A total 64 pathogenic variants reported in gene transmembrane protein 237 (TMEM237)  
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_001044385.3(TMEM237):c.52C>T (p.Arg18Ter) SNV
Germline		 Chr2:201640915 Pathogenic Joubert syndrome 14
Joubert syndrome
Condition: not provided
Joubert syndrome and related disorders
TMEM237-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA260000 rs_199469707

15 SubmittersRCV000024179RCV000034999RCV001701641RCV002265568RCV004748538
NM_001044385.3(TMEM237):c.677+1G>T SNV
Germline		 Chr2:201629728 Pathogenic Joubert syndrome 14 No Assertion Criteria Provided
 CA260003 rs_793888505

1 SubmittersRCV000024180
NM_001044385.3(TMEM237):c.76C>T (p.Gln26Ter) SNV
Germline		 Chr2:201640264 Pathogenic Joubert syndrome 14 Criteria Provided
Single Submitter
 CA260005 rs_387907131

2 SubmittersRCV000024182
NM_001044385.3(TMEM237):c.943+1G>T SNV
Germline		 Chr2:201628075 Pathogenic Joubert syndrome 14 Criteria Provided
Multiple Submitters
No Conflicts
 CA260008 rs_748510210

4 SubmittersRCV000024183
NM_001044385.3(TMEM237):c.869+1G>A SNV
Germline		 Chr2:201629229 Pathogenic/Likely pathogenic Meckel-Gruber syndrome
Joubert syndrome 14		 Criteria Provided
Multiple Submitters
No Conflicts
 CA186067 rs_730882231

3 SubmittersRCV000162151RCV001332730
NM_001044385.3(TMEM237):c.348G>A (p.Ala116=) SNV
Germline		 Chr2:201633358 Conflicting classifications of pathogenicity not specified
Joubert syndrome 14
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA203261 rs_191125006

9 SubmittersRCV000179367RCV000625459RCV001704855
NM_001044385.3(TMEM237):c.1065C>G (p.Leu355=) SNV
Germline		 Chr2:201626120 Conflicting classifications of pathogenicity not specified
Joubert syndrome 14
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA209023 rs_149240122

8 SubmittersRCV000194685RCV000558256RCV001706169
NM_001044385.3(TMEM237):c.1024A>G (p.Asn342Asp) SNV
Germline		 Chr2:201627334 Conflicting classifications of pathogenicity not specified
Joubert syndrome 14
Joubert syndrome 1		 Criteria Provided
Conflicting Classifications
 CA2056327 rs_372686071

4 SubmittersRCV000243342RCV000402180RCV000986978
NM_001044385.3(TMEM237):c.297A>G (p.Gln99=) SNV
Germline		 Chr2:201633409 Conflicting classifications of pathogenicity not specified
Joubert syndrome 14		 Criteria Provided
Conflicting Classifications
 CA2056521 rs_767711440

3 SubmittersRCV000248915RCV001324708
NM_001044385.3(TMEM237):c.1090G>A (p.Val364Met) SNV
Germline		 Chr2:201626095 Conflicting classifications of pathogenicity Condition: not provided
Joubert syndrome 14
TMEM237-related disorder		 Criteria Provided
Conflicting Classifications
 CA2056302 rs_138509553

5 SubmittersRCV000290466RCV001079934RCV003920116
NM_001044385.3(TMEM237):c.807G>A (p.Ala269=) SNV
Germline		 Chr2:201629292 Conflicting classifications of pathogenicity Joubert syndrome 14 Criteria Provided
Conflicting Classifications
 CA2056390 rs_763452347

2 SubmittersRCV000351259
NM_001044385.3(TMEM237):c.97C>T (p.Arg33Cys) SNV
Germline		 Chr2:201639028 Conflicting classifications of pathogenicity not specified
Joubert syndrome 14		 Criteria Provided
Conflicting Classifications
 CA2056583 rs_200714434

3 SubmittersRCV000413936RCV000945894
NM_001044385.3(TMEM237):c.869+10A>G SNV
Germline		 Chr2:201629220 Conflicting classifications of pathogenicity not specified
Joubert syndrome 14		 Criteria Provided
Conflicting Classifications
 CA2056380 rs_376868416

3 SubmittersRCV000436787RCV001136549
NM_001044385.3(TMEM237):c.418C>T (p.Gln140Ter) SNV
Germline		 Chr2:201632186 Likely pathogenic Joubert syndrome 14 Criteria Provided
Multiple Submitters
No Conflicts
 CA63955656 rs_972221242

2 SubmittersRCV000785906
NM_001044385.3(TMEM237):c.80-2A>G SNV
Germline		 Chr2:201639047 Likely pathogenic Joubert syndrome 14 Criteria Provided
Single Submitter
 CA350316296 rs_1445957469

1 SubmittersRCV000785905
NM_001044385.3(TMEM237):c.901C>T (p.Arg301Ter) SNV
Germline		 Chr2:201628118 Pathogenic Joubert syndrome 14 Criteria Provided
Single Submitter
 CA2056357 rs_775449384

1 SubmittersRCV000801648
NM_001044385.3(TMEM237):c.677+1G>A SNV
Germline		 Chr2:201629728 Pathogenic/Likely pathogenic Joubert syndrome 14 Criteria Provided
Multiple Submitters
No Conflicts
 CA350310030 rs_793888505

2 SubmittersRCV000810011
NM_001044385.3(TMEM237):c.275-2A>G SNV
Germline		 Chr2:201633433 Pathogenic Joubert syndrome 14 Criteria Provided
Single Submitter
 CA350314387 rs_1574582671

1 SubmittersRCV000853295
NM_001044385.3(TMEM237):c.778A>G (p.Asn260Asp) SNV
Germline		 Chr2:201629321 Conflicting classifications of pathogenicity Joubert syndrome 14
Inborn genetic diseases
TMEM237-related disorder		 Criteria Provided
Conflicting Classifications
 CA2056397 rs_151163650

3 SubmittersRCV000878657RCV004027911RCV003948275
NM_001044385.3(TMEM237):c.475A>G (p.Thr159Ala) SNV
Germline		 Chr2:201632129 Conflicting classifications of pathogenicity Joubert syndrome 14
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA2056471 rs_199500256

3 SubmittersRCV000945384RCV001593134
NM_001044385.3(TMEM237):c.183C>T (p.Pro61=) SNV
Germline		 Chr2:201636839 Conflicting classifications of pathogenicity Joubert syndrome 14
Condition: not provided
TMEM237-related disorder		 Criteria Provided
Conflicting Classifications
 CA2056553 rs_372100073

4 SubmittersRCV000964672RCV003883516RCV003972832
NM_001044385.3(TMEM237):c.176G>A (p.Arg59Gln) SNV
Germline		 Chr2:201636846 Conflicting classifications of pathogenicity Joubert syndrome 14
Condition: not provided
Inborn genetic diseases
TMEM237-related disorder		 Criteria Provided
Conflicting Classifications
 CA2056554 rs_199624987

5 SubmittersRCV000879981RCV001563528RCV002536816RCV003908400
NM_001044385.3(TMEM237):c.553+1G>A SNV
Germline		 Chr2:201632050 Pathogenic/Likely pathogenic Joubert syndrome 14
Joubert syndrome and related disorders		 Criteria Provided
Multiple Submitters
No Conflicts
 CA2056462 rs_80034299

2 SubmittersRCV001043477RCV003226424
NM_001044385.3(TMEM237):c.*969A>G SNV
Germline		 Chr2:201623286 Conflicting classifications of pathogenicity Joubert syndrome 14
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA63949530 rs_137925244

2 SubmittersRCV001138688RCV003433023
NM_001044385.3(TMEM237):c.*962A>C SNV
Germline		 Chr2:201623293 Conflicting classifications of pathogenicity Joubert syndrome 14
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA63949534 rs_142403941

2 SubmittersRCV001138689RCV003438668
NM_001044385.3(TMEM237):c.396-13G>A SNV
Germline		 Chr2:201632221 Conflicting classifications of pathogenicity Joubert syndrome 14 Criteria Provided
Conflicting Classifications
 CA2056483 rs_570600190

2 SubmittersRCV001138788
NM_001044385.3(TMEM237):c.136+1G>T SNV
Germline		 Chr2:201638988 Likely pathogenic Joubert syndrome 14
TMEM237-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA2056574 rs_778823927

2 SubmittersRCV001202447RCV003413989
NM_001044385.3(TMEM237):c.1A>G (p.Met1Val) SNV
Germline		 Chr2:201643400 Conflicting classifications of pathogenicity Joubert syndrome 14
not specified		 Criteria Provided
Conflicting Classifications
 CA63963870 rs_957203033

3 SubmittersRCV001230848RCV002241358
NM_001044385.3(TMEM237):c.42+1G>A SNV
Germline		 Chr2:201643358 Conflicting classifications of pathogenicity Joubert syndrome 14
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA350317698 rs_1378726802

5 SubmittersRCV001335600RCV003329402
NM_001044385.3(TMEM237):c.149T>C (p.Leu50Ser) SNV
Germline		 Chr2:201636873 Conflicting classifications of pathogenicity Joubert syndrome 14
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA350316042 rs_1269827788

3 SubmittersRCV001342106RCV004686663
NM_001044385.3(TMEM237):c.241C>T (p.Gln81Ter) SNV
Unknown		 Chr2:201636781 Likely pathogenic Condition: not provided No Assertion Criteria Provided
 CA350315848 rs_2105902326

1 SubmittersRCV001356239
NM_001044385.3(TMEM237):c.890C>G (p.Ser297Ter) SNV
Germline		 Chr2:201628129 Pathogenic Joubert syndrome 14 Criteria Provided
Single Submitter
 CA2056361 rs_768528861

1 SubmittersRCV001389225
NM_001044385.3(TMEM237):c.175C>T (p.Arg59Ter) SNV
Germline		 Chr2:201636847 Pathogenic/Likely pathogenic Joubert syndrome 14 Criteria Provided
Multiple Submitters
No Conflicts
 CA63958480 rs_902145121

2 SubmittersRCV001993335
NM_001044385.3(TMEM237):c.314C>G (p.Ser105Ter) SNV
Germline		 Chr2:201633392 Pathogenic Joubert syndrome 14 Criteria Provided
Single Submitter
 CA350314199 rs_2105900861

1 SubmittersRCV001942264
NM_001044385.3(TMEM237):c.278T>A (p.Leu93Ter) SNV
Germline		 Chr2:201633428 Pathogenic Joubert syndrome 14 Criteria Provided
Single Submitter
 CA350314365 rs_1687223389

1 SubmittersRCV001971939
NM_001044385.3(TMEM237):c.325C>T (p.Arg109Ter) SNV
Germline		 Chr2:201633381 Pathogenic Joubert syndrome 14 Criteria Provided
Single Submitter
 CA2056517 rs_565778005

1 SubmittersRCV001925309
NM_001044385.3(TMEM237):c.676A>G (p.Arg226Gly) SNV
Germline		 Chr2:201629730 Conflicting classifications of pathogenicity Joubert syndrome 14 Criteria Provided
Conflicting Classifications
 CA350310049 rs_2105899169

2 SubmittersRCV002009964
NM_001044385.3(TMEM237):c.636G>A (p.Trp212Ter) SNV
Germline		 Chr2:201629770 Likely pathogenic Joubert syndrome and related disorders Criteria Provided
Single Submitter
 CA350310403 rs_2105899200

1 SubmittersRCV002238587
NM_001044385.3(TMEM237):c.725G>A (p.Trp242Ter) SNV
Germline		 Chr2:201629374 Pathogenic/Likely pathogenic Joubert syndrome 14
Joubert syndrome and related disorders		 Criteria Provided
Multiple Submitters
No Conflicts
 CA2056403 rs_776665329

2 SubmittersRCV003060895RCV003155510
NM_001044385.3(TMEM237):c.396-2A>G SNV
Germline		 Chr2:201632210 Likely pathogenic Joubert syndrome 14 Criteria Provided
Single Submitter
 CA350313565 rs_2105900297

1 SubmittersRCV002862535
NM_001044385.3(TMEM237):c.137-2A>G SNV
Germline		 Chr2:201636887 Likely pathogenic Joubert syndrome 14 Criteria Provided
Single Submitter
 CA350316070 rs_2469505548

1 SubmittersRCV003988673
NM_001044385.3(TMEM237):c.487C>T (p.Gln163Ter) SNV
Germline		 Chr2:201632117 Pathogenic Joubert syndrome 14 Criteria Provided
Single Submitter
 CA350312990 rs_2469498081

1 SubmittersRCV004555395
NM_001044385.3(TMEM237):c.1159+1G>T SNV
Germline		 Chr2:201626025 Likely pathogenic Joubert syndrome 14 Criteria Provided
Single Submitter

1 SubmittersRCV005018413
NM_001044385.3(TMEM237):c.869+1G>T SNV
Germline		 Chr2:201629229 Pathogenic Joubert syndrome 14 Criteria Provided
Single Submitter

1 SubmittersRCV006497345