A total 71 pathogenic variants reported in gene tectonic family member 1 (TCTN1)  
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_001082538.3(TCTN1):c.221-2A>G SNV
Germline		 Chr12:110619834 Pathogenic Joubert syndrome 13
Condition: not provided		 Criteria Provided
Single Submitter
 CA342750 rs_367543065

2 SubmittersRCV000023788RCV004808556
NM_001082538.3(TCTN1):c.940G>A (p.Ala314Thr) SNV
Germline		 Chr12:110640479 Conflicting classifications of pathogenicity Joubert syndrome 13
Meckel-Gruber syndrome
Joubert syndrome		 Criteria Provided
Conflicting Classifications
 CA272717 rs_199529768

2 SubmittersRCV000147738RCV002055937
NM_001082538.3(TCTN1):c.342-2A>G SNV
Germline		 Chr12:110626360 Pathogenic Global developmental delay
Typical Joubert syndrome MRI findings
Joubert syndrome 13		 Criteria Provided
Multiple Submitters
No Conflicts
 CA249937 rs_730882221

4 SubmittersRCV000162131RCV000201626
NM_001082538.3(TCTN1):c.1471A>T (p.Ile491Phe) SNV
Germline		 Chr12:110645106 Conflicting classifications of pathogenicity not specified
Condition: not provided
Joubert syndrome
Meckel-Gruber syndrome
Joubert syndrome 13		 Criteria Provided
Conflicting Classifications
 CA239794 rs_201894544

5 SubmittersRCV000243338RCV000724004RCV001085845RCV003137704
NM_001082538.3(TCTN1):c.1410C>T (p.Tyr470=) SNV
Germline		 Chr12:110645045 Conflicting classifications of pathogenicity not specified
Condition: not provided
Joubert syndrome
Meckel-Gruber syndrome		 Criteria Provided
Conflicting Classifications
 CA239797 rs_370336923

4 SubmittersRCV000253154RCV000724607RCV001078872
NM_001082538.3(TCTN1):c.1563C>T (p.Tyr521=) SNV
Germline		 Chr12:110647264 Conflicting classifications of pathogenicity Condition: not provided
Joubert syndrome
Meckel-Gruber syndrome
TCTN1-related disorder
not specified		 Criteria Provided
Conflicting Classifications
 CA240051 rs_368907353

6 SubmittersRCV000724086RCV002056921RCV003895182RCV003150968
NM_001082538.3(TCTN1):c.823-4C>G SNV
Germline		 Chr12:110636477 Conflicting classifications of pathogenicity Condition: not provided
Joubert syndrome
Meckel-Gruber syndrome		 Criteria Provided
Conflicting Classifications
 CA247118 rs_754017886

2 SubmittersRCV000179810RCV001852237
NM_001082538.3(TCTN1):c.934G>A (p.Val312Ile) SNV
Germline		 Chr12:110640473 Conflicting classifications of pathogenicity Condition: not provided
Joubert syndrome 13
Joubert syndrome
Meckel-Gruber syndrome		 Criteria Provided
Conflicting Classifications
 CA247572 rs_118057448

6 SubmittersRCV000180204RCV001111502RCV001323802
NM_001082538.3(TCTN1):c.898C>T (p.Arg300Ter) SNV
Germline		 Chr12:110640437 Pathogenic Joubert syndrome 13
Joubert syndrome
Meckel-Gruber syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA352256 rs_751962801

3 SubmittersRCV000207452RCV003765338
NM_001082538.3(TCTN1):c.298G>A (p.Val100Met) SNV
Germline		 Chr12:110619913 Conflicting classifications of pathogenicity not specified
Joubert syndrome 13
Joubert syndrome
Meckel-Gruber syndrome
Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA6786519 rs_145478892

5 SubmittersRCV000250228RCV000403561RCV000545652RCV001555631RCV003165691
NM_001082538.3(TCTN1):c.978+1G>T SNV
Germline		 Chr12:110640518 Pathogenic/Likely pathogenic Condition: not provided
Joubert syndrome 13		 Criteria Provided
Multiple Submitters
No Conflicts
 CA10588538 rs_886039436

2 SubmittersRCV000255837RCV003989511
NM_001082538.3(TCTN1):c.979-2A>G SNV
Germline		 Chr12:110641022 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA10606968 rs_886044606

1 SubmittersRCV000336382
NM_001082538.3(TCTN1):c.987C>T (p.Tyr329=) SNV
Germline		 Chr12:110641032 Conflicting classifications of pathogenicity Joubert syndrome 13
Meckel-Gruber syndrome
Joubert syndrome		 Criteria Provided
Conflicting Classifications
 CA6786785 rs_371066430

2 SubmittersRCV000384153RCV001444758
NM_001082538.3(TCTN1):c.960C>T (p.Cys320=) SNV
Germline		 Chr12:110640499 Conflicting classifications of pathogenicity Joubert syndrome 13
Meckel-Gruber syndrome
Joubert syndrome
Condition: not provided
TCTN1-related disorder		 Criteria Provided
Conflicting Classifications
 CA6786777 rs_145970332

4 SubmittersRCV000324937RCV000544455RCV001705459RCV003910132
NM_001082538.3(TCTN1):c.1291G>C (p.Val431Leu) SNV
Germline		 Chr12:110642349 Conflicting classifications of pathogenicity Joubert syndrome
Meckel-Gruber syndrome
Joubert syndrome 13
Inborn genetic diseases
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA6786858 rs_188817098

6 SubmittersRCV000552632RCV000763790RCV002528337RCV001591218
NM_001082538.3(TCTN1):c.-14G>A SNV
Germline		 Chr12:110614169 Conflicting classifications of pathogenicity Condition: not provided
Joubert syndrome 13		 Criteria Provided
Conflicting Classifications
 CA6786429 rs_762612208

2 SubmittersRCV000841470RCV001114792
NM_001082538.3(TCTN1):c.880C>T (p.Leu294=) SNV
Germline		 Chr12:110640419 Conflicting classifications of pathogenicity Joubert syndrome
Meckel-Gruber syndrome
Joubert syndrome 13		 Criteria Provided
Conflicting Classifications
 CA6786764 rs_371899538

2 SubmittersRCV000860724RCV001111501
NM_001082538.3(TCTN1):c.1454G>A (p.Trp485Ter) SNV
Germline		 Chr12:110645089 Pathogenic Joubert syndrome 13 No Assertion Criteria Provided
 CA386705891 rs_1593376626

1 SubmittersRCV001029772
NM_001082538.3(TCTN1):c.638T>A (p.Leu213Gln) SNV
Germline		 Chr12:110632485 Likely pathogenic Joubert syndrome
Meckel-Gruber syndrome		 Criteria Provided
Single Submitter
 CA386703104 rs_2066300090

1 SubmittersRCV001035552
NM_001082538.3(TCTN1):c.843+1G>C SNV
Germline		 Chr12:110636502 Pathogenic Joubert syndrome
Meckel-Gruber syndrome		 Criteria Provided
Single Submitter
 CA386704052 rs_2066579666

1 SubmittersRCV001035553
NM_001082538.3(TCTN1):c.713-2A>G SNV
Germline		 Chr12:110634668 Likely pathogenic Joubert syndrome
Meckel-Gruber syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA386703709 rs_2066444872

2 SubmittersRCV001219098RCV001586064
NM_001082538.3(TCTN1):c.341+1G>A SNV
Germline		 Chr12:110619957 Likely pathogenic Condition: not provided
Joubert syndrome 13
Joubert syndrome
Meckel-Gruber syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA6786526 rs_200241085

3 SubmittersRCV001545104RCV002471121RCV002032552
NM_001082538.3(TCTN1):c.625-2A>G SNV
Germline		 Chr12:110632470 Likely pathogenic TCTN1-related disorder No Assertion Criteria Provided
 rs_2136045792

1 SubmittersRCV004751032
NM_001082538.3(TCTN1):c.1494+1G>A SNV
Germline		 Chr12:110645130 Likely pathogenic Joubert syndrome 13
Meckel-Gruber syndrome
Joubert syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA386705987 rs_1165243207

3 SubmittersRCV001825289RCV003772349
NM_001082538.3(TCTN1):c.712+1G>A SNV
Germline		 Chr12:110632560 Likely pathogenic Joubert syndrome and related disorders
Meckel-Gruber syndrome
Joubert syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA6786671 rs_200863258

2 SubmittersRCV001844532RCV002543304
NM_001082538.3(TCTN1):c.125T>C (p.Leu42Pro) SNV
Germline		 Chr12:110614307 Conflicting classifications of pathogenicity Joubert syndrome
Meckel-Gruber syndrome
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA386700649 rs_1415245710

2 SubmittersRCV001994991RCV003303528
NM_001082538.3(TCTN1):c.1104+1G>C SNV
Germline		 Chr12:110641150 Likely pathogenic Meckel-Gruber syndrome
Joubert syndrome		 Criteria Provided
Single Submitter
 CA6786807 rs_756402483

1 SubmittersRCV002030713
NM_001082538.3(TCTN1):c.736A>T (p.Lys246Ter) SNV
Germline		 Chr12:110634693 Pathogenic Joubert syndrome
Meckel-Gruber syndrome
Joubert syndrome 13		 Criteria Provided
Multiple Submitters
No Conflicts
 CA6786699 rs_748215804

2 SubmittersRCV001940214RCV002300621
NM_001082538.3(TCTN1):c.568G>T (p.Glu190Ter) SNV
Germline		 Chr12:110628862 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA386702502 rs_1307879089

1 SubmittersRCV002267215
NM_001082538.3(TCTN1):c.262G>A (p.Asp88Asn) SNV
Germline		 Chr12:110619877 Conflicting classifications of pathogenicity Joubert syndrome
Meckel-Gruber syndrome
Developmental disorder
not specified		 Criteria Provided
Conflicting Classifications
 CA6786510 rs_765199264

3 SubmittersRCV002595613RCV003126272RCV004801285
NM_001082538.3(TCTN1):c.1104+2T>C SNV
Germline		 Chr12:110641151 Likely pathogenic Joubert syndrome
Meckel-Gruber syndrome		 Criteria Provided
Single Submitter
 CA386705109 rs_1303964272

1 SubmittersRCV003108852
NM_001082538.3(TCTN1):c.822+1G>A SNV
Germline		 Chr12:110634780 Pathogenic Joubert syndrome
Meckel-Gruber syndrome		 Criteria Provided
Single Submitter
 CA6786709 rs_374065616

1 SubmittersRCV002586667
NM_001082538.3(TCTN1):c.1495-2A>G SNV
Germline		 Chr12:110647194 Likely pathogenic Joubert syndrome
Meckel-Gruber syndrome		 Criteria Provided
Single Submitter
 CA386695121 rs_1475200635

1 SubmittersRCV002575567
NM_001082538.3(TCTN1):c.1494+2T>C SNV
Germline		 Chr12:110645131 Likely pathogenic Joubert syndrome and related disorders
Joubert syndrome
Meckel-Gruber syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA386705991 rs_2067211703

2 SubmittersRCV003331775RCV005228001
NM_001082538.3(TCTN1):c.823-2A>G SNV
Germline		 Chr12:110636479 Likely pathogenic TCTN1-related disorder Criteria Provided
Single Submitter
 CA386703974 rs_2548884767

1 SubmittersRCV003391503
NM_001082538.3(TCTN1):c.1332-1G>C SNV
Germline		 Chr12:110644966 Likely pathogenic Meckel-Gruber syndrome
Joubert syndrome		 Criteria Provided
Single Submitter
 CA386705630 rs_2548929536

1 SubmittersRCV003785532
NM_001082538.3(TCTN1):c.472+1G>C SNV
Germline		 Chr12:110626493 Likely pathogenic Joubert syndrome
Meckel-Gruber syndrome		 Criteria Provided
Single Submitter
 CA6786562 rs_769457761

1 SubmittersRCV003813383
NM_001082538.3(TCTN1):c.1635+1G>A SNV
Germline		 Chr12:110647337 Likely pathogenic Joubert syndrome 13 Criteria Provided
Single Submitter
 CA6786930 rs_760922371

1 SubmittersRCV003984992
NM_001082538.3(TCTN1):c.342-8A>G SNV
Germline		 Chr12:110626354 Likely pathogenic Joubert syndrome and related disorders
Joubert syndrome 13		 Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV004701124RCV005003786
NM_001082538.3(TCTN1):c.291C>A (p.Cys97Ter) SNV
Germline		 Chr12:110619906 Pathogenic Joubert syndrome and related disorders Criteria Provided
Single Submitter

1 SubmittersRCV004771433
NM_001082538.3(TCTN1):c.1455G>A (p.Trp485Ter) SNV
Germline		 Chr12:110645090 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter

1 SubmittersRCV004792252
NM_001082538.3(TCTN1):c.625-1G>A SNV
Germline		 Chr12:110632471 Likely pathogenic Joubert syndrome 13 Criteria Provided
Single Submitter

1 SubmittersRCV005004816
NM_001082538.3(TCTN1):c.843+1G>A SNV
Germline		 Chr12:110636502 Likely pathogenic Joubert syndrome 13 Criteria Provided
Single Submitter

1 SubmittersRCV005006802
NM_001082538.3(TCTN1):c.514G>T (p.Glu172Ter) SNV
Germline		 Chr12:110628808 Pathogenic Joubert syndrome
Meckel-Gruber syndrome		 Criteria Provided
Single Submitter

1 SubmittersRCV005216921
NM_001082538.3(TCTN1):c.3G>C (p.Met1Ile) SNV
Germline		 Chr12:110614185 Likely pathogenic Joubert syndrome 13 Criteria Provided
Single Submitter

1 SubmittersRCV005229657