Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_000322.5(PRPH2):c.647C>T (p.Pro216Leu)	SNV Germline	Chr6:42704546	Pathogenic	Retinitis pigmentosa 7 Condition: not provided Retinitis pigmentosa PRPH2-related disorder Retinal dystrophy Patterned dystrophy of the retinal pigment epithelium	Criteria Provided Multiple Submitters No Conflicts	CA226285	rs_61755806	10 SubmittersRCV000014050 RCV000085007 RCV001003142 RCV001063368 RCV001075781 RCV001250376
NM_000322.5(PRPH2):c.554T>C (p.Leu185Pro)	SNV Germline	Chr6:42721781	Pathogenic/Likely pathogenic	Retinitis pigmentosa 7, digenic Condition: not provided Leber congenital amaurosis 18 Patterned macular dystrophy 1 Retinal dystrophy Patterned dystrophy of the retinal pigment epithelium PRPH2-related disorder Retinitis pigmentosa	Criteria Provided Multiple Submitters No Conflicts	CA122928	rs_121918563	8 SubmittersRCV000014051 RCV000084987 RCV000149464 RCV000149466 RCV001075516 RCV001250378 RCV001378481 RCV001530305
NM_000322.5(PRPH2):c.515G>A (p.Arg172Gln)	SNV Germline	Chr6:42721820	Pathogenic/Likely pathogenic	Choroidal dystrophy, central areolar 2 Condition: not provided Macular dystrophy Retinitis pigmentosa PRPH2-related disorder Patterned dystrophy of the retinal pigment epithelium Stargardt disease Vitelliform macular dystrophy 3 Retinal dystrophy Retinitis pigmentosa 7	Criteria Provided Multiple Submitters No Conflicts	CA122930	rs_61755793	14 SubmittersRCV000014053 RCV000084982 RCV000787664 RCV000787663 RCV001054658 RCV001250353 RCV001250367 RCV001799605 RCV001074392 RCV005234784
NM_000322.5(PRPH2):c.774C>A (p.Tyr258Ter)	SNV Germline	Chr6:42704419	Pathogenic	Condition: not provided Vitelliform macular dystrophy 3	No Assertion Criteria Provided	CA122932	rs_121918564	2 SubmittersRCV001530382 RCV002508118
NM_000322.5(PRPH2):c.500G>A (p.Gly167Asp)	SNV Germline	Chr6:42721835	Pathogenic/Likely pathogenic	Patterned macular dystrophy 1 Condition: not provided PRPH2-related disorder Choroidal dystrophy, central areolar 2	Criteria Provided Multiple Submitters No Conflicts	CA122934	rs_61755789	6 SubmittersRCV000014055 RCV000084977 RCV001857348 RCV006645792
NM_000322.5(PRPH2):c.514C>T (p.Arg172Trp)	SNV Germline	Chr6:42721821	Pathogenic/Likely pathogenic	Choroidal dystrophy, central areolar 2 Condition: not provided PRPH2-related disorder maculopathy Retinitis pigmentosa Patterned dystrophy of the retinal pigment epithelium Vitelliform macular dystrophy 2 Cone-rod dystrophy Stargardt disease Patterned macular dystrophy 1 Retinitis pigmentosa 7 Retinitis pigmentosa 40 Retinal dystrophy Retinal disorder	Criteria Provided Multiple Submitters No Conflicts	CA122936	rs_61755792	19 SubmittersRCV000014056 RCV000084981 RCV001049315 RCV001003147 RCV001250348 RCV001250349 RCV001250351 RCV001250350 RCV001250352 RCV001352972 RCV002466402 RCV006697992 RCV003887869 RCV006272080
NM_000322.5(PRPH2):c.732C>A (p.Asn244Lys)	SNV Germline	Chr6:42704461	Pathogenic	Retinitis pigmentosa 7 Condition: not provided Retinal dystrophy PRPH2-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA226304	rs_61755816	5 SubmittersRCV000014058 RCV000085017 RCV003887870 RCV006461155
NM_000322.5(PRPH2):c.629C>G (p.Pro210Arg)	SNV Germline	Chr6:42704564	Pathogenic/Likely pathogenic	Condition: not provided PRPH2-related disorder Retinal dystrophy Patterned dystrophy of the retinal pigment epithelium Vitelliform macular dystrophy 2 Stargardt disease Vitelliform macular dystrophy 3	Criteria Provided Multiple Submitters No Conflicts	CA122938	rs_61755798	9 SubmittersRCV000084997 RCV000322776 RCV001074849 RCV001250287 RCV001250288 RCV001250286 RCV002508119
NM_000322.5(PRPH2):c.2T>C (p.Met1Thr)	SNV Germline	Chr6:42722333	Pathogenic/Likely pathogenic	Condition: not provided Vitelliform macular dystrophy 3 PRPH2-related disorder Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA122940	rs_121918565	5 SubmittersRCV000084961 RCV002508120 RCV002513033 RCV004814901
NM_000322.5(PRPH2):c.947G>A (p.Trp316Ter)	SNV Germline	Chr6:42698389	Pathogenic	Condition: not provided Vitelliform macular dystrophy 3	No Assertion Criteria Provided	CA122942	rs_121918566	3 SubmittersRCV000085035 RCV002508121
NM_000322.5(PRPH2):c.136C>T (p.Arg46Ter)	SNV Germline	Chr6:42722199	Pathogenic/Likely pathogenic	Retinitis pigmentosa 7 Condition: not provided Patterned macular dystrophy 1 PRPH2-related disorder Retinal dystrophy Stargardt disease Patterned dystrophy of the retinal pigment epithelium Choroidal dystrophy, central areolar 2 Retinitis pigmentosa 40	Criteria Provided Multiple Submitters No Conflicts	CA226209	rs_61755771	16 SubmittersRCV000014067 RCV000084955 RCV000987699 RCV001039794 RCV001075450 RCV001250276 RCV001250291 RCV003987319 RCV006697993
NM_000322.5(PRPH2):c.518A>T (p.Asp173Val)	SNV Germline	Chr6:42721817	Pathogenic	Retinitis pigmentosa 7 Condition: not provided PRPH2-related disorder	Criteria Provided Single Submitter	CA226248	rs_61755794	4 SubmittersRCV000014069 RCV000084983 RCV005089248
NM_000322.5(PRPH2):c.584G>T (p.Arg195Leu)	SNV Germline	Chr6:42704609	Pathogenic	Choroidal dystrophy, central areolar 2 Condition: not provided PRPH2-related disorder Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA122944	rs_121918567	6 SubmittersRCV000014070 RCV000084990 RCV002513034 RCV004814903
NM_000322.5(PRPH2):c.424C>T (p.Arg142Trp)	SNV Germline	Chr6:42721911	Pathogenic/Likely pathogenic	Choroidal dystrophy, central areolar 2 Condition: not provided Cone dystrophy Progressive cone dystrophy (without rod involvement) PRPH2-related disorder maculopathy Retinal dystrophy Patterned macular dystrophy 1 Patterned dystrophy of the retinal pigment epithelium Stargardt disease Retinitis pigmentosa	Criteria Provided Multiple Submitters No Conflicts	CA122946	rs_61755783	19 SubmittersRCV000014071 RCV000084971 RCV000678606 RCV000787661 RCV001061048 RCV001003149 RCV001075677 RCV001353001 RCV001250319 RCV001250318 RCV001250320
NM_000322.5(PRPH2):c.202G>A (p.Gly68Arg)	SNV Germline	Chr6:42722133	Pathogenic	Condition: not provided PRPH2-related disorder	Criteria Provided Single Submitter	CA226216	rs_61755774	2 SubmittersRCV000084959 RCV001857415
NM_000322.5(PRPH2):c.249C>T (p.Tyr83=)	SNV Germline	Chr6:42722086	Conflicting classifications of pathogenicity	Condition: not provided PRPH2-related disorder Adult-onset foveomacular vitelliform dystrophy Choroidal dystrophy, central areolar 2 Patterned macular dystrophy 1 Retinitis pigmentosa not specified Pigmentary retinal dystrophy Cone-rod dystrophy Retinal dystrophy	Criteria Provided Conflicting Classifications	CA226218	rs_61755775	8 SubmittersRCV000084960 RCV001086017 RCV001165122 RCV001158408 RCV001158409 RCV001165124 RCV001699036 RCV001158410 RCV001165123 RCV003888453
NM_000322.5(PRPH2):c.37C>T (p.Arg13Trp)	SNV Germline	Chr6:42722298	Conflicting classifications of pathogenicity	PRPH2-related disorder Choroidal dystrophy, central areolar 2 Adult-onset foveomacular vitelliform dystrophy Pigmentary retinal dystrophy Retinitis pigmentosa Cone-rod dystrophy Patterned macular dystrophy 1 Retinal dystrophy Condition: not provided	Criteria Provided Conflicting Classifications	CA226230	rs_61754402	9 SubmittersRCV001078785 RCV001165228 RCV001165230 RCV001158514 RCV001165229 RCV001165231 RCV001165232 RCV003888454 RCV000084967
NM_000322.5(PRPH2):c.421T>C (p.Tyr141His)	SNV Germline	Chr6:42721914	Pathogenic/Likely pathogenic	Condition: not provided PRPH2-related disorder Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA226232	rs_61755780	4 SubmittersRCV000084968 RCV002513911 RCV004815030
NM_000322.5(PRPH2):c.422A>G (p.Tyr141Cys)	SNV Germline	Chr6:42721913	Pathogenic/Likely pathogenic	PRPH2-related disorder Retinal dystrophy Stargardt disease Cone-rod dystrophy Patterned dystrophy of the retinal pigment epithelium Autosomal recessive bestrophinopathy Retinitis pigmentosa Vitelliform macular dystrophy 3 Choroidal dystrophy, central areolar 2 Vitelliform macular dystrophy 3 Retinitis pigmentosa 7 Pigmentary retinal dystrophy Patterned macular dystrophy 1 Condition: not provided Patterned macular dystrophy 1	Criteria Provided Multiple Submitters No Conflicts	CA185988	rs_61755781	12 SubmittersRCV001051727 RCV001074856 RCV001250306 RCV001250317 RCV001250316 RCV001353037 RCV001723663 RCV002508140 RCV005031577 RCV000084969 RCV000161145
NM_000322.5(PRPH2):c.458A>G (p.Lys153Arg)	SNV Germline	Chr6:42721877	Pathogenic/Likely pathogenic	Condition: not provided PRPH2-related disorder Retinitis pigmentosa Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA226236	rs_61755785	7 SubmittersRCV000084973 RCV001315051 RCV003238719 RCV004815032
NM_000322.5(PRPH2):c.469G>A (p.Asp157Asn)	SNV Germline	Chr6:42721866	Pathogenic/Likely pathogenic	Condition: not provided Blurred vision Pigmentary retinopathy Macular degeneration Abnormal retinal pigmentation Retinal dystrophy Stargardt disease Pigmentary retinal dystrophy PRPH2-related disorder Retinitis pigmentosa	Criteria Provided Multiple Submitters No Conflicts	CA226238	rs_61755787	7 SubmittersRCV000084975 RCV000626661 RCV001074377 RCV001250326 RCV001270171 RCV001378482 RCV001250327
NM_000322.5(PRPH2):c.494G>A (p.Cys165Tyr)	SNV Germline	Chr6:42721841	Pathogenic	Condition: not provided PRPH2-related disorder	Criteria Provided Single Submitter	CA226240	rs_61755788	3 SubmittersRCV000084976 RCV001388978
NM_000322.5(PRPH2):c.514C>G (p.Arg172Gly)	SNV Germline	Chr6:42721821	Likely pathogenic	Condition: not provided	No Assertion Criteria Provided	CA226246	rs_61755792	2 SubmittersRCV000084980
NM_000322.5(PRPH2):c.533A>G (p.Gln178Arg)	SNV Germline	Chr6:42721802	Conflicting classifications of pathogenicity	Condition: not provided PRPH2-related disorder Retinitis pigmentosa 7 Choroidal dystrophy, central areolar 2	Criteria Provided Conflicting Classifications	CA226250	rs_61755795	5 SubmittersRCV000084984 RCV001854488 RCV005234980 RCV005252746
NM_000322.5(PRPH2):c.535T>C (p.Trp179Arg)	SNV Germline	Chr6:42721800	Pathogenic/Likely pathogenic	Condition: not provided Retinitis pigmentosa PRPH2-related disorder Retinitis pigmentosa 7	Criteria Provided Multiple Submitters No Conflicts	CA226252	rs_61755796	5 SubmittersRCV000084985 RCV001250370 RCV002514515 RCV005252747
NM_000322.5(PRPH2):c.589A>G (p.Lys197Glu)	SNV Germline	Chr6:42704604	Pathogenic/Likely pathogenic	Condition: not provided PRPH2-related disorder Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA226259	rs_62645931	6 SubmittersRCV000084991 RCV002514516 RCV003888457
NM_000322.5(PRPH2):c.599T>A (p.Val200Glu)	SNV Germline	Chr6:42704594	Likely pathogenic	Condition: not provided	No Assertion Criteria Provided	CA226261	rs_62645932	2 SubmittersRCV000084992
NM_000322.5(PRPH2):c.628C>T (p.Pro210Ser)	SNV Germline	Chr6:42704565	Pathogenic/Likely pathogenic	Condition: not provided Vitelliform macular dystrophy 2 PRPH2-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA226267	rs_61755797	6 SubmittersRCV000084996 RCV000787666 RCV001381220
NM_000322.5(PRPH2):c.629C>T (p.Pro210Leu)	SNV Germline	Chr6:42704564	Pathogenic/Likely pathogenic	Condition: not provided PRPH2-related disorder Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA226269	rs_61755798	5 SubmittersRCV000084998 RCV001381219 RCV003888458
NM_000322.5(PRPH2):c.633C>A (p.Phe211Leu)	SNV Germline	Chr6:42704560	Pathogenic	Condition: not provided PRPH2-related disorder	Criteria Provided Single Submitter	CA226271	rs_61755799	6 SubmittersRCV000084999 RCV001854490
NM_000322.5(PRPH2):c.634A>G (p.Ser212Gly)	SNV Germline	Chr6:42704559	Pathogenic/Likely pathogenic	Condition: not provided Retinitis pigmentosa PRPH2-related disorder Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA226273	rs_61755800	8 SubmittersRCV000085000 RCV000504657 RCV001854491 RCV003888459
NM_000322.5(PRPH2):c.635G>C (p.Ser212Thr)	SNV Germline	Chr6:42704558	Pathogenic/Likely pathogenic	Condition: not provided Patterned macular dystrophy 1 Retinal dystrophy Vitelliform macular dystrophy 2 Adult-onset foveomacular vitelliform dystrophy PRPH2-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA226275	rs_61755801	9 SubmittersRCV000085001 RCV000987696 RCV001075498 RCV001250290 RCV004799664 RCV001857416
NM_000322.5(PRPH2):c.637T>C (p.Cys213Arg)	SNV Germline	Chr6:42704556	Pathogenic	Condition: not provided Leber congenital amaurosis 18 Patterned macular dystrophy 1 PRPH2-related disorder	Criteria Provided Single Submitter	CA174960	rs_61755802	4 SubmittersRCV000085002 RCV000149469 RCV000149468 RCV001854492
NM_000322.5(PRPH2):c.638G>A (p.Cys213Tyr)	SNV Germline	Chr6:42704555	Pathogenic/Likely pathogenic	PRPH2-related disorder Retinal dystrophy Stargardt disease Patterned macular dystrophy 1 Retinal disorder Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA226277	rs_61755803	7 SubmittersRCV001052017 RCV001074371 RCV001250308 RCV001542667 RCV006555437 RCV000085003
NM_000322.5(PRPH2):c.641G>A (p.Cys214Tyr)	SNV Germline	Chr6:42704552	Pathogenic	Condition: not provided PRPH2-related disorder	Criteria Provided Single Submitter	CA226279	rs_61755804	3 SubmittersRCV000085004 RCV005089562
NM_000322.5(PRPH2):c.641G>C (p.Cys214Ser)	SNV Germline	Chr6:42704552	Pathogenic	Condition: not provided	No Assertion Criteria Provided	CA226281	rs_61755804	2 SubmittersRCV000085005
NM_000322.5(PRPH2):c.646C>T (p.Pro216Ser)	SNV Germline	Chr6:42704547	Pathogenic/Likely pathogenic	Retinitis pigmentosa PRPH2-related disorder Retinal dystrophy Retinal disorder Retinitis pigmentosa 7 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA226283	rs_61755805	12 SubmittersRCV000787871 RCV001058357 RCV004815033 RCV006253789 RCV006695552 RCV000085006
NM_000322.5(PRPH2):c.656C>G (p.Pro219Arg)	SNV Germline	Chr6:42704537	Conflicting classifications of pathogenicity	Condition: not provided PRPH2-related disorder Retinal dystrophy	Criteria Provided Conflicting Classifications	CA226287	rs_61755808	4 SubmittersRCV000085008 RCV005089563 RCV004815034
NM_000322.5(PRPH2):c.658C>T (p.Arg220Trp)	SNV Germline	Chr6:42704535	Conflicting classifications of pathogenicity	Condition: not provided Macular dystrophy Retinal dystrophy PRPH2-related disorder Patterned dystrophy of the retinal pigment epithelium Vitelliform macular dystrophy 3	Criteria Provided Conflicting Classifications	CA226291	rs_61755809	11 SubmittersRCV000085010 RCV000787873 RCV001075102 RCV001247286 RCV001250379 RCV002288583
NM_000322.5(PRPH2):c.659G>A (p.Arg220Gln)	SNV Germline	Chr6:42704534	Pathogenic/Likely pathogenic	Condition: not provided Retinitis pigmentosa Retinal dystrophy PRPH2-related disorder Retinal disorder Macular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA226293	rs_61755810	10 SubmittersRCV000085011 RCV001003141 RCV001075618 RCV001346727 RCV006634823 RCV004798773
NM_000322.5(PRPH2):c.708C>T (p.Tyr236=)	SNV Germline	Chr6:42704485	Conflicting classifications of pathogenicity	Patterned macular dystrophy 1 Cone-rod dystrophy Retinitis pigmentosa Pigmentary retinal dystrophy Choroidal dystrophy, central areolar 2 Adult-onset foveomacular vitelliform dystrophy PRPH2-related disorder not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA226298	rs_61755813	7 SubmittersRCV001164887 RCV001164886 RCV001159969 RCV001164883 RCV001164884 RCV001164885 RCV001439459 RCV001530323 RCV000085014
NM_000322.5(PRPH2):c.715C>T (p.Gln239Ter)	SNV Germline	Chr6:42704478	Pathogenic	Condition: not provided Macular dystrophy Stargardt disease PRPH2-related disorder Patterned dystrophy of the retinal pigment epithelium Retinal dystrophy Choroidal dystrophy, central areolar 2	Criteria Provided Multiple Submitters No Conflicts	CA226300	rs_61755814	10 SubmittersRCV000085015 RCV000787668 RCV001250335 RCV001386136 RCV001250336 RCV004815035 RCV004760371
NM_000322.5(PRPH2):c.730A>C (p.Asn244His)	SNV Germline	Chr6:42704463	Pathogenic	Condition: not provided Retinal dystrophy	Criteria Provided Single Submitter	CA226302	rs_61755815	3 SubmittersRCV000085016 RCV003888460
NM_000322.5(PRPH2):c.732C>G (p.Asn244Lys)	SNV Germline	Chr6:42704461	Pathogenic/Likely pathogenic	Condition: not provided Retinitis pigmentosa	No Assertion Criteria Provided	CA226306	rs_61755816	3 SubmittersRCV000085018 RCV001003139
NM_000322.5(PRPH2):c.736T>C (p.Trp246Arg)	SNV Germline	Chr6:42704457	Likely pathogenic	Condition: not provided Retinitis pigmentosa Vitelliform macular dystrophy 3	Criteria Provided Single Submitter	CA226307	rs_61755817	5 SubmittersRCV000085019 RCV000132580 RCV003114252
NM_000322.5(PRPH2):c.797G>A (p.Gly266Asp)	SNV Germline	Chr6:42704396	Pathogenic/Likely pathogenic	Condition: not provided Retinitis pigmentosa 7 PRPH2-related disorder Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA226312	rs_62645935	8 SubmittersRCV000085022 RCV001705814 RCV002514517 RCV004815036
NM_000322.5(PRPH2):c.802G>A (p.Val268Ile)	SNV Germline	Chr6:42704391	Conflicting classifications of pathogenicity	Condition: not provided PRPH2-related disorder Retinal dystrophy	Criteria Provided Conflicting Classifications	CA226314	rs_62645936	5 SubmittersRCV000085023 RCV003591677 RCV004815037
NM_000322.5(PRPH2):c.80C>T (p.Ser27Phe)	SNV Germline	Chr6:42722255	Pathogenic/Likely pathogenic	Condition: not provided Retinal dystrophy PRPH2-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA226316	rs_61755766	5 SubmittersRCV000085024 RCV001074280 RCV001043298
NM_000322.5(PRPH2):c.828+3A>T	SNV Germline	Chr6:42704362	Pathogenic	PRPH2-related disorder Retinal dystrophy Choroideremia Cone-rod dystrophy Retinitis pigmentosa Stargardt disease Doyne honeycomb retinal dystrophy Patterned dystrophy of the retinal pigment epithelium Vitelliform macular dystrophy 2 Patterned macular dystrophy 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA226319	rs_281865373	10 SubmittersRCV001047656 RCV001073686 RCV001250345 RCV001250359 RCV001250357 RCV001250344 RCV001250358 RCV001250346 RCV001250347 RCV001542666 RCV000085026
NM_000322.5(PRPH2):c.855C>A (p.Tyr285Ter)	SNV Germline	Chr6:42698481	Pathogenic	Condition: not provided PRPH2-related disorder	Criteria Provided Single Submitter	CA226320	rs_62645938	3 SubmittersRCV000085027 RCV001854493
NM_000322.5(PRPH2):c.866C>T (p.Ser289Leu)	SNV Germline	Chr6:42698470	Conflicting classifications of pathogenicity	Condition: not provided Retinitis pigmentosa Stargardt disease PRPH2-related disorder Retinal dystrophy Retinitis pigmentosa 7 Pigmentary retinal dystrophy Patterned macular dystrophy 1 Vitelliform macular dystrophy 3 Choroidal dystrophy, central areolar 2	Criteria Provided Conflicting Classifications	CA226322	rs_62645939	11 SubmittersRCV000085028 RCV001161271 RCV001250360 RCV001438086 RCV004815038 RCV005394359
NM_000322.5(PRPH2):c.904G>T (p.Glu302Ter)	SNV Germline	Chr6:42698432	Pathogenic/Likely pathogenic	Condition: not provided Vitelliform macular dystrophy 2 Adult-onset foveomacular vitelliform dystrophy Retinal dystrophy Vitelliform macular dystrophy 3	Criteria Provided Multiple Submitters No Conflicts	CA226324	rs_61748430	5 SubmittersRCV000085030 RCV001199527 RCV001253500 RCV004815039 RCV006252436
NM_000322.5(PRPH2):c.914G>A (p.Gly305Asp)	SNV Germline	Chr6:42698422	Conflicting classifications of pathogenicity	Condition: not provided PRPH2-related disorder not specified Choroidal dystrophy, central areolar 2	Criteria Provided Conflicting Classifications	CA226326	rs_61748432	5 SubmittersRCV000085031 RCV001857417 RCV002247484 RCV003324505
NM_000322.5(PRPH2):c.938C>T (p.Pro313Leu)	SNV Germline	Chr6:42698398	Conflicting classifications of pathogenicity	Condition: not provided Adult-onset foveomacular vitelliform dystrophy Patterned macular dystrophy 1 Pigmentary retinal dystrophy Cone-rod dystrophy Choroidal dystrophy, central areolar 2 PRPH2-related disorder Retinitis pigmentosa Stargardt disease Patterned dystrophy of the retinal pigment epithelium Retinal dystrophy	Criteria Provided Conflicting Classifications	CA226331	rs_61748434	9 SubmittersRCV000085034 RCV000261808 RCV000298015 RCV000356624 RCV000406549 RCV000301680 RCV001066591 RCV000787872 RCV001250365 RCV001250366 RCV004815041
NM_000322.5(PRPH2):c.94A>G (p.Ile32Val)	SNV Germline	Chr6:42722241	Conflicting classifications of pathogenicity	Condition: not provided Stargardt disease Vitelliform macular dystrophy 3 PRPH2-related disorder not specified Retinal dystrophy Optic atrophy Retinitis pigmentosa 7 Pigmentary retinal dystrophy Patterned macular dystrophy 1 Choroidal dystrophy, central areolar 2 Vitelliform macular dystrophy 3	Criteria Provided Conflicting Classifications	CA226333	rs_61755767	9 SubmittersRCV000085036 RCV001250380 RCV001352968 RCV001462596 RCV001530276 RCV003888461 RCV004815042 RCV005394360
NM_000322.5(PRPH2):c.991C>T (p.Gln331Ter)	SNV Germline	Chr6:42698345	Pathogenic	Condition: not provided PRPH2-related disorder	Criteria Provided Single Submitter	CA226336	rs_281865375	3 SubmittersRCV000085038 RCV001854494
NM_000322.5(PRPH2):c.410G>A (p.Gly137Asp)	SNV Germline	Chr6:42721925	Pathogenic/Likely pathogenic	Retinitis pigmentosa PRPH2-related disorder Condition: not provided Retinal dystrophy Retinitis pigmentosa 7	Criteria Provided Multiple Submitters No Conflicts	CA270013	rs_527236097	5 SubmittersRCV000132578 RCV001388979 RCV001530286 RCV001074625 RCV005252764
NM_000322.5(PRPH2):c.499G>A (p.Gly167Ser)	SNV Germline	Chr6:42721836	Pathogenic/Likely pathogenic	Retinitis pigmentosa Condition: not provided PRPH2-related disorder Retinal dystrophy Stargardt disease	Criteria Provided Multiple Submitters No Conflicts	CA270015	rs_527236098	11 SubmittersRCV000132579 RCV000438661 RCV001055454 RCV001073378 RCV001250331
NM_000322.5(PRPH2):c.497G>A (p.Cys166Tyr)	SNV Germline	Chr6:42721838	Conflicting classifications of pathogenicity	Condition: not provided Retinal dystrophy PRPH2-related disorder	Criteria Provided Conflicting Classifications	CA236256	rs_786205579	5 SubmittersRCV000171395 RCV001073434 RCV002517650
NM_000322.5(PRPH2):c.725A>G (p.Glu242Gly)	SNV Germline	Chr6:42704468	Conflicting classifications of pathogenicity	Condition: not provided Stargardt disease PRPH2-related disorder Usher syndrome	Criteria Provided Conflicting Classifications	CA241332	rs_542296728	6 SubmittersRCV000175581 RCV001250337 RCV001463523 RCV003389460
NM_000322.5(PRPH2):c.801C>T (p.Val267=)	SNV Germline	Chr6:42704392	Conflicting classifications of pathogenicity	not specified Retinitis pigmentosa Pigmentary retinal dystrophy Patterned macular dystrophy 1 Choroidal dystrophy, central areolar 2 Cone-rod dystrophy Adult-onset foveomacular vitelliform dystrophy Condition: not provided	Criteria Provided Conflicting Classifications	CA3808535	rs_189358082	3 SubmittersRCV000248113 RCV000281424 RCV000315389 RCV000336463 RCV000369961 RCV000406240 RCV000391588 RCV000945845
NM_000322.5(PRPH2):c.367C>T (p.Arg123Trp)	SNV Germline	Chr6:42721968	Conflicting classifications of pathogenicity	Condition: not provided PRPH2-related disorder Pigmentary retinal dystrophy Cone-rod dystrophy Patterned macular dystrophy 1 Retinitis pigmentosa Adult-onset foveomacular vitelliform dystrophy Choroidal dystrophy, central areolar 2 Retinitis pigmentosa 7 Retinal dystrophy	Criteria Provided Conflicting Classifications	CA3808629	rs_563581127	7 SubmittersRCV000403427 RCV000791184 RCV001165011 RCV001165012 RCV001165007 RCV001165008 RCV001165009 RCV001165010 RCV004720250 RCV004816502
NM_000322.5(PRPH2):c.*1687C>T	SNV Germline	Chr6:42696608	Conflicting classifications of pathogenicity	Cone-rod dystrophy Patterned macular dystrophy 1 Retinitis pigmentosa Adult-onset foveomacular vitelliform dystrophy Choroidal dystrophy, central areolar 2 Pigmentary retinal dystrophy	Criteria Provided Conflicting Classifications	CA10623892	rs_139177846	1 SubmittersRCV000265951 RCV000288235 RCV000324365 RCV000328104 RCV000358091 RCV000384861
NM_000322.5(PRPH2):c.*797G>A	SNV Germline	Chr6:42697498	Conflicting classifications of pathogenicity	Adult-onset foveomacular vitelliform dystrophy Cone-rod dystrophy Choroidal dystrophy, central areolar 2 Patterned macular dystrophy 1 Pigmentary retinal dystrophy Retinitis pigmentosa	Criteria Provided Conflicting Classifications	CA10623927	rs_188694434	1 SubmittersRCV000282855 RCV000289095 RCV000323813 RCV000344096 RCV000378833 RCV000384684
NM_000322.5(PRPH2):c.1008C>T (p.Gly336=)	SNV Germline	Chr6:42698328	Conflicting classifications of pathogenicity	Patterned macular dystrophy 1 Choroidal dystrophy, central areolar 2 Adult-onset foveomacular vitelliform dystrophy Retinitis pigmentosa Pigmentary retinal dystrophy Cone-rod dystrophy PRPH2-related disorder Retinal dystrophy	Criteria Provided Conflicting Classifications	CA3808464	rs_752365478	3 SubmittersRCV000290210 RCV000305394 RCV000341580 RCV000345147 RCV000376706 RCV000407997 RCV001424704 RCV004816605
NM_000322.5(PRPH2):c.252C>T (p.Asp84=)	SNV Germline	Chr6:42722083	Conflicting classifications of pathogenicity	Patterned macular dystrophy 1 Cone-rod dystrophy Adult-onset foveomacular vitelliform dystrophy Pigmentary retinal dystrophy Choroidal dystrophy, central areolar 2 Retinitis pigmentosa PRPH2-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA3808644	rs_139936445	3 SubmittersRCV000265544 RCV000305456 RCV000301917 RCV000356577 RCV000360203 RCV000403799 RCV001484194 RCV003422345
NM_000322.5(PRPH2):c.*1565G>A	SNV Germline	Chr6:42696730	Conflicting classifications of pathogenicity	Adult-onset foveomacular vitelliform dystrophy Cone-rod dystrophy Retinitis pigmentosa Choroidal dystrophy, central areolar 2 Patterned macular dystrophy 1 Pigmentary retinal dystrophy Condition: not provided	Criteria Provided Conflicting Classifications	CA10626750	rs_41273818	2 SubmittersRCV000304416 RCV000303237 RCV000334298 RCV000361524 RCV000395085 RCV000406284 RCV003311779
NM_000322.5(PRPH2):c.*20C>T	SNV Germline	Chr6:42698275	Conflicting classifications of pathogenicity	Adult-onset foveomacular vitelliform dystrophy Patterned macular dystrophy 1 Retinitis pigmentosa Choroidal dystrophy, central areolar 2 Pigmentary retinal dystrophy Cone-rod dystrophy	Criteria Provided Conflicting Classifications	CA3808450	rs_180775924	1 SubmittersRCV000301789 RCV000305101 RCV000336826 RCV000340291 RCV000393145 RCV000403264
NM_000322.5(PRPH2):c.649A>G (p.Ser217Gly)	SNV Germline	Chr6:42704544	Conflicting classifications of pathogenicity	Patterned dystrophy of the retinal pigment epithelium PRPH2-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA3808563	rs_767471467	3 SubmittersRCV001250375 RCV001318786 RCV001530369
NM_000322.5(PRPH2):c.312C>T (p.Ile104=)	SNV Germline	Chr6:42722023	Conflicting classifications of pathogenicity	Adult-onset foveomacular vitelliform dystrophy Pigmentary retinal dystrophy Patterned macular dystrophy 1 Cone-rod dystrophy Choroidal dystrophy, central areolar 2 Retinitis pigmentosa PRPH2-related disorder Retinal dystrophy	Criteria Provided Conflicting Classifications	CA3808636	rs_200009675	3 SubmittersRCV000295006 RCV000309085 RCV000349955 RCV000363735 RCV000406712 RCV000406713 RCV002058610 RCV003888843
NM_000322.5(PRPH2):c.748T>A (p.Cys250Ser)	SNV Germline	Chr6:42704445	Pathogenic/Likely pathogenic	Condition: not provided Stargardt disease PRPH2-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA16618285	rs_1064793931	4 SubmittersRCV000479139 RCV001250338 RCV002525801
NM_000322.5(PRPH2):c.522G>C (p.Trp174Cys)	SNV Germline	Chr6:42721813	Conflicting classifications of pathogenicity	Condition: not provided Retinal dystrophy Retinitis pigmentosa	Criteria Provided Conflicting Classifications	CA16618286	rs_1064793237	4 SubmittersRCV000479816 RCV001075073 RCV001250369
NM_000322.5(PRPH2):c.425G>A (p.Arg142Gln)	SNV Germline	Chr6:42721910	Conflicting classifications of pathogenicity	Condition: not provided PRPH2-related disorder Stargardt disease	Criteria Provided Conflicting Classifications	CA3808615	rs_554945964	4 SubmittersRCV000486555 RCV001302351 RCV001250321
NM_000322.5(PRPH2):c.303C>G (p.Tyr101Ter)	SNV Germline	Chr6:42722032	Pathogenic	Condition: not provided Retinitis pigmentosa	Criteria Provided Multiple Submitters No Conflicts	CA16618287	rs_61755776	3 SubmittersRCV000482305 RCV001250297
NM_000322.5(PRPH2):c.653C>T (p.Ser218Leu)	SNV Germline	Chr6:42704540	Conflicting classifications of pathogenicity	Condition: not provided Stargardt disease Isolated macular dystrophy PRPH2-related disorder Vitelliform macular dystrophy 3	Criteria Provided Conflicting Classifications	CA16621838	rs_986748364	4 SubmittersRCV000487688 RCV001199524 RCV001199528 RCV002526003 RCV006695608
NM_000322.5(PRPH2):c.587T>A (p.Ile196Asn)	SNV Germline	Chr6:42704606	Likely pathogenic	Condition: not provided Cone-rod dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA364135864	rs_1131691378	3 SubmittersRCV000493047 RCV001250277
NM_000322.5(PRPH2):c.664T>C (p.Cys222Arg)	SNV Germline	Chr6:42704529	Pathogenic	Retinal dystrophy Retinitis pigmentosa PRPH2-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA364135451	rs_1554269053	4 SubmittersRCV000504883 RCV001003140 RCV002524400
NM_000322.5(PRPH2):c.625G>T (p.Val209Phe)	SNV Germline	Chr6:42704568	Pathogenic/Likely pathogenic	Macular dystrophy Condition: not provided	No Assertion Criteria Provided	CA364135650	rs_753657349	2 SubmittersRCV000505051 RCV001530313
NM_000322.5(PRPH2):c.623G>A (p.Gly208Asp)	SNV Germline	Chr6:42704570	Conflicting classifications of pathogenicity	Macular dystrophy Retinal dystrophy Patterned macular dystrophy 1 PRPH2-related disorder Stargardt disease Condition: not provided Pigmentary retinal dystrophy Choroidal dystrophy, central areolar 2 Retinitis pigmentosa 40	Criteria Provided Conflicting Classifications	CA3808568	rs_139185976	13 SubmittersRCV000504827 RCV001074827 RCV000787665 RCV001051123 RCV001250285 RCV001530240 RCV002248741 RCV004787813 RCV006707682
NM_000322.5(PRPH2):c.636C>G (p.Ser212Arg)	SNV Germline	Chr6:42704557	Pathogenic	Adult-onset foveomacular vitelliform dystrophy PRPH2-related disorder	Criteria Provided Single Submitter	CA364135600	rs_1554269071	2 SubmittersRCV000505604 RCV003757183
NM_000322.5(PRPH2):c.948G>A (p.Trp316Ter)	SNV Germline	Chr6:42698388	Pathogenic/Likely pathogenic	Condition: not provided PRPH2-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA364132977	rs_1554268521	4 SubmittersRCV000585391 RCV001867900
NM_000322.5(PRPH2):c.692C>A (p.Ser231Ter)	SNV Germline	Chr6:42704501	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA364135287	rs_1554269046	1 SubmittersRCV000584864
NM_000322.5(PRPH2):c.888C>T (p.Pro296=)	SNV Germline	Chr6:42698448	Conflicting classifications of pathogenicity	Condition: not provided Pigmentary retinal dystrophy Adult-onset foveomacular vitelliform dystrophy Retinitis pigmentosa Choroidal dystrophy, central areolar 2 PRPH2-related disorder Patterned macular dystrophy 1 Cone-rod dystrophy	Criteria Provided Conflicting Classifications	CA3808492	rs_183714869	3 SubmittersRCV000594269 RCV001161265 RCV001161266 RCV001161268 RCV001161270 RCV001468812 RCV001161267 RCV001161269
NM_000322.5(PRPH2):c.612C>G (p.Tyr204Ter)	SNV Germline	Chr6:42704581	Pathogenic	Condition: not provided Retinitis pigmentosa Retinal dystrophy PRPH2-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA364135722	rs_1554269081	6 SubmittersRCV000627208 RCV001003144 RCV001074257 RCV001389850
NM_000322.5(PRPH2):c.584G>A (p.Arg195Gln)	SNV Germline	Chr6:42704609	Pathogenic/Likely pathogenic	Cone-rod dystrophy Patterned macular dystrophy 1 PRPH2-related disorder Patterned dystrophy of the retinal pigment epithelium Condition: not provided Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA364135876	rs_121918567	6 SubmittersRCV000761334 RCV000987697 RCV001047360 RCV001250356 RCV001530357 RCV004817971
NM_000322.5(PRPH2):c.676C>T (p.Gln226Ter)	SNV Germline	Chr6:42704517	Pathogenic	Retinitis pigmentosa Condition: not provided Retinal dystrophy PRPH2-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA364135378	rs_61755811	4 SubmittersRCV000787667 RCV001530251 RCV004818011 RCV006464235
NM_000322.5(PRPH2):c.478C>T (p.Gln160Ter)	SNV Germline	Chr6:42721857	Likely pathogenic	Retinal dystrophy Stargardt disease Condition: not provided	Criteria Provided Single Submitter	CA364137468	rs_1582780550	3 SubmittersRCV000787662 RCV001250328 RCV001530345
NM_000322.5(PRPH2):c.995T>A (p.Val332Glu)	SNV Germline	Chr6:42698341	Conflicting classifications of pathogenicity	Macular dystrophy PRPH2-related disorder Cone-rod dystrophy Condition: not provided Vitelliform macular dystrophy 3	Criteria Provided Conflicting Classifications	CA364132724	rs_1582759492	5 SubmittersRCV000787868 RCV001248001 RCV001250383 RCV001530393 RCV006704866
NM_000322.5(PRPH2):c.652T>C (p.Ser218Pro)	SNV Germline	Chr6:42704541	Pathogenic	Retinitis pigmentosa Condition: not provided PRPH2-related disorder	Criteria Provided Single Submitter	CA364135508	rs_1582764878	3 SubmittersRCV000787870 RCV001530370 RCV001869193
NM_000322.5(PRPH2):c.483C>G (p.Ile161Met)	SNV Germline	Chr6:42721852	Conflicting classifications of pathogenicity	PRPH2-related disorder Stargardt disease Condition: not provided	Criteria Provided Conflicting Classifications	CA3808606	rs_76989855	5 SubmittersRCV000878664 RCV001250329 RCV001530346
NM_000322.5(PRPH2):c.829-4C>G	SNV Germline	Chr6:42698511	Pathogenic	Patterned macular dystrophy 1 PRPH2-related disorder Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA915944250	rs_1582759785	3 SubmittersRCV000987694 RCV001039037 RCV001530261
NM_000322.5(PRPH2):c.737G>A (p.Trp246Ter)	SNV Unknown	Chr6:42704456	Pathogenic	Patterned macular dystrophy 1	Criteria Provided Single Submitter	CA364135041	rs_1582764697	1 SubmittersRCV000987695
NM_000322.5(PRPH2):c.227C>A (p.Ser76Ter)	SNV Germline	Chr6:42722108	Pathogenic	Patterned macular dystrophy 1 PRPH2-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA364138254	rs_1203908646	2 SubmittersRCV000987698 RCV002550603
NM_000322.5(PRPH2):c.927G>T (p.Glu309Asp)	SNV Germline	Chr6:42698409	Conflicting classifications of pathogenicity	Retinitis pigmentosa Condition: not provided PRPH2-related disorder Patterned macular dystrophy 1 Choroidal dystrophy, central areolar 2 Retinitis pigmentosa 7 Pigmentary retinal dystrophy Vitelliform macular dystrophy 3 Retinal dystrophy Retinitis pigmentosa 7 Pigmentary retinal dystrophy	Criteria Provided Conflicting Classifications	CA3808480	rs_759011231	7 SubmittersRCV001003136 RCV001530337 RCV001860530 RCV005394618 RCV004818142 RCV006249387
NM_000322.5(PRPH2):c.794T>G (p.Met265Arg)	SNV Germline	Chr6:42704399	Likely pathogenic	Patterned macular dystrophy 1 Condition: not provided	No Assertion Criteria Provided	CA364134729	rs_1582764600	2 SubmittersRCV001003138 RCV001530384
NM_000322.5(PRPH2):c.594C>G (p.Ser198Arg)	SNV Germline	Chr6:42704599	Pathogenic/Likely pathogenic	Retinitis pigmentosa Condition: not provided	No Assertion Criteria Provided	CA364135819	rs_375978676	2 SubmittersRCV001003145 RCV001530230
NM_000322.5(PRPH2):c.518A>C (p.Asp173Ala)	SNV Germline	Chr6:42721817	Pathogenic/Likely pathogenic	Retinitis pigmentosa PRPH2-related disorder Condition: not provided Retinitis pigmentosa 7	Criteria Provided Multiple Submitters No Conflicts	CA364137383	rs_61755794	4 SubmittersRCV001003146 RCV001379736 RCV001530227 RCV002250712
NM_000322.5(PRPH2):c.738G>A (p.Trp246Ter)	SNV Germline	Chr6:42704455	Pathogenic	Condition: not provided Cone-rod dystrophy PRPH2-related disorder Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA364135033	rs_1800111659	4 SubmittersRCV001093084 RCV001199526 RCV002551709 RCV004818152
NM_000322.5(PRPH2):c.653C>A (p.Ser218Ter)	SNV Germline	Chr6:42704540	Pathogenic/Likely pathogenic	Retinal dystrophy Condition: not provided Retinitis pigmentosa PRPH2-related disorder Patterned dystrophy of the retinal pigment epithelium	Criteria Provided Multiple Submitters No Conflicts	CA364135499	rs_986748364	7 SubmittersRCV001073873 RCV001093085 RCV001199523 RCV001202274 RCV001250377
NM_000322.5(PRPH2):c.582-1G>C	SNV Germline	Chr6:42704612	Pathogenic	Condition: not provided Vitelliform macular dystrophy 2	Criteria Provided Multiple Submitters No Conflicts	CA364135894	rs_1800118693	2 SubmittersRCV001093086 RCV001199529
NM_000322.5(PRPH2):c.273T>A (p.Tyr91Ter)	SNV Germline	Chr6:42722062	Pathogenic	Central areolar choroidal dystrophy	Criteria Provided Single Submitter	CA364138058	rs_1761914145	1 SubmittersRCV001199520
NM_000322.5(PRPH2):c.683C>T (p.Thr228Ile)	SNV Germline	Chr6:42704510	Likely pathogenic	PRPH2-related disorder Patterned dystrophy of the retinal pigment epithelium Stargardt disease Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA3808552	rs_369507460	3 SubmittersRCV001051591 RCV001250315 RCV001250332 RCV001530252
NM_000322.5(PRPH2):c.659G>C (p.Arg220Pro)	SNV Germline	Chr6:42704534	Pathogenic/Likely pathogenic	PRPH2-related disorder Patterned dystrophy of the retinal pigment epithelium Retinitis pigmentosa Condition: not provided Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA364135472	rs_61755810	4 SubmittersRCV001067304 RCV001250312 RCV001250311 RCV001530244 RCV004813695
NM_000322.5(PRPH2):c.646C>G (p.Pro216Ala)	SNV Germline	Chr6:42704547	Pathogenic/Likely pathogenic	PRPH2-related disorder Retinal dystrophy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA364135543	rs_61755805	4 SubmittersRCV001046921 RCV001074972 RCV001530366
NM_000322.5(PRPH2):c.622G>A (p.Gly208Ser)	SNV Germline	Chr6:42704571	Likely pathogenic	PRPH2-related disorder	Criteria Provided Single Submitter	CA138171873	rs_901479607	1 SubmittersRCV001067892
NM_000322.5(PRPH2):c.454A>G (p.Met152Val)	SNV Germline	Chr6:42721881	Conflicting classifications of pathogenicity	PRPH2-related disorder Retinitis pigmentosa Pigmentary retinal dystrophy Choroidal dystrophy, central areolar 2 Patterned macular dystrophy 1 Adult-onset foveomacular vitelliform dystrophy Cone-rod dystrophy Condition: not provided Retinal dystrophy	Criteria Provided Conflicting Classifications	CA3808609	rs_146703538	5 SubmittersRCV001050346 RCV001161384 RCV001161386 RCV001162922 RCV001162924 RCV001161385 RCV001162923 RCV001530339 RCV003890189
NM_000322.5(PRPH2):c.290G>A (p.Trp97Ter)	SNV Germline	Chr6:42722045	Pathogenic	PRPH2-related disorder	Criteria Provided Single Submitter	CA364137994	rs_1761913693	1 SubmittersRCV001067713
NM_000322.5(PRPH2):c.771C>G (p.Tyr257Ter)	SNV Germline	Chr6:42704422	Pathogenic/Likely pathogenic	Retinal dystrophy Condition: not provided PRPH2-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA364134862	rs_1800110757	3 SubmittersRCV001075111 RCV001530380 RCV003757215
NM_000322.5(PRPH2):c.749G>T (p.Cys250Phe)	SNV Germline	Chr6:42704444	Pathogenic/Likely pathogenic	Retinal dystrophy Condition: not provided PRPH2-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA364134976	rs_1458793437	3 SubmittersRCV001073397 RCV001530374 RCV006465297
NM_000322.5(PRPH2):c.708C>G (p.Tyr236Ter)	SNV Germline	Chr6:42704485	Pathogenic/Likely pathogenic	Retinal dystrophy Patterned dystrophy of the retinal pigment epithelium Stargardt disease Condition: not provided PRPH2-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA364135198	rs_61755813	5 SubmittersRCV001075315 RCV001250333 RCV001250334 RCV001530324 RCV001386137
NM_000322.5(PRPH2):c.665G>T (p.Cys222Phe)	SNV Germline	Chr6:42704528	Likely pathogenic	Retinal dystrophy	Criteria Provided Single Submitter	CA364135442	rs_1442844778	1 SubmittersRCV001073235
NM_000322.5(PRPH2):c.665G>C (p.Cys222Ser)	SNV Germline	Chr6:42704528	Conflicting classifications of pathogenicity	Retinal dystrophy Condition: not provided PRPH2-related disorder	Criteria Provided Conflicting Classifications	CA364135444	rs_1442844778	4 SubmittersRCV001075398 RCV001530248 RCV001386138
NM_000322.5(PRPH2):c.665G>A (p.Cys222Tyr)	SNV Germline	Chr6:42704528	Conflicting classifications of pathogenicity	Retinal dystrophy PRPH2-related disorder Stargardt disease Condition: not provided	Criteria Provided Conflicting Classifications	CA364135446	rs_1442844778	4 SubmittersRCV001075038 RCV001228233 RCV001250313 RCV001530249
NM_000322.5(PRPH2):c.537G>T (p.Trp179Cys)	SNV Germline	Chr6:42721798	Pathogenic/Likely pathogenic	Retinal dystrophy PRPH2-related disorder Patterned dystrophy of the retinal pigment epithelium Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA3808597	rs_779414078	5 SubmittersRCV001075367 RCV001213611 RCV001250371 RCV001530303
NM_000322.5(PRPH2):c.518A>G (p.Asp173Gly)	SNV Germline	Chr6:42721817	Likely pathogenic	Retinal dystrophy PRPH2-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA364137382	rs_61755794	2 SubmittersRCV001074888 RCV006612592
NM_000322.5(PRPH2):c.476T>G (p.Leu159Arg)	SNV Germline	Chr6:42721859	Conflicting classifications of pathogenicity	Retinal dystrophy PRPH2-related disorder	Criteria Provided Conflicting Classifications	CA364137471	rs_1761907993	2 SubmittersRCV001075561 RCV001213778
NM_000322.5(PRPH2):c.246C>A (p.Cys82Ter)	SNV Germline	Chr6:42722089	Pathogenic/Likely pathogenic	Retinal dystrophy Stargardt disease Condition: not provided PRPH2-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA364138153	rs_1242862941	4 SubmittersRCV001073624 RCV001250293 RCV001530300 RCV001862510
NM_000322.5(PRPH2):c.28C>T (p.Gln10Ter)	SNV Germline	Chr6:42722307	Likely pathogenic	Retinal dystrophy	Criteria Provided Single Submitter	CA364138925	rs_1761921113	1 SubmittersRCV001073237
NM_000322.5(PRPH2):c.581+1G>A	SNV Germline	Chr6:42721753	Pathogenic/Likely pathogenic	Retinal dystrophy Condition: not provided PRPH2-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA364137089	rs_1761904690	5 SubmittersRCV001074831 RCV001530310 RCV001862577
NM_000322.5(PRPH2):c.*1079G>A	SNV Germline	Chr6:42697216	Conflicting classifications of pathogenicity	Cone-rod dystrophy Pigmentary retinal dystrophy Adult-onset foveomacular vitelliform dystrophy Patterned macular dystrophy 1 Choroidal dystrophy, central areolar 2 Retinitis pigmentosa	Criteria Provided Conflicting Classifications	CA138165855	rs_572613522	1 SubmittersRCV001159042 RCV001159043 RCV001160384 RCV001160385 RCV001160386 RCV001160387
NM_000322.5(PRPH2):c.*509G>A	SNV Germline	Chr6:42697786	Conflicting classifications of pathogenicity	Patterned macular dystrophy 1 Adult-onset foveomacular vitelliform dystrophy Cone-rod dystrophy Pigmentary retinal dystrophy Choroidal dystrophy, central areolar 2 Retinitis pigmentosa	Criteria Provided Conflicting Classifications	CA138166131	rs_56194662	1 SubmittersRCV001162319 RCV001162320 RCV001162322 RCV001162321 RCV001162323 RCV001162324
NM_000322.5(PRPH2):c.*152G>A	SNV Germline	Chr6:42698143	Conflicting classifications of pathogenicity	Patterned macular dystrophy 1 Retinitis pigmentosa Adult-onset foveomacular vitelliform dystrophy Pigmentary retinal dystrophy Cone-rod dystrophy Choroidal dystrophy, central areolar 2	Criteria Provided Conflicting Classifications	CA138166355	rs_113384495	1 SubmittersRCV001160912 RCV001160913 RCV001160914 RCV001160909 RCV001160911 RCV001160910
NM_000322.5(PRPH2):c.955T>C (p.Phe319Leu)	SNV Germline	Chr6:42698381	Conflicting classifications of pathogenicity	Pigmentary retinal dystrophy Retinitis pigmentosa Choroidal dystrophy, central areolar 2 Patterned macular dystrophy 1 Cone-rod dystrophy Adult-onset foveomacular vitelliform dystrophy PRPH2-related disorder Condition: not provided Retinal dystrophy	Criteria Provided Conflicting Classifications	CA3808471	rs_139329966	4 SubmittersRCV001159755 RCV001159752 RCV001159753 RCV001159754 RCV001164673 RCV001164674 RCV001359073 RCV001530390 RCV003890320
NM_000322.5(PRPH2):c.852C>A (p.Arg284=)	SNV Germline	Chr6:42698484	Conflicting classifications of pathogenicity	Adult-onset foveomacular vitelliform dystrophy Choroidal dystrophy, central areolar 2 Retinitis pigmentosa Pigmentary retinal dystrophy Cone-rod dystrophy Patterned macular dystrophy 1 PRPH2-related disorder	Criteria Provided Conflicting Classifications	CA3808497	rs_745807357	2 SubmittersRCV001162822 RCV001162824 RCV001162823 RCV001162825 RCV001161272 RCV001162826 RCV002558532
NM_000322.5(PRPH2):c.346G>T (p.Ala116Ser)	SNV Germline	Chr6:42721989	Conflicting classifications of pathogenicity	Patterned macular dystrophy 1 Cone-rod dystrophy Choroidal dystrophy, central areolar 2 Pigmentary retinal dystrophy Retinitis pigmentosa Adult-onset foveomacular vitelliform dystrophy Condition: not provided Retinal dystrophy Retinitis pigmentosa 7	Criteria Provided Conflicting Classifications	CA3808632	rs_140227298	4 SubmittersRCV001158294 RCV001158296 RCV001158293 RCV001158295 RCV001158297 RCV001165013 RCV001530223 RCV003890315 RCV006634929
NM_000322.5(PRPH2):c.44A>G (p.Lys15Arg)	SNV Germline	Chr6:42722291	Conflicting classifications of pathogenicity	Pigmentary retinal dystrophy Adult-onset foveomacular vitelliform dystrophy Choroidal dystrophy, central areolar 2 Cone-rod dystrophy Patterned macular dystrophy 1 Retinitis pigmentosa Condition: not provided Retinal dystrophy PRPH2-related disorder	Criteria Provided Conflicting Classifications	CA3808674	rs_555112175	4 SubmittersRCV001163149 RCV001163151 RCV001163150 RCV001165225 RCV001165226 RCV001165227 RCV001530272 RCV003890331 RCV002559561
NM_000322.5(PRPH2):c.498C>A (p.Cys166Ter)	SNV Germline	Chr6:42721837	Pathogenic	Pigmentary retinal dystrophy PRPH2-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA364137422	rs_759752477	2 SubmittersRCV001198962 RCV003757221
NM_000322.5(PRPH2):c.737G>C (p.Trp246Ser)	SNV Germline	Chr6:42704456	Likely pathogenic	PRPH2-related disorder Condition: not provided	Criteria Provided Single Submitter	CA364135038	rs_1582764697	2 SubmittersRCV001211279 RCV001354608
NM_000322.5(PRPH2):c.731A>G (p.Asn244Ser)	SNV Germline	Chr6:42704462	Likely pathogenic	PRPH2-related disorder	Criteria Provided Single Submitter	CA364135067	rs_1582764714	1 SubmittersRCV001209907
NM_000322.5(PRPH2):c.639C>G (p.Cys213Trp)	SNV Germline	Chr6:42704554	Pathogenic	PRPH2-related disorder Condition: not provided Patterned dystrophy of the retinal pigment epithelium	Criteria Provided Multiple Submitters No Conflicts	CA364135582	rs_1800115811	3 SubmittersRCV001211284 RCV001530362 RCV001250309
NM_000322.5(PRPH2):c.634A>C (p.Ser212Arg)	SNV Germline	Chr6:42704559	Pathogenic	PRPH2-related disorder Retinal dystrophy	Criteria Provided Single Submitter	CA3808564	rs_61755800	2 SubmittersRCV001212981 RCV004813890
NM_000322.5(PRPH2):c.389T>C (p.Leu130Pro)	SNV Germline	Chr6:42721946	Pathogenic/Likely pathogenic	PRPH2-related disorder Retinitis pigmentosa Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA364137665	rs_1761911206	4 SubmittersRCV001212513 RCV001250303 RCV001530282
NM_000322.5(PRPH2):c.1A>G (p.Met1Val)	SNV Germline	Chr6:42722334	Conflicting classifications of pathogenicity	PRPH2-related disorder Retinal dystrophy	Criteria Provided Conflicting Classifications	CA364138987	rs_1761921867	2 SubmittersRCV001202664 RCV003890347
NM_000322.5(PRPH2):c.582-1G>A	SNV Germline	Chr6:42704612	Pathogenic/Likely pathogenic	PRPH2-related disorder Condition: not provided Stargardt disease Retinal dystrophy Choroideremia	Criteria Provided Multiple Submitters No Conflicts	CA364135897	rs_1800118693	5 SubmittersRCV001212443 RCV001530353 RCV001250354 RCV004813889 RCV005419038
NM_000322.5(PRPH2):c.1015G>A (p.Ala339Thr)	SNV Germline	Chr6:42698321	Conflicting classifications of pathogenicity	Retinal dystrophy PRPH2-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA3808458	rs_760687443	4 SubmittersRCV003887925 RCV001228253 RCV001530265
NM_000322.5(PRPH2):c.605G>A (p.Gly202Glu)	SNV Germline	Chr6:42704588	Pathogenic/Likely pathogenic	PRPH2-related disorder Patterned macular dystrophy 1	Criteria Provided Multiple Submitters No Conflicts	CA364135755	rs_1800117660	2 SubmittersRCV001247898 RCV001353008
NM_000322.5(PRPH2):c.450T>A (p.Cys150Ter)	SNV Germline	Chr6:42721885	Pathogenic	PRPH2-related disorder	Criteria Provided Single Submitter	CA364137534	rs_1761908800	1 SubmittersRCV001239630
NM_000322.5(PRPH2):c.828+1G>A	SNV Germline	Chr6:42704364	Pathogenic	PRPH2-related disorder Condition: not provided	Criteria Provided Single Submitter	CA364134538	rs_1800108516	2 SubmittersRCV001234682 RCV001530259
NM_000322.5(PRPH2):c.761T>A (p.Leu254Gln)	SNV Germline	Chr6:42704432	Pathogenic/Likely pathogenic	Patterned dystrophy of the retinal pigment epithelium Retinitis pigmentosa PRPH2-related disorder Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA364134917	rs_1800110989	3 SubmittersRCV001250340 RCV001250341 RCV001386135 RCV001530379
NM_000322.5(PRPH2):c.675T>A (p.Tyr225Ter)	SNV Germline	Chr6:42704518	Likely pathogenic	Retinitis pigmentosa	Criteria Provided Single Submitter	CA364135386	rs_1800114066	1 SubmittersRCV001250314
NM_000322.5(PRPH2):c.642C>A (p.Cys214Ter)	SNV Germline	Chr6:42704551	Pathogenic/Likely pathogenic	Stargardt disease PRPH2-related disorder Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA364135565	rs_1388865786	3 SubmittersRCV001250310 RCV001387192 RCV001530363
NM_000322.5(PRPH2):c.638G>C (p.Cys213Ser)	SNV Germline	Chr6:42704555	Pathogenic	Stargardt disease Condition: not provided PRPH2-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA364135589	rs_61755803	3 SubmittersRCV001250307 RCV001530361 RCV002568706
NM_000322.5(PRPH2):c.631T>C (p.Phe211Leu)	SNV Germline	Chr6:42704562	Pathogenic/Likely pathogenic	Retinitis pigmentosa Condition: not provided PRPH2-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA364135628	rs_1800116126	3 SubmittersRCV001250289 RCV001530317 RCV002570421
NM_000322.5(PRPH2):c.612C>A (p.Tyr204Ter)	SNV Germline	Chr6:42704581	Pathogenic	Patterned dystrophy of the retinal pigment epithelium Vitelliform macular dystrophy 2 Stargardt disease PRPH2-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA364135723	rs_1554269081	2 SubmittersRCV001250281 RCV001250282 RCV001250373 RCV001879779
NM_000322.5(PRPH2):c.583C>T (p.Arg195Ter)	SNV Germline	Chr6:42704610	Pathogenic/Likely pathogenic	Patterned dystrophy of the retinal pigment epithelium Condition: not provided PRPH2-related disorder Patterned macular dystrophy 1 Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA364135882	rs_1322278463	6 SubmittersRCV001250355 RCV001530355 RCV001381221 RCV002290662 RCV004814021
NM_000322.5(PRPH2):c.494G>T (p.Cys165Phe)	SNV Germline	Chr6:42721841	Conflicting classifications of pathogenicity	Retinitis pigmentosa Condition: not provided PRPH2-related disorder	Criteria Provided Conflicting Classifications	CA364137430	rs_61755788	3 SubmittersRCV001250330 RCV001530224 RCV001379008
NM_000322.5(PRPH2):c.380A>G (p.Glu127Gly)	SNV Germline	Chr6:42721955	Conflicting classifications of pathogenicity	Stargardt disease Cone-rod dystrophy PRPH2-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA3808625	rs_543703718	3 SubmittersRCV001250302 RCV001250301 RCV001400129 RCV001530280
NM_000322.5(PRPH2):c.828+2T>C	SNV Germline	Chr6:42704363	Pathogenic/Likely pathogenic	Stargardt disease PRPH2-related disorder Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA364134529	rs_1800108496	3 SubmittersRCV001250343 RCV001301121 RCV001530260
NM_000322.5(PRPH2):c.515G>C (p.Arg172Pro)	SNV Germline	Chr6:42721820	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA364137388	rs_61755793	2 SubmittersRCV001268764
NM_000322.5(PRPH2):c.668T>C (p.Ile223Thr)	SNV Germline	Chr6:42704525	Likely pathogenic	Adult-onset foveomacular vitelliform dystrophy	No Assertion Criteria Provided	CA364135425	rs_1800114220	1 SubmittersRCV001280897
NM_000322.5(PRPH2):c.695C>A (p.Ala232Glu)	SNV Germline	Chr6:42704498	Pathogenic	PRPH2-related disorder	Criteria Provided Single Submitter	CA364135272	rs_1800113364	1 SubmittersRCV001303822
NM_000322.5(PRPH2):c.622G>T (p.Gly208Cys)	SNV Germline	Chr6:42704571	Likely pathogenic	PRPH2-related disorder	Criteria Provided Single Submitter	CA364135667	rs_901479607	1 SubmittersRCV001352567
NM_000322.5(PRPH2):c.512T>G (p.Phe171Cys)	SNV Unknown	Chr6:42721823	Likely pathogenic	Retinitis pigmentosa 7	Criteria Provided Single Submitter	CA364137391	rs_1761906682	1 SubmittersRCV001352981
NM_000322.5(PRPH2):c.850C>T (p.Arg284Cys)	SNV Germline	Chr6:42698486	Conflicting classifications of pathogenicity	PRPH2-related disorder Condition: not provided Retinal disorder	Criteria Provided Conflicting Classifications	CA3808498	rs_370994796	3 SubmittersRCV001371896 RCV001530263 RCV006443835
NM_000322.5(PRPH2):c.581+5G>A	SNV Germline	Chr6:42721749	Conflicting classifications of pathogenicity	Patterned macular dystrophy 1 PRPH2-related disorder	Criteria Provided Conflicting Classifications	CA2499218255	rs_2152010844	2 SubmittersRCV001726496 RCV006466791
NM_000322.5(PRPH2):c.628C>G (p.Pro210Ala)	SNV Germline	Chr6:42704565	Pathogenic	PRPH2-related disorder	Criteria Provided Single Submitter	CA3808566	rs_61755797	1 SubmittersRCV001379296
NM_000322.5(PRPH2):c.626T>A (p.Val209Asp)	SNV Germline	Chr6:42704567	Pathogenic/Likely pathogenic	PRPH2-related disorder Condition: not provided Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA364135644	rs_1220783333	3 SubmittersRCV001378538 RCV001530315 RCV004815505
NM_000322.5(PRPH2):c.625G>A (p.Val209Ile)	SNV Germline	Chr6:42704568	Likely pathogenic	PRPH2-related disorder Retinitis pigmentosa 7 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA3808567	rs_753657349	5 SubmittersRCV001378480 RCV002051942 RCV001530314
NM_000322.5(PRPH2):c.702C>A (p.Tyr234Ter)	SNV Germline	Chr6:42704491	Pathogenic	PRPH2-related disorder	Criteria Provided Single Submitter	CA364135236	rs_2152005280	1 SubmittersRCV001387033
NM_000322.5(PRPH2):c.692C>G (p.Ser231Ter)	SNV Germline	Chr6:42704501	Pathogenic/Likely pathogenic	PRPH2-related disorder Condition: not provided Retinitis pigmentosa 7 Patterned macular dystrophy 1 Pigmentary retinal dystrophy Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA364135285	rs_1554269046	5 SubmittersRCV001389849 RCV001530322 RCV002468637 RCV002290706 RCV003388844 RCV004815528
NM_000322.5(PRPH2):c.647C>G (p.Pro216Arg)	SNV Germline	Chr6:42704546	Pathogenic/Likely pathogenic	PRPH2-related disorder Condition: not provided Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA364135534	rs_61755806	4 SubmittersRCV001386139 RCV001530368 RCV003888085
NM_000322.5(PRPH2):c.537G>A (p.Trp179Ter)	SNV Germline	Chr6:42721798	Pathogenic	PRPH2-related disorder	Criteria Provided Single Submitter	CA364137338	rs_779414078	1 SubmittersRCV001388653
NM_000322.5(PRPH2):c.522G>A (p.Trp174Ter)	SNV Germline	Chr6:42721813	Pathogenic	PRPH2-related disorder Condition: not provided	Criteria Provided Single Submitter	CA364137373	rs_1064793237	2 SubmittersRCV001381222 RCV001530301
NM_000322.5(PRPH2):c.781C>T (p.Leu261Phe)	SNV Germline	Chr6:42704412	Conflicting classifications of pathogenicity	PRPH2-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA3808538	rs_150381599	3 SubmittersRCV001410446 RCV001530383
NM_000322.5(PRPH2):c.826G>T (p.Glu276Ter)	SNV Germline	Chr6:42704367	Pathogenic	Condition: not provided PRPH2-related disorder	Criteria Provided Single Submitter	CA364134549	rs_751900290	2 SubmittersRCV001530258 RCV002568177
NM_000322.5(PRPH2):c.774C>G (p.Tyr258Ter)	SNV Germline	Chr6:42704419	Pathogenic	Condition: not provided PRPH2-related disorder	Criteria Provided Single Submitter	CA364134845	rs_121918564	2 SubmittersRCV001530381 RCV002568181
NM_000322.5(PRPH2):c.749G>A (p.Cys250Tyr)	SNV Germline	Chr6:42704444	Pathogenic	Condition: not provided Patterned macular dystrophy 1 Retinal dystrophy	Criteria Provided Single Submitter	CA364134980	rs_1458793437	3 SubmittersRCV001530375 RCV002223311 RCV004815559
NM_000322.5(PRPH2):c.748T>G (p.Cys250Gly)	SNV Germline	Chr6:42704445	Pathogenic	Condition: not provided Retinal dystrophy	Criteria Provided Single Submitter	CA364134982	rs_1064793931	2 SubmittersRCV001530372 RCV003888301
NM_000322.5(PRPH2):c.748T>C (p.Cys250Arg)	SNV Germline	Chr6:42704445	Likely pathogenic	Condition: not provided Retinal dystrophy	Criteria Provided Single Submitter	CA364134985	rs_1064793931	2 SubmittersRCV001530373 RCV004815558
NM_000322.5(PRPH2):c.745G>A (p.Gly249Ser)	SNV Germline	Chr6:42704448	Conflicting classifications of pathogenicity	Condition: not provided Retinitis pigmentosa 7 Retinal dystrophy	Criteria Provided Conflicting Classifications	CA364134999	rs_2152005248	3 SubmittersRCV001530329 RCV001810072 RCV004815556
NM_000322.5(PRPH2):c.738G>C (p.Trp246Cys)	SNV Germline	Chr6:42704455	Pathogenic/Likely pathogenic	Condition: not provided PRPH2-related disorder Retinitis pigmentosa 7	Criteria Provided Multiple Submitters No Conflicts	CA364135031	rs_1800111659	3 SubmittersRCV001530327 RCV003591877 RCV005235586
NM_000322.5(PRPH2):c.668T>A (p.Ile223Asn)	SNV Germline	Chr6:42704525	Likely pathogenic	Condition: not provided	No Assertion Criteria Provided	CA364135427	rs_1800114220	1 SubmittersRCV001530250
NM_000322.5(PRPH2):c.662C>T (p.Pro221Leu)	SNV Germline	Chr6:42704531	Pathogenic/Likely pathogenic	Condition: not provided PRPH2-related disorder Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA364135458	rs_973931180	3 SubmittersRCV001530246 RCV001873752 RCV004815551
NM_000322.5(PRPH2):c.643A>T (p.Asn215Tyr)	SNV Germline	Chr6:42704550	Pathogenic	Condition: not provided PRPH2-related disorder	Criteria Provided Single Submitter	CA364135557	rs_2152005339	2 SubmittersRCV001530364 RCV001873760
NM_000322.5(PRPH2):c.643A>C (p.Asn215His)	SNV Germline	Chr6:42704550	Pathogenic	Condition: not provided PRPH2-related disorder	Criteria Provided Single Submitter	CA364135561	rs_2152005339	2 SubmittersRCV001530365 RCV001873761
NM_000322.5(PRPH2):c.638G>T (p.Cys213Phe)	SNV Germline	Chr6:42704555	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA364135586	rs_61755803	2 SubmittersRCV001530320
NM_000322.5(PRPH2):c.633C>G (p.Phe211Leu)	SNV Germline	Chr6:42704560	Pathogenic/Likely pathogenic	Condition: not provided PRPH2-related disorder Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA364135617	rs_61755799	4 SubmittersRCV001530319 RCV001882585 RCV003888299
NM_000322.5(PRPH2):c.599T>G (p.Val200Gly)	SNV Germline	Chr6:42704594	Pathogenic	Condition: not provided	No Assertion Criteria Provided	CA364135784	rs_62645932	1 SubmittersRCV001530233
NM_000322.5(PRPH2):c.595A>G (p.Asn199Asp)	SNV Germline	Chr6:42704598	Likely pathogenic	Condition: not provided PRPH2-related disorder	Criteria Provided Single Submitter	CA364135815	rs_757988141	2 SubmittersRCV001530231 RCV003591876
NM_000322.5(PRPH2):c.592A>C (p.Ser198Arg)	SNV Germline	Chr6:42704601	Pathogenic	Condition: not provided	No Assertion Criteria Provided	CA364135837	rs_2152005405	1 SubmittersRCV001530360
NM_000322.5(PRPH2):c.583C>G (p.Arg195Gly)	SNV Germline	Chr6:42704610	Conflicting classifications of pathogenicity	Condition: not provided PRPH2-related disorder Retinal disorder	Criteria Provided Conflicting Classifications	CA364135884	rs_1322278463	3 SubmittersRCV001530356 RCV003591878 RCV006637031
NM_000322.5(PRPH2):c.582-2A>T	SNV Germline	Chr6:42704613	Pathogenic	Condition: not provided Retinal dystrophy	Criteria Provided Single Submitter	CA364135899	rs_2152005417	2 SubmittersRCV001530352 RCV004815557
NM_000322.5(PRPH2):c.581+1G>C	SNV Germline	Chr6:42721753	Pathogenic	Condition: not provided PRPH2-related disorder	Criteria Provided Single Submitter	CA364137087	rs_1761904690	2 SubmittersRCV001530309 RCV002568886
NM_000322.5(PRPH2):c.571G>T (p.Glu191Ter)	SNV Germline	Chr6:42721764	Pathogenic	Condition: not provided PRPH2-related disorder Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA364137155	rs_2152010848	3 SubmittersRCV001530308 RCV001873755 RCV004815555
NM_000322.5(PRPH2):c.556G>A (p.Asp186Asn)	SNV Germline	Chr6:42721779	Pathogenic/Likely pathogenic	Condition: not provided PRPH2-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA364137245	rs_2152010859	3 SubmittersRCV001530306 RCV001882584
NM_000322.5(PRPH2):c.536G>T (p.Trp179Leu)	SNV Germline	Chr6:42721799	Likely pathogenic	Condition: not provided	No Assertion Criteria Provided	CA364137340	rs_2152010886	1 SubmittersRCV001530302
NM_000322.5(PRPH2):c.520T>A (p.Trp174Arg)	SNV Germline	Chr6:42721815	Pathogenic	Condition: not provided PRPH2-related disorder	Criteria Provided Single Submitter	CA364137379	rs_1395223954	2 SubmittersRCV001530228 RCV005094727
NM_000322.5(PRPH2):c.516G>T (p.Arg172=)	SNV Germline	Chr6:42721819	Pathogenic	Condition: not provided	No Assertion Criteria Provided	CA450362459	rs_2152010899	1 SubmittersRCV001530226
NM_000322.5(PRPH2):c.493T>C (p.Cys165Arg)	SNV Germline	Chr6:42721842	Pathogenic	Condition: not provided PRPH2-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA364137433	rs_2152010916	3 SubmittersRCV001530347 RCV001873759
NM_000322.5(PRPH2):c.457A>G (p.Lys153Glu)	SNV Germline	Chr6:42721878	Conflicting classifications of pathogenicity	Condition: not provided PRPH2-related disorder	Criteria Provided Conflicting Classifications	CA16609676	rs_2152010930	3 SubmittersRCV001530340 RCV001873758
NM_000322.5(PRPH2):c.423C>A (p.Tyr141Ter)	SNV Germline	Chr6:42721912	Pathogenic	Condition: not provided PRPH2-related disorder Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA364137590	rs_2152010946	3 SubmittersRCV001530289 RCV001873753 RCV004815554
NM_000322.5(PRPH2):c.377T>G (p.Leu126Arg)	SNV Germline	Chr6:42721958	Likely pathogenic	Condition: not provided	No Assertion Criteria Provided	CA364137690	rs_2152010976	1 SubmittersRCV001530278
NM_000322.5(PRPH2):c.377T>C (p.Leu126Pro)	SNV Germline	Chr6:42721958	Pathogenic	Condition: not provided PRPH2-related disorder	Criteria Provided Single Submitter	CA364137692	rs_2152010976	2 SubmittersRCV001530279 RCV001882581
NM_000322.5(PRPH2):c.281G>A (p.Trp94Ter)	SNV Germline	Chr6:42722054	Pathogenic	Condition: not provided Retinal dystrophy	Criteria Provided Single Submitter	CA364138041	rs_2152011008	2 SubmittersRCV001530219 RCV004815550
NM_000322.5(PRPH2):c.202G>C (p.Gly68Arg)	SNV Germline	Chr6:42722133	Likely pathogenic	Condition: not provided	No Assertion Criteria Provided	CA364138392	rs_61755774	1 SubmittersRCV001530297
NM_000322.5(PRPH2):c.122T>C (p.Leu41Pro)	SNV Germline	Chr6:42722213	Likely pathogenic	Condition: not provided PRPH2-related disorder	Criteria Provided Single Submitter	CA364138725	rs_2152011091	2 SubmittersRCV001530292 RCV001882583
NM_000322.5(PRPH2):c.112G>T (p.Gly38Ter)	SNV Germline	Chr6:42722223	Likely pathogenic	Condition: not provided	No Assertion Criteria Provided	CA364138745	rs_1761918414	1 SubmittersRCV001530290
NM_000322.5(PRPH2):c.63G>A (p.Trp21Ter)	SNV Germline	Chr6:42722272	Pathogenic	Condition: not provided	No Assertion Criteria Provided	CA364138852	rs_2152011132	1 SubmittersRCV001530273
NM_000322.5(PRPH2):c.38G>A (p.Arg13Gln)	SNV Germline	Chr6:42722297	Likely pathogenic	Condition: not provided	No Assertion Criteria Provided	CA3808676	rs_745427463	1 SubmittersRCV001530270
NM_000322.5(PRPH2):c.4G>T (p.Ala2Ser)	SNV Germline	Chr6:42722331	Likely pathogenic	Condition: not provided	No Assertion Criteria Provided	CA364138978	rs_1424831291	1 SubmittersRCV001530269
NM_000322.5(PRPH2):c.1A>T (p.Met1Leu)	SNV Germline	Chr6:42722334	Pathogenic	Condition: not provided PRPH2-related disorder	Criteria Provided Single Submitter	CA364138986	rs_1761921867	2 SubmittersRCV001530268 RCV002568885
NM_000322.5(PRPH2):c.695C>T (p.Ala232Val)	SNV Germline	Chr6:42704498	Conflicting classifications of pathogenicity	Condition: not provided Retinal dystrophy	Criteria Provided Conflicting Classifications	CA364135276	rs_1800113364	2 SubmittersRCV001547136 RCV003324565
NM_000322.5(PRPH2):c.389T>G (p.Leu130Arg)	SNV Germline	Chr6:42721946	Likely pathogenic	PRPH2-related disorder	Criteria Provided Single Submitter	CA364137664	rs_1761911206	1 SubmittersRCV002050336
NM_000322.5(PRPH2):c.62G>A (p.Trp21Ter)	SNV Germline	Chr6:42722273	Pathogenic	PRPH2-related disorder Retinal dystrophy	Criteria Provided Single Submitter	CA364138855	rs_2152011135	2 SubmittersRCV001999832 RCV004816818
NM_000322.5(PRPH2):c.721G>T (p.Glu241Ter)	SNV Germline	Chr6:42704472	Pathogenic	PRPH2-related disorder	Criteria Provided Single Submitter	CA364135127	rs_2152005272	1 SubmittersRCV001961954
NM_000322.5(PRPH2):c.828+1G>T	SNV Germline	Chr6:42704364	Pathogenic	PRPH2-related disorder	Criteria Provided Single Submitter	CA364134534	rs_1800108516	1 SubmittersRCV001927187
NM_000322.5(PRPH2):c.599T>C (p.Val200Ala)	SNV Germline	Chr6:42704594	Likely pathogenic	PRPH2-related disorder	Criteria Provided Single Submitter	CA364135789	rs_62645932	1 SubmittersRCV002011195
NM_000322.5(PRPH2):c.640T>C (p.Cys214Arg)	SNV Germline	Chr6:42704553	Likely pathogenic	PRPH2-related disorder	Criteria Provided Single Submitter	CA364135578	rs_2152005343	1 SubmittersRCV002041544
NM_000322.5(PRPH2):c.469G>C (p.Asp157His)	SNV Germline	Chr6:42721866	Likely pathogenic	PRPH2-related disorder	Criteria Provided Single Submitter	CA364137491	rs_61755787	1 SubmittersRCV002020616
NM_000322.5(PRPH2):c.419A>G (p.Tyr140Cys)	SNV Germline	Chr6:42721916	Likely pathogenic	PRPH2-related disorder Retinal dystrophy	Criteria Provided Single Submitter	CA364137598	rs_1761910060	2 SubmittersRCV001894157 RCV004815671
NM_000322.5(PRPH2):c.749G>C (p.Cys250Ser)	SNV Germline	Chr6:42704444	Likely pathogenic	PRPH2-related disorder	Criteria Provided Single Submitter	CA364134978	rs_1458793437	1 SubmittersRCV002025314
NM_000322.5(PRPH2):c.750C>A (p.Cys250Ter)	SNV Germline	Chr6:42704443	Pathogenic	PRPH2-related disorder	Criteria Provided Single Submitter	CA364134971	rs_2152005243	1 SubmittersRCV001956505
NM_000322.5(PRPH2):c.557A>G (p.Asp186Gly)	SNV Germline	Chr6:42721778	Likely pathogenic	PRPH2-related disorder	Criteria Provided Single Submitter	CA364137234	rs_2152010856	1 SubmittersRCV001983906
NM_000322.5(PRPH2):c.910C>T (p.Gln304Ter)	SNV Germline	Chr6:42698426	Likely pathogenic	PRPH2-related disorder	Criteria Provided Single Submitter	CA364133175	rs_390659	1 SubmittersRCV002030781
NM_000322.5(PRPH2):c.535T>G (p.Trp179Gly)	SNV Germline	Chr6:42721800	Likely pathogenic	Pigmentary retinal dystrophy Retinitis pigmentosa 7 Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA364137343	rs_61755796	3 SubmittersRCV002249143 RCV003152791 RCV004816984
NM_000322.5(PRPH2):c.2T>G (p.Met1Arg)	SNV Germline	Chr6:42722333	Pathogenic	Pigmentary retinal dystrophy	Criteria Provided Single Submitter	CA364138984	rs_121918565	1 SubmittersRCV002250267
NM_000322.5(PRPH2):c.655C>T (p.Pro219Ser)	SNV Germline	Chr6:42704538	Conflicting classifications of pathogenicity	PRPH2-related disorder Retinal dystrophy	Criteria Provided Conflicting Classifications	CA364135489	rs_749603273	2 SubmittersRCV002569611 RCV003889115
NM_000322.5(PRPH2):c.604G>T (p.Gly202Trp)	SNV Germline	Chr6:42704589	Likely pathogenic	PRPH2-related disorder	Criteria Provided Single Submitter	CA364135758	rs_752610846	1 SubmittersRCV002671370
NM_000322.5(PRPH2):c.666C>A (p.Cys222Ter)	SNV Germline	Chr6:42704527	Pathogenic	PRPH2-related disorder	Criteria Provided Single Submitter	CA364135437	rs_2548300782	1 SubmittersRCV002839533
NM_000322.5(PRPH2):c.479A>C (p.Gln160Pro)	SNV Germline	Chr6:42721856	Likely pathogenic	PRPH2-related disorder	Criteria Provided Single Submitter	CA364137467	rs_2548309643	1 SubmittersRCV002866464
NM_000322.5(PRPH2):c.249C>A (p.Tyr83Ter)	SNV Germline	Chr6:42722086	Pathogenic	PRPH2-related disorder	Criteria Provided Single Submitter	CA364138134	rs_61755775	1 SubmittersRCV002857924
NM_000322.5(PRPH2):c.658C>G (p.Arg220Gly)	SNV Germline	Chr6:42704535	Conflicting classifications of pathogenicity	PRPH2-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA364135477	rs_61755809	2 SubmittersRCV002918660 RCV006251165
NM_000322.5(PRPH2):c.470A>G (p.Asp157Gly)	SNV Germline	Chr6:42721865	Likely pathogenic	PRPH2-related disorder	Criteria Provided Single Submitter	CA364137488	rs_2548309652	1 SubmittersRCV002966658
NM_000322.5(PRPH2):c.500G>T (p.Gly167Val)	SNV Germline	Chr6:42721835	Likely pathogenic	PRPH2-related disorder	Criteria Provided Single Submitter	CA364137417	rs_61755789	1 SubmittersRCV003047754
NM_000322.5(PRPH2):c.303C>A (p.Tyr101Ter)	SNV Germline	Chr6:42722032	Pathogenic	PRPH2-related disorder	Criteria Provided Single Submitter	CA364137922	rs_61755776	1 SubmittersRCV003044415
NM_000322.5(PRPH2):c.655C>G (p.Pro219Ala)	SNV Germline	Chr6:42704538	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA364135491	rs_749603273	1 SubmittersRCV003329956
NM_000322.5(PRPH2):c.530T>G (p.Ile177Ser)	SNV Unknown	Chr6:42721805	Likely pathogenic	Vitelliform macular dystrophy 3	Criteria Provided Single Submitter	CA364137352	rs_748478593	1 SubmittersRCV003389572
NM_000322.5(PRPH2):c.917G>A (p.Trp306Ter)	SNV Unknown	Chr6:42698419	Likely pathogenic	Patterned dystrophy of the retinal pigment epithelium	Criteria Provided Single Submitter	CA364133140	rs_2548298343	1 SubmittersRCV003389577
NM_000322.5(PRPH2):c.637T>G (p.Cys213Gly)	SNV Germline	Chr6:42704556	Likely pathogenic	PRPH2-related disorder	Criteria Provided Single Submitter	CA364135593	rs_61755802	1 SubmittersRCV003592421
NM_000322.5(PRPH2):c.662C>G (p.Pro221Arg)	SNV Germline	Chr6:42704531	Likely pathogenic	PRPH2-related disorder	Criteria Provided Single Submitter	CA364135460	rs_973931180	1 SubmittersRCV003592507
NM_000322.5(PRPH2):c.238A>T (p.Lys80Ter)	SNV Germline	Chr6:42722097	Pathogenic	PRPH2-related disorder	Criteria Provided Single Submitter	CA364138199	rs_2548309835	1 SubmittersRCV003592593
NM_000322.5(PRPH2):c.635G>A (p.Ser212Asn)	SNV Germline	Chr6:42704558	Likely pathogenic	PRPH2-related disorder Retinal dystrophy	Criteria Provided Single Submitter	CA364135608	rs_61755801	2 SubmittersRCV003593007 RCV004818369
NM_000322.5(PRPH2):c.423C>G (p.Tyr141Ter)	SNV Germline	Chr6:42721912	Pathogenic	PRPH2-related disorder	Criteria Provided Single Submitter	CA364137589	rs_2152010946	1 SubmittersRCV003591426
NM_000322.5(PRPH2):c.421T>G (p.Tyr141Asp)	SNV Germline	Chr6:42721914	Likely pathogenic	PRPH2-related disorder	Criteria Provided Single Submitter	CA364137593	rs_61755780	1 SubmittersRCV003591367
NM_000322.5(PRPH2):c.582-2A>G	SNV Germline	Chr6:42704613	Pathogenic	PRPH2-related disorder	Criteria Provided Single Submitter	CA364135902	rs_2152005417	1 SubmittersRCV003592161
NM_000322.5(PRPH2):c.661C>G (p.Pro221Ala)	SNV Germline	Chr6:42704532	Likely pathogenic	PRPH2-related disorder	Criteria Provided Single Submitter	CA364135465	rs_777534414	1 SubmittersRCV003757478
NM_000322.5(PRPH2):c.74G>A (p.Trp25Ter)	SNV Germline	Chr6:42722261	Pathogenic	PRPH2-related disorder	Criteria Provided Single Submitter	CA364138824	rs_535111150	1 SubmittersRCV003757500
NM_000322.5(PRPH2):c.694G>A (p.Ala232Thr)	SNV Germline	Chr6:42704499	Likely pathogenic	PRPH2-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA364135281	rs_2548300768	2 SubmittersRCV003757687
NM_000322.5(PRPH2):c.484G>T (p.Glu162Ter)	SNV Germline	Chr6:42721851	Pathogenic	PRPH2-related disorder	Criteria Provided Single Submitter	CA364137456	rs_769939935	1 SubmittersRCV003757732
NM_000322.5(PRPH2):c.637T>A (p.Cys213Ser)	SNV Germline	Chr6:42704556	Pathogenic	PRPH2-related disorder	Criteria Provided Single Submitter	CA364135597	rs_61755802	1 SubmittersRCV003757680
NM_000322.5(PRPH2):c.708C>A (p.Tyr236Ter)	SNV Germline	Chr6:42704485	Pathogenic	PRPH2-related disorder	Criteria Provided Single Submitter	CA364135200	rs_61755813	1 SubmittersRCV003757811
NM_000322.5(PRPH2):c.273T>G (p.Tyr91Ter)	SNV Germline	Chr6:42722062	Pathogenic	Choroidal dystrophy, central areolar 2	Criteria Provided Single Submitter	CA364138057	rs_1761914145	1 SubmittersRCV003883233
NM_000322.5(PRPH2):c.828G>T (p.Glu276Asp)	SNV Germline	Chr6:42704365	Likely pathogenic	Retinal dystrophy	Criteria Provided Single Submitter	CA364134541	rs_1800108549	1 SubmittersRCV003891000
NM_000322.5(PRPH2):c.644A>C (p.Asn215Thr)	SNV Germline	Chr6:42704549	Likely pathogenic	Retinal dystrophy	Criteria Provided Single Submitter	CA364135554	rs_2548300805	1 SubmittersRCV003891003
NM_000322.5(PRPH2):c.409G>C (p.Gly137Arg)	SNV Germline	Chr6:42721926	Pathogenic	Retinal dystrophy	Criteria Provided Single Submitter	CA364137622	rs_781256236	1 SubmittersRCV003891006
NM_000322.5(PRPH2):c.457A>C (p.Lys153Gln)	SNV Germline	Chr6:42721878	Likely pathogenic	Retinal dystrophy	No Assertion Criteria Provided			1 SubmittersRCV004814355
NM_000322.5(PRPH2):c.851G>A (p.Arg284His)	SNV Germline	Chr6:42698485	Likely pathogenic	Retinal dystrophy	No Assertion Criteria Provided			1 SubmittersRCV004817239
NM_000322.5(PRPH2):c.442G>T (p.Gly148Cys)	SNV Germline	Chr6:42721893	Likely pathogenic	Retinal dystrophy	No Assertion Criteria Provided			1 SubmittersRCV004817357
NM_000322.5(PRPH2):c.721G>C (p.Glu241Gln)	SNV Germline	Chr6:42704472	Likely pathogenic	Retinal dystrophy	No Assertion Criteria Provided			1 SubmittersRCV004817389
NM_000322.5(PRPH2):c.898G>T (p.Glu300Ter)	SNV Germline	Chr6:42698438	Pathogenic	Retinal dystrophy	No Assertion Criteria Provided			1 SubmittersRCV004817710
NM_000322.5(PRPH2):c.469G>T (p.Asp157Tyr)	SNV Germline	Chr6:42721866	Likely pathogenic	Retinal dystrophy	Criteria Provided Single Submitter			1 SubmittersRCV004818735
NM_000322.5(PRPH2):c.859C>T (p.Gln287Ter)	SNV Germline	Chr6:42698477	Pathogenic	Choroidal dystrophy, central areolar 2	Criteria Provided Single Submitter			1 SubmittersRCV004821163
NM_000322.5(PRPH2):c.738G>T (p.Trp246Cys)	SNV Germline	Chr6:42704455	Pathogenic	PRPH2-related disorder	Criteria Provided Single Submitter			1 SubmittersRCV005111885
NM_000322.5(PRPH2):c.640T>G (p.Cys214Gly)	SNV Germline	Chr6:42704553	Likely pathogenic	PRPH2-related disorder	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV005111886
NM_000322.5(PRPH2):c.476T>C (p.Leu159Pro)	SNV Germline	Chr6:42721859	Conflicting classifications of pathogenicity	PRPH2-related disorder Vitelliform macular dystrophy 3	Criteria Provided Conflicting Classifications			2 SubmittersRCV005111887 RCV005629699
NM_000322.5(PRPH2):c.532C>T (p.Gln178Ter)	SNV Germline	Chr6:42721803	Pathogenic	PRPH2-related disorder	Criteria Provided Single Submitter			1 SubmittersRCV005120531
NM_000322.5(PRPH2):c.3G>A (p.Met1Ile)	SNV Germline	Chr6:42722332	Pathogenic	PRPH2-related disorder	Criteria Provided Single Submitter			1 SubmittersRCV005127330
NM_000322.5(PRPH2):c.670C>T (p.Gln224Ter)	SNV Germline	Chr6:42704523	Pathogenic	PRPH2-related disorder	Criteria Provided Single Submitter			1 SubmittersRCV005133600
NM_000322.5(PRPH2):c.422A>C (p.Tyr141Ser)	SNV Germline	Chr6:42721913	Likely pathogenic	Patterned macular dystrophy 1	Criteria Provided Single Submitter			1 SubmittersRCV005235864
NM_000322.5(PRPH2):c.356G>A (p.Cys119Tyr)	SNV Germline	Chr6:42721979	Likely pathogenic	PRPH2-associated retinal disease	Criteria Provided Single Submitter			1 SubmittersRCV005430088
NM_000322.5(PRPH2):c.594C>A (p.Ser198Arg)	SNV Germline	Chr6:42704599	Likely pathogenic	Retinitis pigmentosa 7	Criteria Provided Single Submitter			1 SubmittersRCV005884562
NM_000322.5(PRPH2):c.457A>T (p.Lys153Ter)	SNV Germline	Chr6:42721878	Pathogenic	PRPH2-related disorder	Criteria Provided Single Submitter			1 SubmittersRCV006506752
NM_000322.5(PRPH2):c.291G>A (p.Trp97Ter)	SNV Germline	Chr6:42722044	Pathogenic	PRPH2-related disorder	Criteria Provided Single Submitter			1 SubmittersRCV006587624
NM_000322.5(PRPH2):c.629C>A (p.Pro210His)	SNV Germline	Chr6:42704564	Likely pathogenic	PRPH2-related disorder	Criteria Provided Single Submitter			1 SubmittersRCV006622373
NM_000322.5(PRPH2):c.520T>G (p.Trp174Gly)	SNV Germline	Chr6:42721815	Likely pathogenic	PRPH2-related disorder	Criteria Provided Single Submitter			1 SubmittersRCV006622375
NM_000322.5(PRPH2):c.495C>G (p.Cys165Trp)	SNV Germline	Chr6:42721840	Likely pathogenic	PRPH2-related disorder	Criteria Provided Single Submitter			1 SubmittersRCV006622376
NM_000322.5(PRPH2):c.277A>T (p.Arg93Ter)	SNV Germline	Chr6:42722058	Pathogenic	PRPH2-related disorder	Criteria Provided Single Submitter			1 SubmittersRCV006689972

NM_000322.5(PRPH2):c.647C>T (p.Pro216Leu)

SNV
Germline

Chr6:42704546

Pathogenic

Retinitis pigmentosa 7
Condition: not provided
Retinitis pigmentosa
PRPH2-related disorder
Retinal dystrophy
Patterned dystrophy of the retinal pigment epithelium

Criteria Provided
Multiple Submitters
No Conflicts

CA226285

rs_61755806

10 SubmittersRCV000014050 RCV000085007 RCV001003142 RCV001063368 RCV001075781 RCV001250376

NM_000322.5(PRPH2):c.554T>C (p.Leu185Pro)

SNV
Germline

Chr6:42721781

Pathogenic/Likely pathogenic

Retinitis pigmentosa 7, digenic
Condition: not provided
Leber congenital amaurosis 18
Patterned macular dystrophy 1
Retinal dystrophy
Patterned dystrophy of the retinal pigment epithelium
PRPH2-related disorder
Retinitis pigmentosa

Criteria Provided
Multiple Submitters
No Conflicts

CA122928

rs_121918563

8 SubmittersRCV000014051 RCV000084987 RCV000149464 RCV000149466 RCV001075516 RCV001250378 RCV001378481 RCV001530305

NM_000322.5(PRPH2):c.515G>A (p.Arg172Gln)

SNV
Germline

Chr6:42721820

Pathogenic/Likely pathogenic

Choroidal dystrophy, central areolar 2
Condition: not provided
Macular dystrophy
Retinitis pigmentosa
PRPH2-related disorder
Patterned dystrophy of the retinal pigment epithelium
Stargardt disease
Vitelliform macular dystrophy 3
Retinal dystrophy
Retinitis pigmentosa 7

Criteria Provided
Multiple Submitters
No Conflicts

CA122930

rs_61755793

14 SubmittersRCV000014053 RCV000084982 RCV000787664 RCV000787663 RCV001054658 RCV001250353 RCV001250367 RCV001799605 RCV001074392 RCV005234784

NM_000322.5(PRPH2):c.774C>A (p.Tyr258Ter)

SNV
Germline

Chr6:42704419

Pathogenic

Condition: not provided
Vitelliform macular dystrophy 3

No Assertion Criteria Provided

CA122932

rs_121918564

2 SubmittersRCV001530382 RCV002508118

NM_000322.5(PRPH2):c.500G>A (p.Gly167Asp)

SNV
Germline

Chr6:42721835

Pathogenic/Likely pathogenic

Patterned macular dystrophy 1
Condition: not provided
PRPH2-related disorder
Choroidal dystrophy, central areolar 2

Criteria Provided
Multiple Submitters
No Conflicts

CA122934

rs_61755789

6 SubmittersRCV000014055 RCV000084977 RCV001857348 RCV006645792

NM_000322.5(PRPH2):c.514C>T (p.Arg172Trp)

SNV
Germline

Chr6:42721821

Pathogenic/Likely pathogenic

Choroidal dystrophy, central areolar 2
Condition: not provided
PRPH2-related disorder
maculopathy
Retinitis pigmentosa
Patterned dystrophy of the retinal pigment epithelium
Vitelliform macular dystrophy 2
Cone-rod dystrophy
Stargardt disease
Patterned macular dystrophy 1
Retinitis pigmentosa 7
Retinitis pigmentosa 40
Retinal dystrophy
Retinal disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA122936

rs_61755792

19 SubmittersRCV000014056 RCV000084981 RCV001049315 RCV001003147 RCV001250348 RCV001250349 RCV001250351 RCV001250350 RCV001250352 RCV001352972 RCV002466402 RCV006697992 RCV003887869 RCV006272080

NM_000322.5(PRPH2):c.732C>A (p.Asn244Lys)

SNV
Germline

Chr6:42704461

Pathogenic

Retinitis pigmentosa 7
Condition: not provided
Retinal dystrophy
PRPH2-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA226304

rs_61755816

5 SubmittersRCV000014058 RCV000085017 RCV003887870 RCV006461155

NM_000322.5(PRPH2):c.629C>G (p.Pro210Arg)

SNV
Germline

Chr6:42704564

Pathogenic/Likely pathogenic

Condition: not provided
PRPH2-related disorder
Retinal dystrophy
Patterned dystrophy of the retinal pigment epithelium
Vitelliform macular dystrophy 2
Stargardt disease
Vitelliform macular dystrophy 3

Criteria Provided
Multiple Submitters
No Conflicts

CA122938

rs_61755798

9 SubmittersRCV000084997 RCV000322776 RCV001074849 RCV001250287 RCV001250288 RCV001250286 RCV002508119

NM_000322.5(PRPH2):c.2T>C (p.Met1Thr)

SNV
Germline

Chr6:42722333

Pathogenic/Likely pathogenic

Condition: not provided
Vitelliform macular dystrophy 3
PRPH2-related disorder
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA122940

rs_121918565

5 SubmittersRCV000084961 RCV002508120 RCV002513033 RCV004814901

NM_000322.5(PRPH2):c.947G>A (p.Trp316Ter)

SNV
Germline

Chr6:42698389

Pathogenic

Condition: not provided
Vitelliform macular dystrophy 3

No Assertion Criteria Provided

CA122942

rs_121918566

3 SubmittersRCV000085035 RCV002508121

NM_000322.5(PRPH2):c.136C>T (p.Arg46Ter)

SNV
Germline

Chr6:42722199

Pathogenic/Likely pathogenic

Retinitis pigmentosa 7
Condition: not provided
Patterned macular dystrophy 1
PRPH2-related disorder
Retinal dystrophy
Stargardt disease
Patterned dystrophy of the retinal pigment epithelium
Choroidal dystrophy, central areolar 2
Retinitis pigmentosa 40

Criteria Provided
Multiple Submitters
No Conflicts

CA226209

rs_61755771

16 SubmittersRCV000014067 RCV000084955 RCV000987699 RCV001039794 RCV001075450 RCV001250276 RCV001250291 RCV003987319 RCV006697993

NM_000322.5(PRPH2):c.518A>T (p.Asp173Val)

SNV
Germline

Chr6:42721817

Pathogenic

Retinitis pigmentosa 7
Condition: not provided
PRPH2-related disorder

Criteria Provided
Single Submitter

CA226248

rs_61755794

4 SubmittersRCV000014069 RCV000084983 RCV005089248

NM_000322.5(PRPH2):c.584G>T (p.Arg195Leu)

SNV
Germline

Chr6:42704609

Pathogenic

Choroidal dystrophy, central areolar 2
Condition: not provided
PRPH2-related disorder
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA122944

rs_121918567

6 SubmittersRCV000014070 RCV000084990 RCV002513034 RCV004814903

NM_000322.5(PRPH2):c.424C>T (p.Arg142Trp)

SNV
Germline

Chr6:42721911

Pathogenic/Likely pathogenic

Choroidal dystrophy, central areolar 2
Condition: not provided
Cone dystrophy
Progressive cone dystrophy (without rod involvement)
PRPH2-related disorder
maculopathy
Retinal dystrophy
Patterned macular dystrophy 1
Patterned dystrophy of the retinal pigment epithelium
Stargardt disease
Retinitis pigmentosa

Criteria Provided
Multiple Submitters
No Conflicts

CA122946

rs_61755783

19 SubmittersRCV000014071 RCV000084971 RCV000678606 RCV000787661 RCV001061048 RCV001003149 RCV001075677 RCV001353001 RCV001250319 RCV001250318 RCV001250320

NM_000322.5(PRPH2):c.202G>A (p.Gly68Arg)

SNV
Germline

Chr6:42722133

Pathogenic

Condition: not provided
PRPH2-related disorder

Criteria Provided
Single Submitter

CA226216

rs_61755774

2 SubmittersRCV000084959 RCV001857415

NM_000322.5(PRPH2):c.249C>T (p.Tyr83=)

SNV
Germline

Chr6:42722086

Conflicting classifications of pathogenicity

Condition: not provided
PRPH2-related disorder
Adult-onset foveomacular vitelliform dystrophy
Choroidal dystrophy, central areolar 2
Patterned macular dystrophy 1
Retinitis pigmentosa
not specified
Pigmentary retinal dystrophy
Cone-rod dystrophy
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA226218

rs_61755775

8 SubmittersRCV000084960 RCV001086017 RCV001165122 RCV001158408 RCV001158409 RCV001165124 RCV001699036 RCV001158410 RCV001165123 RCV003888453

NM_000322.5(PRPH2):c.37C>T (p.Arg13Trp)

SNV
Germline

Chr6:42722298

Conflicting classifications of pathogenicity

PRPH2-related disorder
Choroidal dystrophy, central areolar 2
Adult-onset foveomacular vitelliform dystrophy
Pigmentary retinal dystrophy
Retinitis pigmentosa
Cone-rod dystrophy
Patterned macular dystrophy 1
Retinal dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA226230

rs_61754402

9 SubmittersRCV001078785 RCV001165228 RCV001165230 RCV001158514 RCV001165229 RCV001165231 RCV001165232 RCV003888454 RCV000084967

NM_000322.5(PRPH2):c.421T>C (p.Tyr141His)

SNV
Germline

Chr6:42721914

Pathogenic/Likely pathogenic

Condition: not provided
PRPH2-related disorder
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA226232

rs_61755780

4 SubmittersRCV000084968 RCV002513911 RCV004815030

NM_000322.5(PRPH2):c.422A>G (p.Tyr141Cys)

SNV
Germline

Chr6:42721913

Pathogenic/Likely pathogenic

PRPH2-related disorder
Retinal dystrophy
Stargardt disease
Cone-rod dystrophy
Patterned dystrophy of the retinal pigment epithelium
Autosomal recessive bestrophinopathy
Retinitis pigmentosa
Vitelliform macular dystrophy 3
Choroidal dystrophy, central areolar 2
Vitelliform macular dystrophy 3
Retinitis pigmentosa 7
Pigmentary retinal dystrophy
Patterned macular dystrophy 1
Condition: not provided
Patterned macular dystrophy 1

Criteria Provided
Multiple Submitters
No Conflicts

CA185988

rs_61755781

12 SubmittersRCV001051727 RCV001074856 RCV001250306 RCV001250317 RCV001250316 RCV001353037 RCV001723663 RCV002508140 RCV005031577 RCV000084969 RCV000161145

NM_000322.5(PRPH2):c.458A>G (p.Lys153Arg)

SNV
Germline

Chr6:42721877

Pathogenic/Likely pathogenic

Condition: not provided
PRPH2-related disorder
Retinitis pigmentosa
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA226236

rs_61755785

7 SubmittersRCV000084973 RCV001315051 RCV003238719 RCV004815032

NM_000322.5(PRPH2):c.469G>A (p.Asp157Asn)

SNV
Germline

Chr6:42721866

Pathogenic/Likely pathogenic

Condition: not provided
Blurred vision
Pigmentary retinopathy
Macular degeneration
Abnormal retinal pigmentation
Retinal dystrophy
Stargardt disease
Pigmentary retinal dystrophy
PRPH2-related disorder
Retinitis pigmentosa

Criteria Provided
Multiple Submitters
No Conflicts

CA226238

rs_61755787

7 SubmittersRCV000084975 RCV000626661 RCV001074377 RCV001250326 RCV001270171 RCV001378482 RCV001250327

NM_000322.5(PRPH2):c.494G>A (p.Cys165Tyr)

SNV
Germline

Chr6:42721841

Pathogenic

Condition: not provided
PRPH2-related disorder

Criteria Provided
Single Submitter

CA226240

rs_61755788

3 SubmittersRCV000084976 RCV001388978

NM_000322.5(PRPH2):c.514C>G (p.Arg172Gly)

SNV
Germline

Chr6:42721821

Likely pathogenic

Condition: not provided

No Assertion Criteria Provided

CA226246

rs_61755792

2 SubmittersRCV000084980

NM_000322.5(PRPH2):c.533A>G (p.Gln178Arg)

SNV
Germline

Chr6:42721802

Conflicting classifications of pathogenicity

Condition: not provided
PRPH2-related disorder
Retinitis pigmentosa 7
Choroidal dystrophy, central areolar 2

Criteria Provided
Conflicting Classifications

CA226250

rs_61755795

5 SubmittersRCV000084984 RCV001854488 RCV005234980 RCV005252746

NM_000322.5(PRPH2):c.535T>C (p.Trp179Arg)

SNV
Germline

Chr6:42721800

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa
PRPH2-related disorder
Retinitis pigmentosa 7

Criteria Provided
Multiple Submitters
No Conflicts

CA226252

rs_61755796

5 SubmittersRCV000084985 RCV001250370 RCV002514515 RCV005252747

NM_000322.5(PRPH2):c.589A>G (p.Lys197Glu)

SNV
Germline

Chr6:42704604

Pathogenic/Likely pathogenic

Condition: not provided
PRPH2-related disorder
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA226259

rs_62645931

6 SubmittersRCV000084991 RCV002514516 RCV003888457

NM_000322.5(PRPH2):c.599T>A (p.Val200Glu)

SNV
Germline

Chr6:42704594

Likely pathogenic

Condition: not provided

No Assertion Criteria Provided

CA226261

rs_62645932

2 SubmittersRCV000084992

NM_000322.5(PRPH2):c.628C>T (p.Pro210Ser)

SNV
Germline

Chr6:42704565

Pathogenic/Likely pathogenic

Condition: not provided
Vitelliform macular dystrophy 2
PRPH2-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA226267

rs_61755797

6 SubmittersRCV000084996 RCV000787666 RCV001381220

NM_000322.5(PRPH2):c.629C>T (p.Pro210Leu)

SNV
Germline

Chr6:42704564

Pathogenic/Likely pathogenic

Condition: not provided
PRPH2-related disorder
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA226269

rs_61755798

5 SubmittersRCV000084998 RCV001381219 RCV003888458

NM_000322.5(PRPH2):c.633C>A (p.Phe211Leu)

SNV
Germline

Chr6:42704560

Pathogenic

Condition: not provided
PRPH2-related disorder

Criteria Provided
Single Submitter

CA226271

rs_61755799

6 SubmittersRCV000084999 RCV001854490

NM_000322.5(PRPH2):c.634A>G (p.Ser212Gly)

SNV
Germline

Chr6:42704559

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa
PRPH2-related disorder
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA226273

rs_61755800

8 SubmittersRCV000085000 RCV000504657 RCV001854491 RCV003888459

NM_000322.5(PRPH2):c.635G>C (p.Ser212Thr)

SNV
Germline

Chr6:42704558

Pathogenic/Likely pathogenic

Condition: not provided
Patterned macular dystrophy 1
Retinal dystrophy
Vitelliform macular dystrophy 2
Adult-onset foveomacular vitelliform dystrophy
PRPH2-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA226275

rs_61755801

9 SubmittersRCV000085001 RCV000987696 RCV001075498 RCV001250290 RCV004799664 RCV001857416

NM_000322.5(PRPH2):c.637T>C (p.Cys213Arg)

SNV
Germline

Chr6:42704556

Pathogenic

Condition: not provided
Leber congenital amaurosis 18
Patterned macular dystrophy 1
PRPH2-related disorder

Criteria Provided
Single Submitter

CA174960

rs_61755802

4 SubmittersRCV000085002 RCV000149469 RCV000149468 RCV001854492

NM_000322.5(PRPH2):c.638G>A (p.Cys213Tyr)

SNV
Germline

Chr6:42704555

Pathogenic/Likely pathogenic

PRPH2-related disorder
Retinal dystrophy
Stargardt disease
Patterned macular dystrophy 1
Retinal disorder
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA226277

rs_61755803

7 SubmittersRCV001052017 RCV001074371 RCV001250308 RCV001542667 RCV006555437 RCV000085003

NM_000322.5(PRPH2):c.641G>A (p.Cys214Tyr)

SNV
Germline

Chr6:42704552

Pathogenic

Condition: not provided
PRPH2-related disorder

Criteria Provided
Single Submitter

CA226279

rs_61755804

3 SubmittersRCV000085004 RCV005089562

NM_000322.5(PRPH2):c.641G>C (p.Cys214Ser)

SNV
Germline

Chr6:42704552

Pathogenic

Condition: not provided

No Assertion Criteria Provided

CA226281

rs_61755804

2 SubmittersRCV000085005

NM_000322.5(PRPH2):c.646C>T (p.Pro216Ser)

SNV
Germline

Chr6:42704547

Pathogenic/Likely pathogenic

Retinitis pigmentosa
PRPH2-related disorder
Retinal dystrophy
Retinal disorder
Retinitis pigmentosa 7
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA226283

rs_61755805

12 SubmittersRCV000787871 RCV001058357 RCV004815033 RCV006253789 RCV006695552 RCV000085006

NM_000322.5(PRPH2):c.656C>G (p.Pro219Arg)

SNV
Germline

Chr6:42704537

Conflicting classifications of pathogenicity

Condition: not provided
PRPH2-related disorder
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA226287

rs_61755808

4 SubmittersRCV000085008 RCV005089563 RCV004815034

NM_000322.5(PRPH2):c.658C>T (p.Arg220Trp)

SNV
Germline

Chr6:42704535

Conflicting classifications of pathogenicity

Condition: not provided
Macular dystrophy
Retinal dystrophy
PRPH2-related disorder
Patterned dystrophy of the retinal pigment epithelium
Vitelliform macular dystrophy 3

Criteria Provided
Conflicting Classifications

CA226291

rs_61755809

11 SubmittersRCV000085010 RCV000787873 RCV001075102 RCV001247286 RCV001250379 RCV002288583

NM_000322.5(PRPH2):c.659G>A (p.Arg220Gln)

SNV
Germline

Chr6:42704534

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa
Retinal dystrophy
PRPH2-related disorder
Retinal disorder
Macular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA226293

rs_61755810

10 SubmittersRCV000085011 RCV001003141 RCV001075618 RCV001346727 RCV006634823 RCV004798773

NM_000322.5(PRPH2):c.708C>T (p.Tyr236=)

SNV
Germline

Chr6:42704485

Conflicting classifications of pathogenicity

Patterned macular dystrophy 1
Cone-rod dystrophy
Retinitis pigmentosa
Pigmentary retinal dystrophy
Choroidal dystrophy, central areolar 2
Adult-onset foveomacular vitelliform dystrophy
PRPH2-related disorder
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA226298

rs_61755813

7 SubmittersRCV001164887 RCV001164886 RCV001159969 RCV001164883 RCV001164884 RCV001164885 RCV001439459 RCV001530323 RCV000085014

NM_000322.5(PRPH2):c.715C>T (p.Gln239Ter)

SNV
Germline

Chr6:42704478

Pathogenic

Condition: not provided
Macular dystrophy
Stargardt disease
PRPH2-related disorder
Patterned dystrophy of the retinal pigment epithelium
Retinal dystrophy
Choroidal dystrophy, central areolar 2

Criteria Provided
Multiple Submitters
No Conflicts

CA226300

rs_61755814

10 SubmittersRCV000085015 RCV000787668 RCV001250335 RCV001386136 RCV001250336 RCV004815035 RCV004760371

NM_000322.5(PRPH2):c.730A>C (p.Asn244His)

SNV
Germline

Chr6:42704463

Pathogenic

Condition: not provided
Retinal dystrophy

Criteria Provided
Single Submitter

CA226302

rs_61755815

3 SubmittersRCV000085016 RCV003888460

NM_000322.5(PRPH2):c.732C>G (p.Asn244Lys)

SNV
Germline

Chr6:42704461

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa

No Assertion Criteria Provided

CA226306

rs_61755816

3 SubmittersRCV000085018 RCV001003139

NM_000322.5(PRPH2):c.736T>C (p.Trp246Arg)

SNV
Germline

Chr6:42704457

Likely pathogenic

Condition: not provided
Retinitis pigmentosa
Vitelliform macular dystrophy 3

Criteria Provided
Single Submitter

CA226307

rs_61755817

5 SubmittersRCV000085019 RCV000132580 RCV003114252

NM_000322.5(PRPH2):c.797G>A (p.Gly266Asp)

SNV
Germline

Chr6:42704396

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa 7
PRPH2-related disorder
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA226312

rs_62645935

8 SubmittersRCV000085022 RCV001705814 RCV002514517 RCV004815036

NM_000322.5(PRPH2):c.802G>A (p.Val268Ile)

SNV
Germline

Chr6:42704391

Conflicting classifications of pathogenicity

Condition: not provided
PRPH2-related disorder
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA226314

rs_62645936

5 SubmittersRCV000085023 RCV003591677 RCV004815037

NM_000322.5(PRPH2):c.80C>T (p.Ser27Phe)

SNV
Germline

Chr6:42722255

Pathogenic/Likely pathogenic

Condition: not provided
Retinal dystrophy
PRPH2-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA226316

rs_61755766

5 SubmittersRCV000085024 RCV001074280 RCV001043298

NM_000322.5(PRPH2):c.828+3A>T

SNV
Germline

Chr6:42704362

Pathogenic

PRPH2-related disorder
Retinal dystrophy
Choroideremia
Cone-rod dystrophy
Retinitis pigmentosa
Stargardt disease
Doyne honeycomb retinal dystrophy
Patterned dystrophy of the retinal pigment epithelium
Vitelliform macular dystrophy 2
Patterned macular dystrophy 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA226319

rs_281865373

10 SubmittersRCV001047656 RCV001073686 RCV001250345 RCV001250359 RCV001250357 RCV001250344 RCV001250358 RCV001250346 RCV001250347 RCV001542666 RCV000085026

NM_000322.5(PRPH2):c.855C>A (p.Tyr285Ter)

SNV
Germline

Chr6:42698481

Pathogenic

Condition: not provided
PRPH2-related disorder

Criteria Provided
Single Submitter

CA226320

rs_62645938

3 SubmittersRCV000085027 RCV001854493

NM_000322.5(PRPH2):c.866C>T (p.Ser289Leu)

SNV
Germline

Chr6:42698470

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa
Stargardt disease
PRPH2-related disorder
Retinal dystrophy
Retinitis pigmentosa 7
Pigmentary retinal dystrophy
Patterned macular dystrophy 1
Vitelliform macular dystrophy 3
Choroidal dystrophy, central areolar 2

Criteria Provided
Conflicting Classifications

CA226322

rs_62645939

11 SubmittersRCV000085028 RCV001161271 RCV001250360 RCV001438086 RCV004815038 RCV005394359

NM_000322.5(PRPH2):c.904G>T (p.Glu302Ter)

SNV
Germline

Chr6:42698432

Pathogenic/Likely pathogenic

Condition: not provided
Vitelliform macular dystrophy 2
Adult-onset foveomacular vitelliform dystrophy
Retinal dystrophy
Vitelliform macular dystrophy 3

Criteria Provided
Multiple Submitters
No Conflicts

CA226324

rs_61748430

5 SubmittersRCV000085030 RCV001199527 RCV001253500 RCV004815039 RCV006252436

NM_000322.5(PRPH2):c.914G>A (p.Gly305Asp)

SNV
Germline

Chr6:42698422

Conflicting classifications of pathogenicity

Condition: not provided
PRPH2-related disorder
not specified
Choroidal dystrophy, central areolar 2

Criteria Provided
Conflicting Classifications

CA226326

rs_61748432

5 SubmittersRCV000085031 RCV001857417 RCV002247484 RCV003324505

NM_000322.5(PRPH2):c.938C>T (p.Pro313Leu)

SNV
Germline

Chr6:42698398

Conflicting classifications of pathogenicity

Condition: not provided
Adult-onset foveomacular vitelliform dystrophy
Patterned macular dystrophy 1
Pigmentary retinal dystrophy
Cone-rod dystrophy
Choroidal dystrophy, central areolar 2
PRPH2-related disorder
Retinitis pigmentosa
Stargardt disease
Patterned dystrophy of the retinal pigment epithelium
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA226331

rs_61748434

9 SubmittersRCV000085034 RCV000261808 RCV000298015 RCV000356624 RCV000406549 RCV000301680 RCV001066591 RCV000787872 RCV001250365 RCV001250366 RCV004815041

NM_000322.5(PRPH2):c.94A>G (p.Ile32Val)

SNV
Germline

Chr6:42722241

Conflicting classifications of pathogenicity

Condition: not provided
Stargardt disease
Vitelliform macular dystrophy 3
PRPH2-related disorder
not specified
Retinal dystrophy
Optic atrophy
Retinitis pigmentosa 7
Pigmentary retinal dystrophy
Patterned macular dystrophy 1
Choroidal dystrophy, central areolar 2
Vitelliform macular dystrophy 3

Criteria Provided
Conflicting Classifications

CA226333

rs_61755767

9 SubmittersRCV000085036 RCV001250380 RCV001352968 RCV001462596 RCV001530276 RCV003888461 RCV004815042 RCV005394360

NM_000322.5(PRPH2):c.991C>T (p.Gln331Ter)

SNV
Germline

Chr6:42698345

Pathogenic

Condition: not provided
PRPH2-related disorder

Criteria Provided
Single Submitter

CA226336

rs_281865375

3 SubmittersRCV000085038 RCV001854494

NM_000322.5(PRPH2):c.410G>A (p.Gly137Asp)

SNV
Germline

Chr6:42721925

Pathogenic/Likely pathogenic

Retinitis pigmentosa
PRPH2-related disorder
Condition: not provided
Retinal dystrophy
Retinitis pigmentosa 7

Criteria Provided
Multiple Submitters
No Conflicts

CA270013

rs_527236097

5 SubmittersRCV000132578 RCV001388979 RCV001530286 RCV001074625 RCV005252764

NM_000322.5(PRPH2):c.499G>A (p.Gly167Ser)

SNV
Germline

Chr6:42721836

Pathogenic/Likely pathogenic

Retinitis pigmentosa
Condition: not provided
PRPH2-related disorder
Retinal dystrophy
Stargardt disease

Criteria Provided
Multiple Submitters
No Conflicts

CA270015

rs_527236098

11 SubmittersRCV000132579 RCV000438661 RCV001055454 RCV001073378 RCV001250331

NM_000322.5(PRPH2):c.497G>A (p.Cys166Tyr)

SNV
Germline

Chr6:42721838

Conflicting classifications of pathogenicity

Condition: not provided
Retinal dystrophy
PRPH2-related disorder

Criteria Provided
Conflicting Classifications

CA236256

rs_786205579

5 SubmittersRCV000171395 RCV001073434 RCV002517650

NM_000322.5(PRPH2):c.725A>G (p.Glu242Gly)

SNV
Germline

Chr6:42704468

Conflicting classifications of pathogenicity

Condition: not provided
Stargardt disease
PRPH2-related disorder
Usher syndrome

Criteria Provided
Conflicting Classifications

CA241332

rs_542296728

6 SubmittersRCV000175581 RCV001250337 RCV001463523 RCV003389460

NM_000322.5(PRPH2):c.801C>T (p.Val267=)

SNV
Germline

Chr6:42704392

Conflicting classifications of pathogenicity

not specified
Retinitis pigmentosa
Pigmentary retinal dystrophy
Patterned macular dystrophy 1
Choroidal dystrophy, central areolar 2
Cone-rod dystrophy
Adult-onset foveomacular vitelliform dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3808535

rs_189358082

3 SubmittersRCV000248113 RCV000281424 RCV000315389 RCV000336463 RCV000369961 RCV000406240 RCV000391588 RCV000945845

NM_000322.5(PRPH2):c.367C>T (p.Arg123Trp)

SNV
Germline

Chr6:42721968

Conflicting classifications of pathogenicity

Condition: not provided
PRPH2-related disorder
Pigmentary retinal dystrophy
Cone-rod dystrophy
Patterned macular dystrophy 1
Retinitis pigmentosa
Adult-onset foveomacular vitelliform dystrophy
Choroidal dystrophy, central areolar 2
Retinitis pigmentosa 7
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA3808629

rs_563581127

7 SubmittersRCV000403427 RCV000791184 RCV001165011 RCV001165012 RCV001165007 RCV001165008 RCV001165009 RCV001165010 RCV004720250 RCV004816502

NM_000322.5(PRPH2):c.*1687C>T

SNV
Germline

Chr6:42696608

Conflicting classifications of pathogenicity

Cone-rod dystrophy
Patterned macular dystrophy 1
Retinitis pigmentosa
Adult-onset foveomacular vitelliform dystrophy
Choroidal dystrophy, central areolar 2
Pigmentary retinal dystrophy

Criteria Provided
Conflicting Classifications

CA10623892

rs_139177846

1 SubmittersRCV000265951 RCV000288235 RCV000324365 RCV000328104 RCV000358091 RCV000384861

NM_000322.5(PRPH2):c.*797G>A

SNV
Germline

Chr6:42697498

Conflicting classifications of pathogenicity

Adult-onset foveomacular vitelliform dystrophy
Cone-rod dystrophy
Choroidal dystrophy, central areolar 2
Patterned macular dystrophy 1
Pigmentary retinal dystrophy
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA10623927

rs_188694434

1 SubmittersRCV000282855 RCV000289095 RCV000323813 RCV000344096 RCV000378833 RCV000384684

NM_000322.5(PRPH2):c.1008C>T (p.Gly336=)

SNV
Germline

Chr6:42698328

Conflicting classifications of pathogenicity

Patterned macular dystrophy 1
Choroidal dystrophy, central areolar 2
Adult-onset foveomacular vitelliform dystrophy
Retinitis pigmentosa
Pigmentary retinal dystrophy
Cone-rod dystrophy
PRPH2-related disorder
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA3808464

rs_752365478

3 SubmittersRCV000290210 RCV000305394 RCV000341580 RCV000345147 RCV000376706 RCV000407997 RCV001424704 RCV004816605

NM_000322.5(PRPH2):c.252C>T (p.Asp84=)

SNV
Germline

Chr6:42722083

Conflicting classifications of pathogenicity

Patterned macular dystrophy 1
Cone-rod dystrophy
Adult-onset foveomacular vitelliform dystrophy
Pigmentary retinal dystrophy
Choroidal dystrophy, central areolar 2
Retinitis pigmentosa
PRPH2-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3808644

rs_139936445

3 SubmittersRCV000265544 RCV000305456 RCV000301917 RCV000356577 RCV000360203 RCV000403799 RCV001484194 RCV003422345

NM_000322.5(PRPH2):c.*1565G>A

SNV
Germline

Chr6:42696730

Conflicting classifications of pathogenicity

Adult-onset foveomacular vitelliform dystrophy
Cone-rod dystrophy
Retinitis pigmentosa
Choroidal dystrophy, central areolar 2
Patterned macular dystrophy 1
Pigmentary retinal dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10626750

rs_41273818

2 SubmittersRCV000304416 RCV000303237 RCV000334298 RCV000361524 RCV000395085 RCV000406284 RCV003311779

NM_000322.5(PRPH2):c.*20C>T

SNV
Germline

Chr6:42698275

Conflicting classifications of pathogenicity

Adult-onset foveomacular vitelliform dystrophy
Patterned macular dystrophy 1
Retinitis pigmentosa
Choroidal dystrophy, central areolar 2
Pigmentary retinal dystrophy
Cone-rod dystrophy

Criteria Provided
Conflicting Classifications

CA3808450

rs_180775924

1 SubmittersRCV000301789 RCV000305101 RCV000336826 RCV000340291 RCV000393145 RCV000403264

NM_000322.5(PRPH2):c.649A>G (p.Ser217Gly)

SNV
Germline

Chr6:42704544

Conflicting classifications of pathogenicity

Patterned dystrophy of the retinal pigment epithelium
PRPH2-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3808563

rs_767471467

3 SubmittersRCV001250375 RCV001318786 RCV001530369

NM_000322.5(PRPH2):c.312C>T (p.Ile104=)

SNV
Germline

Chr6:42722023

Conflicting classifications of pathogenicity

Adult-onset foveomacular vitelliform dystrophy
Pigmentary retinal dystrophy
Patterned macular dystrophy 1
Cone-rod dystrophy
Choroidal dystrophy, central areolar 2
Retinitis pigmentosa
PRPH2-related disorder
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA3808636

rs_200009675

3 SubmittersRCV000295006 RCV000309085 RCV000349955 RCV000363735 RCV000406712 RCV000406713 RCV002058610 RCV003888843

NM_000322.5(PRPH2):c.748T>A (p.Cys250Ser)

SNV
Germline

Chr6:42704445

Pathogenic/Likely pathogenic

Condition: not provided
Stargardt disease
PRPH2-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA16618285

rs_1064793931

4 SubmittersRCV000479139 RCV001250338 RCV002525801

NM_000322.5(PRPH2):c.522G>C (p.Trp174Cys)

SNV
Germline

Chr6:42721813

Conflicting classifications of pathogenicity

Condition: not provided
Retinal dystrophy
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA16618286

rs_1064793237

4 SubmittersRCV000479816 RCV001075073 RCV001250369

NM_000322.5(PRPH2):c.425G>A (p.Arg142Gln)

SNV
Germline

Chr6:42721910

Conflicting classifications of pathogenicity

Condition: not provided
PRPH2-related disorder
Stargardt disease

Criteria Provided
Conflicting Classifications

CA3808615

rs_554945964

4 SubmittersRCV000486555 RCV001302351 RCV001250321

NM_000322.5(PRPH2):c.303C>G (p.Tyr101Ter)

SNV
Germline

Chr6:42722032

Pathogenic

Condition: not provided
Retinitis pigmentosa

Criteria Provided
Multiple Submitters
No Conflicts

CA16618287

rs_61755776

3 SubmittersRCV000482305 RCV001250297

NM_000322.5(PRPH2):c.653C>T (p.Ser218Leu)

SNV
Germline

Chr6:42704540

Conflicting classifications of pathogenicity

Condition: not provided
Stargardt disease
Isolated macular dystrophy
PRPH2-related disorder
Vitelliform macular dystrophy 3

Criteria Provided
Conflicting Classifications

CA16621838

rs_986748364

4 SubmittersRCV000487688 RCV001199524 RCV001199528 RCV002526003 RCV006695608

NM_000322.5(PRPH2):c.587T>A (p.Ile196Asn)

SNV
Germline

Chr6:42704606

Likely pathogenic

Condition: not provided
Cone-rod dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA364135864

rs_1131691378

3 SubmittersRCV000493047 RCV001250277

NM_000322.5(PRPH2):c.664T>C (p.Cys222Arg)

SNV
Germline

Chr6:42704529

Pathogenic

Retinal dystrophy
Retinitis pigmentosa
PRPH2-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA364135451

rs_1554269053

4 SubmittersRCV000504883 RCV001003140 RCV002524400

NM_000322.5(PRPH2):c.625G>T (p.Val209Phe)

SNV
Germline

Chr6:42704568

Pathogenic/Likely pathogenic

Macular dystrophy
Condition: not provided

No Assertion Criteria Provided

CA364135650

rs_753657349

2 SubmittersRCV000505051 RCV001530313

NM_000322.5(PRPH2):c.623G>A (p.Gly208Asp)

SNV
Germline

Chr6:42704570

Conflicting classifications of pathogenicity

Macular dystrophy
Retinal dystrophy
Patterned macular dystrophy 1
PRPH2-related disorder
Stargardt disease
Condition: not provided
Pigmentary retinal dystrophy
Choroidal dystrophy, central areolar 2
Retinitis pigmentosa 40

Criteria Provided
Conflicting Classifications

CA3808568

rs_139185976

13 SubmittersRCV000504827 RCV001074827 RCV000787665 RCV001051123 RCV001250285 RCV001530240 RCV002248741 RCV004787813 RCV006707682

NM_000322.5(PRPH2):c.636C>G (p.Ser212Arg)

SNV
Germline

Chr6:42704557

Pathogenic

Adult-onset foveomacular vitelliform dystrophy
PRPH2-related disorder

Criteria Provided
Single Submitter

CA364135600

rs_1554269071

2 SubmittersRCV000505604 RCV003757183

NM_000322.5(PRPH2):c.948G>A (p.Trp316Ter)

SNV
Germline

Chr6:42698388

Pathogenic/Likely pathogenic

Condition: not provided
PRPH2-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA364132977

rs_1554268521

4 SubmittersRCV000585391 RCV001867900

NM_000322.5(PRPH2):c.692C>A (p.Ser231Ter)

SNV
Germline

Chr6:42704501

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA364135287

rs_1554269046

1 SubmittersRCV000584864

NM_000322.5(PRPH2):c.888C>T (p.Pro296=)

SNV
Germline

Chr6:42698448

Conflicting classifications of pathogenicity

Condition: not provided
Pigmentary retinal dystrophy
Adult-onset foveomacular vitelliform dystrophy
Retinitis pigmentosa
Choroidal dystrophy, central areolar 2
PRPH2-related disorder
Patterned macular dystrophy 1
Cone-rod dystrophy

Criteria Provided
Conflicting Classifications

CA3808492

rs_183714869

3 SubmittersRCV000594269 RCV001161265 RCV001161266 RCV001161268 RCV001161270 RCV001468812 RCV001161267 RCV001161269

NM_000322.5(PRPH2):c.612C>G (p.Tyr204Ter)

SNV
Germline

Chr6:42704581

Pathogenic

Condition: not provided
Retinitis pigmentosa
Retinal dystrophy
PRPH2-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA364135722

rs_1554269081

6 SubmittersRCV000627208 RCV001003144 RCV001074257 RCV001389850

NM_000322.5(PRPH2):c.584G>A (p.Arg195Gln)

SNV
Germline

Chr6:42704609

Pathogenic/Likely pathogenic

Cone-rod dystrophy
Patterned macular dystrophy 1
PRPH2-related disorder
Patterned dystrophy of the retinal pigment epithelium
Condition: not provided
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA364135876

rs_121918567

6 SubmittersRCV000761334 RCV000987697 RCV001047360 RCV001250356 RCV001530357 RCV004817971

NM_000322.5(PRPH2):c.676C>T (p.Gln226Ter)

SNV
Germline

Chr6:42704517

Pathogenic

Retinitis pigmentosa
Condition: not provided
Retinal dystrophy
PRPH2-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA364135378

rs_61755811

4 SubmittersRCV000787667 RCV001530251 RCV004818011 RCV006464235

NM_000322.5(PRPH2):c.478C>T (p.Gln160Ter)

SNV
Germline

Chr6:42721857

Likely pathogenic

Retinal dystrophy
Stargardt disease
Condition: not provided

Criteria Provided
Single Submitter

CA364137468

rs_1582780550

3 SubmittersRCV000787662 RCV001250328 RCV001530345

NM_000322.5(PRPH2):c.995T>A (p.Val332Glu)

SNV
Germline

Chr6:42698341

Conflicting classifications of pathogenicity

Macular dystrophy
PRPH2-related disorder
Cone-rod dystrophy
Condition: not provided
Vitelliform macular dystrophy 3

Criteria Provided
Conflicting Classifications

CA364132724

rs_1582759492

5 SubmittersRCV000787868 RCV001248001 RCV001250383 RCV001530393 RCV006704866

NM_000322.5(PRPH2):c.652T>C (p.Ser218Pro)

SNV
Germline

Chr6:42704541

Pathogenic

Retinitis pigmentosa
Condition: not provided
PRPH2-related disorder

Criteria Provided
Single Submitter

CA364135508

rs_1582764878

3 SubmittersRCV000787870 RCV001530370 RCV001869193

NM_000322.5(PRPH2):c.483C>G (p.Ile161Met)

SNV
Germline

Chr6:42721852

Conflicting classifications of pathogenicity

PRPH2-related disorder
Stargardt disease
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3808606

rs_76989855

5 SubmittersRCV000878664 RCV001250329 RCV001530346

NM_000322.5(PRPH2):c.829-4C>G

SNV
Germline

Chr6:42698511

Pathogenic

Patterned macular dystrophy 1
PRPH2-related disorder
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA915944250

rs_1582759785

3 SubmittersRCV000987694 RCV001039037 RCV001530261

NM_000322.5(PRPH2):c.737G>A (p.Trp246Ter)

SNV
Unknown

Chr6:42704456

Pathogenic

Patterned macular dystrophy 1

Criteria Provided
Single Submitter

CA364135041

rs_1582764697

1 SubmittersRCV000987695

NM_000322.5(PRPH2):c.227C>A (p.Ser76Ter)

SNV
Germline

Chr6:42722108

Pathogenic

Patterned macular dystrophy 1
PRPH2-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA364138254

rs_1203908646

2 SubmittersRCV000987698 RCV002550603

NM_000322.5(PRPH2):c.927G>T (p.Glu309Asp)

SNV
Germline

Chr6:42698409

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided
PRPH2-related disorder
Patterned macular dystrophy 1
Choroidal dystrophy, central areolar 2
Retinitis pigmentosa 7
Pigmentary retinal dystrophy
Vitelliform macular dystrophy 3
Retinal dystrophy
Retinitis pigmentosa 7
Pigmentary retinal dystrophy

Criteria Provided
Conflicting Classifications

CA3808480

rs_759011231

7 SubmittersRCV001003136 RCV001530337 RCV001860530 RCV005394618 RCV004818142 RCV006249387

NM_000322.5(PRPH2):c.794T>G (p.Met265Arg)

SNV
Germline

Chr6:42704399

Likely pathogenic

Patterned macular dystrophy 1
Condition: not provided

No Assertion Criteria Provided

CA364134729

rs_1582764600

2 SubmittersRCV001003138 RCV001530384

NM_000322.5(PRPH2):c.594C>G (p.Ser198Arg)

SNV
Germline

Chr6:42704599

Pathogenic/Likely pathogenic

Retinitis pigmentosa
Condition: not provided

No Assertion Criteria Provided

CA364135819

rs_375978676

2 SubmittersRCV001003145 RCV001530230

NM_000322.5(PRPH2):c.518A>C (p.Asp173Ala)

SNV
Germline

Chr6:42721817

Pathogenic/Likely pathogenic

Retinitis pigmentosa
PRPH2-related disorder
Condition: not provided
Retinitis pigmentosa 7

Criteria Provided
Multiple Submitters
No Conflicts

CA364137383

rs_61755794

4 SubmittersRCV001003146 RCV001379736 RCV001530227 RCV002250712

NM_000322.5(PRPH2):c.738G>A (p.Trp246Ter)

SNV
Germline

Chr6:42704455

Pathogenic

Condition: not provided
Cone-rod dystrophy
PRPH2-related disorder
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA364135033

rs_1800111659

4 SubmittersRCV001093084 RCV001199526 RCV002551709 RCV004818152

NM_000322.5(PRPH2):c.653C>A (p.Ser218Ter)

SNV
Germline

Chr6:42704540

Pathogenic/Likely pathogenic

Retinal dystrophy
Condition: not provided
Retinitis pigmentosa
PRPH2-related disorder
Patterned dystrophy of the retinal pigment epithelium

Criteria Provided
Multiple Submitters
No Conflicts

CA364135499

rs_986748364

7 SubmittersRCV001073873 RCV001093085 RCV001199523 RCV001202274 RCV001250377

NM_000322.5(PRPH2):c.582-1G>C

SNV
Germline

Chr6:42704612

Pathogenic

Condition: not provided
Vitelliform macular dystrophy 2

Criteria Provided
Multiple Submitters
No Conflicts

CA364135894

rs_1800118693

2 SubmittersRCV001093086 RCV001199529

NM_000322.5(PRPH2):c.273T>A (p.Tyr91Ter)

SNV
Germline

Chr6:42722062

Pathogenic

Central areolar choroidal dystrophy

Criteria Provided
Single Submitter

CA364138058

rs_1761914145

1 SubmittersRCV001199520

NM_000322.5(PRPH2):c.683C>T (p.Thr228Ile)

SNV
Germline

Chr6:42704510

Likely pathogenic

PRPH2-related disorder
Patterned dystrophy of the retinal pigment epithelium
Stargardt disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA3808552

rs_369507460

3 SubmittersRCV001051591 RCV001250315 RCV001250332 RCV001530252

NM_000322.5(PRPH2):c.659G>C (p.Arg220Pro)

SNV
Germline

Chr6:42704534

Pathogenic/Likely pathogenic

PRPH2-related disorder
Patterned dystrophy of the retinal pigment epithelium
Retinitis pigmentosa
Condition: not provided
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA364135472

rs_61755810

4 SubmittersRCV001067304 RCV001250312 RCV001250311 RCV001530244 RCV004813695

NM_000322.5(PRPH2):c.646C>G (p.Pro216Ala)

SNV
Germline

Chr6:42704547

Pathogenic/Likely pathogenic

PRPH2-related disorder
Retinal dystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA364135543

rs_61755805

4 SubmittersRCV001046921 RCV001074972 RCV001530366

NM_000322.5(PRPH2):c.622G>A (p.Gly208Ser)

SNV
Germline

Chr6:42704571

Likely pathogenic

PRPH2-related disorder

Criteria Provided
Single Submitter

CA138171873

rs_901479607

1 SubmittersRCV001067892

NM_000322.5(PRPH2):c.454A>G (p.Met152Val)

SNV
Germline

Chr6:42721881

Conflicting classifications of pathogenicity

PRPH2-related disorder
Retinitis pigmentosa
Pigmentary retinal dystrophy
Choroidal dystrophy, central areolar 2
Patterned macular dystrophy 1
Adult-onset foveomacular vitelliform dystrophy
Cone-rod dystrophy
Condition: not provided
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA3808609

rs_146703538

5 SubmittersRCV001050346 RCV001161384 RCV001161386 RCV001162922 RCV001162924 RCV001161385 RCV001162923 RCV001530339 RCV003890189

NM_000322.5(PRPH2):c.290G>A (p.Trp97Ter)

SNV
Germline

Chr6:42722045

Pathogenic

PRPH2-related disorder

Criteria Provided
Single Submitter

CA364137994

rs_1761913693

1 SubmittersRCV001067713

NM_000322.5(PRPH2):c.771C>G (p.Tyr257Ter)

SNV
Germline

Chr6:42704422

Pathogenic/Likely pathogenic

Retinal dystrophy
Condition: not provided
PRPH2-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA364134862

rs_1800110757

3 SubmittersRCV001075111 RCV001530380 RCV003757215

NM_000322.5(PRPH2):c.749G>T (p.Cys250Phe)

SNV
Germline

Chr6:42704444

Pathogenic/Likely pathogenic

Retinal dystrophy
Condition: not provided
PRPH2-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA364134976

rs_1458793437

3 SubmittersRCV001073397 RCV001530374 RCV006465297

NM_000322.5(PRPH2):c.708C>G (p.Tyr236Ter)

SNV
Germline

Chr6:42704485

Pathogenic/Likely pathogenic

Retinal dystrophy
Patterned dystrophy of the retinal pigment epithelium
Stargardt disease
Condition: not provided
PRPH2-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA364135198

rs_61755813

5 SubmittersRCV001075315 RCV001250333 RCV001250334 RCV001530324 RCV001386137

NM_000322.5(PRPH2):c.665G>T (p.Cys222Phe)

SNV
Germline

Chr6:42704528

Likely pathogenic

Retinal dystrophy

Criteria Provided
Single Submitter

CA364135442

rs_1442844778

1 SubmittersRCV001073235

NM_000322.5(PRPH2):c.665G>C (p.Cys222Ser)

SNV
Germline

Chr6:42704528

Conflicting classifications of pathogenicity

Retinal dystrophy
Condition: not provided
PRPH2-related disorder

Criteria Provided
Conflicting Classifications

CA364135444

rs_1442844778

4 SubmittersRCV001075398 RCV001530248 RCV001386138

NM_000322.5(PRPH2):c.665G>A (p.Cys222Tyr)

SNV
Germline

Chr6:42704528

Conflicting classifications of pathogenicity

Retinal dystrophy
PRPH2-related disorder
Stargardt disease
Condition: not provided

Criteria Provided
Conflicting Classifications

CA364135446

rs_1442844778

4 SubmittersRCV001075038 RCV001228233 RCV001250313 RCV001530249

NM_000322.5(PRPH2):c.537G>T (p.Trp179Cys)

SNV
Germline

Chr6:42721798

Pathogenic/Likely pathogenic

Retinal dystrophy
PRPH2-related disorder
Patterned dystrophy of the retinal pigment epithelium
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA3808597

rs_779414078

5 SubmittersRCV001075367 RCV001213611 RCV001250371 RCV001530303

NM_000322.5(PRPH2):c.518A>G (p.Asp173Gly)

SNV
Germline

Chr6:42721817

Likely pathogenic

Retinal dystrophy
PRPH2-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA364137382

rs_61755794

2 SubmittersRCV001074888 RCV006612592

NM_000322.5(PRPH2):c.476T>G (p.Leu159Arg)

SNV
Germline

Chr6:42721859

Conflicting classifications of pathogenicity

Retinal dystrophy
PRPH2-related disorder

Criteria Provided
Conflicting Classifications

CA364137471

rs_1761907993

2 SubmittersRCV001075561 RCV001213778

NM_000322.5(PRPH2):c.246C>A (p.Cys82Ter)

SNV
Germline

Chr6:42722089

Pathogenic/Likely pathogenic

Retinal dystrophy
Stargardt disease
Condition: not provided
PRPH2-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA364138153

rs_1242862941

4 SubmittersRCV001073624 RCV001250293 RCV001530300 RCV001862510

NM_000322.5(PRPH2):c.28C>T (p.Gln10Ter)

SNV
Germline

Chr6:42722307

Likely pathogenic

Retinal dystrophy

Criteria Provided
Single Submitter

CA364138925

rs_1761921113

1 SubmittersRCV001073237

NM_000322.5(PRPH2):c.581+1G>A

SNV
Germline

Chr6:42721753

Pathogenic/Likely pathogenic

Retinal dystrophy
Condition: not provided
PRPH2-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA364137089

rs_1761904690

5 SubmittersRCV001074831 RCV001530310 RCV001862577

NM_000322.5(PRPH2):c.*1079G>A

SNV
Germline

Chr6:42697216

Conflicting classifications of pathogenicity

Cone-rod dystrophy
Pigmentary retinal dystrophy
Adult-onset foveomacular vitelliform dystrophy
Patterned macular dystrophy 1
Choroidal dystrophy, central areolar 2
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA138165855

rs_572613522

1 SubmittersRCV001159042 RCV001159043 RCV001160384 RCV001160385 RCV001160386 RCV001160387

NM_000322.5(PRPH2):c.*509G>A

SNV
Germline

Chr6:42697786

Conflicting classifications of pathogenicity

Patterned macular dystrophy 1
Adult-onset foveomacular vitelliform dystrophy
Cone-rod dystrophy
Pigmentary retinal dystrophy
Choroidal dystrophy, central areolar 2
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA138166131

rs_56194662

1 SubmittersRCV001162319 RCV001162320 RCV001162322 RCV001162321 RCV001162323 RCV001162324

NM_000322.5(PRPH2):c.*152G>A

SNV
Germline

Chr6:42698143

Conflicting classifications of pathogenicity

Patterned macular dystrophy 1
Retinitis pigmentosa
Adult-onset foveomacular vitelliform dystrophy
Pigmentary retinal dystrophy
Cone-rod dystrophy
Choroidal dystrophy, central areolar 2

Criteria Provided
Conflicting Classifications

CA138166355

rs_113384495

1 SubmittersRCV001160912 RCV001160913 RCV001160914 RCV001160909 RCV001160911 RCV001160910

NM_000322.5(PRPH2):c.955T>C (p.Phe319Leu)

SNV
Germline

Chr6:42698381

Conflicting classifications of pathogenicity

Pigmentary retinal dystrophy
Retinitis pigmentosa
Choroidal dystrophy, central areolar 2
Patterned macular dystrophy 1
Cone-rod dystrophy
Adult-onset foveomacular vitelliform dystrophy
PRPH2-related disorder
Condition: not provided
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA3808471

rs_139329966

4 SubmittersRCV001159755 RCV001159752 RCV001159753 RCV001159754 RCV001164673 RCV001164674 RCV001359073 RCV001530390 RCV003890320

NM_000322.5(PRPH2):c.852C>A (p.Arg284=)

SNV
Germline

Chr6:42698484

Conflicting classifications of pathogenicity

Adult-onset foveomacular vitelliform dystrophy
Choroidal dystrophy, central areolar 2
Retinitis pigmentosa
Pigmentary retinal dystrophy
Cone-rod dystrophy
Patterned macular dystrophy 1
PRPH2-related disorder

Criteria Provided
Conflicting Classifications

CA3808497

rs_745807357

2 SubmittersRCV001162822 RCV001162824 RCV001162823 RCV001162825 RCV001161272 RCV001162826 RCV002558532

NM_000322.5(PRPH2):c.346G>T (p.Ala116Ser)

SNV
Germline

Chr6:42721989

Conflicting classifications of pathogenicity

Patterned macular dystrophy 1
Cone-rod dystrophy
Choroidal dystrophy, central areolar 2
Pigmentary retinal dystrophy
Retinitis pigmentosa
Adult-onset foveomacular vitelliform dystrophy
Condition: not provided
Retinal dystrophy
Retinitis pigmentosa 7

Criteria Provided
Conflicting Classifications

CA3808632

rs_140227298

4 SubmittersRCV001158294 RCV001158296 RCV001158293 RCV001158295 RCV001158297 RCV001165013 RCV001530223 RCV003890315 RCV006634929

NM_000322.5(PRPH2):c.44A>G (p.Lys15Arg)

SNV
Germline

Chr6:42722291

Conflicting classifications of pathogenicity

Pigmentary retinal dystrophy
Adult-onset foveomacular vitelliform dystrophy
Choroidal dystrophy, central areolar 2
Cone-rod dystrophy
Patterned macular dystrophy 1
Retinitis pigmentosa
Condition: not provided
Retinal dystrophy
PRPH2-related disorder

Criteria Provided
Conflicting Classifications

CA3808674

rs_555112175

4 SubmittersRCV001163149 RCV001163151 RCV001163150 RCV001165225 RCV001165226 RCV001165227 RCV001530272 RCV003890331 RCV002559561

NM_000322.5(PRPH2):c.498C>A (p.Cys166Ter)

SNV
Germline

Chr6:42721837

Pathogenic

Pigmentary retinal dystrophy
PRPH2-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA364137422

rs_759752477

2 SubmittersRCV001198962 RCV003757221

NM_000322.5(PRPH2):c.737G>C (p.Trp246Ser)

SNV
Germline

Chr6:42704456

Likely pathogenic

PRPH2-related disorder
Condition: not provided

Criteria Provided
Single Submitter

CA364135038

rs_1582764697

2 SubmittersRCV001211279 RCV001354608

NM_000322.5(PRPH2):c.731A>G (p.Asn244Ser)

SNV
Germline

Chr6:42704462

Likely pathogenic

PRPH2-related disorder

Criteria Provided
Single Submitter

CA364135067

rs_1582764714

1 SubmittersRCV001209907

NM_000322.5(PRPH2):c.639C>G (p.Cys213Trp)

SNV
Germline

Chr6:42704554

Pathogenic

PRPH2-related disorder
Condition: not provided
Patterned dystrophy of the retinal pigment epithelium

Criteria Provided
Multiple Submitters
No Conflicts

CA364135582

rs_1800115811

3 SubmittersRCV001211284 RCV001530362 RCV001250309

NM_000322.5(PRPH2):c.634A>C (p.Ser212Arg)

SNV
Germline

Chr6:42704559

Pathogenic

PRPH2-related disorder
Retinal dystrophy

Criteria Provided
Single Submitter

CA3808564

rs_61755800

2 SubmittersRCV001212981 RCV004813890

NM_000322.5(PRPH2):c.389T>C (p.Leu130Pro)

SNV
Germline

Chr6:42721946

Pathogenic/Likely pathogenic

PRPH2-related disorder
Retinitis pigmentosa
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA364137665

rs_1761911206

4 SubmittersRCV001212513 RCV001250303 RCV001530282

NM_000322.5(PRPH2):c.1A>G (p.Met1Val)

SNV
Germline

Chr6:42722334

Conflicting classifications of pathogenicity

PRPH2-related disorder
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA364138987

rs_1761921867

2 SubmittersRCV001202664 RCV003890347

NM_000322.5(PRPH2):c.582-1G>A

SNV
Germline

Chr6:42704612

Pathogenic/Likely pathogenic

PRPH2-related disorder
Condition: not provided
Stargardt disease
Retinal dystrophy
Choroideremia

Criteria Provided
Multiple Submitters
No Conflicts

CA364135897

rs_1800118693

5 SubmittersRCV001212443 RCV001530353 RCV001250354 RCV004813889 RCV005419038

NM_000322.5(PRPH2):c.1015G>A (p.Ala339Thr)

SNV
Germline

Chr6:42698321

Conflicting classifications of pathogenicity

Retinal dystrophy
PRPH2-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3808458

rs_760687443

4 SubmittersRCV003887925 RCV001228253 RCV001530265

NM_000322.5(PRPH2):c.605G>A (p.Gly202Glu)

SNV
Germline

Chr6:42704588

Pathogenic/Likely pathogenic

PRPH2-related disorder
Patterned macular dystrophy 1

Criteria Provided
Multiple Submitters
No Conflicts

CA364135755

rs_1800117660

2 SubmittersRCV001247898 RCV001353008

NM_000322.5(PRPH2):c.450T>A (p.Cys150Ter)

SNV
Germline

Chr6:42721885

Pathogenic

PRPH2-related disorder

Criteria Provided
Single Submitter

CA364137534

rs_1761908800

1 SubmittersRCV001239630

NM_000322.5(PRPH2):c.828+1G>A

SNV
Germline

Chr6:42704364

Pathogenic

PRPH2-related disorder
Condition: not provided

Criteria Provided
Single Submitter

CA364134538

rs_1800108516

2 SubmittersRCV001234682 RCV001530259

NM_000322.5(PRPH2):c.761T>A (p.Leu254Gln)

SNV
Germline

Chr6:42704432

Pathogenic/Likely pathogenic

Patterned dystrophy of the retinal pigment epithelium
Retinitis pigmentosa
PRPH2-related disorder
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA364134917

rs_1800110989

3 SubmittersRCV001250340 RCV001250341 RCV001386135 RCV001530379

NM_000322.5(PRPH2):c.675T>A (p.Tyr225Ter)

SNV
Germline

Chr6:42704518

Likely pathogenic

Retinitis pigmentosa

Criteria Provided
Single Submitter

CA364135386

rs_1800114066

1 SubmittersRCV001250314

NM_000322.5(PRPH2):c.642C>A (p.Cys214Ter)

SNV
Germline

Chr6:42704551

Pathogenic/Likely pathogenic

Stargardt disease
PRPH2-related disorder
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA364135565

rs_1388865786

3 SubmittersRCV001250310 RCV001387192 RCV001530363

NM_000322.5(PRPH2):c.638G>C (p.Cys213Ser)

SNV
Germline

Chr6:42704555

Pathogenic

Stargardt disease
Condition: not provided
PRPH2-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA364135589

rs_61755803

3 SubmittersRCV001250307 RCV001530361 RCV002568706

NM_000322.5(PRPH2):c.631T>C (p.Phe211Leu)

SNV
Germline

Chr6:42704562

Pathogenic/Likely pathogenic

Retinitis pigmentosa
Condition: not provided
PRPH2-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA364135628

rs_1800116126

3 SubmittersRCV001250289 RCV001530317 RCV002570421

NM_000322.5(PRPH2):c.612C>A (p.Tyr204Ter)

SNV
Germline

Chr6:42704581

Pathogenic

Patterned dystrophy of the retinal pigment epithelium
Vitelliform macular dystrophy 2
Stargardt disease
PRPH2-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA364135723

rs_1554269081

2 SubmittersRCV001250281 RCV001250282 RCV001250373 RCV001879779

NM_000322.5(PRPH2):c.583C>T (p.Arg195Ter)

SNV
Germline

Chr6:42704610

Pathogenic/Likely pathogenic

Patterned dystrophy of the retinal pigment epithelium
Condition: not provided
PRPH2-related disorder
Patterned macular dystrophy 1
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA364135882

rs_1322278463

6 SubmittersRCV001250355 RCV001530355 RCV001381221 RCV002290662 RCV004814021

NM_000322.5(PRPH2):c.494G>T (p.Cys165Phe)

SNV
Germline

Chr6:42721841

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided
PRPH2-related disorder

Criteria Provided
Conflicting Classifications

CA364137430

rs_61755788

3 SubmittersRCV001250330 RCV001530224 RCV001379008

NM_000322.5(PRPH2):c.380A>G (p.Glu127Gly)

SNV
Germline

Chr6:42721955

Conflicting classifications of pathogenicity

Stargardt disease
Cone-rod dystrophy
PRPH2-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3808625

rs_543703718

3 SubmittersRCV001250302 RCV001250301 RCV001400129 RCV001530280

NM_000322.5(PRPH2):c.828+2T>C

SNV
Germline

Chr6:42704363

Pathogenic/Likely pathogenic

Stargardt disease
PRPH2-related disorder
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA364134529

rs_1800108496

3 SubmittersRCV001250343 RCV001301121 RCV001530260

NM_000322.5(PRPH2):c.515G>C (p.Arg172Pro)

SNV
Germline

Chr6:42721820

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA364137388

rs_61755793

2 SubmittersRCV001268764

NM_000322.5(PRPH2):c.668T>C (p.Ile223Thr)

SNV
Germline

Chr6:42704525

Likely pathogenic

Adult-onset foveomacular vitelliform dystrophy

No Assertion Criteria Provided

CA364135425

rs_1800114220

1 SubmittersRCV001280897

NM_000322.5(PRPH2):c.695C>A (p.Ala232Glu)

SNV
Germline

Chr6:42704498

Pathogenic

PRPH2-related disorder

Criteria Provided
Single Submitter

CA364135272

rs_1800113364

1 SubmittersRCV001303822

NM_000322.5(PRPH2):c.622G>T (p.Gly208Cys)

SNV
Germline

Chr6:42704571

Likely pathogenic

PRPH2-related disorder

Criteria Provided
Single Submitter

CA364135667

rs_901479607

1 SubmittersRCV001352567

NM_000322.5(PRPH2):c.512T>G (p.Phe171Cys)

SNV
Unknown

Chr6:42721823

Likely pathogenic

Retinitis pigmentosa 7

Criteria Provided
Single Submitter

CA364137391

rs_1761906682

1 SubmittersRCV001352981

NM_000322.5(PRPH2):c.850C>T (p.Arg284Cys)

SNV
Germline

Chr6:42698486

Conflicting classifications of pathogenicity

PRPH2-related disorder
Condition: not provided
Retinal disorder

Criteria Provided
Conflicting Classifications

CA3808498

rs_370994796

3 SubmittersRCV001371896 RCV001530263 RCV006443835

NM_000322.5(PRPH2):c.581+5G>A

SNV
Germline

Chr6:42721749

Conflicting classifications of pathogenicity

Patterned macular dystrophy 1
PRPH2-related disorder

Criteria Provided
Conflicting Classifications

CA2499218255

rs_2152010844

2 SubmittersRCV001726496 RCV006466791

NM_000322.5(PRPH2):c.628C>G (p.Pro210Ala)

SNV
Germline

Chr6:42704565

Pathogenic

PRPH2-related disorder

Criteria Provided
Single Submitter

CA3808566

rs_61755797

1 SubmittersRCV001379296

NM_000322.5(PRPH2):c.626T>A (p.Val209Asp)

SNV
Germline

Chr6:42704567

Pathogenic/Likely pathogenic

PRPH2-related disorder
Condition: not provided
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA364135644

rs_1220783333

3 SubmittersRCV001378538 RCV001530315 RCV004815505

NM_000322.5(PRPH2):c.625G>A (p.Val209Ile)

SNV
Germline

Chr6:42704568

Likely pathogenic

PRPH2-related disorder
Retinitis pigmentosa 7
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA3808567

rs_753657349

5 SubmittersRCV001378480 RCV002051942 RCV001530314

NM_000322.5(PRPH2):c.702C>A (p.Tyr234Ter)

SNV
Germline

Chr6:42704491

Pathogenic

PRPH2-related disorder

Criteria Provided
Single Submitter

CA364135236

rs_2152005280

1 SubmittersRCV001387033

NM_000322.5(PRPH2):c.692C>G (p.Ser231Ter)

SNV
Germline

Chr6:42704501

Pathogenic/Likely pathogenic

PRPH2-related disorder
Condition: not provided
Retinitis pigmentosa 7
Patterned macular dystrophy 1
Pigmentary retinal dystrophy
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA364135285

rs_1554269046

5 SubmittersRCV001389849 RCV001530322 RCV002468637 RCV002290706 RCV003388844 RCV004815528

NM_000322.5(PRPH2):c.647C>G (p.Pro216Arg)

SNV
Germline

Chr6:42704546

Pathogenic/Likely pathogenic

PRPH2-related disorder
Condition: not provided
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA364135534

rs_61755806

4 SubmittersRCV001386139 RCV001530368 RCV003888085

NM_000322.5(PRPH2):c.537G>A (p.Trp179Ter)

SNV
Germline

Chr6:42721798

Pathogenic

PRPH2-related disorder

Criteria Provided
Single Submitter

CA364137338

rs_779414078

1 SubmittersRCV001388653

NM_000322.5(PRPH2):c.522G>A (p.Trp174Ter)

SNV
Germline

Chr6:42721813

Pathogenic

PRPH2-related disorder
Condition: not provided

Criteria Provided
Single Submitter

CA364137373

rs_1064793237

2 SubmittersRCV001381222 RCV001530301

NM_000322.5(PRPH2):c.781C>T (p.Leu261Phe)

SNV
Germline

Chr6:42704412

Conflicting classifications of pathogenicity

PRPH2-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3808538

rs_150381599

3 SubmittersRCV001410446 RCV001530383

NM_000322.5(PRPH2):c.826G>T (p.Glu276Ter)

SNV
Germline

Chr6:42704367

Pathogenic

Condition: not provided
PRPH2-related disorder

Criteria Provided
Single Submitter

CA364134549

rs_751900290

2 SubmittersRCV001530258 RCV002568177

NM_000322.5(PRPH2):c.774C>G (p.Tyr258Ter)

SNV
Germline

Chr6:42704419

Pathogenic

Condition: not provided
PRPH2-related disorder

Criteria Provided
Single Submitter

CA364134845

rs_121918564

2 SubmittersRCV001530381 RCV002568181

NM_000322.5(PRPH2):c.749G>A (p.Cys250Tyr)

SNV
Germline

Chr6:42704444

Pathogenic

Condition: not provided
Patterned macular dystrophy 1
Retinal dystrophy

Criteria Provided
Single Submitter

CA364134980

rs_1458793437

3 SubmittersRCV001530375 RCV002223311 RCV004815559

NM_000322.5(PRPH2):c.748T>G (p.Cys250Gly)

SNV
Germline

Chr6:42704445

Pathogenic

Condition: not provided
Retinal dystrophy

Criteria Provided
Single Submitter

CA364134982

rs_1064793931

2 SubmittersRCV001530372 RCV003888301

NM_000322.5(PRPH2):c.748T>C (p.Cys250Arg)

SNV
Germline

Chr6:42704445

Likely pathogenic

Condition: not provided
Retinal dystrophy

Criteria Provided
Single Submitter

CA364134985

rs_1064793931

2 SubmittersRCV001530373 RCV004815558

NM_000322.5(PRPH2):c.745G>A (p.Gly249Ser)

SNV
Germline

Chr6:42704448

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa 7
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA364134999

rs_2152005248

3 SubmittersRCV001530329 RCV001810072 RCV004815556

NM_000322.5(PRPH2):c.738G>C (p.Trp246Cys)

SNV
Germline

Chr6:42704455

Pathogenic/Likely pathogenic

Condition: not provided
PRPH2-related disorder
Retinitis pigmentosa 7

Criteria Provided
Multiple Submitters
No Conflicts

CA364135031

rs_1800111659

3 SubmittersRCV001530327 RCV003591877 RCV005235586

NM_000322.5(PRPH2):c.668T>A (p.Ile223Asn)

SNV
Germline

Chr6:42704525

Likely pathogenic

Condition: not provided

No Assertion Criteria Provided

CA364135427

rs_1800114220

1 SubmittersRCV001530250

NM_000322.5(PRPH2):c.662C>T (p.Pro221Leu)

SNV
Germline

Chr6:42704531

Pathogenic/Likely pathogenic

Condition: not provided
PRPH2-related disorder
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA364135458

rs_973931180

3 SubmittersRCV001530246 RCV001873752 RCV004815551

NM_000322.5(PRPH2):c.643A>T (p.Asn215Tyr)

SNV
Germline

Chr6:42704550

Pathogenic

Condition: not provided
PRPH2-related disorder

Criteria Provided
Single Submitter

CA364135557

rs_2152005339

2 SubmittersRCV001530364 RCV001873760

NM_000322.5(PRPH2):c.643A>C (p.Asn215His)

SNV
Germline

Chr6:42704550

Pathogenic

Condition: not provided
PRPH2-related disorder

Criteria Provided
Single Submitter

CA364135561

rs_2152005339

2 SubmittersRCV001530365 RCV001873761

NM_000322.5(PRPH2):c.638G>T (p.Cys213Phe)

SNV
Germline

Chr6:42704555

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA364135586

rs_61755803

2 SubmittersRCV001530320

NM_000322.5(PRPH2):c.633C>G (p.Phe211Leu)

SNV
Germline

Chr6:42704560

Pathogenic/Likely pathogenic

Condition: not provided
PRPH2-related disorder
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA364135617

rs_61755799

4 SubmittersRCV001530319 RCV001882585 RCV003888299

NM_000322.5(PRPH2):c.599T>G (p.Val200Gly)

SNV
Germline

Chr6:42704594

Pathogenic

Condition: not provided

No Assertion Criteria Provided

CA364135784

rs_62645932

1 SubmittersRCV001530233

NM_000322.5(PRPH2):c.595A>G (p.Asn199Asp)

SNV
Germline

Chr6:42704598

Likely pathogenic

Condition: not provided
PRPH2-related disorder

Criteria Provided
Single Submitter

CA364135815

rs_757988141

2 SubmittersRCV001530231 RCV003591876

NM_000322.5(PRPH2):c.592A>C (p.Ser198Arg)

SNV
Germline

Chr6:42704601

Pathogenic

Condition: not provided

No Assertion Criteria Provided

CA364135837

rs_2152005405

1 SubmittersRCV001530360

NM_000322.5(PRPH2):c.583C>G (p.Arg195Gly)

SNV
Germline

Chr6:42704610

Conflicting classifications of pathogenicity

Condition: not provided
PRPH2-related disorder
Retinal disorder

Criteria Provided
Conflicting Classifications

CA364135884

rs_1322278463

3 SubmittersRCV001530356 RCV003591878 RCV006637031

NM_000322.5(PRPH2):c.582-2A>T

SNV
Germline

Chr6:42704613

Pathogenic

Condition: not provided
Retinal dystrophy

Criteria Provided
Single Submitter

CA364135899

rs_2152005417

2 SubmittersRCV001530352 RCV004815557

NM_000322.5(PRPH2):c.581+1G>C

SNV
Germline

Chr6:42721753

Pathogenic

Condition: not provided
PRPH2-related disorder

Criteria Provided
Single Submitter

CA364137087

rs_1761904690

2 SubmittersRCV001530309 RCV002568886

NM_000322.5(PRPH2):c.571G>T (p.Glu191Ter)

SNV
Germline

Chr6:42721764

Pathogenic

Condition: not provided
PRPH2-related disorder
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA364137155

rs_2152010848

3 SubmittersRCV001530308 RCV001873755 RCV004815555

NM_000322.5(PRPH2):c.556G>A (p.Asp186Asn)

SNV
Germline

Chr6:42721779

Pathogenic/Likely pathogenic

Condition: not provided
PRPH2-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA364137245

rs_2152010859

3 SubmittersRCV001530306 RCV001882584

NM_000322.5(PRPH2):c.536G>T (p.Trp179Leu)

SNV
Germline

Chr6:42721799

Likely pathogenic

Condition: not provided

No Assertion Criteria Provided

CA364137340

rs_2152010886

1 SubmittersRCV001530302

NM_000322.5(PRPH2):c.520T>A (p.Trp174Arg)

SNV
Germline

Chr6:42721815

Pathogenic

Condition: not provided
PRPH2-related disorder

Criteria Provided
Single Submitter

CA364137379

rs_1395223954

2 SubmittersRCV001530228 RCV005094727

NM_000322.5(PRPH2):c.516G>T (p.Arg172=)

SNV
Germline

Chr6:42721819

Pathogenic

Condition: not provided

No Assertion Criteria Provided

CA450362459

rs_2152010899

1 SubmittersRCV001530226

NM_000322.5(PRPH2):c.493T>C (p.Cys165Arg)

SNV
Germline

Chr6:42721842

Pathogenic

Condition: not provided
PRPH2-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA364137433

rs_2152010916

3 SubmittersRCV001530347 RCV001873759

NM_000322.5(PRPH2):c.457A>G (p.Lys153Glu)

SNV
Germline

Chr6:42721878

Conflicting classifications of pathogenicity

Condition: not provided
PRPH2-related disorder

Criteria Provided
Conflicting Classifications

CA16609676

rs_2152010930

3 SubmittersRCV001530340 RCV001873758

NM_000322.5(PRPH2):c.423C>A (p.Tyr141Ter)

SNV
Germline

Chr6:42721912

Pathogenic

Condition: not provided
PRPH2-related disorder
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA364137590

rs_2152010946

3 SubmittersRCV001530289 RCV001873753 RCV004815554

NM_000322.5(PRPH2):c.377T>G (p.Leu126Arg)

SNV
Germline

Chr6:42721958

Likely pathogenic

Condition: not provided

No Assertion Criteria Provided

CA364137690

rs_2152010976

1 SubmittersRCV001530278

NM_000322.5(PRPH2):c.377T>C (p.Leu126Pro)

SNV
Germline

Chr6:42721958

Pathogenic

Condition: not provided
PRPH2-related disorder

Criteria Provided
Single Submitter

CA364137692

rs_2152010976

2 SubmittersRCV001530279 RCV001882581

NM_000322.5(PRPH2):c.281G>A (p.Trp94Ter)

SNV
Germline

Chr6:42722054

Pathogenic

Condition: not provided
Retinal dystrophy

Criteria Provided
Single Submitter

CA364138041

rs_2152011008

2 SubmittersRCV001530219 RCV004815550

NM_000322.5(PRPH2):c.202G>C (p.Gly68Arg)

SNV
Germline

Chr6:42722133

Likely pathogenic

Condition: not provided

No Assertion Criteria Provided

CA364138392

rs_61755774

1 SubmittersRCV001530297

NM_000322.5(PRPH2):c.122T>C (p.Leu41Pro)

SNV
Germline

Chr6:42722213

Likely pathogenic

Condition: not provided
PRPH2-related disorder

Criteria Provided
Single Submitter

CA364138725

rs_2152011091

2 SubmittersRCV001530292 RCV001882583

NM_000322.5(PRPH2):c.112G>T (p.Gly38Ter)

SNV
Germline

Chr6:42722223

Likely pathogenic

Condition: not provided

No Assertion Criteria Provided

CA364138745

rs_1761918414

1 SubmittersRCV001530290

NM_000322.5(PRPH2):c.63G>A (p.Trp21Ter)

SNV
Germline

Chr6:42722272

Pathogenic

Condition: not provided

No Assertion Criteria Provided

CA364138852

rs_2152011132

1 SubmittersRCV001530273

NM_000322.5(PRPH2):c.38G>A (p.Arg13Gln)

SNV
Germline

Chr6:42722297

Likely pathogenic

Condition: not provided

No Assertion Criteria Provided

CA3808676

rs_745427463

1 SubmittersRCV001530270

NM_000322.5(PRPH2):c.4G>T (p.Ala2Ser)

SNV
Germline

Chr6:42722331

Likely pathogenic

Condition: not provided

No Assertion Criteria Provided

CA364138978

rs_1424831291

1 SubmittersRCV001530269

NM_000322.5(PRPH2):c.1A>T (p.Met1Leu)

SNV
Germline

Chr6:42722334

Pathogenic

Condition: not provided
PRPH2-related disorder

Criteria Provided
Single Submitter

CA364138986

rs_1761921867

2 SubmittersRCV001530268 RCV002568885

NM_000322.5(PRPH2):c.695C>T (p.Ala232Val)

SNV
Germline

Chr6:42704498

Conflicting classifications of pathogenicity

Condition: not provided
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA364135276

rs_1800113364

2 SubmittersRCV001547136 RCV003324565

NM_000322.5(PRPH2):c.389T>G (p.Leu130Arg)

SNV
Germline

Chr6:42721946

Likely pathogenic

PRPH2-related disorder

Criteria Provided
Single Submitter

CA364137664

rs_1761911206

1 SubmittersRCV002050336

NM_000322.5(PRPH2):c.62G>A (p.Trp21Ter)

SNV
Germline

Chr6:42722273

Pathogenic

PRPH2-related disorder
Retinal dystrophy

Criteria Provided
Single Submitter

CA364138855

rs_2152011135

2 SubmittersRCV001999832 RCV004816818

NM_000322.5(PRPH2):c.721G>T (p.Glu241Ter)

SNV
Germline

Chr6:42704472

Pathogenic

PRPH2-related disorder

Criteria Provided
Single Submitter

CA364135127

rs_2152005272

1 SubmittersRCV001961954

NM_000322.5(PRPH2):c.828+1G>T

SNV
Germline

Chr6:42704364

Pathogenic

PRPH2-related disorder

Criteria Provided
Single Submitter

CA364134534

rs_1800108516

1 SubmittersRCV001927187

NM_000322.5(PRPH2):c.599T>C (p.Val200Ala)

SNV
Germline

Chr6:42704594

Likely pathogenic

PRPH2-related disorder

Criteria Provided
Single Submitter

CA364135789

rs_62645932

1 SubmittersRCV002011195

NM_000322.5(PRPH2):c.640T>C (p.Cys214Arg)

SNV
Germline

Chr6:42704553

Likely pathogenic

PRPH2-related disorder

Criteria Provided
Single Submitter

CA364135578

rs_2152005343

1 SubmittersRCV002041544

NM_000322.5(PRPH2):c.469G>C (p.Asp157His)

SNV
Germline

Chr6:42721866

Likely pathogenic

PRPH2-related disorder

Criteria Provided
Single Submitter

CA364137491

rs_61755787

1 SubmittersRCV002020616

NM_000322.5(PRPH2):c.419A>G (p.Tyr140Cys)

SNV
Germline

Chr6:42721916

Likely pathogenic

PRPH2-related disorder
Retinal dystrophy

Criteria Provided
Single Submitter

CA364137598

rs_1761910060

2 SubmittersRCV001894157 RCV004815671

NM_000322.5(PRPH2):c.749G>C (p.Cys250Ser)

SNV
Germline

Chr6:42704444

Likely pathogenic

PRPH2-related disorder

Criteria Provided
Single Submitter

CA364134978

rs_1458793437

1 SubmittersRCV002025314

NM_000322.5(PRPH2):c.750C>A (p.Cys250Ter)

SNV
Germline

Chr6:42704443

Pathogenic

PRPH2-related disorder

Criteria Provided
Single Submitter

CA364134971

rs_2152005243

1 SubmittersRCV001956505

NM_000322.5(PRPH2):c.557A>G (p.Asp186Gly)

SNV
Germline

Chr6:42721778

Likely pathogenic

PRPH2-related disorder

Criteria Provided
Single Submitter

CA364137234

rs_2152010856

1 SubmittersRCV001983906

NM_000322.5(PRPH2):c.910C>T (p.Gln304Ter)

SNV
Germline

Chr6:42698426

Likely pathogenic

PRPH2-related disorder

Criteria Provided
Single Submitter

CA364133175

rs_390659

1 SubmittersRCV002030781

NM_000322.5(PRPH2):c.535T>G (p.Trp179Gly)

SNV
Germline

Chr6:42721800

Likely pathogenic

Pigmentary retinal dystrophy
Retinitis pigmentosa 7
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA364137343

rs_61755796

3 SubmittersRCV002249143 RCV003152791 RCV004816984

NM_000322.5(PRPH2):c.2T>G (p.Met1Arg)

SNV
Germline

Chr6:42722333

Pathogenic

Pigmentary retinal dystrophy

Criteria Provided
Single Submitter

CA364138984

rs_121918565

1 SubmittersRCV002250267

NM_000322.5(PRPH2):c.655C>T (p.Pro219Ser)

SNV
Germline

Chr6:42704538

Conflicting classifications of pathogenicity

PRPH2-related disorder
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA364135489

rs_749603273

2 SubmittersRCV002569611 RCV003889115

NM_000322.5(PRPH2):c.604G>T (p.Gly202Trp)

SNV
Germline

Chr6:42704589

Likely pathogenic

PRPH2-related disorder

Criteria Provided
Single Submitter

CA364135758

rs_752610846

1 SubmittersRCV002671370

NM_000322.5(PRPH2):c.666C>A (p.Cys222Ter)

SNV
Germline

Chr6:42704527

Pathogenic

PRPH2-related disorder

Criteria Provided
Single Submitter

CA364135437

rs_2548300782

1 SubmittersRCV002839533

NM_000322.5(PRPH2):c.479A>C (p.Gln160Pro)

SNV
Germline

Chr6:42721856

Likely pathogenic

PRPH2-related disorder

Criteria Provided
Single Submitter

CA364137467

rs_2548309643

1 SubmittersRCV002866464

NM_000322.5(PRPH2):c.249C>A (p.Tyr83Ter)

SNV
Germline

Chr6:42722086

Pathogenic

PRPH2-related disorder

Criteria Provided
Single Submitter

CA364138134

rs_61755775

1 SubmittersRCV002857924

NM_000322.5(PRPH2):c.658C>G (p.Arg220Gly)

SNV
Germline

Chr6:42704535

Conflicting classifications of pathogenicity

PRPH2-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA364135477

rs_61755809

2 SubmittersRCV002918660 RCV006251165

NM_000322.5(PRPH2):c.470A>G (p.Asp157Gly)

SNV
Germline

Chr6:42721865

Likely pathogenic

PRPH2-related disorder

Criteria Provided
Single Submitter

CA364137488

rs_2548309652

1 SubmittersRCV002966658

NM_000322.5(PRPH2):c.500G>T (p.Gly167Val)

SNV
Germline

Chr6:42721835

Likely pathogenic

PRPH2-related disorder

Criteria Provided
Single Submitter

CA364137417

rs_61755789

1 SubmittersRCV003047754

NM_000322.5(PRPH2):c.303C>A (p.Tyr101Ter)

SNV
Germline

Chr6:42722032

Pathogenic

PRPH2-related disorder

Criteria Provided
Single Submitter

CA364137922

rs_61755776

1 SubmittersRCV003044415

NM_000322.5(PRPH2):c.655C>G (p.Pro219Ala)

SNV
Germline

Chr6:42704538

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA364135491

rs_749603273

1 SubmittersRCV003329956

NM_000322.5(PRPH2):c.530T>G (p.Ile177Ser)

SNV
Unknown

Chr6:42721805

Likely pathogenic

Vitelliform macular dystrophy 3

Criteria Provided
Single Submitter

CA364137352

rs_748478593

1 SubmittersRCV003389572

NM_000322.5(PRPH2):c.917G>A (p.Trp306Ter)

SNV
Unknown

Chr6:42698419

Likely pathogenic

Patterned dystrophy of the retinal pigment epithelium

Criteria Provided
Single Submitter

CA364133140

rs_2548298343

1 SubmittersRCV003389577

NM_000322.5(PRPH2):c.637T>G (p.Cys213Gly)

SNV
Germline

Chr6:42704556

Likely pathogenic

PRPH2-related disorder

Criteria Provided
Single Submitter

CA364135593

rs_61755802

1 SubmittersRCV003592421

NM_000322.5(PRPH2):c.662C>G (p.Pro221Arg)

SNV
Germline

Chr6:42704531

Likely pathogenic

PRPH2-related disorder

Criteria Provided
Single Submitter

CA364135460

rs_973931180

1 SubmittersRCV003592507

NM_000322.5(PRPH2):c.238A>T (p.Lys80Ter)

SNV
Germline

Chr6:42722097

Pathogenic

PRPH2-related disorder

Criteria Provided
Single Submitter

CA364138199

rs_2548309835

1 SubmittersRCV003592593

NM_000322.5(PRPH2):c.635G>A (p.Ser212Asn)

SNV
Germline

Chr6:42704558

Likely pathogenic

PRPH2-related disorder
Retinal dystrophy

Criteria Provided
Single Submitter

CA364135608

rs_61755801

2 SubmittersRCV003593007 RCV004818369

NM_000322.5(PRPH2):c.423C>G (p.Tyr141Ter)

SNV
Germline

Chr6:42721912

Pathogenic

PRPH2-related disorder

Criteria Provided
Single Submitter

CA364137589

rs_2152010946

1 SubmittersRCV003591426

NM_000322.5(PRPH2):c.421T>G (p.Tyr141Asp)

SNV
Germline

Chr6:42721914

Likely pathogenic

PRPH2-related disorder

Criteria Provided
Single Submitter

CA364137593

rs_61755780

1 SubmittersRCV003591367

NM_000322.5(PRPH2):c.582-2A>G

SNV
Germline

Chr6:42704613

Pathogenic

PRPH2-related disorder

Criteria Provided
Single Submitter

CA364135902

rs_2152005417

1 SubmittersRCV003592161

NM_000322.5(PRPH2):c.661C>G (p.Pro221Ala)

SNV
Germline

Chr6:42704532

Likely pathogenic

PRPH2-related disorder

Criteria Provided
Single Submitter

CA364135465

rs_777534414

1 SubmittersRCV003757478

NM_000322.5(PRPH2):c.74G>A (p.Trp25Ter)

SNV
Germline

Chr6:42722261

Pathogenic

PRPH2-related disorder

Criteria Provided
Single Submitter

CA364138824

rs_535111150

1 SubmittersRCV003757500

NM_000322.5(PRPH2):c.694G>A (p.Ala232Thr)

SNV
Germline

Chr6:42704499

Likely pathogenic

PRPH2-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA364135281

rs_2548300768

2 SubmittersRCV003757687

NM_000322.5(PRPH2):c.484G>T (p.Glu162Ter)

SNV
Germline

Chr6:42721851

Pathogenic

PRPH2-related disorder

Criteria Provided
Single Submitter

CA364137456

rs_769939935

1 SubmittersRCV003757732

NM_000322.5(PRPH2):c.637T>A (p.Cys213Ser)

SNV
Germline

Chr6:42704556

Pathogenic

PRPH2-related disorder

Criteria Provided
Single Submitter

CA364135597

rs_61755802

1 SubmittersRCV003757680

NM_000322.5(PRPH2):c.708C>A (p.Tyr236Ter)

SNV
Germline

Chr6:42704485

Pathogenic

PRPH2-related disorder

Criteria Provided
Single Submitter

CA364135200

rs_61755813

1 SubmittersRCV003757811

NM_000322.5(PRPH2):c.273T>G (p.Tyr91Ter)

SNV
Germline

Chr6:42722062

Pathogenic

Choroidal dystrophy, central areolar 2

Criteria Provided
Single Submitter

CA364138057

rs_1761914145

1 SubmittersRCV003883233

NM_000322.5(PRPH2):c.828G>T (p.Glu276Asp)

SNV
Germline

Chr6:42704365

Likely pathogenic

Retinal dystrophy

Criteria Provided
Single Submitter

CA364134541

rs_1800108549

1 SubmittersRCV003891000

NM_000322.5(PRPH2):c.644A>C (p.Asn215Thr)

SNV
Germline

Chr6:42704549

Likely pathogenic

Retinal dystrophy

Criteria Provided
Single Submitter

CA364135554

rs_2548300805

1 SubmittersRCV003891003

NM_000322.5(PRPH2):c.409G>C (p.Gly137Arg)

SNV
Germline

Chr6:42721926

Pathogenic

Retinal dystrophy

Criteria Provided
Single Submitter

CA364137622

rs_781256236

1 SubmittersRCV003891006

NM_000322.5(PRPH2):c.457A>C (p.Lys153Gln)

SNV
Germline

Chr6:42721878

Likely pathogenic

Retinal dystrophy

No Assertion Criteria Provided

1 SubmittersRCV004814355

NM_000322.5(PRPH2):c.851G>A (p.Arg284His)

SNV
Germline

Chr6:42698485

Likely pathogenic

Retinal dystrophy

No Assertion Criteria Provided

1 SubmittersRCV004817239

NM_000322.5(PRPH2):c.442G>T (p.Gly148Cys)

SNV
Germline

Chr6:42721893

Likely pathogenic

Retinal dystrophy

No Assertion Criteria Provided

1 SubmittersRCV004817357

NM_000322.5(PRPH2):c.721G>C (p.Glu241Gln)

SNV
Germline

Chr6:42704472

Likely pathogenic

Retinal dystrophy

No Assertion Criteria Provided

1 SubmittersRCV004817389

NM_000322.5(PRPH2):c.898G>T (p.Glu300Ter)

SNV
Germline

Chr6:42698438

Pathogenic

Retinal dystrophy

No Assertion Criteria Provided

1 SubmittersRCV004817710

NM_000322.5(PRPH2):c.469G>T (p.Asp157Tyr)

SNV
Germline

Chr6:42721866

Likely pathogenic

Retinal dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV004818735

NM_000322.5(PRPH2):c.859C>T (p.Gln287Ter)

SNV
Germline

Chr6:42698477

Pathogenic

Choroidal dystrophy, central areolar 2

Criteria Provided
Single Submitter

1 SubmittersRCV004821163

NM_000322.5(PRPH2):c.738G>T (p.Trp246Cys)

SNV
Germline

Chr6:42704455

Pathogenic

PRPH2-related disorder

Criteria Provided
Single Submitter

1 SubmittersRCV005111885

NM_000322.5(PRPH2):c.640T>G (p.Cys214Gly)

SNV
Germline

Chr6:42704553

Likely pathogenic

PRPH2-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005111886

NM_000322.5(PRPH2):c.476T>C (p.Leu159Pro)

SNV
Germline

Chr6:42721859

Conflicting classifications of pathogenicity

PRPH2-related disorder
Vitelliform macular dystrophy 3

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005111887 RCV005629699

NM_000322.5(PRPH2):c.532C>T (p.Gln178Ter)

SNV
Germline

Chr6:42721803

Pathogenic

PRPH2-related disorder

Criteria Provided
Single Submitter

1 SubmittersRCV005120531

NM_000322.5(PRPH2):c.3G>A (p.Met1Ile)

SNV
Germline

Chr6:42722332

Pathogenic

PRPH2-related disorder

Criteria Provided
Single Submitter

1 SubmittersRCV005127330

NM_000322.5(PRPH2):c.670C>T (p.Gln224Ter)

SNV
Germline

Chr6:42704523

Pathogenic

PRPH2-related disorder

Criteria Provided
Single Submitter

1 SubmittersRCV005133600

NM_000322.5(PRPH2):c.422A>C (p.Tyr141Ser)

SNV
Germline

Chr6:42721913

Likely pathogenic

Patterned macular dystrophy 1

Criteria Provided
Single Submitter

1 SubmittersRCV005235864

NM_000322.5(PRPH2):c.356G>A (p.Cys119Tyr)

SNV
Germline

Chr6:42721979

Likely pathogenic

PRPH2-associated retinal disease

Criteria Provided
Single Submitter

1 SubmittersRCV005430088

NM_000322.5(PRPH2):c.594C>A (p.Ser198Arg)

SNV
Germline

Chr6:42704599

Likely pathogenic

Retinitis pigmentosa 7

Criteria Provided
Single Submitter

1 SubmittersRCV005884562

NM_000322.5(PRPH2):c.457A>T (p.Lys153Ter)

SNV
Germline

Chr6:42721878

Pathogenic

PRPH2-related disorder

Criteria Provided
Single Submitter

1 SubmittersRCV006506752

NM_000322.5(PRPH2):c.291G>A (p.Trp97Ter)

SNV
Germline

Chr6:42722044

Pathogenic

PRPH2-related disorder

Criteria Provided
Single Submitter

1 SubmittersRCV006587624

NM_000322.5(PRPH2):c.629C>A (p.Pro210His)

SNV
Germline

Chr6:42704564

Likely pathogenic

PRPH2-related disorder

Criteria Provided
Single Submitter

1 SubmittersRCV006622373

NM_000322.5(PRPH2):c.520T>G (p.Trp174Gly)

SNV
Germline

Chr6:42721815

Likely pathogenic

PRPH2-related disorder

Criteria Provided
Single Submitter

1 SubmittersRCV006622375

NM_000322.5(PRPH2):c.495C>G (p.Cys165Trp)

SNV
Germline

Chr6:42721840

Likely pathogenic

PRPH2-related disorder

Criteria Provided
Single Submitter

1 SubmittersRCV006622376

NM_000322.5(PRPH2):c.277A>T (p.Arg93Ter)

SNV
Germline

Chr6:42722058

Pathogenic

PRPH2-related disorder

Criteria Provided
Single Submitter

1 SubmittersRCV006689972