A total 198 pathogenic variants reported in gene RP2 activator of ARL3 GTPase (RP2)  
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_006915.3(RP2):c.76C>T (p.Gln26Ter) SNV
Germline		 ChrX:46837176 Pathogenic Retinitis pigmentosa 2
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA255299 rs_104894925

3 SubmittersRCV000011291RCV000657655
NM_006915.3(RP2):c.353G>A (p.Arg118His) SNV
Germline		 ChrX:46853726 Pathogenic/Likely pathogenic Retinitis pigmentosa 2
Condition: not provided
Retinal dystrophy		 Criteria Provided
Multiple Submitters
No Conflicts
 CA255301 rs_28933687

7 SubmittersRCV000011292RCV001215347RCV001075110
NM_006915.3(RP2):c.453C>G (p.Tyr151Ter) SNV
Germline		 ChrX:46853826 Pathogenic Retinitis pigmentosa 2 No Assertion Criteria Provided
 CA255302 rs_104894926

1 SubmittersRCV000011293
NM_006915.3(RP2):c.353G>T (p.Arg118Leu) SNV
Germline		 ChrX:46853726 Pathogenic Retinitis pigmentosa 2
Condition: not provided		 Criteria Provided
Single Submitter
 CA255304 rs_28933687

2 SubmittersRCV000011295RCV006461136
NM_006915.3(RP2):c.358C>T (p.Arg120Ter) SNV
Germline		 ChrX:46853731 Pathogenic Retinitis pigmentosa 2
Retinitis pigmentosa
Retinal dystrophy
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA255305 rs_104894927

12 SubmittersRCV000011297RCV000787701RCV000504994RCV001047806
NM_006915.3(RP2):c.2T>C (p.Met1Thr) SNV
Germline		 ChrX:46837102 Pathogenic/Likely pathogenic Condition: not provided
X-linked retinitis pigmentosa
Retinitis pigmentosa		 Criteria Provided
Multiple Submitters
No Conflicts
 CA236346 rs_797044561

4 SubmittersRCV000171435RCV001257801RCV001003180
NM_006915.3(RP2):c.30G>A (p.Lys10=) SNV
Germline		 ChrX:46837130 Conflicting classifications of pathogenicity Condition: not provided
Retinitis pigmentosa		 Criteria Provided
Conflicting Classifications
 CA10394161 rs_782402689

4 SubmittersRCV000263023RCV000369714
NM_006915.3(RP2):c.50C>T (p.Pro17Leu) SNV
Germline		 ChrX:46837150 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA10394164 rs_782387061

3 SubmittersRCV000416240RCV003362778
NM_006915.3(RP2):c.8G>C (p.Cys3Ser) SNV
Germline		 ChrX:46837108 Conflicting classifications of pathogenicity Condition: not provided
Retinitis pigmentosa 2
Retinal dystrophy		 Criteria Provided
Conflicting Classifications
 CA10394159 rs_782344765

5 SubmittersRCV000479201RCV002470866RCV004816687
NM_006915.3(RP2):c.102G>A (p.Lys34=) SNV
Germline		 ChrX:46837202 Likely pathogenic Leber congenital amaurosis
Retinitis pigmentosa 3
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA516252066 rs_1556313552

3 SubmittersRCV000515686RCV000990803RCV001051097
NM_006915.3(RP2):c.102+3A>C SNV
Germline		 ChrX:46837205 Pathogenic Leber congenital amaurosis No Assertion Criteria Provided
 CA658658980 rs_1556313557

1 SubmittersRCV000515740
NM_006915.3(RP2):c.338C>A (p.Ala113Asp) SNV
Unknown		 ChrX:46853711 Likely pathogenic Retinitis pigmentosa No Assertion Criteria Provided
 CA413039319 rs_1556318627

1 SubmittersRCV000505166
NM_006915.3(RP2):c.352C>T (p.Arg118Cys) SNV
Germline		 ChrX:46853725 Pathogenic/Likely pathogenic Retinal dystrophy
Retinitis pigmentosa
Condition: not provided
X-linked retinitis pigmentosa
Retinitis pigmentosa 2		 Criteria Provided
Multiple Submitters
No Conflicts
 CA413039367 rs_1556318633

9 SubmittersRCV000504762RCV001003184RCV001091011RCV001257800RCV002283485
NM_006915.3(RP2):c.365G>A (p.Cys122Tyr) SNV
Germline		 ChrX:46853738 Pathogenic/Likely pathogenic Condition: not provided
Retinitis pigmentosa		 Criteria Provided
Multiple Submitters
No Conflicts
 CA413039431 rs_1556318642

2 SubmittersRCV000659156RCV001199753
NM_006915.3(RP2):c.49C>T (p.Pro17Ser) SNV
Germline		 ChrX:46837149 Conflicting classifications of pathogenicity Retinitis pigmentosa
not specified
Retinitis pigmentosa 2
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA10394163 rs_782103396

5 SubmittersRCV000787703RCV001797794RCV002507356RCV006464236
NM_006915.3(RP2):c.352C>G (p.Arg118Gly) SNV
Unknown		 ChrX:46853725 Likely pathogenic Retinitis pigmentosa
Thyroid cancer, nonmedullary, 1		 No Assertion Criteria Provided
 CA413039365 rs_1556318633

2 SubmittersRCV000787700RCV005901933
NM_006915.3(RP2):c.390T>A (p.Cys130Ter) SNV
Unknown		 ChrX:46853763 Likely pathogenic Retinitis pigmentosa No Assertion Criteria Provided
 CA413039576 rs_1602347792

1 SubmittersRCV000787702
NM_006915.3(RP2):c.884-14G>A SNV
Germline		 ChrX:46877491 Conflicting classifications of pathogenicity Retinitis pigmentosa 3
Retinal dystrophy
Retinitis pigmentosa 2
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA915951032 rs_1602354996

4 SubmittersRCV000990805RCV001074033RCV001593168RCV002550621
NM_006915.3(RP2):c.102+1G>T SNV
Germline		 ChrX:46837203 Pathogenic Retinitis pigmentosa No Assertion Criteria Provided
 CA413038398 rs_1602342663

1 SubmittersRCV001003182
NM_006915.3(RP2):c.37A>T (p.Lys13Ter) SNV
Germline		 ChrX:46837137 Likely pathogenic Retinal dystrophy Criteria Provided
Single Submitter
 CA413038216 rs_1924521211

1 SubmittersRCV001074570
NM_006915.3(RP2):c.178C>T (p.Gln60Ter) SNV
Germline		 ChrX:46853551 Likely pathogenic Retinal dystrophy Criteria Provided
Single Submitter
 CA413038946 rs_1924897230

1 SubmittersRCV001075521
NM_006915.3(RP2):c.324C>A (p.Cys108Ter) SNV
Germline		 ChrX:46853697 Likely pathogenic Retinal dystrophy Criteria Provided
Single Submitter
 CA413039285 rs_1924901288

1 SubmittersRCV001075545
NM_006915.3(RP2):c.566T>C (p.Leu189Pro) SNV
Germline		 ChrX:46853939 Conflicting classifications of pathogenicity Retinal dystrophy
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA413040229 rs_1924908706

2 SubmittersRCV001073701RCV001306183
NM_006915.3(RP2):c.768G>C (p.Glu256Asp) SNV
Germline		 ChrX:46854141 Conflicting classifications of pathogenicity Retinitis pigmentosa 2
Condition: not provided
Retinal dystrophy		 Criteria Provided
Conflicting Classifications
 CA413040673 rs_1227276668

5 SubmittersRCV001376362RCV002557901RCV003890230
NM_006915.3(RP2):c.768+1G>C SNV
Germline		 ChrX:46854142 Likely pathogenic Retinal dystrophy Criteria Provided
Single Submitter
 CA413040676 rs_1924915809

1 SubmittersRCV001074537
NM_006915.3(RP2):c.884-1G>A SNV
Germline		 ChrX:46877504 Pathogenic Retinal dystrophy
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA413036148 rs_1925389524

2 SubmittersRCV001074133RCV001384125
NM_006915.3(RP2):c.11T>G (p.Phe4Cys) SNV
Germline		 ChrX:46837111 Conflicting classifications of pathogenicity Retinitis pigmentosa
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA10394160 rs_782190396

2 SubmittersRCV001168266RCV001522598
NM_006915.3(RP2):c.167C>T (p.Thr56Met) SNV
Germline		 ChrX:46853540 Conflicting classifications of pathogenicity Condition: not provided Criteria Provided
Conflicting Classifications
 CA413038926 rs_1201646093

2 SubmittersRCV001211919
NM_006915.3(RP2):c.901G>T (p.Glu301Ter) SNV
Germline		 ChrX:46877522 Pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA413036185 rs_1925390218

1 SubmittersRCV001239428
NM_006915.3(RP2):c.769-3C>A SNV
Germline		 ChrX:46859985 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA1139667500 rs_1925035156

1 SubmittersRCV001268597
NM_006915.3(RP2):c.593A>G (p.Tyr198Cys) SNV
Germline		 ChrX:46853966 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA10394219 rs_782195010

2 SubmittersRCV001320508RCV005271156
NM_006915.3(RP2):c.969+2T>C SNV
Germline		 ChrX:46877592 Pathogenic/Likely pathogenic Condition: not provided
Retinitis pigmentosa 2		 Criteria Provided
Multiple Submitters
No Conflicts
 CA413036377 rs_1925392056

2 SubmittersRCV001347060RCV001376363
NM_006915.3(RP2):c.884-9T>A SNV
Germline		 ChrX:46877496 Likely pathogenic Retinitis pigmentosa 2 Criteria Provided
Single Submitter
 CA2427738354 rs_1428719874

1 SubmittersRCV001353020
NM_006915.3(RP2):c.226G>T (p.Asp76Tyr) SNV
Germline		 ChrX:46853599 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA413039066 rs_1924898105

1 SubmittersRCV001360743
NM_006915.3(RP2):c.103-2A>G SNV
Germline		 ChrX:46853474 Likely pathogenic Retinitis pigmentosa 2 Criteria Provided
Single Submitter
 CA413038777 rs_2147081133

1 SubmittersRCV001376282
NM_006915.3(RP2):c.284C>T (p.Pro95Leu) SNV
Germline		 ChrX:46853657 Pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA413039194 rs_2147081255

1 SubmittersRCV001379029
NM_006915.3(RP2):c.58G>T (p.Glu20Ter) SNV
Germline		 ChrX:46837158 Pathogenic Condition: not provided
Retinitis pigmentosa 2		 Criteria Provided
Multiple Submitters
No Conflicts
 CA413038259 rs_1924523272

2 SubmittersRCV001382693RCV005438985
NM_006915.3(RP2):c.91C>T (p.Gln31Ter) SNV
Germline		 ChrX:46837191 Pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA413038359 rs_2147074694

1 SubmittersRCV001389355
NM_006915.3(RP2):c.450G>A (p.Trp150Ter) SNV
Germline		 ChrX:46853823 Pathogenic Condition: not provided
Retinitis pigmentosa 2		 Criteria Provided
Multiple Submitters
No Conflicts
 CA413039911 rs_1924906177

2 SubmittersRCV001380314RCV003336392
NM_006915.3(RP2):c.700G>T (p.Glu234Ter) SNV
Germline		 ChrX:46854073 Pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA413040521 rs_2147081558

1 SubmittersRCV001386604
NM_006915.3(RP2):c.298G>A (p.Val100Met) SNV
Germline		 ChrX:46853671 Conflicting classifications of pathogenicity Condition: not provided
Retinal dystrophy
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA10394204 rs_781936550

3 SubmittersRCV001463994RCV003888182RCV005271299
NM_006915.3(RP2):c.524A>C (p.His175Pro) SNV
Germline		 ChrX:46853897 Likely pathogenic Retinitis pigmentosa 2 Criteria Provided
Single Submitter
 CA413040131 rs_2147081422

1 SubmittersRCV001526697
NM_006915.3(RP2):c.889G>C (p.Val297Leu) SNV
Germline		 ChrX:46877510 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases
Retinitis pigmentosa 2		 Criteria Provided
Conflicting Classifications
 CA10394261 rs_200720598

3 SubmittersRCV002129731RCV003025428RCV005397318
NM_006915.3(RP2):c.768+1G>A SNV
Germline		 ChrX:46854142 Likely pathogenic Retinitis pigmentosa 2
Condition: not provided
Thyroid cancer, nonmedullary, 1		 Criteria Provided
Single Submitter
 CA413040675 rs_1924915809

3 SubmittersRCV001542516RCV002568949RCV005914902
NM_006915.3(RP2):c.434T>C (p.Phe145Ser) SNV
Germline		 ChrX:46853807 Conflicting classifications of pathogenicity Condition: not provided
Retinitis pigmentosa 2		 Criteria Provided
Conflicting Classifications
 CA329691497 rs_1000426939

2 SubmittersRCV001866155RCV001591849
NM_006915.3(RP2):c.969+3A>C SNV
Unknown		 ChrX:46877593 Likely pathogenic Retinitis pigmentosa 2 Criteria Provided
Single Submitter
 CA2499226737 rs_2147089334

1 SubmittersRCV001730122
NM_006915.3(RP2):c.257G>A (p.Cys86Tyr) SNV
Germline		 ChrX:46853630 Pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA413039135 rs_2147081236

1 SubmittersRCV001968924
NM_006915.3(RP2):c.2T>A (p.Met1Lys) SNV
Germline		 ChrX:46837102 Pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA413038134 rs_797044561

1 SubmittersRCV001902474
NM_006915.3(RP2):c.778A>T (p.Lys260Ter) SNV
Germline		 ChrX:46859997 Pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA413040710 rs_2147083231

1 SubmittersRCV002035292
NM_006915.3(RP2):c.832C>T (p.Gln278Ter) SNV
Germline		 ChrX:46860051 Pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA413040833 rs_2147083249

1 SubmittersRCV001887915
NM_006915.3(RP2):c.200G>A (p.Cys67Tyr) SNV
Germline		 ChrX:46853573 Conflicting classifications of pathogenicity Condition: not provided
Retinal dystrophy		 Criteria Provided
Conflicting Classifications
 CA413038999 rs_2147081192

2 SubmittersRCV001999487RCV003889000
NM_006915.3(RP2):c.472C>T (p.Gln158Ter) SNV
Germline		 ChrX:46853845 Pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA413040006 rs_2147081382

1 SubmittersRCV001960664
NM_006915.3(RP2):c.87G>A (p.Trp29Ter) SNV
Germline		 ChrX:46837187 Pathogenic/Likely pathogenic Condition: not provided
Retinal dystrophy		 Criteria Provided
Multiple Submitters
No Conflicts
 CA413038343 rs_2147074689

2 SubmittersRCV001946850RCV003888942
NM_006915.3(RP2):c.1A>G (p.Met1Val) SNV
Germline		 ChrX:46837101 Pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA413038132 rs_2147074594

1 SubmittersRCV001946602
NM_006915.3(RP2):c.22A>T (p.Arg8Ter) SNV
Germline		 ChrX:46837122 Pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA413038181 rs_2147074627

1 SubmittersRCV001956114
NM_006915.3(RP2):c.557G>A (p.Trp186Ter) SNV
Germline		 ChrX:46853930 Pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA413040205 rs_2147081435

1 SubmittersRCV002047471
NM_006915.3(RP2):c.175G>T (p.Gly59Ter) SNV
Germline		 ChrX:46853548 Pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA413038941 rs_2147081178

1 SubmittersRCV001863498
NM_006915.3(RP2):c.431A>G (p.Lys144Arg) SNV
Germline		 ChrX:46853804 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA329691496 rs_3126141

2 SubmittersRCV001979838RCV004043820
NM_006915.3(RP2):c.758T>G (p.Leu253Arg) SNV
Germline		 ChrX:46854131 Likely pathogenic Condition: not provided
Retinitis pigmentosa		 Criteria Provided
Multiple Submitters
No Conflicts
 CA413040650 rs_2147081596

2 SubmittersRCV001916442RCV005238060
NM_006915.3(RP2):c.941T>C (p.Ile314Thr) SNV
Germline		 ChrX:46877562 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA10394266 rs_781981286

2 SubmittersRCV002071510RCV005473111
NM_006915.3(RP2):c.829G>A (p.Ala277Thr) SNV
Germline		 ChrX:46860048 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA10394252 rs_782775255

2 SubmittersRCV002142674RCV004046557
NM_006915.3(RP2):c.685C>T (p.Gln229Ter) SNV
Germline		 ChrX:46854058 Pathogenic Condition: not provided Criteria Provided
Multiple Submitters
No Conflicts
 CA413040481 rs_2147081545

2 SubmittersRCV002245124
NM_006915.3(RP2):c.102+3A>T SNV
Germline		 ChrX:46837205 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA2580101000 rs_1556313557

1 SubmittersRCV003050611
NM_006915.3(RP2):c.969+3A>G SNV
Germline		 ChrX:46877593 Pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA2580100997 rs_2147089334

1 SubmittersRCV003064714
NM_006915.3(RP2):c.769-2A>G SNV
Germline		 ChrX:46859986 Pathogenic Condition: not provided
Nonpapillary renal cell carcinoma		 Criteria Provided
Single Submitter
 CA413040682 rs_2519918532

2 SubmittersRCV003079246RCV005930409
NM_006915.3(RP2):c.2T>G (p.Met1Arg) SNV
Germline		 ChrX:46837102 Pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA413038135 rs_797044561

1 SubmittersRCV002824425
NM_006915.3(RP2):c.735C>G (p.Tyr245Ter) SNV
Germline		 ChrX:46854108 Pathogenic Condition: not provided
Retinal dystrophy		 Criteria Provided
Single Submitter
 CA413040600 rs_1490594879

2 SubmittersRCV002795994RCV004817121
NM_006915.3(RP2):c.710T>G (p.Leu237Ter) SNV
Germline		 ChrX:46854083 Pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA413040545 rs_2519914870

1 SubmittersRCV002834380
NM_006915.3(RP2):c.256T>C (p.Cys86Arg) SNV
Germline		 ChrX:46853629 Conflicting classifications of pathogenicity Condition: not provided
Retinal dystrophy		 Criteria Provided
Conflicting Classifications
 CA413039131 rs_2519914044

2 SubmittersRCV002889554RCV003889172
NM_006915.3(RP2):c.1A>T (p.Met1Leu) SNV
Germline		 ChrX:46837101 Pathogenic/Likely pathogenic Condition: not provided
Retinitis pigmentosa 2		 Criteria Provided
Multiple Submitters
No Conflicts
 CA413038133 rs_2147074594

2 SubmittersRCV003006391RCV005254661
NM_006915.3(RP2):c.632G>A (p.Arg211His) SNV
Germline		 ChrX:46854005 Conflicting classifications of pathogenicity Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 CA10394228 rs_782164955

2 SubmittersRCV003560239RCV005063027
NM_006915.3(RP2):c.884-2A>G SNV
Germline		 ChrX:46877503 Pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA413036145 rs_2519928443

1 SubmittersRCV003560241
NM_006915.3(RP2):c.430A>T (p.Lys144Ter) SNV
Germline		 ChrX:46853803 Pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA413039799 rs_2519914408

1 SubmittersRCV003691277
NM_006915.3(RP2):c.612C>T (p.Thr204=) SNV
Germline		 ChrX:46853985 Conflicting classifications of pathogenicity Condition: not provided
Retinal dystrophy		 Criteria Provided
Conflicting Classifications
 CA10394224 rs_781941648

2 SubmittersRCV003860343RCV003889355
NM_006915.3(RP2):c.28A>T (p.Lys10Ter) SNV
Germline		 ChrX:46837128 Likely pathogenic Retinal dystrophy Criteria Provided
Single Submitter
 CA413038194 rs_1556313447

1 SubmittersRCV003890471
NM_006915.3(RP2):c.102+1G>A SNV
Germline		 ChrX:46837203 Pathogenic Retinal dystrophy Criteria Provided
Single Submitter

1 SubmittersRCV004818570
NM_006915.3(RP2):c.769-1G>A SNV
Germline		 ChrX:46859987 Pathogenic Retinal dystrophy Criteria Provided
Single Submitter

1 SubmittersRCV004818693
NM_006915.3(RP2):c.512G>A (p.Trp171Ter) SNV
Germline		 ChrX:46853885 Pathogenic Retinal dystrophy No Assertion Criteria Provided

1 SubmittersRCV004816240
NM_006915.3(RP2):c.266G>A (p.Cys89Tyr) SNV
Germline		 ChrX:46853639 Likely pathogenic Retinal dystrophy No Assertion Criteria Provided

1 SubmittersRCV004817347
NM_006915.3(RP2):c.847G>T (p.Glu283Ter) SNV
Germline		 ChrX:46860066 Likely pathogenic Retinal dystrophy
Thyroid cancer, nonmedullary, 1		 No Assertion Criteria Provided

2 SubmittersRCV004817376RCV005939509
NM_006915.3(RP2):c.884-1G>C SNV
Germline		 ChrX:46877504 Pathogenic Retinal dystrophy Criteria Provided
Single Submitter

1 SubmittersRCV004818755
NM_006915.3(RP2):c.445C>T (p.Gln149Ter) SNV
Germline		 ChrX:46853818 Pathogenic Retinitis pigmentosa 2 Criteria Provided
Single Submitter

1 SubmittersRCV005041808
NM_006915.3(RP2):c.828T>G (p.Asp276Glu) SNV
Germline		 ChrX:46860047 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV005157982RCV005475627
NM_006915.3(RP2):c.413A>G (p.Glu138Gly) SNV
Germline		 ChrX:46853786 Pathogenic Condition: not provided Criteria Provided
Single Submitter

1 SubmittersRCV005199052
NM_006915.3(RP2):c.412G>T (p.Glu138Ter) SNV
Germline		 ChrX:46853785 Likely pathogenic Retinitis pigmentosa 2 Criteria Provided
Single Submitter

1 SubmittersRCV005253243
NM_006915.3(RP2):c.768+1G>T SNV
Germline		 ChrX:46854142 Pathogenic Retinitis pigmentosa 2 Criteria Provided
Single Submitter

1 SubmittersRCV005254213
NM_006915.3(RP2):c.805G>T (p.Glu269Ter) SNV
Germline		 ChrX:46860024 Likely pathogenic Retinitis pigmentosa 2 Criteria Provided
Single Submitter

1 SubmittersRCV005885989