A total 229 pathogenic variants reported in gene RPGR interacting protein 1 (RPGRIP1)  
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_020366.4(RPGRIP1):c.194G>A (p.Trp65Ter) SNV
Germline
Chr14:21294785 Pathogenic Leber congenital amaurosis 6
Leber congenital amaurosis
No Assertion Criteria Provided
CA117158 rs_137853124

2 SubmittersRCV000005271RCV000787885

NM_020366.4(RPGRIP1):c.2480G>T (p.Arg827Leu) SNV
Germline
Chr14:21325943 Likely pathogenic Cone-rod dystrophy 13
Condition: not provided
Retinal dystrophy
Criteria Provided
Single Submitter
CA227911 rs_28937883

4 SubmittersRCV000005274RCV000086245RCV004794325

NM_020366.4(RPGRIP1):c.2555G>A (p.Arg852Gln) SNV
Germline
Chr14:21326018 Conflicting classifications of pathogenicity Condition: not provided
not specified
Cone-rod dystrophy 13
Leber congenital amaurosis 6
Cone-rod dystrophy 13
Leber congenital amaurosis 6
Retinal dystrophy
Optic atrophy
Criteria Provided
Conflicting Classifications
CA223562 rs_181758389

7 SubmittersRCV000082000RCV001002311RCV001111273RCV001111274RCV001513784RCV004815013RCV004815014

NM_020366.4(RPGRIP1):c.2775G>A (p.Trp925Ter) SNV
Germline
Chr14:21327687 Pathogenic Condition: not provided
Leber congenital amaurosis
Cone-rod dystrophy 13
Leber congenital amaurosis 6
Cone-rod dystrophy 13
Leber congenital amaurosis 6
Criteria Provided
Multiple Submitters
No Conflicts
CA223564 rs_398124354

4 SubmittersRCV000082001RCV000710048RCV001800387RCV001800386RCV001857395

NM_020366.4(RPGRIP1):c.3414C>T (p.Asn1138=) SNV
Germline
Chr14:21343110 Conflicting classifications of pathogenicity Condition: not provided
Cone-rod dystrophy 13
Leber congenital amaurosis 6
Criteria Provided
Conflicting Classifications
CA223566 rs_398124355

2 SubmittersRCV000082002RCV002055216

NM_020366.4(RPGRIP1):c.783G>A (p.Gln261=) SNV
Germline
Chr14:21303526 Conflicting classifications of pathogenicity Condition: not provided
Cone-rod dystrophy 13
Leber congenital amaurosis 6
Criteria Provided
Conflicting Classifications
CA223570 rs_398124356

2 SubmittersRCV000082004RCV002055217

NM_020366.4(RPGRIP1):c.2237G>A (p.Gly746Glu) SNV
Germline
Chr14:21325253 Likely pathogenic Condition: not provided
Leber congenital amaurosis 6
No Assertion Criteria Provided
CA227910 rs_61751268

2 SubmittersRCV000086244RCV001261183

NM_020366.4(RPGRIP1):c.1892A>T (p.His631Leu) SNV
Unknown
Chr14:21324747 Pathogenic Leber congenital amaurosis 6 No Assertion Criteria Provided
CA170857 rs_535922252

1 SubmittersRCV000144462

NM_020366.4(RPGRIP1):c.832C>T (p.Arg278Ter) SNV
Germline
Chr14:21307762 Pathogenic Leber congenital amaurosis 6
Cone-rod dystrophy 13
Leber congenital amaurosis 6
Criteria Provided
Multiple Submitters
No Conflicts
CA170861 rs_587783018

4 SubmittersRCV000144469RCV001380810

NM_020366.4(RPGRIP1):c.2356C>T (p.Gln786Ter) SNV
Unknown
Chr14:21325372 Pathogenic Leber congenital amaurosis 6 No Assertion Criteria Provided
CA170863 rs_587783019

1 SubmittersRCV000144470

NM_020366.4(RPGRIP1):c.154C>T (p.Arg52Ter) SNV
Germline
Chr14:21294745 Pathogenic/Likely pathogenic Cone-rod dystrophy 13
Condition: not provided
Leber congenital amaurosis 6
Leber congenital amaurosis 6
Cone-rod dystrophy 13
Retinitis pigmentosa
Criteria Provided
Multiple Submitters
No Conflicts
CA201680 rs_192003551

8 SubmittersRCV000175918RCV000724658RCV001261169RCV001852161RCV005417990

NM_020366.4(RPGRIP1):c.95T>A (p.Met32Lys) SNV
Germline
Chr14:21294686 Conflicting classifications of pathogenicity Condition: not provided
Leber congenital amaurosis 6
Cone-rod dystrophy 13
Cone-rod dystrophy 13
Leber congenital amaurosis 6
not specified
Retinal dystrophy
Criteria Provided
Conflicting Classifications
CA241768 rs_200510462

11 SubmittersRCV000175919RCV000763911RCV001110994RCV001110995RCV001698989RCV004816274

NM_020366.4(RPGRIP1):c.3749-2A>G SNV
Germline
Chr14:21351102 Conflicting classifications of pathogenicity Condition: not provided
Leber congenital amaurosis 6
Cone-rod dystrophy 13
Leber congenital amaurosis 6
Cone-rod dystrophy 13
Criteria Provided
Conflicting Classifications
CA201956 rs_376517859

3 SubmittersRCV000176499RCV001226493RCV001800514RCV001800515

NM_020366.4(RPGRIP1):c.808A>G (p.Ile270Val) SNV
Germline
Chr14:21307738 Conflicting classifications of pathogenicity Anophthalmia-microphthalmia syndrome
Condition: not provided
not specified
Leber congenital amaurosis 6
Cone-rod dystrophy 13
Cone-rod dystrophy 13
Leber congenital amaurosis 6
RPGRIP1-related disorder
Criteria Provided
Conflicting Classifications
CA071653 rs_372615343

6 SubmittersRCV000207372RCV000384797RCV001002218RCV001086986RCV001800534RCV001800533RCV003955239

NM_020366.4(RPGRIP1):c.1303A>T (p.Lys435Ter) SNV
Germline
Chr14:21317847 Pathogenic Retinal dystrophy
Leber congenital amaurosis 6
Criteria Provided
Single Submitter
CA10581688 rs_878853392

2 SubmittersRCV000225543RCV001198056

NM_020366.4(RPGRIP1):c.1445T>A (p.Leu482Ter) SNV
Germline
Chr14:21320155 Likely pathogenic Retinal dystrophy No Assertion Criteria Provided
CA10581689 rs_878853391

1 SubmittersRCV000225431

NM_020366.4(RPGRIP1):c.2314C>T (p.Gln772Ter) SNV
Germline
Chr14:21325330 Pathogenic Retinal dystrophy
Cone-rod dystrophy 13
Leber congenital amaurosis 6
Criteria Provided
Single Submitter
CA7089216 rs_577932201

2 SubmittersRCV000225680RCV002516255

NM_020366.4(RPGRIP1):c.1920C>T (p.Ala640=) SNV
Germline
Chr14:21324775 Conflicting classifications of pathogenicity not specified
Leber congenital amaurosis 6
Cone-rod dystrophy 13
Leber congenital amaurosis 6
Cone-rod dystrophy 13
Condition: not provided
Criteria Provided
Conflicting Classifications
CA7089121 rs_368434311

5 SubmittersRCV000246883RCV000333550RCV000388083RCV000952570RCV003401208

NM_020366.4(RPGRIP1):c.2668C>T (p.Arg890Ter) SNV
Germline
Chr14:21326131 Pathogenic Condition: not provided
Leber congenital amaurosis 6
Cone-rod dystrophy 13
Criteria Provided
Multiple Submitters
No Conflicts
CA7089317 rs_780587095

2 SubmittersRCV000298896RCV002518810

NM_020366.4(RPGRIP1):c.1753C>T (p.Pro585Ser) SNV
Germline
Chr14:21321995 Conflicting classifications of pathogenicity Condition: not provided
Cone-rod dystrophy 13
Leber congenital amaurosis 6
Leber congenital amaurosis 6
Cone-rod dystrophy 13
not specified
Retinal dystrophy
Criteria Provided
Conflicting Classifications
CA7089060 rs_147586703

11 SubmittersRCV000325954RCV000763912RCV001111169RCV001800646RCV002282101RCV004816491

NM_020366.4(RPGRIP1):c.2284C>T (p.Leu762=) SNV
Germline
Chr14:21325300 Conflicting classifications of pathogenicity not specified
Cone-rod dystrophy 13
Leber congenital amaurosis 6
Leber congenital amaurosis 6
Cone-rod dystrophy 13
Condition: not provided
RPGRIP1-related disorder
Retinal dystrophy
Criteria Provided
Conflicting Classifications
CA7089204 rs_145896974

11 SubmittersRCV000303580RCV000339400RCV000396376RCV000641902RCV001699333RCV003920089RCV004816497

NM_020366.4(RPGRIP1):c.542C>G (p.Ala181Gly) SNV
Germline
Chr14:21302539 Conflicting classifications of pathogenicity not specified
Cone-rod dystrophy 13
Leber congenital amaurosis 6
Leber congenital amaurosis 6
Cone-rod dystrophy 13
RPGRIP1-related disorder
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA7088688 rs_186266220

6 SubmittersRCV000276671RCV000322396RCV000358467RCV000959229RCV003940004RCV005268582

NM_020366.4(RPGRIP1):c.658A>G (p.Met220Val) SNV
Germline
Chr14:21303401 Conflicting classifications of pathogenicity Cone-rod dystrophy 13
Leber congenital amaurosis 6
Leber congenital amaurosis 6
Cone-rod dystrophy 13
Criteria Provided
Conflicting Classifications
CA7088724 rs_371762530

3 SubmittersRCV000329549RCV000384076RCV000983971

NM_020366.4(RPGRIP1):c.2331C>T (p.Thr777=) SNV
Germline
Chr14:21325347 Conflicting classifications of pathogenicity Cone-rod dystrophy 13
Leber congenital amaurosis 6
Leber congenital amaurosis 6
Cone-rod dystrophy 13
Criteria Provided
Conflicting Classifications
CA7089218 rs_760801598

2 SubmittersRCV000304224RCV000345062RCV005213262

NM_020366.4(RPGRIP1):c.2334T>C (p.Asp778=) SNV
Germline
Chr14:21325350 Conflicting classifications of pathogenicity Cone-rod dystrophy 13
Leber congenital amaurosis 6
Leber congenital amaurosis 6
Cone-rod dystrophy 13
Criteria Provided
Conflicting Classifications
CA7089221 rs_188318743

3 SubmittersRCV000310166RCV000398658RCV001513783

NM_020366.4(RPGRIP1):c.50T>C (p.Ile17Thr) SNV
Germline
Chr14:21288026 Conflicting classifications of pathogenicity Leber congenital amaurosis 6
Cone-rod dystrophy 13
Condition: not provided
Cone-rod dystrophy 13
Leber congenital amaurosis 6
Criteria Provided
Conflicting Classifications
CA7088532 rs_201384449

5 SubmittersRCV000285535RCV000345131RCV000416234RCV001079403

NM_020366.4(RPGRIP1):c.912C>T (p.Tyr304=) SNV
Germline
Chr14:21310589 Conflicting classifications of pathogenicity Cone-rod dystrophy 13
Leber congenital amaurosis 6
Leber congenital amaurosis 6
Cone-rod dystrophy 13
Criteria Provided
Conflicting Classifications
CA7088785 rs_568372341

2 SubmittersRCV000294353RCV000349312RCV005222889

NM_020366.4(RPGRIP1):c.1200G>A (p.Glu400=) SNV
Germline
Chr14:21317744 Conflicting classifications of pathogenicity Cone-rod dystrophy 13
Leber congenital amaurosis 6
Leber congenital amaurosis 6
Cone-rod dystrophy 13
Criteria Provided
Conflicting Classifications
CA7088904 rs_749098397

2 SubmittersRCV000301537RCV000390467RCV005213261

NM_020366.4(RPGRIP1):c.218+13C>G SNV
Germline
Chr14:21294822 Conflicting classifications of pathogenicity Cone-rod dystrophy 13
Leber congenital amaurosis 6
not specified
Leber congenital amaurosis 6
Cone-rod dystrophy 13
Condition: not provided
Criteria Provided
Conflicting Classifications
CA7088596 rs_200225522

5 SubmittersRCV000291173RCV000394793RCV000425637RCV001512676RCV003656104

NM_020366.4(RPGRIP1):c.1197C>T (p.Asn399=) SNV
Germline
Chr14:21317741 Conflicting classifications of pathogenicity Cone-rod dystrophy 13
Leber congenital amaurosis 6
Condition: not provided
Cone-rod dystrophy 13
Leber congenital amaurosis 6
Criteria Provided
Conflicting Classifications
CA7088903 rs_372186092

3 SubmittersRCV000300508RCV000355383RCV000761864RCV001088261

NM_020366.4(RPGRIP1):c.1401A>G (p.Gln467=) SNV
Germline
Chr14:21320111 Conflicting classifications of pathogenicity Cone-rod dystrophy 13
Leber congenital amaurosis 6
Leber congenital amaurosis 6
Cone-rod dystrophy 13
Criteria Provided
Conflicting Classifications
CA7088958 rs_184853466

3 SubmittersRCV000266562RCV000361207RCV001470125

NM_020366.4(RPGRIP1):c.3339+5G>A SNV
Germline
Chr14:21334710 Likely pathogenic Condition: not provided
Leber congenital amaurosis
Criteria Provided
Single Submitter
CA16042847 rs_1057518122

2 SubmittersRCV000413987RCV000515742

NM_020366.4(RPGRIP1):c.268G>A (p.Val90Ile) SNV
Germline
Chr14:21301015 Conflicting classifications of pathogenicity Condition: not provided
Leber congenital amaurosis 6
Cone-rod dystrophy 13
Cone dystrophy
Leber congenital amaurosis 6
Cone-rod dystrophy 13
Retinal dystrophy
Criteria Provided
Conflicting Classifications
CA16043847 rs_1057519200

5 SubmittersRCV000415874RCV001359271RCV001199770RCV001800663RCV001800664RCV004816650

NM_020366.4(RPGRIP1):c.930+3A>G SNV
Germline
Chr14:21310610 Conflicting classifications of pathogenicity not specified
Condition: not provided
Cone-rod dystrophy 13
Leber congenital amaurosis 6
Cone-rod dystrophy 13
Leber congenital amaurosis 6
RPGRIP1-related disorder
Criteria Provided
Conflicting Classifications
CA7088791 rs_150107283

6 SubmittersRCV000417812RCV000585329RCV001083158RCV001113068RCV001113069RCV003932581

NM_020366.4(RPGRIP1):c.1767G>T (p.Gln589His) SNV
Germline
Chr14:21324622 Conflicting classifications of pathogenicity not specified
Condition: not provided
Cone-rod dystrophy 13
Leber congenital amaurosis 6
Leber congenital amaurosis 6
Cone-rod dystrophy 13
Retinal dystrophy
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA7089091 rs_34067949

8 SubmittersRCV000434906RCV000761865RCV001082360RCV001111170RCV001111171RCV004816658RCV006659458

NM_020366.4(RPGRIP1):c.3565C>T (p.Arg1189Ter) SNV
Germline
Chr14:21345145 Pathogenic Condition: not provided
Leber congenital amaurosis 6
Leber congenital amaurosis 6
Cone-rod dystrophy 13
Cone-rod dystrophy 13
Criteria Provided
Multiple Submitters
No Conflicts
CA7089550 rs_752175052

6 SubmittersRCV000428349RCV001261193RCV001387165RCV001800668

NM_020366.4(RPGRIP1):c.2368-2A>G SNV
Germline
Chr14:21325829 Pathogenic/Likely pathogenic Condition: not provided
Leber congenital amaurosis
Cone-rod dystrophy 13
Leber congenital amaurosis 6
Criteria Provided
Multiple Submitters
No Conflicts
CA16621652 rs_1064797182

3 SubmittersRCV000487634RCV001199768RCV001800704RCV001800703

NM_020366.4(RPGRIP1):c.2398G>A (p.Glu800Lys) SNV
Germline
Chr14:21325861 Pathogenic/Likely pathogenic Abnormality of the eye
Cone-rod dystrophy 13
Leber congenital amaurosis 6
Leber congenital amaurosis
Criteria Provided
Multiple Submitters
No Conflicts
CA7089253 rs_565837539

5 SubmittersRCV000504829RCV001215982RCV002230986

NM_020366.4(RPGRIP1):c.2941C>T (p.Arg981Ter) SNV
Germline
Chr14:21328469 Pathogenic Leber congenital amaurosis
Leber congenital amaurosis 1
Leber congenital amaurosis 6
Cone-rod dystrophy 13
Leber congenital amaurosis 6
Cone-rod dystrophy 13
Criteria Provided
Multiple Submitters
No Conflicts
CA7089380 rs_780667159

7 SubmittersRCV000504726RCV000989177RCV001261192RCV001382205RCV001800715

NM_020366.4(RPGRIP1):c.3120G>A (p.Trp1040Ter) SNV
Unknown
Chr14:21330269 Likely pathogenic Leber congenital amaurosis No Assertion Criteria Provided
CA388872113 rs_1555303320

1 SubmittersRCV000504916

NM_020366.4(RPGRIP1):c.1792C>T (p.Arg598Ter) SNV
Germline
Chr14:21324647 Pathogenic/Likely pathogenic Condition: not provided
Leber congenital amaurosis 6
Cone-rod dystrophy 13
Leber congenital amaurosis 6
Leber congenital amaurosis
RPGRIP1-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
CA7089094 rs_775935766

7 SubmittersRCV000578972RCV001238568RCV001800794RCV003226328RCV003420017

NM_020366.4(RPGRIP1):c.74C>T (p.Pro25Leu) SNV
Germline
Chr14:21288050 Conflicting classifications of pathogenicity Condition: not provided
Cone-rod dystrophy 13
Leber congenital amaurosis 6
Cone-rod dystrophy 13
Leber congenital amaurosis 6
Criteria Provided
Conflicting Classifications
CA7088535 rs_199590641

3 SubmittersRCV000598475RCV001087237RCV001800820RCV001800819

NM_020366.4(RPGRIP1):c.1236G>A (p.Gln412=) SNV
Germline
Chr14:21317780 Conflicting classifications of pathogenicity Condition: not provided
Cone-rod dystrophy 13
Leber congenital amaurosis 6
Leber congenital amaurosis 6
Cone-rod dystrophy 13
Criteria Provided
Conflicting Classifications
CA7088914 rs_140904308

3 SubmittersRCV000596482RCV001088615RCV001800821RCV001800822

NM_020366.4(RPGRIP1):c.1468-2A>G SNV
Germline
Chr14:21321257 Pathogenic/Likely pathogenic Condition: not provided
Cone-rod dystrophy 13
Leber congenital amaurosis 6
Leber congenital amaurosis
Leber congenital amaurosis 6
Criteria Provided
Multiple Submitters
No Conflicts
CA7088985 rs_751342895

5 SubmittersRCV000592649RCV001854022RCV002282254RCV005235444

NM_020366.4(RPGRIP1):c.2554C>T (p.Arg852Ter) SNV
Germline
Chr14:21326017 Pathogenic/Likely pathogenic Condition: not provided
Retinal dystrophy
Leber congenital amaurosis 6
Cone-rod dystrophy 13
Cone-rod dystrophy 13
Leber congenital amaurosis 6
Criteria Provided
Multiple Submitters
No Conflicts
CA388869332 rs_1429786931

11 SubmittersRCV000597545RCV001074918RCV001261185RCV001800828RCV001389835

NM_020366.4(RPGRIP1):c.2376G>A (p.Ser792=) SNV
Germline
Chr14:21325839 Conflicting classifications of pathogenicity not specified
Leber congenital amaurosis 6
Cone-rod dystrophy 13
Cone-rod dystrophy 13
Leber congenital amaurosis 6
Criteria Provided
Conflicting Classifications
CA7089245 rs_185667326

4 SubmittersRCV000594774RCV000950561RCV001110507RCV001114547

NM_020366.4(RPGRIP1):c.2878G>C (p.Ala960Pro) SNV
Germline
Chr14:21327790 Conflicting classifications of pathogenicity Cone-rod dystrophy 13
Leber congenital amaurosis 6
Cone-rod dystrophy 13
Leber congenital amaurosis 6
Criteria Provided
Conflicting Classifications
CA7089360 rs_35810926

3 SubmittersRCV000641903RCV001114650RCV001113279

NM_020366.4(RPGRIP1):c.799C>T (p.Arg267Ter) SNV
Germline
Chr14:21303542 Pathogenic Leber congenital amaurosis 6
Leber congenital amaurosis 6
Cone-rod dystrophy 13
Criteria Provided
Single Submitter
CA7088743 rs_554396590

2 SubmittersRCV000678628RCV002532181

NM_020366.4(RPGRIP1):c.2017C>T (p.Gln673Ter) SNV
Germline
Chr14:21324872 Pathogenic Cone-rod dystrophy 13
Leber congenital amaurosis 6
Criteria Provided
Single Submitter
CA388867595 rs_1566341956

1 SubmittersRCV000701424

NM_020366.4(RPGRIP1):c.931-2A>G SNV
Germline
Chr14:21311822 Likely pathogenic Cone-rod dystrophy 13
Leber congenital amaurosis 6
Criteria Provided
Multiple Submitters
No Conflicts
CA257501222 rs_374188857

2 SubmittersRCV000701308

NM_020366.4(RPGRIP1):c.2302C>T (p.Arg768Ter) SNV
Germline
Chr14:21325318 Pathogenic Cone-rod dystrophy 13
Leber congenital amaurosis 6
Condition: not provided
Leber congenital amaurosis 6
Cone-rod dystrophy 13
RPGRIP1-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
CA7089212 rs_75459701

5 SubmittersRCV000686083RCV000760501RCV001800848RCV001800849RCV003403585

NM_020366.4(RPGRIP1):c.2440C>T (p.Arg814Ter) SNV
Germline
Chr14:21325903 Pathogenic Leber congenital amaurosis
Cone-rod dystrophy 13
Leber congenital amaurosis 6
Leber congenital amaurosis 6
Condition: not provided
Cone-rod dystrophy 13
Criteria Provided
Multiple Submitters
No Conflicts
CA7089262 rs_759940113

7 SubmittersRCV000710047RCV000762921RCV000754600RCV001724145RCV001800862

NM_020366.4(RPGRIP1):c.3617+1G>A SNV
Germline
Chr14:21345198 Pathogenic Leber congenital amaurosis 6
Cone-rod dystrophy 13
Criteria Provided
Single Submitter
CA388857614 rs_771116776

1 SubmittersRCV000714540RCV000714541

NM_020366.4(RPGRIP1):c.2662C>T (p.Arg888Ter) SNV
Germline
Chr14:21326125 Pathogenic/Likely pathogenic Condition: not provided
Leber congenital amaurosis 6
Cone-rod dystrophy 13
Leber congenital amaurosis 6
Cone-rod dystrophy 13
Criteria Provided
Multiple Submitters
No Conflicts
CA257536142 rs_1030149008

4 SubmittersRCV001091752RCV001800879RCV001800880RCV005004412

NM_020366.4(RPGRIP1):c.2435G>A (p.Arg812Gln) SNV
Germline
Chr14:21325898 Conflicting classifications of pathogenicity Condition: not provided
Cone-rod dystrophy 13
Leber congenital amaurosis 6
Cone-rod dystrophy 13
Leber congenital amaurosis 6
RPGRIP1-related disorder
Criteria Provided
Conflicting Classifications
CA7089260 rs_190490019

6 SubmittersRCV000878013RCV001089439RCV001110510RCV001110511RCV003930456

NM_020366.4(RPGRIP1):c.2550G>A (p.Gln850=) SNV
Germline
Chr14:21326013 Conflicting classifications of pathogenicity Leber congenital amaurosis 6
Cone-rod dystrophy 13
Leber congenital amaurosis 6
Cone-rod dystrophy 13
Criteria Provided
Conflicting Classifications
CA7089294 rs_200268506

3 SubmittersRCV000951483RCV001111271RCV001111272

NM_020366.4(RPGRIP1):c.3171C>T (p.His1057=) SNV
Germline
Chr14:21330320 Conflicting classifications of pathogenicity Leber congenital amaurosis 6
Cone-rod dystrophy 13
Leber congenital amaurosis 6
Cone-rod dystrophy 13
not specified
Condition: not provided
Criteria Provided
Conflicting Classifications
CA7089439 rs_201838837

6 SubmittersRCV000945648RCV001109014RCV001109015RCV001701368RCV001727824

NM_020366.4(RPGRIP1):c.1078-9C>A SNV
Germline
Chr14:21312424 Conflicting classifications of pathogenicity Leber congenital amaurosis 6
Cone-rod dystrophy 13
Leber congenital amaurosis 6
Cone-rod dystrophy 13
Criteria Provided
Conflicting Classifications
CA7088863 rs_371312060

3 SubmittersRCV000879291RCV001114452RCV001114453

NM_020366.4(RPGRIP1):c.800G>A (p.Arg267Gln) SNV
Germline
Chr14:21303543 Conflicting classifications of pathogenicity Leber congenital amaurosis 1
Leber congenital amaurosis 6
Cone-rod dystrophy 13
Criteria Provided
Conflicting Classifications
CA7088744 rs_758239674

2 SubmittersRCV000989169RCV001869358

NM_020366.4(RPGRIP1):c.800+1G>A SNV
Germline
Chr14:21303544 Pathogenic/Likely pathogenic Leber congenital amaurosis 1
Condition: not provided
Cone-rod dystrophy 13
Leber congenital amaurosis 6
Cone-rod dystrophy 13
Leber congenital amaurosis 6
Retinal dystrophy
Criteria Provided
Multiple Submitters
No Conflicts
CA7088745 rs_376500610

5 SubmittersRCV000989170RCV000995111RCV001228179RCV001800908RCV001800907RCV004818098

NM_020366.4(RPGRIP1):c.2468A>G (p.Tyr823Cys) SNV
Germline
Chr14:21325931 Conflicting classifications of pathogenicity Leber congenital amaurosis 1
Leber congenital amaurosis 6
Cone-rod dystrophy 13
Criteria Provided
Conflicting Classifications
CA257536134 rs_751521888

2 SubmittersRCV000989175RCV001869359

NM_020366.4(RPGRIP1):c.906+2T>G SNV
Germline
Chr14:21307838 Conflicting classifications of pathogenicity Condition: not provided
Cone-rod dystrophy
Cone-rod dystrophy 13
Leber congenital amaurosis 6
Criteria Provided
Conflicting Classifications
CA388861796 rs_1594180201

3 SubmittersRCV000995112RCV001199771RCV001800910RCV001800909

NM_020366.4(RPGRIP1):c.1612-3C>A SNV
Germline
Chr14:21321851 Conflicting classifications of pathogenicity Condition: not provided
Cone-rod dystrophy
Leber congenital amaurosis 6
Cone-rod dystrophy 13
Criteria Provided
Conflicting Classifications
CA915948863 rs_1594204748

3 SubmittersRCV000995113RCV001199772RCV001800911RCV001800912

NM_020366.4(RPGRIP1):c.2249A>G (p.Tyr750Cys) SNV
Germline
Chr14:21325265 Likely pathogenic Retinitis pigmentosa No Assertion Criteria Provided
CA388868454 rs_1594214013

1 SubmittersRCV001003209

NM_020366.4(RPGRIP1):c.2935C>T (p.Gln979Ter) SNV
Germline
Chr14:21328463 Pathogenic Retinitis pigmentosa
Cone-rod dystrophy 13
Leber congenital amaurosis 6
Cone-rod dystrophy 13
Retinal disorder
Criteria Provided
Multiple Submitters
No Conflicts
CA388870957 rs_1371805993

4 SubmittersRCV001003210RCV001862727RCV006705413RCV006272304

NM_020366.4(RPGRIP1):c.2432T>A (p.Leu811His) SNV
Germline
Chr14:21325895 Pathogenic Cone dystrophy Criteria Provided
Single Submitter
CA388868934 rs_1883036406

1 SubmittersRCV001199769

NM_020366.4(RPGRIP1):c.1468-263G>C SNV
Germline
Chr14:21320996 Pathogenic Leber congenital amaurosis 6 Criteria Provided
Single Submitter
CA915948862 rs_1594202505

1 SubmittersRCV001005012

NM_020366.4(RPGRIP1):c.1611+27G>A SNV
Germline
Chr14:21321429 Likely pathogenic Leber congenital amaurosis 6 Criteria Provided
Single Submitter
CA658795159 rs_1594203796

1 SubmittersRCV001005013

NM_020366.4(RPGRIP1):c.3238+1G>A SNV
Germline
Chr14:21330388 Pathogenic Leber congenital amaurosis 6 Criteria Provided
Single Submitter
CA388872386 rs_1325103400

1 SubmittersRCV001005014

NM_020366.4(RPGRIP1):c.1892A>G (p.His631Arg) SNV
Germline
Chr14:21324747 Pathogenic/Likely pathogenic Cone-rod dystrophy 13
Leber congenital amaurosis 6
Retinal dystrophy
Leber congenital amaurosis 6
Cone-rod dystrophy 13
Criteria Provided
Multiple Submitters
No Conflicts
CA7089115 rs_535922252

4 SubmittersRCV001034879RCV001074229RCV001800938RCV001800939

NM_020366.4(RPGRIP1):c.2367+1G>A SNV
Germline
Chr14:21325384 Pathogenic Cone-rod dystrophy 13
Leber congenital amaurosis 6
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA388868708 rs_1882968821

2 SubmittersRCV001054263RCV004726837

NM_020366.4(RPGRIP1):c.2230G>T (p.Glu744Ter) SNV
Germline
Chr14:21325246 Likely pathogenic Retinal dystrophy Criteria Provided
Single Submitter
CA388868413 rs_1882945917

1 SubmittersRCV001073673

NM_020366.4(RPGRIP1):c.2406G>A (p.Trp802Ter) SNV
Germline
Chr14:21325869 Likely pathogenic Retinal dystrophy Criteria Provided
Single Submitter
CA388868802 rs_1883031542

1 SubmittersRCV001074723

NM_020366.4(RPGRIP1):c.846C>T (p.Leu282=) SNV
Germline
Chr14:21307776 Conflicting classifications of pathogenicity Leber congenital amaurosis 6
Cone-rod dystrophy 13
Leber congenital amaurosis 6
Cone-rod dystrophy 13
Criteria Provided
Conflicting Classifications
CA7088767 rs_201186199

2 SubmittersRCV001111080RCV001111079RCV002069792

NM_020366.4(RPGRIP1):c.1506C>A (p.Ser502=) SNV
Germline
Chr14:21321297 Conflicting classifications of pathogenicity Leber congenital amaurosis 6
Cone-rod dystrophy 13
Leber congenital amaurosis 6
Cone-rod dystrophy 13
Criteria Provided
Conflicting Classifications
CA484993639 rs_777877901

2 SubmittersRCV001110421RCV001110422RCV005225234

NM_020366.4(RPGRIP1):c.3571C>T (p.Arg1191Trp) SNV
Germline
Chr14:21345151 Conflicting classifications of pathogenicity Leber congenital amaurosis 6
Cone-rod dystrophy 13
Cone-rod dystrophy 13
Leber congenital amaurosis 6
Inborn genetic diseases
Thyroid cancer, nonmedullary, 1
Criteria Provided
Conflicting Classifications
CA7089555 rs_188660364

5 SubmittersRCV001113378RCV001113379RCV001488401RCV005268912RCV005913730

NM_020366.4(RPGRIP1):c.2710+11G>A SNV
Germline
Chr14:21326184 Conflicting classifications of pathogenicity Cone-rod dystrophy 13
Leber congenital amaurosis 6
Cone-rod dystrophy 13
Leber congenital amaurosis 6
Criteria Provided
Conflicting Classifications
CA7089322 rs_368181053

2 SubmittersRCV001113277RCV001113278RCV002069828

NM_020366.4(RPGRIP1):c.3239-14C>T SNV
Germline
Chr14:21334591 Conflicting classifications of pathogenicity Cone-rod dystrophy 13
Leber congenital amaurosis 6
Leber congenital amaurosis 6
Cone-rod dystrophy 13
Criteria Provided
Conflicting Classifications
CA7089465 rs_542859849

3 SubmittersRCV001109018RCV001111365RCV001523738

NM_020366.4(RPGRIP1):c.1219C>T (p.Gln407Ter) SNV
Germline
Chr14:21317763 Pathogenic Cone-rod dystrophy 13
Leber congenital amaurosis 6
Criteria Provided
Single Submitter
CA7088909 rs_775425686

1 SubmittersRCV001236080

NM_020366.4(RPGRIP1):c.2614A>G (p.Ile872Val) SNV
Germline
Chr14:21326077 Conflicting classifications of pathogenicity Leber congenital amaurosis 6
Cone-rod dystrophy 13
Retinal dystrophy
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA7089301 rs_747355604

3 SubmittersRCV001232092RCV004813935RCV005470679

NM_020366.4(RPGRIP1):c.219-2A>G SNV
Germline
Chr14:21300964 Likely pathogenic Cone-rod dystrophy 13
Leber congenital amaurosis 6
Criteria Provided
Single Submitter
CA388858386 rs_1880999471

1 SubmittersRCV001236081

NM_020366.4(RPGRIP1):c.1467+1G>A SNV
Germline
Chr14:21320178 Pathogenic/Likely pathogenic Leber congenital amaurosis 6
Cone-rod dystrophy 13
Cone-rod dystrophy 13
Criteria Provided
Multiple Submitters
No Conflicts
CA388864929 rs_1167313603

2 SubmittersRCV001238536RCV006709038

NM_020366.4(RPGRIP1):c.2711-2A>G SNV
Germline
Chr14:21327621 Pathogenic Cone-rod dystrophy 13
Leber congenital amaurosis 6
Criteria Provided
Single Submitter
CA7089334 rs_766443371

1 SubmittersRCV001238537

NM_020366.4(RPGRIP1):c.2710+1G>A SNV
Germline
Chr14:21326174 Likely pathogenic Leber congenital amaurosis 6
Cone-rod dystrophy 13
Leber congenital amaurosis 6
Criteria Provided
Single Submitter
CA388869654 rs_1883084009

2 SubmittersRCV001261176RCV006557279

NM_020366.4(RPGRIP1):c.2895+1G>A SNV
Germline
Chr14:21327808 Pathogenic Leber congenital amaurosis 6 No Assertion Criteria Provided
CA388870854 rs_748072501

1 SubmittersRCV001261175

NM_020366.4(RPGRIP1):c.2895+1G>T SNV
Germline
Chr14:21327808 Pathogenic Leber congenital amaurosis 6
Cone-rod dystrophy 13
Leber congenital amaurosis 6
Leber congenital amaurosis
Criteria Provided
Multiple Submitters
No Conflicts
CA7089364 rs_748072501

4 SubmittersRCV001261174RCV001880011RCV003324559

NM_020366.4(RPGRIP1):c.521C>G (p.Pro174Arg) SNV
Germline
Chr14:21302518 Likely pathogenic Leber congenital amaurosis 6 No Assertion Criteria Provided
CA388860027 rs_780733881

1 SubmittersRCV001261171

NM_020366.4(RPGRIP1):c.1447C>T (p.Gln483Ter) SNV
Germline
Chr14:21320157 Pathogenic Leber congenital amaurosis 6
Cone-rod dystrophy 13
Leber congenital amaurosis 6
Criteria Provided
Single Submitter
CA7088968 rs_368781265

2 SubmittersRCV001261179RCV001389834

NM_020366.4(RPGRIP1):c.1687C>T (p.Arg563Ter) SNV
Germline
Chr14:21321929 Pathogenic Leber congenital amaurosis 6
Cone-rod dystrophy 13
Leber congenital amaurosis 6
Criteria Provided
Single Submitter
CA257535773 rs_776963292

2 SubmittersRCV001261181RCV002537617

NM_020366.4(RPGRIP1):c.2086G>T (p.Glu696Ter) SNV
Germline
Chr14:21324941 Pathogenic Leber congenital amaurosis 6 No Assertion Criteria Provided
CA388867886 rs_1882904268

1 SubmittersRCV001261182

NM_020366.4(RPGRIP1):c.3679G>A (p.Gly1227Arg) SNV
Germline
Chr14:21348233 Likely pathogenic Leber congenital amaurosis 6 No Assertion Criteria Provided
CA388858083 rs_1885763952

1 SubmittersRCV001261190

NM_020366.4(RPGRIP1):c.772G>T (p.Glu258Ter) SNV
Germline
Chr14:21303515 Likely pathogenic Leber congenital amaurosis 6 Criteria Provided
Single Submitter
CA388860881 rs_2139160690

1 SubmittersRCV001376537

NM_020366.4(RPGRIP1):c.313C>T (p.Gln105Ter) SNV
Germline
Chr14:21301060 Pathogenic Cone-rod dystrophy 13
Leber congenital amaurosis 6
Criteria Provided
Single Submitter
CA388858721 rs_2139156519

1 SubmittersRCV001388371

NM_020366.4(RPGRIP1):c.2725A>G (p.Thr909Ala) SNV
Germline
Chr14:21327637 Conflicting classifications of pathogenicity Cone-rod dystrophy 13
Leber congenital amaurosis 6
not specified
Criteria Provided
Conflicting Classifications
CA7089338 rs_759254680

3 SubmittersRCV001394898RCV001581116

NM_020366.4(RPGRIP1):c.2644C>T (p.Pro882Ser) SNV
Germline
Chr14:21326107 Conflicting classifications of pathogenicity Cone-rod dystrophy 13
Leber congenital amaurosis 6
Condition: not provided
Leber congenital amaurosis 6
Cone-rod dystrophy 13
Criteria Provided
Conflicting Classifications
CA7089309 rs_200657688

3 SubmittersRCV001473685RCV001751769RCV001800997RCV001800998

NM_020366.4(RPGRIP1):c.3448G>T (p.Asp1150Tyr) SNV
Germline
Chr14:21343144 Conflicting classifications of pathogenicity Cone-rod dystrophy 13
Leber congenital amaurosis 6
Leber congenital amaurosis 6
Condition: not provided
Cone-rod dystrophy 13
Criteria Provided
Conflicting Classifications
CA7089516 rs_144704092

3 SubmittersRCV001491398RCV001801001RCV001773756RCV001801002

NM_020366.4(RPGRIP1):c.1948C>T (p.Pro650Ser) SNV
Germline
Chr14:21324803 Likely pathogenic Condition: not provided
Retinal dystrophy
Criteria Provided
Single Submitter
CA388867339 rs_1740380459

3 SubmittersRCV001699937RCV004815592

NM_020366.4(RPGRIP1):c.2020C>T (p.Pro674Ser) SNV
Germline
Chr14:21324875 Conflicting classifications of pathogenicity Retinitis pigmentosa
not specified
Criteria Provided
Conflicting Classifications
CA388867610 rs_1328030621

2 SubmittersRCV001724826RCV006269458

NM_020366.4(RPGRIP1):c.3617+1G>T SNV
Germline
Chr14:21345198 Pathogenic Cone-rod dystrophy 13
Leber congenital amaurosis 6
Lung cancer
Criteria Provided
Single Submitter
CA7089566 rs_771116776

2 SubmittersRCV001931715RCV005924269

NM_020366.4(RPGRIP1):c.29G>A (p.Gly10Glu) SNV
Germline
Chr14:21288005 Conflicting classifications of pathogenicity Cone-rod dystrophy 13
Leber congenital amaurosis 6
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA7088529 rs_756665749

2 SubmittersRCV001928593RCV002556386

NM_020366.4(RPGRIP1):c.1995T>A (p.Cys665Ter) SNV
Germline
Chr14:21324850 Pathogenic Cone-rod dystrophy 13
Leber congenital amaurosis 6
Criteria Provided
Single Submitter
CA388867509 rs_1225223445

1 SubmittersRCV001999910

NM_020366.4(RPGRIP1):c.2099G>A (p.Arg700Gln) SNV
Germline
Chr14:21324954 Conflicting classifications of pathogenicity Leber congenital amaurosis 6
Cone-rod dystrophy 13
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA7089154 rs_768190736

2 SubmittersRCV002040641RCV004656838

NM_020366.4(RPGRIP1):c.3037G>A (p.Val1013Ile) SNV
Germline
Chr14:21328565 Conflicting classifications of pathogenicity Leber congenital amaurosis 6
Cone-rod dystrophy 13
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA388871914 rs_1289388105

2 SubmittersRCV001935425RCV005722573

NM_020366.4(RPGRIP1):c.3610C>T (p.Gln1204Ter) SNV
Germline
Chr14:21345190 Pathogenic Cone-rod dystrophy 13
Leber congenital amaurosis 6
Criteria Provided
Single Submitter
CA388857597 rs_2139350315

1 SubmittersRCV002037770

NM_020366.4(RPGRIP1):c.218+1G>T SNV
Germline
Chr14:21294810 Likely pathogenic Leber congenital amaurosis 6
Cone-rod dystrophy 13
Criteria Provided
Single Submitter
CA7088593 rs_546692544

1 SubmittersRCV002018117

NM_020366.4(RPGRIP1):c.767C>G (p.Ser256Ter) SNV
Germline
Chr14:21303510 Pathogenic Cone-rod dystrophy 13
Leber congenital amaurosis 6
Criteria Provided
Single Submitter
CA388860861 rs_2139160679

1 SubmittersRCV001963002

NM_020366.4(RPGRIP1):c.1930C>T (p.Gln644Ter) SNV
Germline
Chr14:21324785 Pathogenic Cone-rod dystrophy 13
Leber congenital amaurosis 6
Criteria Provided
Single Submitter
CA388867301 rs_2139227650

1 SubmittersRCV001958667

NM_020366.4(RPGRIP1):c.1111C>T (p.Arg371Ter) SNV
Germline
Chr14:21312466 Pathogenic Cone-rod dystrophy 13
Leber congenital amaurosis 6
Cone-rod dystrophy 13
Criteria Provided
Multiple Submitters
No Conflicts
CA7088872 rs_375859404

3 SubmittersRCV001871080RCV004774498

NM_020366.4(RPGRIP1):c.1867C>T (p.Gln623Ter) SNV
Germline
Chr14:21324722 Pathogenic Leber congenital amaurosis 6
Cone-rod dystrophy 13
Criteria Provided
Single Submitter
CA388867065 rs_772090790

1 SubmittersRCV001875567

NM_020366.4(RPGRIP1):c.2216-1G>A SNV
Germline
Chr14:21325231 Likely pathogenic Cone-rod dystrophy 13
Leber congenital amaurosis 6
Criteria Provided
Single Submitter
CA257536084 rs_970696880

1 SubmittersRCV002048259

NM_020366.4(RPGRIP1):c.86-1G>A SNV
Germline
Chr14:21294676 Likely pathogenic Cone-rod dystrophy 13
Leber congenital amaurosis 6
Criteria Provided
Single Submitter
CA7088562 rs_200968268

1 SubmittersRCV001975616

NM_020366.4(RPGRIP1):c.1145T>A (p.Leu382Ter) SNV
Germline
Chr14:21312500 Pathogenic Cone-rod dystrophy 13
Leber congenital amaurosis 6
Criteria Provided
Single Submitter
CA388862928 rs_2139176356

1 SubmittersRCV001922256

NM_020366.4(RPGRIP1):c.1151+1G>A SNV
Germline
Chr14:21312507 Pathogenic Leber congenital amaurosis 6 Criteria Provided
Single Submitter
CA7088881 rs_751096098

2 SubmittersRCV002250894

NM_020366.4(RPGRIP1):c.1763-2A>G SNV
Germline
Chr14:21324616 Likely pathogenic Leber congenital amaurosis 6
Cone-rod dystrophy 13
Criteria Provided
Single Submitter
CA7089090 rs_771106795

1 SubmittersRCV003062612

NM_020366.4(RPGRIP1):c.442A>T (p.Arg148Ter) SNV
Germline
Chr14:21301189 Pathogenic Cone-rod dystrophy 13
Leber congenital amaurosis 6
Criteria Provided
Single Submitter
CA388859273 rs_1324633537

1 SubmittersRCV002635361

NM_020366.4(RPGRIP1):c.3463G>T (p.Glu1155Ter) SNV
Germline
Chr14:21343159 Pathogenic Leber congenital amaurosis 6
Cone-rod dystrophy 13
Criteria Provided
Single Submitter
CA388857168 rs_2502950630

1 SubmittersRCV002867673

NM_020366.4(RPGRIP1):c.2332G>A (p.Asp778Asn) SNV
Germline
Chr14:21325348 Conflicting classifications of pathogenicity Cone-rod dystrophy 13
Leber congenital amaurosis 6
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA7089219 rs_768913743

2 SubmittersRCV003011529RCV004068463

NM_020366.4(RPGRIP1):c.1954A>G (p.Thr652Ala) SNV
Germline
Chr14:21324809 Pathogenic Cone-rod dystrophy 13
Leber congenital amaurosis 6
Criteria Provided
Single Submitter
CA388867351 rs_2502811610

1 SubmittersRCV003027434

NM_020366.4(RPGRIP1):c.3620T>G (p.Leu1207Ter) SNV
Germline
Chr14:21348174 Likely pathogenic Leber congenital amaurosis Criteria Provided
Single Submitter
CA388857945 rs_2502980632

1 SubmittersRCV003123514

NM_020366.4(RPGRIP1):c.1078-1G>A SNV
Germline
Chr14:21312432 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
CA7088865 rs_773592041

1 SubmittersRCV003318894

NM_020366.4(RPGRIP1):c.2895+2T>C SNV
Germline
Chr14:21327809 Pathogenic Condition: not provided Criteria Provided
Single Submitter
CA388870857 rs_2502841290

1 SubmittersRCV003325716

NM_020366.4(RPGRIP1):c.218+2T>A SNV
Germline
Chr14:21294811 Pathogenic Condition: not provided Criteria Provided
Single Submitter
CA388857932 rs_2502690439

1 SubmittersRCV003334159

NM_020366.4(RPGRIP1):c.1621G>T (p.Glu541Ter) SNV
Germline
Chr14:21321863 Pathogenic Condition: not provided Criteria Provided
Single Submitter
CA388865616 rs_2502788956

1 SubmittersRCV003334160

NM_020366.4(RPGRIP1):c.2236G>A (p.Gly746Arg) SNV
Germline
Chr14:21325252 Pathogenic/Likely pathogenic Leber congenital amaurosis 6
Cone-rod dystrophy 13
Leber congenital amaurosis 6
Criteria Provided
Multiple Submitters
No Conflicts
CA7089200 rs_535695411

3 SubmittersRCV003788383RCV004759292

NM_020366.4(RPGRIP1):c.3533-2A>G SNV
Germline
Chr14:21345111 Likely pathogenic Cone-rod dystrophy 13
Leber congenital amaurosis 6
Criteria Provided
Single Submitter
CA388857430 rs_1416794391

1 SubmittersRCV003790886

NM_020366.4(RPGRIP1):c.3100-1G>A SNV
Germline
Chr14:21330248 Likely pathogenic Cone-rod dystrophy 13
Leber congenital amaurosis 6
Retinal dystrophy
Criteria Provided
Single Submitter
CA257536560 rs_371900300

2 SubmittersRCV003791448RCV004818414

NM_020366.4(RPGRIP1):c.1309C>T (p.Gln437Ter) SNV
Germline
Chr14:21320019 Pathogenic Leber congenital amaurosis 6
Cone-rod dystrophy 13
Criteria Provided
Single Submitter
CA388864578 rs_1279095388

1 SubmittersRCV003807396

NM_020366.4(RPGRIP1):c.2021C>A (p.Pro674His) SNV
Germline
Chr14:21324876 Likely pathogenic Retinal dystrophy
Cone-rod dystrophy 13
Leber congenital amaurosis 6
Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV004817289RCV005220957

NM_020366.4(RPGRIP1):c.349C>T (p.Gln117Ter) SNV
Germline
Chr14:21301096 Likely pathogenic Cone-rod dystrophy 13 Criteria Provided
Single Submitter

1 SubmittersRCV004720678

NM_020366.4(RPGRIP1):c.326G>A (p.Trp109Ter) SNV
Germline
Chr14:21301073 Likely pathogenic Leber congenital amaurosis 6
Cone-rod dystrophy 13
Criteria Provided
Single Submitter

1 SubmittersRCV005007128

NM_020366.4(RPGRIP1):c.358C>T (p.Gln120Ter) SNV
Germline
Chr14:21301105 Pathogenic Leber congenital amaurosis 6
Cone-rod dystrophy 13
Criteria Provided
Single Submitter

1 SubmittersRCV005007129

NM_020366.4(RPGRIP1):c.1468-128T>G SNV
Germline
Chr14:21321131 Pathogenic Leber congenital amaurosis 6
Cone-rod dystrophy 13
Criteria Provided
Single Submitter

1 SubmittersRCV005007131

NM_020366.4(RPGRIP1):c.1612-2A>G SNV
Germline
Chr14:21321852 Likely pathogenic Leber congenital amaurosis 6
Cone-rod dystrophy 13
Criteria Provided
Single Submitter

1 SubmittersRCV005007133

NM_020366.4(RPGRIP1):c.2215+2T>C SNV
Germline
Chr14:21325072 Likely pathogenic Leber congenital amaurosis 6
Cone-rod dystrophy 13
Criteria Provided
Single Submitter

1 SubmittersRCV005211602

NM_020366.4(RPGRIP1):c.1060C>T (p.Gln354Ter) SNV
Germline
Chr14:21311953 Pathogenic Cone-rod dystrophy 13
Leber congenital amaurosis 6
Leber congenital amaurosis 6
Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005217311RCV006262027

NM_020366.4(RPGRIP1):c.817A>T (p.Lys273Ter) SNV
Germline
Chr14:21307747 Likely pathogenic Leber congenital amaurosis 6 Criteria Provided
Single Submitter

1 SubmittersRCV005235874

NM_020366.4(RPGRIP1):c.930+2T>C SNV
Germline
Chr14:21310609 Likely pathogenic Cone-rod dystrophy 13 Criteria Provided
Single Submitter

1 SubmittersRCV005646042

NM_020366.4(RPGRIP1):c.2367+82A>G SNV
Germline
Chr14:21325465 Likely pathogenic Ovarian serous cystadenocarcinoma
Leber congenital amaurosis
Criteria Provided
Single Submitter

2 SubmittersRCV006082977RCV006451995

NM_020366.4(RPGRIP1):c.3748+1G>T SNV
Germline
Chr14:21348303 Pathogenic Leber congenital amaurosis 6 Criteria Provided
Single Submitter

1 SubmittersRCV006272054

NM_020366.4(RPGRIP1):c.1762+1G>T SNV
Germline
Chr14:21322005 Likely pathogenic Cone-rod dystrophy 13
Leber congenital amaurosis 6
Criteria Provided
Single Submitter

1 SubmittersRCV006595618

NM_020366.4(RPGRIP1):c.3111C>G (p.Tyr1037Ter) SNV
Germline
Chr14:21330260 Pathogenic Leber congenital amaurosis 6
Cone-rod dystrophy 13
Criteria Provided
Single Submitter

1 SubmittersRCV006591679