Total 111 pathogenic variants reported for Orofaciodigital syndrome I 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_003611.3(OFD1):c.1303A>C (p.Ser435Arg) SNV
Germline		 ChrX:13756659 Pathogenic Orofaciodigital syndrome I No Assertion Criteria Provided
 CA341099 rs_122460150

1 SubmittersRCV000012293
NM_003611.3(OFD1):c.413-10T>G SNV
Germline		 ChrX:13744405 Pathogenic Orofaciodigital syndrome I No Assertion Criteria Provided
 CA341101 rs_312262833

1 SubmittersRCV000012296
NM_003611.3(OFD1):c.1099C>T (p.Arg367Ter) SNV
Germline		 ChrX:13753411 Pathogenic Orofaciodigital syndrome I
Condition: not provided
Familial aplasia of the vermis
Orofaciodigital syndrome I		 Criteria Provided
Multiple Submitters
No Conflicts
 CA343946 rs_312262863

3 SubmittersRCV000033955RCV001781339RCV002514145
NM_003611.3(OFD1):c.121C>T (p.Arg41Ter) SNV
Germline		 ChrX:13736487 Pathogenic Orofaciodigital syndrome I
Familial aplasia of the vermis
Orofaciodigital syndrome I
Joubert syndrome 10
Retinitis pigmentosa 23
Simpson-Golabi-Behmel syndrome type 2		 Criteria Provided
Multiple Submitters
No Conflicts
 CA343958 rs_312262810

2 SubmittersRCV001383219RCV002496509
NM_003611.3(OFD1):c.260A>G (p.Tyr87Cys) SNV
Germline		 ChrX:13736626 Pathogenic Orofaciodigital syndrome I
Familial aplasia of the vermis		 Criteria Provided
Single Submitter
 CA343997 rs_312262818

1 SubmittersRCV000687996
NM_003611.3(OFD1):c.54A>G (p.Glu18=) SNV
Germline		 ChrX:13735289 Conflicting classifications of pathogenicity not specified
Condition: not provided
Familial aplasia of the vermis
Orofaciodigital syndrome I
Primary ciliary dyskinesia		 Criteria Provided
Conflicting Classifications
 CA222228 rs_147114577

6 SubmittersRCV000251169RCV000723696RCV001518323RCV004019554
NM_003611.3(OFD1):c.936-2A>G SNV
Germline		 ChrX:13751247 Conflicting classifications of pathogenicity Condition: not provided
Familial aplasia of the vermis
Orofaciodigital syndrome I
Congenital anomaly of kidney and urinary tract
OFD1-related disorder		 Criteria Provided
Conflicting Classifications
 CA239242 rs_199902986

5 SubmittersRCV000173783RCV001088503RCV001254710RCV004535188
NM_003611.3(OFD1):c.1469A>G (p.Glu490Gly) SNV
Germline		 ChrX:13757717 Conflicting classifications of pathogenicity not specified
Familial aplasia of the vermis
Orofaciodigital syndrome I		 Criteria Provided
Conflicting Classifications
 CA205291 rs_754484224

2 SubmittersRCV000192458RCV002054273
NM_003611.3(OFD1):c.2584T>G (p.Ser862Ala) SNV
Germline		 ChrX:13763840 Conflicting classifications of pathogenicity not specified
Familial aplasia of the vermis
Orofaciodigital syndrome I
Simpson-Golabi-Behmel syndrome type 2
Orofaciodigital syndrome I
Retinitis pigmentosa 23
Joubert syndrome 10
Primary ciliary dyskinesia		 Criteria Provided
Conflicting Classifications
 CA205192 rs_797045846

4 SubmittersRCV000192398RCV001223911RCV002485287RCV004020331
NM_003611.3(OFD1):c.149A>G (p.His50Arg) SNV
Germline		 ChrX:13736515 Conflicting classifications of pathogenicity Joubert syndrome 10
Familial aplasia of the vermis
Orofaciodigital syndrome I
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA279419 rs_863225213

3 SubmittersRCV000201618RCV001307208RCV002307444
NM_003611.3(OFD1):c.2668C>T (p.Arg890Ter) SNV
Germline		 ChrX:13767195 Pathogenic Joubert syndrome 10
Condition: not provided
Orofaciodigital syndrome I
Familial aplasia of the vermis
Retinal dystrophy		 Criteria Provided
Multiple Submitters
No Conflicts
 CA279372 rs_863225212

4 SubmittersRCV000201562RCV000484195RCV001383220RCV003888641
NM_003611.3(OFD1):c.355C>A (p.Pro119Thr) SNV
Germline		 ChrX:13738888 Conflicting classifications of pathogenicity Familial aplasia of the vermis
Orofaciodigital syndrome I
Primary ciliary dyskinesia		 Criteria Provided
Conflicting Classifications
 CA349854 rs_202103941

2 SubmittersRCV002057049RCV004020507
NM_003611.3(OFD1):c.276T>C (p.Ser92=) SNV
Germline		 ChrX:13736642 Conflicting classifications of pathogenicity Condition: not provided
Primary ciliary dyskinesia
Orofaciodigital syndrome I
Familial aplasia of the vermis
OFD1-related disorder		 Criteria Provided
Conflicting Classifications
 CA10351553 rs_201675886

4 SubmittersRCV000334639RCV004021254RCV002059241RCV004535414
NM_003611.3(OFD1):c.2060C>T (p.Pro687Leu) SNV
Germline		 ChrX:13760520 Conflicting classifications of pathogenicity Condition: not provided
History of neurodevelopmental disorder
Orofaciodigital syndrome I
Familial aplasia of the vermis		 Criteria Provided
Conflicting Classifications
 CA10351924 rs_146251034

5 SubmittersRCV000435733RCV000721041RCV000638949
NM_003611.3(OFD1):c.2725C>T (p.Arg909Ter) SNV
Germline		 ChrX:13767252 Pathogenic Orofaciodigital syndrome I
Familial aplasia of the vermis
OFD1-related disorder
Orofaciodigital syndrome I
Primary ciliary dyskinesia		 Criteria Provided
Multiple Submitters
No Conflicts
 CA16616638 rs_1060500123

4 SubmittersRCV000465580RCV002279956RCV003448310RCV003448908
NM_003611.3(OFD1):c.1102C>G (p.Leu368Val) SNV
Germline		 ChrX:13753414 Conflicting classifications of pathogenicity not specified
Orofaciodigital syndrome I
Familial aplasia of the vermis
Primary ciliary dyskinesia		 Criteria Provided
Conflicting Classifications
 CA10351747 rs_192285113

3 SubmittersRCV000500732RCV002056861RCV004023391
NM_003611.3(OFD1):c.1634A>G (p.Gln545Arg) SNV
Germline		 ChrX:13758428 Conflicting classifications of pathogenicity not specified
Condition: not provided
Familial aplasia of the vermis
Orofaciodigital syndrome I		 Criteria Provided
Conflicting Classifications
 CA10351857 rs_373792491

3 SubmittersRCV000517838RCV000867745RCV002527503
NM_003611.3(OFD1):c.2261-6C>G SNV
Germline		 ChrX:13761079 Likely pathogenic Familial aplasia of the vermis
Orofaciodigital syndrome I		 Criteria Provided
Single Submitter
 CA658658929 rs_769923969

1 SubmittersRCV000533164
NM_003611.3(OFD1):c.2025G>T (p.Leu675Phe) SNV
Germline		 ChrX:13760485 Conflicting classifications of pathogenicity Familial aplasia of the vermis
Orofaciodigital syndrome I
Primary ciliary dyskinesia		 Criteria Provided
Conflicting Classifications
 CA10351920 rs_149473481

2 SubmittersRCV000545002RCV004023911
NM_003611.3(OFD1):c.748G>T (p.Glu250Ter) SNV
Germline		 ChrX:13746873 Pathogenic Orofaciodigital syndrome I
Familial aplasia of the vermis		 Criteria Provided
Single Submitter
 CA412338029 rs_1555902866

1 SubmittersRCV000638944
NM_003611.3(OFD1):c.892G>A (p.Gly298Arg) SNV
Germline		 ChrX:13749490 Conflicting classifications of pathogenicity Familial aplasia of the vermis
Orofaciodigital syndrome I
Retinitis pigmentosa 23
Simpson-Golabi-Behmel syndrome type 2
Orofaciodigital syndrome I
Joubert syndrome 10		 Criteria Provided
Conflicting Classifications
 CA10351708 rs_778349684

2 SubmittersRCV000638947RCV000766074
NM_003611.3(OFD1):c.344T>A (p.Ile115Asn) SNV
Unknown		 ChrX:13738877 Pathogenic Orofaciodigital syndrome I Criteria Provided
Single Submitter
 rs_1555901137

1 SubmittersRCV000677727
NM_003611.3(OFD1):c.412+1G>T SNV
Unknown		 ChrX:13739033 Likely pathogenic Orofaciodigital syndrome I Criteria Provided
Single Submitter
 rs_1555901169

1 SubmittersRCV000677728
NM_003611.3(OFD1):c.1313C>G (p.Ser438Ter) SNV
Germline		 ChrX:13756669 Pathogenic Familial aplasia of the vermis
Orofaciodigital syndrome I		 Criteria Provided
Single Submitter
 rs_1569141500

1 SubmittersRCV000706240
NM_003611.3(OFD1):c.324G>A (p.Met108Ile) SNV
Germline		 ChrX:13738857 Conflicting classifications of pathogenicity Orofaciodigital syndrome I
Familial aplasia of the vermis
Orofaciodigital syndrome I
Simpson-Golabi-Behmel syndrome type 2
Joubert syndrome 10
Retinitis pigmentosa 23
Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 rs_763219658

4 SubmittersRCV000692393RCV000766073RCV003133533RCV003330905
NM_003611.3(OFD1):c.312+1G>T SNV
Germline		 ChrX:13736679 Likely pathogenic Familial aplasia of the vermis
Orofaciodigital syndrome I		 Criteria Provided
Single Submitter
 rs_1569102786

1 SubmittersRCV000706155
NM_003611.3(OFD1):c.919G>A (p.Val307Ile) SNV
Germline		 ChrX:13749517 Conflicting classifications of pathogenicity Condition: not provided
Familial aplasia of the vermis
Orofaciodigital syndrome I
Primary ciliary dyskinesia
OFD1-related disorder		 Criteria Provided
Conflicting Classifications
 rs_139444990

4 SubmittersRCV000712459RCV002060889RCV004026820RCV004535766
NM_003611.3(OFD1):c.2192C>T (p.Ser731Phe) SNV
Germline		 ChrX:13760652 Conflicting classifications of pathogenicity Familial aplasia of the vermis
Orofaciodigital syndrome I
Primary ciliary dyskinesia		 Criteria Provided
Conflicting Classifications
 rs_375698090

2 SubmittersRCV002060911RCV004026864
NM_003611.3(OFD1):c.569G>A (p.Arg190His) SNV
Germline		 ChrX:13746370 Conflicting classifications of pathogenicity Orofaciodigital syndrome I
Familial aplasia of the vermis
Primary ciliary dyskinesia		 Criteria Provided
Conflicting Classifications
 rs_150560046

2 SubmittersRCV001520548RCV004027844
NM_003611.3(OFD1):c.1961G>A (p.Arg654Gln) SNV
Germline		 ChrX:13760421 Conflicting classifications of pathogenicity Condition: not provided
Familial aplasia of the vermis
Orofaciodigital syndrome I		 Criteria Provided
Conflicting Classifications
 rs_746612831

2 SubmittersRCV000899438RCV002065676
NM_003611.3(OFD1):c.565C>T (p.Gln189Ter) SNV
Germline		 ChrX:13746366 Pathogenic Familial aplasia of the vermis
Orofaciodigital syndrome I		 Criteria Provided
Single Submitter
 rs_2047298129

1 SubmittersRCV001054764
NM_003611.3(OFD1):c.2669G>A (p.Arg890Gln) SNV
Germline		 ChrX:13767196 Conflicting classifications of pathogenicity Rare genetic intellectual disability
Familial aplasia of the vermis
Orofaciodigital syndrome I
Primary ciliary dyskinesia		 Criteria Provided
Conflicting Classifications

3 SubmittersRCV001257024RCV003770338RCV004035368
NM_003611.3(OFD1):c.2176C>T (p.Arg726Cys) SNV
Germline		 ChrX:13760636 Conflicting classifications of pathogenicity Joubert syndrome 10
Familial aplasia of the vermis
Orofaciodigital syndrome I		 Criteria Provided
Conflicting Classifications
 rs_1260959326

2 SubmittersRCV001262142RCV003770364
NM_003611.3(OFD1):c.1640A>G (p.Lys547Arg) SNV
Unknown		 ChrX:13758434 Likely pathogenic Orofaciodigital syndrome I Criteria Provided
Single Submitter
 rs_2047796952

1 SubmittersRCV001331084
NM_003611.3(OFD1):c.111+2T>G SNV
Germline		 ChrX:13735348 Pathogenic Orofaciodigital syndrome I
Familial aplasia of the vermis		 Criteria Provided
Single Submitter
 rs_312262809

1 SubmittersRCV001380141
NM_003611.3(OFD1):c.1015G>A (p.Glu339Lys) SNV
Germline		 ChrX:13751328 Conflicting classifications of pathogenicity Orofaciodigital syndrome I
Familial aplasia of the vermis
Condition: not provided
OFD1-related disorder		 Criteria Provided
Conflicting Classifications
 rs_1374240720

3 SubmittersRCV001430906RCV003442882RCV004540312
NM_003611.3(OFD1):c.494C>T (p.Ser165Leu) SNV
Germline		 ChrX:13744496 Conflicting classifications of pathogenicity Orofaciodigital syndrome I
Familial aplasia of the vermis
Orofaciodigital syndrome I
Retinitis pigmentosa 23
Simpson-Golabi-Behmel syndrome type 2
Joubert syndrome 10
Primary ciliary dyskinesia		 Criteria Provided
Conflicting Classifications
 rs_756793358

3 SubmittersRCV001517035RCV002501798RCV004037941
NM_003611.3(OFD1):c.1742G>A (p.Cys581Tyr) SNV
Germline		 ChrX:13760202 Conflicting classifications of pathogenicity Orofaciodigital syndrome I
Familial aplasia of the vermis
Primary ciliary dyskinesia		 Criteria Provided
Conflicting Classifications
 rs_201230660

2 SubmittersRCV001521664RCV004037954
NM_003611.3(OFD1):c.1411+1G>A SNV
Unknown		 ChrX:13756768 Pathogenic Retinitis pigmentosa 23
Simpson-Golabi-Behmel syndrome type 2
Orofaciodigital syndrome I
Joubert syndrome 10		 Criteria Provided
Single Submitter
 rs_2147027077

1 SubmittersRCV001535950
NM_003611.3(OFD1):c.2078G>A (p.Gly693Glu) SNV
Germline		 ChrX:13760538 Conflicting classifications of pathogenicity Condition: not provided
not specified
Familial aplasia of the vermis
Orofaciodigital syndrome I		 Criteria Provided
Conflicting Classifications
 rs_754615597

4 SubmittersRCV001572305RCV001821904RCV001866038
NM_003611.3(OFD1):c.1030C>T (p.Arg344Ter) SNV
Germline		 ChrX:13751343 Conflicting classifications of pathogenicity Simpson-Golabi-Behmel syndrome type 2
Joubert syndrome 10
Familial aplasia of the vermis
Orofaciodigital syndrome I
Condition: not provided
Joubert syndrome 10		 Criteria Provided
Conflicting Classifications
 rs_758903488

4 SubmittersRCV001726720RCV002538677RCV003130543RCV002471136
NM_003611.3(OFD1):c.2223A>G (p.Lys741=) SNV
Germline		 ChrX:13760683 Conflicting classifications of pathogenicity Condition: not provided
Familial aplasia of the vermis
Orofaciodigital syndrome I
Primary ciliary dyskinesia		 Criteria Provided
Conflicting Classifications
 rs_1355239331

3 SubmittersRCV001758295RCV002077186RCV004040083
NM_003611.3(OFD1):c.656T>G (p.Leu219Trp) SNV
Germline		 ChrX:13746781 Conflicting classifications of pathogenicity Condition: not provided
Orofaciodigital syndrome I
Familial aplasia of the vermis
Primary ciliary dyskinesia		 Criteria Provided
Conflicting Classifications
 rs_780055525

3 SubmittersRCV001771053RCV001861107RCV004040147
NM_003611.3(OFD1):c.2488+1G>A SNV
Germline		 ChrX:13762445 Likely pathogenic Orofaciodigital syndrome I Criteria Provided
Single Submitter
 rs_2147060461

1 SubmittersRCV001808142
NM_003611.3(OFD1):c.2726G>A (p.Arg909Gln) SNV
Germline		 ChrX:13767253 Conflicting classifications of pathogenicity not specified
Familial aplasia of the vermis
Orofaciodigital syndrome I
Primary ciliary dyskinesia		 Criteria Provided
Conflicting Classifications
 rs_371848382

3 SubmittersRCV001817300RCV002074279RCV004040963
NM_003611.3(OFD1):c.2505A>G (p.Pro835=) SNV
Germline		 ChrX:13763761 Conflicting classifications of pathogenicity not specified
Orofaciodigital syndrome I
Familial aplasia of the vermis		 Criteria Provided
Conflicting Classifications
 rs_759468353

2 SubmittersRCV001820572RCV002542636
NM_003611.3(OFD1):c.1837A>G (p.Thr613Ala) SNV
Germline		 ChrX:13760297 Conflicting classifications of pathogenicity Familial aplasia of the vermis
Orofaciodigital syndrome I
Primary ciliary dyskinesia
OFD1-related disorder		 Criteria Provided
Conflicting Classifications
 rs_775062213

3 SubmittersRCV002086032RCV004045760RCV004531349
NM_003611.3(OFD1):c.2708A>T (p.Glu903Val) SNV
Germline		 ChrX:13767235 Conflicting classifications of pathogenicity Orofaciodigital syndrome I
Familial aplasia of the vermis
Primary ciliary dyskinesia		 Criteria Provided
Conflicting Classifications
 rs_761100130

2 SubmittersRCV002114734RCV004046547
NM_003611.3(OFD1):c.3027C>G (p.Asp1009Glu) SNV
Germline		 ChrX:13769096 Conflicting classifications of pathogenicity Orofaciodigital syndrome I
Familial aplasia of the vermis
Primary ciliary dyskinesia		 Criteria Provided
Conflicting Classifications
 rs_758646234

2 SubmittersRCV002121294RCV004046541
NM_003611.3(OFD1):c.345T>G (p.Ile115Met) SNV
Germline		 ChrX:13738878 Conflicting classifications of pathogenicity Familial aplasia of the vermis
Orofaciodigital syndrome I
Primary ciliary dyskinesia		 Criteria Provided
Conflicting Classifications
 rs_751918276

2 SubmittersRCV002218623RCV004045640
NM_003611.3(OFD1):c.1703G>A (p.Arg568His) SNV
Germline		 ChrX:13760163 Conflicting classifications of pathogenicity Familial aplasia of the vermis
Orofaciodigital syndrome I
Condition: not provided
Retinal dystrophy		 Criteria Provided
Conflicting Classifications
 rs_376012267

3 SubmittersRCV002076640RCV003481258RCV003889018
NM_003611.3(OFD1):c.2101C>T (p.Gln701Ter) SNV
Germline		 ChrX:13760561 Pathogenic Familial aplasia of the vermis
Orofaciodigital syndrome I		 Criteria Provided
Single Submitter

1 SubmittersRCV003064670
NM_003611.3(OFD1):c.2372C>T (p.Pro791Leu) SNV
Germline		 ChrX:13761196 Conflicting classifications of pathogenicity Orofaciodigital syndrome I
Familial aplasia of the vermis
Retinal dystrophy		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV002625211RCV003889261
NM_003611.3(OFD1):c.2388-1G>A SNV
Germline		 ChrX:13762343 Likely pathogenic Familial aplasia of the vermis
Orofaciodigital syndrome I		 Criteria Provided
Single Submitter

1 SubmittersRCV002596430
NM_003611.3(OFD1):c.1809G>T (p.Met603Ile) SNV
Germline		 ChrX:13760269 Conflicting classifications of pathogenicity Orofaciodigital syndrome I
Familial aplasia of the vermis
Primary ciliary dyskinesia		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV002625973RCV004065845
NM_003611.3(OFD1):c.2508G>A (p.Arg836=) SNV
Germline		 ChrX:13763764 Conflicting classifications of pathogenicity Familial aplasia of the vermis
Orofaciodigital syndrome I
OFD1-related disorder		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV002700889RCV004529165
NM_003611.3(OFD1):c.2395C>T (p.Arg799Ter) SNV
Germline		 ChrX:13762351 Pathogenic Familial aplasia of the vermis
Orofaciodigital syndrome I		 Criteria Provided
Single Submitter

1 SubmittersRCV002862271
NM_003611.3(OFD1):c.1743C>A (p.Cys581Ter) SNV
Germline		 ChrX:13760203 Pathogenic Orofaciodigital syndrome I
Familial aplasia of the vermis		 Criteria Provided
Single Submitter

1 SubmittersRCV003055752
NM_003611.3(OFD1):c.2647C>T (p.Arg883Trp) SNV
Germline		 ChrX:13767174 Conflicting classifications of pathogenicity Familial aplasia of the vermis
Orofaciodigital syndrome I
Primary ciliary dyskinesia		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV003777590RCV004081054
NM_003611.3(OFD1):c.2778G>T (p.Leu926=) SNV
Germline		 ChrX:13768074 Conflicting classifications of pathogenicity Condition: not provided
Orofaciodigital syndrome I
Familial aplasia of the vermis		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV003133109RCV003778738
NM_003611.3(OFD1):c.112-11T>G SNV
Germline		 ChrX:13736467 Pathogenic Orofaciodigital syndrome I Criteria Provided
Single Submitter

1 SubmittersRCV003223605
NM_003611.3(OFD1):c.2261-6C>T SNV
Germline		 ChrX:13761079 Conflicting classifications of pathogenicity not specified
Orofaciodigital syndrome I
Familial aplasia of the vermis		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV003388440RCV003778162
NM_003611.3(OFD1):c.1927G>T (p.Glu643Ter) SNV
Germline		 ChrX:13760387 Pathogenic Orofaciodigital syndrome I
Familial aplasia of the vermis		 Criteria Provided
Single Submitter

1 SubmittersRCV003803794
NM_003611.3(OFD1):c.1114G>T (p.Glu372Ter) SNV
Germline		 ChrX:13753426 Pathogenic Orofaciodigital syndrome I
Familial aplasia of the vermis		 Criteria Provided
Single Submitter

1 SubmittersRCV003795182
NM_003611.3(OFD1):c.935+1G>C SNV
Germline		 ChrX:13749534 Likely pathogenic Orofaciodigital syndrome I
Familial aplasia of the vermis		 Criteria Provided
Single Submitter

1 SubmittersRCV003809322