A total 34 pathogenic variants reported in gene pre-mRNA processing factor 6 (PRPF6)  
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_012469.4(PRPF6):c.550G>C (p.Asp184His) SNV
Unknown
Chr20:63995027 Likely pathogenic Retinitis pigmentosa No Assertion Criteria Provided
CA270103 rs_527236096

1 SubmittersRCV000132667

NM_012469.4(PRPF6):c.1368G>A (p.Ala456=) SNV
Germline
Chr20:64011347 Conflicting classifications of pathogenicity Condition: not provided Criteria Provided
Conflicting Classifications
CA239594 rs_139828718

2 SubmittersRCV000174123

NM_012469.4(PRPF6):c.171G>C (p.Gly57=) SNV
Germline
Chr20:63983146 Conflicting classifications of pathogenicity Condition: not provided Criteria Provided
Conflicting Classifications
CA241650 rs_749669162

2 SubmittersRCV000175851

NM_012469.4(PRPF6):c.891C>T (p.Leu297=) SNV
Germline
Chr20:63999627 Conflicting classifications of pathogenicity Condition: not provided
Retinitis pigmentosa
Criteria Provided
Conflicting Classifications
CA247700 rs_41278234

4 SubmittersRCV000180310RCV001139621

NM_012469.4(PRPF6):c.1797G>A (p.Arg599=) SNV
Germline
Chr20:64024582 Conflicting classifications of pathogenicity Condition: not provided Criteria Provided
Conflicting Classifications
CA9972302 rs_145483312

2 SubmittersRCV000309139

NM_012469.4(PRPF6):c.772-7C>T SNV
Germline
Chr20:63999038 Conflicting classifications of pathogenicity Condition: not provided Criteria Provided
Conflicting Classifications
CA9971997 rs_558787024

2 SubmittersRCV000315227

NM_012469.4(PRPF6):c.616-7C>T SNV
Germline
Chr20:63995320 Conflicting classifications of pathogenicity Retinitis pigmentosa
Condition: not provided
Criteria Provided
Conflicting Classifications
CA9971958 rs_368728762

2 SubmittersRCV000291159RCV002057752

NM_012469.4(PRPF6):c.2779G>A (p.Gly927Arg) SNV
Germline
Chr20:64032946 Conflicting classifications of pathogenicity Retinitis pigmentosa
Condition: not provided
Criteria Provided
Conflicting Classifications
CA9972600 rs_145731410

2 SubmittersRCV000300514RCV001517956

NM_012469.4(PRPF6):c.1566C>T (p.Cys522=) SNV
Germline
Chr20:64016764 Conflicting classifications of pathogenicity Retinitis pigmentosa
Condition: not provided
Criteria Provided
Conflicting Classifications
CA9972222 rs_367582115

2 SubmittersRCV000359036RCV002057754

NM_012469.4(PRPF6):c.57G>A (p.Pro19=) SNV
Germline
Chr20:63981302 Conflicting classifications of pathogenicity Retinitis pigmentosa
Condition: not provided
Criteria Provided
Conflicting Classifications
CA9971774 rs_779283679

2 SubmittersRCV000323532RCV004597784

NM_012469.4(PRPF6):c.616-10T>G SNV
Germline
Chr20:63995317 Conflicting classifications of pathogenicity Retinitis pigmentosa
Condition: not provided
Criteria Provided
Conflicting Classifications
CA9971957 rs_376559986

2 SubmittersRCV000383164RCV002057751

NM_012469.4(PRPF6):c.1164A>G (p.Ala388=) SNV
Germline
Chr20:64001217 Conflicting classifications of pathogenicity Retinitis pigmentosa
Condition: not provided
PRPF6-related disorder
Criteria Provided
Conflicting Classifications
CA9972103 rs_201984924

3 SubmittersRCV000313487RCV001513252RCV003932358

NM_012469.4(PRPF6):c.1944C>T (p.Ala648=) SNV
Germline
Chr20:64025974 Conflicting classifications of pathogenicity Retinitis pigmentosa
Condition: not provided
Retinal dystrophy
Criteria Provided
Conflicting Classifications
CA9972337 rs_151332876

3 SubmittersRCV000381203RCV000914708RCV003888815

NM_012469.4(PRPF6):c.514C>T (p.Arg172Trp) SNV
Germline
Chr20:63994991 Conflicting classifications of pathogenicity Retinal dystrophy
Condition: not provided
Criteria Provided
Conflicting Classifications
CA9971925 rs_369787039

3 SubmittersRCV001074688RCV001226967

NM_012469.4(PRPF6):c.61C>T (p.Leu21=) SNV
Germline
Chr20:63981306 Conflicting classifications of pathogenicity Retinitis pigmentosa
Condition: not provided
Criteria Provided
Conflicting Classifications
CA9971777 rs_775751428

2 SubmittersRCV001142120RCV001522808

NM_012469.4(PRPF6):c.282C>T (p.Tyr94=) SNV
Germline
Chr20:63984948 Conflicting classifications of pathogenicity Retinitis pigmentosa
Condition: not provided
Criteria Provided
Conflicting Classifications
CA9971859 rs_758722968

2 SubmittersRCV001137385RCV002070606

NM_012469.4(PRPF6):c.2349C>T (p.Ser783=) SNV
Germline
Chr20:64028487 Conflicting classifications of pathogenicity Retinitis pigmentosa
Condition: not provided
Criteria Provided
Conflicting Classifications
CA9972450 rs_138601260

2 SubmittersRCV001137499RCV002070610

NM_012469.4(PRPF6):c.2607G>A (p.Lys869=) SNV
Germline
Chr20:64031978 Conflicting classifications of pathogenicity Retinitis pigmentosa
Condition: not provided
Criteria Provided
Conflicting Classifications
CA9972533 rs_201168471

2 SubmittersRCV001137501RCV001520924

NM_012469.4(PRPF6):c.*1T>C SNV
Germline
Chr20:64032994 Conflicting classifications of pathogenicity Retinitis pigmentosa
Retinal dystrophy
Criteria Provided
Conflicting Classifications
CA636635951 rs_1167495795

2 SubmittersRCV001139714RCV003890288

NM_012469.4(PRPF6):c.438+15C>T SNV
Germline
Chr20:63993500 Conflicting classifications of pathogenicity Retinitis pigmentosa
Condition: not provided
Criteria Provided
Conflicting Classifications
CA9971892 rs_371384048

2 SubmittersRCV001137387RCV002070607

NM_012469.4(PRPF6):c.439-4C>T SNV
Germline
Chr20:63994912 Conflicting classifications of pathogenicity Retinitis pigmentosa
Condition: not provided
Criteria Provided
Conflicting Classifications
CA9971912 rs_371780214

2 SubmittersRCV001137388RCV002556923

NM_012469.4(PRPF6):c.867-6T>C SNV
Germline
Chr20:63999597 Conflicting classifications of pathogenicity Retinitis pigmentosa
Condition: not provided
Criteria Provided
Conflicting Classifications
CA9972036 rs_200951432

2 SubmittersRCV001139620RCV001395542

NM_012469.4(PRPF6):c.1305+11C>T SNV
Germline
Chr20:64010329 Conflicting classifications of pathogenicity Retinitis pigmentosa
Condition: not provided
Retinal dystrophy
Criteria Provided
Conflicting Classifications
CA9972140 rs_190123178

3 SubmittersRCV001140381RCV002070677RCV004813794

NM_012469.4(PRPF6):c.1306-7C>T SNV
Germline
Chr20:64011278 Conflicting classifications of pathogenicity Retinitis pigmentosa
Condition: not provided
Criteria Provided
Conflicting Classifications
CA9972165 rs_373810213

2 SubmittersRCV001140382RCV001516457

NM_012469.4(PRPF6):c.1525-7C>T SNV
Germline
Chr20:64016716 Conflicting classifications of pathogenicity Retinitis pigmentosa
Condition: not provided
Criteria Provided
Conflicting Classifications
CA9972215 rs_200467198

2 SubmittersRCV001142237RCV001521575

NM_012469.4(PRPF6):c.1769+8G>A SNV
Germline
Chr20:64022886 Conflicting classifications of pathogenicity Retinitis pigmentosa
Condition: not provided
Criteria Provided
Conflicting Classifications
CA317546475 rs_1021327099

2 SubmittersRCV001142238RCV002070705

NM_012469.4(PRPF6):c.2673+12C>G SNV
Germline
Chr20:64032056 Conflicting classifications of pathogenicity Retinitis pigmentosa
Condition: not provided
Criteria Provided
Conflicting Classifications
CA9972547 rs_374801637

2 SubmittersRCV001139713RCV001422330

NM_012469.4(PRPF6):c.2615C>T (p.Ser872Leu) SNV
Germline
Chr20:64031986 Conflicting classifications of pathogenicity Condition: not provided
Retinal dystrophy
Criteria Provided
Conflicting Classifications
CA9972534 rs_767793133

2 SubmittersRCV002015846RCV003888992

NM_012469.4(PRPF6):c.2252G>A (p.Arg751Gln) SNV
Germline
Chr20:64027649 Conflicting classifications of pathogenicity Condition: not provided
Retinal dystrophy
Criteria Provided
Conflicting Classifications
CA9972406 rs_745862108

2 SubmittersRCV002890454RCV003889174

NM_012469.4(PRPF6):c.2206T>C (p.Leu736=) SNV
Germline
Chr20:64027603 Conflicting classifications of pathogenicity Condition: not provided
not specified
Criteria Provided
Conflicting Classifications
CA9972402 rs_372237082

2 SubmittersRCV003570492RCV006307406

NM_012469.4(PRPF6):c.2491G>A (p.Val831Met) SNV
Germline
Chr20:64029436 Conflicting classifications of pathogenicity Condition: not provided
Retinal dystrophy
Criteria Provided
Conflicting Classifications
CA9972501 rs_749610328

2 SubmittersRCV003834390RCV003889349

NM_012469.4(PRPF6):c.580G>A (p.Gly194Arg) SNV
Germline
Chr20:63995057 Conflicting classifications of pathogenicity Condition: not provided
Retinitis pigmentosa 60
Criteria Provided
Conflicting Classifications
CA9971937 rs_767880837

2 SubmittersRCV003832158RCV006699497

NM_012469.4(PRPF6):c.1629G>A (p.Trp543Ter) SNV
Germline
Chr20:64016827 Likely pathogenic Retinal dystrophy Criteria Provided
Single Submitter
CA409730015 rs_2517639832

1 SubmittersRCV003890424