A total 61 pathogenic variants reported in gene intraflagellar transport 74 (IFT74)  
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_025103.4(IFT74):c.1685-1G>T SNV
Germline		 Chr9:27062617 Pathogenic/Likely pathogenic Bardet-Biedl syndrome 22
Condition: not provided
IFT74-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA5015766 rs_200699377

6 SubmittersRCV000240867RCV002518558RCV003409371
NM_025103.4(IFT74):c.1054G>T (p.Gly352Cys) SNV
Germline		 Chr9:27029104 Likely pathogenic Jeune thoracic dystrophy
Inborn genetic diseases		 Criteria Provided
Single Submitter
 CA5015490 rs_759662469

3 SubmittersRCV000515865RCV005851557
NM_025103.4(IFT74):c.163A>T (p.Ile55Leu) SNV
Germline		 Chr9:26978170 Conflicting classifications of pathogenicity Bardet-Biedl syndrome 22
not specified
Condition: not provided
Inborn genetic diseases
IFT74-related disorder		 Criteria Provided
Conflicting Classifications
 CA5014837 rs_62542664

8 SubmittersRCV000845086RCV001579763RCV001727806RCV002538343RCV003975363
NM_025103.4(IFT74):c.1623+7A>C SNV
Germline		 Chr9:27056466 Conflicting classifications of pathogenicity Condition: not provided
not specified
IFT74-related disorder		 Criteria Provided
Conflicting Classifications
 CA5015714 rs_191860894

4 SubmittersRCV000896322RCV001818715RCV003940778
NM_025103.4(IFT74):c.256G>A (p.Gly86Ser) SNV
Germline		 Chr9:26978263 Pathogenic Spermatogenic failure 58
Multiple Morphological Anomalies of Sperm Flagella (MMAF)		 Criteria Provided
Single Submitter
 CA373124141 rs_2131525662

3 SubmittersRCV001732114RCV001420509
NM_025103.4(IFT74):c.535C>G (p.Gln179Glu) SNV
Germline		 Chr9:26990143 Pathogenic/Likely pathogenic Joubert syndrome 40
Condition: not provided
Inborn genetic diseases
IFT74-related disorder
Bardet-Biedl syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA5015009 rs_150219690

6 SubmittersRCV001731252RCV002032710RCV002538705RCV004743566RCV005361704
NM_025103.4(IFT74):c.306-24A>G SNV
Germline		 Chr9:26984233 Pathogenic Joubert syndrome 40 No Assertion Criteria Provided
 CA2573053166 rs_2131540908

1 SubmittersRCV001731254
NM_025103.4(IFT74):c.85C>T (p.Arg29Ter) SNV
Germline		 Chr9:26962052 Likely pathogenic Joubert syndrome 40 Criteria Provided
Single Submitter
 CA5014798 rs_751583919

2 SubmittersRCV001731255
NM_025103.4(IFT74):c.853G>T (p.Glu285Ter) SNV
Germline		 Chr9:27016970 Pathogenic/Likely pathogenic Joubert syndrome 40
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA191315438 rs_1056125920

3 SubmittersRCV001731256RCV002539803
NM_025103.4(IFT74):c.592G>T (p.Glu198Ter) SNV
Germline		 Chr9:27009024 Pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA373116040 rs_1828923734

1 SubmittersRCV001935697
NM_025103.4(IFT74):c.251C>T (p.Thr84Met) SNV
Germline		 Chr9:26978258 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases
IFT74-related disorder		 Criteria Provided
Conflicting Classifications
 CA5014858 rs_370238286

3 SubmittersRCV002011172RCV002657690RCV003408069
NM_025103.4(IFT74):c.121-1G>T SNV
Germline		 Chr9:26978127 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA373123728 rs_1240407435

1 SubmittersRCV002041101
NM_025103.4(IFT74):c.1204C>T (p.Arg402Ter) SNV
Germline		 Chr9:27047369 Pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA5015590 rs_372505229

1 SubmittersRCV002007572
NM_025103.4(IFT74):c.1024C>T (p.Gln342Ter) SNV
Germline		 Chr9:27029074 Conflicting classifications of pathogenicity Condition: not provided
IFT74-related disorder
Retinal disorder		 Criteria Provided
Conflicting Classifications
 CA5015479 rs_377639405

4 SubmittersRCV001942132RCV003923391RCV006742048
NM_025103.4(IFT74):c.253A>T (p.Lys85Ter) SNV
Germline		 Chr9:26978260 Pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA373124137 rs_2131525635

1 SubmittersRCV001880688
NM_025103.4(IFT74):c.665T>C (p.Met222Thr) SNV
Germline		 Chr9:27009097 Conflicting classifications of pathogenicity Condition: not provided
IFT74-related disorder
Optic atrophy		 Criteria Provided
Conflicting Classifications
 CA5015343 rs_144847384

4 SubmittersRCV002197514RCV003913575RCV004816950
NM_025103.4(IFT74):c.305+1G>A SNV
Germline		 Chr9:26980620 Likely pathogenic Condition: not provided
IFT74-related disorder		 Criteria Provided
Single Submitter
 CA5014886 rs_766986213

2 SubmittersRCV003078893RCV004744563
NM_025103.4(IFT74):c.106C>T (p.Arg36Ter) SNV
Germline		 Chr9:26962073 Pathogenic Condition: not provided
IFT74-related disorder		 Criteria Provided
Single Submitter
 CA191293719 rs_200556379

2 SubmittersRCV003073544RCV003434569
NM_025103.4(IFT74):c.1153C>T (p.Arg385Ter) SNV
Germline		 Chr9:27047318 Pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA5015581 rs_200176242

1 SubmittersRCV002595547
NM_025103.4(IFT74):c.256+1G>C SNV
Germline		 Chr9:26978264 Likely pathogenic Condition: not provided
IFT74-related disorder
Acute myeloid leukemia		 Criteria Provided
Single Submitter
 CA5014862 rs_201953338

3 SubmittersRCV003106546RCV003420542RCV005926993
NM_025103.4(IFT74):c.358G>T (p.Glu120Ter) SNV
Germline		 Chr9:26984309 Pathogenic/Likely pathogenic Condition: not provided
Joubert syndrome 40
IFT74-related disorder
Bardet-Biedl syndrome 22		 Criteria Provided
Multiple Submitters
No Conflicts
 CA373127516 rs_1391036863

4 SubmittersRCV002625958RCV003147778RCV004725329RCV005254118
NM_025103.4(IFT74):c.1129G>T (p.Glu377Ter) SNV
Germline		 Chr9:27047294 Pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA373125111 rs_1819734528

1 SubmittersRCV002643474
NM_025103.4(IFT74):c.64G>T (p.Gly22Ter) SNV
Germline		 Chr9:26962031 Pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA5014794 rs_769696601

1 SubmittersRCV002741298
NM_025103.4(IFT74):c.459C>A (p.Tyr153Ter) SNV
Germline		 Chr9:26984553 Pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA373127977 rs_752539924

1 SubmittersRCV002741893
NM_025103.4(IFT74):c.974+1G>C SNV
Germline		 Chr9:27018688 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA373120866 rs_2489493326

1 SubmittersRCV002838173
NM_025103.4(IFT74):c.587+1G>C SNV
Germline		 Chr9:26990196 Likely pathogenic Condition: not provided
IFT74-related disorder		 Criteria Provided
Single Submitter
 CA373130311 rs_1334193252

2 SubmittersRCV002867087RCV004725404
NM_025103.4(IFT74):c.306-2A>G SNV
Germline		 Chr9:26984255 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA373127292 rs_2489325501

1 SubmittersRCV002889921
NM_025103.4(IFT74):c.952G>T (p.Glu318Ter) SNV
Germline		 Chr9:27018665 Pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA373120689 rs_754711653

1 SubmittersRCV002995618
NM_025103.4(IFT74):c.466-2A>G SNV
Germline		 Chr9:26988667 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA373129411 rs_762790577

1 SubmittersRCV003045222
NM_025103.4(IFT74):c.1399C>T (p.Gln467Ter) SNV
Germline		 Chr9:27055674 Pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA373128108 rs_2489720722

1 SubmittersRCV003017114
NM_025103.4(IFT74):c.1478C>A (p.Ser493Ter) SNV
Germline		 Chr9:27055753 Pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA373128374 rs_1370374325

1 SubmittersRCV003057618
NM_025103.4(IFT74):c.1207-1G>A SNV
Germline		 Chr9:27048147 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA373125624 rs_2489681238

1 SubmittersRCV003047320
NM_025103.4(IFT74):c.1141C>T (p.Gln381Ter) SNV
Germline		 Chr9:27047306 Pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA373125176 rs_764979540

1 SubmittersRCV003665146
NM_025103.4(IFT74):c.588-2A>G SNV
Germline		 Chr9:27009018 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA373115963 rs_2489422392

1 SubmittersRCV003722694
NM_025103.4(IFT74):c.23C>A (p.Ser8Ter) SNV
Germline		 Chr9:26961990 Pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA373119900 rs_757141641

1 SubmittersRCV003858918
NM_025103.4(IFT74):c.789+2T>G SNV
Germline		 Chr9:27011970 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA373117959 rs_1334343532

1 SubmittersRCV003860975
NM_025103.4(IFT74):c.862C>T (p.Arg288Ter) SNV
Germline		 Chr9:27016979 Likely pathogenic IFT74-related disorder No Assertion Criteria Provided

1 SubmittersRCV004741939
NM_025103.4(IFT74):c.544C>T (p.Arg182Ter) SNV
Germline		 Chr9:26990152 Pathogenic IFT74-related disorder
Condition: not provided		 Criteria Provided
Single Submitter

2 SubmittersRCV004745036RCV005103867
NM_025103.4(IFT74):c.1348C>T (p.Gln450Ter) SNV
Germline		 Chr9:27055623 Pathogenic Condition: not provided Criteria Provided
Single Submitter

1 SubmittersRCV005144956
NM_025103.4(IFT74):c.991G>T (p.Glu331Ter) SNV
Germline		 Chr9:27029041 Pathogenic Condition: not provided Criteria Provided
Single Submitter

1 SubmittersRCV005171497
NM_025103.4(IFT74):c.727G>T (p.Glu243Ter) SNV
Germline		 Chr9:27011906 Pathogenic Bardet-Biedl syndrome 22 No Assertion Criteria Provided

1 SubmittersRCV005638017
NM_025103.4(IFT74):c.525+2T>G SNV
Germline		 Chr9:26988730 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter

1 SubmittersRCV006520183
NM_025103.4(IFT74):c.988A>T (p.Lys330Ter) SNV
Germline		 Chr9:27029038 Pathogenic Condition: not provided Criteria Provided
Single Submitter

1 SubmittersRCV006622923
NM_025103.4(IFT74):c.974+1G>A SNV
Germline		 Chr9:27018688 Likely pathogenic Bardet-Biedl syndrome 22 Criteria Provided
Single Submitter

1 SubmittersRCV006705877