MSeqDR Mitochondrial disease browser phenotype pathogenic gene and mutation portal

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

MSeqDR Mitochondrial Disease Portal

*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
Most Studied CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO

Disease Browser
Parent Node: Retinitis Pigmentosa (D012174)
..Starting node ..Retinitis Pigmentosa 4 (C566706)
Child Nodes:
Sister Nodes:
..Aldred syndrome (C537046)
..Alstrom Syndrome (D056769)
..Amaurosis hypertrichosis (C536604)
..Bardet-Biedl Syndrome (D020788) 13
..Bork Stender Schmidt syndrome (C536576)
..Chang Davidson Carlson syndrome (C538075)
..Chromosome Xp11.3 Deletion Syndrome (C564481)
..Cone Dystrophy 3 (C566579)
..Cone Dystrophy 4 (C567758)
..Cone Dystrophy, X-Linked, 1 (C564439)
..Cone dystrophy, x-linked, with tapetal-like sheen (C535975)
..Cone rod dystrophy amelogenesis imperfecta (C535976)
..Cone-Rod Dystrophy 1 (C563469)
..Cone-Rod Dystrophy 10 (C564597)
..Cone-Rod Dystrophy 11 (C563671)
..Cone-Rod Dystrophy 12 (C567206)
..Cone-Rod Dystrophy 13 (C567698)
..CONE-ROD DYSTROPHY 16 (OMIM:614500)
..CONE-ROD DYSTROPHY 18 (OMIM:615374)
..CONE-ROD DYSTROPHY 19 (OMIM:615860)
..CONE-ROD DYSTROPHY 2 (OMIM:120970)
..CONE-ROD DYSTROPHY 20 (OMIM:615973)
..CONE-ROD DYSTROPHY 21 (OMIM:616502)
..Cone-Rod Dystrophy 3 (C565827)
..Cone-Rod Dystrophy 5 (C563415)
..Cone-Rod Dystrophy 7 (C566350)
..Cone-Rod Dystrophy 8 (C565322)
..CONE-ROD DYSTROPHY AND HEARING LOSS (OMIM:617236)
..Cone-Rod Dystrophy, X-Linked, 2 (C564717)
..Cone-Rod Dystrophy, X-Linked, 3 (C564507)
..Cone-Rod Dystrophy, X-Linked, Type 1 (C564438)
..Cutis Verticis Gyrata, Retinitis Pigmentosa, and Sensorineural Deafness (C565306)
..Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities (C567467)
..Flynn Aird syndrome (C537066)
..Furukawa Takagi Nakao syndrome (C538193)
..Hardikar syndrome (C535632)
..Kearns-Sayre Syndrome (D007625) 1 L: 00143;
..Leber Congenital Amaurosis 14 (C567636)
..Leber Congenital Amaurosis 3 (C565814)
..Light Fixation Seizure Syndrome (C566367)
..MACULAR DYSTROPHY WITH CENTRAL CONE INVOLVEMENT (OMIM:616170)
..Mainzer-Saldino Disease (C535463)
..Meckel syndrome type 1 (C536133)
..Mental Retardation, Severe, With Spasticity And Pigmentary Tapetoretinal Degeneration (C566429)
..Metaphyseal Chondrodysplasia with Retinitis Pigmentosa (C565398)
..Microcephaly, Retinitis Pigmentosa, and Sutural Cataract (C563296)
..MICROPHTHALMIA, ISOLATED 5 (OMIM:611040)
..Microphthalmia, Posterior, With Retinitis Pigmentosa, Foveoschisis, And Optic Disc Drusen (C567024)
..Mirhosseini-Holmes-Walton syndrome (C538367)
..Muscular Atrophy, Ataxia, Retinitis Pigmentosa, and Diabetes Mellitus (C562774)
..Neuropathy ataxia and retinitis pigmentosa (C537396) L: 00168;
..Newfoundland Rod-Cone Dystrophy (C564391)
..Oculotrichodysplasia (C564934)
..Oliver-McFarlane syndrome (C536554)
..Pallidal Degeneration, Progressive, with Retinitis Pigmentosa (C564910)
..Peripheral Cone Dystrophy (C563813)
..Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract (C567203)
..Posterior column ataxia with retinitis pigmentosa (C536343)
..Radioulnar synostosis retinal pigment abnormalities (C536270)
..Retinal cone dystrophy 2 (C538363)
..Retinal Cone Dystrophy 3A (C566483)
..Retinal Cone Dystrophy 3B (C563678)
..Retinal Cone Dystrophy 4 (C566470)
..Retinitis pigmentosa 1 (C538365)
..Retinitis Pigmentosa 10 (C566715)
..Retinitis Pigmentosa 11 (C563991)
..Retinitis Pigmentosa 12 (C563999)
..Retinitis Pigmentosa 13 (C564008)
..Retinitis Pigmentosa 14 (C563992)
..Retinitis Pigmentosa 17 (C563437)
..Retinitis Pigmentosa 18 (C563320)
..Retinitis Pigmentosa 19 (C566637)
..Retinitis Pigmentosa 2 (C567523)
..Retinitis Pigmentosa 20 (C566718)
..RETINITIS PIGMENTOSA 22 (OMIM:602594)
..RETINITIS PIGMENTOSA 23 (OMIM:300424)
..RETINITIS PIGMENTOSA 24 (OMIM:300155)
..Retinitis Pigmentosa 25 (C566425)
..Retinitis Pigmentosa 26 (C564249)
..Retinitis Pigmentosa 27 (C563526)
..RETINITIS PIGMENTOSA 28 (OMIM:606068)
..Retinitis Pigmentosa 29 (C567403)
..Retinitis Pigmentosa 3 (C564520)
..Retinitis Pigmentosa 30 (C564310)
..Retinitis Pigmentosa 31 (C563685)
..Retinitis Pigmentosa 32 (C563689)
..Retinitis Pigmentosa 33 (C563676)
..Retinitis Pigmentosa 34 (C564475)
..Retinitis Pigmentosa 35 (C565206)
..Retinitis Pigmentosa 36 (C566431)
..Retinitis Pigmentosa 37 (C567005)
..RETINITIS PIGMENTOSA 38 (OMIM:613862)
..RETINITIS PIGMENTOSA 39 (OMIM:613809)
..Retinitis Pigmentosa 4 (C566706)
..RETINITIS PIGMENTOSA 40 (OMIM:613801)
..Retinitis Pigmentosa 41 (C567422)
..Retinitis Pigmentosa 42 (C567854)
..RETINITIS PIGMENTOSA 43 (OMIM:613810)
..RETINITIS PIGMENTOSA 44 (OMIM:613769)
..RETINITIS PIGMENTOSA 45 (OMIM:613767)
..Retinitis Pigmentosa 46 (C567249)
..RETINITIS PIGMENTOSA 47 (OMIM:613758)
..RETINITIS PIGMENTOSA 48 (OMIM:613827)
..RETINITIS PIGMENTOSA 49 (OMIM:613756)
..RETINITIS PIGMENTOSA 50 (OMIM:613194)
..RETINITIS PIGMENTOSA 51 (OMIM:613464)
..RETINITIS PIGMENTOSA 54 (OMIM:613428)
..RETINITIS PIGMENTOSA 55 (OMIM:613575)
..RETINITIS PIGMENTOSA 56 (OMIM:613581)
..RETINITIS PIGMENTOSA 57 (OMIM:613582)
..RETINITIS PIGMENTOSA 58 (OMIM:613617)
..RETINITIS PIGMENTOSA 59 (OMIM:613861)
..Retinitis Pigmentosa 6 (C564065)
..RETINITIS PIGMENTOSA 60 (OMIM:613983)
..RETINITIS PIGMENTOSA 61 (OMIM:614180)
..RETINITIS PIGMENTOSA 62 (OMIM:614181)
..RETINITIS PIGMENTOSA 66 (OMIM:615233)
..RETINITIS PIGMENTOSA 67 (OMIM:615565)
..RETINITIS PIGMENTOSA 68 (OMIM:615725)
..RETINITIS PIGMENTOSA 69 (OMIM:615780)
..Retinitis Pigmentosa 7 (C564284)
..Retinitis Pigmentosa 7 With Bull'S-Eye Maculopathy (C567264)
..Retinitis Pigmentosa 7, Digenic (C567263)
..RETINITIS PIGMENTOSA 70 (OMIM:615922)
..RETINITIS PIGMENTOSA 71 (OMIM:616394)
..RETINITIS PIGMENTOSA 72 (OMIM:616469)
..RETINITIS PIGMENTOSA 73 (OMIM:616544)
..RETINITIS PIGMENTOSA 74 (OMIM:616562)
..RETINITIS PIGMENTOSA 75 (OMIM:617023)
..RETINITIS PIGMENTOSA 76 (OMIM:617123)
..RETINITIS PIGMENTOSA 77 (OMIM:617304)
..RETINITIS PIGMENTOSA 78 (OMIM:617433)
..RETINITIS PIGMENTOSA 79 (OMIM:617460)
..RETINITIS PIGMENTOSA 82 WITH OR WITHOUT SITUS INVERSUS (OMIM:615434)
..Retinitis Pigmentosa 9 (C566716)
..RETINITIS PIGMENTOSA AND ERYTHROCYTIC MICROCYTOSIS (OMIM:616959)
..Retinitis Pigmentosa Inversa with Deafness (C564842)
..Retinitis Pigmentosa with Paraarteriolar Preservation Of Retinal Pigment Epithelium (C564000)
..Retinitis Pigmentosa, Concentric (C567712)
..Retinitis Pigmentosa, Deafness, Mental Retardation, and Hypogonadism (C564841)
..Retinitis Pigmentosa, Late-Adult Onset (C564840)
..Retinitis Pigmentosa, Late-Onset Dominant (C567369)
..Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness (C567595)
..Retinitis Pigmentosa, Y-Linked (C564035)
..Retinopathy, Pericentral Pigmentary, Autosomal Recessive (C564838)
..Rhizomelic dysplasia, scoliosis, and retinitis pigmentosa (C537610)
..RHYNS syndrome (C537612)
..Rod-Cone Dystrophy, Sensorineural Deafness, and Fanconi-Type Renal Dysfunction (C564829)
..Senior-Loken syndrome 4 (C537581)
..Skeletal Dysplasia, Rhizomelic, with Retinitis Pigmentosa (C563806)
..Spastic Quadriplegia, Retinitis Pigmentosa, and Mental Retardation (C564808)
..Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy (C563825)
..Tapetoretinal Degeneration with Ataxia (C564788)
..Usher Syndromes (D052245) 19 L: 00160;
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:

10727

Name:

Retinitis Pigmentosa 4

Definition:

Alternative IDs:

OMIM:613731

ParentIDs:

MESH:D012174

TreeNumbers:

C11.270.684/C566706 |C11.768.585.658.500/C566706 |C16.320.290.684/C566706

Synonyms:

Retinitis Pigmentosa, Rhodopsin-Related |RP4

Slim Mappings:

Eye disease|Genetic disease (inborn)

Reference:

MedGen: C566706
MeSH: C566706
OMIM: 613731;
MSeqDR :
Genes: RHO;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0000007	Autosomal recessive inheritance
3	HP:0000512	Abnormal electroretinogram
4	HP:0000518	Cataract NAMDC: Cataracts
5	HP:0000662	Nyctalopia
6	HP:0000580	Pigmentary retinopathy NAMDC: Pigmentary retinopathy
7	HP:0000510	Rod-cone dystrophy
8	HP:0001123	Visual field defect

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_g	OtherIDs	Disease_ClinVar
NM_000539.3(RHO):c.-26A>G	6010	RHO	Benign	7984	RCV000244948\|RCV000285210\|RCV000377312\|RCV001795401\|RCV001675692\|RCV001795402;	N	MedGen:CN169374\|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791\|MONDO:MONDO:0012498,MedGen:C1864869,OMIM:610445, Orphanet:215\|MONDO:MONDO:0013395,MedGen:C3151001,OMIM:613731,Orph	3	129247551	129247551	3:g.129247551A>G	ClinGen:CA2607030	CN239263 Congenital Stationary Night Blindness, Dominant;
NM_000539.3(RHO):c.44A>G (p.Asn15Ser)	6010	RHO	Pathogenic	104893786	RCV000013917\|RCV000132598\|RCV001203907;	N	MONDO:MONDO:0013395,MedGen:C3151001,OMIM:613731, Orphanet:791\|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791\|MedGen:CN517202	3	129247620	129247620	3:g.129247620A>G	ClinGen:CA256685,UniProtKB:P08100#VAR_004766,OMIM:180380.0029	C0035334 268000 Retinitis pigmentosa;
NM_000539.3(RHO):c.45T>G (p.Asn15Lys)	6010	RHO	Pathogenic/Likely pathogenic	1578278088	RCV000987328\|RCV001858663;	N	MONDO:MONDO:0013395,MedGen:C3151001,OMIM:613731, Orphanet:791\|MedGen:CN517202	3	129247621	129247621	3:g.129247621T>G	-
NM_000539.3(RHO):c.50C>T (p.Thr17Met)	6010	RHO	Pathogenic	104893769	RCV000013892\|RCV000787682\|RCV001075619\|RCV001090660\|RCV001002098;	N	MONDO:MONDO:0013395,MedGen:C3151001,OMIM:613731, Orphanet:791\|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791\|Human Phenotype Ontology:HP:0000556,Human Phenotype Ontology:HP:0007	3	129247626	129247626	3:g.129247626C>T	ClinGen:CA256665,UniProtKB:P08100#VAR_004767,OMIM:180380.0006	C3151001 613731 Retinitis pigmentosa 4;
NM_000539.3(RHO):c.50C>A (p.Thr17Lys)	6010	RHO	Likely pathogenic	104893769	RCV001265170\|RCV001305331;	N	MONDO:MONDO:0013395,MedGen:C3151001,OMIM:613731, Orphanet:791\|MedGen:CN517202	3	129247626	129247626	3:g.129247626C>A	-
NM_000539.3(RHO):c.53G>A (p.Gly18Asp)	6010	RHO	Conflicting interpretations of pathogenicity	200946638	RCV000767356\|RCV001003166\|RCV001366656;	N	MONDO:MONDO:0013395,MedGen:C3151001,OMIM:613731, Orphanet:791\|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791\|MedGen:CN517202	3	129247629	129247629	NC_000003.11:g.129247629G>A	-
NM_000539.3(RHO):c.66C>A (p.Ser22Arg)	6010	RHO	Uncertain significance	749567084	RCV001265171;	N	MONDO:MONDO:0013395,MedGen:C3151001,OMIM:613731, Orphanet:791	3	129247642	129247642	3:g.129247642C>A	-
NM_000539.3(RHO):c.67C>G (p.Pro23Ala)	6010	RHO	Pathogenic	104893797	RCV000013930;	N	MONDO:MONDO:0013395,MedGen:C3151001,OMIM:613731, Orphanet:791	3	129247643	129247643	NC_000003.11:g.129247643C>G	ClinGen:CA256695,OMIM:180380.0043	C3151001 613731 Retinitis pigmentosa 4;
NM_000539.3(RHO):c.67C>T (p.Pro23Ser)	6010	RHO	Likely pathogenic	104893797	RCV001262654;	N	MONDO:MONDO:0013395,MedGen:C3151001,OMIM:613731, Orphanet:791	3	129247643	129247643	3:g.129247643C>T	-
NM_000539.3(RHO):c.68C>A (p.Pro23His)	6010	RHO	Pathogenic	104893768	RCV000013887\|RCV000490234\|RCV000763095\|RCV001075876;	N	MONDO:MONDO:0013395,MedGen:C3151001,OMIM:613731, Orphanet:791\|MedGen:CN517202\|Human Phenotype Ontology:HP:0030642,MONDO:MONDO:0007639,MedGen:C0311338,OMIM:136880, Orphanet:227796, Orphanet:52427; MONDO:MONDO:0012498,MedGen:C1864869,OMIM:610445, Orphanet:215;	3	129247644	129247644	NC_000003.11:g.129247644C>A	ClinGen:CA256661,UniProtKB:P08100#VAR_004768,OMIM:180380.0001	CN517202 not provided;
NM_000539.3(RHO):c.116T>G (p.Met39Arg)	6010	RHO	Pathogenic/Likely pathogenic	2084756915	RCV001265172\|RCV001384459;	N	MONDO:MONDO:0013395,MedGen:C3151001,OMIM:613731, Orphanet:791\|MedGen:CN517202	3	129247692	129247692	3:g.129247692T>G	-
NM_000539.3(RHO):c.133T>C (p.Phe45Leu)	6010	RHO	Uncertain significance	104893770	RCV000013893\|RCV001851838;	N	MONDO:MONDO:0013395,MedGen:C3151001,OMIM:613731, Orphanet:791\|MedGen:C3661900	3	129247709	129247709	3:g.129247709T>C	ClinGen:CA256666,UniProtKB:P08100#VAR_004773,OMIM:180380.0007	C3151001 613731 Retinitis pigmentosa 4;
NM_000539.3(RHO):c.151G>C (p.Gly51Arg)	6010	RHO	Pathogenic	104893792	RCV000013922\|RCV001237838\|RCV003390680;	N	MONDO:MONDO:0013395,MedGen:C3151001,OMIM:613731, Orphanet:791\|MedGen:C3661900\|	3	129247727	129247727	3:g.129247727G>C	ClinGen:CA256687,UniProtKB:P08100#VAR_004776,OMIM:180380.0034	C3151001 613731 Retinitis pigmentosa 4;
NM_000539.3(RHO):c.158C>G (p.Pro53Arg)	6010	RHO	Pathogenic	28933395	RCV000013912\|RCV000504903\|RCV002513029;	N	MONDO:MONDO:0013395,MedGen:C3151001,OMIM:613731, Orphanet:791\|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791\|MedGen:CN517202	3	129247734	129247734	3:g.129247734C>G	ClinGen:CA256682,UniProtKB:P08100#VAR_004778,OMIM:180380.0024	C0035334 268000 Retinitis pigmentosa;
NM_000539.3(RHO):c.165C>A (p.Asn55Lys)	6010	RHO	Pathogenic/Likely pathogenic	1312862210	RCV001265173\|RCV001880087;	N	MONDO:MONDO:0013395,MedGen:C3151001,OMIM:613731, Orphanet:791\|MedGen:CN517202	3	129247741	129247741	3:g.129247741C>A	-
NM_000539.3(RHO):c.173C>G (p.Thr58Arg)	6010	RHO	Pathogenic/Likely pathogenic	28933394	RCV000013890\|RCV001074373\|RCV001384460;	N	MONDO:MONDO:0013395,MedGen:C3151001,OMIM:613731, Orphanet:791\|Human Phenotype Ontology:HP:0000556,Human Phenotype Ontology:HP:0007736,Human Phenotype Ontology:HP:0007910,Human Phenotype Ontology:HP:0007974,Human Phenotype Ontology:HP:0007982,MONDO:MONDO:	3	129247749	129247749	3:g.129247749C>G	ClinGen:CA256664,UniProtKB:P08100#VAR_004779,OMIM:180380.0004	C3151001 613731 Retinitis pigmentosa 4;
NM_000539.3(RHO):c.178T>C (p.Tyr60His)	6010	RHO	Uncertain significance	771007146	RCV000767357\|RCV002533923;	N	MONDO:MONDO:0013395,MedGen:C3151001,OMIM:613731, Orphanet:791\|MedGen:CN517202	3	129247754	129247754	NC_000003.11:g.129247754T>C	-
NM_000539.3(RHO):c.180C>A (p.Tyr60Ter)	6010	RHO	Pathogenic/Likely pathogenic	527236101	RCV000132596\|RCV001007975\|RCV001265175;	N	Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791\|MedGen:CN517202\|MONDO:MONDO:0013395,MedGen:C3151001,OMIM:613731, Orphanet:791	3	129247756	129247756	3:g.129247756C>A	ClinGen:CA270021	C0035334 268000 Retinitis pigmentosa;
NM_000539.3(RHO):c.185C>A (p.Thr62Asn)	6010	RHO	Uncertain significance	769464362	RCV000767358\|RCV001869053;	N	MONDO:MONDO:0013395,MedGen:C3151001,OMIM:613731, Orphanet:791\|MedGen:CN517202	3	129247761	129247761	NC_000003.11:g.129247761C>A	-
NM_000539.3(RHO):c.204_215del (p.Arg69_Leu72del)	6010	RHO	Likely pathogenic	2084757679	RCV001265176;	N	MONDO:MONDO:0013395,MedGen:C3151001,OMIM:613731, Orphanet:791	3	129247778	129247789	3:g.129247778_129247789del	OMIM:180380.0019
NM_000539.3(RHO):c.211C>T (p.Pro71Ser)	6010	RHO	Uncertain significance	1305158106	RCV001265177;	N	MONDO:MONDO:0013395,MedGen:C3151001,OMIM:613731, Orphanet:791	3	129247787	129247787	3:g.129247787C>T	-
NM_000539.3(RHO):c.218A>G (p.Asn73Ser)	6010	RHO	Pathogenic	779169631	RCV000767359\|RCV001199742;	N	MONDO:MONDO:0013395,MedGen:C3151001,OMIM:613731, Orphanet:791\|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791	3	129247794	129247794	NC_000003.11:g.129247794A>G	-
NM_000539.3(RHO):c.260T>A (p.Val87Asp)	6010	RHO	Likely pathogenic	104893771	RCV000013894\|RCV001198366;	N	MONDO:MONDO:0013395,MedGen:C3151001,OMIM:613731, Orphanet:791\|Human Phenotype Ontology:HP:0030642,MONDO:MONDO:0007639,MedGen:C0311338,OMIM:136880, Orphanet:227796, Orphanet:52427	3	129247836	129247836	3:g.129247836T>A	ClinGen:CA256667,UniProtKB:P08100#VAR_004781,OMIM:180380.0008	C3151001 613731 Retinitis pigmentosa 4;
NM_000539.3(RHO):c.266G>A (p.Gly89Asp)	6010	RHO	Pathogenic	104893772	RCV000013895\|RCV001003167\|RCV001213959\|RCV001813740;	N	MONDO:MONDO:0013395,MedGen:C3151001,OMIM:613731, Orphanet:791\|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791\|MedGen:C3661900\|Human Phenotype Ontology:HP:0030642,MONDO:MONDO:0007	3	129247842	129247842	3:g.129247842G>A	ClinGen:CA256668,UniProtKB:P08100#VAR_004782,OMIM:180380.0009	C3151001 613731 Retinitis pigmentosa 4;
NM_000539.3(RHO):c.284T>C (p.Leu95Pro)	6010	RHO	Conflicting interpretations of pathogenicity	2084758666	RCV001265178\|RCV001345144\|RCV002287489;	N	MONDO:MONDO:0013395,MedGen:C3151001,OMIM:613731, Orphanet:791\|MedGen:CN517202\|Human Phenotype Ontology:HP:0000546,Human Phenotype Ontology:HP:0007632,Human Phenotype Ontology:HP:0007863,MONDO:MONDO:0004580,MeSH:D012162,MedGen:C0035304	3	129247860	129247860	3:g.129247860T>C	-
NM_000539.3(RHO):c.302G>T (p.Gly101Val)	6010	RHO	Pathogenic	759945007	RCV000767360;	N	MONDO:MONDO:0013395,MedGen:C3151001,OMIM:613731, Orphanet:791	3	129247878	129247878	NC_000003.11:g.129247878G>T	-
NM_000539.3(RHO):c.310G>A (p.Val104Ile)	6010	RHO	Uncertain significance	144317206	RCV001067390\|RCV002482112;	N	MedGen:C3661900\|Human Phenotype Ontology:HP:0030642,MONDO:MONDO:0007639,MedGen:C0311338,OMIM:136880, Orphanet:227796, Orphanet:52427; MONDO:MONDO:0013395,MedGen:C3151001,OMIM:613731, Orphanet:791; MONDO:MONDO:0012498,MedGen:C1864869,OMIM:610445, Orphanet:215	3	129247886	129247886	3:g.129247886G>A	-
NM_000539.3(RHO):c.316G>T (p.Gly106Trp)	6010	RHO	Pathogenic/Likely pathogenic	104893773	RCV000013896\|RCV001073422\|RCV001857345;	N	MONDO:MONDO:0013395,MedGen:C3151001,OMIM:613731, Orphanet:791\|Human Phenotype Ontology:HP:0000556,Human Phenotype Ontology:HP:0007736,Human Phenotype Ontology:HP:0007910,Human Phenotype Ontology:HP:0007974,Human Phenotype Ontology:HP:0007982,MONDO:MONDO:	3	129247892	129247892	3:g.129247892G>T	ClinGen:CA256669,UniProtKB:P08100#VAR_004787,OMIM:180380.0010	C3151001 613731 Retinitis pigmentosa 4;
NM_000539.3(RHO):c.316G>A (p.Gly106Arg)	6010	RHO	Pathogenic/Likely pathogenic	104893773	RCV000013913\|RCV000787679\|RCV001074389\|RCV001207877;	N	MONDO:MONDO:0013395,MedGen:C3151001,OMIM:613731, Orphanet:791\|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791\|Human Phenotype Ontology:HP:0000556,Human Phenotype Ontology:HP:0007	3	129247892	129247892	3:g.129247892G>A	ClinGen:CA256683,UniProtKB:P08100#VAR_004786,OMIM:180380.0025	C3151001 613731 Retinitis pigmentosa 4;
NM_000539.3(RHO):c.317G>T (p.Gly106Val)	6010	RHO	Likely pathogenic	1578278417	RCV000987329;	N	MONDO:MONDO:0013395,MedGen:C3151001,OMIM:613731, Orphanet:791	3	129247893	129247893	3:g.129247893G>T	-
NM_000539.3(RHO):c.328T>G (p.Cys110Gly)	6010	RHO	Likely pathogenic	1578278438	RCV000786865;	N	MONDO:MONDO:0013395,MedGen:C3151001,OMIM:613731, Orphanet:791	3	129247904	129247904	3:g.129247904T>G	-
NM_000539.3(RHO):c.329G>A (p.Cys110Tyr)	6010	RHO	Pathogenic	104893787	RCV000013910\|RCV001073635\|RCV001234924;	N	MONDO:MONDO:0013395,MedGen:C3151001,OMIM:613731, Orphanet:791\|Human Phenotype Ontology:HP:0000556,Human Phenotype Ontology:HP:0007736,Human Phenotype Ontology:HP:0007910,Human Phenotype Ontology:HP:0007974,Human Phenotype Ontology:HP:0007982,MONDO:MONDO:	3	129247905	129247905	3:g.129247905G>A	ClinGen:CA256681,UniProtKB:P08100#VAR_004790,OMIM:180380.0035	C3151001 613731 Retinitis pigmentosa 4;
NM_000539.3(RHO):c.329G>T (p.Cys110Phe)	6010	RHO	Likely pathogenic	-1	RCV003389621;	N	MONDO:MONDO:0013395,MedGen:C3151001,OMIM:613731, Orphanet:791	3	129247905	129247905		-
NM_000539.3(RHO):c.341G>A (p.Gly114Asp)	6010	RHO	Pathogenic	104893788	RCV000013923\|RCV001851839;	N	MONDO:MONDO:0013395,MedGen:C3151001,OMIM:613731, Orphanet:791\|MedGen:CN517202	3	129247917	129247917	3:g.129247917G>A	ClinGen:CA256688,UniProtKB:P08100#VAR_004791,OMIM:180380.0036	C3151001 613731 Retinitis pigmentosa 4;
NM_000539.3(RHO):c.353_361+3del	6010	RHO	Likely pathogenic	2084759300	RCV001262653;	N	MONDO:MONDO:0013395,MedGen:C3151001,OMIM:613731, Orphanet:791	3	129247928	129247939	3:g.129247928_129247939del	-
NM_000539.3(RHO):c.362G>T (p.Gly121Val)	6010	RHO	Likely pathogenic	2084774644	RCV001265184\|RCV001265183;	N	MONDO:MONDO:0012498,MedGen:C1864869,OMIM:610445, Orphanet:215\|MONDO:MONDO:0013395,MedGen:C3151001,OMIM:613731, Orphanet:791	3	129249719	129249719	3:g.129249719G>T	-
NM_000539.3(RHO):c.392T>C (p.Leu131Pro)	6010	RHO	Pathogenic/Likely pathogenic	1553781140	RCV000585361\|RCV001265185;	N	MedGen:C3661900\|MONDO:MONDO:0013395,MedGen:C3151001,OMIM:613731, Orphanet:791	3	129249749	129249749	3:g.129249749T>C	ClinGen:CA354497998	CN517202 not provided;
NM_000539.3(RHO):c.399C>A (p.Ile133=)	6010	RHO	Conflicting interpretations of pathogenicity	372812523	RCV001148424\|RCV001148423\|RCV001324702\|RCV001535704;	N	MONDO:MONDO:0012498,MedGen:C1864869,OMIM:610445, Orphanet:215\|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791\|MedGen:CN517202\|MONDO:MONDO:0013395,MedGen:C3151001,OMIM:613731,Orph	3	129249756	129249756	3:g.129249756C>A	-
NM_000539.3(RHO):c.400G>A (p.Glu134Lys)	6010	RHO	Likely pathogenic	-1	RCV003389582;	N	MONDO:MONDO:0013395,MedGen:C3151001,OMIM:613731, Orphanet:791	3	129249757	129249757		-
NM_000539.3(RHO):c.403C>T (p.Arg135Trp)	6010	RHO	Pathogenic	104893775	RCV000013903\|RCV000013902\|RCV000132597\|RCV000413771\|RCV001074272;	N	MONDO:MONDO:0018877,MedGen:C1405854, Orphanet:52427\|MONDO:MONDO:0013395,MedGen:C3151001,OMIM:613731, Orphanet:791\|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791\|MedGen:CN517202\|H	3	129249760	129249760	3:g.129249760C>T	ClinGen:CA122819,UniProtKB:P08100#VAR_004797,OMIM:180380.0012	CN517202 not provided;
NM_000539.3(RHO):c.404G>T (p.Arg135Leu)	6010	RHO	Pathogenic	104893774	RCV000013898\|RCV000256085;	N	MONDO:MONDO:0013395,MedGen:C3151001,OMIM:613731, Orphanet:791\|MedGen:CN517202	3	129249761	129249761	3:g.129249761G>T	OMIM:180380.0011,ClinGen:CA256671,UniProtKB:P08100#VAR_004796	CN517202 not provided;
NM_000539.3(RHO):c.408C>A (p.Tyr136Ter)	6010	RHO	Pathogenic/Likely pathogenic	200248198	RCV000785958\|RCV001052650;	N	MONDO:MONDO:0013395,MedGen:C3151001,OMIM:613731, Orphanet:791\|MedGen:CN517202	3	129249765	129249765	3:g.129249765C>A	-
NM_000539.3(RHO):c.439C>T (p.Arg147Cys)	6010	RHO	Uncertain significance	200165530	RCV000767361\|RCV001055425;	N	MONDO:MONDO:0013395,MedGen:C3151001,OMIM:613731, Orphanet:791\|MedGen:CN517202	3	129249796	129249796	NC_000003.11:g.129249796C>T	-
NM_000539.3(RHO):c.448G>A (p.Glu150Lys)	6010	RHO	Pathogenic/Likely pathogenic	104893791	RCV000013921\|RCV001045970\|RCV001265186\|RCV003105773;	N	MedGen:C4016366\|MedGen:C3661900\|MONDO:MONDO:0013395,MedGen:C3151001,OMIM:613731, Orphanet:791\|MedGen:C0339526	3	129249805	129249805	3:g.129249805G>A	OMIM:180380.0033,ClinGen:CA122824,UniProtKB:P08100#VAR_004799	C4016366 Retinitis pigmentosa 4, autosomal recessive;
NM_000539.3(RHO):c.489G>A (p.Met163Ile)	6010	RHO	Likely pathogenic	-1	RCV003389585;	N	MONDO:MONDO:0013395,MedGen:C3151001,OMIM:613731, Orphanet:791	3	129249846	129249846		-
NM_000539.3(RHO):c.491C>A (p.Ala164Glu)	6010	RHO	Pathogenic	104893793	RCV000013924\|RCV001381859;	N	MONDO:MONDO:0013395,MedGen:C3151001,OMIM:613731, Orphanet:791\|MedGen:CN517202	3	129249848	129249848	3:g.129249848C>A	ClinGen:CA256689,UniProtKB:P08100#VAR_004800,OMIM:180380.0037	C3151001 613731 Retinitis pigmentosa 4;
NM_000539.3(RHO):c.509C>G (p.Pro170Arg)	6010	RHO	Pathogenic/Likely pathogenic	1553781176	RCV000505129\|RCV000987330\|RCV001381860;	N	Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791\|MONDO:MONDO:0013395,MedGen:C3151001,OMIM:613731, Orphanet:791\|MedGen:CN517202	3	129249866	129249866	3:g.129249866C>G	ClinGen:CA354498718	C0035334 268000 Retinitis pigmentosa;
NM_000539.3(RHO):c.511C>T (p.Pro171Ser)	6010	RHO	Pathogenic	104893794	RCV000013925\|RCV001003169\|RCV001075386\|RCV001381861;	N	MONDO:MONDO:0013395,MedGen:C3151001,OMIM:613731, Orphanet:791\|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791\|Human Phenotype Ontology:HP:0000556,Human Phenotype Ontology:HP:0007	3	129249868	129249868	3:g.129249868C>T	ClinGen:CA256690,UniProtKB:P08100#VAR_004805,OMIM:180380.0038	C3151001 613731 Retinitis pigmentosa 4;
NM_000539.3(RHO):c.527C>T (p.Ser176Phe)	6010	RHO	Pathogenic/Likely pathogenic	2084776365	RCV001061969\|RCV001265190;	N	MedGen:CN517202\|MONDO:MONDO:0013395,MedGen:C3151001,OMIM:613731, Orphanet:791	3	129249884	129249884	3:g.129249884C>T	-
NM_000539.3(RHO):c.533A>G (p.Tyr178Cys)	6010	RHO	Pathogenic/Likely pathogenic	104893776	RCV000013899\|RCV000787683\|RCV001229671;	N	MONDO:MONDO:0013395,MedGen:C3151001,OMIM:613731, Orphanet:791\|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791\|MedGen:C3661900	3	129251096	129251096	3:g.129251096A>G	ClinGen:CA256672,UniProtKB:P08100#VAR_004806,OMIM:180380.0013	C3151001 613731 Retinitis pigmentosa 4;
NM_000539.3(RHO):c.538C>A (p.Pro180Thr)	6010	RHO	Likely pathogenic	1560046837	RCV000767362;	N	MONDO:MONDO:0013395,MedGen:C3151001,OMIM:613731, Orphanet:791	3	129251101	129251101	NC_000003.11:g.129251101C>A	-
NM_000539.3(RHO):c.539C>T (p.Pro180Leu)	6010	RHO	Pathogenic/Likely pathogenic	2084785483	RCV001265192\|RCV001880088;	N	MONDO:MONDO:0013395,MedGen:C3151001,OMIM:613731, Orphanet:791\|MedGen:CN517202	3	129251102	129251102	3:g.129251102C>T	-
NM_000539.3(RHO):c.541G>A (p.Glu181Lys)	6010	RHO	Pathogenic/Likely pathogenic	775557680	RCV000177081\|RCV000504731\|RCV000724301\|RCV001074893;	N	MONDO:MONDO:0013395,MedGen:C3151001,OMIM:613731, Orphanet:791\|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791\|MedGen:C3661900\|Human Phenotype Ontology:HP:0000556,Human Phenotype	3	129251104	129251104	3:g.129251104G>A	ClinGen:CA275168,UniProtKB:P08100#VAR_004808	C0035334 268000 Retinitis pigmentosa;
NM_000539.3(RHO):c.544G>A (p.Gly182Ser)	6010	RHO	Pathogenic	104893780	RCV000013908\|RCV001074816\|RCV001857346;	N	MONDO:MONDO:0013395,MedGen:C3151001,OMIM:613731, Orphanet:791\|Human Phenotype Ontology:HP:0000556,Human Phenotype Ontology:HP:0007736,Human Phenotype Ontology:HP:0007910,Human Phenotype Ontology:HP:0007974,Human Phenotype Ontology:HP:0007982,MONDO:MONDO:	3	129251107	129251107	3:g.129251107G>A	ClinGen:CA256679,UniProtKB:P08100#VAR_004809,OMIM:180380.0021	C3151001 613731 Retinitis pigmentosa 4;
NM_000539.3(RHO):c.545_546delinsAA (p.Gly182Glu)	6010	RHO	Likely pathogenic	2084785588	RCV001265193;	N	MONDO:MONDO:0013395,MedGen:C3151001,OMIM:613731, Orphanet:791	3	129251108	129251109	NC_000003.11:g.129251108_129251109delinsAA	-
NM_000539.3(RHO):c.553T>C (p.Cys185Arg)	6010	RHO	Pathogenic/Likely pathogenic	1236550448	RCV001265194\|RCV001377164;	N	MONDO:MONDO:0013395,MedGen:C3151001,OMIM:613731, Orphanet:791\|MedGen:CN517202	3	129251116	129251116	3:g.129251116T>C	-
NM_000539.3(RHO):c.557C>G (p.Ser186Trp)	6010	RHO	Pathogenic	371288618	RCV000987331;	N	MONDO:MONDO:0013395,MedGen:C3151001,OMIM:613731, Orphanet:791	3	129251120	129251120	3:g.129251120C>G	-
NM_000539.3(RHO):c.559T>C (p.Cys187Arg)	6010	RHO	Likely pathogenic	2084785760	RCV001265195;	N	MONDO:MONDO:0013395,MedGen:C3151001,OMIM:613731, Orphanet:791	3	129251122	129251122	3:g.129251122T>C	-
NM_000539.3(RHO):c.560G>A (p.Cys187Tyr)	6010	RHO	Pathogenic/Likely pathogenic	1578280588	RCV001003171\|RCV001229176\|RCV001265196;	N	Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791\|MedGen:CN517202\|MONDO:MONDO:0013395,MedGen:C3151001,OMIM:613731, Orphanet:791	3	129251123	129251123	3:g.129251123G>A	-
NM_000539.3(RHO):c.563G>A (p.Gly188Glu)	6010	RHO	Pathogenic/Likely pathogenic	1424131846	RCV001001281\|RCV001041691\|RCV001265198;	N	MedGen:CN169374\|MedGen:CN517202\|MONDO:MONDO:0013395,MedGen:C3151001,OMIM:613731, Orphanet:791	3	129251126	129251126	3:g.129251126G>A	-
NM_000539.3(RHO):c.568G>A (p.Asp190Asn)	6010	RHO	Pathogenic	104893779	RCV000013897\|RCV001056948;	N	MONDO:MONDO:0013395,MedGen:C3151001,OMIM:613731, Orphanet:791\|MedGen:CN517202	3	129251131	129251131	3:g.129251131G>A	ClinGen:CA256670,UniProtKB:P08100#VAR_004813,OMIM:180380.0017	C3151001 613731 Retinitis pigmentosa 4;
NM_000539.3(RHO):c.568G>T (p.Asp190Tyr)	6010	RHO	Pathogenic	104893779	RCV000013915\|RCV000504953\|RCV001386997;	N	MONDO:MONDO:0013395,MedGen:C3151001,OMIM:613731, Orphanet:791\|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791\|MedGen:CN517202	3	129251131	129251131	3:g.129251131G>T	ClinGen:CA256684,UniProtKB:P08100#VAR_004815,OMIM:180380.0027	C0035334 268000 Retinitis pigmentosa;
NM_000539.3(RHO):c.569A>G (p.Asp190Gly)	6010	RHO	Pathogenic	104893777	RCV000013900\|RCV001386998;	N	MONDO:MONDO:0013395,MedGen:C3151001,OMIM:613731, Orphanet:791\|MedGen:CN517202	3	129251132	129251132	3:g.129251132A>G	ClinGen:CA256673,UniProtKB:P08100#VAR_004814,OMIM:180380.0014	C3151001 613731 Retinitis pigmentosa 4;
NM_000539.3(RHO):c.571T>A (p.Tyr191Asn)	6010	RHO	Likely pathogenic	1578280614	RCV001027721;	N	MONDO:MONDO:0013395,MedGen:C3151001,OMIM:613731, Orphanet:791	3	129251134	129251134	3:g.129251134T>A	-
NM_000539.3(RHO):c.571T>G (p.Tyr191Asp)	6010	RHO	Uncertain significance	1578280614	RCV001265199\|RCV001370917;	N	MONDO:MONDO:0013395,MedGen:C3151001,OMIM:613731, Orphanet:791\|MedGen:CN517202	3	129251134	129251134	3:g.129251134T>G	-
NM_000539.3(RHO):c.620T>G (p.Met207Arg)	6010	RHO	Pathogenic	104893782	RCV000013918\|RCV001075474;	N	MONDO:MONDO:0013395,MedGen:C3151001,OMIM:613731, Orphanet:791\|Human Phenotype Ontology:HP:0000556,Human Phenotype Ontology:HP:0007736,Human Phenotype Ontology:HP:0007910,Human Phenotype Ontology:HP:0007974,Human Phenotype Ontology:HP:0007982,MONDO:MONDO:	3	129251183	129251183	3:g.129251183T>G	ClinGen:CA256686,UniProtKB:P08100#VAR_004816,OMIM:180380.0028,OMIM:180380.0030	C3151001 613731 Retinitis pigmentosa 4;
NM_000539.3(RHO):c.632A>C (p.His211Pro)	6010	RHO	Likely pathogenic	28933993	RCV000013901\|RCV001074697;	N	MONDO:MONDO:0013395,MedGen:C3151001,OMIM:613731, Orphanet:791\|Human Phenotype Ontology:HP:0000556,Human Phenotype Ontology:HP:0007736,Human Phenotype Ontology:HP:0007910,Human Phenotype Ontology:HP:0007974,Human Phenotype Ontology:HP:0007982,MONDO:MONDO:	3	129251195	129251195	3:g.129251195A>C	ClinGen:CA256674,UniProtKB:P08100#VAR_004818,OMIM:180380.0018	C3151001 613731 Retinitis pigmentosa 4;
NM_000539.3(RHO):c.643C>G (p.Pro215Ala)	6010	RHO	Likely pathogenic	2108750367	RCV001591836\|RCV002571159;	N	MONDO:MONDO:0013395,MedGen:C3151001,OMIM:613731, Orphanet:791\|MedGen:C3661900	3	129251206	129251206	129251206	-
NM_000539.3(RHO):c.673C>T (p.Gln225Ter)	6010	RHO	Likely pathogenic	752076372	RCV001265201;	N	MONDO:MONDO:0013395,MedGen:C3151001,OMIM:613731, Orphanet:791	3	129251236	129251236	3:g.129251236C>T	-
NM_000539.3(RHO):c.730C>T (p.Gln244Ter)	6010	RHO	Likely pathogenic	1273934052	RCV001265202;	N	MONDO:MONDO:0013395,MedGen:C3151001,OMIM:613731, Orphanet:791	3	129251409	129251409	3:g.129251409C>T	-
NM_000539.3(RHO):c.754C>T (p.Arg252Cys)	6010	RHO	Uncertain significance	752805805	RCV001145776\|RCV001145777\|RCV003389487;	N	MONDO:MONDO:0012498,MedGen:C1864869,OMIM:610445, Orphanet:215\|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791\|MONDO:MONDO:0013395,MedGen:C3151001,OMIM:613731, Orphanet:791	3	129251433	129251433	3:g.129251433C>T	-
NM_000539.3(RHO):c.755G>A (p.Arg252His)	6010	RHO	Uncertain significance	765438313	RCV000767363\|RCV001855963;	N	MONDO:MONDO:0013395,MedGen:C3151001,OMIM:613731, Orphanet:791\|MedGen:CN517202	3	129251434	129251434	NC_000003.11:g.129251434G>A	-
NM_000539.3(RHO):c.766_777del (p.Ile256_Ile259del)	6010	RHO	Uncertain significance	2084789093	RCV001265205\|RCV003324560;	N	MONDO:MONDO:0013395,MedGen:C3151001,OMIM:613731, Orphanet:791\|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791	3	129251435	129251446	3:g.129251435_129251446del	-
NM_000539.3(RHO):c.778_789del (p.Ala260_Ile263del)	6010	RHO	Uncertain significance	2084789357	RCV001265159;	N	MONDO:MONDO:0013395,MedGen:C3151001,OMIM:613731, Orphanet:791	3	129251454	129251465	3:g.129251454_129251465del	-
NM_000539.3(RHO):c.789CTG[1] (p.Cys264del)	6010	RHO	Pathogenic/Likely pathogenic	121918590	RCV000013926\|RCV001386999;	N	MONDO:MONDO:0013395,MedGen:C3151001,OMIM:613731, Orphanet:791\|MedGen:CN517202	3	129251468	129251470	3:g.129251468_129251470del	ClinGen:CA256691,OMIM:180380.0039	C3151001 613731 Retinitis pigmentosa 4;
NM_000539.3(RHO):c.800C>T (p.Pro267Leu)	6010	RHO	Pathogenic	104893781	RCV000013909\|RCV001003172\|RCV001582479;	N	MONDO:MONDO:0013395,MedGen:C3151001,OMIM:613731, Orphanet:791\|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791\|MedGen:CN517202	3	129251479	129251479	3:g.129251479C>T	OMIM:180380.0022,ClinGen:CA256680,UniProtKB:P08100#VAR_004825	C3151001 613731 Retinitis pigmentosa 4;
NM_000539.3(RHO):c.810C>A (p.Ser270Arg)	6010	RHO	Pathogenic/Likely pathogenic	768210562	RCV000787684\|RCV001387000\|RCV001265161;	N	Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791\|MedGen:CN517202\|MONDO:MONDO:0013395,MedGen:C3151001,OMIM:613731, Orphanet:791	3	129251489	129251489	3:g.129251489C>A	-
NM_000539.3(RHO):c.851G>A (p.Gly284Asp)	6010	RHO	Likely pathogenic	2084791045	RCV002251232;	N	MONDO:MONDO:0013395,MedGen:C3151001,OMIM:613731, Orphanet:791	3	129251530	129251530	129251530	-
NM_000539.3(RHO):c.886A>G (p.Lys296Glu)	6010	RHO	Pathogenic	29001653	RCV000013905\|RCV002513028;	N	MONDO:MONDO:0013395,MedGen:C3151001,OMIM:613731, Orphanet:791\|MedGen:CN517202	3	129251565	129251565	3:g.129251565A>G	ClinGen:CA256677,UniProtKB:P08100#VAR_004828,OMIM:180380.0016	C3151001 613731 Retinitis pigmentosa 4;
NM_000539.3(RHO):c.886A>C (p.Lys296Gln)	6010	RHO	Likely pathogenic	29001653	RCV001265162;	N	MONDO:MONDO:0013395,MedGen:C3151001,OMIM:613731, Orphanet:791	3	129251565	129251565	3:g.129251565A>C	-
NM_000539.3(RHO):c.888G>C (p.Lys296Asn)	6010	RHO	Pathogenic	2084793009	RCV001228505\|RCV001265163;	N	MedGen:CN517202\|MONDO:MONDO:0013395,MedGen:C3151001,OMIM:613731, Orphanet:791	3	129251567	129251567	3:g.129251567G>C	-
NM_000539.3(RHO):c.895G>A (p.Ala299Thr)	6010	RHO	Uncertain significance	779665096	RCV000767364\|RCV001347353;	N	MONDO:MONDO:0013395,MedGen:C3151001,OMIM:613731, Orphanet:791\|MedGen:CN517202	3	129251574	129251574	NC_000003.11:g.129251574G>A	-
NM_000539.3(RHO):c.913A>G (p.Ile305Val)	6010	RHO	Uncertain significance	199701338	RCV000767365;	N	MONDO:MONDO:0013395,MedGen:C3151001,OMIM:613731, Orphanet:791	3	129251592	129251592	NC_000003.11:g.129251592A>G	-
NM_000539.3(RHO):c.929del (p.Asn310fs)	6010	RHO	Likely pathogenic	2084793386	RCV001265164;	N	MONDO:MONDO:0013395,MedGen:C3151001,OMIM:613731, Orphanet:791	3	129251607	129251607	3:g.129251607_129251607del	-
NM_000539.3(RHO):c.936+1G>T	6010	RHO	Pathogenic/Likely pathogenic	776014770	RCV001060212\|RCV001265165\|RCV001724222;	N	MedGen:CN517202\|MONDO:MONDO:0013395,MedGen:C3151001,OMIM:613731, Orphanet:791\|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791	3	129251616	129251616	3:g.129251616G>T	OMIM:180380.0026
NM_000539.3(RHO):c.937-2A>T	6010	RHO	Pathogenic	1578281565	RCV000987332;	N	MONDO:MONDO:0013395,MedGen:C3151001,OMIM:613731, Orphanet:791	3	129252449	129252449	3:g.129252449A>T	-
NM_000539.3(RHO):c.937-2A>G	6010	RHO	Pathogenic	1578281565	RCV001591837;	N	MONDO:MONDO:0013395,MedGen:C3151001,OMIM:613731, Orphanet:791	3	129252449	129252449	129252449	-
NM_000539.3(RHO):c.953_955del (p.Leu318_Thr319delinsPro)	6010	RHO	Conflicting interpretations of pathogenicity	2084800683	RCV001265166\|RCV001296379;	N	MONDO:MONDO:0013395,MedGen:C3151001,OMIM:613731, Orphanet:791\|MedGen:CN517202	3	129252467	129252469	3:g.129252467_129252469del	-
NM_000539.3(RHO):c.977del (p.Asn326fs)	6010	RHO	Likely pathogenic	2084800900	RCV001265167;	N	MONDO:MONDO:0013395,MedGen:C3151001,OMIM:613731, Orphanet:791	3	129252490	129252490	3:g.129252490_129252490del	-
NM_000539.3(RHO):c.1030C>T (p.Gln344Ter)	6010	RHO	Pathogenic	104893778	RCV000013904\|RCV000760321;	N	MONDO:MONDO:0013395,MedGen:C3151001,OMIM:613731, Orphanet:791\|MedGen:CN517202	3	129252544	129252544	3:g.129252544C>T	ClinGen:CA256675,OMIM:180380.0015	C3151001 613731 Retinitis pigmentosa 4;
NM_000539.3(RHO):c.1033G>C (p.Val345Leu)	6010	RHO	Pathogenic	104893795	RCV000013927\|RCV001213632;	N	MONDO:MONDO:0013395,MedGen:C3151001,OMIM:613731, Orphanet:791\|MedGen:CN517202	3	129252547	129252547	3:g.129252547G>C	ClinGen:CA256693,UniProtKB:P08100#VAR_004831,OMIM:180380.0040	C3151001 613731 Retinitis pigmentosa 4;
NM_000539.3(RHO):c.1033G>A (p.Val345Met)	6010	RHO	Pathogenic/Likely pathogenic	104893795	RCV000013931\|RCV001045798;	N	MONDO:MONDO:0013395,MedGen:C3151001,OMIM:613731, Orphanet:791\|MedGen:CN517202	3	129252547	129252547	3:g.129252547G>A	ClinGen:CA256697,UniProtKB:P08100#VAR_004832,OMIM:180380.0044	C3151001 613731 Retinitis pigmentosa 4;
NM_000539.3(RHO):c.1034T>C (p.Val345Ala)	6010	RHO	Pathogenic/Likely pathogenic	1578281706	RCV000987333\|RCV001378537;	N	MONDO:MONDO:0013395,MedGen:C3151001,OMIM:613731, Orphanet:791\|MedGen:CN517202	3	129252548	129252548	3:g.129252548T>C	-
NM_000539.3(RHO):c.1040del (p.Pro347fs)	6010	RHO	Pathogenic	2084801618	RCV001265181;	N	MONDO:MONDO:0013395,MedGen:C3151001,OMIM:613731, Orphanet:791	3	129252551	129252551	3:g.129252551_129252551del	-
NM_000539.3(RHO):c.1039C>T (p.Pro347Ser)	6010	RHO	Pathogenic	29001637	RCV000013889;	N	MONDO:MONDO:0013395,MedGen:C3151001,OMIM:613731, Orphanet:791	3	129252553	129252553	3:g.129252553C>T	ClinGen:CA256663,UniProtKB:P08100#VAR_004837,OMIM:180380.0003	C3151001 613731 Retinitis pigmentosa 4;
NM_000539.3(RHO):c.1040C>T (p.Pro347Leu)	6010	RHO	Pathogenic/Likely pathogenic	29001566	RCV000013888\|RCV000490027\|RCV000504743\|RCV000626702\|RCV001075874;	N	MONDO:MONDO:0013395,MedGen:C3151001,OMIM:613731, Orphanet:791\|MedGen:C3661900\|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791\|Human Phenotype Ontology:HP:0000662,Human Phenotype	3	129252554	129252554	3:g.129252554C>T	ClinGen:CA256662,UniProtKB:P08100#VAR_004834,OMIM:180380.0002	C0344232 Blurred vision;
NM_000539.3(RHO):c.1040C>G (p.Pro347Arg)	6010	RHO	Pathogenic	29001566	RCV000013907\|RCV001382064\|RCV001003173;	N	MONDO:MONDO:0013395,MedGen:C3151001,OMIM:613731, Orphanet:791\|MedGen:CN517202\|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791	3	129252554	129252554	3:g.129252554C>G	ClinGen:CA256678,UniProtKB:P08100#VAR_004836,OMIM:180380.0020	C3151001 613731 Retinitis pigmentosa 4;
NM_000539.3(RHO):c.1040C>A (p.Pro347Gln)	6010	RHO	Pathogenic	29001566	RCV000013928\|RCV001851840;	N	MONDO:MONDO:0013395,MedGen:C3151001,OMIM:613731, Orphanet:791\|MedGen:CN517202	3	129252554	129252554	3:g.129252554C>A	OMIM:180380.0041,ClinGen:CA256694,UniProtKB:P08100#VAR_004835	C3151001 613731 Retinitis pigmentosa 4;

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