A total 38 pathogenic variants reported in gene centrosomal protein 41 (CEP41)  
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_018718.3(CEP41):c.33+2T>G SNV
Germline		 Chr7:130440932 Pathogenic Joubert syndrome 15 No Assertion Criteria Provided
 CA369289478 rs_1584916464

1 SubmittersRCV000023823
NM_018718.3(CEP41):c.423-2A>C SNV
Germline		 Chr7:130402801 Pathogenic Joubert syndrome 15 Criteria Provided
Multiple Submitters
No Conflicts
 CA4485569 rs_781815473

3 SubmittersRCV000023825
NM_018718.3(CEP41):c.83C>A (p.Ser28Ter) SNV
Germline		 Chr7:130427969 Pathogenic Joubert syndrome 15 No Assertion Criteria Provided
 CA369287167 rs_1584901211

1 SubmittersRCV000023829
NM_018718.3(CEP41):c.320C>G (p.Ala107Gly) SNV
Germline		 Chr7:130404666 Conflicting classifications of pathogenicity Condition: not provided
Joubert syndrome 15
Familial Autism Spectrum Disorder		 Criteria Provided
Conflicting Classifications
 CA4485603 rs_141025803

4 SubmittersRCV000224397RCV000265231RCV001261713
NM_018718.3(CEP41):c.418C>T (p.Gln140Ter) SNV
Germline		 Chr7:130404568 Pathogenic Condition: not provided
Joubert syndrome 15		 Criteria Provided
Multiple Submitters
No Conflicts
 CA4485584 rs_781848162

2 SubmittersRCV000356697RCV002519041
NM_018718.3(CEP41):c.*593G>A SNV
Germline		 Chr7:130398298 Conflicting classifications of pathogenicity Joubert syndrome 15
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA4485310 rs_186685101

2 SubmittersRCV000347545RCV003430933
NM_018718.3(CEP41):c.1009T>C (p.Ser337Pro) SNV
Germline		 Chr7:130399004 Conflicting classifications of pathogenicity Condition: not provided
Joubert syndrome 15
CEP41-related disorder		 Criteria Provided
Conflicting Classifications
 CA4485409 rs_147444165

6 SubmittersRCV000441831RCV001087358RCV003922589
NM_018718.3(CEP41):c.988G>C (p.Ala330Pro) SNV
Germline		 Chr7:130399025 Conflicting classifications of pathogenicity Joubert syndrome 15
Familial Autism Spectrum Disorder
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA4485413 rs_368525533

5 SubmittersRCV000354546RCV001261664RCV003430934
NM_018718.3(CEP41):c.616C>G (p.Pro206Ala) SNV
Germline		 Chr7:130401907 Conflicting classifications of pathogenicity not specified
Joubert syndrome 15
Familial Autism Spectrum Disorder
Condition: not provided
CEP41-related disorder
Intellectual disability		 Criteria Provided
Conflicting Classifications
 CA4485523 rs_143303575

10 SubmittersRCV000483238RCV000878420RCV001261666RCV001702359RCV003922590RCV005621939
NM_018718.3(CEP41):c.422+7G>A SNV
Germline		 Chr7:130404557 Conflicting classifications of pathogenicity not specified
Condition: not provided
Joubert syndrome 15
CEP41-related disorder		 Criteria Provided
Conflicting Classifications
 CA4485581 rs_190680511

5 SubmittersRCV000419652RCV000514531RCV001412142RCV003932671
NM_018718.3(CEP41):c.278-15A>T SNV
Germline		 Chr7:130404723 Conflicting classifications of pathogenicity not specified
Joubert syndrome 15		 Criteria Provided
Conflicting Classifications
 CA4485611 rs_142452124

5 SubmittersRCV000437175RCV001158769
NM_018718.3(CEP41):c.278-15A>C SNV
Germline		 Chr7:130404723 Conflicting classifications of pathogenicity not specified
Joubert syndrome 15		 Criteria Provided
Conflicting Classifications
 CA4485612 rs_142452124

3 SubmittersRCV000607229RCV001158770
NM_018718.3(CEP41):c.976C>T (p.Arg326Ter) SNV
Germline		 Chr7:130399037 Conflicting classifications of pathogenicity Joubert syndrome 15 Criteria Provided
Conflicting Classifications
 CA4485417 rs_782286004

2 SubmittersRCV000778820
NM_018718.3(CEP41):c.20T>C (p.Ile7Thr) SNV
Germline		 Chr7:130440947 Conflicting classifications of pathogenicity Joubert syndrome 15
Condition: not provided
CEP41-related disorder		 Criteria Provided
Conflicting Classifications
 CA4485751 rs_147494464

4 SubmittersRCV000878049RCV001567050RCV003930457
NM_018718.3(CEP41):c.*1974A>G SNV
Germline		 Chr7:130396917 Conflicting classifications of pathogenicity Joubert syndrome 15
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA4485227 rs_185337247

2 SubmittersRCV001161759RCV003433062
NM_018718.3(CEP41):c.757+11T>C SNV
Germline		 Chr7:130400696 Conflicting classifications of pathogenicity Joubert syndrome 15 Criteria Provided
Conflicting Classifications
 CA166903208 rs_1050676312

2 SubmittersRCV001163693
NM_018718.3(CEP41):c.1033G>T (p.Ala345Ser) SNV
Germline		 Chr7:130398980 Conflicting classifications of pathogenicity Joubert syndrome 15
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA4485403 rs_184146463

2 SubmittersRCV001222269RCV002562551
NM_018718.3(CEP41):c.1033G>A (p.Ala345Thr) SNV
Germline		 Chr7:130398980 Conflicting classifications of pathogenicity Joubert syndrome 15
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA4485402 rs_184146463

2 SubmittersRCV001207993RCV003380878
NM_018718.3(CEP41):c.423-2A>G SNV
Germline		 Chr7:130402801 Pathogenic Joubert syndrome 15
Condition: not provided
CEP41-related disorder		 Criteria Provided
Single Submitter
 CA369289006 rs_781815473

4 SubmittersRCV001227158RCV001573669RCV004757385
NM_018718.3(CEP41):c.602C>G (p.Ser201Cys) SNV
Germline		 Chr7:130401921 Likely pathogenic Familial Autism Spectrum Disorder No Assertion Criteria Provided
 CA166903776 rs_146662384

1 SubmittersRCV001261712
NM_018718.3(CEP41):c.34-2A>G SNV
Germline		 Chr7:130428020 Pathogenic/Likely pathogenic Joubert syndrome 15 Criteria Provided
Multiple Submitters
No Conflicts
 CA369287584 rs_1797714974

2 SubmittersRCV001331069
NM_018718.3(CEP41):c.278-1G>A SNV
Germline		 Chr7:130404709 Likely pathogenic Joubert syndrome 15 Criteria Provided
Single Submitter
 CA369289466 rs_1796956272

1 SubmittersRCV002002640
NM_018718.3(CEP41):c.856C>T (p.Arg286Ter) SNV
Germline		 Chr7:130400156 Pathogenic/Likely pathogenic Joubert syndrome 15
Inborn genetic diseases		 Criteria Provided
Multiple Submitters
No Conflicts
 CA4485448 rs_139123547

3 SubmittersRCV002510731RCV002571602
NM_018718.3(CEP41):c.757+2T>A SNV
Germline		 Chr7:130400705 Likely pathogenic Joubert syndrome 15 Criteria Provided
Single Submitter
 CA369287641 rs_2536052433

1 SubmittersRCV002696155
NM_018718.3(CEP41):c.33+1G>A SNV
Germline		 Chr7:130440933 Pathogenic Inborn genetic diseases Criteria Provided
Single Submitter
 CA369289480 rs_1315958299

1 SubmittersRCV002884323
NM_018718.3(CEP41):c.98-2A>G SNV
Germline		 Chr7:130416968 Likely pathogenic Joubert syndrome 15 Criteria Provided
Single Submitter
 CA369284685 rs_1797356889

1 SubmittersRCV003529792
NM_018718.3(CEP41):c.55C>T (p.Gln19Ter) SNV
Germline		 Chr7:130427997 Pathogenic Joubert syndrome 15 Criteria Provided
Single Submitter

1 SubmittersRCV005080160
NM_018718.3(CEP41):c.643-1G>A SNV
Germline		 Chr7:130400822 Likely pathogenic Joubert syndrome 15 Criteria Provided
Single Submitter

1 SubmittersRCV006527314