Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	5961
Gene name	Peripherin 2
Gene symbol	PRPH2
Synonyms (NCBI Gene)	AOFMDAVMDCACD2DSMDBS1PRPHRDSRP7TSPAN22rd2
Chromosome	6
Chromosome location	6p21.1
Summary	The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate

Show/Hide all (67)

SNP ID	Visualize variation	Clinical significance	Consequence
rs61748429	CA>-	Pathogenic, not-provided	Non coding transcript variant, coding sequence variant, frameshift variant
rs61755769	C>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs61755771	G>A	Pathogenic, not-provided, likely-pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs61755776	G>A,C	Not-provided, pathogenic	Stop gained, non coding transcript variant, coding sequence variant, synonymous variant
rs61755777	CAG>-	Pathogenic, not-provided	Non coding transcript variant, coding sequence variant, inframe deletion
rs61755781	T>C	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs61755783	G>A	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs61755784	A>-	Not-provided, pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs61755786	TTC>-	Pathogenic, not-provided	Non coding transcript variant, coding sequence variant, inframe deletion
rs61755787	C>T	Not-provided, likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs61755789	C>T	Pathogenic, not-provided	Non coding transcript variant, coding sequence variant, missense variant
rs61755792	G>A,C	Pathogenic, not-provided, likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs61755793	C>T	Pathogenic, not-provided	Non coding transcript variant, coding sequence variant, missense variant
rs61755794	T>A,G	Pathogenic, not-provided, likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs61755797	G>A,C	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs61755798	G>A,C	Not-provided, likely-pathogenic, pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs61755800	T>C,G	Not-provided, likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs61755801	C>G	Not-provided, likely-pathogenic, pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs61755802	A>G	Not-provided, pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs61755806	G>A	Pathogenic, likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs61755807	TGG>-	Pathogenic, not-provided	Non coding transcript variant, coding sequence variant, inframe deletion
rs61755810	C>T	Not-provided, likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs61755811	G>A,C	Not-provided, likely-pathogenic	Stop gained, non coding transcript variant, coding sequence variant, missense variant
rs61755814	G>A	Pathogenic, likely-pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs61755816	G>C,T	Not-provided, likely-pathogenic, pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs61755817	A>C,G	Not-provided, pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs121918563	A>G	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs121918564	G>T	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs121918565	A>G	Pathogenic, not-provided	Initiator codon variant, non coding transcript variant, missense variant
rs121918566	C>T	Pathogenic, not-provided	Non coding transcript variant, downstream transcript variant, genic downstream transcript variant, stop gained, coding sequence variant
rs121918567	C>A,T	Likely-pathogenic, pathogenic, not-provided	Missense variant, non coding transcript variant, coding sequence variant
rs139185976	C>T	Pathogenic-likely-pathogenic, pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs183714869	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, synonymous variant
rs281865373	T>A	Pathogenic	Intron variant
rs375978676	G>A,C	Likely-pathogenic	Missense variant, synonymous variant, non coding transcript variant, coding sequence variant
rs527236097	C>T	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs527236098	C>T	Pathogenic, likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs554945964	C>T	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs672601326	->AGTA	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs753657349	C>A,T	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs759011231	C>A	Likely-pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant, downstream transcript variant
rs786205579	C>T	Likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs1064793237	C>G	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1064793931	A>T	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1131691378	A>T	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1203908646	G>A,T	Pathogenic	Stop gained, coding sequence variant, missense variant, non coding transcript variant
rs1554268521	C>T	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, non coding transcript variant, downstream transcript variant, stop gained
rs1554268546	CGACGTCT>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1554269046	G>T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1554269053	A>G	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1554269071	G>C	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1554269081	G>C	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1554270806	->AG	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1554270834	GCTGGGTC>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1554270848	GCACAAAATGG>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1562434099	T>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1562434117	CA>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1582759782	C>T	Likely-pathogenic	Splice acceptor variant
rs1582759785	G>C	Pathogenic	Intron variant
rs1582764504	AAATGAGGAGC>-	Likely-pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1582764519	GAG>-	Pathogenic	Coding sequence variant, inframe deletion, non coding transcript variant
rs1582764528	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1582764600	A>C	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1582764697	C>T	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs1582764765	->T	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs1582780550	G>A	Likely-pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs1582780842	->G	Likely-pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant

Show/Hide all (67)

miRTarBase ID	miRNA	Experiments
MIRT1265925	hsa-miR-105	CLIP-seq
MIRT1265926	hsa-miR-122	CLIP-seq
MIRT1265927	hsa-miR-1264	CLIP-seq
MIRT1265928	hsa-miR-1293	CLIP-seq
MIRT1265929	hsa-miR-149	CLIP-seq
MIRT1265930	hsa-miR-1915	CLIP-seq
MIRT1265931	hsa-miR-24	CLIP-seq
MIRT1265932	hsa-miR-2467-3p	CLIP-seq
MIRT1265933	hsa-miR-2909	CLIP-seq
MIRT1265934	hsa-miR-296-5p	CLIP-seq
MIRT1265935	hsa-miR-3065-5p	CLIP-seq
MIRT1265936	hsa-miR-3126-3p	CLIP-seq
MIRT1265937	hsa-miR-3184	CLIP-seq
MIRT1265938	hsa-miR-3198	CLIP-seq
MIRT1265939	hsa-miR-3650	CLIP-seq
MIRT1265940	hsa-miR-3652	CLIP-seq
MIRT1265941	hsa-miR-3675-5p	CLIP-seq
MIRT1265942	hsa-miR-3907	CLIP-seq
MIRT1265943	hsa-miR-3918	CLIP-seq
MIRT1265944	hsa-miR-421	CLIP-seq
MIRT1265945	hsa-miR-423-5p	CLIP-seq
MIRT1265946	hsa-miR-4255	CLIP-seq
MIRT1265947	hsa-miR-4257	CLIP-seq
MIRT1265948	hsa-miR-4271	CLIP-seq
MIRT1265949	hsa-miR-4272	CLIP-seq
MIRT1265950	hsa-miR-4278	CLIP-seq
MIRT1265951	hsa-miR-4283	CLIP-seq
MIRT1265952	hsa-miR-4284	CLIP-seq
MIRT1265953	hsa-miR-4309	CLIP-seq
MIRT1265954	hsa-miR-4310	CLIP-seq
MIRT1265955	hsa-miR-432	CLIP-seq
MIRT1265956	hsa-miR-4426	CLIP-seq
MIRT1265957	hsa-miR-4430	CLIP-seq
MIRT1265958	hsa-miR-4483	CLIP-seq
MIRT1265959	hsa-miR-4489	CLIP-seq
MIRT1265960	hsa-miR-4505	CLIP-seq
MIRT1265961	hsa-miR-4647	CLIP-seq
MIRT1265962	hsa-miR-4651	CLIP-seq
MIRT1265963	hsa-miR-4662b	CLIP-seq
MIRT1265964	hsa-miR-4667-5p	CLIP-seq
MIRT1265965	hsa-miR-4675	CLIP-seq
MIRT1265966	hsa-miR-4679	CLIP-seq
MIRT1265967	hsa-miR-4684-5p	CLIP-seq
MIRT1265968	hsa-miR-4685-5p	CLIP-seq
MIRT1265969	hsa-miR-4700-5p	CLIP-seq
MIRT1265970	hsa-miR-4725-3p	CLIP-seq
MIRT1265971	hsa-miR-4728-5p	CLIP-seq
MIRT1265972	hsa-miR-4731-5p	CLIP-seq
MIRT1265973	hsa-miR-4741	CLIP-seq
MIRT1265974	hsa-miR-4768-5p	CLIP-seq
MIRT1265975	hsa-miR-578	CLIP-seq
MIRT1265976	hsa-miR-592	CLIP-seq
MIRT1265977	hsa-miR-597	CLIP-seq
MIRT1265978	hsa-miR-608	CLIP-seq
MIRT1265979	hsa-miR-625	CLIP-seq
MIRT1265980	hsa-miR-637	CLIP-seq
MIRT1265981	hsa-miR-892a	CLIP-seq
MIRT1265934	hsa-miR-296-5p	CLIP-seq
MIRT2304629	hsa-miR-1266	CLIP-seq
MIRT2304630	hsa-miR-3121-5p	CLIP-seq
MIRT2304631	hsa-miR-335	CLIP-seq
MIRT2304632	hsa-miR-3649	CLIP-seq
MIRT2304633	hsa-miR-3670	CLIP-seq
MIRT2304634	hsa-miR-4270	CLIP-seq
MIRT2304635	hsa-miR-4441	CLIP-seq
MIRT2304636	hsa-miR-4518	CLIP-seq
MIRT2304637	hsa-miR-451b	CLIP-seq

Show/Hide all (19)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001750	Component	Photoreceptor outer segment	IEA
GO:0001917	Component	Photoreceptor inner segment	IEA
GO:0005515	Function	Protein binding	IPI	32814053
GO:0005886	Component	Plasma membrane	IBA
GO:0007155	Process	Cell adhesion	IEA
GO:0007601	Process	Visual perception	IEA
GO:0007601	Process	Visual perception	TAS	1749427
GO:0009645	Process	Response to low light intensity stimulus	IEA
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	TAS	1749427
GO:0035845	Process	Photoreceptor cell outer segment organization	IEA
GO:0042803	Function	Protein homodimerization activity	IEA
GO:0042995	Component	Cell projection	IEA
GO:0050908	Process	Detection of light stimulus involved in visual perception	IEA
GO:0051260	Process	Protein homooligomerization	IEA
GO:0051291	Process	Protein heterooligomerization	IEA
GO:0051604	Process	Protein maturation	IBA
GO:0060041	Process	Retina development in camera-type eye	IEA
GO:0072659	Process	Protein localization to plasma membrane	IBA

MIM	HGNC	e!Ensembl
179605	9942	ENSG00000112619

P23942

Protein name

Peripherin-2 (Retinal degeneration slow protein) (Tetraspanin-22) (Tspan-22)

Protein function

Essential for retina photoreceptor outer segment disk morphogenesis, may also play a role with ROM1 in the maintenance of outer segment disk structure (By similarity). Required for the maintenance of retinal outer nuclear layer thickness (By sim

PDB

7ZW1

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00335	Tetraspanin	16 → 287	Tetraspanin family	Family

Tissue specificity

TISSUE SPECIFICITY: Retina (photoreceptor). In rim region of ROS (rod outer segment) disks.

Sequence

MALLKVKFDQKKRVKLAQGLWLMNWFSVLAGIIIFSLGLFLKIELRKRSDVMNNSESHFV
PNSLIGMGVLSCVFNSLAGKICYDALDPAKYARWKPWLKPYLAICVLFNIILFLVALCCF
LLRGSLENTLGQGLKNGMKYYRDTDTPGRCFMKKTIDMLQIEFKCCGNNGFRDWFEIQWI
SNRYLDFSSKEVKDRIKSNVDGRYLVDGVPFSCCNPSSPRPCIQYQITNNSAHYSYDHQT
EELNLWVRGCRAALLSYYSSLMNSMGVVTLLIWLFEVTITIGLRYLQTSLDGVSNPEESE
SESEGWLLEKSVPETWKAFLESVKKLGKGNQVEAEGAGAGQAPEAG

Sequence length

346

Interactions

View interactions

1753

Show/Hide Causal Diseases (31)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Abnormal retinal pigmentation	Likely pathogenic; Pathogenic	rs61755787	RCV000626661
Adult-onset foveomacular vitelliform dystrophy	Likely pathogenic; Pathogenic	rs61755801, rs61748430, rs1554269071, rs1562434117, rs1761915143, rs1800114220	RCV004799664 RCV001253500 RCV000505604 RCV000735660 RCV001253053 RCV001280897
Autosomal recessive bestrophinopathy	Likely pathogenic; Pathogenic	rs61755781	RCV001353037
Blurred vision	Likely pathogenic; Pathogenic	rs61755787	RCV000626661
Central areolar choroidal dystrophy	Pathogenic	rs1761914145	RCV001199520
Choroidal dystrophy, central areolar 2	Likely pathogenic; Pathogenic	rs61755781, rs61755814, rs2152003847, rs2152010877, rs61755793, rs61755792, rs61755771, rs121918567, rs61755783, rs1761914145, rs1562434099	RCV005031577 RCV004760371 RCV004819243 RCV001787315 RCV000014053 RCV000014056 RCV003987319 RCV000014070 RCV000014071 RCV003883233 RCV005633664
Choroideremia	Pathogenic; Likely pathogenic	rs281865373, rs1800118693	RCV001250345 RCV005419038
Cone dystrophy	Likely pathogenic; Pathogenic	rs61755783, rs1800113541	RCV000678606 RCV001199525
Cone-rod dystrophy	Likely pathogenic; Pathogenic	rs61755781, rs281865373, rs61755792, rs61755786, rs1131691378, rs121918567, rs1800111659	RCV001250317 RCV001250359 RCV001250350 RCV001250325 RCV001250277 RCV000761334 RCV001199526
Doyne honeycomb retinal dystrophy	Pathogenic	rs281865373	RCV001250358
Isolated macular dystrophy	Likely pathogenic; Pathogenic	rs1562434099	RCV001199521
Leber congenital amaurosis 18	Pathogenic; Likely pathogenic	rs61755802, rs121918563	RCV000149469 RCV000149464
Macular degeneration	Likely pathogenic; Pathogenic	rs61755787	RCV000626661
Macular dystrophy	Likely pathogenic; Pathogenic	rs61755810, rs61755814, rs61755793, rs753657349, rs1582764504, rs1582764528, rs1582780842	RCV004798773 RCV000787668 RCV000787664 RCV000505051 RCV000787669 RCV000787670 RCV000787660
maculopathy	Pathogenic; Likely pathogenic	rs61755784, rs61755792, rs61755783	RCV001003148 RCV001003147 RCV001003149
Multifocal pattern dystrophy simulating fundus flavimaculatus	Pathogenic	rs2152010923	RCV001823321
Patterned dystrophy of the retinal pigment epithelium	Likely pathogenic; Pathogenic	rs61755781, rs61755814, rs281865373, rs2548298343, rs61755806, rs121918563, rs61755793, rs61755792, rs61755798, rs61755771, rs61755783, rs121918567, rs986748364, rs369507460, rs61755810 View all (10 more)	RCV001250316 RCV001250336 RCV001250346 RCV003389577 RCV001250376 RCV001250378 RCV001250353 RCV001250349 RCV001250287 RCV001250291 RCV001250319 RCV001250356 RCV001250377 RCV001250315 RCV001250312 RCV001250361 RCV001250333 RCV001250371 RCV001250309 RCV001732083 RCV001250298 RCV001250340 RCV001250281 RCV001250279 RCV001250355
Patterned macular dystrophy 1	Likely pathogenic; Pathogenic	rs1800116472, rs61755781, rs61755801, rs61755802, rs61755803, rs281865373, rs2152010844, rs1554269046, rs2152003847, rs1458793437, rs121918563, rs61755789, rs61755792, rs61748429, rs672601326 View all (11 more)	RCV001353039 RCV000161145 RCV000987696 RCV000149468 RCV001542667 RCV001542666 RCV001726496 RCV002290706 RCV004819243 RCV002223311 RCV000149466 RCV000014055 RCV001352972 RCV000014057 RCV000014060 RCV000149467 RCV000987699 RCV001353001 RCV000987697 RCV005633664 RCV000987694 RCV000987695 RCV000987698 RCV001003138 RCV001353008 RCV002290662
Pigmentary retinal dystrophy	Likely pathogenic; Pathogenic	rs61755781, rs61755787, rs281865372, rs1554269046, rs2152003847, rs61755796, rs121918565, rs1800110234, rs759752477	RCV005031577 RCV001270171 RCV001198961 RCV003388844 RCV004819243 RCV002249143 RCV002250267 RCV001199161 RCV001198962
Pigmentary retinopathy	Likely pathogenic; Pathogenic	rs61755787	RCV000626661
Progressive cone dystrophy (without rod involvement)	Likely pathogenic; Pathogenic	rs61755783	RCV000787661
PRPH2-related disorder	Pathogenic; Likely pathogenic	rs1800115217, rs901479607, rs1800116472, rs2152003795, rs61755774, rs61755780, rs61755781, rs61755784, rs61755785, rs61755787, rs61755788, rs61755796, rs62645929, rs62645931, rs281865372 View all (171 more)	RCV001327395 RCV001352567 RCV002547575 RCV001361997 RCV001857415 RCV002513911 RCV001051727 RCV001854487 RCV001315051 RCV001378482 RCV001388978 RCV002514515 RCV001037210 RCV002514516 RCV001854489 RCV004724802 RCV001381220 RCV001381219 RCV001854490 RCV001854491 RCV001857416 RCV001854492 RCV001052017 RCV005089562 RCV001058357 RCV001346727 RCV001386136 RCV002514517 RCV001043298 RCV001047656 RCV001854493 RCV002513913 RCV001857418 RCV001854494 RCV001379296 RCV001378538 RCV001378480 RCV001381557 RCV001387033 RCV001389849 RCV001389899 RCV001386139 RCV001388653 RCV001381222 RCV001385782 RCV001389354 RCV001387389 RCV001387968 RCV001385914 RCV001387459 RCV001873756 RCV002568179 RCV002568177 RCV002568181 RCV003591877 RCV001873752 RCV001873751 RCV001873760 RCV001873761 RCV001882585 RCV002568178 RCV003591876 RCV002568886 RCV001873755 RCV001882584 RCV005094727 RCV001873750 RCV001873759 RCV001873753 RCV001882581 RCV001873754 RCV005094728 RCV002568885 RCV002050336 RCV001999832 RCV001961954 RCV001927187 RCV002011195 RCV001942617 RCV001896508 RCV001896547 RCV002042361 RCV001993172 RCV002041544 RCV002020616 RCV001894157 RCV002025314 RCV001953652 RCV001956505 RCV001882254 RCV001914151 RCV001983906 RCV002030781 RCV001388979 RCV001055454 RCV002671370 RCV002791225 RCV002815367 RCV002839455 RCV002839533 RCV002856295 RCV002870716 RCV002852641 RCV002857389 RCV002866464 RCV002857924 RCV002871473 RCV002893862 RCV002966658 RCV002997018 RCV003037772 RCV003029229 RCV003031821 RCV003035640 RCV003047754 RCV003043255 RCV003044415 RCV001063368 RCV001378481 RCV001054658 RCV001857348 RCV001049315 RCV005089247 RCV000322776 RCV002513033 RCV001851844 RCV001379857 RCV001039794 RCV005089248 RCV002513034 RCV001061048 RCV003592421 RCV003592480 RCV003592507 RCV003592593 RCV003592497 RCV003593007 RCV003591415 RCV003591426 RCV003591367 RCV003592161 RCV003757478 RCV003757572 RCV003757500 RCV003757555 RCV003757687 RCV003757732 RCV003757768 RCV003757680 RCV003757811 RCV002525801 RCV003591740 RCV002524400 RCV001857204 RCV003757183 RCV001867900 RCV001389850 RCV001047360 RCV002536891 RCV001869193 RCV001061370 RCV001039037 RCV002550603 RCV001379736 RCV002551709 RCV001202274 RCV005093037 RCV001062465 RCV001051591 RCV001067304 RCV001046921 RCV001067892 RCV001067713 RCV001066960 RCV001061684 RCV002554769 RCV005093397 RCV001862534 RCV003757215 RCV005093411 RCV001386137 RCV001213611 RCV001862510 RCV001862577 RCV001388980 RCV003757221 RCV001207226 RCV001211279 RCV001209907 RCV001206484 RCV001211284 RCV001212981 RCV001212513 RCV001206978 RCV001212443 RCV001229461 RCV001232081 RCV001247906 RCV001242064 RCV001247898 RCV001239630 RCV001243703 RCV001234682 RCV001386135 RCV001387192 RCV002568706 RCV002570421 RCV001879779 RCV003770294 RCV001381221 RCV001381387 RCV001301121 RCV001303822 RCV001301122
Retinal disorder	Likely pathogenic; Pathogenic	rs61755805, rs2152010923, rs61755792	RCV006253789 RCV006269485 RCV006272080
Retinal dystrophy	Pathogenic; Likely pathogenic	rs61755778, rs61755780, rs61755781, rs61755784, rs61755785, rs61755787, rs62645929, rs62645931, rs61755798, rs61755800, rs61755801, rs61755803, rs61755805, rs61755810, rs61755814 View all (69 more)	RCV004815029 RCV004815030 RCV001074856 RCV004815031 RCV004815032 RCV001074377 RCV001074811 RCV003888457 RCV003888458 RCV003888459 RCV001075498 RCV001074371 RCV004815033 RCV001075618 RCV004815035 RCV003888460 RCV004815036 RCV001074280 RCV001073686 RCV004815039 RCV004815040 RCV004815505 RCV004815528 RCV003888085 RCV004815552 RCV004815559 RCV003888301 RCV004815558 RCV004815551 RCV003888299 RCV003888298 RCV004815557 RCV004815555 RCV004815554 RCV004815550 RCV004815553 RCV004815634 RCV004816818 RCV004815671 RCV001074625 RCV001073378 RCV004816984 RCV001075781 RCV001075516 RCV001074392 RCV003887869 RCV004814900 RCV003887870 RCV001074849 RCV004814901 RCV001074733 RCV004814902 RCV001075450 RCV004814903 RCV001075677 RCV004818369 RCV003891000 RCV003891003 RCV003891006 RCV000504883 RCV000504674 RCV001074257 RCV004817971 RCV004817980 RCV004818011 RCV000787662 RCV004818062 RCV004818152 RCV001073873 RCV004813695 RCV001074972 RCV001075691 RCV001073279 RCV001074073 RCV001074425 RCV001075111 RCV001074871 RCV001073397 RCV001074814 RCV001075315 RCV001073235 RCV001075367 RCV001074888 RCV001073624 RCV001073237 RCV001074831 RCV004813890 RCV004813889 RCV004813925 RCV004814016 RCV004814021 RCV004814029 RCV004814053
Retinitis pigmentosa	Likely pathogenic; Pathogenic	rs61755781, rs61755785, rs61755787, rs61755796, rs61755800, rs61755805, rs61755810, rs61755816, rs61755817, rs281865373, rs527236097, rs527236098, rs61755806, rs121918563, rs61755793 View all (18 more)	RCV001723663 RCV003238719 RCV001250327 RCV001250370 RCV000504657 RCV000787871 RCV001003141 RCV001003139 RCV000132580 RCV001250357 RCV000132578 RCV000132579 RCV001003142 RCV001530305 RCV000787663 RCV001250348 RCV001250320 RCV001250297 RCV000505041 RCV001003140 RCV001003144 RCV000787667 RCV000787870 RCV000844928 RCV001003145 RCV001003146 RCV001199523 RCV001199522 RCV001250311 RCV001250303 RCV001250374 RCV001250341 RCV001250314 RCV001250289
Retinitis pigmentosa 7	Likely pathogenic; Pathogenic	rs1761906682, rs61755781, rs61755796, rs61755807, rs62645935, rs61748433, rs753657349, rs1554269046, rs2152003847, rs1800111659, rs527236097, rs61755777, rs61755806, rs61755793, rs61755792 View all (5 more)	RCV001352981 RCV005031577 RCV005252747 RCV000014049 RCV001705814 RCV002280811 RCV002051942 RCV002468637 RCV004819243 RCV005235586 RCV005252764 RCV003152791 RCV000014048 RCV000014050 RCV005234784 RCV002466402 RCV000014058 RCV000014064 RCV000014067 RCV000014069 RCV005633664 RCV002250712
Retinitis pigmentosa 7, digenic	Likely pathogenic; Pathogenic	rs121918563	RCV000014051
Retinitis punctata albescens, autosomal dominant	Pathogenic	rs61755765	RCV002280866
Stargardt disease	Likely pathogenic; Pathogenic	rs61755781, rs61755784, rs61755787, rs61755803, rs61755814, rs281865373, rs527236098, rs61755793, rs61755792, rs61755798, rs61755769, rs61755786, rs61755771, rs61755783, rs1064793931 View all (14 more)	RCV001250306 RCV001250322 RCV001250326 RCV001250308 RCV001250335 RCV001250344 RCV001250331 RCV001250367 RCV001250352 RCV001250286 RCV001250275 RCV001250324 RCV001250276 RCV001250318 RCV001250338 RCV001250294 RCV001250328 RCV001250304 RCV001250332 RCV001250334 RCV001250293 RCV001250354 RCV001250300 RCV001250299 RCV001250310 RCV001250307 RCV001250373 RCV001250278 RCV001250292 RCV001250343
Vitelliform macular dystrophy 2	Likely pathogenic; Pathogenic	rs61755797, rs61755801, rs281865373, rs61748430, rs61755792, rs61755798, rs1800118693, rs1799988458, rs1554269081	RCV000787666 RCV001250290 RCV001250347 RCV001199527 RCV001250351 RCV001250288 RCV001199529 RCV001250362 RCV001250282
Vitelliform macular dystrophy 3	Likely pathogenic; Pathogenic	rs61755781, rs61755817, rs61748430, rs2152003847, rs2152005182, rs2152010904, rs748478593, rs61755793, rs121918564, rs61755798, rs121918565, rs121918566, rs61755769, rs1562434099, rs1799986608	RCV002508140 RCV003114252 RCV006252436 RCV004819243 RCV001587462 RCV005411769 RCV003389572 RCV001799605 RCV002508118 RCV002508119 RCV002508120 RCV002508121 RCV002508122 RCV005633664 RCV001530385

Show/Hide Unknown Diseases (7)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Choroidal Dystrophy	Uncertain significance; Conflicting classifications of pathogenicity; Benign; Likely benign	rs886061408, rs55851577, rs886061401, rs767471467	RCV000309152 RCV000333939 RCV000361982 RCV000375050 RCV000271221
Cone-Rod Dystrophy, Dominant	Uncertain significance; Conflicting classifications of pathogenicity; Benign; Likely benign	rs886061408, rs55851577, rs886061401, rs767471467	RCV000269206 RCV000272880 RCV000304936 RCV000318101 RCV000326330
Optic atrophy	Conflicting classifications of pathogenicity	rs61755767	RCV004815042
Prostate cancer	Uncertain significance	rs193921105	RCV000148998
Retinitis Pigmentosa, Dominant	Uncertain significance; Conflicting classifications of pathogenicity; Benign; Likely benign	rs886061408, rs55851577, rs886061401, rs767471467	RCV000368394 RCV000301247 RCV000405659 RCV000340098 RCV000362139
Usher syndrome	Conflicting classifications of pathogenicity	rs542296728	RCV003389460
Vitelliform macular dystrophy	Uncertain significance; Conflicting classifications of pathogenicity; Benign; Likely benign	rs886061408, rs55851577, rs886061401, rs767471467	RCV000406336 RCV000279063 RCV000340054 RCV000282759 RCV000365732

Show/Hide Text Mining Associations (45)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Abnormalities Drug Induced	Associate	21071739
Amaurosis congenita of Leber type 1	Associate	33712029
Atrophy	Associate	34073554, 35861669
Best Vitelliform Macular Dystrophy Multifocal	Associate	17504850
Blindness	Associate	35861669
Bullous Dystrophy Hereditary Macular Type	Associate	32717343
Carcinoma Renal Cell	Associate	39298723
Choroidal Neovascularization	Associate	12882809, 32579694, 34073554, 34486473
Choroidal sclerosis	Associate	11801511, 14510799, 26842753, 30215852, 32660024, 8644804
Cone Dystrophy	Associate	35861669
Cone Rod Dystrophies	Associate	21071739, 25082885, 26842753, 29555955, 29769798, 30726412, 34828423, 35656873
Crohn Disease	Associate	35260635
Disease	Associate	33712029
Fundus Albipunctatus	Associate	30726412, 33801777, 35042295
Genetic Diseases Inborn	Associate	14510799, 17504850
Glaucoma Angle Closure	Associate	34399712
Hearing Loss	Associate	22842402
Hypertensive Retinopathy	Associate	32531846, 34115091, 37209970
Late Onset Disorders	Associate	12882809
Leber Congenital Amaurosis	Associate	23847139, 30726412
Macular Degeneration	Associate	12882809, 12902384, 14510799, 16113362, 16885924, 16916875, 17504850, 17653047, 20335603, 25082885, 25447119, 25675413, 26842753, 30726412, 32579694 View all (9 more)
Macular dystrophy concentric annular	Associate	39298723
Macular Dystrophy Retinal 2	Associate	25675413, 33988224
Neoplasms	Associate	39298723
Nerve Degeneration	Associate	35344225
Patterned dystrophy of retinal pigment epithelium	Associate	25675413
Pigmentary Disorder Reticulate with Systemic Manifestations	Associate	9238083
Polycystic Kidney Autosomal Recessive	Associate	9503014
Polypoidal Choroidal Vasculopathy	Associate	32579694
Progressive hearing loss stapes fixation	Associate	33452396
Refsum Disease Infantile	Associate	33452396, 34411390
Respiratory Distress Syndrome In Premature Infants	Associate	27880076, 34115091
Retinal Degeneration	Associate	21071739, 32531846, 33354892, 37466729, 7862413
Retinal Diseases	Associate	16916875, 21071739, 32423767, 32660024, 34411390, 35042295, 35344225, 35861669, 7880786
Retinal Drusen	Associate	11801511, 35861669, 7862413
Retinal Dystrophies	Associate	16916875, 17653047, 18289629, 25675413, 26842753, 28761320, 30726412, 30926958, 33712029, 34828423, 36848389, 39298723, 39596324, 7880786, 9238083, 9279751 View all (1 more)
Retinal Neoplasms	Associate	9238083
Retinitis Pigmentosa	Associate	10193525, 11864893, 14510799, 15994872, 16799052, 16916875, 17653047, 21347327, 22842402, 23049240, 23559859, 23847139, 23950152, 25447119, 25675413 View all (22 more)
Scotoma	Associate	35861669
Stargardt Disease	Associate	16916875, 17504850, 22863181, 27813578, 28050124, 30726412, 32579694, 32660024, 33988224, 34073554, 34486473, 35353811
Stargardt disease 3	Associate	16364203, 16916875
Sveinsson Chorioretinal Atrophy	Associate	16113362, 32660024, 8644804
Usher Syndromes	Associate	22842402, 35656873
Vision Disorders	Associate	16113362, 30217183, 35861669
Vitelliform Macular Dystrophy	Associate	16885924, 23993198, 30726412, 32660024, 35900727

PRPH2 (peripherin 2)