A total 430 pathogenic variants reported in gene RPGRIP1 like (RPGRIP1L)  
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_015272.5(RPGRIP1L):c.697A>T (p.Lys233Ter) SNV
Germline		 Chr16:53686512 Pathogenic Joubert syndrome 7
RPGRIP1L-related disorder
Joubert syndrome
Meckel-Gruber syndrome
Joubert syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA251686 rs_121918197

5 SubmittersRCV000001123RCV000367935RCV001385849RCV001831499RCV001781156
NM_015272.5(RPGRIP1L):c.1843A>C (p.Thr615Pro) SNV
Germline		 Chr16:53652844 Pathogenic Joubert syndrome 7
Condition: not provided
Joubert syndrome
Meckel-Gruber syndrome
Joubert syndrome
Joubert syndrome 7
Meckel syndrome, type 5
COACH syndrome 3
Joubert syndrome and related disorders
RPGRIP1L-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA251689 rs_121918198

9 SubmittersRCV000001124RCV000393725RCV000689745RCV001271279RCV002482812RCV003155007RCV004528062
NM_015272.5(RPGRIP1L):c.757C>T (p.Gln253Ter) SNV
Germline		 Chr16:53686452 Pathogenic Joubert syndrome 7
Joubert syndrome
Meckel-Gruber syndrome
Joubert syndrome
Joubert syndrome and related disorders
Joubert syndrome 7
Meckel syndrome, type 5
COACH syndrome 3		 Criteria Provided
Multiple Submitters
No Conflicts
 CA251691 rs_121918199

5 SubmittersRCV000001125RCV001067857RCV001831500RCV003398409RCV005016221
NM_015272.5(RPGRIP1L):c.2083G>C (p.Ala695Pro) SNV
Germline		 Chr16:53652604 Likely pathogenic Joubert syndrome 7
Joubert syndrome		 Criteria Provided
Single Submitter
 CA251694 rs_121918200

2 SubmittersRCV000001126RCV005606630
NM_015272.5(RPGRIP1L):c.394A>T (p.Arg132Ter) SNV
Germline		 Chr16:53692201 Pathogenic Meckel syndrome, type 5
Joubert syndrome
Meckel-Gruber syndrome
Joubert syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA114729 rs_121918201

3 SubmittersRCV000001127RCV001042174RCV006638509
NM_015272.5(RPGRIP1L):c.1033C>T (p.Gln345Ter) SNV
Germline		 Chr16:53671580 Pathogenic Meckel syndrome, type 5
Meckel-Gruber syndrome
Joubert syndrome
Autosomal recessive RPGRIP1L-related disorders		 Criteria Provided
Multiple Submitters
No Conflicts
 CA114732 rs_121918202

3 SubmittersRCV000001128RCV003764506RCV006694407
NM_015272.5(RPGRIP1L):c.2614C>T (p.Gln872Ter) SNV
Germline		 Chr16:53645694 Pathogenic/Likely pathogenic Meckel syndrome, type 5
RPGRIP1L-related disorder
Condition: not provided
Joubert syndrome 7
COACH syndrome 1
Meckel syndrome, type 5
Joubert syndrome
Meckel-Gruber syndrome
Joubert syndrome
Meckel-Gruber syndrome
Joubert syndrome 7
Meckel syndrome, type 5
COACH syndrome 3		 Criteria Provided
Multiple Submitters
No Conflicts
 CA130771 rs_121918203

7 SubmittersRCV000033207RCV000779628RCV000790748RCV000762961RCV001059320RCV001831501RCV004017218RCV005007803
NM_015272.5(RPGRIP1L):c.2050C>T (p.Gln684Ter) SNV
Germline		 Chr16:53652637 Pathogenic/Likely pathogenic Joubert syndrome 7
COACH syndrome 1
Meckel syndrome, type 5
Joubert syndrome 7
Joubert syndrome
Meckel-Gruber syndrome
Joubert syndrome
Abnormality of prenatal development or birth
Condition: not provided
COACH syndrome 3
Meckel syndrome, type 5
Joubert syndrome 7		 Criteria Provided
Multiple Submitters
No Conflicts
 CA251696 rs_121918204

10 SubmittersRCV000001131RCV000762962RCV000824619RCV001271277RCV001813927RCV001781157RCV005007804
NM_015272.5(RPGRIP1L):c.2413C>T (p.Arg805Ter) SNV
Germline		 Chr16:53645895 Pathogenic/Likely pathogenic COACH syndrome 3
Joubert syndrome 7
Condition: not provided
Joubert syndrome
Meckel-Gruber syndrome
Joubert syndrome
Joubert syndrome 7
Meckel syndrome, type 5
COACH syndrome 3		 Criteria Provided
Multiple Submitters
No Conflicts
 CA210648 rs_145665129

7 SubmittersRCV000001134RCV000201645RCV000733537RCV001382825RCV001831502RCV002490288
NM_015272.5(RPGRIP1L):c.1975T>C (p.Ser659Pro) SNV
Germline		 Chr16:53652712 Pathogenic COACH syndrome 3
Joubert syndrome 7		 Criteria Provided
Single Submitter
 CA210651 rs_267607020

2 SubmittersRCV000001135RCV000201757
NM_015272.5(RPGRIP1L):c.1829A>C (p.His610Pro) SNV
Germline		 Chr16:53652858 Conflicting classifications of pathogenicity Meckel syndrome, type 5
Meckel-Gruber syndrome
Joubert syndrome
Joubert syndrome		 Criteria Provided
Conflicting Classifications
 CA144362 rs_386833997

3 SubmittersRCV000049974RCV002514257RCV006638801
NM_015272.5(RPGRIP1L):c.2230C>T (p.Arg744Ter) SNV
Germline		 Chr16:53649038 Pathogenic/Likely pathogenic Meckel-Gruber syndrome
Joubert syndrome
Joubert syndrome
Joubert syndrome 7
Meckel syndrome, type 5
COACH syndrome 3		 Criteria Provided
Multiple Submitters
No Conflicts
 CA281341870 rs_267604575

4 SubmittersRCV001220267RCV004017384RCV005016358
NM_015272.5(RPGRIP1L):c.2153-4G>C SNV
Germline		 Chr16:53649119 Conflicting classifications of pathogenicity not specified
Meckel-Gruber syndrome
Joubert syndrome
Joubert syndrome 7
Nephronophthisis 8
Meckel syndrome, type 5
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA223182 rs_201380599

8 SubmittersRCV000081722RCV000636978RCV001118787RCV001120738RCV001120739RCV001573698
NM_015272.5(RPGRIP1L):c.2925A>G (p.Val975=) SNV
Germline		 Chr16:53641066 Conflicting classifications of pathogenicity not specified
Nephronophthisis 8
Joubert syndrome 7
Meckel-Gruber syndrome
Joubert syndrome
Meckel syndrome, type 5
Joubert syndrome
Condition: not provided
RPGRIP1L-related disorder		 Criteria Provided
Conflicting Classifications
 CA148755 rs_144313291

9 SubmittersRCV000081725RCV000280063RCV000323400RCV000547462RCV000372251RCV001271273RCV002262625RCV004528293
NM_015272.5(RPGRIP1L):c.2240G>A (p.Arg747Gln) SNV
Germline		 Chr16:53649028 Conflicting classifications of pathogenicity Nephronophthisis 8
Meckel syndrome, type 5
Joubert syndrome 7
Condition: not provided
Meckel-Gruber syndrome
Joubert syndrome
Joubert syndrome
RPGRIP1L-related disorder		 Criteria Provided
Conflicting Classifications
 CA233780 rs_142349647

7 SubmittersRCV000284497RCV000327884RCV000384916RCV000723738RCV001085401RCV001831948RCV004528883
NM_015272.5(RPGRIP1L):c.3372C>T (p.Ser1124=) SNV
Germline		 Chr16:53622279 Conflicting classifications of pathogenicity not specified
Meckel-Gruber syndrome
Joubert syndrome
Meckel syndrome, type 5
Joubert syndrome 7
Nephronophthisis 8
Condition: not provided
Kidney disorder		 Criteria Provided
Conflicting Classifications
 CA234809 rs_146902870

9 SubmittersRCV000252274RCV000475862RCV001116967RCV001116966RCV001116965RCV001704116RCV002294053
NM_015272.5(RPGRIP1L):c.230+1G>A SNV
Germline		 Chr16:53696150 Likely pathogenic Joubert syndrome
Meckel-Gruber syndrome
Joubert syndrome
Meckel syndrome, type 5
COACH syndrome 3
Joubert syndrome 7		 Criteria Provided
Multiple Submitters
No Conflicts
 CA334279 rs_786204135

3 SubmittersRCV000168110RCV001378306RCV001536099
NM_015272.5(RPGRIP1L):c.1156A>G (p.Lys386Glu) SNV
Germline		 Chr16:53664957 Conflicting classifications of pathogenicity Nephronophthisis 8
Meckel syndrome, type 5
Joubert syndrome 7
Joubert syndrome
Meckel-Gruber syndrome
COACH syndrome 1
Joubert syndrome 7
Meckel syndrome, type 5
Condition: not provided
Joubert syndrome
Inborn genetic diseases
RPGRIP1L-related disorder
Optic atrophy		 Criteria Provided
Conflicting Classifications
 CA239324 rs_137982921

14 SubmittersRCV000307599RCV000339807RCV000401583RCV000697464RCV000765297RCV000724780RCV001271337RCV002516602RCV004539604RCV004816258
NM_015272.5(RPGRIP1L):c.1340T>C (p.Leu447Ser) SNV
Germline		 Chr16:53658782 Conflicting classifications of pathogenicity not specified
Condition: not provided
Meckel-Gruber syndrome
Joubert syndrome
Meckel syndrome, type 5
Joubert syndrome		 Criteria Provided
Conflicting Classifications
 CA200839 rs_138155747

13 SubmittersRCV000174130RCV000223981RCV001082949RCV001120841RCV001271335
NM_015272.5(RPGRIP1L):c.1812A>G (p.Glu604=) SNV
Germline		 Chr16:53652875 Conflicting classifications of pathogenicity Condition: not provided
Joubert syndrome
Meckel-Gruber syndrome
Joubert syndrome
RPGRIP1L-related disorder		 Criteria Provided
Conflicting Classifications
 CA240561 rs_779429646

5 SubmittersRCV000174930RCV001088867RCV001271330RCV004732739
NM_015272.5(RPGRIP1L):c.2439A>G (p.Pro813=) SNV
Germline		 Chr16:53645869 Conflicting classifications of pathogenicity Condition: not provided
Meckel-Gruber syndrome
Joubert syndrome		 Criteria Provided
Conflicting Classifications
 CA240914 rs_794727193

2 SubmittersRCV000175208RCV001852144
NM_015272.5(RPGRIP1L):c.2643T>A (p.Asn881Lys) SNV
Germline		 Chr16:53645665 Conflicting classifications of pathogenicity not specified
Condition: not provided
Joubert syndrome
Meckel-Gruber syndrome
Meckel syndrome, type 5
Joubert syndrome 7
Nephronophthisis 8
RPGRIP1L-related disorder		 Criteria Provided
Conflicting Classifications
 CA201346 rs_139503476

7 SubmittersRCV000175209RCV000514096RCV001082641RCV001120643RCV001120644RCV001120642RCV004537378
NM_015272.5(RPGRIP1L):c.482G>A (p.Arg161His) SNV
Germline		 Chr16:53692113 Conflicting classifications of pathogenicity Condition: not provided
Meckel-Gruber syndrome
Joubert syndrome
Joubert syndrome
RPGRIP1L-related disorder
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA245348 rs_74957591

6 SubmittersRCV000178300RCV001080714RCV001271342RCV004537460RCV005268563
NM_015272.5(RPGRIP1L):c.2807T>G (p.Ile936Ser) SNV
Germline		 Chr16:53641352 Conflicting classifications of pathogenicity not specified
Joubert syndrome
Meckel-Gruber syndrome
Meckel syndrome, type 5
Nephronophthisis 8
Joubert syndrome 7
Condition: not provided
Joubert syndrome
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA207998 rs_146197239

10 SubmittersRCV000194076RCV000861106RCV001117063RCV001117062RCV001117064RCV001698998RCV001833139RCV002517128
NM_015272.5(RPGRIP1L):c.532A>G (p.Ile178Val) SNV
Germline		 Chr16:53687963 Conflicting classifications of pathogenicity not specified
Meckel-Gruber syndrome
Joubert syndrome
Nephronophthisis 8
Joubert syndrome 7
Meckel syndrome, type 5
Joubert syndrome
Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA206389 rs_140067659

9 SubmittersRCV000193122RCV000861107RCV001120943RCV001120942RCV001120944RCV001271340RCV001699228RCV004020339
NM_015272.5(RPGRIP1L):c.3701+1G>T SNV
Unknown		 Chr16:53610966 Pathogenic Joubert syndrome 7 Criteria Provided
Single Submitter
 CA279549 rs_863225219

1 SubmittersRCV000201765
NM_015272.5(RPGRIP1L):c.3529C>T (p.Arg1177Ter) SNV
Germline		 Chr16:53619112 Pathogenic Joubert syndrome 7
Meckel-Gruber syndrome
Joubert syndrome
Meckel syndrome, type 5
COACH syndrome 3
Joubert syndrome 7
Condition: not provided
Inborn genetic diseases
RPGRIP1L-related disorder
Joubert syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA277753 rs_778533826

7 SubmittersRCV000201661RCV001853237RCV002492927RCV002509297RCV002517313RCV004732786RCV006640460
NM_015272.5(RPGRIP1L):c.2305-1G>A SNV
Germline		 Chr16:53646004 Pathogenic Joubert syndrome 7
Joubert syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA279339 rs_863225215

3 SubmittersRCV000201526RCV006640459
NM_015272.5(RPGRIP1L):c.1243+1G>A SNV
Germline		 Chr16:53664869 Pathogenic/Likely pathogenic Joubert syndrome 7
Meckel-Gruber syndrome
Joubert syndrome
Joubert syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA279377 rs_863225218

3 SubmittersRCV000201573RCV001853236RCV005606653
NM_015272.5(RPGRIP1L):c.1736A>G (p.Tyr579Cys) SNV
Germline		 Chr16:53652951 Conflicting classifications of pathogenicity Condition: not provided
Nephronophthisis 8
Joubert syndrome 7
Meckel syndrome, type 5
Joubert syndrome
Meckel-Gruber syndrome
Joubert syndrome
Meckel syndrome, type 5
COACH syndrome 3
Joubert syndrome 7
Inborn genetic diseases
RPGRIP1L-related disorder		 Criteria Provided
Conflicting Classifications
 CA8057711 rs_148230131

8 SubmittersRCV000224936RCV000272739RCV000321854RCV000364967RCV001280344RCV001854774RCV002500747RCV002519757RCV004529383
NM_015272.5(RPGRIP1L):c.1165A>G (p.Ile389Val) SNV
Germline		 Chr16:53664948 Conflicting classifications of pathogenicity Condition: not provided
not specified
Nephronophthisis 8
Meckel-Gruber syndrome
Joubert syndrome
Meckel syndrome, type 5
Joubert syndrome 7
Joubert syndrome
RPGRIP1L-related disorder		 Criteria Provided
Conflicting Classifications
 CA8057886 rs_79708859

8 SubmittersRCV000224232RCV000253760RCV001120843RCV001079549RCV001120842RCV001120844RCV001833234RCV004529384
NM_015272.5(RPGRIP1L):c.3562G>A (p.Val1188Met) SNV
Germline		 Chr16:53619079 Conflicting classifications of pathogenicity Meckel-Gruber syndrome
Joubert syndrome
Joubert syndrome 7
Nephronophthisis 8
Meckel syndrome, type 5
Joubert syndrome
RPGRIP1L-related disorder
Inborn genetic diseases
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA8057257 rs_142317242

6 SubmittersRCV000232122RCV000271829RCV000302183RCV000359252RCV001271323RCV004532945RCV004955360RCV006277761
NM_015272.5(RPGRIP1L):c.3624C>T (p.Tyr1208=) SNV
Germline		 Chr16:53611044 Conflicting classifications of pathogenicity not specified
Joubert syndrome 7
Nephronophthisis 8
Meckel syndrome, type 5
Joubert syndrome
Meckel-Gruber syndrome
Joubert syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA8057230 rs_138724933

9 SubmittersRCV000246270RCV000296818RCV000399116RCV000349270RCV000861085RCV001271321RCV001675738
NM_015272.5(RPGRIP1L):c.3451A>C (p.Ile1151Leu) SNV
Germline		 Chr16:53619190 Conflicting classifications of pathogenicity not specified
Nephronophthisis 8
Joubert syndrome 7
Meckel syndrome, type 5
Meckel-Gruber syndrome
Joubert syndrome		 Criteria Provided
Conflicting Classifications
 CA8057277 rs_886038619

3 SubmittersRCV000249264RCV001115542RCV001115540RCV001115541RCV001317646
NM_015272.5(RPGRIP1L):c.3312C>T (p.Pro1104=) SNV
Germline		 Chr16:53622339 Conflicting classifications of pathogenicity not specified
Nephronophthisis 8
Joubert syndrome 7
Meckel syndrome, type 5
Condition: not provided
Joubert syndrome
Meckel-Gruber syndrome		 Criteria Provided
Conflicting Classifications
 CA8057298 rs_568801926

7 SubmittersRCV000247114RCV000281675RCV000374184RCV000349836RCV001729495RCV002058259
NM_015272.5(RPGRIP1L):c.2658G>A (p.Ser886=) SNV
Germline		 Chr16:53645650 Conflicting classifications of pathogenicity Meckel syndrome, type 5
Nephronophthisis 8
Joubert syndrome 7
Joubert syndrome
Meckel-Gruber syndrome
Joubert syndrome
RPGRIP1L-related disorder		 Criteria Provided
Conflicting Classifications
 CA8057506 rs_775153934

4 SubmittersRCV000291093RCV000343656RCV000397052RCV001279151RCV001436236RCV004529441
NM_015272.5(RPGRIP1L):c.1072T>C (p.Leu358=) SNV
Germline		 Chr16:53671541 Conflicting classifications of pathogenicity not specified
Meckel-Gruber syndrome
Joubert syndrome
Joubert syndrome 7
Nephronophthisis 8
Meckel syndrome, type 5
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA8057932 rs_147295026

6 SubmittersRCV000249002RCV000636972RCV001115910RCV001115908RCV001115909RCV001701904
NM_015272.5(RPGRIP1L):c.1489G>T (p.Glu497Ter) SNV
Germline		 Chr16:53657545 Pathogenic/Likely pathogenic Condition: not provided
Meckel-Gruber syndrome
Joubert syndrome
RPGRIP1L-related disorder
Meckel syndrome, type 5
COACH syndrome 3
Joubert syndrome 7
Joubert syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA8057784 rs_756821449

5 SubmittersRCV000365145RCV000797386RCV004535245RCV005008228RCV006640526
NM_015272.5(RPGRIP1L):c.2673G>A (p.Arg891=) SNV
Germline		 Chr16:53645635 Conflicting classifications of pathogenicity not specified
Joubert syndrome
Meckel-Gruber syndrome
Meckel syndrome, type 5
Joubert syndrome 7
Nephronophthisis 8
Condition: not provided
RPGRIP1L-related disorder		 Criteria Provided
Conflicting Classifications
 CA8057502 rs_61742381

9 SubmittersRCV000270094RCV000861403RCV001118694RCV001118693RCV001118695RCV001699420RCV004535264
NM_015272.5(RPGRIP1L):c.3616+7A>G SNV
Germline		 Chr16:53619018 Conflicting classifications of pathogenicity not specified
Condition: not provided
Meckel-Gruber syndrome
Joubert syndrome
Nephronophthisis 8
Meckel syndrome, type 5
Joubert syndrome 7
Joubert syndrome
RPGRIP1L-related disorder		 Criteria Provided
Conflicting Classifications
 CA8057251 rs_373003699

6 SubmittersRCV000299256RCV000725340RCV001088317RCV001120151RCV001120152RCV001120153RCV001271322RCV004543032
NM_015272.5(RPGRIP1L):c.962G>A (p.Arg321His) SNV
Germline		 Chr16:53672937 Conflicting classifications of pathogenicity Condition: not provided
Nephronophthisis 8
Meckel syndrome, type 5
Joubert syndrome 7
Joubert syndrome
Meckel-Gruber syndrome
Joubert syndrome
Meckel syndrome, type 5
Joubert syndrome 7
COACH syndrome 3
not specified
RPGRIP1L-related disorder		 Criteria Provided
Conflicting Classifications
 CA8057968 rs_183419371

9 SubmittersRCV000375576RCV001117358RCV001117359RCV001117360RCV001241000RCV001833330RCV002487213RCV004017583RCV004535307
NM_015272.5(RPGRIP1L):c.910G>A (p.Asp304Asn) SNV
Germline		 Chr16:53672989 Conflicting classifications of pathogenicity Condition: not provided
Meckel-Gruber syndrome
Joubert syndrome
Nephronophthisis 8
Joubert syndrome 7
Meckel syndrome, type 5
Joubert syndrome
Meckel syndrome, type 5
COACH syndrome 3
Joubert syndrome 7
RPGRIP1L-related disorder
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA8057978 rs_530772984

8 SubmittersRCV000270824RCV000800938RCV001117361RCV001117362RCV001117363RCV001833337RCV002480021RCV004535336RCV005470404
NM_015272.5(RPGRIP1L):c.1682G>A (p.Arg561His) SNV
Germline		 Chr16:53656489 Conflicting classifications of pathogenicity Nephronophthisis 8
Joubert syndrome 7
Meckel syndrome, type 5
Condition: not provided
Meckel-Gruber syndrome
Joubert syndrome
Joubert syndrome
Meckel syndrome, type 5
COACH syndrome 3
Joubert syndrome 7
RPGRIP1L-related disorder
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA8057737 rs_147366111

8 SubmittersRCV000276180RCV000325211RCV000382161RCV000725929RCV001243651RCV001271332RCV002487244RCV004529473RCV004021214
NM_015272.5(RPGRIP1L):c.640G>A (p.Val214Ile) SNV
Germline		 Chr16:53686569 Conflicting classifications of pathogenicity Condition: not provided
Joubert syndrome
Meckel-Gruber syndrome
Joubert syndrome
RPGRIP1L-related disorder		 Criteria Provided
Conflicting Classifications
 CA8058054 rs_139067427

6 SubmittersRCV000406622RCV001079200RCV001835759RCV004535378
NM_015272.5(RPGRIP1L):c.1810G>A (p.Glu604Lys) SNV
Germline		 Chr16:53652877 Conflicting classifications of pathogenicity Joubert syndrome 7
Meckel syndrome, type 5
Nephronophthisis 8
Meckel syndrome, type 5
COACH syndrome 1
Joubert syndrome 7
Condition: not provided
Meckel-Gruber syndrome
Joubert syndrome
Joubert syndrome
Inborn genetic diseases
RPGRIP1L-related disorder		 Criteria Provided
Conflicting Classifications
 CA8057696 rs_143863631

9 SubmittersRCV000264423RCV000303891RCV000361003RCV000765294RCV000726350RCV001054615RCV001833391RCV002522007RCV004543128
NM_015272.5(RPGRIP1L):c.3882A>G (p.Val1294=) SNV
Germline		 Chr16:53602142 Conflicting classifications of pathogenicity Joubert syndrome 7
Nephronophthisis 8
Meckel syndrome, type 5
Meckel-Gruber syndrome
Joubert syndrome
Condition: not provided
Retinal dystrophy
RPGRIP1L-related disorder		 Criteria Provided
Conflicting Classifications
 CA8057127 rs_759935029

5 SubmittersRCV000260137RCV000324659RCV000379320RCV001413863RCV000996270RCV004816558RCV004544574
NM_015272.5(RPGRIP1L):c.2565C>T (p.Tyr855=) SNV
Germline		 Chr16:53645743 Conflicting classifications of pathogenicity Joubert syndrome 7
Meckel syndrome, type 5
Nephronophthisis 8
Meckel-Gruber syndrome
Joubert syndrome		 Criteria Provided
Conflicting Classifications
 CA10637956 rs_886052096

2 SubmittersRCV000313265RCV000371312RCV000401665RCV002056498
NM_015272.5(RPGRIP1L):c.3839T>C (p.Phe1280Ser) SNV
Germline		 Chr16:53602185 Conflicting classifications of pathogenicity Nephronophthisis 8
Joubert syndrome 7
Meckel syndrome, type 5
Meckel-Gruber syndrome
Joubert syndrome
Joubert syndrome
Inborn genetic diseases
Meckel syndrome, type 5
Joubert syndrome 7
COACH syndrome 3		 Criteria Provided
Conflicting Classifications
 CA8057138 rs_377402117

5 SubmittersRCV000284914RCV000321256RCV000385189RCV000820913RCV001276306RCV003278765RCV002504091
NM_015272.5(RPGRIP1L):c.3179C>T (p.Ser1060Phe) SNV
Germline		 Chr16:53637736 Conflicting classifications of pathogenicity Joubert syndrome 7
Meckel syndrome, type 5
Nephronophthisis 8
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA8057349 rs_371616177

2 SubmittersRCV000304399RCV000334324RCV000400874RCV004021662
NM_015272.5(RPGRIP1L):c.444T>C (p.Thr148=) SNV
Germline		 Chr16:53692151 Conflicting classifications of pathogenicity Joubert syndrome 7
Nephronophthisis 8
Meckel syndrome, type 5
Meckel-Gruber syndrome
Joubert syndrome
Joubert syndrome
Condition: not provided
RPGRIP1L-related disorder		 Criteria Provided
Conflicting Classifications
 CA8058122 rs_202149647

5 SubmittersRCV000260324RCV000320204RCV000374585RCV000867235RCV001273899RCV003992277RCV004537803
NM_015272.5(RPGRIP1L):c.303G>A (p.Arg101=) SNV
Germline		 Chr16:53692292 Conflicting classifications of pathogenicity Meckel syndrome, type 5
Nephronophthisis 8
Joubert syndrome 7
Meckel-Gruber syndrome
Joubert syndrome
Joubert syndrome		 Criteria Provided
Conflicting Classifications
 CA8058137 rs_182207372

3 SubmittersRCV000285017RCV000339982RCV000380550RCV000867344RCV001273900
NM_015272.5(RPGRIP1L):c.*1584G>T SNV
Germline		 Chr16:53600492 Conflicting classifications of pathogenicity Meckel syndrome, type 5
Nephronophthisis 8
Joubert syndrome 7
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA10647702 rs_151226475

2 SubmittersRCV000260902RCV000316080RCV000379947RCV003422270
NM_015272.5(RPGRIP1L):c.1960G>A (p.Glu654Lys) SNV
Germline		 Chr16:53652727 Conflicting classifications of pathogenicity Meckel syndrome, type 5
Nephronophthisis 8
Joubert syndrome 7
Meckel-Gruber syndrome
Joubert syndrome
Joubert syndrome		 Criteria Provided
Conflicting Classifications
 CA8057665 rs_141979202

3 SubmittersRCV000300536RCV000352999RCV000402360RCV000467631RCV001271328
NM_015272.5(RPGRIP1L):c.*1627G>A SNV
Germline		 Chr16:53600449 Conflicting classifications of pathogenicity Nephronophthisis 8
Joubert syndrome 7
Meckel syndrome, type 5
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA10648543 rs_188203905

2 SubmittersRCV000273866RCV000300937RCV000355217RCV003422269
NM_015272.5(RPGRIP1L):c.2682A>G (p.Ser894=) SNV
Germline		 Chr16:53645626 Conflicting classifications of pathogenicity Nephronophthisis 8
Joubert syndrome 7
Meckel syndrome, type 5
Condition: not provided
Meckel-Gruber syndrome
Joubert syndrome
Joubert syndrome
COACH syndrome 3
Joubert syndrome 7
Meckel syndrome, type 5
Lung cancer
Familial cancer of breast		 Criteria Provided
Conflicting Classifications
 CA8057500 rs_141608712

9 SubmittersRCV000283664RCV000341038RCV000380415RCV000996271RCV001243917RCV001271326RCV005010283RCV005894494RCV005894493
NM_015272.5(RPGRIP1L):c.1085A>G (p.Tyr362Cys) SNV
Germline		 Chr16:53671528 Conflicting classifications of pathogenicity Meckel syndrome, type 5
Joubert syndrome 7
Nephronophthisis 8
Meckel-Gruber syndrome
Joubert syndrome
Joubert syndrome
Meckel syndrome, type 5
Joubert syndrome 7
COACH syndrome 3
RPGRIP1L-related disorder
Inborn genetic diseases
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA8057930 rs_144023021

7 SubmittersRCV000272277RCV000308698RCV000362256RCV001239253RCV001828320RCV002487410RCV004537802RCV004021665RCV005241353
NM_015272.5(RPGRIP1L):c.251G>A (p.Arg84Gln) SNV
Germline		 Chr16:53692344 Conflicting classifications of pathogenicity Joubert syndrome 7
Nephronophthisis 8
Meckel syndrome, type 5
Meckel-Gruber syndrome
Joubert syndrome
Meckel syndrome, type 5
COACH syndrome 1
Joubert syndrome 7
Condition: not provided
Joubert syndrome
RPGRIP1L-related disorder		 Criteria Provided
Conflicting Classifications
 CA8058159 rs_151212590

7 SubmittersRCV000310412RCV000346684RCV000398312RCV000464407RCV000765298RCV001562186RCV001828321RCV004537804
NM_015272.5(RPGRIP1L):c.171G>T (p.Leu57Phe) SNV
Germline		 Chr16:53696210 Conflicting classifications of pathogenicity Joubert syndrome 7
Meckel syndrome, type 5
Nephronophthisis 8
Meckel-Gruber syndrome
Joubert syndrome
Condition: not provided
Retinal dystrophy
COACH syndrome 3
Joubert syndrome 7
Meckel syndrome, type 5
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA8058197 rs_146925098

10 SubmittersRCV000262935RCV000298218RCV000353091RCV001081628RCV000489212RCV004816559RCV005016706RCV006362268
NM_015272.5(RPGRIP1L):c.3187G>T (p.Glu1063Ter) SNV
Germline		 Chr16:53637728 Likely pathogenic Condition: not provided
Joubert syndrome
RPGRIP1L-related disorder		 Criteria Provided
Single Submitter
 CA16603302 rs_1057520162

3 SubmittersRCV000425777RCV001835792RCV004725212
NM_015272.5(RPGRIP1L):c.1700-1G>A SNV
Germline		 Chr16:53652988 Pathogenic/Likely pathogenic Condition: not provided
Meckel-Gruber syndrome
Joubert syndrome
Joubert syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA16607037 rs_1057520790

3 SubmittersRCV000434303RCV001378534RCV006640631
NM_015272.5(RPGRIP1L):c.3220+13T>C SNV
Germline		 Chr16:53637682 Conflicting classifications of pathogenicity not specified
Joubert syndrome 7
Nephronophthisis 8
Meckel syndrome, type 5
Meckel-Gruber syndrome
Joubert syndrome
RPGRIP1L-related disorder		 Criteria Provided
Conflicting Classifications
 CA8057344 rs_376659273

4 SubmittersRCV000438977RCV001120235RCV001120236RCV001120237RCV002522503RCV004533096
NM_015272.5(RPGRIP1L):c.3446T>A (p.Ile1149Asn) SNV
Germline		 Chr16:53619195 Conflicting classifications of pathogenicity Condition: not provided
Meckel-Gruber syndrome
Joubert syndrome
RPGRIP1L-related disorder
Meckel syndrome, type 5
COACH syndrome 3
Joubert syndrome 7		 Criteria Provided
Conflicting Classifications
 CA8057283 rs_766943204

4 SubmittersRCV000484881RCV001365284RCV004732897RCV005018809
NM_015272.5(RPGRIP1L):c.2200C>T (p.Arg734Ter) SNV
Germline		 Chr16:53649068 Pathogenic/Likely pathogenic Condition: not provided
Meckel-Gruber syndrome
Joubert syndrome
Inborn genetic diseases
Joubert syndrome and related disorders
Joubert syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA8057601 rs_751128300

5 SubmittersRCV000484741RCV000697158RCV002526604RCV002509406RCV006640663
NM_015272.5(RPGRIP1L):c.1660C>A (p.Leu554Ile) SNV
Germline		 Chr16:53656511 Conflicting classifications of pathogenicity Meckel syndrome, type 5
COACH syndrome 1
Joubert syndrome 7
Meckel-Gruber syndrome
Joubert syndrome
Condition: not provided
RPGRIP1L-related disorder		 Criteria Provided
Conflicting Classifications
 CA8057740 rs_79524027

5 SubmittersRCV000765296RCV000862031RCV001696865RCV004535531
NM_015272.5(RPGRIP1L):c.628A>G (p.Asn210Asp) SNV
Germline		 Chr16:53687867 Conflicting classifications of pathogenicity Condition: not provided
Meckel-Gruber syndrome
Joubert syndrome
Nephronophthisis 8
Joubert syndrome 7
Meckel syndrome, type 5
Joubert syndrome
not specified
Meckel syndrome, type 5
COACH syndrome 3
Joubert syndrome 7
Retinal dystrophy
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA8058076 rs_146584570

12 SubmittersRCV000489985RCV001047354RCV001118973RCV001118974RCV001118975RCV001273839RCV003155214RCV002481554RCV004816716RCV006362376
NM_015272.5(RPGRIP1L):c.3781G>A (p.Asp1261Asn) SNV
Germline		 Chr16:53605535 Conflicting classifications of pathogenicity not specified
Meckel-Gruber syndrome
Joubert syndrome
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA395921259 rs_1445612197

3 SubmittersRCV000499574RCV001865622RCV002524284
NM_015272.5(RPGRIP1L):c.118C>T (p.Gln40Ter) SNV
Germline		 Chr16:53696263 Pathogenic Joubert syndrome 7 No Assertion Criteria Provided
 CA395926047 rs_1555616593

1 SubmittersRCV000505609
NM_015272.5(RPGRIP1L):c.1700-16G>T SNV
Germline		 Chr16:53653003 Conflicting classifications of pathogenicity Condition: not provided
Meckel-Gruber syndrome
Joubert syndrome		 Criteria Provided
Conflicting Classifications
 CA658653834 rs_1555604481

2 SubmittersRCV000514508RCV003766899
NM_015272.5(RPGRIP1L):c.2299C>T (p.Gln767Ter) SNV
Germline		 Chr16:53648969 Pathogenic/Likely pathogenic Condition: not provided
Meckel-Gruber syndrome
Joubert syndrome
RPGRIP1L-related disorder
Joubert syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA395915296 rs_1326042797

4 SubmittersRCV000578780RCV003767253RCV004722949RCV006640761
NM_015272.5(RPGRIP1L):c.2358T>C (p.Asp786=) SNV
Germline		 Chr16:53645950 Conflicting classifications of pathogenicity Condition: not provided
Meckel-Gruber syndrome
Joubert syndrome		 Criteria Provided
Conflicting Classifications
 CA495784490 rs_1468139751

2 SubmittersRCV000598073RCV002065165
NM_015272.5(RPGRIP1L):c.502G>A (p.Ala168Thr) SNV
Germline		 Chr16:53692093 Conflicting classifications of pathogenicity Condition: not provided
Meckel-Gruber syndrome
Joubert syndrome
Joubert syndrome
Meckel syndrome, type 5
COACH syndrome 3
Joubert syndrome 7
RPGRIP1L-related disorder		 Criteria Provided
Conflicting Classifications
 CA8058113 rs_780770984

6 SubmittersRCV000598220RCV000817532RCV001271341RCV002476313RCV004530699
NM_015272.5(RPGRIP1L):c.1701C>A (p.Ala567=) SNV
Germline		 Chr16:53652986 Conflicting classifications of pathogenicity Condition: not provided
Joubert syndrome
Joubert syndrome
Meckel-Gruber syndrome		 Criteria Provided
Conflicting Classifications
 CA495784761 rs_1555604462

5 SubmittersRCV000594829RCV001280345RCV001405001
NM_015272.5(RPGRIP1L):c.341A>G (p.Gln114Arg) SNV
Germline		 Chr16:53692254 Conflicting classifications of pathogenicity Condition: not provided
Meckel-Gruber syndrome
Joubert syndrome
Meckel syndrome, type 5
Joubert syndrome
Meckel syndrome, type 5
COACH syndrome 3
Joubert syndrome 7
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA8058130 rs_201413825

8 SubmittersRCV000596655RCV001248488RCV001330328RCV001829675RCV002476328RCV003278935
NM_015272.5(RPGRIP1L):c.1704A>G (p.Gln568=) SNV
Germline		 Chr16:53652983 Conflicting classifications of pathogenicity Meckel-Gruber syndrome
Joubert syndrome
Meckel syndrome, type 5
Nephronophthisis 8
Joubert syndrome 7
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA8057715 rs_141201084

4 SubmittersRCV000636964RCV001115808RCV001115809RCV001117240RCV001535066
NM_015272.5(RPGRIP1L):c.1709A>G (p.Lys570Arg) SNV
Germline		 Chr16:53652978 Conflicting classifications of pathogenicity Meckel-Gruber syndrome
Joubert syndrome
Joubert syndrome
Condition: not provided
Meckel syndrome, type 5
COACH syndrome 3
Joubert syndrome 7		 Criteria Provided
Conflicting Classifications
 CA8057714 rs_111459222

4 SubmittersRCV000636947RCV001271281RCV001549364RCV002483809
NM_015272.5(RPGRIP1L):c.2173A>G (p.Asn725Asp) SNV
Germline		 Chr16:53649095 Conflicting classifications of pathogenicity Meckel-Gruber syndrome
Joubert syndrome
Joubert syndrome
Inborn genetic diseases
RPGRIP1L-related disorder		 Criteria Provided
Conflicting Classifications
 CA8057604 rs_373201651

4 SubmittersRCV000636953RCV001835889RCV002529857RCV004533330
NM_015272.5(RPGRIP1L):c.583A>T (p.Lys195Ter) SNV
Germline		 Chr16:53687912 Pathogenic/Likely pathogenic Condition: not provided
Meckel-Gruber syndrome
Joubert syndrome
Joubert syndrome
Joubert syndrome 7
Meckel syndrome, type 5
COACH syndrome 3
RPGRIP1L-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA395924473 rs_1277577195

6 SubmittersRCV000722572RCV000812456RCV001273840RCV002507274RCV004733019
NM_015272.5(RPGRIP1L):c.2125C>T (p.Arg709Ter) SNV
Germline		 Chr16:53652562 Pathogenic/Likely pathogenic Condition: not provided
Meckel-Gruber syndrome
Joubert syndrome
Joubert syndrome 7
Meckel syndrome, type 5
COACH syndrome 3
RPGRIP1L-related disorder
Joubert syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA281343836 rs_1037406858

5 SubmittersRCV000732387RCV001855682RCV002485914RCV004535855RCV006642556
NM_015272.5(RPGRIP1L):c.2451C>G (p.Tyr817Ter) SNV
Germline		 Chr16:53645857 Pathogenic/Likely pathogenic Condition: not provided
Meckel-Gruber syndrome
Joubert syndrome
Joubert syndrome 7
Meckel syndrome, type 5
COACH syndrome 3		 Criteria Provided
Multiple Submitters
No Conflicts
 CA281339352 rs_145807002

3 SubmittersRCV000760815RCV001869036RCV002485971
NM_015272.5(RPGRIP1L):c.3594G>A (p.Trp1198Ter) SNV
Germline		 Chr16:53619047 Likely pathogenic Joubert syndrome 7 Criteria Provided
Single Submitter
 CA395923378 rs_1567800920

2 SubmittersRCV000785895
NM_015272.5(RPGRIP1L):c.1945C>T (p.Arg649Ter) SNV
Germline		 Chr16:53652742 Pathogenic Joubert syndrome
Meckel-Gruber syndrome
Joubert syndrome
Uterine corpus endometrial carcinoma
Joubert syndrome 7
Joubert syndrome 7
COACH syndrome 3
Meckel syndrome, type 5		 Criteria Provided
Multiple Submitters
No Conflicts
 CA8057670 rs_751477523

5 SubmittersRCV000807403RCV001825602RCV005902021RCV005231360RCV006685337
NM_015272.5(RPGRIP1L):c.1873G>T (p.Gly625Ter) SNV
Germline		 Chr16:53652814 Pathogenic/Likely pathogenic Meckel-Gruber syndrome
Joubert syndrome
Joubert syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA395917140 rs_1156977888

2 SubmittersRCV000817193RCV006642664
NM_015272.5(RPGRIP1L):c.946C>T (p.Gln316Ter) SNV
Germline		 Chr16:53672953 Pathogenic Meckel-Gruber syndrome
Joubert syndrome		 Criteria Provided
Single Submitter
 CA395922914 rs_1598375579

1 SubmittersRCV000793552
NM_015272.5(RPGRIP1L):c.196C>T (p.Gln66Ter) SNV
Germline		 Chr16:53696185 Pathogenic/Likely pathogenic Joubert syndrome
Meckel-Gruber syndrome
Joubert syndrome and related disorders
Condition: not provided
RPGRIP1L-related disorder
Joubert syndrome 7
Meckel syndrome, type 5
COACH syndrome 3
Joubert syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA395925850 rs_751444506

6 SubmittersRCV000793385RCV002282368RCV002263980RCV004733043RCV005021195RCV006642619
NM_015272.5(RPGRIP1L):c.3617-2A>G SNV
Germline		 Chr16:53611053 Likely pathogenic Meckel-Gruber syndrome
Joubert syndrome
RPGRIP1L-related disorder		 Criteria Provided
Single Submitter
 CA281352825 rs_781683750

2 SubmittersRCV000799949RCV004723197
NM_015272.5(RPGRIP1L):c.883-2A>G SNV
Germline		 Chr16:53673018 Likely pathogenic Meckel-Gruber syndrome
Joubert syndrome		 Criteria Provided
Single Submitter
 CA395923067 rs_1598375731

1 SubmittersRCV000819951
NM_015272.5(RPGRIP1L):c.3928A>G (p.Arg1310Gly) SNV
Germline		 Chr16:53602096 Conflicting classifications of pathogenicity Joubert syndrome
Meckel-Gruber syndrome
Joubert syndrome
RPGRIP1L-related disorder		 Criteria Provided
Conflicting Classifications
 CA8057121 rs_547718820

3 SubmittersRCV000867423RCV001276305RCV004538254
NM_015272.5(RPGRIP1L):c.3010C>T (p.His1004Tyr) SNV
Germline		 Chr16:53638360 Conflicting classifications of pathogenicity Joubert syndrome
Meckel-Gruber syndrome
Meckel syndrome, type 5
Joubert syndrome 7
Nephronophthisis 8
Joubert syndrome
RPGRIP1L-related disorder		 Criteria Provided
Conflicting Classifications
 CA8057385 rs_574430009

4 SubmittersRCV000868807RCV001115635RCV001115637RCV001115636RCV001271324RCV004726709
NM_015272.5(RPGRIP1L):c.195A>G (p.Lys65=) SNV
Germline		 Chr16:53696186 Conflicting classifications of pathogenicity Joubert syndrome
Meckel-Gruber syndrome
Joubert syndrome 7
Nephronophthisis 8
Meckel syndrome, type 5
not specified		 Criteria Provided
Conflicting Classifications
 CA8058193 rs_550006406

3 SubmittersRCV000867681RCV001119074RCV001119075RCV001119076RCV004702484
NM_015272.5(RPGRIP1L):c.2305-8T>G SNV
Germline		 Chr16:53646011 Conflicting classifications of pathogenicity Joubert syndrome
Meckel-Gruber syndrome
Joubert syndrome
Kidney disorder		 Criteria Provided
Conflicting Classifications
 CA281339553 rs_953486434

3 SubmittersRCV000867250RCV001279157RCV002294391
NM_015272.5(RPGRIP1L):c.3448C>A (p.Arg1150=) SNV
Germline		 Chr16:53619193 Conflicting classifications of pathogenicity Condition: not provided
Meckel-Gruber syndrome
Joubert syndrome
RPGRIP1L-related disorder
Retinal dystrophy		 Criteria Provided
Conflicting Classifications
 CA8057282 rs_750930363

4 SubmittersRCV000999529RCV003769375RCV004733106RCV004818129
NM_015272.5(RPGRIP1L):c.1261G>A (p.Val421Ile) SNV
Germline		 Chr16:53658861 Conflicting classifications of pathogenicity Condition: not provided
Meckel-Gruber syndrome
Joubert syndrome
Joubert syndrome
RPGRIP1L-related disorder
Inborn genetic diseases
Joubert syndrome 7
Meckel syndrome, type 5
COACH syndrome 3		 Criteria Provided
Conflicting Classifications
 CA8057860 rs_138383101

7 SubmittersRCV000996272RCV001246734RCV001832313RCV004536031RCV005268850RCV005012432
NM_015272.5(RPGRIP1L):c.2760C>A (p.Tyr920Ter) SNV
Germline		 Chr16:53641399 Pathogenic Meckel-Gruber syndrome
Joubert syndrome		 Criteria Provided
Single Submitter
 CA395927337 rs_1966212821

1 SubmittersRCV001035469
NM_015272.5(RPGRIP1L):c.2303C>A (p.Ser768Ter) SNV
Germline		 Chr16:53648965 Pathogenic/Likely pathogenic Meckel-Gruber syndrome
Joubert syndrome
Joubert syndrome and related disorders
COACH syndrome 3
Joubert syndrome 7
Meckel syndrome, type 5
Condition: not provided
Joubert syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA8057588 rs_542206983

5 SubmittersRCV001052996RCV003323789RCV005021379RCV005638545RCV006642800
NM_015272.5(RPGRIP1L):c.1052T>A (p.Leu351Ter) SNV
Germline		 Chr16:53671561 Pathogenic Meckel-Gruber syndrome
Joubert syndrome		 Criteria Provided
Single Submitter
 CA395922652 rs_1968731636

1 SubmittersRCV001042321
NM_015272.5(RPGRIP1L):c.3616+1G>A SNV
Germline		 Chr16:53619024 Likely pathogenic Meckel-Gruber syndrome
Joubert syndrome		 Criteria Provided
Single Submitter
 CA395923320 rs_1964549409

1 SubmittersRCV001037424
NM_015272.5(RPGRIP1L):c.1244-1G>T SNV
Germline		 Chr16:53658879 Likely pathogenic Meckel-Gruber syndrome
Joubert syndrome
COACH syndrome 3
Joubert syndrome 7
Meckel syndrome, type 5		 Criteria Provided
Multiple Submitters
No Conflicts
 CA395920644 rs_1306595038

2 SubmittersRCV001058076RCV002479353
NM_015272.5(RPGRIP1L):c.776+1G>A SNV
Germline		 Chr16:53686432 Pathogenic/Likely pathogenic Meckel-Gruber syndrome
Joubert syndrome
Condition: not provided
Joubert syndrome
COACH syndrome 3
Joubert syndrome 7
Meckel syndrome, type 5		 Criteria Provided
Multiple Submitters
No Conflicts
 CA8058032 rs_771226563

4 SubmittersRCV001070906RCV001784626RCV001828525RCV002505659
NM_015272.5(RPGRIP1L):c.*1033G>A SNV
Germline		 Chr16:53601043 Conflicting classifications of pathogenicity Joubert syndrome 7
Meckel syndrome, type 5
Nephronophthisis 8		 Criteria Provided
Conflicting Classifications
 CA281347342 rs_145688122

1 SubmittersRCV001118321RCV001118322RCV001118320
NM_015272.5(RPGRIP1L):c.*491C>G SNV
Germline		 Chr16:53601585 Conflicting classifications of pathogenicity Meckel syndrome, type 5
Joubert syndrome 7
Nephronophthisis 8
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA281347621 rs_35669682

2 SubmittersRCV001118426RCV001118428RCV001118427RCV003326543
NM_015272.5(RPGRIP1L):c.3331G>A (p.Ala1111Thr) SNV
Germline		 Chr16:53622320 Conflicting classifications of pathogenicity Meckel syndrome, type 5
Joubert syndrome 7
Nephronophthisis 8
Joubert syndrome
Meckel-Gruber syndrome
Joubert syndrome 7
Meckel syndrome, type 5
COACH syndrome 3
Condition: not provided
RPGRIP1L-related disorder
Retinal dystrophy		 Criteria Provided
Conflicting Classifications
 CA281358352 rs_973841786

6 SubmittersRCV001116968RCV001116969RCV001116970RCV001856535RCV002491365RCV003425936RCV004733161RCV004813782
NM_015272.5(RPGRIP1L):c.2259G>A (p.Leu753=) SNV
Germline		 Chr16:53649009 Conflicting classifications of pathogenicity Meckel syndrome, type 5
Joubert syndrome 7
Nephronophthisis 8
Meckel-Gruber syndrome
Joubert syndrome		 Criteria Provided
Conflicting Classifications
 CA8057593 rs_768672275

2 SubmittersRCV001117154RCV001117155RCV001117156RCV001433946
NM_015272.5(RPGRIP1L):c.530-15T>C SNV
Germline		 Chr16:53687980 Conflicting classifications of pathogenicity Meckel syndrome, type 5
Nephronophthisis 8
Joubert syndrome 7
Meckel-Gruber syndrome
Joubert syndrome
not specified
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA8058088 rs_368728064

4 SubmittersRCV001120945RCV001120946RCV001120947RCV001409417RCV001700699RCV001702084
NM_015272.5(RPGRIP1L):c.230+14G>A SNV
Germline		 Chr16:53696137 Conflicting classifications of pathogenicity Meckel syndrome, type 5
Joubert syndrome 7
Nephronophthisis 8
Meckel-Gruber syndrome
Joubert syndrome		 Criteria Provided
Conflicting Classifications
 CA1139664700 rs_1970739259

2 SubmittersRCV001119073RCV001117473RCV001119072RCV002069898
NM_015272.5(RPGRIP1L):c.2560C>T (p.Arg854Ter) SNV
Germline		 Chr16:53645748 Pathogenic/Likely pathogenic Joubert syndrome 7
Meckel-Gruber syndrome
Joubert syndrome
Inborn genetic diseases		 Criteria Provided
Multiple Submitters
No Conflicts
 CA281339134 rs_770291169

3 SubmittersRCV001199009RCV001863136RCV006721237
NM_015272.5(RPGRIP1L):c.1804C>T (p.Arg602Ter) SNV
Germline		 Chr16:53652883 Pathogenic/Likely pathogenic Joubert syndrome 7
Meckel-Gruber syndrome
Joubert syndrome
Joubert syndrome and related disorders
Joubert syndrome 7
COACH syndrome 3
Meckel syndrome, type 5
Joubert syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA8057699 rs_745413543

5 SubmittersRCV001199008RCV001241219RCV002509625RCV005012592RCV006636646
NM_015272.5(RPGRIP1L):c.751C>T (p.Arg251Ter) SNV
Germline		 Chr16:53686458 Pathogenic/Likely pathogenic Joubert syndrome 7
Meckel-Gruber syndrome
Joubert syndrome
Joubert syndrome and related disorders
RPGRIP1L-related disorder
Joubert syndrome 7
COACH syndrome 3
Meckel syndrome, type 5
Joubert syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA281371218 rs_993394322

6 SubmittersRCV001198756RCV001225531RCV002265959RCV004538435RCV005021492RCV006636645
NM_015272.5(RPGRIP1L):c.310C>T (p.Arg104Ter) SNV
Germline		 Chr16:53692285 Pathogenic/Likely pathogenic Meckel-Gruber syndrome
Joubert syndrome
Joubert syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA8058135 rs_547189939

2 SubmittersRCV001221261RCV006636685
NM_015272.5(RPGRIP1L):c.2180G>A (p.Gly727Asp) SNV
Germline		 Chr16:53649088 Likely pathogenic Meckel-Gruber syndrome
Joubert syndrome
Joubert syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA281341913 rs_546150528

2 SubmittersRCV001207419RCV006636657
NM_015272.5(RPGRIP1L):c.1649A>G (p.Gln550Arg) SNV
Germline		 Chr16:53656522 Pathogenic Joubert syndrome
Meckel-Gruber syndrome
Joubert syndrome and related disorders		 Criteria Provided
Multiple Submitters
No Conflicts
 CA8057744 rs_772900011

2 SubmittersRCV001213020RCV006688938
NM_015272.5(RPGRIP1L):c.3121A>T (p.Lys1041Ter) SNV
Germline		 Chr16:53637794 Pathogenic/Likely pathogenic Meckel-Gruber syndrome
Joubert syndrome
Joubert syndrome 7
COACH syndrome 3
Meckel syndrome, type 5
RPGRIP1L-related disorder
Joubert syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA395926336 rs_1456208953

4 SubmittersRCV001231979RCV002497792RCV004538486RCV006636713
NM_015272.5(RPGRIP1L):c.2104G>T (p.Glu702Ter) SNV
Germline		 Chr16:53652583 Pathogenic Meckel-Gruber syndrome
Joubert syndrome		 Criteria Provided
Single Submitter
 CA395916634 rs_199975230

1 SubmittersRCV001226253
NM_015272.5(RPGRIP1L):c.1799T>G (p.Leu600Ter) SNV
Germline		 Chr16:53652888 Pathogenic/Likely pathogenic Meckel-Gruber syndrome
Joubert syndrome
Joubert syndrome 7
COACH syndrome 3
Meckel syndrome, type 5		 Criteria Provided
Multiple Submitters
No Conflicts
 CA395917292 rs_1966902456

2 SubmittersRCV001231692RCV002504314
NM_015272.5(RPGRIP1L):c.745C>T (p.Gln249Ter) SNV
Germline		 Chr16:53686464 Pathogenic Meckel-Gruber syndrome
Joubert syndrome		 Criteria Provided
Single Submitter
 CA395923794 rs_1970021137

1 SubmittersRCV001225530
NM_015272.5(RPGRIP1L):c.74G>T (p.Gly25Val) SNV
Germline		 Chr16:53700650 Conflicting classifications of pathogenicity Meckel-Gruber syndrome
Joubert syndrome
Joubert syndrome
Inborn genetic diseases
Condition: not provided
RPGRIP1L-related disorder		 Criteria Provided
Conflicting Classifications
 CA8058230 rs_143515432

5 SubmittersRCV001240153RCV001277875RCV002567944RCV003442801RCV004733203
NM_015272.5(RPGRIP1L):c.2122G>A (p.Gly708Ser) SNV
Germline		 Chr16:53652565 Conflicting classifications of pathogenicity Joubert syndrome
Meckel-Gruber syndrome
Joubert syndrome
Joubert syndrome 7
COACH syndrome 3
Meckel syndrome, type 5
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA8057635 rs_565152814

4 SubmittersRCV001279159RCV002541701RCV005012711RCV005470708
NM_015272.5(RPGRIP1L):c.2239C>T (p.Arg747Ter) SNV
Germline		 Chr16:53649029 Pathogenic/Likely pathogenic Meckel-Gruber syndrome
Joubert syndrome
Joubert syndrome and related disorders
Meckel syndrome, type 5
Joubert syndrome 7
COACH syndrome 3
Joubert syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA8057595 rs_767686118

5 SubmittersRCV001975234RCV002469441RCV002479591RCV006639304RCV005631000
NM_015272.5(RPGRIP1L):c.3220+17A>C SNV
Germline		 Chr16:53637678 Conflicting classifications of pathogenicity COACH syndrome 1
Joubert syndrome
Meckel-Gruber syndrome		 Criteria Provided
Conflicting Classifications
 CA721639044 rs_1204073957

2 SubmittersRCV001334833RCV002070192
NM_015272.5(RPGRIP1L):c.3295-2A>G SNV
Germline		 Chr16:53622358 Conflicting classifications of pathogenicity Joubert syndrome
Meckel-Gruber syndrome
Condition: not provided
Joubert syndrome 7
Meckel syndrome, type 5
COACH syndrome 3		 Criteria Provided
Conflicting Classifications
 CA395924229 rs_1258182460

3 SubmittersRCV001378533RCV001751748RCV005005906
NM_015272.5(RPGRIP1L):c.632+1G>A SNV
Germline		 Chr16:53687862 Likely pathogenic Joubert syndrome
Meckel-Gruber syndrome
Joubert syndrome 7
Meckel syndrome, type 5
COACH syndrome 3
Joubert syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA395924361 rs_1376397728

3 SubmittersRCV001378777RCV005014517RCV006636853
NM_015272.5(RPGRIP1L):c.530-1G>C SNV
Germline		 Chr16:53687966 Pathogenic/Likely pathogenic Joubert syndrome
Meckel-Gruber syndrome
Joubert syndrome 7		 Criteria Provided
Multiple Submitters
No Conflicts
 CA395924597 rs_2151325787

2 SubmittersRCV001376781RCV002471102
NM_015272.5(RPGRIP1L):c.2397C>A (p.Cys799Ter) SNV
Germline		 Chr16:53645911 Pathogenic Joubert syndrome
Meckel-Gruber syndrome		 Criteria Provided
Single Submitter
 CA395914708 rs_758547965

1 SubmittersRCV001383982
NM_015272.5(RPGRIP1L):c.2093T>G (p.Leu698Ter) SNV
Germline		 Chr16:53652594 Pathogenic/Likely pathogenic Joubert syndrome
Meckel-Gruber syndrome
Joubert syndrome 7
Meckel syndrome, type 5
COACH syndrome 3		 Criteria Provided
Multiple Submitters
No Conflicts
 CA8057642 rs_201081228

2 SubmittersRCV001385484RCV002476728
NM_015272.5(RPGRIP1L):c.1645G>T (p.Glu549Ter) SNV
Germline		 Chr16:53656526 Pathogenic/Likely pathogenic Joubert syndrome
Meckel-Gruber syndrome
Joubert syndrome 7
Meckel syndrome, type 5
COACH syndrome 3
Joubert syndrome 7
Joubert syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA395918201 rs_1676833644

4 SubmittersRCV001384117RCV005014532RCV005864566RCV006636932
NM_015272.5(RPGRIP1L):c.1372G>T (p.Glu458Ter) SNV
Germline		 Chr16:53658443 Pathogenic/Likely pathogenic Joubert syndrome
Meckel-Gruber syndrome
Condition: not provided
Joubert syndrome 7
Meckel syndrome, type 5
COACH syndrome 3
Joubert syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA8057817 rs_776941281

5 SubmittersRCV001384296RCV001562284RCV002476726RCV006636935
NM_015272.5(RPGRIP1L):c.1252G>T (p.Glu418Ter) SNV
Germline		 Chr16:53658870 Pathogenic Joubert syndrome
Meckel-Gruber syndrome		 Criteria Provided
Single Submitter
 CA395920590 rs_1967512180

1 SubmittersRCV001382134
NM_015272.5(RPGRIP1L):c.1225A>T (p.Arg409Ter) SNV
Germline		 Chr16:53664888 Pathogenic Joubert syndrome
Meckel-Gruber syndrome		 Criteria Provided
Single Submitter
 CA395921496 rs_2151198227

1 SubmittersRCV001382008
NM_015272.5(RPGRIP1L):c.772C>T (p.Gln258Ter) SNV
Germline		 Chr16:53686437 Pathogenic/Likely pathogenic Joubert syndrome
Meckel-Gruber syndrome
Joubert syndrome 7
Meckel syndrome, type 5
COACH syndrome 3		 Criteria Provided
Multiple Submitters
No Conflicts
 CA395923737 rs_1970017927

2 SubmittersRCV001384638RCV005014533
NM_015272.5(RPGRIP1L):c.676G>T (p.Glu226Ter) SNV
Germline		 Chr16:53686533 Pathogenic Joubert syndrome
Meckel-Gruber syndrome		 Criteria Provided
Single Submitter
 CA395924254 rs_2151318201

1 SubmittersRCV001380033
NM_015272.5(RPGRIP1L):c.496G>T (p.Glu166Ter) SNV
Germline		 Chr16:53692099 Pathogenic Joubert syndrome
Meckel-Gruber syndrome		 Criteria Provided
Single Submitter
 CA395924682 rs_2151351169

1 SubmittersRCV001381374
NM_015272.5(RPGRIP1L):c.421C>T (p.Gln141Ter) SNV
Germline		 Chr16:53692174 Pathogenic Joubert syndrome
Meckel-Gruber syndrome		 Criteria Provided
Single Submitter
 CA395924845 rs_2151352275

1 SubmittersRCV001387377
NM_015272.5(RPGRIP1L):c.170T>A (p.Leu57Ter) SNV
Germline		 Chr16:53696211 Pathogenic/Likely pathogenic Joubert syndrome
Meckel-Gruber syndrome
Joubert syndrome 7
Meckel syndrome, type 5
COACH syndrome 3		 Criteria Provided
Multiple Submitters
No Conflicts
 CA395925935 rs_2151379380

2 SubmittersRCV001383483RCV005014530
NM_015272.5(RPGRIP1L):c.1323T>C (p.Leu441=) SNV
Germline		 Chr16:53658799 Conflicting classifications of pathogenicity Joubert syndrome
Meckel-Gruber syndrome
Condition: not provided
RPGRIP1L-related disorder		 Criteria Provided
Conflicting Classifications
 CA8057852 rs_376335724

3 SubmittersRCV001403637RCV002265028RCV004531229
NM_015272.5(RPGRIP1L):c.354A>G (p.Lys118=) SNV
Germline		 Chr16:53692241 Conflicting classifications of pathogenicity Joubert syndrome
Meckel-Gruber syndrome
RPGRIP1L-related disorder
Meckel syndrome, type 5
Joubert syndrome 7
COACH syndrome 3		 Criteria Provided
Conflicting Classifications
 CA495539241 rs_1253988919

3 SubmittersRCV001445389RCV004733321RCV005014566
NM_015272.5(RPGRIP1L):c.303G>T (p.Arg101=) SNV
Germline		 Chr16:53692292 Conflicting classifications of pathogenicity Joubert syndrome
Meckel-Gruber syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA495539269 rs_182207372

2 SubmittersRCV001449419RCV004812409
NM_015272.5(RPGRIP1L):c.2451C>T (p.Tyr817=) SNV
Germline		 Chr16:53645857 Conflicting classifications of pathogenicity Joubert syndrome
Meckel-Gruber syndrome
Condition: not provided
RPGRIP1L-related disorder		 Criteria Provided
Conflicting Classifications
 CA8057541 rs_145807002

3 SubmittersRCV001480835RCV003225186RCV004533843
NM_015272.5(RPGRIP1L):c.1351-11A>G SNV
Germline		 Chr16:53658475 Pathogenic/Likely pathogenic Meckel syndrome, type 5
Joubert syndrome 7
Joubert syndrome
Meckel-Gruber syndrome
Meckel syndrome, type 5
Joubert syndrome 7
COACH syndrome 3
Inborn genetic diseases		 Criteria Provided
Multiple Submitters
No Conflicts
 CA8057823 rs_750076702

5 SubmittersRCV001543698RCV003127988RCV003771669RCV005005957RCV005722490
NM_015272.5(RPGRIP1L):c.427C>T (p.Gln143Ter) SNV
Germline		 Chr16:53692168 Pathogenic Meckel syndrome, type 5
Joubert syndrome
Meckel-Gruber syndrome		 Criteria Provided
Single Submitter
 CA395924831 rs_1970430433

2 SubmittersRCV001543697RCV002568267
NM_015272.5(RPGRIP1L):c.1700C>T (p.Ala567Val) SNV
Germline		 Chr16:53652987 Conflicting classifications of pathogenicity Condition: not provided
Joubert syndrome
Meckel-Gruber syndrome
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA8057716 rs_553739434

3 SubmittersRCV001769011RCV002540481RCV003365447
NM_015272.5(RPGRIP1L):c.2305-1G>C SNV
Germline		 Chr16:53646004 Pathogenic Joubert syndrome
Meckel-Gruber syndrome		 Criteria Provided
Single Submitter
 CA395914958 rs_863225215

1 SubmittersRCV001900860
NM_015272.5(RPGRIP1L):c.1030-1G>T SNV
Germline		 Chr16:53671584 Likely pathogenic Meckel-Gruber syndrome
Joubert syndrome
Meckel syndrome, type 5
Joubert syndrome 7
COACH syndrome 3		 Criteria Provided
Multiple Submitters
No Conflicts
 CA395922704 rs_2151236867

2 SubmittersRCV002035891RCV005008403
NM_015272.5(RPGRIP1L):c.988C>T (p.Gln330Ter) SNV
Germline		 Chr16:53672911 Pathogenic Joubert syndrome
Meckel-Gruber syndrome		 Criteria Provided
Single Submitter
 CA395922815 rs_771058410

1 SubmittersRCV001897665
NM_015272.5(RPGRIP1L):c.1171C>T (p.Gln391Ter) SNV
Germline		 Chr16:53664942 Pathogenic/Likely pathogenic Joubert syndrome
Meckel-Gruber syndrome
Meckel syndrome, type 5
COACH syndrome 3
Joubert syndrome 7		 Criteria Provided
Multiple Submitters
No Conflicts
 CA395921612 rs_2151198563

2 SubmittersRCV001904296RCV005006109
NM_015272.5(RPGRIP1L):c.632+2T>C SNV
Germline		 Chr16:53687861 Likely pathogenic Meckel-Gruber syndrome
Joubert syndrome		 Criteria Provided
Single Submitter
 CA395924357 rs_2151325186

1 SubmittersRCV002028453
NM_015272.5(RPGRIP1L):c.3717G>A (p.Val1239=) SNV
Germline		 Chr16:53605599 Conflicting classifications of pathogenicity Meckel-Gruber syndrome
Joubert syndrome
Meckel syndrome, type 5
Joubert syndrome 7
COACH syndrome 3		 Criteria Provided
Conflicting Classifications
 CA281349877 rs_989489575

2 SubmittersRCV002032296RCV002507837
NM_015272.5(RPGRIP1L):c.2723G>A (p.Gly908Asp) SNV
Germline		 Chr16:53641436 Conflicting classifications of pathogenicity Joubert syndrome
Meckel-Gruber syndrome
Joubert syndrome 7		 Criteria Provided
Conflicting Classifications
 CA395927424 rs_1478290807

2 SubmittersRCV001921034RCV004594607
NM_015272.5(RPGRIP1L):c.1978C>T (p.Gln660Ter) SNV
Germline		 Chr16:53652709 Pathogenic/Likely pathogenic Joubert syndrome
Meckel-Gruber syndrome
Meckel syndrome, type 5
COACH syndrome 3
Joubert syndrome 7		 Criteria Provided
Multiple Submitters
No Conflicts
 CA395916913 rs_2151125946

2 SubmittersRCV001953061RCV005016915
NM_015272.5(RPGRIP1L):c.2304+1G>T SNV
Germline		 Chr16:53648963 Pathogenic/Likely pathogenic Meckel-Gruber syndrome
Joubert syndrome
Joubert syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA8057586 rs_746451396

2 SubmittersRCV002010577RCV006639379
NM_015272.5(RPGRIP1L):c.1350+1G>A SNV
Germline		 Chr16:53658771 Likely pathogenic Meckel-Gruber syndrome
Joubert syndrome		 Criteria Provided
Single Submitter
 CA395920070 rs_761435025

1 SubmittersRCV001964441
NM_015272.5(RPGRIP1L):c.3323G>A (p.Cys1108Tyr) SNV
Germline		 Chr16:53622328 Conflicting classifications of pathogenicity Meckel-Gruber syndrome
Joubert syndrome
Condition: not provided
RPGRIP1L-related disorder
Meckel syndrome, type 5
Joubert syndrome 7
COACH syndrome 3		 Criteria Provided
Conflicting Classifications
 CA281358356 rs_919333754

4 SubmittersRCV002007877RCV002243497RCV004733435RCV005016989
NM_015272.5(RPGRIP1L):c.2246G>A (p.Arg749Lys) SNV
Germline		 Chr16:53649022 Conflicting classifications of pathogenicity Meckel-Gruber syndrome
Joubert syndrome
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA8057594 rs_774573573

2 SubmittersRCV002017141RCV005473083
NM_015272.5(RPGRIP1L):c.3274A>G (p.Ile1092Val) SNV
Germline		 Chr16:53636459 Conflicting classifications of pathogenicity Joubert syndrome
Meckel-Gruber syndrome
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA395925653 rs_1965837844

2 SubmittersRCV001940705RCV005724651
NM_015272.5(RPGRIP1L):c.1905T>G (p.Tyr635Ter) SNV
Germline		 Chr16:53652782 Pathogenic/Likely pathogenic Meckel-Gruber syndrome
Joubert syndrome
Condition: not provided
Joubert syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA395917068 rs_1353551542

3 SubmittersRCV002002417RCV002473335RCV006639210
NM_015272.5(RPGRIP1L):c.633-1G>C SNV
Germline		 Chr16:53686577 Likely pathogenic Meckel-Gruber syndrome
Joubert syndrome		 Criteria Provided
Single Submitter
 CA395924352 rs_2151318564

1 SubmittersRCV001988174
NM_015272.5(RPGRIP1L):c.599T>G (p.Leu200Ter) SNV
Germline		 Chr16:53687896 Pathogenic/Likely pathogenic Meckel-Gruber syndrome
Joubert syndrome
Meckel syndrome, type 5
Joubert syndrome 7
COACH syndrome 3		 Criteria Provided
Multiple Submitters
No Conflicts
 CA8058080 rs_564992297

2 SubmittersRCV001993240RCV002497860
NM_015272.5(RPGRIP1L):c.3221-2A>G SNV
Germline		 Chr16:53636514 Likely pathogenic Meckel-Gruber syndrome
Joubert syndrome
Meckel syndrome, type 5
Joubert syndrome 7
COACH syndrome 3
Joubert syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA8057326 rs_200448428

3 SubmittersRCV001994321RCV005008350RCV006639337
NM_015272.5(RPGRIP1L):c.776+2T>C SNV
Germline		 Chr16:53686431 Likely pathogenic Meckel-Gruber syndrome
Joubert syndrome		 Criteria Provided
Single Submitter
 CA395923722 rs_2151317483

1 SubmittersRCV002012385
NM_015272.5(RPGRIP1L):c.1582-1G>C SNV
Germline		 Chr16:53656590 Likely pathogenic Meckel-Gruber syndrome
Joubert syndrome
Joubert syndrome 7		 Criteria Provided
Multiple Submitters
No Conflicts
 CA8057758 rs_750917538

2 SubmittersRCV002022295RCV004798936
NM_015272.5(RPGRIP1L):c.2152+1G>C SNV
Germline		 Chr16:53652534 Likely pathogenic Joubert syndrome
Meckel-Gruber syndrome
Joubert syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA281343801 rs_1006433886

2 SubmittersRCV002032934RCV006638987
NM_015272.5(RPGRIP1L):c.2451C>A (p.Tyr817Ter) SNV
Germline		 Chr16:53645857 Pathogenic/Likely pathogenic Meckel-Gruber syndrome
Joubert syndrome
RPGRIP1L-related disorder
Meckel syndrome, type 5
Joubert syndrome 7
COACH syndrome 3
Joubert syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA395914594 rs_145807002

4 SubmittersRCV001972569RCV004728993RCV005016953RCV006639269
NM_015272.5(RPGRIP1L):c.2874+1G>C SNV
Germline		 Chr16:53641284 Likely pathogenic Meckel-Gruber syndrome
Joubert syndrome
Joubert syndrome and related disorders
Joubert syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA8057445 rs_753075262

3 SubmittersRCV002005878RCV003226520RCV006639345
NM_015272.5(RPGRIP1L):c.2684-1G>A SNV
Germline		 Chr16:53641476 Likely pathogenic Meckel-Gruber syndrome
Joubert syndrome
Meckel syndrome, type 5
Joubert syndrome 7
COACH syndrome 3		 Criteria Provided
Multiple Submitters
No Conflicts
 CA395913269 rs_2151060257

2 SubmittersRCV002033536RCV005017020
NM_015272.5(RPGRIP1L):c.3220+1G>A SNV
Germline		 Chr16:53637694 Likely pathogenic Meckel-Gruber syndrome
Joubert syndrome
Joubert syndrome 7
COACH syndrome 3
Joubert syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA281369136 rs_969617857

3 SubmittersRCV002003648RCV005361897RCV006639348
NM_015272.5(RPGRIP1L):c.2958+1G>T SNV
Germline		 Chr16:53641032 Likely pathogenic Meckel-Gruber syndrome
Joubert syndrome
Meckel syndrome, type 5
Joubert syndrome 7
COACH syndrome 3		 Criteria Provided
Multiple Submitters
No Conflicts
 CA395926904 rs_2151056579

2 SubmittersRCV002018582RCV002498050
NM_015272.5(RPGRIP1L):c.1150C>T (p.Gln384Ter) SNV
Germline		 Chr16:53664963 Pathogenic/Likely pathogenic Meckel-Gruber syndrome
Joubert syndrome
Joubert syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA395921653 rs_1968112121

2 SubmittersRCV001992682RCV005607035
NM_015272.5(RPGRIP1L):c.2067A>G (p.Glu689=) SNV
Germline		 Chr16:53652620 Conflicting classifications of pathogenicity Joubert syndrome
Meckel-Gruber syndrome
Meckel syndrome, type 5
COACH syndrome 3
Joubert syndrome 7		 Criteria Provided
Conflicting Classifications
 CA281343913 rs_890062959

2 SubmittersRCV001948838RCV005016897
NM_015272.5(RPGRIP1L):c.231-15T>G SNV
Germline		 Chr16:53692379 Conflicting classifications of pathogenicity Joubert syndrome
Meckel-Gruber syndrome
Meckel syndrome, type 5
Joubert syndrome 7
COACH syndrome 3		 Criteria Provided
Conflicting Classifications
 CA8058165 rs_762320051

2 SubmittersRCV002140993RCV005017154
NM_015272.5(RPGRIP1L):c.2684-9A>G SNV
Germline		 Chr16:53641484 Likely pathogenic Meckel syndrome, type 5 Criteria Provided
Single Submitter
 CA622264361 rs_1211499888

1 SubmittersRCV002269807
NM_015272.5(RPGRIP1L):c.1897T>C (p.Cys633Arg) SNV
Germline		 Chr16:53652790 Likely pathogenic Joubert syndrome
Meckel-Gruber syndrome
RPGRIP1L-related disorder
Condition: not provided
Joubert syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA281344135 rs_898062661

4 SubmittersRCV003064336RCV004733561RCV006270569RCV006641174
NM_015272.5(RPGRIP1L):c.231-2A>G SNV
Germline		 Chr16:53692366 Pathogenic Joubert syndrome
Meckel-Gruber syndrome		 Criteria Provided
Single Submitter
 CA395925261 rs_2544710305

1 SubmittersRCV003041255
NM_015272.5(RPGRIP1L):c.548C>T (p.Ala183Val) SNV
Germline		 Chr16:53687947 Conflicting classifications of pathogenicity Joubert syndrome
Meckel-Gruber syndrome
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA395924550 rs_1209593787

2 SubmittersRCV003071568RCV005473318
NM_015272.5(RPGRIP1L):c.2332C>T (p.Gln778Ter) SNV
Germline		 Chr16:53645976 Pathogenic Joubert syndrome
Meckel-Gruber syndrome
RPGRIP1L-related disorder		 Criteria Provided
Single Submitter
 CA395914848 rs_2544109431

2 SubmittersRCV003087848RCV004733577
NM_015272.5(RPGRIP1L):c.2683+2T>C SNV
Germline		 Chr16:53645623 Likely pathogenic Joubert syndrome
Meckel-Gruber syndrome
Meckel syndrome, type 5
Joubert syndrome 7
COACH syndrome 3		 Criteria Provided
Multiple Submitters
No Conflicts
 CA395914064 rs_2544100125

2 SubmittersRCV003072457RCV005010973
NM_015272.5(RPGRIP1L):c.3324C>T (p.Cys1108=) SNV
Germline		 Chr16:53622327 Conflicting classifications of pathogenicity Joubert syndrome
Meckel-Gruber syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA495538090 rs_1402604190

2 SubmittersRCV003092631RCV006451321
NM_015272.5(RPGRIP1L):c.3432+1G>A SNV
Germline		 Chr16:53622218 Likely pathogenic Joubert syndrome
Meckel-Gruber syndrome
Meckel syndrome, type 5
Joubert syndrome 7
COACH syndrome 3		 Criteria Provided
Multiple Submitters
No Conflicts
 CA395923929 rs_2150974573

2 SubmittersRCV003092388RCV005010988
NM_015272.5(RPGRIP1L):c.3512G>A (p.Arg1171Gln) SNV
Germline		 Chr16:53619129 Conflicting classifications of pathogenicity Joubert syndrome
Meckel-Gruber syndrome
Inborn genetic diseases
RPGRIP1L-related disorder
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA8057266 rs_141808948

4 SubmittersRCV002619225RCV004661572RCV004540571RCV004593160
NM_015272.5(RPGRIP1L):c.541C>T (p.Gln181Ter) SNV
Germline		 Chr16:53687954 Pathogenic/Likely pathogenic Joubert syndrome
Meckel-Gruber syndrome
Meckel syndrome, type 5
Joubert syndrome 7
COACH syndrome 3		 Criteria Provided
Multiple Submitters
No Conflicts
 CA395924569 rs_1259684278

2 SubmittersRCV002616136RCV005021616
NM_015272.5(RPGRIP1L):c.1914T>A (p.Tyr638Ter) SNV
Germline		 Chr16:53652773 Pathogenic Joubert syndrome
Meckel-Gruber syndrome		 Criteria Provided
Single Submitter
 CA395917048 rs_1444726635

1 SubmittersRCV002629315
NM_015272.5(RPGRIP1L):c.529+1G>A SNV
Germline		 Chr16:53692065 Likely pathogenic Joubert syndrome
Meckel-Gruber syndrome
Joubert syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA395924606 rs_1386334644

2 SubmittersRCV003108351RCV006641276
NM_015272.5(RPGRIP1L):c.3682C>T (p.Gln1228Ter) SNV
Germline		 Chr16:53610986 Pathogenic/Likely pathogenic Meckel-Gruber syndrome
Joubert syndrome
Meckel syndrome, type 5
COACH syndrome 3
Joubert syndrome 7
Joubert syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA395922257 rs_1964000214

3 SubmittersRCV002576155RCV005019233RCV006640972
NM_015272.5(RPGRIP1L):c.2875-5C>G SNV
Germline		 Chr16:53641121 Conflicting classifications of pathogenicity Meckel-Gruber syndrome
Joubert syndrome
Meckel syndrome, type 5
COACH syndrome 3
Joubert syndrome 7		 Criteria Provided
Conflicting Classifications
 CA8057428 rs_758927533

2 SubmittersRCV002572136RCV005008612
NM_015272.5(RPGRIP1L):c.882G>T (p.Glu294Asp) SNV
Germline		 Chr16:53675017 Conflicting classifications of pathogenicity Joubert syndrome
Meckel-Gruber syndrome
Meckel syndrome, type 5
Joubert syndrome 7
COACH syndrome 3		 Criteria Provided
Conflicting Classifications
 CA395923076 rs_2544513749

2 SubmittersRCV002730165RCV005019354
NM_015272.5(RPGRIP1L):c.1104-2A>G SNV
Germline		 Chr16:53665011 Likely pathogenic Joubert syndrome
Meckel-Gruber syndrome
Condition: not provided		 Criteria Provided
Single Submitter
 CA395921767 rs_2544401345

2 SubmittersRCV002756620RCV003151418
NM_015272.5(RPGRIP1L):c.632T>A (p.Leu211Ter) SNV
Germline		 Chr16:53687863 Pathogenic Joubert syndrome
Meckel-Gruber syndrome
Condition: not provided		 Criteria Provided
Single Submitter
 CA395924364 rs_1970129424

2 SubmittersRCV002756621RCV003151419
NM_015272.5(RPGRIP1L):c.2683+1G>T SNV
Germline		 Chr16:53645624 Likely pathogenic Joubert syndrome
Meckel-Gruber syndrome		 Criteria Provided
Single Submitter
 CA395914066 rs_2544100152

1 SubmittersRCV002824692
NM_015272.5(RPGRIP1L):c.511C>T (p.Gln171Ter) SNV
Germline		 Chr16:53692084 Pathogenic Joubert syndrome
Meckel-Gruber syndrome		 Criteria Provided
Single Submitter
 CA281375111 rs_866067386

1 SubmittersRCV002838207
NM_015272.5(RPGRIP1L):c.3160G>T (p.Glu1054Ter) SNV
Germline		 Chr16:53637755 Pathogenic Joubert syndrome
Meckel-Gruber syndrome		 Criteria Provided
Single Submitter
 CA281369229 rs_987737814

1 SubmittersRCV002875788
NM_015272.5(RPGRIP1L):c.3067C>T (p.Gln1023Ter) SNV
Germline		 Chr16:53637848 Pathogenic Joubert syndrome
Meckel-Gruber syndrome		 Criteria Provided
Single Submitter
 CA395926467 rs_1483413866

1 SubmittersRCV002847855
NM_015272.5(RPGRIP1L):c.883-20A>G SNV
Germline		 Chr16:53673036 Conflicting classifications of pathogenicity Joubert syndrome
Meckel-Gruber syndrome
Meckel syndrome, type 5
Joubert syndrome 7
COACH syndrome 3		 Criteria Provided
Conflicting Classifications
 CA8057984 rs_781088450

2 SubmittersRCV002958733RCV005010817
NM_015272.5(RPGRIP1L):c.2003T>A (p.Leu668Ter) SNV
Germline		 Chr16:53652684 Pathogenic Joubert syndrome
Meckel-Gruber syndrome		 Criteria Provided
Single Submitter
 CA395916864 rs_2544205707

1 SubmittersRCV003025517
NM_015272.5(RPGRIP1L):c.230+1G>T SNV
Germline		 Chr16:53696150 Likely pathogenic Joubert syndrome
Meckel-Gruber syndrome		 Criteria Provided
Single Submitter
 CA395925687 rs_786204135

1 SubmittersRCV003012502
NM_015272.5(RPGRIP1L):c.1350+1G>T SNV
Germline		 Chr16:53658771 Likely pathogenic Joubert syndrome
Meckel-Gruber syndrome		 Criteria Provided
Single Submitter
 CA8057839 rs_761435025

1 SubmittersRCV003028641
NM_015272.5(RPGRIP1L):c.734T>G (p.Leu245Ter) SNV
Germline		 Chr16:53686475 Pathogenic Joubert syndrome
Meckel-Gruber syndrome		 Criteria Provided
Single Submitter
 CA395923815 rs_2544638776

1 SubmittersRCV003045681
NM_015272.5(RPGRIP1L):c.325G>T (p.Glu109Ter) SNV
Germline		 Chr16:53692270 Pathogenic Joubert syndrome
Meckel-Gruber syndrome		 Criteria Provided
Single Submitter
 CA395925069 rs_2544707873

1 SubmittersRCV003059450
NM_015272.5(RPGRIP1L):c.439C>T (p.Gln147Ter) SNV
Germline		 Chr16:53692156 Likely pathogenic Joubert syndrome 7 Criteria Provided
Single Submitter
 CA395924803 rs_2544705725

1 SubmittersRCV002790012
NM_015272.5(RPGRIP1L):c.46G>A (p.Asp16Asn) SNV
Germline		 Chr16:53700678 Likely pathogenic Bardet-Biedl syndrome Criteria Provided
Single Submitter
 CA395926803 rs_1168346867

1 SubmittersRCV003222507
NM_015272.5(RPGRIP1L):c.650C>A (p.Ser217Ter) SNV
Germline		 Chr16:53686559 Likely pathogenic Joubert syndrome and related disorders Criteria Provided
Single Submitter
 CA395924311 rs_2544640834

1 SubmittersRCV003226809
NM_015272.5(RPGRIP1L):c.872A>G (p.Gln291Arg) SNV
Unknown		 Chr16:53675027 Likely pathogenic Leber congenital amaurosis Criteria Provided
Single Submitter
 CA395923099 rs_1236687801

1 SubmittersRCV003389611
NM_015272.5(RPGRIP1L):c.2748G>A (p.Trp916Ter) SNV
Germline		 Chr16:53641411 Likely pathogenic RPGRIP1L-related disorder Criteria Provided
Single Submitter
 CA395927368 rs_2544048142

1 SubmittersRCV004528540
NM_015272.5(RPGRIP1L):c.3616+2T>C SNV
Germline		 Chr16:53619023 Likely pathogenic Joubert syndrome
Meckel-Gruber syndrome		 Criteria Provided
Single Submitter
 CA395923317 rs_2543788281

1 SubmittersRCV003785479
NM_015272.5(RPGRIP1L):c.3433-1G>A SNV
Germline		 Chr16:53619209 Likely pathogenic Joubert syndrome
Meckel-Gruber syndrome		 Criteria Provided
Single Submitter
 CA395923717 rs_1241312606

1 SubmittersRCV003782257
NM_015272.5(RPGRIP1L):c.3593G>A (p.Trp1198Ter) SNV
Germline		 Chr16:53619048 Pathogenic/Likely pathogenic Joubert syndrome
Meckel-Gruber syndrome
Joubert syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA395923381 rs_1598241401

2 SubmittersRCV003782798RCV006643223
NM_015272.5(RPGRIP1L):c.2959-8A>G SNV
Germline		 Chr16:53638419 Conflicting classifications of pathogenicity Joubert syndrome
Meckel-Gruber syndrome
Meckel syndrome, type 5
Joubert syndrome 7
COACH syndrome 3		 Criteria Provided
Conflicting Classifications
 CA2633237284 rs_2544002792

2 SubmittersRCV003789512RCV005013185
NM_015272.5(RPGRIP1L):c.2958+1G>A SNV
Germline		 Chr16:53641032 Likely pathogenic Joubert syndrome
Meckel-Gruber syndrome
RPGRIP1L-related disorder		 Criteria Provided
Single Submitter
 CA395926908 rs_2151056579

2 SubmittersRCV003789555RCV004542263
NM_015272.5(RPGRIP1L):c.2221C>T (p.Gln741Ter) SNV
Germline		 Chr16:53649047 Pathogenic Joubert syndrome
Meckel-Gruber syndrome		 Criteria Provided
Single Submitter
 CA395915651 rs_2544154546

1 SubmittersRCV003795640
NM_015272.5(RPGRIP1L):c.3432+2T>C SNV
Germline		 Chr16:53622217 Likely pathogenic Joubert syndrome
Meckel-Gruber syndrome		 Criteria Provided
Single Submitter
 CA395923925 rs_2543820049

1 SubmittersRCV003797716
NM_015272.5(RPGRIP1L):c.2996C>G (p.Ser999Ter) SNV
Germline		 Chr16:53638374 Pathogenic Joubert syndrome
Meckel-Gruber syndrome		 Criteria Provided
Single Submitter
 CA395926626 rs_770414663

1 SubmittersRCV003782662
NM_015272.5(RPGRIP1L):c.3439G>T (p.Glu1147Ter) SNV
Germline		 Chr16:53619202 Pathogenic Joubert syndrome
Meckel-Gruber syndrome		 Criteria Provided
Single Submitter
 CA8057284 rs_752266252

1 SubmittersRCV003788615
NM_015272.5(RPGRIP1L):c.1732C>T (p.Gln578Ter) SNV
Germline		 Chr16:53652955 Pathogenic Joubert syndrome
Meckel-Gruber syndrome		 Criteria Provided
Single Submitter
 CA395917451 rs_2544213172

1 SubmittersRCV003788796
NM_015272.5(RPGRIP1L):c.2304+14G>C SNV
Germline		 Chr16:53648950 Conflicting classifications of pathogenicity Joubert syndrome
Meckel-Gruber syndrome
Meckel syndrome, type 5
Joubert syndrome 7
COACH syndrome 3		 Criteria Provided
Conflicting Classifications
 CA8057583 rs_574635809

2 SubmittersRCV003789038RCV005014958
NM_015272.5(RPGRIP1L):c.632+1G>T SNV
Germline		 Chr16:53687862 Likely pathogenic Joubert syndrome
Meckel-Gruber syndrome		 Criteria Provided
Single Submitter
 CA395924359 rs_1376397728

1 SubmittersRCV003792747
NM_015272.5(RPGRIP1L):c.3835+13G>A SNV
Germline		 Chr16:53605468 Conflicting classifications of pathogenicity Joubert syndrome
Meckel-Gruber syndrome
Meckel syndrome, type 5
Joubert syndrome 7
COACH syndrome 3		 Criteria Provided
Conflicting Classifications
 CA395920796 rs_776026998

2 SubmittersRCV003792956RCV005013188
NM_015272.5(RPGRIP1L):c.1581+2T>C SNV
Germline		 Chr16:53657451 Likely pathogenic Joubert syndrome
Meckel-Gruber syndrome		 Criteria Provided
Single Submitter
 CA395918617 rs_1567847278

1 SubmittersRCV003786365
NM_015272.5(RPGRIP1L):c.779C>G (p.Ser260Ter) SNV
Germline		 Chr16:53675120 Pathogenic Joubert syndrome
Meckel-Gruber syndrome		 Criteria Provided
Single Submitter
 CA395923303 rs_199885005

1 SubmittersRCV003791852
NM_015272.5(RPGRIP1L):c.1702C>T (p.Gln568Ter) SNV
Germline		 Chr16:53652985 Pathogenic Joubert syndrome
Meckel-Gruber syndrome		 Criteria Provided
Single Submitter
 CA395917519 rs_1349804201

1 SubmittersRCV003808158
NM_015272.5(RPGRIP1L):c.3432+1G>T SNV
Germline		 Chr16:53622218 Likely pathogenic Joubert syndrome
Meckel-Gruber syndrome		 Criteria Provided
Single Submitter
 CA395923927 rs_2150974573

1 SubmittersRCV003791769
NM_015272.5(RPGRIP1L):c.616G>T (p.Gly206Ter) SNV
Germline		 Chr16:53687879 Pathogenic Joubert syndrome
Meckel-Gruber syndrome		 Criteria Provided
Single Submitter
 CA395924399 rs_2544658236

1 SubmittersRCV003805953
NM_015272.5(RPGRIP1L):c.776+1G>C SNV
Germline		 Chr16:53686432 Likely pathogenic Joubert syndrome
Meckel-Gruber syndrome
Meckel syndrome, type 5
Joubert syndrome 7
COACH syndrome 3		 Criteria Provided
Multiple Submitters
No Conflicts
 CA395923724 rs_771226563

2 SubmittersRCV003798673RCV005014972
NM_015272.5(RPGRIP1L):c.2304+1G>A SNV
Germline		 Chr16:53648963 Likely pathogenic Joubert syndrome
Meckel-Gruber syndrome		 Criteria Provided
Single Submitter
 CA395915263 rs_746451396

1 SubmittersRCV003790813
NM_015272.5(RPGRIP1L):c.1213G>T (p.Glu405Ter) SNV
Germline		 Chr16:53664900 Pathogenic Joubert syndrome
Meckel-Gruber syndrome		 Criteria Provided
Single Submitter
 CA281351131 rs_747612183

1 SubmittersRCV003799202
NM_015272.5(RPGRIP1L):c.2428C>T (p.Gln810Ter) SNV
Germline		 Chr16:53645880 Pathogenic/Likely pathogenic Joubert syndrome
Meckel-Gruber syndrome
Meckel syndrome, type 5
Joubert syndrome 7
COACH syndrome 3		 Criteria Provided
Multiple Submitters
No Conflicts
 CA395914645 rs_2544106771

2 SubmittersRCV003797513RCV005014974
NM_015272.5(RPGRIP1L):c.707T>A (p.Leu236Ter) SNV
Germline		 Chr16:53686502 Pathogenic Joubert syndrome
Meckel-Gruber syndrome		 Criteria Provided
Single Submitter
 CA395923881 rs_1970024714

1 SubmittersRCV003808624
NM_015272.5(RPGRIP1L):c.2565C>A (p.Tyr855Ter) SNV
Germline		 Chr16:53645743 Pathogenic/Likely pathogenic Joubert syndrome
Meckel-Gruber syndrome
Joubert syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA281339125 rs_886052096

2 SubmittersRCV003808931RCV006643252
NM_015272.5(RPGRIP1L):c.3430C>T (p.Gln1144Ter) SNV
Germline		 Chr16:53622221 Pathogenic/Likely pathogenic Joubert syndrome
Meckel-Gruber syndrome
Meckel syndrome, type 5
Joubert syndrome 7
COACH syndrome 3		 Criteria Provided
Multiple Submitters
No Conflicts
 CA395923935 rs_1050777749

2 SubmittersRCV003809291RCV005013198
NM_015272.5(RPGRIP1L):c.2920A>T (p.Lys974Ter) SNV
Germline		 Chr16:53641071 Pathogenic Joubert syndrome
Meckel-Gruber syndrome		 Criteria Provided
Single Submitter
 CA395926997 rs_1353809695

1 SubmittersRCV003802210
NM_015272.5(RPGRIP1L):c.1581+1G>A SNV
Germline		 Chr16:53657452 Likely pathogenic Joubert syndrome
Meckel-Gruber syndrome		 Criteria Provided
Single Submitter
 CA395918623 rs_2544279628

1 SubmittersRCV003813698
NM_015272.5(RPGRIP1L):c.1246C>T (p.Gln416Ter) SNV
Germline		 Chr16:53658876 Pathogenic Joubert syndrome
Meckel-Gruber syndrome		 Criteria Provided
Single Submitter
 CA395920629 rs_1263265387

1 SubmittersRCV003815386
NM_015272.5(RPGRIP1L):c.1351-2A>C SNV
Germline		 Chr16:53658466 Likely pathogenic Joubert syndrome
Meckel-Gruber syndrome		 Criteria Provided
Single Submitter
 CA395920027 rs_2544300648

1 SubmittersRCV003813054
NM_015272.5(RPGRIP1L):c.2573C>A (p.Ser858Ter) SNV
Germline		 Chr16:53645735 Pathogenic Joubert syndrome
Meckel-Gruber syndrome		 Criteria Provided
Single Submitter
 CA395914312 rs_2544102925

1 SubmittersRCV003813088
NM_015272.5(RPGRIP1L):c.1243+2T>G SNV
Germline		 Chr16:53664868 Likely pathogenic Joubert syndrome
Meckel-Gruber syndrome		 Criteria Provided
Single Submitter
 CA395921448 rs_2544398205

1 SubmittersRCV003813176
NM_015272.5(RPGRIP1L):c.952A>T (p.Lys318Ter) SNV
Germline		 Chr16:53672947 Pathogenic Joubert syndrome
Meckel-Gruber syndrome		 Criteria Provided
Single Submitter
 CA395922901 rs_2544491095

1 SubmittersRCV003802507
NM_015272.5(RPGRIP1L):c.2875-2A>G SNV
Germline		 Chr16:53641118 Likely pathogenic Joubert syndrome
Meckel-Gruber syndrome		 Criteria Provided
Single Submitter
 CA395927100 rs_2544040196

1 SubmittersRCV003810397
NM_015272.5(RPGRIP1L):c.674T>G (p.Leu225Ter) SNV
Germline		 Chr16:53686535 Likely pathogenic RPGRIP1L-related disorder
COACH syndrome 3
Meckel syndrome, type 5
Joubert syndrome 7		 Criteria Provided
Single Submitter
 CA395924257 rs_746227955

2 SubmittersRCV004531844RCV005015087
NM_015272.5(RPGRIP1L):c.530-1G>A SNV
Germline		 Chr16:53687966 Likely pathogenic RPGRIP1L-related disorder No Assertion Criteria Provided

1 SubmittersRCV004726299
NM_015272.5(RPGRIP1L):c.2622T>C (p.Asn874=) SNV
Germline		 Chr16:53645686 Conflicting classifications of pathogenicity RPGRIP1L-related disorder
Joubert syndrome		 No Assertion Criteria Provided

2 SubmittersRCV004733704RCV005610725
NM_015272.5(RPGRIP1L):c.2450A>G (p.Tyr817Cys) SNV
Germline		 Chr16:53645858 Likely pathogenic Joubert syndrome and related disorders Criteria Provided
Single Submitter

1 SubmittersRCV004766774
NM_015272.5(RPGRIP1L):c.3701+1G>A SNV
Germline		 Chr16:53610966 Likely pathogenic Meckel syndrome, type 5
Joubert syndrome 7
COACH syndrome 3		 Criteria Provided
Single Submitter

1 SubmittersRCV005009823
NM_015272.5(RPGRIP1L):c.3217G>T (p.Glu1073Ter) SNV
Germline		 Chr16:53637698 Likely pathogenic Meckel syndrome, type 5
Joubert syndrome 7
COACH syndrome 3		 Criteria Provided
Single Submitter

1 SubmittersRCV005009830
NM_015272.5(RPGRIP1L):c.2896C>T (p.Gln966Ter) SNV
Germline		 Chr16:53641095 Likely pathogenic Meckel syndrome, type 5
Joubert syndrome 7
COACH syndrome 3		 Criteria Provided
Single Submitter

1 SubmittersRCV005009833
NM_015272.5(RPGRIP1L):c.2305-2A>G SNV
Germline		 Chr16:53646005 Likely pathogenic Meckel syndrome, type 5
COACH syndrome 3
Joubert syndrome 7
Joubert syndrome		 Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005009839RCV006637186
NM_015272.5(RPGRIP1L):c.2179G>A (p.Gly727Ser) SNV
Germline		 Chr16:53649089 Likely pathogenic Meckel syndrome, type 5
Joubert syndrome 7
COACH syndrome 3		 Criteria Provided
Single Submitter

1 SubmittersRCV005009840
NM_015272.5(RPGRIP1L):c.2152+1G>A SNV
Germline		 Chr16:53652534 Likely pathogenic Meckel syndrome, type 5
COACH syndrome 3
Joubert syndrome 7
Joubert syndrome		 Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005009843RCV005610761
NM_015272.5(RPGRIP1L):c.1405C>T (p.Gln469Ter) SNV
Germline		 Chr16:53657629 Likely pathogenic Meckel syndrome, type 5
Joubert syndrome 7
COACH syndrome 3		 Criteria Provided
Single Submitter

1 SubmittersRCV005009854
NM_015272.5(RPGRIP1L):c.1264C>T (p.Gln422Ter) SNV
Germline		 Chr16:53658858 Likely pathogenic Meckel syndrome, type 5
Joubert syndrome 7
COACH syndrome 3		 Criteria Provided
Single Submitter

1 SubmittersRCV005009856
NM_015272.5(RPGRIP1L):c.1229T>G (p.Leu410Ter) SNV
Germline		 Chr16:53664884 Likely pathogenic Meckel syndrome, type 5
Joubert syndrome 7
COACH syndrome 3		 Criteria Provided
Single Submitter

1 SubmittersRCV005015584
NM_015272.5(RPGRIP1L):c.882+1G>T SNV
Germline		 Chr16:53675016 Likely pathogenic Meckel syndrome, type 5
COACH syndrome 3
Joubert syndrome 7
Joubert syndrome
Meckel-Gruber syndrome		 Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005015588RCV006564229
NM_015272.5(RPGRIP1L):c.188T>G (p.Leu63Ter) SNV
Germline		 Chr16:53696193 Likely pathogenic Meckel syndrome, type 5
Joubert syndrome 7
COACH syndrome 3		 Criteria Provided
Single Submitter

1 SubmittersRCV005015603
NM_015272.5(RPGRIP1L):c.307G>T (p.Gly103Ter) SNV
Germline		 Chr16:53692288 Likely pathogenic Joubert syndrome Criteria Provided
Single Submitter

1 SubmittersRCV005607982
NM_015272.5(RPGRIP1L):c.1699+1G>A SNV
Germline		 Chr16:53656471 Pathogenic Joubert syndrome Criteria Provided
Single Submitter

1 SubmittersRCV005607984
NM_015272.5(RPGRIP1L):c.231-1G>T SNV
Germline		 Chr16:53692365 Pathogenic Joubert syndrome
Joubert syndrome
Meckel-Gruber syndrome		 Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005608017RCV006568352
NM_015272.5(RPGRIP1L):c.2153-2A>G SNV
Germline		 Chr16:53649117 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter

1 SubmittersRCV005631444
NM_015272.5(RPGRIP1L):c.435C>G (p.Tyr145Ter) SNV
Germline		 Chr16:53692160 Pathogenic Meckel syndrome, type 5
COACH syndrome 3
Joubert syndrome 7		 Criteria Provided
Single Submitter

1 SubmittersRCV006257436
NM_015272.5(RPGRIP1L):c.1039A>T (p.Arg347Ter) SNV
Germline		 Chr16:53671574 Likely pathogenic Joubert syndrome Criteria Provided
Single Submitter

1 SubmittersRCV006643801
NM_015272.5(RPGRIP1L):c.1060G>T (p.Glu354Ter) SNV
Germline		 Chr16:53671553 Likely pathogenic Joubert syndrome Criteria Provided
Single Submitter

1 SubmittersRCV006643802
NM_015272.5(RPGRIP1L):c.1162C>T (p.Gln388Ter) SNV
Germline		 Chr16:53664951 Likely pathogenic Joubert syndrome Criteria Provided
Single Submitter

1 SubmittersRCV006643803
NM_015272.5(RPGRIP1L):c.1229T>A (p.Leu410Ter) SNV
Germline		 Chr16:53664884 Likely pathogenic Joubert syndrome Criteria Provided
Single Submitter

1 SubmittersRCV006643804
NM_015272.5(RPGRIP1L):c.1324A>T (p.Lys442Ter) SNV
Germline		 Chr16:53658798 Likely pathogenic Joubert syndrome Criteria Provided
Single Submitter

1 SubmittersRCV006643806
NM_015272.5(RPGRIP1L):c.1351G>T (p.Glu451Ter) SNV
Germline		 Chr16:53658464 Likely pathogenic Joubert syndrome Criteria Provided
Single Submitter

1 SubmittersRCV006643807
NM_015272.5(RPGRIP1L):c.1381G>T (p.Glu461Ter) SNV
Germline		 Chr16:53658434 Likely pathogenic Joubert syndrome Criteria Provided
Single Submitter

1 SubmittersRCV006643808
NM_015272.5(RPGRIP1L):c.142G>T (p.Glu48Ter) SNV
Germline		 Chr16:53696239 Likely pathogenic Joubert syndrome Criteria Provided
Single Submitter

1 SubmittersRCV006643809
NM_015272.5(RPGRIP1L):c.1960G>T (p.Glu654Ter) SNV
Germline		 Chr16:53652727 Likely pathogenic Joubert syndrome Criteria Provided
Single Submitter

1 SubmittersRCV006637543
NM_015272.5(RPGRIP1L):c.2304+2T>C SNV
Germline		 Chr16:53648962 Pathogenic Joubert syndrome Criteria Provided
Single Submitter

1 SubmittersRCV006637545
NM_015272.5(RPGRIP1L):c.3061-2A>G SNV
Germline		 Chr16:53637856 Likely pathogenic Joubert syndrome Criteria Provided
Single Submitter

1 SubmittersRCV006637550
NM_015272.5(RPGRIP1L):c.3437C>A (p.Ser1146Ter) SNV
Germline		 Chr16:53619204 Likely pathogenic Joubert syndrome Criteria Provided
Single Submitter

1 SubmittersRCV006637551
NM_015272.5(RPGRIP1L):c.3603T>G (p.Tyr1201Ter) SNV
Germline		 Chr16:53619038 Likely pathogenic Joubert syndrome Criteria Provided
Single Submitter

1 SubmittersRCV006637554
NM_015272.5(RPGRIP1L):c.514G>T (p.Glu172Ter) SNV
Germline		 Chr16:53692081 Likely pathogenic Joubert syndrome Criteria Provided
Single Submitter

1 SubmittersRCV006637556
NM_015272.5(RPGRIP1L):c.718G>T (p.Glu240Ter) SNV
Germline		 Chr16:53686491 Likely pathogenic Joubert syndrome Criteria Provided
Single Submitter

1 SubmittersRCV006637558
NM_015272.5(RPGRIP1L):c.724G>T (p.Glu242Ter) SNV
Germline		 Chr16:53686485 Likely pathogenic Joubert syndrome Criteria Provided
Single Submitter

1 SubmittersRCV006637559
NM_015272.5(RPGRIP1L):c.820C>T (p.Gln274Ter) SNV
Germline		 Chr16:53675079 Likely pathogenic Joubert syndrome Criteria Provided
Single Submitter

1 SubmittersRCV006637561
NM_015272.5(RPGRIP1L):c.877C>T (p.Gln293Ter) SNV
Germline		 Chr16:53675022 Likely pathogenic Joubert syndrome Criteria Provided
Single Submitter

1 SubmittersRCV006637562