A total 114 pathogenic variants reported in gene IQ motif containing B1 (IQCB1)  
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_001023570.4(IQCB1):c.1381C>T (p.Arg461Ter) SNV
Germline
Chr3:121781772 Pathogenic Senior-Loken syndrome 5
Nephronophthisis
Retinal dystrophy
Condition: not provided
Renal dysplasia and retinal aplasia
Inborn genetic diseases
IQCB1-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
CA115214 rs_121918244

12 SubmittersRCV000001904RCV000230781RCV000505099RCV000681897RCV001003059RCV003362658RCV003398416

NM_001023570.4(IQCB1):c.1069C>T (p.Gln357Ter) SNV
Germline
Chr3:121790133 Pathogenic Senior-Loken syndrome 5 No Assertion Criteria Provided
CA115216 rs_121918245

1 SubmittersRCV000001908

NM_001023570.4(IQCB1):c.1465C>T (p.Arg489Ter) SNV
Germline
Chr3:121772659 Pathogenic Senior-Loken syndrome 5
Nephronophthisis
Retinal dystrophy
Condition: not provided
Leber congenital amaurosis
Criteria Provided
Multiple Submitters
No Conflicts
CA129459 rs_373909351

14 SubmittersRCV000023757RCV000800060RCV001075299RCV005647967RCV006261943

NM_001023570.4(IQCB1):c.1036G>T (p.Glu346Ter) SNV
Germline
Chr3:121790166 Pathogenic Senior-Loken syndrome 5
Nephronophthisis
Leber congenital amaurosis
Criteria Provided
Multiple Submitters
No Conflicts
CA129461 rs_387907009

6 SubmittersRCV000023758RCV000462160RCV000504719

NM_001023570.4(IQCB1):c.1090C>T (p.Arg364Ter) SNV
Germline
Chr3:121790112 Pathogenic Condition: not provided
Nephronophthisis
Senior-Loken syndrome 5
Criteria Provided
Multiple Submitters
No Conflicts
CA200804 rs_727503968

6 SubmittersRCV000174030RCV000707207RCV002250577

NM_001023570.4(IQCB1):c.264-2A>T SNV
Germline
Chr3:121826182 Pathogenic Condition: not provided
Nephronophthisis
Senior-Loken syndrome 5
Criteria Provided
Multiple Submitters
No Conflicts
CA203031 rs_727503969

3 SubmittersRCV000178818RCV002514955RCV004567175

NM_001023570.4(IQCB1):c.877-10G>A SNV
Germline
Chr3:121795576 Conflicting classifications of pathogenicity Condition: not provided
Nephronophthisis
Senior-Loken syndrome 5
Criteria Provided
Conflicting Classifications
CA239156 rs_371057369

4 SubmittersRCV000173719RCV001419219RCV005025273

NM_001023570.4(IQCB1):c.817G>T (p.Glu273Ter) SNV
Germline
Chr3:121797177 Pathogenic/Likely pathogenic Condition: not provided
Senior-Loken syndrome 5
Nephronophthisis
Criteria Provided
Multiple Submitters
No Conflicts
CA203724 rs_794727964

3 SubmittersRCV000180543RCV005025289RCV005089901

NM_001023570.4(IQCB1):c.1549A>T (p.Asn517Tyr) SNV
Germline
Chr3:121772575 Conflicting classifications of pathogenicity Nephronophthisis
not specified
Senior-Loken syndrome 5
Condition: not provided
IQCB1-related disorder
Criteria Provided
Conflicting Classifications
CA336283 rs_139468837

9 SubmittersRCV000196260RCV000351992RCV000299620RCV001562096RCV003947644

NM_001023570.4(IQCB1):c.1441G>A (p.Glu481Lys) SNV
Germline
Chr3:121772683 Conflicting classifications of pathogenicity Condition: not provided
Retinitis pigmentosa
Nephronophthisis
Senior-Loken syndrome 5
IQCB1-related disorder
Criteria Provided
Conflicting Classifications
CA348358 rs_140630401

9 SubmittersRCV000519668RCV000787845RCV001082244RCV001147493RCV003917846

NM_001023570.4(IQCB1):c.214C>T (p.Arg72Ter) SNV
Germline
Chr3:121828519 Pathogenic Condition: not provided
Leber congenital amaurosis
Nephronophthisis
Senior-Loken syndrome 5
Criteria Provided
Multiple Submitters
No Conflicts
CA2567498 rs_201405662

8 SubmittersRCV000329866RCV000504702RCV001384418RCV001535872

NM_001023570.4(IQCB1):c.1611C>T (p.Leu537=) SNV
Germline
Chr3:121770531 Conflicting classifications of pathogenicity Senior-Loken syndrome 5
Nephronophthisis
Criteria Provided
Conflicting Classifications
CA2567043 rs_373762948

2 SubmittersRCV000353462RCV002057823

NM_001023570.4(IQCB1):c.877-11C>T SNV
Germline
Chr3:121795577 Conflicting classifications of pathogenicity Senior-Loken syndrome 5
Nephronophthisis
Criteria Provided
Conflicting Classifications
CA2567259 rs_192296154

2 SubmittersRCV000321425RCV001510260

NM_001023570.4(IQCB1):c.348A>G (p.Leu116=) SNV
Germline
Chr3:121826096 Conflicting classifications of pathogenicity Senior-Loken syndrome 5
Nephronophthisis
IQCB1-related disorder
Criteria Provided
Conflicting Classifications
CA2567463 rs_139299149

3 SubmittersRCV000395791RCV002057826RCV003957770

NM_001023570.4(IQCB1):c.714T>C (p.Ala238=) SNV
Germline
Chr3:121799248 Conflicting classifications of pathogenicity Senior-Loken syndrome 5
Nephronophthisis
Criteria Provided
Conflicting Classifications
CA10616894 rs_886057828

2 SubmittersRCV000341381RCV002523238

NM_001023570.4(IQCB1):c.1129+13A>G SNV
Germline
Chr3:121790060 Conflicting classifications of pathogenicity Senior-Loken syndrome 5
Nephronophthisis
Criteria Provided
Conflicting Classifications
CA2567196 rs_371443898

2 SubmittersRCV000271044RCV002057824

NM_001023570.4(IQCB1):c.1278+1G>A SNV
Unknown
Chr3:121788283 Likely pathogenic Retinal dystrophy No Assertion Criteria Provided
CA354115359 rs_1553711564

1 SubmittersRCV000504874

NM_001023570.4(IQCB1):c.260T>G (p.Leu87Ter) SNV
Unknown
Chr3:121828473 Likely pathogenic Leber congenital amaurosis No Assertion Criteria Provided
CA354112707 rs_1553722736

1 SubmittersRCV000504928

NM_001023570.4(IQCB1):c.1558C>T (p.Gln520Ter) SNV
Germline
Chr3:121772566 Conflicting classifications of pathogenicity Condition: not provided
Senior-Loken syndrome 5
Nephronophthisis
IQCB1-related disorder
Retinal dystrophy
Criteria Provided
Conflicting Classifications
CA2567069 rs_779858591

6 SubmittersRCV000521100RCV001331479RCV001851495RCV003935382RCV004817754

NM_001023570.4(IQCB1):c.775C>T (p.Arg259Cys) SNV
Germline
Chr3:121797219 Conflicting classifications of pathogenicity Condition: not provided
Nephronophthisis
Bardet-Biedl syndrome
Criteria Provided
Conflicting Classifications
CA2567305 rs_778777181

3 SubmittersRCV000596087RCV002532517RCV003224343

NM_001023570.4(IQCB1):c.1363C>T (p.Arg455Ter) SNV
Germline
Chr3:121781790 Pathogenic Renal dysplasia and retinal aplasia
Nephronophthisis
Senior-Loken syndrome 5
Retinal dystrophy
Criteria Provided
Multiple Submitters
No Conflicts
CA82725920 rs_866982675

5 SubmittersRCV000615076RCV002529304RCV004568321RCV004817814

NM_001023570.4(IQCB1):c.994C>T (p.Arg332Ter) SNV
Germline
Chr3:121790208 Pathogenic Retinal dystrophy
Nephronophthisis
Senior-Loken syndrome 5
Criteria Provided
Multiple Submitters
No Conflicts
CA354117313 rs_1189889920

3 SubmittersRCV000678581RCV001855625RCV003465543

NM_001023570.4(IQCB1):c.1504C>T (p.Arg502Ter) SNV
Germline
Chr3:121772620 Pathogenic Nephronophthisis
Retinal dystrophy
Senior-Loken syndrome 5
Criteria Provided
Multiple Submitters
No Conflicts
CA354109989 rs_1280238814

5 SubmittersRCV000689770RCV001075298RCV003459679

NM_001023570.4(IQCB1):c.560T>A (p.Met187Lys) SNV
Germline
Chr3:121807371 Conflicting classifications of pathogenicity Nephronophthisis
Inborn genetic diseases
Senior-Loken syndrome 5
Criteria Provided
Conflicting Classifications
CA2567374 rs_146796158

3 SubmittersRCV000797327RCV004027591RCV005029462

NM_001023570.4(IQCB1):c.1703T>C (p.Leu568Pro) SNV
Germline
Chr3:121770439 Conflicting classifications of pathogenicity Nephronophthisis
IQCB1-related disorder
Condition: not provided
Criteria Provided
Conflicting Classifications
CA2567033 rs_145400780

4 SubmittersRCV000861249RCV003965636RCV004711310

NM_001023570.4(IQCB1):c.782T>G (p.Leu261Arg) SNV
Germline
Chr3:121797212 Conflicting classifications of pathogenicity Nephronophthisis
Senior-Loken syndrome 5
Condition: not provided
IQCB1-related disorder
Criteria Provided
Conflicting Classifications
CA2567303 rs_199959360

6 SubmittersRCV000861997RCV001144731RCV001701452RCV003908168

NM_001023570.4(IQCB1):c.488-1G>A SNV
Germline
Chr3:121807444 Pathogenic/Likely pathogenic Senior-Loken syndrome 5
Nephronophthisis
Criteria Provided
Multiple Submitters
No Conflicts
CA2567390 rs_779696701

4 SubmittersRCV001002717RCV005093028

NM_001023570.4(IQCB1):c.1466G>A (p.Arg489Gln) SNV
Germline
Chr3:121772658 Conflicting classifications of pathogenicity Nephronophthisis
Senior-Loken syndrome 5
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA2567088 rs_778777318

4 SubmittersRCV001041746RCV001147492RCV003243418

NM_001023570.4(IQCB1):c.1656C>G (p.Ala552=) SNV
Germline
Chr3:121770486 Conflicting classifications of pathogenicity Senior-Loken syndrome 5
Nephronophthisis
Criteria Provided
Conflicting Classifications
CA435245997 rs_1399676175

2 SubmittersRCV001146576RCV002070777

NM_001023570.4(IQCB1):c.1393T>C (p.Tyr465His) SNV
Germline
Chr3:121781760 Conflicting classifications of pathogenicity Senior-Loken syndrome 5
Nephronophthisis
Criteria Provided
Conflicting Classifications
CA2567112 rs_147708058

2 SubmittersRCV001147494RCV002032375

NM_001023570.4(IQCB1):c.862G>T (p.Glu288Ter) SNV
Germline
Chr3:121797132 Pathogenic/Likely pathogenic Nephronophthisis
Senior-Loken syndrome 5
Criteria Provided
Multiple Submitters
No Conflicts
CA354120277 rs_1949225959

2 SubmittersRCV001212634RCV003462714

NM_001023570.4(IQCB1):c.413T>G (p.Leu138Ter) SNV
Germline
Chr3:121808990 Likely pathogenic Senior-Loken syndrome 5 Criteria Provided
Single Submitter
CA354106387 rs_2108595322

1 SubmittersRCV001376428

NM_001023570.4(IQCB1):c.1194G>A (p.Trp398Ter) SNV
Germline
Chr3:121788368 Pathogenic Leber congenital amaurosis Criteria Provided
Single Submitter
CA354115668 rs_1948821736

1 SubmittersRCV001591797

NM_001023570.4(IQCB1):c.767-2A>G SNV
Germline
Chr3:121797229 Likely pathogenic Senior-Loken syndrome 5 Criteria Provided
Single Submitter
CA354121128 rs_2108566215

1 SubmittersRCV001808054

NM_001023570.4(IQCB1):c.393+1G>C SNV
Germline
Chr3:121826050 Likely pathogenic Nephronophthisis Criteria Provided
Single Submitter
CA354111258 rs_1226321871

1 SubmittersRCV001984251

NM_001023570.4(IQCB1):c.178C>T (p.Gln60Ter) SNV
Germline
Chr3:121828555 Pathogenic Nephronophthisis Criteria Provided
Single Submitter
CA2567500 rs_776023179

1 SubmittersRCV002037700

NM_001023570.4(IQCB1):c.588-2A>G SNV
Germline
Chr3:121799376 Likely pathogenic Nephronophthisis
Senior-Loken syndrome 5
Criteria Provided
Multiple Submitters
No Conflicts
CA354102184 rs_1250919247

2 SubmittersRCV002027849RCV003471283

NM_001023570.4(IQCB1):c.137T>A (p.Leu46Ter) SNV
Germline
Chr3:121828596 Pathogenic Nephronophthisis Criteria Provided
Single Submitter
CA354114174 rs_2108643223

1 SubmittersRCV001960504

NM_001023570.4(IQCB1):c.601A>T (p.Arg201Ter) SNV
Germline
Chr3:121799361 Pathogenic Nephronophthisis Criteria Provided
Single Submitter
CA354102131 rs_2108571563

1 SubmittersRCV001931581

NM_001023570.4(IQCB1):c.101-1G>A SNV
Germline
Chr3:121828633 Likely pathogenic Nephronophthisis Criteria Provided
Single Submitter
CA354114500 rs_1372024420

1 SubmittersRCV002030541

NM_001023570.4(IQCB1):c.1279G>A (p.Ala427Thr) SNV
Germline
Chr3:121781874 Conflicting classifications of pathogenicity Nephronophthisis
Senior-Loken syndrome 5
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA2567138 rs_776989189

3 SubmittersRCV002020850RCV002507811RCV005343272

NM_001023570.4(IQCB1):c.1333C>T (p.Arg445Ter) SNV
Germline
Chr3:121781820 Pathogenic Nephronophthisis
Senior-Loken syndrome 5
Leber congenital amaurosis
Criteria Provided
Multiple Submitters
No Conflicts
CA82726000 rs_867772426

3 SubmittersRCV001956492RCV003475250RCV005419287

NM_001023570.4(IQCB1):c.90G>C (p.Leu30Phe) SNV
Germline
Chr3:121828871 Conflicting classifications of pathogenicity See cases
Nephronophthisis
Criteria Provided
Conflicting Classifications
CA354114682 rs_1246747991

2 SubmittersRCV002252385RCV003094138

NM_001023570.4(IQCB1):c.1130-1G>C SNV
Germline
Chr3:121788433 Pathogenic Condition: not provided Criteria Provided
Single Submitter
CA354115919 rs_2472403686

1 SubmittersRCV002508865

NM_001023570.4(IQCB1):c.1059A>G (p.Gln353=) SNV
Germline
Chr3:121790143 Conflicting classifications of pathogenicity Nephronophthisis
Senior-Loken syndrome 5
Criteria Provided
Conflicting Classifications
CA435247301 rs_1398281226

2 SubmittersRCV002633361RCV005028294

NM_001023570.4(IQCB1):c.394-1G>A SNV
Germline
Chr3:121809010 Likely pathogenic Nephronophthisis
Melanoma
Criteria Provided
Single Submitter
CA2567430 rs_768014052

2 SubmittersRCV002664315RCV005930675

NM_001023570.4(IQCB1):c.759C>A (p.Cys253Ter) SNV
Germline
Chr3:121799203 Pathogenic Nephronophthisis Criteria Provided
Single Submitter
CA354101394 rs_2472432421

1 SubmittersRCV002700406

NM_001023570.4(IQCB1):c.101-1G>T SNV
Germline
Chr3:121828633 Likely pathogenic Nephronophthisis Criteria Provided
Single Submitter
CA354114487 rs_1372024420

1 SubmittersRCV002714861

NM_001023570.4(IQCB1):c.1510C>T (p.Gln504Ter) SNV
Germline
Chr3:121772614 Pathogenic Nephronophthisis Criteria Provided
Single Submitter
CA2567076 rs_369936231

1 SubmittersRCV002848163

NM_001023570.4(IQCB1):c.1471C>T (p.Gln491Ter) SNV
Germline
Chr3:121772653 Pathogenic Nephronophthisis Criteria Provided
Single Submitter
CA354110327 rs_2547582262

1 SubmittersRCV002937490

NM_001023570.4(IQCB1):c.1332G>A (p.Trp444Ter) SNV
Germline
Chr3:121781821 Pathogenic Senior-Loken syndrome 5 Criteria Provided
Single Submitter
CA2567124 rs_756943739

1 SubmittersRCV003330255

NM_001023570.4(IQCB1):c.263+1G>T SNV
Unknown
Chr3:121828469 Likely pathogenic Senior-Loken syndrome 5 Criteria Provided
Single Submitter
CA82701113 rs_954179017

1 SubmittersRCV003461749

NM_001023570.4(IQCB1):c.100+1G>A SNV
Unknown
Chr3:121828860 Likely pathogenic Senior-Loken syndrome 5
Squamous cell lung carcinoma
Criteria Provided
Single Submitter
CA354114590 rs_2472529375

2 SubmittersRCV003461750RCV005927713

NM_001023570.4(IQCB1):c.1024C>T (p.Gln342Ter) SNV
Unknown
Chr3:121790178 Likely pathogenic Senior-Loken syndrome 5 Criteria Provided
Single Submitter
CA354117093 rs_2472408864

1 SubmittersRCV003469865

NM_001023570.4(IQCB1):c.488-2A>G SNV
Unknown
Chr3:121807445 Likely pathogenic Senior-Loken syndrome 5 Criteria Provided
Single Submitter
CA354105883 rs_1559783611

1 SubmittersRCV003469866

NM_001023570.4(IQCB1):c.577C>T (p.Gln193Ter) SNV
Germline
Chr3:121807354 Likely pathogenic Senior-Loken syndrome 5 Criteria Provided
Multiple Submitters
No Conflicts
CA354105113 rs_2472452131

2 SubmittersRCV003461751

NM_001023570.4(IQCB1):c.1051C>T (p.Gln351Ter) SNV
Unknown
Chr3:121790151 Likely pathogenic Senior-Loken syndrome 5 Criteria Provided
Single Submitter
CA354116875 rs_1948905237

1 SubmittersRCV003469868

NM_001023570.4(IQCB1):c.481C>T (p.Gln161Ter) SNV
Unknown
Chr3:121808922 Likely pathogenic Senior-Loken syndrome 5 Criteria Provided
Single Submitter
CA354106108 rs_1949715312

1 SubmittersRCV003461752

NM_001023570.4(IQCB1):c.151C>T (p.Gln51Ter) SNV
Unknown
Chr3:121828582 Likely pathogenic Senior-Loken syndrome 5 Criteria Provided
Single Submitter
CA354114050 rs_761441175

1 SubmittersRCV003461754

NM_001023570.4(IQCB1):c.493C>T (p.Gln165Ter) SNV
Germline
Chr3:121807438 Pathogenic Nephronophthisis
Senior-Loken syndrome 5
Criteria Provided
Multiple Submitters
No Conflicts
CA2567387 rs_781508757

2 SubmittersRCV003749071RCV004573275

NM_001023570.4(IQCB1):c.100G>T (p.Glu34Ter) SNV
Germline
Chr3:121828861 Pathogenic/Likely pathogenic Nephronophthisis
Senior-Loken syndrome 5
Criteria Provided
Multiple Submitters
No Conflicts
CA354114599 rs_1193996130

2 SubmittersRCV003811074RCV004573339

NM_001023570.4(IQCB1):c.814C>T (p.Gln272Ter) SNV
Unknown
Chr3:121797180 Pathogenic Senior-Loken syndrome 5 Criteria Provided
Single Submitter
rs_760296374

1 SubmittersRCV004576754

NM_001023570.4(IQCB1):c.1342C>T (p.Gln448Ter) SNV
Unknown
Chr3:121781811 Pathogenic Senior-Loken syndrome 5 Criteria Provided
Single Submitter
rs_1948507892

1 SubmittersRCV004576756

NM_001023570.4(IQCB1):c.1129+1G>A SNV
Unknown
Chr3:121790072 Likely pathogenic Senior-Loken syndrome 5 Criteria Provided
Single Submitter
rs_2472408270

1 SubmittersRCV004576759

NM_001023570.4(IQCB1):c.986+1G>T SNV
Unknown
Chr3:121795456 Likely pathogenic Senior-Loken syndrome 5 Criteria Provided
Single Submitter
rs_2472422216

1 SubmittersRCV004576761

NM_001023570.4(IQCB1):c.487+1G>A SNV
Unknown
Chr3:121808915 Likely pathogenic Senior-Loken syndrome 5 Criteria Provided
Single Submitter
rs_1949714664

1 SubmittersRCV004576763

NM_001023570.4(IQCB1):c.1568-2A>G SNV
Unknown
Chr3:121770576 Likely pathogenic Senior-Loken syndrome 5 Criteria Provided
Single Submitter
rs_2547577746

1 SubmittersRCV004576764

NM_001023570.4(IQCB1):c.1203C>G (p.Tyr401Ter) SNV
Germline
Chr3:121788359 Pathogenic Retinal dystrophy No Assertion Criteria Provided

1 SubmittersRCV004814236

NM_001023570.4(IQCB1):c.1345G>T (p.Glu449Ter) SNV
Germline
Chr3:121781808 Likely pathogenic Senior-Loken syndrome 5 Criteria Provided
Single Submitter

1 SubmittersRCV005034915

NM_001023570.4(IQCB1):c.588-1G>A SNV
Germline
Chr3:121799375 Likely pathogenic Senior-Loken syndrome 5 Criteria Provided
Single Submitter

1 SubmittersRCV005031073

NM_001023570.4(IQCB1):c.1501G>T (p.Glu501Ter) SNV
Germline
Chr3:121772623 Pathogenic Nephronophthisis Criteria Provided
Single Submitter

1 SubmittersRCV005153404

NM_001023570.4(IQCB1):c.859C>T (p.Gln287Ter) SNV
Germline
Chr3:121797135 Likely pathogenic Senior-Loken syndrome 5 Criteria Provided
Single Submitter

1 SubmittersRCV005398123

NM_001023570.4(IQCB1):c.394-2A>G SNV
Germline
Chr3:121809011 Pathogenic Senior-Loken syndrome 5 Criteria Provided
Single Submitter

1 SubmittersRCV006255074

NM_001023570.4(IQCB1):c.745A>T (p.Arg249Ter) SNV
Germline
Chr3:121799217 Pathogenic Retinal disorder Criteria Provided
Single Submitter

1 SubmittersRCV006272123