A total 62 pathogenic variants reported in gene KIAA0753 (KIAA0753)  
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_014804.3(KIAA0753):c.1891A>T (p.Lys631Ter) SNV
Germline		 Chr17:6607209 Pathogenic/Likely pathogenic Orofaciodigital syndrome XV
not specified
Condition: not provided
Joubert syndrome 38
Autosomal recessive KIAA0753-related disorders		 Criteria Provided
Multiple Submitters
No Conflicts
 CA10586689 rs_886038200

6 SubmittersRCV000241533RCV000506654RCV002305473RCV003225054RCV006696368
NM_014804.3(KIAA0753):c.1546-3C>A SNV
Germline		 Chr17:6610163 Conflicting classifications of pathogenicity Orofaciodigital syndrome XV
Condition: not provided
Joubert syndrome 38		 Criteria Provided
Conflicting Classifications
 CA10586690 rs_886038201

4 SubmittersRCV000241537RCV002305474RCV003225055
NM_014804.3(KIAA0753):c.970C>T (p.Arg324Ter) SNV
Germline		 Chr17:6623016 Pathogenic/Likely pathogenic Jeune thoracic dystrophy
Joubert syndrome
Jeune thoracic dystrophy
Condition: not provided
Short-rib thoracic dysplasia 21 without polydactyly
Orofaciodigital syndrome XV
Orofaciodigital syndrome XV
Short-rib thoracic dysplasia 21 without polydactyly		 Criteria Provided
Multiple Submitters
No Conflicts
 CA8330639 rs_746068882

8 SubmittersRCV000590973RCV000984622RCV001269779RCV001559335RCV002248721RCV005355989
NM_014804.3(KIAA0753):c.943C>T (p.Gln315Ter) SNV
Germline		 Chr17:6623043 Pathogenic Jeune thoracic dystrophy
Joubert syndrome
Condition: not provided
Short-rib thoracic dysplasia 21 without polydactyly		 Criteria Provided
Single Submitter
 CA8330644 rs_762771340

3 SubmittersRCV000590971RCV000760916RCV001559336
NM_014804.3(KIAA0753):c.810C>T (p.Tyr270=) SNV
Germline		 Chr17:6624770 Conflicting classifications of pathogenicity Jeune thoracic dystrophy
Jeune thoracic dystrophy
Joubert syndrome
Condition: not provided
Short-rib thoracic dysplasia 21 without polydactyly
Orofaciodigital syndrome XV
Joubert syndrome 38
Short-rib thoracic dysplasia 21 without polydactyly
Orofaciodigital syndrome XV		 Criteria Provided
Conflicting Classifications
 CA8330698 rs_752659088

9 SubmittersRCV000754953RCV000984620RCV001269992RCV001559339RCV005027831RCV004812351
NM_014804.3(KIAA0753):c.1323T>A (p.Tyr441Ter) SNV
Germline		 Chr17:6612141 Pathogenic Condition: not provided Criteria Provided
Multiple Submitters
No Conflicts
 CA8330512 rs_780010794

2 SubmittersRCV000734393
NM_014804.3(KIAA0753):c.2656C>T (p.Arg886Ter) SNV
Germline		 Chr17:6589909 Pathogenic/Likely pathogenic Condition: not provided
Orofaciodigital syndrome XV
KIAA0753-related disorder
Short-rib thoracic dysplasia 21 without polydactyly
Orofaciodigital syndrome XV		 Criteria Provided
Multiple Submitters
No Conflicts
 CA8330086 rs_370840009

5 SubmittersRCV000760915RCV001330561RCV002280140RCV005357988
NM_014804.3(KIAA0753):c.2678C>G (p.Pro893Arg) SNV
Germline		 Chr17:6589887 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA8330076 rs_112740973

3 SubmittersRCV000924070RCV003259017
NM_014804.3(KIAA0753):c.661C>T (p.Arg221Ter) SNV
Germline		 Chr17:6628174 Pathogenic/Likely pathogenic Condition: not provided
Orofaciodigital syndrome XV
Short-rib thoracic dysplasia 21 without polydactyly		 Criteria Provided
Multiple Submitters
No Conflicts
 CA8330732 rs_774799042

3 SubmittersRCV000996470RCV005359732
NM_014804.3(KIAA0753):c.769A>G (p.Arg257Gly) SNV
Germline		 Chr17:6624811 Pathogenic Joubert syndrome 38 No Assertion Criteria Provided
 CA397413707 rs_2150895254

1 SubmittersRCV001559135
NM_014804.3(KIAA0753):c.2359-1G>C SNV
Germline		 Chr17:6595054 Pathogenic Joubert syndrome 38 No Assertion Criteria Provided
 CA397405251 rs_1312865574

1 SubmittersRCV001559136
NM_014804.3(KIAA0753):c.1830-2A>G SNV
Germline		 Chr17:6607272 Pathogenic Short-rib thoracic dysplasia 21 without polydactyly No Assertion Criteria Provided
 CA397408734 rs_1970256904

1 SubmittersRCV001559340
NM_014804.3(KIAA0753):c.1303C>A (p.Gln435Lys) SNV
Germline		 Chr17:6620800 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases
not specified		 Criteria Provided
Conflicting Classifications
 CA8330545 rs_377033831

3 SubmittersRCV002048868RCV002550477RCV005406284
NM_014804.3(KIAA0753):c.1104+1G>A SNV
Germline		 Chr17:6622881 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA8330607 rs_765061108

1 SubmittersRCV001969084
NM_014804.3(KIAA0753):c.1448T>C (p.Val483Ala) SNV
Germline		 Chr17:6612016 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA8330479 rs_763752752

2 SubmittersRCV001874203RCV006362664
NM_014804.3(KIAA0753):c.2296G>A (p.Val766Ile) SNV
Germline		 Chr17:6596220 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA8330201 rs_189105609

2 SubmittersRCV002032082RCV004044868
NM_014804.3(KIAA0753):c.691C>T (p.His231Tyr) SNV
Germline		 Chr17:6628144 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA8330728 rs_199986970

3 SubmittersRCV002041336RCV004988784
NM_014804.3(KIAA0753):c.1315+1G>T SNV
Germline		 Chr17:6620787 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA8330537 rs_771455309

1 SubmittersRCV002051085
NM_014804.3(KIAA0753):c.2593G>A (p.Gly865Arg) SNV
Germline		 Chr17:6589972 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA8330102 rs_371289252

2 SubmittersRCV001926621RCV003289244
NM_014804.3(KIAA0753):c.2413C>T (p.Arg805Ter) SNV
Germline		 Chr17:6594999 Pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA397405015 rs_1349477941

1 SubmittersRCV002042046
NM_014804.3(KIAA0753):c.2116A>G (p.Ile706Val) SNV
Germline		 Chr17:6599293 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases
not specified		 Criteria Provided
Conflicting Classifications
 CA8330260 rs_201648021

3 SubmittersRCV003095565RCV006363151RCV006444031
NM_014804.3(KIAA0753):c.1390A>G (p.Ile464Val) SNV
Germline		 Chr17:6612074 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA8330490 rs_770791666

2 SubmittersRCV003106604RCV004634212
NM_014804.3(KIAA0753):c.757C>T (p.Arg253Ter) SNV
Germline		 Chr17:6624823 Pathogenic/Likely pathogenic Condition: not provided
Inborn genetic diseases
Orofaciodigital syndrome XV
Short-rib thoracic dysplasia 21 without polydactyly		 Criteria Provided
Multiple Submitters
No Conflicts
 CA8330710 rs_774903749

3 SubmittersRCV003116842RCV004245951RCV005363072
NM_014804.3(KIAA0753):c.2173-2A>G SNV
Germline		 Chr17:6596345 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA397405905 rs_1969484465

1 SubmittersRCV002587698
NM_014804.3(KIAA0753):c.379C>T (p.Gln127Ter) SNV
Germline		 Chr17:6628456 Pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA8330776 rs_773280909

1 SubmittersRCV002591240
NM_014804.3(KIAA0753):c.799C>T (p.Arg267Ter) SNV
Germline		 Chr17:6624781 Pathogenic/Likely pathogenic Inborn genetic diseases
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA287367769 rs_868639468

3 SubmittersRCV002640068RCV002680708
NM_014804.3(KIAA0753):c.1920-1G>A SNV
Germline		 Chr17:6606963 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA397407699 rs_2544389796

1 SubmittersRCV002820112
NM_014804.3(KIAA0753):c.888+2T>C SNV
Germline		 Chr17:6623507 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA397413127 rs_2544495371

1 SubmittersRCV002889604
NM_014804.3(KIAA0753):c.1456G>T (p.Val486Leu) SNV
Germline		 Chr17:6612008 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA8330476 rs_376555002

2 SubmittersRCV002967232RCV006377767
NM_014804.3(KIAA0753):c.93+2T>A SNV
Germline		 Chr17:6635009 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA397716627 rs_1342935033

1 SubmittersRCV002988491
NM_014804.3(KIAA0753):c.2333T>C (p.Met778Thr) SNV
Germline		 Chr17:6596183 Likely pathogenic Joubert syndrome 38 Criteria Provided
Single Submitter
 CA8330194 rs_750740421

1 SubmittersRCV003225651
NM_014804.3(KIAA0753):c.446C>G (p.Ser149Ter) SNV
Germline		 Chr17:6628389 Pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA8330767 rs_778471926

1 SubmittersRCV003677244
NM_014804.3(KIAA0753):c.2T>C (p.Met1Thr) SNV
Germline		 Chr17:6635102 Pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA8330866 rs_761257178

1 SubmittersRCV003679690
NM_014804.3(KIAA0753):c.2002C>T (p.Gln668Ter) SNV
Germline		 Chr17:6606880 Pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA397407352 rs_2544388437

1 SubmittersRCV003712746
NM_014804.3(KIAA0753):c.2358+1G>A SNV
Germline		 Chr17:6596157 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA397405355 rs_2544315665

1 SubmittersRCV003714841
NM_014804.3(KIAA0753):c.652G>C (p.Glu218Gln) SNV
Germline		 Chr17:6628183 Conflicting classifications of pathogenicity Inborn genetic diseases
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA8330734 rs_550649513

2 SubmittersRCV005587522RCV003829724
NM_014804.3(KIAA0753):c.347A>G (p.His116Arg) SNV
Germline		 Chr17:6628488 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA8330782 rs_753545653

2 SubmittersRCV003854972RCV005587535
NM_014804.3(KIAA0753):c.148C>T (p.Arg50Ter) SNV
Germline		 Chr17:6628687 Pathogenic Condition: not provided Criteria Provided
Single Submitter

1 SubmittersRCV005069138
NM_014804.3(KIAA0753):c.888+1G>T SNV
Germline		 Chr17:6623508 Likely pathogenic Condition: not provided
Ovarian serous cystadenocarcinoma		 Criteria Provided
Single Submitter

2 SubmittersRCV005085196RCV005937749
NM_014804.3(KIAA0753):c.1109T>A (p.Leu370Ter) SNV
Germline		 Chr17:6620994 Pathogenic Condition: not provided Criteria Provided
Single Submitter

1 SubmittersRCV005121097
NM_014804.3(KIAA0753):c.1226C>G (p.Ser409Ter) SNV
Germline		 Chr17:6620877 Pathogenic Condition: not provided Criteria Provided
Single Submitter

1 SubmittersRCV005165475
NM_014804.3(KIAA0753):c.210C>G (p.Tyr70Ter) SNV
Germline		 Chr17:6628625 Pathogenic Condition: not provided Criteria Provided
Single Submitter

1 SubmittersRCV005172698
NM_014804.3(KIAA0753):c.1324C>T (p.Gln442Ter) SNV
Germline		 Chr17:6612140 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter

1 SubmittersRCV006276896
NM_014804.3(KIAA0753):c.93+1G>A SNV
Germline		 Chr17:6635010 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter

1 SubmittersRCV006486666
NM_014804.3(KIAA0753):c.832G>T (p.Glu278Ter) SNV
Germline		 Chr17:6623565 Pathogenic Condition: not provided Criteria Provided
Single Submitter

1 SubmittersRCV006631891
NM_014804.3(KIAA0753):c.1783C>T (p.Gln595Ter) SNV
Germline		 Chr17:6608394 Likely pathogenic Autosomal recessive KIAA0753-related disorders Criteria Provided
Single Submitter

1 SubmittersRCV006696755
NM_014804.3(KIAA0753):c.719-1G>T SNV
Germline		 Chr17:6624862 Likely pathogenic Condition: not provided No Assertion Criteria Provided

1 SubmittersRCV006700378