeq Acc Id: XP_047305209   ⟸   XM_047449253
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054204459   ⟸   XM_054348484
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054204455   ⟸   XM_054348480
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054204457   ⟸   XM_054348482
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054204456   ⟸   XM_054348481
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054204458   ⟸   XM_054348483
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054204460   ⟸   XM_054348485
- Peptide Label: isoform X5
Protein Domains
IQ

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q15051-F1-model_v2 AlphaFold Q15051 1-598 view protein structure

Promoters
RGD ID:6865398
Promoter ID:EPDNEW_H5864
Type:initiation region
Name:IQCB1_1
Description:IQ motif containing B1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H5876  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh383121,834,992 - 121,835,052EPDNEW
RGD ID:6801862
Promoter ID:HG_KWN:45968
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_001023570,   NM_001023571,   NM_018456,   UC003EEM.2,   UC003EEO.1,   UC010HRF.1
Position:
Human AssemblyChrPosition (strand)Source
Build 363123,035,676 - 123,036,832 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:28949 AgrOrtholog
COSMIC IQCB1 COSMIC
Ensembl Genes ENSG00000173226 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000310864 ENTREZGENE
  ENST00000310864.11 UniProtKB/Swiss-Prot
  ENST00000349820 ENTREZGENE
  ENST00000349820.10 UniProtKB/Swiss-Prot
  ENST00000393650 ENTREZGENE
  ENST00000393650.7 UniProtKB/Swiss-Prot
  ENST00000460108.5 UniProtKB/TrEMBL
  ENST00000462442.1 UniProtKB/TrEMBL
  ENST00000498104.1 UniProtKB/TrEMBL
Gene3D-CATH 1.20.5.190 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000173226 GTEx
HGNC ID HGNC:28949 ENTREZGENE
Human Proteome Map IQCB1 Human Proteome Map
InterPro ARM-type_fold UniProtKB/Swiss-Prot
  IQ_motif_EF-hand-BS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  IQCB1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  P-loop_NTPase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:9657 UniProtKB/Swiss-Prot
NCBI Gene 9657 ENTREZGENE
OMIM 609237 OMIM
PANTHER IQ CALMODULIN-BINDING MOTIF-CONTAINING PROTEIN 1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR15673 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam PF00612 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134869761 PharmGKB
PROSITE PS50096 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART SM00015 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF48371 UniProtKB/Swiss-Prot
  SSF52540 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt C9J6Z7_HUMAN UniProtKB/TrEMBL
  C9JVC4_HUMAN UniProtKB/TrEMBL
  C9JXD7_HUMAN UniProtKB/TrEMBL
  IQCB1_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q3KS08 ENTREZGENE
  Q3KS09 ENTREZGENE
  Q5DKQ7 ENTREZGENE
  Q8NI79 ENTREZGENE
  Q9BS08 ENTREZGENE
UniProt Secondary Q3KS08 UniProtKB/Swiss-Prot
  Q3KS09 UniProtKB/Swiss-Prot
  Q5DKQ7 UniProtKB/Swiss-Prot
  Q8NI79 UniProtKB/Swiss-Prot
  Q9BS08 UniProtKB/Swiss-Prot