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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

Hearing Loss Disease Portal

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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Eye Diseases, Hereditary (D015785)
Parent Node: Retinal Dystrophies (D058499)
..Starting node ..Retinitis Pigmentosa (D012174)
Child Nodes:
........Aldred syndrome (C537046)
........Alstrom Syndrome (D056769)
........Amaurosis hypertrichosis (C536604)
........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 2 (OMIM:120970)
........Cone-Rod Dystrophy 3 (C565827)
........Cone-Rod Dystrophy 5 (C563415)
........Cone-Rod Dystrophy 7 (C566350)
........Cone-Rod Dystrophy 8 (C565322)
........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
........Leber Congenital Amaurosis 14 (C567636)
........Leber Congenital Amaurosis 3 (C565814)
........Light Fixation Seizure Syndrome (C566367)
........Mainzer-Saldino Disease (C535463)
........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 retinis pigmentosa (C537396)
........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 25 (C566425)
........Retinitis Pigmentosa 26 (C564249)
........Retinitis Pigmentosa 27 (C563526)
........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 4 (C566706)
........Retinitis Pigmentosa 41 (C567422)
........Retinitis Pigmentosa 42 (C567854)
........Retinitis Pigmentosa 46 (C567249)
........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 6 (C564065)
........Retinitis Pigmentosa 7 (C564284)
........Retinitis Pigmentosa 7 With Bull'S-Eye Maculopathy (C567264)
........Retinitis Pigmentosa 7, Digenic (C567263)
........Retinitis Pigmentosa 9 (C566716)
........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
Sister Nodes:
..Chorioretinal Dystrophy, Spinocerebellar Ataxia, and Hypogonadotropic Hypogonadism (C565850)
..CONE-ROD DYSTROPHY 15 (OMIM:613660)
..CONE-ROD DYSTROPHY 9 (OMIM:612775)
..CONE-ROD DYSTROPHY, X-LINKED, 1 (OMIM:304020)
..Ghose Sachdev Kumar syndrome (C537803)
..Patterned dystrophy of retinal pigment epithelium (C536309)
..Reticular Dystrophy Of Retinal Pigment Epithelium (C566721)
..Retinal Dystrophy, Early Onset Severe (C565741)
..Retinal Dystrophy, Reticular Pigmentary, of Posterior Pole (C564844)
..Retinitis Pigmentosa (D012174) 132
..Retinopathy, Pericentral Pigmentary, Dominant (C566713)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

9736

Name:

Retinitis Pigmentosa

Definition:

Hereditary, progressive degeneration of the neuroepithelium of the retina characterized by night blindness and progressive contraction of the visual field.

Alternative IDs:

OMIM:268000|OMIM:300155|OMIM:300424|OMIM:602594|OMIM:606068

ParentIDs:

MESH:D015785|MESH:D058499

TreeNumbers:

C11.270.684 |C11.768.585.658.500 |C16.320.290.684

Synonyms:

Slim Mappings:

Eye disease|Genetic disease (inborn)

Reference:

MedGen: D012174
MeSH: D012174
OMIM: 268000;

Genes: FAM161A; OFD1; RP22; RP24;

Phenotypes

1	HP:0001133	Constriction of peripheral visual field
2	HP:0000662	Nyctalopia
3	HP:0000510	Rod-cone dystrophy

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NM_001142564.1(CNGA1):c.1840G>A (p.Gly614Ser)	-1	-	Likely pathogenic	527236057	RCV000132619;	N	MedGen:C0035334,OMIM:268000,ORPHA:791,SNOMED CT:28835009	4	47938878	47938878	NM_001142564.1:c.1840G>A	NP_001136036.1:p.Gly614Ser	NC_000004.11:g.47938878C>T	-	C0035334 268000 Retinitis pigmentosa
NM_001142564.1(CNGA1):c.1196A>G (p.Asp399Gly)	-1	-	Likely pathogenic	527236059	RCV000132618;	N	MedGen:C0035334,OMIM:268000,ORPHA:791,SNOMED CT:28835009	4	47939522	47939522	NM_001142564.1:c.1196A>G	NP_001136036.1:p.Asp399Gly	NC_000004.11:g.47939522T>C	-	C0035334 268000 Retinitis pigmentosa
NM_001142564.1(CNGA1):c.1046G>A (p.Arg349His)	-1	-	Likely pathogenic	375412499	RCV000132617;	N	MedGen:C0035334,OMIM:268000,ORPHA:791,SNOMED CT:28835009	4	47939672	47939672	NM_001142564.1:c.1046G>A	NP_001136036.1:p.Arg349His	NC_000004.11:g.47939672C>T	-	C0035334 268000 Retinitis pigmentosa
NM_001142564.1(CNGA1):c.398delG (p.Gly133Valfs)	-1	-	Likely pathogenic	527236058	RCV000132620;	N	MedGen:C0035334,OMIM:268000,ORPHA:791,SNOMED CT:28835009	4	47953415	47953415	NM_001142564.1:c.398delG	NP_001136036.1:p.Gly133Valfs	NC_000004.11:g.47953415delC	-	C0035334 268000 Retinitis pigmentosa
NM_001077620.2(PRCD):c.2T>C (p.Met1Thr)	-1	-	Pathogenic	527236092	RCV000132616;	N	MedGen:C0035334,OMIM:268000,ORPHA:791,SNOMED CT:28835009	17	74536225	74536225	NM_001077620.2:c.2T>C	NP_001071088.1:p.Met1Thr	NC_000017.10:g.74536225T>C	-	C0035334 268000 Retinitis pigmentosa
NM_000350.2(ABCA4):c.2927delT (p.Leu976Argfs)	24	ABCA4	Pathogenic	863223338	RCV000201475;	N	MedGen:C0035334,OMIM:268000,ORPHA:791,SNOMED CT:28835009	1	94510292	94510292	NM_000350.2:c.2927delT	NP_000341.2:p.Leu976Argfs	NC_000001.10:g.94510292delA	-	C0035334 268000 Retinitis pigmentosa
NM_004183.3(BEST1):c.763C>T (p.Arg255Trp)	7439	BEST1	Pathogenic	372989281	RCV000132651;	N	MedGen:C0035334,OMIM:268000,ORPHA:791,SNOMED CT:28835009	11	61725666	61725666	NM_004183.3:c.763C>T	NP_004174.1:p.Arg255Trp	NC_000011.9:g.61725666C>T	-	C0035334 268000 Retinitis pigmentosa
NM_001029883.2(C2orf71):c.2988dupC (p.Thr997Hisfs)	388939	C2orf71	Likely pathogenic	527236056	RCV000132607;	N	MedGen:C0035334,OMIM:268000,ORPHA:791,SNOMED CT:28835009	2	29294140	29294140	NM_001029883.2:c.2988dupC	NP_001025054.1:p.Thr997Hisfs	NC_000002.11:g.29294140dupG	-	C0035334 268000 Retinitis pigmentosa
NM_001029883.2(C2orf71):c.2126delG (p.Gly709Glufs)	388939	C2orf71	Likely pathogenic	527236055	RCV000132606;	N	MedGen:C0035334,OMIM:268000,ORPHA:791,SNOMED CT:28835009	2	29295002	29295002	NM_001029883.2:c.2126delG	NP_001025054.1:p.Gly709Glufs	NC_000002.11:g.29295002delC	-	C0035334 268000 Retinitis pigmentosa
NM_001029883.2(C2orf71):c.712A>T (p.Lys238Ter)	388939	C2orf71	Pathogenic	863223344	RCV000201436;	N	MedGen:C0035334,OMIM:268000,ORPHA:791,SNOMED CT:28835009	2	29296416	29296416	NM_001029883.2:c.712A>T	NP_001025054.1:p.Lys238Ter	NC_000002.11:g.29296416T>A	-	C0035334 268000 Retinitis pigmentosa
NM_001297.4(CNGB1):c.2524dupA (p.Thr842Asnfs)	1258	CNGB1	Likely pathogenic	527236061	RCV000132647;	N	MedGen:C0035334,OMIM:268000,ORPHA:791,SNOMED CT:28835009	16	57938748	57938748	NM_001297.4:c.2524dupA	NP_001288.3:p.Thr842Asnfs	NC_000016.9:g.57938748dupT	-	C0035334 268000 Retinitis pigmentosa
NM_001297.4(CNGB1):c.217+5G>C	1258	CNGB1	Likely pathogenic	527236060	RCV000132646;	N	MedGen:C0035334,OMIM:268000,ORPHA:791,SNOMED CT:28835009	16	57998386	57998386	NM_001297.4:c.217+5G>C		NC_000016.9:g.57998386C>G	-	C0035334 268000 Retinitis pigmentosa
NM_001257965.1(CRB1):c.1252dupT (p.Ser418Phefs)	23418	CRB1	Pathogenic	863223342	RCV000201458;	N	MedGen:C0035334,OMIM:268000,ORPHA:791,SNOMED CT:28835009	1	197390417	197390417	NM_001257965.1:c.1252dupT	NP_001244894.1:p.Ser418Phefs	NC_000001.10:g.197390417dupT	-	C0035334 268000 Retinitis pigmentosa
NM_001257965.1(CRB1):c.2711G>A (p.Cys904Tyr)	23418	CRB1	Pathogenic	863223341	RCV000201433;	N	MedGen:C0035334,OMIM:268000,ORPHA:791,SNOMED CT:28835009	1	197398685	197398685	NM_001257965.1:c.2711G>A	NP_001244894.1:p.Cys904Tyr	NC_000001.10:g.197398685G>A	-	C0035334 268000 Retinitis pigmentosa
NM_000554.4(CRX):c.193G>C (p.Asp65His)	1406	CRX	Pathogenic	527236062	RCV000132604;	N	MedGen:C0035334,OMIM:268000,ORPHA:791,SNOMED CT:28835009	19	48339592	48339592	NM_000554.4:c.193G>C	NP_000545.1:p.Asp65His	NC_000019.9:g.48339592G>C	-	C0035334 268000 Retinitis pigmentosa
NM_000554.4(CRX):c.897G>C (p.Leu299Phe)	1406	CRX	Likely pathogenic	527236063	RCV000132605;	N	MedGen:C0035334,OMIM:268000,ORPHA:791,SNOMED CT:28835009	19	48343221	48343221	NM_000554.4:c.897G>C	NP_000545.1:p.Leu299Phe	NC_000019.9:g.48343221G>C	-	C0035334 268000 Retinitis pigmentosa
NM_001142800.1(EYS):c.9209T>C (p.Ile3070Thr)	346007	EYS	Pathogenic	183589498	RCV000132637;	N	MedGen:C0035334,OMIM:268000,ORPHA:791,SNOMED CT:28835009	6	64430718	64430718	NM_001142800.1:c.9209T>C	NP_001136272.1:p.Ile3070Thr	NC_000006.11:g.64430718A>G	-	C0035334 268000 Retinitis pigmentosa
NM_001142800.1(EYS):c.8805C>A (p.Tyr2935Ter)	346007	EYS	Pathogenic	527236067	RCV000132636;	N	MedGen:C0035334,OMIM:268000,ORPHA:791,SNOMED CT:28835009	6	64431122	64431122	NM_001142800.1:c.8805C>A	NP_001136272.1:p.Tyr2935Ter	NC_000006.11:g.64431122G>T	-	C0035334 268000 Retinitis pigmentosa
NM_001142800.1(EYS):c.8379_8380insTGCA (p.Glu2794Cysfs)	346007	EYS	Likely pathogenic	527236070	RCV000132635;	N	MedGen:C0035334,OMIM:268000,ORPHA:791,SNOMED CT:28835009	6	64431547	64431548	NM_001142800.1:c.8379_8380insTGCA	NP_001136272.1:p.Glu2794Cysfs	NC_000006.11:g.64431547_64431548insTGCA	-	C0035334 268000 Retinitis pigmentosa
NM_001142800.1(EYS):c.8012T>A (p.Leu2671Ter)	346007	EYS	Likely pathogenic	527236076	RCV000132634;	N	MedGen:C0035334,OMIM:268000,ORPHA:791,SNOMED CT:28835009	6	64472413	64472413	NM_001142800.1:c.8012T>A	NP_001136272.1:p.Leu2671Ter	NC_000006.11:g.64472413A>T	-	C0035334 268000 Retinitis pigmentosa
NM_001142800.1(EYS):c.7919G>A (p.Trp2640Ter)	346007	EYS	Pathogenic	527236066	RCV000132633;	N	MedGen:C0035334,OMIM:268000,ORPHA:791,SNOMED CT:28835009	6	64472506	64472506	NM_001142800.1:c.7919G>A	NP_001136272.1:p.Trp2640Ter	NC_000006.11:g.64472506C>T	-	C0035334 268000 Retinitis pigmentosa
NM_001142800.1(EYS):c.7793G>A (p.Gly2598Asp)	346007	EYS	Pathogenic	527236064	RCV000132632;	N	MedGen:C0035334,OMIM:268000,ORPHA:791,SNOMED CT:28835009	6	64488004	64488004	NM_001142800.1:c.7793G>A	NP_001136272.1:p.Gly2598Asp	NC_000006.11:g.64488004C>T	-	C0035334 268000 Retinitis pigmentosa
NM_001142800.1(EYS):c.7694delA (p.Asn2565Metfs)	346007	EYS	Likely pathogenic	527236078	RCV000132631;	N	MedGen:C0035334,OMIM:268000,ORPHA:791,SNOMED CT:28835009	6	64498027	64498027	NM_001142800.1:c.7694delA	NP_001136272.1:p.Asn2565Metfs	NC_000006.11:g.64498027delT	-	C0035334 268000 Retinitis pigmentosa
NM_001142800.1(EYS):c.7048delT (p.Cys2350Alafs)	346007	EYS	Likely pathogenic	527236069	RCV000132630;	N	MedGen:C0035334,OMIM:268000,ORPHA:791,SNOMED CT:28835009	6	64694283	64694283	NM_001142800.1:c.7048delT	NP_001136272.1:p.Cys2350Alafs	NC_000006.11:g.64694283delA	-	C0035334 268000 Retinitis pigmentosa
NM_001142800.1(EYS):c.6557G>A (p.Gly2186Glu)	346007	EYS	Pathogenic	527236068	RCV000132629;	N	MedGen:C0035334,OMIM:268000,ORPHA:791,SNOMED CT:28835009	6	64791763	64791763	NM_001142800.1:c.6557G>A	NP_001136272.1:p.Gly2186Glu	NC_000006.11:g.64791763C>T	-	C0035334 268000 Retinitis pigmentosa
NM_001142800.1(EYS):c.5202_5203delGT (p.Phe1735Glnfs)	346007	EYS	Likely pathogenic	527236071	RCV000132628;	N	MedGen:C0035334,OMIM:268000,ORPHA:791,SNOMED CT:28835009	6	65300557	65300558	NM_001142800.1:c.5202_5203delGT	NP_001136272.1:p.Phe1735Glnfs	NC_000006.11:g.65300557_65300558delAC	-	C0035334 268000 Retinitis pigmentosa
NM_001142800.1(EYS):c.5014C>T (p.Gln1672Ter)	346007	EYS	Likely pathogenic	527236074	RCV000132627;	N	MedGen:C0035334,OMIM:268000,ORPHA:791,SNOMED CT:28835009	6	65300746	65300746	NM_001142800.1:c.5014C>T	NP_001136272.1:p.Gln1672Ter	NC_000006.11:g.65300746G>A	-	C0035334 268000 Retinitis pigmentosa
NM_001142800.1(EYS):c.4957dupA (p.Ser1653Lysfs)	346007	EYS	Pathogenic	527236065	RCV000132626;	N	MedGen:C0035334,OMIM:268000,ORPHA:791,SNOMED CT:28835009	6	65300803	65300803	NM_001142800.1:c.4957dupA	NP_001136272.1:p.Ser1653Lysfs	NC_000006.11:g.65300803dupT	-	C0035334 268000 Retinitis pigmentosa
NM_001142800.1(EYS):c.4402_4403insTCAAGAGG (p.Asp1468Valfs)	346007	EYS	Likely pathogenic	527236073	RCV000132625;	N	MedGen:C0035334,OMIM:268000,ORPHA:791,SNOMED CT:28835009	6	65301357	65301358	NM_001142800.1:c.4402_4403insTCAAGAGG	NP_001136272.1:p.Asp1468Valfs	NC_000006.11:g.65301357_65301358insCCTCTTGA	-	C0035334 268000 Retinitis pigmentosa
NM_001142800.1(EYS):c.4387delA (p.Arg1463Glyfs)	346007	EYS	Likely pathogenic	527236075	RCV000132624;	N	MedGen:C0035334,OMIM:268000,ORPHA:791,SNOMED CT:28835009	6	65301373	65301373	NM_001142800.1:c.4387delA	NP_001136272.1:p.Arg1463Glyfs	NC_000006.11:g.65301373delT	-	C0035334 268000 Retinitis pigmentosa
NM_001142800.1(EYS):c.1750G>T (p.Glu584Ter)	346007	EYS	Likely pathogenic	527236072	RCV000132622;	N	MedGen:C0035334,OMIM:268000,ORPHA:791,SNOMED CT:28835009	6	66044889	66044889	NM_001142800.1:c.1750G>T	NP_001136272.1:p.Glu584Ter	NC_000006.11:g.66044889C>A	-	C0035334 268000 Retinitis pigmentosa
NM_001142800.1(EYS):c.1345A>T (p.Lys449Ter)	346007	EYS	Likely pathogenic	527236077	RCV000132621;	N	MedGen:C0035334,OMIM:268000,ORPHA:791,SNOMED CT:28835009	6	66063465	66063465	NM_001142800.1:c.1345A>T	NP_001136272.1:p.Lys449Ter	NC_000006.11:g.66063465T>A	-	C0035334 268000 Retinitis pigmentosa
NM_014714.3(IFT140):c.3827G>A (p.Gly1276Glu)	9742	IFT140	Pathogenic	779007169	RCV000201484;	N	MedGen:C0035334,OMIM:268000,ORPHA:791,SNOMED CT:28835009	16	1570178	1570178	NM_014714.3:c.3827G>A	NP_055529.2:p.Gly1276Glu	NC_000016.9:g.1570178C>T	-	C0035334 268000 Retinitis pigmentosa
NM_016247.3(IMPG2):c.3262C>T (p.Arg1088Ter)	50939	IMPG2	Pathogenic	199867882	RCV000132676;	N	MedGen:C0035334,OMIM:268000,ORPHA:791,SNOMED CT:28835009	3	100949961	100949961	NM_016247.3:c.3262C>T	NP_057331.2:p.Arg1088Ter	NC_000003.11:g.100949961G>A	-	C0035334 268000 Retinitis pigmentosa
NM_004744.4(LRAT):c.163C>T (p.Arg55Trp)	9227	LRAT	Likely pathogenic	527236079	RCV000132653;	N	MedGen:C0035334,OMIM:268000,ORPHA:791,SNOMED CT:28835009	4	155665641	155665641	NM_004744.4:c.163C>T	NP_004735.2:p.Arg55Trp	NC_000004.11:g.155665641C>T	-	C0035334 268000 Retinitis pigmentosa
NM_001242385.1(MAK):c.553G>A (p.Ala185Thr)	4117	MAK	Likely pathogenic	527236080	RCV000132645;	N	MedGen:C0035334,OMIM:268000,ORPHA:791,SNOMED CT:28835009	6	10804063	10804063	NM_001242385.1:c.553G>A	NP_001229314.1:p.Ala185Thr	NC_000006.11:g.10804063C>T	-	C0035334 268000 Retinitis pigmentosa
NM_001242385.1(MAK):c.496C>T (p.Arg166Cys)	4117	MAK	Likely pathogenic	527236081	RCV000132644;	N	MedGen:C0035334,OMIM:268000,ORPHA:791,SNOMED CT:28835009	6	10804120	10804120	NM_001242385.1:c.496C>T	NP_001229314.1:p.Arg166Cys	NC_000006.11:g.10804120G>A	-	C0035334 268000 Retinitis pigmentosa
NM_001242385.1(MAK):c.340dupG (p.Ala114Glyfs)	4117	MAK	Likely pathogenic	527236082	RCV000132643;	N	MedGen:C0035334,OMIM:268000,ORPHA:791,SNOMED CT:28835009	6	10813895	10813895	NM_001242385.1:c.340dupG	NP_001229314.1:p.Ala114Glyfs	NC_000006.11:g.10813895dupC	-	C0035334 268000 Retinitis pigmentosa
NM_006343.2(MERTK):c.225delA (p.Gly76Glufs)	10461	MERTK	Likely pathogenic	527236083	RCV000132664;	N	MedGen:C0035334,OMIM:268000,ORPHA:791,SNOMED CT:28835009	2	112686860	112686860	NM_006343.2:c.225delA	NP_006334.2:p.Gly76Glufs	NC_000002.11:g.112686860delA	-	C0035334 268000 Retinitis pigmentosa
NM_006343.2(MERTK):c.1450G>A (p.Gly484Ser)	10461	MERTK	Likely pathogenic	527236084	RCV000132663;	N	MedGen:C0035334,OMIM:268000,ORPHA:791,SNOMED CT:28835009	2	112751981	112751981	NM_006343.2:c.1450G>A	NP_006334.2:p.Gly484Ser	NC_000002.11:g.112751981G>A	-	C0035334 268000 Retinitis pigmentosa
NM_000260.3(MYO7A):c.1667G>T (p.Gly556Val)	4647	MYO7A	Likely pathogenic	527236085	RCV000132570;	N	MedGen:C0035334,OMIM:268000,ORPHA:791,SNOMED CT:28835009	11	76874011	76874011	NM_000260.3:c.1667G>T	NP_000251.3:p.Gly556Val	NC_000011.9:g.76874011G>T	-	C0035334 268000 Retinitis pigmentosa
NM_014249.3(NR2E3):c.364C>T (p.Arg122Cys)	10002	NR2E3	Likely pathogenic	527236086	RCV000132672;	N	MedGen:C0035334,OMIM:268000,ORPHA:791,SNOMED CT:28835009	15	72104309	72104309	NM_014249.3:c.364C>T	NP_055064.1:p.Arg122Cys	NC_000015.9:g.72104309C>T	-	C0035334 268000 Retinitis pigmentosa
NM_006177.3(NRL):c.23delT (p.Leu8Argfs)	4901	NRL	Likely pathogenic	527236087	RCV000132657;	N	MedGen:C0035334,OMIM:268000,ORPHA:791,SNOMED CT:28835009	14	24552035	24552035	NM_006177.3:c.23delT	NP_006168.1:p.Leu8Argfs	NC_000014.8:g.24552035delA	-	C0035334 268000 Retinitis pigmentosa
NM_024960.5(PANK2):c.419T>C (p.Phe140Ser)	80025	PANK2	Pathogenic	863223343	RCV000201489;	N	MedGen:C0035334,OMIM:268000,ORPHA:791,SNOMED CT:28835009	20	3893161	3893161	NM_024960.5:c.419T>C	NP_079236.3:p.Phe140Ser	NC_000020.10:g.3893161T>C	-	C0035334 268000 Retinitis pigmentosa
NM_000283.3(PDE6B):c.993-1G>C	5158	PDE6B	Likely pathogenic	527236090	RCV000132577;	N	MedGen:C0035334,OMIM:268000,ORPHA:791,SNOMED CT:28835009	4	649728	649728	NM_000283.3:c.993-1G>C		NC_000004.11:g.649728G>C	-	C0035334 268000 Retinitis pigmentosa
NM_000283.3(PDE6B):c.1060-1G>T	5158	PDE6B	Pathogenic	863223339	RCV000201503;	N	MedGen:C0035334,OMIM:268000,ORPHA:791,SNOMED CT:28835009	4	650033	650033	NM_000283.3:c.1060-1G>T		NC_000004.11:g.650033G>T	-	C0035334 268000 Retinitis pigmentosa
NM_000283.3(PDE6B):c.1467+1G>C	5158	PDE6B	Pathogenic	527236089	RCV000132573;	N	MedGen:C0035334,OMIM:268000,ORPHA:791,SNOMED CT:28835009	4	652807	652807	NM_000283.3:c.1467+1G>C		NC_000004.11:g.652807G>C	-	C0035334 268000 Retinitis pigmentosa
NM_000283.3(PDE6B):c.1576G>A (p.Glu526Lys)	5158	PDE6B	Likely pathogenic	527236091	RCV000132574;	N	MedGen:C0035334,OMIM:268000,ORPHA:791,SNOMED CT:28835009	4	654364	654364	NM_000283.3:c.1576G>A	NP_000274.2:p.Glu526Lys	NC_000004.11:g.654364G>A	-	C0035334 268000 Retinitis pigmentosa
NM_000283.3(PDE6B):c.1604T>A (p.Ile535Asn)	5158	PDE6B	Pathogenic	527236088	RCV000132575;	N	MedGen:C0035334,OMIM:268000,ORPHA:791,SNOMED CT:28835009	4	654392	654392	NM_000283.3:c.1604T>A	NP_000274.2:p.Ile535Asn	NC_000004.11:g.654392T>A	-	C0035334 268000 Retinitis pigmentosa
NM_000283.3(PDE6B):c.1669C>T (p.His557Tyr)	5158	PDE6B	Pathogenic	121918581	RCV000013985; RCV000132576;	N	MedGen:C0035334,OMIM:268000,ORPHA:791,SNOMED CT:28835009; MedGen:C3151107,OMIM:613801	4	655977	655977	NM_000283.3:c.1669C>T	NP_000274.2:p.His557Tyr	NC_000004.11:g.655977C>T	OMIM Allelic Variant:180072.0004	C0035334 268000 Retinitis pigmentosa; C3151107 613801 Retinitis pigmentosa 40
NM_015629.3(PRPF31):c.562G>T (p.Glu188Ter)	26121	PRPF31	Likely pathogenic	527236094	RCV000132673;	N	MedGen:C0035334,OMIM:268000,ORPHA:791,SNOMED CT:28835009	19	54627162	54627162	NM_015629.3:c.562G>T	NP_056444.3:p.Glu188Ter	NC_000019.9:g.54627162G>T	-	C0035334 268000 Retinitis pigmentosa
NM_015629.3(PRPF31):c.615C>G (p.Tyr205Ter)	26121	PRPF31	Likely pathogenic	144738703	RCV000132674;	N	MedGen:C0035334,OMIM:268000,ORPHA:791,SNOMED CT:28835009	19	54627215	54627215	NM_015629.3:c.615C>G	NP_056444.3:p.Tyr205Ter	NC_000019.9:g.54627215C>A,NC_000019.9:g.54627215C>G	-	C0035334 268000 Retinitis pigmentosa
NM_015629.3(PRPF31):c.764A>T (p.Gln255Leu)	26121	PRPF31	Likely pathogenic	527236095	RCV000132675;	N	MedGen:C0035334,OMIM:268000,ORPHA:791,SNOMED CT:28835009	19	54627944	54627944	NM_015629.3:c.764A>T	NP_056444.3:p.Gln255Leu	NC_000019.9:g.54627944A>T	-	C0035334 268000 Retinitis pigmentosa
NM_012469.3(PRPF6):c.550G>C (p.Asp184His)	24148	PRPF6	Likely pathogenic	527236096	RCV000132667;	N	MedGen:C0035334,OMIM:268000,ORPHA:791,SNOMED CT:28835009	20	62626380	62626380	NM_012469.3:c.550G>C	NP_036601.2:p.Asp184His	NC_000020.10:g.62626380G>C	-	C0035334 268000 Retinitis pigmentosa
NM_000322.4(PRPH2):c.736T>C (p.Trp246Arg)	5961	PRPH2	Pathogenic	61755817	RCV000132580; RCV000085019;	N	MedGen:C0035334,OMIM:268000,ORPHA:791,SNOMED CT:28835009; MedGen:CN221809	6	42672195	42672195	NM_000322.4:c.736T>C	NP_000313.2:p.Trp246Arg	NC_000006.11:g.42672195A>G	-	CN221809 not provided; C0035334 268000 Retinitis pigmentosa
NM_000322.4(PRPH2):c.499G>A (p.Gly167Ser)	5961	PRPH2	Pathogenic	527236098	RCV000132579;	N	MedGen:C0035334,OMIM:268000,ORPHA:791,SNOMED CT:28835009	6	42689574	42689574	NM_000322.4:c.499G>A	NP_000313.2:p.Gly167Ser	NC_000006.11:g.42689574C>T	-	C0035334 268000 Retinitis pigmentosa
NM_000322.4(PRPH2):c.410G>A (p.Gly137Asp)	5961	PRPH2	Pathogenic	527236097	RCV000132578;	N	MedGen:C0035334,OMIM:268000,ORPHA:791,SNOMED CT:28835009	6	42689663	42689663	NM_000322.4:c.410G>A	NP_000313.2:p.Gly137Asp	NC_000006.11:g.42689663C>T	-	C0035334 268000 Retinitis pigmentosa
NM_152443.2(RDH12):c.377C>T (p.Ala126Val)	145226	RDH12	Pathogenic	202126574	RCV000002142; RCV000132691;	N	MedGen:C0035334,OMIM:268000,ORPHA:791,SNOMED CT:28835009; MedGen:C3150208	14	68192801	68192801	NM_152443.2:c.377C>T	NP_689656.2:p.Ala126Val	NC_000014.8:g.68192801C>T	OMIM Allelic Variant:608830.0016	C0035334 268000 Retinitis pigmentosa; C3150208 Retinitis pigmentosa 53
NM_152443.2(RDH12):c.776delG (p.Glu260Argfs)	145226	RDH12	Pathogenic	527236099	RCV000132692;	N	MedGen:C0035334,OMIM:268000,ORPHA:791,SNOMED CT:28835009	14	68196025	68196025	NM_152443.2:c.776delG	NP_689656.2:p.Glu260Argfs	NC_000014.8:g.68196025delG	-	C0035334 268000 Retinitis pigmentosa
NM_000539.3(RHO):c.44A>G (p.Asn15Ser)	6010	RHO	Pathogenic	104893786	RCV000013917; RCV000132598;	N	MedGen:C0035334,OMIM:268000,ORPHA:791,SNOMED CT:28835009; MedGen:C3151001,OMIM:613731	3	129247620	129247620	NM_000539.3:c.44A>G	NP_000530.1:p.Asn15Ser	NC_000003.11:g.129247620A>G	OMIM Allelic Variant:180380.0029	C0035334 268000 Retinitis pigmentosa; C3151001 613731 Retinitis pigmentosa 4
NM_000539.3(RHO):c.180C>A (p.Tyr60Ter)	6010	RHO	Likely pathogenic	527236101	RCV000132596;	N	MedGen:C0035334,OMIM:268000,ORPHA:791,SNOMED CT:28835009	3	129247756	129247756	NM_000539.3:c.180C>A	NP_000530.1:p.Tyr60Ter	NC_000003.11:g.129247756C>A	-	C0035334 268000 Retinitis pigmentosa
NM_000539.3(RHO):c.217_219delAAC (p.Asn73del)	6010	RHO	not provided	398122525	RCV000076919;	N	MedGen:C0035334,OMIM:268000,ORPHA:791,SNOMED CT:28835009	3	129247793	129247795	NM_000539.3:c.217_219delAAC	NP_000530.1:p.Asn73del	NC_000003.11:g.129247793_129247795delAAC	-	C0035334 268000 Retinitis pigmentosa
NM_000539.3(RHO):c.403C>T (p.Arg135Trp)	6010	RHO	Pathogenic	104893775	RCV000013902; RCV000013903; RCV000132597;	N	MedGen:C0035334,OMIM:268000,ORPHA:791,SNOMED CT:28835009; MedGen:C1405854; MedGen:C3151001,OMIM:613731	3	129249760	129249760	NM_000539.3:c.403C>T	NP_000530.1:p.Arg135Trp	NC_000003.11:g.129249760C>T	OMIM Allelic Variant:180380.0012	C0035334 268000 Retinitis pigmentosa; C3151001 613731 Retinitis pigmentosa 4; C1405854 Retinitis punctata albescens
NM_000539.3(RHO):c.520G>A (p.Gly174Ser)	6010	RHO	Pathogenic	527236103	RCV000132599;	N	MedGen:C0035334,OMIM:268000,ORPHA:791,SNOMED CT:28835009	3	129249877	129249877	NM_000539.3:c.520G>A	NP_000530.1:p.Gly174Ser	NC_000003.11:g.129249877G>A	-	C0035334 268000 Retinitis pigmentosa
NM_000539.3(RHO):c.562G>A (p.Gly188Arg)	6010	RHO	Pathogenic	527236100	RCV000132600;	N	MedGen:C0035334,OMIM:268000,ORPHA:791,SNOMED CT:28835009	3	129251125	129251125	NM_000539.3:c.562G>A	NP_000530.1:p.Gly188Arg	NC_000003.11:g.129251125G>A	-	C0035334 268000 Retinitis pigmentosa
NM_000539.3(RHO):c.977_980delACCC (p.Pro327Trpfs)	6010	RHO	Likely pathogenic	527236102	RCV000132602;	N	MedGen:C0035334,OMIM:268000,ORPHA:791,SNOMED CT:28835009	3	129252491	129252494	NM_000539.3:c.977_980delACCC	NP_000530.1:p.Pro327Trpfs	NC_000003.11:g.129252491_129252494delACCC	-	C0035334 268000 Retinitis pigmentosa
NM_000327.3(ROM1):c.331dupG (p.Leu114Alafs)	6094	ROM1	Pathogenic	527236104	RCV000132581;	N	MedGen:C0035334,OMIM:268000,ORPHA:791,SNOMED CT:28835009	11	62381084	62381084	NM_000327.3:c.331dupG	NP_000318.1:p.Leu114Alafs	NC_000011.9:g.62381084dupG	-	C0035334 268000 Retinitis pigmentosa
NM_006269.1(RP1):c.649delG (p.Gly217Glufs)	6101	RP1	Likely pathogenic	527236105	RCV000132662;	N	MedGen:C0035334,OMIM:268000,ORPHA:791,SNOMED CT:28835009	8	55534710	55534710	NM_006269.1:c.649delG	NP_006260.1:p.Gly217Glufs	NC_000008.10:g.55534710delG	-	C0035334 268000 Retinitis pigmentosa
NM_006269.1(RP1):c.679T>G (p.Phe227Val)	6101	RP1	Pathogenic	863223340	RCV000201456;	N	MedGen:C0035334,OMIM:268000,ORPHA:791,SNOMED CT:28835009	8	55534740	55534740	NM_006269.1:c.679T>G	NP_006260.1:p.Phe227Val	NC_000008.10:g.55534740T>G	-	C0035334 268000 Retinitis pigmentosa
NM_006269.1(RP1):c.1186C>T (p.Arg396Ter)	6101	RP1	Likely pathogenic	201493928	RCV000132658;	N	MedGen:C0035334,OMIM:268000,ORPHA:791,SNOMED CT:28835009	8	55537628	55537628	NM_006269.1:c.1186C>T	NP_006260.1:p.Arg396Ter	NC_000008.10:g.55537628C>T	-	C0035334 268000 Retinitis pigmentosa
NM_006269.1(RP1):c.4876G>A (p.Gly1626Arg)	6101	RP1	Likely pathogenic	527236106	RCV000132659;	N	MedGen:C0035334,OMIM:268000,ORPHA:791,SNOMED CT:28835009	8	55541318	55541318	NM_006269.1:c.4876G>A	NP_006260.1:p.Gly1626Arg	NC_000008.10:g.55541318G>A	-	C0035334 268000 Retinitis pigmentosa
NM_006269.1(RP1):c.5797C>T (p.Arg1933Ter)	6101	RP1	Likely pathogenic	118031911	RCV000132661;	N	MedGen:C0035334,OMIM:268000,ORPHA:791,SNOMED CT:28835009	8	55542239	55542239	NM_006269.1:c.5797C>T	NP_006260.1:p.Arg1933Ter	NC_000008.10:g.55542239C>T	-	C0035334 268000 Retinitis pigmentosa
NM_178857.5(RP1L1):c.1972C>T (p.Arg658Ter)	94137	RP1L1	Likely pathogenic	527236107	RCV000132695;	N	MedGen:C0035334,OMIM:268000,ORPHA:791,SNOMED CT:28835009	8	10469636	10469636	NM_178857.5:c.1972C>T	NP_849188.4:p.Arg658Ter	NC_000008.10:g.10469636G>A	-	C0035334 268000 Retinitis pigmentosa
NM_178857.5(RP1L1):c.235C>T (p.Arg79Cys)	94137	RP1L1	Likely pathogenic	377269054	RCV000132696;	N	MedGen:C0035334,OMIM:268000,ORPHA:791,SNOMED CT:28835009	8	10480477	10480477	NM_178857.5:c.235C>T	NP_849188.4:p.Arg79Cys	NC_000008.10:g.10480477G>A	-	C0035334 268000 Retinitis pigmentosa
NM_000329.2(RPE65):c.1543C>T (p.Arg515Trp)	6121	RPE65	Pathogenic	121917745	RCV000014000; RCV000013999; RCV000132583; RCV000085176;	N	MedGen:C0035334,OMIM:268000,ORPHA:791,SNOMED CT:28835009; MedGen:C1859844,OMIM:204100; MedGen:C3151086,OMIM:613794; MedGen:CN221809	1	68895518	68895518	NM_000329.2:c.1543C>T	NP_000320.1:p.Arg515Trp	NC_000001.10:g.68895518G>A	OMIM Allelic Variant:180069.0008	C1859844 204100 Leber congenital amaurosis 2; CN221809 not provided; C0035334 268000 Retinitis pigmentosa; C3151086 613794 Retinitis pigmentosa 20
NM_000329.2(RPE65):c.118G>A (p.Gly40Ser)	6121	RPE65	Pathogenic	61751281	RCV000132582; RCV000085155;	N	MedGen:C0035334,OMIM:268000,ORPHA:791,SNOMED CT:28835009; MedGen:CN221809	1	68912520	68912520	NM_000329.2:c.118G>A	NP_000320.1:p.Gly40Ser	NC_000001.10:g.68912520C>T	-	CN221809 not provided; C0035334 268000 Retinitis pigmentosa
NM_001034853.1(RPGR):c.2426_2427delAG (p.Glu809Glyfs)	6103	RPGR	Pathogenic	730882261	RCV000162095;	N	MedGen:C0035334,OMIM:268000,ORPHA:791,SNOMED CT:28835009	X	38145825	38145826	NM_001034853.1:c.2426_2427delAG	NP_001030025.1:p.Glu809Glyfs	NC_000023.10:g.38145825_38145826delCT	-	C0035334 268000 Retinitis pigmentosa
NM_001034853.1(RPGR):c.1981G>T (p.Glu661Ter)	6103	RPGR	Likely pathogenic	527236108	RCV000132609;	N	MedGen:C0035334,OMIM:268000,ORPHA:791,SNOMED CT:28835009	X	38146271	38146271	NM_001034853.1:c.1981G>T	NP_001030025.1:p.Glu661Ter	NC_000023.10:g.38146271C>A	-	C0035334 268000 Retinitis pigmentosa
NM_001034853.1(RPGR):c.1087_1088insGTAG (p.Val363Glyfs)	6103	RPGR	Likely pathogenic	527236109	RCV000132608;	N	MedGen:C0035334,OMIM:268000,ORPHA:791,SNOMED CT:28835009	X	38158366	38158367	NM_001034853.1:c.1087_1088insGTAG	NP_001030025.1:p.Val363Glyfs	NC_000023.10:g.38158366_38158367insCTAC	-	C0035334 268000 Retinitis pigmentosa
NM_001034853.1(RPGR):c.922G>C (p.Ala308Pro)	6103	RPGR	Likely pathogenic	527236112	RCV000132614;	N	MedGen:C0035334,OMIM:268000,ORPHA:791,SNOMED CT:28835009	X	38163900	38163900	NM_001034853.1:c.922G>C	NP_001030025.1:p.Ala308Pro	NC_000023.10:g.38163900C>G	-	C0035334 268000 Retinitis pigmentosa
NM_000328.2(RPGR):c.894_895delTT (p.Ser298Argfs)	6103	RPGR	Likely pathogenic	527236111	RCV000132613;	N	MedGen:C0035334,OMIM:268000,ORPHA:791,SNOMED CT:28835009	X	38163927	38163928	NM_000328.2:c.894_895delTT	NP_000319.1:p.Ser298Argfs	NC_000023.10:g.38163927_38163928delAA	-	C0035334 268000 Retinitis pigmentosa
NM_000328.2(RPGR):c.469+1G>A	6103	RPGR	Likely pathogenic	62638646	RCV000132611; RCV000085107;	N	MedGen:C0035334,OMIM:268000,ORPHA:791,SNOMED CT:28835009; MedGen:CN221809	X	38178081	38178081	NM_000328.2:c.469+1G>A		NC_000023.10:g.38178081C>T	-	CN221809 not provided; C0035334 268000 Retinitis pigmentosa
NM_014014.4(SNRNP200):c.2047G>T (p.Val683Leu)	23020	SNRNP200	Pathogenic	527236114	RCV000132670;	N	MedGen:C0035334,OMIM:268000,ORPHA:791,SNOMED CT:28835009	2	96958823	96958823	NM_014014.4:c.2047G>T	NP_054733.2:p.Val683Leu	NC_000002.11:g.96958823C>A	-	C0035334 268000 Retinitis pigmentosa
NM_014014.4(SNRNP200):c.2042G>A (p.Arg681His)	23020	SNRNP200	Pathogenic	527236113	RCV000132669;	N	MedGen:C0035334,OMIM:268000,ORPHA:791,SNOMED CT:28835009	2	96958828	96958828	NM_014014.4:c.2042G>A	NP_054733.2:p.Arg681His	NC_000002.11:g.96958828C>T	-	C0035334 268000 Retinitis pigmentosa
NM_014014.4(SNRNP200):c.1871G>A (p.Arg624Lys)	23020	SNRNP200	Likely pathogenic	527236115	RCV000132668;	N	MedGen:C0035334,OMIM:268000,ORPHA:791,SNOMED CT:28835009	2	96959219	96959219	NM_014014.4:c.1871G>A	NP_054733.2:p.Arg624Lys	NC_000002.11:g.96959219C>T	-	C0035334 268000 Retinitis pigmentosa
NM_005802.4(TOPORS):c.2554_2557delGAGA (p.Glu852Glnfs)	10210	TOPORS	Pathogenic	527236116	RCV000132654;	N	MedGen:C0035334,OMIM:268000,ORPHA:791,SNOMED CT:28835009	9	32541966	32541969	NM_005802.4:c.2554_2557delGAGA	NP_005793.2:p.Glu852Glnfs	NC_000009.11:g.32541966_32541969delTCTC	-	C0035334 268000 Retinitis pigmentosa
NM_003322.4(TULP1):c.1145T>C (p.Phe382Ser)	7287	TULP1	Pathogenic	121909076	RCV000007787; RCV000132649;	N	MedGen:C0035334,OMIM:268000,ORPHA:791,SNOMED CT:28835009; MedGen:C1838603,OMIM:600132	6	35471593	35471593	NM_003322.4:c.1145T>C	NP_003313.3:p.Phe382Ser	NC_000006.11:g.35471593A>G	OMIM Allelic Variant:602280.0006	C0035334 268000 Retinitis pigmentosa; C1838603 600132 Retinitis pigmentosa 14
NM_003322.4(TULP1):c.349G>A (p.Glu117Lys)	7287	TULP1	Likely pathogenic	527236117	RCV000132650;	N	MedGen:C0035334,OMIM:268000,ORPHA:791,SNOMED CT:28835009	6	35479425	35479425	NM_003322.4:c.349G>A	NP_003313.3:p.Glu117Lys	NC_000006.11:g.35479425C>T	-	C0035334 268000 Retinitis pigmentosa
NM_206933.2(USH2A):c.15233C>G (p.Pro5078Arg)	7399	USH2A	Pathogenic	527236122	RCV000132708;	N	MedGen:C0035334,OMIM:268000,ORPHA:791,SNOMED CT:28835009	1	215807865	215807865	NM_206933.2:c.15233C>G	NP_996816.2:p.Pro5078Arg	NC_000001.10:g.215807865G>C	-	C0035334 268000 Retinitis pigmentosa
NM_206933.2(USH2A):c.14450G>A (p.Gly4817Glu)	7399	USH2A	Likely pathogenic	527236125	RCV000132707;	N	MedGen:C0035334,OMIM:268000,ORPHA:791,SNOMED CT:28835009	1	215822002	215822002	NM_206933.2:c.14450G>A	NP_996816.2:p.Gly4817Glu	NC_000001.10:g.215822002C>T	-	C0035334 268000 Retinitis pigmentosa
NM_206933.2(USH2A):c.14243C>T (p.Ser4748Phe)	7399	USH2A	Likely pathogenic;Uncertain significance	527236126	RCV000132706; RCV000144482;	N	MedGen:C0035334,OMIM:268000,ORPHA:791,SNOMED CT:28835009; MedGen:C0339527, Orphanet:ORPHA65,SNOMED CT:193413001	1	215824034	215824034	NM_206933.2:c.14243C>T	NP_996816.2:p.Ser4748Phe	NC_000001.10:g.215824034G>A	-	C0339527 Leber's amaurosis; C0035334 268000 Retinitis pigmentosa
NM_206933.2(USH2A):c.14020A>G (p.Arg4674Gly)	7399	USH2A	Pathogenic	80338904	RCV000002458; RCV000032522;	N	MedGen:C0035334,OMIM:268000,ORPHA:791,SNOMED CT:28835009; MedGen:C3151138,OMIM:613809	1	215844427	215844427	NM_206933.2:c.14020A>G	NP_996816.2:p.Arg4674Gly	NC_000001.10:g.215844427T>C	OMIM Allelic Variant:608400.0012	C0035334 268000 Retinitis pigmentosa; C3151138 613809 Retinitis pigmentosa 39
NM_206933.2(USH2A):c.13847G>T (p.Gly4616Val)	7399	USH2A	Likely pathogenic	527236124	RCV000132705;	N	MedGen:C0035334,OMIM:268000,ORPHA:791,SNOMED CT:28835009	1	215844600	215844600	NM_206933.2:c.13847G>T	NP_996816.2:p.Gly4616Val	NC_000001.10:g.215844600C>A	-	C0035334 268000 Retinitis pigmentosa
NM_206933.2(USH2A):c.13466G>A (p.Gly4489Asp)	7399	USH2A	Likely pathogenic	527236127	RCV000132704;	N	MedGen:C0035334,OMIM:268000,ORPHA:791,SNOMED CT:28835009	1	215847787	215847787	NM_206933.2:c.13466G>A	NP_996816.2:p.Gly4489Asp	NC_000001.10:g.215847787C>T	-	C0035334 268000 Retinitis pigmentosa
NM_206933.2(USH2A):c.10544A>G (p.Asp3515Gly)	7399	USH2A	Pathogenic	527236119	RCV000132700;	N	MedGen:C0035334,OMIM:268000,ORPHA:791,SNOMED CT:28835009	1	215956121	215956121	NM_206933.2:c.10544A>G	NP_996816.2:p.Asp3515Gly	NC_000001.10:g.215956121T>C	-	C0035334 268000 Retinitis pigmentosa
NM_206933.2(USH2A):c.9751T>C (p.Cys3251Arg)	7399	USH2A	Pathogenic	527236118	RCV000132717;	N	MedGen:C0035334,OMIM:268000,ORPHA:791,SNOMED CT:28835009	1	215972456	215972456	NM_206933.2:c.9751T>C	NP_996816.2:p.Cys3251Arg	NC_000001.10:g.215972456A>G	-	C0035334 268000 Retinitis pigmentosa
NM_206933.2(USH2A):c.8682delG (p.Arg2894Serfs)	7399	USH2A	Likely pathogenic	527236120	RCV000132716;	N	MedGen:C0035334,OMIM:268000,ORPHA:791,SNOMED CT:28835009	1	216040512	216040512	NM_206933.2:c.8682delG	NP_996816.2:p.Arg2894Serfs	NC_000001.10:g.216040512delC	-	C0035334 268000 Retinitis pigmentosa
NM_206933.2(USH2A):c.8559-2A>G	7399	USH2A	Pathogenic	397518039	RCV000041930; RCV000132715;	N	MedGen:C0035334,OMIM:268000,ORPHA:791,SNOMED CT:28835009; MedGen:C1848634,OMIM:276901	1	216051224	216051224	NM_206933.2:c.8559-2A>G		NC_000001.10:g.216051224T>C	-	C0035334 268000 Retinitis pigmentosa; C1848634 276901 Usher syndrome, type 2A
NM_206933.2(USH2A):c.6399G>A (p.Trp2133Ter)	7399	USH2A	Likely pathogenic	55958016	RCV000132714;	N	MedGen:C0035334,OMIM:268000,ORPHA:791,SNOMED CT:28835009	1	216173831	216173831	NM_206933.2:c.6399G>A	NP_996816.2:p.Trp2133Ter	NC_000001.10:g.216173831C>T	-	C0035334 268000 Retinitis pigmentosa
NM_206933.2(USH2A):c.2802T>G (p.Cys934Trp)	7399	USH2A	Pathogenic	201527662	RCV000132710;	N	MedGen:C0035334,OMIM:268000,ORPHA:791,SNOMED CT:28835009	1	216419934	216419934	NM_206933.2:c.2802T>G	NP_996816.2:p.Cys934Trp	NC_000001.10:g.216419934A>C	-	C0035334 268000 Retinitis pigmentosa
NM_206933.2(USH2A):c.2299delG (p.Glu767Serfs)	7399	USH2A	Pathogenic	80338903	RCV000002445; RCV000191141; RCV000032524; RCV000210326;	N	MedGen:C0035334,OMIM:268000,ORPHA:791,SNOMED CT:28835009; MedGen:C0854723,SNOMED CT:314407005; MedGen:C1848634,OMIM:276901; MedGen:C3151138,OMIM:613809	1	216420437	216420437	NM_206933.2:c.2299delG	NP_996816.2:p.Glu767Serfs	NC_000001.10:g.216420437delC	OMIM Allelic Variant:608400.0001	C0854723 Retinal dystrophy; C0035334 268000 Retinitis pigmentosa; C3151138 613809 Retinitis pigmentosa 39; C1848634 276901 Usher syndrome, type 2A
NM_206933.2(USH2A):c.2276G>T (p.Cys759Phe)	7399	USH2A	Likely pathogenic;Pathogenic;Uncertain significance	80338902	RCV000174625; RCV000002450; RCV000032523; RCV000041811;	N	MedGen:C0035334,OMIM:268000,ORPHA:791,SNOMED CT:28835009; MedGen:C1848634,OMIM:276901; MedGen:C3151138,OMIM:613809	1	216420460	216420460	NM_206933.2:c.2276G>T	NP_996816.2:p.Cys759Phe	NC_000001.10:g.216420460C>A	OMIM Allelic Variant:608400.0006	C0035334 268000 Retinitis pigmentosa; C3151138 613809 Retinitis pigmentosa 39; C1848634 276901 Usher syndrome, type 2A
NM_206933.2(USH2A):c.1722_1723insGA (p.Cys575Aspfs)	7399	USH2A	Likely pathogenic	527236121	RCV000132709;	N	MedGen:C0035334,OMIM:268000,ORPHA:791,SNOMED CT:28835009	1	216465634	216465635	NM_206933.2:c.1722_1723insGA	NP_996816.2:p.Cys575Aspfs	NC_000001.10:g.216465634_216465635insTC	-	C0035334 268000 Retinitis pigmentosa
NM_206933.2(USH2A):c.490G>T (p.Val164Phe)	7399	USH2A	Likely pathogenic	527236123	RCV000132713;	N	MedGen:C0035334,OMIM:268000,ORPHA:791,SNOMED CT:28835009	1	216592017	216592017	NM_206933.2:c.490G>T	NP_996816.2:p.Val164Phe	NC_000001.10:g.216592017C>A	-	C0035334 268000 Retinitis pigmentosa