A total 71 pathogenic variants reported in gene retinaldehyde binding protein 1 (RLBP1)  
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_000326.5(RLBP1):c.452G>A (p.Arg151Gln) SNV
Germline
Chr15:89215133 Pathogenic/Likely pathogenic Pigmentary retinal dystrophy
Retinitis punctata albescens
Autosomal recessive retinitis pigmentosa
Condition: not provided
Retinitis pigmentosa
Newfoundland cone-rod dystrophy
Pigmentary retinal dystrophy
Bothnia retinal dystrophy
Bothnia retinal dystrophy
Criteria Provided
Multiple Submitters
No Conflicts
CA122838 rs_137853290

7 SubmittersRCV000013973RCV000013974RCV001257814RCV001857347RCV001731283RCV005003355RCV005229784

NM_000326.5(RLBP1):c.141G>A (p.Lys47=) SNV
Germline
Chr15:89218565 Pathogenic Retinitis punctata albescens
Newfoundland cone-rod dystrophy
Condition: not provided
Retinitis pigmentosa
Criteria Provided
Multiple Submitters
No Conflicts
CA7722387 rs_766278489

3 SubmittersRCV000013977RCV000013976RCV002513030RCV005406741

NM_000326.5(RLBP1):c.700C>T (p.Arg234Trp) SNV
Germline
Chr15:89210794 Pathogenic/Likely pathogenic Bothnia retinal dystrophy
Retinitis punctata albescens
RLBP1-related disorder
Condition: not provided
Retinitis pigmentosa
Retinal dystrophy
Criteria Provided
Multiple Submitters
No Conflicts
CA122839 rs_28933990

7 SubmittersRCV000013978RCV000013979RCV000345884RCV001387783RCV001003174RCV003887865

NM_000326.5(RLBP1):c.677T>A (p.Met226Lys) SNV
Germline
Chr15:89211750 Pathogenic/Likely pathogenic Retinitis punctata albescens
Retinitis pigmentosa
RLBP1-related disorder
Condition: not provided
Retinal dystrophy
Bothnia retinal dystrophy
Retinitis punctata albescens
Bothnia retinal dystrophy
Newfoundland cone-rod dystrophy
Pigmentary retinal dystrophy
Criteria Provided
Multiple Submitters
No Conflicts
CA122840 rs_137853291

9 SubmittersRCV000013980RCV000504975RCV000394737RCV001387784RCV001073560RCV005364877RCV005003356

NM_000326.5(RLBP1):c.303C>T (p.Arg101=) SNV
Germline
Chr15:89217163 Conflicting classifications of pathogenicity Condition: not provided
Pigmentary retinal dystrophy
Retinitis pigmentosa
Newfoundland cone-rod dystrophy
Retinal dystrophy
Criteria Provided
Conflicting Classifications
CA220669 rs_144254383

5 SubmittersRCV000078643RCV000292834RCV000350084RCV000398047RCV004815001

NM_000326.5(RLBP1):c.773T>G (p.Leu258Trp) SNV
Germline
Chr15:89210721 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
CA235941 rs_786205494

1 SubmittersRCV000171241

NM_000326.5(RLBP1):c.29T>A (p.Met10Lys) SNV
Germline
Chr15:89218677 Conflicting classifications of pathogenicity not specified
Pigmentary retinal dystrophy
Newfoundland cone-rod dystrophy
Retinitis pigmentosa
Condition: not provided
Criteria Provided
Conflicting Classifications
CA202707 rs_77384282

3 SubmittersRCV000178076RCV000280535RCV000329645RCV000386660RCV000896034

NM_000326.5(RLBP1):c.545T>G (p.Phe182Cys) SNV
Germline
Chr15:89211882 Conflicting classifications of pathogenicity Retinitis pigmentosa
Condition: not provided
Newfoundland cone-rod dystrophy
Pigmentary retinal dystrophy
not specified
Retinal dystrophy
RLBP1-related disorder
Criteria Provided
Conflicting Classifications
CA7722243 rs_142244640

6 SubmittersRCV000300142RCV000343652RCV000357376RCV000399933RCV002222466RCV004816478RCV004732815

NM_000326.5(RLBP1):c.*356G>A SNV
Germline
Chr15:89209929 Conflicting classifications of pathogenicity Retinitis pigmentosa
Newfoundland cone-rod dystrophy
Pigmentary retinal dystrophy
Criteria Provided
Conflicting Classifications
CA10636608 rs_190236976

1 SubmittersRCV000271341RCV000301674RCV000365778

NM_000326.5(RLBP1):c.924C>G (p.Pro308=) SNV
Germline
Chr15:89210315 Conflicting classifications of pathogenicity Newfoundland cone-rod dystrophy
Pigmentary retinal dystrophy
Retinitis pigmentosa
not specified
Condition: not provided
Criteria Provided
Conflicting Classifications
CA7722142 rs_144615495

5 SubmittersRCV000365727RCV000307440RCV000401519RCV005434818RCV000898905

NM_000326.5(RLBP1):c.795+15C>T SNV
Germline
Chr15:89210684 Conflicting classifications of pathogenicity Newfoundland cone-rod dystrophy
Pigmentary retinal dystrophy
not specified
Condition: not provided
Retinitis pigmentosa
Criteria Provided
Conflicting Classifications
CA7722190 rs_181863443

4 SubmittersRCV000284563RCV000346536RCV001000612RCV001509871RCV000394745

NM_000326.5(RLBP1):c.191G>A (p.Arg64Gln) SNV
Germline
Chr15:89217275 Conflicting classifications of pathogenicity Newfoundland cone-rod dystrophy
Retinitis pigmentosa
Pigmentary retinal dystrophy
Condition: not provided
Retinal dystrophy
Criteria Provided
Conflicting Classifications
CA7722362 rs_201865787

3 SubmittersRCV000265453RCV000305613RCV000358016RCV000905009RCV003888737

NM_000326.5(RLBP1):c.807C>T (p.His269=) SNV
Germline
Chr15:89210432 Conflicting classifications of pathogenicity Retinitis pigmentosa
Newfoundland cone-rod dystrophy
Pigmentary retinal dystrophy
Condition: not provided
Criteria Provided
Conflicting Classifications
CA7722166 rs_62640017

2 SubmittersRCV000277113RCV000329872RCV000368076RCV000906619

NM_000326.5(RLBP1):c.228G>A (p.Ser76=) SNV
Germline
Chr15:89217238 Conflicting classifications of pathogenicity Pigmentary retinal dystrophy
Retinitis pigmentosa
Newfoundland cone-rod dystrophy
Condition: not provided
Criteria Provided
Conflicting Classifications
CA7722351 rs_202116993

2 SubmittersRCV000301015RCV000335975RCV000398049RCV001458043

NM_000326.5(RLBP1):c.796-7C>G SNV
Germline
Chr15:89210450 Conflicting classifications of pathogenicity Pigmentary retinal dystrophy
Newfoundland cone-rod dystrophy
Retinitis pigmentosa
Condition: not provided
Criteria Provided
Conflicting Classifications
CA7722171 rs_74029958

2 SubmittersRCV000286075RCV000324799RCV000377048RCV000965306

NM_000326.5(RLBP1):c.306A>C (p.Ala102=) SNV
Germline
Chr15:89217160 Conflicting classifications of pathogenicity Newfoundland cone-rod dystrophy
Pigmentary retinal dystrophy
Retinitis pigmentosa
Condition: not provided
Retinal dystrophy
not specified
Criteria Provided
Conflicting Classifications
CA7722327 rs_143817941

6 SubmittersRCV000290055RCV000328618RCV000381007RCV000906178RCV003888736RCV001726111

NM_000326.5(RLBP1):c.141+6G>A SNV
Germline
Chr15:89218559 Conflicting classifications of pathogenicity Newfoundland cone-rod dystrophy
Retinitis pigmentosa
Pigmentary retinal dystrophy
Condition: not provided
not specified
Criteria Provided
Conflicting Classifications
CA7722385 rs_181321141

6 SubmittersRCV000269106RCV000308882RCV000365930RCV000728603RCV001699363

NM_000326.5(RLBP1):c.875C>T (p.Thr292Met) SNV
Germline
Chr15:89210364 Conflicting classifications of pathogenicity Retinitis Pigmentosa, Recessive
Condition: not provided
Retinal dystrophy
Criteria Provided
Conflicting Classifications
CA7722155 rs_201588178

3 SubmittersRCV000369084RCV001203836RCV003888735

NM_000326.5(RLBP1):c.796-6C>T SNV
Germline
Chr15:89210449 Conflicting classifications of pathogenicity Retinitis pigmentosa
Newfoundland cone-rod dystrophy
Pigmentary retinal dystrophy
Condition: not provided
RLBP1-related disorder
Criteria Provided
Conflicting Classifications
CA7722170 rs_201866933

3 SubmittersRCV000261796RCV000316533RCV000373444RCV000904552RCV004537790

NM_000326.5(RLBP1):c.25C>T (p.Arg9Cys) SNV
Germline
Chr15:89218681 Conflicting classifications of pathogenicity Condition: not provided
Newfoundland cone-rod dystrophy
Retinitis pigmentosa
Newfoundland cone-rod dystrophy
Bothnia retinal dystrophy
Pigmentary retinal dystrophy
Criteria Provided
Conflicting Classifications
CA7722406 rs_775252439

5 SubmittersRCV000596579RCV002250668RCV002282255RCV005004260

NM_000326.5(RLBP1):c.141+2T>C SNV
Germline
Chr15:89218563 Pathogenic/Likely pathogenic Condition: not provided
RLBP1-related disorder
Newfoundland cone-rod dystrophy
Newfoundland cone-rod dystrophy
Bothnia retinal dystrophy
Pigmentary retinal dystrophy
Criteria Provided
Multiple Submitters
No Conflicts
CA7722386 rs_760650165

6 SubmittersRCV000598659RCV000779175RCV001800829RCV005004266

NM_000326.5(RLBP1):c.346G>C (p.Gly116Arg) SNV
Germline
Chr15:89217120 Pathogenic Retinitis pigmentosa
Condition: not provided
Criteria Provided
Single Submitter
CA7722320 rs_762326108

2 SubmittersRCV000787877RCV005092358

NM_000326.5(RLBP1):c.9A>C (p.Glu3Asp) SNV
Germline
Chr15:89218967 Conflicting classifications of pathogenicity Condition: not provided
not specified
RLBP1-related disorder
Criteria Provided
Conflicting Classifications
CA7722426 rs_146844731

4 SubmittersRCV000902680RCV001000383RCV004531034

NM_000326.5(RLBP1):c.602T>C (p.Ile201Thr) SNV
Germline
Chr15:89211825 Conflicting classifications of pathogenicity Pigmentary retinal dystrophy
Condition: not provided
Pigmentary retinal dystrophy
Bothnia retinal dystrophy
Newfoundland cone-rod dystrophy
Retinal dystrophy
Criteria Provided
Conflicting Classifications
CA7722237 rs_138965708

4 SubmittersRCV001003175RCV001368707RCV002481805RCV003890161

NM_000326.5(RLBP1):c.753C>A (p.Tyr251Ter) SNV
Germline
Chr15:89210741 Pathogenic/Likely pathogenic Condition: not provided
Pigmentary retinal dystrophy
Retinitis pigmentosa
Criteria Provided
Multiple Submitters
No Conflicts
CA7722197 rs_151141842

4 SubmittersRCV001318325RCV001029758RCV001844262

NM_000326.5(RLBP1):c.333T>G (p.Tyr111Ter) SNV
Germline
Chr15:89217133 Pathogenic Retinal dystrophy
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA7722324 rs_766675673

2 SubmittersRCV001075338RCV001387786

NM_000326.5(RLBP1):c.190C>T (p.Arg64Ter) SNV
Germline
Chr15:89217276 Pathogenic/Likely pathogenic Retinal dystrophy
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA393731059 rs_561618945

2 SubmittersRCV001073561RCV001226268

NM_000326.5(RLBP1):c.*217A>C SNV
Germline
Chr15:89210068 Conflicting classifications of pathogenicity Retinitis pigmentosa
Pigmentary retinal dystrophy
Newfoundland cone-rod dystrophy
Criteria Provided
Conflicting Classifications
CA274531485 rs_150636501

1 SubmittersRCV001120116RCV001120115RCV001120117

NM_000326.5(RLBP1):c.924C>A (p.Pro308=) SNV
Germline
Chr15:89210315 Conflicting classifications of pathogenicity Retinitis pigmentosa
Newfoundland cone-rod dystrophy
Condition: not provided
Pigmentary retinal dystrophy
Criteria Provided
Conflicting Classifications
CA492073639 rs_144615495

2 SubmittersRCV001115518RCV001115517RCV001497408RCV001116936

NM_000326.5(RLBP1):c.105C>T (p.Gly35=) SNV
Germline
Chr15:89218601 Conflicting classifications of pathogenicity Pigmentary retinal dystrophy
Newfoundland cone-rod dystrophy
Retinitis pigmentosa
Condition: not provided
Criteria Provided
Conflicting Classifications
CA7722395 rs_373881009

2 SubmittersRCV001117122RCV001117121RCV001117123RCV001514876

NM_000326.5(RLBP1):c.525+14C>T SNV
Germline
Chr15:89215046 Conflicting classifications of pathogenicity Newfoundland cone-rod dystrophy
Retinitis pigmentosa
Pigmentary retinal dystrophy
Condition: not provided
Criteria Provided
Conflicting Classifications
CA716901417 rs_1173705310

2 SubmittersRCV001117039RCV001117038RCV001117037RCV003769155

NM_000326.5(RLBP1):c.446C>T (p.Ser149Phe) SNV
Germline
Chr15:89215139 Pathogenic Autosomal recessive retinitis pigmentosa No Assertion Criteria Provided
CA393729865 rs_2051568988

1 SubmittersRCV001257812

NM_000326.5(RLBP1):c.215C>T (p.Ala72Val) SNV
Germline
Chr15:89217251 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA7722356 rs_772539351

2 SubmittersRCV001364448RCV005271208

NM_000326.5(RLBP1):c.466C>T (p.Arg156Ter) SNV
Germline
Chr15:89215119 Pathogenic Condition: not provided
Bothnia retinal dystrophy
Newfoundland cone-rod dystrophy
Pigmentary retinal dystrophy
Criteria Provided
Multiple Submitters
No Conflicts
CA7722278 rs_776260543

2 SubmittersRCV001387785RCV005005238

NM_000326.5(RLBP1):c.13-1G>C SNV
Germline
Chr15:89218694 Pathogenic/Likely pathogenic Retinitis pigmentosa
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA7722409 rs_763694069

2 SubmittersRCV005406280RCV002034011

NM_000326.5(RLBP1):c.525+2T>C SNV
Germline
Chr15:89215058 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
CA393729468 rs_2150970352

1 SubmittersRCV002025395

NM_000326.5(RLBP1):c.1A>T (p.Met1Leu) SNV
Germline
Chr15:89218975 Pathogenic Condition: not provided Criteria Provided
Single Submitter
CA393731961 rs_2051605586

1 SubmittersRCV002049836

NM_000326.5(RLBP1):c.202G>T (p.Glu68Ter) SNV
Germline
Chr15:89217264 Pathogenic Condition: not provided Criteria Provided
Single Submitter
CA393731000 rs_1596184582

1 SubmittersRCV001956109

NM_000326.5(RLBP1):c.508G>T (p.Glu170Ter) SNV
Germline
Chr15:89215077 Pathogenic Condition: not provided Criteria Provided
Single Submitter
CA393729553 rs_1450389945

1 SubmittersRCV001972786

NM_000326.5(RLBP1):c.185C>T (p.Ala62Val) SNV
Germline
Chr15:89217281 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA7722364 rs_144641995

2 SubmittersRCV001914858RCV003164265

NM_000326.5(RLBP1):c.451C>T (p.Arg151Trp) SNV
Germline
Chr15:89215134 Pathogenic/Likely pathogenic Retinitis pigmentosa
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA393729839 rs_764825249

2 SubmittersRCV003226663RCV003561246

NM_000326.5(RLBP1):c.462T>A (p.Tyr154Ter) SNV
Germline
Chr15:89215123 Likely pathogenic RLBP1-related disorder Criteria Provided
Single Submitter
CA393729779 rs_2051568716

1 SubmittersRCV004528662

NM_000326.5(RLBP1):c.735G>A (p.Trp245Ter) SNV
Germline
Chr15:89210759 Pathogenic Condition: not provided Criteria Provided
Single Submitter
CA393728833 rs_2051530949

1 SubmittersRCV003578696

NM_000326.5(RLBP1):c.5C>G (p.Ser2Ter) SNV
Germline
Chr15:89218971 Pathogenic Condition: not provided Criteria Provided
Single Submitter
CA393731952 rs_1212807954

1 SubmittersRCV003670367

NM_000326.5(RLBP1):c.333T>A (p.Tyr111Ter) SNV
Germline
Chr15:89217133 Pathogenic Condition: not provided Criteria Provided
Single Submitter
CA393730679 rs_766675673

1 SubmittersRCV003686465

NM_000326.5(RLBP1):c.61C>T (p.Gln21Ter) SNV
Germline
Chr15:89218645 Pathogenic Condition: not provided Criteria Provided
Single Submitter
CA393731825 rs_2505865153

1 SubmittersRCV003704497

NM_000326.5(RLBP1):c.505C>T (p.Gln169Ter) SNV
Germline
Chr15:89215080 Pathogenic Condition: not provided Criteria Provided
Single Submitter
CA393729566 rs_1185428793

1 SubmittersRCV003710433

NM_000326.5(RLBP1):c.832C>T (p.Gln278Ter) SNV
Germline
Chr15:89210407 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
CA7722162 rs_778665719

1 SubmittersRCV003726753

NM_000326.5(RLBP1):c.346+2T>G SNV
Germline
Chr15:89217118 Pathogenic Condition: not provided Criteria Provided
Single Submitter
CA393730649 rs_2505862898

1 SubmittersRCV003837886

NM_000326.5(RLBP1):c.341T>C (p.Leu114Pro) SNV
Germline
Chr15:89217125 Likely pathogenic Bothnia retinal dystrophy Criteria Provided
Single Submitter
CA393730663 rs_2505862930

1 SubmittersRCV003989021

NM_000326.5(RLBP1):c.141+1G>C SNV
Germline
Chr15:89218564 Pathogenic Condition: not provided Criteria Provided
Single Submitter

1 SubmittersRCV005124609

NM_000326.5(RLBP1):c.498G>A (p.Trp166Ter) SNV
Germline
Chr15:89215087 Pathogenic Condition: not provided Criteria Provided
Single Submitter

1 SubmittersRCV005121649

NM_000326.5(RLBP1):c.685-2A>G SNV
Germline
Chr15:89210811 Likely pathogenic Bothnia retinal dystrophy Criteria Provided
Single Submitter

1 SubmittersRCV005253367

NM_000326.5(RLBP1):c.256G>T (p.Glu86Ter) SNV
Germline
Chr15:89217210 Likely pathogenic Bothnia retinal dystrophy
Pigmentary retinal dystrophy
Newfoundland cone-rod dystrophy
Criteria Provided
Single Submitter

1 SubmittersRCV005393696