A total 4 pathogenic variants reported in gene pre-mRNA processing factor 4 (PRPF4)  
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_001244926.2(PRPF4):c.941C>T (p.Pro314Leu) SNV
Germline		 Chr9:113288183 Likely pathogenic Retinitis pigmentosa 70
Condition: not provided
Retinal dystrophy		 Criteria Provided
Multiple Submitters
No Conflicts
 CA170079 rs_587777599

3 SubmittersRCV000132564RCV001268585RCV004815198
NM_001244926.2(PRPF4):c.1504G>A (p.Asp502Asn) SNV
Germline		 Chr9:113291598 Conflicting classifications of pathogenicity Condition: not provided
Retinitis pigmentosa 70
not specified		 Criteria Provided
Conflicting Classifications
 CA5195190 rs_141207203

4 SubmittersRCV001210372RCV002471044RCV004033795
NM_001244926.2(PRPF4):c.739A>G (p.Thr247Ala) SNV
Germline		 Chr9:113284379 Conflicting classifications of pathogenicity Condition: not provided
Retinal dystrophy
not specified		 Criteria Provided
Conflicting Classifications
 CA5194981 rs_563764064

4 SubmittersRCV001354561RCV004815445RCV004036712
NM_001244926.2(PRPF4):c.119A>G (p.Glu40Gly) SNV
Germline		 Chr9:113276639 Conflicting classifications of pathogenicity Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 CA5194779 rs_759807240

3 SubmittersRCV001932215RCV004656688