CLRN1 (clarin 1) - Rat Genome Database

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Gene: CLRN1 (clarin 1) Homo sapiens
Analyze
Symbol: CLRN1
Name: clarin 1
RGD ID: 737108
HGNC Page HGNC:12605
Description: Involved in several processes, including equilibrioception; photoreceptor cell maintenance; and sensory perception of sound. Acts upstream of or within actin filament organization; cell motility; and positive regulation of lamellipodium assembly. Located in lamellipodium; microvillus; and plasma membrane. Implicated in Usher syndrome type 3A and retinitis pigmentosa 61.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: clarin-1; RP61; USH3; USH3A; usher syndrome type iii a; Usher syndrome type-3 protein
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh383150,926,163 - 150,972,999 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl3150,926,163 - 150,972,727 (-)EnsemblGRCh38hg38GRCh38
GRCh373150,643,950 - 150,690,786 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 363152,126,640 - 152,173,476 (-)NCBINCBI36Build 36hg18NCBI36
Build 343152,128,665 - 152,144,721NCBI
Celera3149,056,900 - 149,103,663 (-)NCBICelera
Cytogenetic Map3q25.1NCBI
HuRef3148,017,226 - 148,064,192 (-)NCBIHuRef
CHM1_13150,607,308 - 150,654,110 (-)NCBICHM1_1
T2T-CHM13v2.03153,677,250 - 153,724,083 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal central response of multifocal electroretinogram  (IAGP)
Abnormal cochlea morphology  (IAGP)
Abnormal electroretinogram  (IAGP)
Abnormal full-field electroretinogram  (IAGP)
Abnormal retinal vascular morphology  (IAGP)
Abnormal vestibular function  (IAGP)
Abnormality of fundus pigmentation  (IAGP)
Abnormality of retinal pigmentation  (IAGP)
Anxiety  (IAGP)
Astigmatism  (IAGP)
Ataxia  (IAGP)
Attenuation of retinal blood vessels  (IAGP)
Autosomal dominant inheritance  (IAGP)
Autosomal recessive inheritance  (IAGP)
Blindness  (IAGP)
Bone spicule pigmentation of the retina  (IAGP)
Cataract  (IAGP)
Childhood onset  (IAGP)
Color vision defect  (IAGP)
Conductive hearing impairment  (IAGP)
Congenital onset  (IAGP)
Constriction of peripheral visual field  (IAGP)
Cystoid macular edema  (IAGP)
Depression  (IAGP)
Glaucoma  (IAGP)
Hallucinations  (IAGP)
Hearing impairment  (IAGP)
Hemianopia  (IAGP)
High hypermetropia  (IAGP)
Hyperinsulinemia  (IAGP)
Iris hypopigmentation  (IAGP)
Keratoconus  (IAGP)
Nyctalopia  (IAGP)
Nystagmus  (IAGP)
Ophthalmoplegia  (IAGP)
Optic atrophy  (IAGP)
Optic disc drusen  (IAGP)
Optic disc pallor  (IAGP)
Peripheral visual field loss  (IAGP)
Photophobia  (IAGP)
Photopsia  (IAGP)
Photoreceptor outer segment loss on macular OCT  (IAGP)
Posterior subcapsular cataract  (IAGP)
Progressive night blindness  (IAGP)
Reduced visual acuity  (IAGP)
Retinal atrophy  (IAGP)
Retinal degeneration  (IAGP)
Retinal dystrophy  (IAGP)
Rod-cone dystrophy  (IAGP)
Schizophrenia  (IAGP)
Scotoma  (IAGP)
Sensorineural hearing impairment  (IAGP)
Undetectable light- and dark-adapted electroretinogram  (IAGP)
Vestibular hyporeflexia  (IAGP)
Visual field defect  (IAGP)
Visual impairment  (IAGP)
Visual loss  (IAGP)
X-linked recessive inheritance  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Genes and mutations causing retinitis pigmentosa. Daiger SP, etal., Clin Genet. 2013 Aug;84(2):132-41. doi: 10.1111/cge.12203. Epub 2013 Jun 19.
2. Usher syndrome type III: revised genomic structure of the USH3 gene and identification of novel mutations. Fields RR, etal., Am J Hum Genet 2002 Sep;71(3):607-17.
3. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
4. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
5. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
6. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
7. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:7711740   PMID:8889548   PMID:8975700   PMID:10364543   PMID:10704288   PMID:11524702   PMID:12080385   PMID:12477932   PMID:14569126   PMID:15489334   PMID:15521980   PMID:15650299  
PMID:18281613   PMID:18484607   PMID:19423712   PMID:19683999   PMID:19753315   PMID:20301590   PMID:20717163   PMID:21310491   PMID:21675857   PMID:21873635   PMID:22681893   PMID:22787034  
PMID:22964989   PMID:23304067   PMID:24618850   PMID:25743179   PMID:28469144   PMID:29490346   PMID:31097578   PMID:31968401   PMID:32296183   PMID:35481838  


Genomics

Comparative Map Data
CLRN1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh383150,926,163 - 150,972,999 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl3150,926,163 - 150,972,727 (-)EnsemblGRCh38hg38GRCh38
GRCh373150,643,950 - 150,690,786 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 363152,126,640 - 152,173,476 (-)NCBINCBI36Build 36hg18NCBI36
Build 343152,128,665 - 152,144,721NCBI
Celera3149,056,900 - 149,103,663 (-)NCBICelera
Cytogenetic Map3q25.1NCBI
HuRef3148,017,226 - 148,064,192 (-)NCBIHuRef
CHM1_13150,607,308 - 150,654,110 (-)NCBICHM1_1
T2T-CHM13v2.03153,677,250 - 153,724,083 (-)NCBIT2T-CHM13v2.0
Clrn1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39358,751,449 - 58,792,633 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl358,751,449 - 58,792,761 (-)EnsemblGRCm39 Ensembl
GRCm38358,844,028 - 58,885,212 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl358,844,028 - 58,885,340 (-)EnsemblGRCm38mm10GRCm38
MGSCv37358,649,137 - 58,689,134 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36358,933,144 - 58,973,141 (-)NCBIMGSCv36mm8
Celera358,539,156 - 58,572,424 (-)NCBICelera
Cytogenetic Map3DNCBI
cM Map328.78NCBI
Clrn1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr82145,233,941 - 145,280,855 (-)NCBIGRCr8
mRatBN7.22143,084,030 - 143,130,948 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl2143,084,030 - 143,130,948 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx2149,725,276 - 149,779,104 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.02147,836,830 - 147,890,665 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.02142,469,264 - 142,523,099 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.02149,049,925 - 149,088,787 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl2149,049,925 - 149,088,787 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.02168,473,047 - 168,511,371 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.42148,193,633 - 148,243,575 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.12148,143,595 - 148,163,994 (-)NCBI
Celera2137,511,773 - 137,558,813 (-)NCBICelera
Cytogenetic Map2q26NCBI
Clrn1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554482,062,647 - 2,106,548 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554482,062,647 - 2,106,548 (-)NCBIChiLan1.0ChiLan1.0
CLRN1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22148,825,320 - 148,872,235 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan13148,830,050 - 148,876,804 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v03147,954,124 - 148,000,895 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.13155,527,076 - 155,573,160 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl3155,526,011 - 155,573,684 (-)Ensemblpanpan1.1panPan2
CLRN1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12345,512,639 - 45,551,010 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2345,513,416 - 45,551,178 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2345,378,744 - 45,417,307 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02346,140,625 - 46,179,248 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2346,140,631 - 46,179,340 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12345,729,976 - 45,768,565 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02345,782,536 - 45,821,056 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02346,058,630 - 46,097,478 (-)NCBIUU_Cfam_GSD_1.0
Clrn1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440560290,481,850 - 90,516,983 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049367581,250,769 - 1,285,376 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049367581,250,831 - 1,286,016 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CLRN1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1391,106,207 - 91,148,031 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11391,104,850 - 91,152,397 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21399,231,666 - 99,272,739 (-)NCBISscrofa10.2Sscrofa10.2susScr3
CLRN1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11539,713,439 - 39,761,647 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1539,717,716 - 39,761,306 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604112,534,153 - 12,579,223 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Clrn1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462473028,373,120 - 28,412,282 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462473028,373,111 - 28,412,282 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in CLRN1
337 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_174878.3(CLRN1):c.461T>G (p.Leu154Trp) single nucleotide variant Retinitis pigmentosa 61 [RCV000023537]|Usher syndrome type 3A [RCV002513194] Chr3:150928174 [GRCh38]
Chr3:150645961 [GRCh37]
Chr3:3q25.1		 pathogenic|likely pathogenic
NM_174878.3(CLRN1):c.92C>T (p.Pro31Leu) single nucleotide variant Retinal dystrophy [RCV001073290]|Retinitis pigmentosa 61 [RCV000023538]|not provided [RCV001384938] Chr3:150972617 [GRCh38]
Chr3:150690404 [GRCh37]
Chr3:3q25.1		 pathogenic
NM_052995.2(CLRN1):c.300T>G (p.Tyr100Ter) single nucleotide variant Hearing impairment [RCV001375084]|Retinitis pigmentosa 61 [RCV003466811]|Retinitis pigmentosa [RCV002247246]|Retinitis pigmentosa [RCV002496258]|Usher syndrome type 3 [RCV000004642]|not provided [RCV000724158] Chr3:150928107 [GRCh38]
Chr3:150645894 [GRCh37]
Chr3:3q25.1		 pathogenic|likely pathogenic
NM_174878.3(CLRN1):c.359T>A (p.Met120Lys) single nucleotide variant Usher syndrome type 3 [RCV000004643]|not provided [RCV001851649] Chr3:150941656 [GRCh38]
Chr3:150659443 [GRCh37]
Chr3:3q25.1		 pathogenic|likely pathogenic
NM_174878.3(CLRN1):c.459_461del (p.Ile153_Leu154delinsMet) deletion Retinitis pigmentosa 61 [RCV004566682]|Usher syndrome type 3 [RCV000004644] Chr3:150928174..150928176 [GRCh38]
Chr3:150645961..150645963 [GRCh37]
Chr3:3q25.1		 pathogenic|likely pathogenic
NM_174878.3(CLRN1):c.144T>G (p.Asn48Lys) single nucleotide variant Retinal dystrophy [RCV001073333]|Retinitis pigmentosa 61 [RCV003466812]|Retinitis pigmentosa [RCV000504948]|Retinitis pigmentosa [RCV001824560]|Retinitis pigmentosa [RCV002504744]|Usher syndrome type 3 [RCV000004645]|Usher syndrome type 3A [RCV001273483]|not provided [RCV000489880]|not specified [RCV000999864] Chr3:150972565 [GRCh38]
Chr3:150690352 [GRCh37]
Chr3:3q25.1		 pathogenic|likely pathogenic|uncertain significance|not provided
NM_174878.3(CLRN1):c.449T>C (p.Leu150Pro) single nucleotide variant Retinitis pigmentosa 61 [RCV003466813]|Usher syndrome type 3 [RCV000004646] Chr3:150928186 [GRCh38]
Chr3:150645973 [GRCh37]
Chr3:3q25.1		 pathogenic|likely pathogenic
NM_174878.3(CLRN1):c.189C>A (p.Tyr63Ter) single nucleotide variant CLRN1-related disorder [RCV003407275]|Rare genetic deafness [RCV000844690]|Retinitis pigmentosa 61 [RCV003466814]|Retinitis pigmentosa [RCV000505037]|Usher syndrome type 3 [RCV000004647]|Usher syndrome type 3A [RCV001376502]|not provided [RCV001384937] Chr3:150972520 [GRCh38]
Chr3:150690307 [GRCh37]
Chr3:3q25.1		 pathogenic
NM_174878.3(CLRN1):c.188_210del (p.Tyr63fs) deletion Usher syndrome type 3 [RCV000004648] Chr3:150972499..150972521 [GRCh38]
Chr3:150690286..150690308 [GRCh37]
Chr3:3q25.1		 pathogenic
NM_174878.3(CLRN1):c.118T>G (p.Cys40Gly) single nucleotide variant CLRN1-related disorder [RCV004754242]|Retinal dystrophy [RCV001075346]|Retinitis pigmentosa 61 [RCV003466815]|Usher syndrome [RCV002468960]|Usher syndrome type 3 [RCV000004649]|Usher syndrome type 3A [RCV001273484]|not provided [RCV000414238] Chr3:150972591 [GRCh38]
Chr3:150690378 [GRCh37]
Chr3:3q25.1		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|no classifications from unflagged records
NM_174878.3(CLRN1):c.*5C>T single nucleotide variant not provided [RCV001618236]|not specified [RCV000041429] Chr3:150927931 [GRCh38]
Chr3:150645718 [GRCh37]
Chr3:3q25.1		 benign
NM_174878.3(CLRN1):c.127G>A (p.Gly43Arg) single nucleotide variant Rare genetic deafness [RCV000041430]|not provided [RCV001058723] Chr3:150972582 [GRCh38]
Chr3:150690369 [GRCh37]
Chr3:3q25.1		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_174878.3(CLRN1):c.142A>G (p.Asn48Asp) single nucleotide variant Retinal dystrophy [RCV001074854]|Usher syndrome type 3 [RCV001831698]|not provided [RCV001852844]|not specified [RCV000041431] Chr3:150972567 [GRCh38]
Chr3:150690354 [GRCh37]
Chr3:3q25.1		 likely pathogenic|uncertain significance
NM_174878.3(CLRN1):c.243T>C (p.Phe81=) single nucleotide variant not provided [RCV002054814]|not specified [RCV000041434] Chr3:150972466 [GRCh38]
Chr3:150690253 [GRCh37]
Chr3:3q25.1		 likely benign
NM_174878.3(CLRN1):c.301_305del (p.Val101fs) deletion Rare genetic deafness [RCV000844625]|Usher syndrome [RCV002273943]|Usher syndrome type 3 [RCV000041435]|not provided [RCV002513586] Chr3:150941710..150941714 [GRCh38]
Chr3:150659497..150659501 [GRCh37]
Chr3:3q25.1		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_174878.3(CLRN1):c.368C>A (p.Ala123Asp) single nucleotide variant Rare genetic deafness [RCV000844624]|Retinitis pigmentosa 61 [RCV003466890]|Usher syndrome [RCV001582535]|Usher syndrome type 3 [RCV000041436]|Usher syndrome type 3A [RCV002243688]|not provided [RCV001071445] Chr3:150941647 [GRCh38]
Chr3:150659434 [GRCh37]
Chr3:3q25.1		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_174878.3(CLRN1):c.57A>T (p.Ala19=) single nucleotide variant Retinal dystrophy [RCV003887879]|Usher syndrome type 3 [RCV000349170]|Usher syndrome type 3A [RCV001273485]|not provided [RCV001520211]|not specified [RCV000041437] Chr3:150972652 [GRCh38]
Chr3:150690439 [GRCh37]
Chr3:3q25.1		 benign|likely benign
NM_174878.3(CLRN1):c.6A>C (p.Pro2=) single nucleotide variant Usher syndrome type 3 [RCV000672213]|Usher syndrome type 3A [RCV001273486]|not provided [RCV000086945]|not specified [RCV000041438] Chr3:150972703 [GRCh38]
Chr3:150690490 [GRCh37]
Chr3:3q25.1		 benign|likely benign|not provided
NM_174878.3(CLRN1):c.9C>A (p.Ser3Arg) single nucleotide variant Retinal dystrophy [RCV003887880]|Usher syndrome type 3A [RCV001272456]|not provided [RCV000726773]|not specified [RCV000041439] Chr3:150972700 [GRCh38]
Chr3:150690487 [GRCh37]
Chr3:3q25.1		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh38/hg38 3q24-26.32(chr3:147442566-178522531)x3 copy number gain See cases [RCV000051724] Chr3:147442566..178522531 [GRCh38]
Chr3:147160353..178240319 [GRCh37]
Chr3:148643043..179723013 [NCBI36]
Chr3:3q24-26.32		 pathogenic
GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3 copy number gain See cases [RCV000051725] Chr3:147521892..198096565 [GRCh38]
Chr3:147239679..197823436 [GRCh37]
Chr3:148722369..199307833 [NCBI36]
Chr3:3q24-29		 pathogenic
GRCh38/hg38 3q22.3-29(chr3:137126982-198110178)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051723]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051723]|See cases [RCV000051723] Chr3:137126982..198110178 [GRCh38]
Chr3:136845824..197837049 [GRCh37]
Chr3:138328514..199321446 [NCBI36]
Chr3:3q22.3-29		 pathogenic
NM_174878.3(CLRN1):c.433+1109C>A single nucleotide variant Retinal dystrophy [RCV004815905] Chr3:150940473 [GRCh38]
Chr3:150658260 [GRCh37]
Chr3:3q25.1		 uncertain significance
GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3 copy number gain See cases [RCV000134948] Chr3:103426882..198110178 [GRCh38]
Chr3:103145726..197837049 [GRCh37]
Chr3:104628416..199321446 [NCBI36]
Chr3:3q13.11-29		 pathogenic
GRCh38/hg38 3q25.1(chr3:150889603-151142420)x3 copy number gain See cases [RCV000138618] Chr3:150889603..151142420 [GRCh38]
Chr3:150607390..150860207 [GRCh37]
Chr3:152090080..152342897 [NCBI36]
Chr3:3q25.1		 likely benign
NM_174878.3(CLRN1):c.660C>T (p.Asp220=) single nucleotide variant Usher syndrome type 3 [RCV000382986]|Usher syndrome type 3A [RCV001273479]|not provided [RCV000907924]|not specified [RCV000155062] Chr3:150927975 [GRCh38]
Chr3:150645762 [GRCh37]
Chr3:3q25.1		 likely benign|uncertain significance
NM_001195794.1(CLRN1):c.149_152delinsTGTCCAAT (p.Ser50fs) indel Rare genetic deafness [RCV000844691]|Retinal dystrophy [RCV001073424]|Retinitis pigmentosa 61 [RCV003468834]|Retinitis pigmentosa [RCV002485050]|Usher syndrome type 3 [RCV000169027]|not provided [RCV000478734] Chr3:150972557..150972560 [GRCh38]
Chr3:150690344..150690347 [GRCh37]
Chr3:3q25.1		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
GRCh37/hg19 3q24-29(chr3:142995020-192997215)x4 copy number gain See cases [RCV000240256] Chr3:142995020..192997215 [GRCh37]
Chr3:3q24-29		 pathogenic
NM_174878.3(CLRN1):c.502dup (p.Ile168fs) duplication CLRN1-related disorder [RCV003398866]|Retinal dystrophy [RCV001073703]|Retinitis pigmentosa 61 [RCV002466459]|Retinitis pigmentosa [RCV002498841]|Usher syndrome [RCV002281991]|Usher syndrome type 3 [RCV000169229]|Usher syndrome type 3A [RCV001273481]|not provided [RCV001054127] Chr3:150928132..150928133 [GRCh38]
Chr3:150645919..150645920 [GRCh37]
Chr3:3q25.1		 pathogenic|likely pathogenic
NM_174878.3(CLRN1):c.*115G>A single nucleotide variant Usher syndrome type 3 [RCV000324824] Chr3:150927821 [GRCh38]
Chr3:150645608 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_174878.3(CLRN1):c.*90A>G single nucleotide variant Usher syndrome type 3 [RCV000360857]|not provided [RCV004694715] Chr3:150927846 [GRCh38]
Chr3:150645633 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_174878.3(CLRN1):c.226T>C (p.Leu76=) single nucleotide variant Usher syndrome type 3 [RCV001275853]|not provided [RCV000726594]|not specified [RCV000220367] Chr3:150972483 [GRCh38]
Chr3:150690270 [GRCh37]
Chr3:3q25.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_174878.3(CLRN1):c.433+1105C>T single nucleotide variant Usher syndrome type 3A [RCV001527489]|not provided [RCV000838420]|not specified [RCV000218178] Chr3:150940477 [GRCh38]
Chr3:150658264 [GRCh37]
Chr3:3q25.1		 benign
NM_174878.3(CLRN1):c.433+1106T>C single nucleotide variant CLRN1-related disorder [RCV003937849]|not specified [RCV000222861] Chr3:150940476 [GRCh38]
Chr3:150658263 [GRCh37]
Chr3:3q25.1		 likely benign|uncertain significance
NM_174878.3(CLRN1):c.433+1061A>T single nucleotide variant Hearing impairment [RCV001375114]|Optic atrophy [RCV004816365]|Retinal dystrophy [RCV004816364]|Retinitis pigmentosa [RCV001197097]|Usher syndrome type 3 [RCV000664764]|not provided [RCV000766844]|not specified [RCV000219342] Chr3:150940521 [GRCh38]
Chr3:150658308 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_174878.3(CLRN1):c.98G>A (p.Trp33Ter) single nucleotide variant Retinal dystrophy [RCV000225684] Chr3:150972611 [GRCh38]
Chr3:150690398 [GRCh37]
Chr3:3q25.1		 likely pathogenic
NM_174878.3(CLRN1):c.43G>A (p.Val15Met) single nucleotide variant Usher syndrome type 3 [RCV001825496]|not provided [RCV000757092] Chr3:150972666 [GRCh38]
Chr3:150690453 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_174878.3(CLRN1):c.254-2115del deletion Usher syndrome type 3 [RCV000669664] Chr3:150943876 [GRCh38]
Chr3:150661663 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_174878.3(CLRN1):c.*1038G>A single nucleotide variant Usher syndrome type 3 [RCV000278638]|Usher syndrome type 3A [RCV001526749]|not provided [RCV003221942] Chr3:150926898 [GRCh38]
Chr3:150644685 [GRCh37]
Chr3:3q25.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_174878.3(CLRN1):c.*1039A>T single nucleotide variant Usher syndrome type 3 [RCV000337397]|not provided [RCV001559345] Chr3:150926897 [GRCh38]
Chr3:150644684 [GRCh37]
Chr3:3q25.1		 likely benign|uncertain significance
NM_174878.3(CLRN1):c.*1331C>T single nucleotide variant Usher syndrome type 3 [RCV000270866] Chr3:150926605 [GRCh38]
Chr3:150644392 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_174878.3(CLRN1):c.*1330T>C single nucleotide variant Usher syndrome type 3 [RCV000389742] Chr3:150926606 [GRCh38]
Chr3:150644393 [GRCh37]
Chr3:3q25.1		 likely benign|uncertain significance
NM_174878.3(CLRN1):c.*315C>T single nucleotide variant Usher syndrome type 3 [RCV000273387]|not provided [RCV001672624] Chr3:150927621 [GRCh38]
Chr3:150645408 [GRCh37]
Chr3:3q25.1		 benign
NM_174878.3(CLRN1):c.*372C>T single nucleotide variant Usher syndrome type 3 [RCV000368414]|not provided [RCV004716037] Chr3:150927564 [GRCh38]
Chr3:150645351 [GRCh37]
Chr3:3q25.1		 benign
NM_174878.3(CLRN1):c.*275A>G single nucleotide variant Usher syndrome type 3 [RCV000300124] Chr3:150927661 [GRCh38]
Chr3:150645448 [GRCh37]
Chr3:3q25.1		 likely benign|uncertain significance
NM_174878.3(CLRN1):c.*884A>C single nucleotide variant Usher syndrome type 3 [RCV000339707]|not provided [RCV001707668] Chr3:150927052 [GRCh38]
Chr3:150644839 [GRCh37]
Chr3:3q25.1		 benign|likely benign
NM_174878.3(CLRN1):c.*277GT[11] microsatellite Retinitis Pigmentosa, Dominant [RCV000288081]|Retinitis pigmentosa-deafness syndrome [RCV000352316] Chr3:150927632..150927637 [GRCh38]
Chr3:150645419..150645424 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_174878.3(CLRN1):c.473A>G (p.Glu158Gly) single nucleotide variant Usher syndrome type 3 [RCV000327197]|not provided [RCV001338770] Chr3:150928162 [GRCh38]
Chr3:150645949 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_174878.3(CLRN1):c.*277GT[13] microsatellite Retinitis Pigmentosa, Dominant [RCV000376478]|Retinitis pigmentosa-deafness syndrome [RCV000291402]|not provided [RCV001594980] Chr3:150927632..150927633 [GRCh38]
Chr3:150645419..150645420 [GRCh37]
Chr3:3q25.1		 benign
NM_174878.3(CLRN1):c.*964C>T single nucleotide variant Usher syndrome type 3 [RCV000343284]|not provided [RCV001725174] Chr3:150926972 [GRCh38]
Chr3:150644759 [GRCh37]
Chr3:3q25.1		 benign|likely benign
NM_174878.3(CLRN1):c.*425G>A single nucleotide variant Usher syndrome type 3 [RCV000407622] Chr3:150927511 [GRCh38]
Chr3:150645298 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_174878.3(CLRN1):c.*856G>A single nucleotide variant Usher syndrome type 3 [RCV000402253] Chr3:150927080 [GRCh38]
Chr3:150644867 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_174878.3(CLRN1):c.*277GT[12] microsatellite Retinitis Pigmentosa, Dominant [RCV000346639]|Retinitis pigmentosa-deafness syndrome [RCV000394325]|not provided [RCV001675844] Chr3:150927632..150927635 [GRCh38]
Chr3:150645419..150645422 [GRCh37]
Chr3:3q25.1		 benign|uncertain significance
NM_174878.3(CLRN1):c.*265AT[5] microsatellite Retinitis Pigmentosa, Dominant [RCV000367469]|Retinitis pigmentosa-deafness syndrome [RCV000389960]|not provided [RCV001672625] Chr3:150927660..150927661 [GRCh38]
Chr3:150645447..150645448 [GRCh37]
Chr3:3q25.1		 benign|uncertain significance
NM_174878.3(CLRN1):c.*277G>A single nucleotide variant Usher syndrome type 3 [RCV000312930]|not provided [RCV001577567] Chr3:150927659 [GRCh38]
Chr3:150645446 [GRCh37]
Chr3:3q25.1		 likely benign|uncertain significance
NM_174878.3(CLRN1):c.*1165C>G single nucleotide variant Usher syndrome type 3 [RCV000386224] Chr3:150926771 [GRCh38]
Chr3:150644558 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_174878.3(CLRN1):c.*277GT[16] microsatellite Retinitis Pigmentosa, Dominant [RCV000321689]|Retinitis pigmentosa-deafness syndrome [RCV000285424]|not provided [RCV001591001] Chr3:150927631..150927632 [GRCh38]
Chr3:150645418..150645419 [GRCh37]
Chr3:3q25.1		 likely benign|uncertain significance
NM_174878.3(CLRN1):c.*307G>T single nucleotide variant Usher syndrome type 3 [RCV000355742] Chr3:150927629 [GRCh38]
Chr3:150645416 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_174878.3(CLRN1):c.*277GT[15] microsatellite Retinitis Pigmentosa, Dominant [RCV000316048]|Retinitis pigmentosa-deafness syndrome [RCV000379991]|not provided [RCV001594979] Chr3:150927631..150927632 [GRCh38]
Chr3:150645418..150645419 [GRCh37]
Chr3:3q25.1		 benign|uncertain significance
NM_174878.3(CLRN1):c.73G>T (p.Val25Leu) single nucleotide variant not provided [RCV000355017] Chr3:150972636 [GRCh38]
Chr3:150690423 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_174878.3(CLRN1):c.571G>A (p.Val191Ile) single nucleotide variant not provided [RCV000366407]|not specified [RCV003488499] Chr3:150928064 [GRCh38]
Chr3:150645851 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_001195794.1(CLRN1):c.-82T>C single nucleotide variant Usher syndrome type 3 [RCV000341888] Chr3:150972790 [GRCh38]
Chr3:150690577 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_001195794.1(CLRN1):c.-289G>A single nucleotide variant Usher syndrome type 3 [RCV000310548]|not provided [RCV001577695] Chr3:150972997 [GRCh38]
Chr3:150690784 [GRCh37]
Chr3:3q25.1		 likely benign|uncertain significance
NM_001195794.1(CLRN1):c.-71A>G single nucleotide variant Usher syndrome type 3 [RCV000401177]|not provided [RCV001613133] Chr3:150972779 [GRCh38]
Chr3:150690566 [GRCh37]
Chr3:3q25.1		 benign|likely benign
NM_001195794.1(CLRN1):c.-274A>C single nucleotide variant Usher syndrome type 3 [RCV000359480] Chr3:150972982 [GRCh38]
Chr3:150690769 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_174878.3(CLRN1):c.209G>A (p.Gly70Asp) single nucleotide variant Usher syndrome type 3 [RCV000735691] Chr3:150972500 [GRCh38]
Chr3:150690287 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_174878.3(CLRN1):c.13C>T (p.Gln5Ter) single nucleotide variant Usher syndrome type 3 [RCV000412180]|not provided [RCV002523872] Chr3:150972696 [GRCh38]
Chr3:150690483 [GRCh37]
Chr3:3q25.1		 pathogenic|likely pathogenic
NM_174878.3(CLRN1):c.433+2dup duplication Usher syndrome type 3 [RCV000412361] Chr3:150941579..150941580 [GRCh38]
Chr3:150659366..150659367 [GRCh37]
Chr3:3q25.1		 likely pathogenic
NM_174878.3(CLRN1):c.619C>T (p.Arg207Ter) single nucleotide variant Retinitis pigmentosa 61 [RCV003470355]|Retinitis pigmentosa [RCV002502431]|Usher syndrome type 3 [RCV000408993]|Usher syndrome type 3A [RCV001273480]|not provided [RCV001065581] Chr3:150928016 [GRCh38]
Chr3:150645803 [GRCh37]
Chr3:3q25.1		 pathogenic
GRCh37/hg19 3q24-25.2(chr3:148425748-153220169)x1 copy number loss See cases [RCV000447056] Chr3:148425748..153220169 [GRCh37]
Chr3:3q24-25.2		 pathogenic
GRCh37/hg19 3q24-26.2(chr3:147180945-168415875)x1 copy number loss See cases [RCV000448130] Chr3:147180945..168415875 [GRCh37]
Chr3:3q24-26.2		 pathogenic
NM_174878.3(CLRN1):c.254-2179_254-2178delinsCT indel not specified [RCV000483828] Chr3:150943939..150943940 [GRCh38]
Chr3:150661726..150661727 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_174878.3(CLRN1):c.254-2057T>C single nucleotide variant Usher syndrome type 3 [RCV000669002] Chr3:150943818 [GRCh38]
Chr3:150661605 [GRCh37]
Chr3:3q25.1		 likely benign
NM_174878.3(CLRN1):c.457A>G (p.Ile153Val) single nucleotide variant Inborn genetic diseases [RCV003253342] Chr3:150928178 [GRCh38]
Chr3:150645965 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_174878.3(CLRN1):c.183G>A (p.Met61Ile) single nucleotide variant CLRN1-related disorder [RCV004754489]|Inborn genetic diseases [RCV003160054]|Retinal dystrophy [RCV004817804]|Usher syndrome type 3 [RCV001146711]|Usher syndrome type 3A [RCV001275854]|not provided [RCV000598081] Chr3:150972526 [GRCh38]
Chr3:150690313 [GRCh37]
Chr3:3q25.1		 uncertain significance
GRCh37/hg19 3q25.1-25.2(chr3:150352753-153522663)x1 copy number loss See cases [RCV000510834] Chr3:150352753..153522663 [GRCh37]
Chr3:3q25.1-25.2		 likely pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986) copy number gain See cases [RCV000512358] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
NM_174878.3(CLRN1):c.291C>T (p.Ile97=) single nucleotide variant Usher syndrome type 3 [RCV000672035]|not provided [RCV001495848] Chr3:150941724 [GRCh38]
Chr3:150659511 [GRCh37]
Chr3:3q25.1		 likely benign|uncertain significance
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3 copy number gain See cases [RCV000511055] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
NM_174878.3(CLRN1):c.254-2054G>C single nucleotide variant CLRN1-related disorder [RCV003962742]|not specified [RCV000605923] Chr3:150943815 [GRCh38]
Chr3:150661602 [GRCh37]
Chr3:3q25.1		 likely benign|uncertain significance
NM_174878.3(CLRN1):c.126G>A (p.Thr42=) single nucleotide variant CLRN1-related disorder [RCV003953068]|not provided [RCV000934034] Chr3:150972583 [GRCh38]
Chr3:150690370 [GRCh37]
Chr3:3q25.1		 likely benign
NM_174878.3(CLRN1):c.218A>G (p.Gln73Arg) single nucleotide variant Retinal dystrophy [RCV004817812]|Retinitis pigmentosa [RCV002483668]|Usher syndrome type 3 [RCV000668103]|Usher syndrome type 3A [RCV001273482]|not provided [RCV001041687]|not specified [RCV000614663] Chr3:150972491 [GRCh38]
Chr3:150690278 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_174878.3(CLRN1):c.254-2189dup duplication Usher syndrome type 3 [RCV000670715] Chr3:150943946..150943947 [GRCh38]
Chr3:150661733..150661734 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_174878.3(CLRN1):c.433+1102G>T single nucleotide variant Usher syndrome type 3 [RCV000672444] Chr3:150940480 [GRCh38]
Chr3:150658267 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_174878.3(CLRN1):c.2T>C (p.Met1Thr) single nucleotide variant Hearing impairment [RCV001375069]|Usher syndrome type 3 [RCV000671180] Chr3:150972707 [GRCh38]
Chr3:150690494 [GRCh37]
Chr3:3q25.1		 likely pathogenic
NM_174878.3(CLRN1):c.254-2082T>G single nucleotide variant Usher syndrome type 3 [RCV000671519] Chr3:150943843 [GRCh38]
Chr3:150661630 [GRCh37]
Chr3:3q25.1		 likely benign
NM_174878.3(CLRN1):c.151_154del (p.Gly51fs) deletion Usher syndrome type 3 [RCV000671643] Chr3:150972555..150972558 [GRCh38]
Chr3:150690342..150690345 [GRCh37]
Chr3:3q25.1		 likely pathogenic
NM_174878.3(CLRN1):c.456_458del (p.Met152del) deletion Usher syndrome type 3 [RCV000671837] Chr3:150928177..150928179 [GRCh38]
Chr3:150645964..150645966 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_174878.3(CLRN1):c.336C>G (p.Thr112=) single nucleotide variant Usher syndrome type 3 [RCV000668143]|not provided [RCV000979978] Chr3:150941679 [GRCh38]
Chr3:150659466 [GRCh37]
Chr3:3q25.1		 likely benign
NM_174878.3(CLRN1):c.407G>A (p.Gly136Glu) single nucleotide variant Retinal dystrophy [RCV003889961]|Usher syndrome type 3 [RCV000671965]|Usher syndrome type 3A [RCV001810476]|not provided [RCV001246418] Chr3:150941608 [GRCh38]
Chr3:150659395 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_174878.3(CLRN1):c.254-2111del deletion Usher syndrome type 3 [RCV000668543] Chr3:150943872 [GRCh38]
Chr3:150661659 [GRCh37]
Chr3:3q25.1		 likely benign
NM_174878.3(CLRN1):c.541C>T (p.Gln181Ter) single nucleotide variant Retinitis pigmentosa 61 [RCV003465476]|Usher syndrome type 3 [RCV000667382] Chr3:150928094 [GRCh38]
Chr3:150645881 [GRCh37]
Chr3:3q25.1		 pathogenic|likely pathogenic
NM_174878.3(CLRN1):c.254-2081G>A single nucleotide variant Usher syndrome type 3 [RCV000671218] Chr3:150943842 [GRCh38]
Chr3:150661629 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_174878.3(CLRN1):c.254-2132C>T single nucleotide variant Usher syndrome type 3 [RCV000667782] Chr3:150943893 [GRCh38]
Chr3:150661680 [GRCh37]
Chr3:3q25.1		 likely benign
NM_174878.3(CLRN1):c.184C>T (p.Gln62Ter) single nucleotide variant Usher syndrome type 3 [RCV000673059] Chr3:150972525 [GRCh38]
Chr3:150690312 [GRCh37]
Chr3:3q25.1		 likely pathogenic
NM_174878.3(CLRN1):c.40G>T (p.Gly14Ter) single nucleotide variant Usher syndrome type 3 [RCV000674487] Chr3:150972669 [GRCh38]
Chr3:150690456 [GRCh37]
Chr3:3q25.1		 likely pathogenic
NM_174878.3(CLRN1):c.433+1083ACCAGGC[3] microsatellite Usher syndrome type 3 [RCV000668126] Chr3:150940485..150940486 [GRCh38]
Chr3:150658272..150658273 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_174878.3(CLRN1):c.3G>A (p.Met1Ile) single nucleotide variant Usher syndrome type 3 [RCV000668252] Chr3:150972706 [GRCh38]
Chr3:150690493 [GRCh37]
Chr3:3q25.1		 likely pathogenic
NM_174878.3(CLRN1):c.254-2099_254-2086del deletion Usher syndrome type 3 [RCV000665627] Chr3:150943847..150943860 [GRCh38]
Chr3:150661634..150661647 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_174878.3(CLRN1):c.372del (p.Phe124fs) deletion Usher syndrome type 3 [RCV000673092] Chr3:150941643 [GRCh38]
Chr3:150659430 [GRCh37]
Chr3:3q25.1		 likely pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61495-197838262)x3 copy number gain not provided [RCV000742138] Chr3:61495..197838262 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
GRCh37/hg19 3p26.3-q29(chr3:60174-197948027)x3 copy number gain not provided [RCV000742133] Chr3:60174..197948027 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
NM_174878.3(CLRN1):c.434-242del deletion not provided [RCV001574680] Chr3:150928443 [GRCh38]
Chr3:150646230 [GRCh37]
Chr3:3q25.1		 likely benign
NM_174878.3(CLRN1):c.433+996T>C single nucleotide variant not provided [RCV001576647] Chr3:150940586 [GRCh38]
Chr3:150658373 [GRCh37]
Chr3:3q25.1		 likely benign
NM_174878.3(CLRN1):c.*537T>C single nucleotide variant Usher syndrome type 3 [RCV001147514] Chr3:150927399 [GRCh38]
Chr3:150645186 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_001195794.1(CLRN1):c.-91C>T single nucleotide variant Usher syndrome type 3 [RCV001147609]|not provided [RCV004694918] Chr3:150972799 [GRCh38]
Chr3:150690586 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_174878.3(CLRN1):c.20A>T (p.Lys7Ile) single nucleotide variant Retinal dystrophy [RCV003890045]|Usher syndrome type 3 [RCV001146712]|Usher syndrome type 3A [RCV001272455]|not provided [RCV000904991] Chr3:150972689 [GRCh38]
Chr3:150690476 [GRCh37]
Chr3:3q25.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_174878.3(CLRN1):c.453C>T (p.Val151=) single nucleotide variant not provided [RCV000975367] Chr3:150928182 [GRCh38]
Chr3:150645969 [GRCh37]
Chr3:3q25.1		 likely benign
NM_174878.3(CLRN1):c.348A>G (p.Thr116=) single nucleotide variant not provided [RCV000927921] Chr3:150941667 [GRCh38]
Chr3:150659454 [GRCh37]
Chr3:3q25.1		 likely benign
NM_174878.3(CLRN1):c.165del (p.Asp55fs) deletion Retinal dystrophy [RCV001075319] Chr3:150972544 [GRCh38]
Chr3:150690331 [GRCh37]
Chr3:3q25.1		 likely pathogenic
NM_174878.3(CLRN1):c.440G>A (p.Cys147Tyr) single nucleotide variant Retinal dystrophy [RCV001075812] Chr3:150928195 [GRCh38]
Chr3:150645982 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_174878.3(CLRN1):c.67G>T (p.Gly23Ter) single nucleotide variant not provided [RCV001039580] Chr3:150972642 [GRCh38]
Chr3:150690429 [GRCh37]
Chr3:3q25.1		 pathogenic
NM_174878.3(CLRN1):c.154C>T (p.Gln52Ter) single nucleotide variant Retinal dystrophy [RCV001073292]|not provided [RCV001862800] Chr3:150972555 [GRCh38]
Chr3:150690342 [GRCh37]
Chr3:3q25.1		 pathogenic|likely pathogenic
NM_174878.3(CLRN1):c.529G>A (p.Val177Ile) single nucleotide variant Usher syndrome type 3A [RCV001275851]|not provided [RCV001042182] Chr3:150928106 [GRCh38]
Chr3:150645893 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_174878.3(CLRN1):c.121_136dup (p.Leu46fs) duplication Retinitis pigmentosa 61 [RCV003467418]|not provided [RCV000807133] Chr3:150972572..150972573 [GRCh38]
Chr3:150690359..150690360 [GRCh37]
Chr3:3q25.1		 pathogenic|likely pathogenic
NM_174878.3(CLRN1):c.254-2060A>C single nucleotide variant not provided [RCV000978183] Chr3:150943821 [GRCh38]
Chr3:150661608 [GRCh37]
Chr3:3q25.1		 likely benign
NM_174878.3(CLRN1):c.624T>G (p.Leu208=) single nucleotide variant not provided [RCV000943480] Chr3:150928011 [GRCh38]
Chr3:150645798 [GRCh37]
Chr3:3q25.1		 likely benign
NM_174878.3(CLRN1):c.540G>A (p.Thr180=) single nucleotide variant Usher syndrome type 3 [RCV001832249]|not provided [RCV000977607] Chr3:150928095 [GRCh38]
Chr3:150645882 [GRCh37]
Chr3:3q25.1		 likely benign
NM_174878.3(CLRN1):c.270C>G (p.Leu90=) single nucleotide variant Retinal dystrophy [RCV003890143]|Usher syndrome type 3A [RCV001275852]|not provided [RCV000981414] Chr3:150941745 [GRCh38]
Chr3:150659532 [GRCh37]
Chr3:3q25.1		 likely benign|uncertain significance
NM_174878.3(CLRN1):c.39C>T (p.Ala13=) single nucleotide variant not provided [RCV001482166]|not specified [RCV000825732] Chr3:150972670 [GRCh38]
Chr3:150690457 [GRCh37]
Chr3:3q25.1		 likely benign
NM_174878.3(CLRN1):c.323T>C (p.Leu108Pro) single nucleotide variant Usher syndrome type 3 [RCV000782282] Chr3:150941692 [GRCh38]
Chr3:150659479 [GRCh37]
Chr3:3q25.1		 pathogenic
NM_174878.3(CLRN1):c.254-1947A>G single nucleotide variant Usher syndrome type 3A [RCV001527491]|not provided [RCV000838379] Chr3:150943708 [GRCh38]
Chr3:150661495 [GRCh37]
Chr3:3q25.1		 benign
NM_174878.2(CLRN1):c.-617C>T single nucleotide variant not provided [RCV000826381] Chr3:150973325 [GRCh38]
Chr3:150691112 [GRCh37]
Chr3:3q25.1		 benign
NM_174878.3(CLRN1):c.433+1388A>C single nucleotide variant not provided [RCV000826382] Chr3:150940194 [GRCh38]
Chr3:150657981 [GRCh37]
Chr3:3q25.1		 benign
NM_174878.3(CLRN1):c.254-2294A>C single nucleotide variant Usher syndrome type 3A [RCV001527492]|not provided [RCV000833689] Chr3:150944055 [GRCh38]
Chr3:150661842 [GRCh37]
Chr3:3q25.1		 benign
NM_174878.3(CLRN1):c.254-1924T>A single nucleotide variant Usher syndrome type 3A [RCV001527490]|not provided [RCV000838380] Chr3:150943685 [GRCh38]
Chr3:150661472 [GRCh37]
Chr3:3q25.1		 benign
NM_174878.3(CLRN1):c.434-242T>C single nucleotide variant not provided [RCV000838407] Chr3:150928443 [GRCh38]
Chr3:150646230 [GRCh37]
Chr3:3q25.1		 benign
NM_174878.3(CLRN1):c.578del (p.Phe193fs) deletion Retinitis pigmentosa 61 [RCV003467372]|not provided [RCV000798573] Chr3:150928057 [GRCh38]
Chr3:150645844 [GRCh37]
Chr3:3q25.1		 pathogenic|likely pathogenic
NM_174878.3(CLRN1):c.*835G>T single nucleotide variant Usher syndrome type 3 [RCV001147511] Chr3:150927101 [GRCh38]
Chr3:150644888 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_174878.3(CLRN1):c.*1262G>A single nucleotide variant Usher syndrome type 3 [RCV001146594] Chr3:150926674 [GRCh38]
Chr3:150644461 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_174878.3(CLRN1):c.*1191T>C single nucleotide variant Usher syndrome type 3 [RCV001146595]|not provided [RCV001560907] Chr3:150926745 [GRCh38]
Chr3:150644532 [GRCh37]
Chr3:3q25.1		 likely benign
NC_000003.12:g.(?_150972446)_(150973009_?)del deletion not provided [RCV000796127] Chr3:150972446..150973009 [GRCh38]
Chr3:150690233..150690796 [GRCh37]
Chr3:3q25.1		 pathogenic
NM_174878.3(CLRN1):c.433+1G>A single nucleotide variant Retinitis pigmentosa 61 [RCV003467324]|Usher syndrome type 3 [RCV000791320]|not provided [RCV001387204] Chr3:150941581 [GRCh38]
Chr3:150659368 [GRCh37]
Chr3:3q25.1		 pathogenic
NM_174878.3(CLRN1):c.434-291T>A single nucleotide variant not provided [RCV000831682] Chr3:150928492 [GRCh38]
Chr3:150646279 [GRCh37]
Chr3:3q25.1		 benign
NM_174878.3(CLRN1):c.434-2A>T single nucleotide variant Retinitis pigmentosa [RCV000787816] Chr3:150928203 [GRCh38]
Chr3:150645990 [GRCh37]
Chr3:3q25.1		 likely pathogenic
NM_174878.3(CLRN1):c.*1181T>C single nucleotide variant Usher syndrome type 3 [RCV001146596] Chr3:150926755 [GRCh38]
Chr3:150644542 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_174878.3(CLRN1):c.*298T>C single nucleotide variant Usher syndrome type 3 [RCV001150856]|not provided [RCV004694940] Chr3:150927638 [GRCh38]
Chr3:150645425 [GRCh37]
Chr3:3q25.1		 uncertain significance
GRCh37/hg19 3q25.1(chr3:150647395-150665244)x1 copy number loss not provided [RCV000848268] Chr3:150647395..150665244 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_174878.3(CLRN1):c.254-2052G>C single nucleotide variant not provided [RCV000975857] Chr3:150943813 [GRCh38]
Chr3:150661600 [GRCh37]
Chr3:3q25.1		 likely benign
NM_174878.3(CLRN1):c.128G>T (p.Gly43Val) single nucleotide variant Usher syndrome type 3 [RCV000987346]|not provided [RCV001869342] Chr3:150972581 [GRCh38]
Chr3:150690368 [GRCh37]
Chr3:3q25.1		 pathogenic|likely pathogenic
GRCh37/hg19 3q25.1(chr3:150534295-151213925)x3 copy number gain not provided [RCV001005478] Chr3:150534295..151213925 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_174878.3(CLRN1):c.278dup (p.Val95fs) duplication not provided [RCV001227176] Chr3:150941736..150941737 [GRCh38]
Chr3:150659523..150659524 [GRCh37]
Chr3:3q25.1		 pathogenic
NM_174878.3(CLRN1):c.606T>G (p.Asn202Lys) single nucleotide variant Retinal dystrophy [RCV003887969]|Usher syndrome [RCV004690033]|not provided [RCV001246907] Chr3:150928029 [GRCh38]
Chr3:150645816 [GRCh37]
Chr3:3q25.1		 pathogenic|likely pathogenic|uncertain significance
NM_174878.3(CLRN1):c.692T>A (p.Met231Lys) single nucleotide variant not provided [RCV001213353] Chr3:150927943 [GRCh38]
Chr3:150645730 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_174878.3(CLRN1):c.185A>G (p.Gln62Arg) single nucleotide variant Usher syndrome type 3 [RCV001146710] Chr3:150972524 [GRCh38]
Chr3:150690311 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_174878.3(CLRN1):c.254-2A>G single nucleotide variant Retinitis pigmentosa 61 [RCV004570414]|Usher syndrome type 3 [RCV001199960] Chr3:150941763 [GRCh38]
Chr3:150659550 [GRCh37]
Chr3:3q25.1		 pathogenic|likely pathogenic
NM_174878.3(CLRN1):c.570G>A (p.Trp190Ter) single nucleotide variant not provided [RCV001202099] Chr3:150928065 [GRCh38]
Chr3:150645852 [GRCh37]
Chr3:3q25.1		 pathogenic
NM_174878.3(CLRN1):c.434-76dup duplication not provided [RCV001550116] Chr3:150928274..150928275 [GRCh38]
Chr3:150646061..150646062 [GRCh37]
Chr3:3q25.1		 likely benign
NM_174878.3(CLRN1):c.434-217A>G single nucleotide variant not provided [RCV001566589] Chr3:150928418 [GRCh38]
Chr3:150646205 [GRCh37]
Chr3:3q25.1		 likely benign
NM_174878.3(CLRN1):c.235A>T (p.Arg79Trp) single nucleotide variant Retinal dystrophy [RCV004814379] Chr3:150972474 [GRCh38]
Chr3:150690261 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_174878.3(CLRN1):c.253+225A>G single nucleotide variant not provided [RCV001635952] Chr3:150972231 [GRCh38]
Chr3:150690018 [GRCh37]
Chr3:3q25.1		 benign
NM_174878.3(CLRN1):c.254-2119C>G single nucleotide variant CLRN1-related disorder [RCV004754776]|not provided [RCV001585385] Chr3:150943880 [GRCh38]
Chr3:150661667 [GRCh37]
Chr3:3q25.1		 likely benign|uncertain significance
NM_174878.3(CLRN1):c.434-324A>G single nucleotide variant not provided [RCV001695931] Chr3:150928525 [GRCh38]
Chr3:150646312 [GRCh37]
Chr3:3q25.1		 benign
NM_174878.3(CLRN1):c.253+304T>C single nucleotide variant not provided [RCV001558298] Chr3:150972152 [GRCh38]
Chr3:150689939 [GRCh37]
Chr3:3q25.1		 likely benign
NM_174878.3(CLRN1):c.433+226T>C single nucleotide variant not provided [RCV001559671] Chr3:150941356 [GRCh38]
Chr3:150659143 [GRCh37]
Chr3:3q25.1		 likely benign
NM_174878.3(CLRN1):c.253+39G>T single nucleotide variant not provided [RCV001716804] Chr3:150972417 [GRCh38]
Chr3:150690204 [GRCh37]
Chr3:3q25.1		 benign
NM_174878.3(CLRN1):c.240C>G (p.Pro80=) single nucleotide variant not provided [RCV000943596] Chr3:150972469 [GRCh38]
Chr3:150690256 [GRCh37]
Chr3:3q25.1		 likely benign
NM_174878.3(CLRN1):c.285G>A (p.Val95=) single nucleotide variant not provided [RCV000931979] Chr3:150941730 [GRCh38]
Chr3:150659517 [GRCh37]
Chr3:3q25.1		 likely benign
NM_174878.3(CLRN1):c.460T>C (p.Leu154=) single nucleotide variant not provided [RCV000981068] Chr3:150928175 [GRCh38]
Chr3:150645962 [GRCh37]
Chr3:3q25.1		 likely benign
NM_174878.3(CLRN1):c.254-2052G>T single nucleotide variant not provided [RCV000906482] Chr3:150943813 [GRCh38]
Chr3:150661600 [GRCh37]
Chr3:3q25.1		 likely benign
NM_174878.3(CLRN1):c.*249G>A single nucleotide variant Usher syndrome type 3 [RCV001144739] Chr3:150927687 [GRCh38]
Chr3:150645474 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_174878.3(CLRN1):c.502A>T (p.Ile168Phe) single nucleotide variant Usher syndrome type 3 [RCV001144742]|not provided [RCV003769696] Chr3:150928133 [GRCh38]
Chr3:150645920 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_174878.3(CLRN1):c.434-3C>A single nucleotide variant Usher syndrome type 3 [RCV001146708] Chr3:150928204 [GRCh38]
Chr3:150645991 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_174878.3(CLRN1):c.*815T>C single nucleotide variant Usher syndrome type 3 [RCV001147512] Chr3:150927121 [GRCh38]
Chr3:150644908 [GRCh37]
Chr3:3q25.1		 uncertain significance
NC_000003.12:g.(?_150940471)_(150945689_?)del deletion not provided [RCV001031141] Chr3:150658258..150663476 [GRCh37]
Chr3:3q25.1		 likely pathogenic
NM_174878.3(CLRN1):c.434G>T (p.Gly145Val) single nucleotide variant Usher syndrome [RCV003389491]|not provided [RCV001240802] Chr3:150928201 [GRCh38]
Chr3:150645988 [GRCh37]
Chr3:3q25.1		 likely pathogenic|uncertain significance
NM_174878.3(CLRN1):c.40G>A (p.Gly14Arg) single nucleotide variant Usher syndrome type 3 [RCV001834037]|not provided [RCV001234958] Chr3:150972669 [GRCh38]
Chr3:150690456 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_174878.3(CLRN1):c.*35G>A single nucleotide variant not provided [RCV001556914] Chr3:150927901 [GRCh38]
Chr3:150645688 [GRCh37]
Chr3:3q25.1		 likely benign
NC_000003.12:g.150973036T>C single nucleotide variant not provided [RCV001574646] Chr3:150973036 [GRCh38]
Chr3:150690823 [GRCh37]
Chr3:3q25.1		 likely benign
NC_000003.12:g.150973012G>A single nucleotide variant not provided [RCV001689112] Chr3:150973012 [GRCh38]
Chr3:150690799 [GRCh37]
Chr3:3q25.1		 benign
GRCh37/hg19 3q13.31-26.31(chr3:116620308-172042292)x3 copy number gain not provided [RCV002472621] Chr3:116620308..172042292 [GRCh37]
Chr3:3q13.31-26.31		 pathogenic
GRCh37/hg19 3q25.1(chr3:150534296-150908849)x3 copy number gain not provided [RCV002473873] Chr3:150534296..150908849 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_174878.3(CLRN1):c.437C>T (p.Ser146Phe) single nucleotide variant Usher syndrome type 3 [RCV001832495]|not provided [RCV001054421] Chr3:150928198 [GRCh38]
Chr3:150645985 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_174878.3(CLRN1):c.254-2797_254-2796del deletion not provided [RCV001687466] Chr3:150944557..150944558 [GRCh38]
Chr3:150662344..150662345 [GRCh37]
Chr3:3q25.1		 benign
NM_174878.3(CLRN1):c.298A>G (p.Asn100Asp) single nucleotide variant not provided [RCV001054274] Chr3:150941717 [GRCh38]
Chr3:150659504 [GRCh37]
Chr3:3q25.1		 uncertain significance
GRCh37/hg19 3q22.3-26.1(chr3:138145289-162275610)x3 copy number gain See cases [RCV001194586] Chr3:138145289..162275610 [GRCh37]
Chr3:3q22.3-26.1		 pathogenic
NM_174878.3(CLRN1):c.65T>A (p.Leu22His) single nucleotide variant Usher syndrome type 3 [RCV001002692] Chr3:150972644 [GRCh38]
Chr3:150690431 [GRCh37]
Chr3:3q25.1		 pathogenic
NM_174878.3(CLRN1):c.254-2796del deletion not provided [RCV001534165] Chr3:150944557 [GRCh38]
Chr3:150662344 [GRCh37]
Chr3:3q25.1		 benign
NM_174878.3(CLRN1):c.*93T>C single nucleotide variant Usher syndrome type 3 [RCV001144740] Chr3:150927843 [GRCh38]
Chr3:150645630 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_174878.3(CLRN1):c.*9C>G single nucleotide variant Usher syndrome type 3 [RCV001144741] Chr3:150927927 [GRCh38]
Chr3:150645714 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_174878.3(CLRN1):c.349_358del (p.Ala117fs) deletion Usher syndrome type 3 [RCV001002951] Chr3:150941657..150941666 [GRCh38]
Chr3:150659444..150659453 [GRCh37]
Chr3:3q25.1		 pathogenic
NM_174878.3(CLRN1):c.151G>C (p.Gly51Arg) single nucleotide variant not provided [RCV001205168]|not specified [RCV003323816] Chr3:150972558 [GRCh38]
Chr3:150690345 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_174878.3(CLRN1):c.419T>A (p.Leu140Ter) single nucleotide variant not provided [RCV001050877] Chr3:150941596 [GRCh38]
Chr3:150659383 [GRCh37]
Chr3:3q25.1		 pathogenic
NM_174878.3(CLRN1):c.437C>A (p.Ser146Tyr) single nucleotide variant Usher syndrome type 3 [RCV001002950] Chr3:150928198 [GRCh38]
Chr3:150645985 [GRCh37]
Chr3:3q25.1		 likely pathogenic
NM_174878.3(CLRN1):c.400C>T (p.Pro134Ser) single nucleotide variant Inborn genetic diseases [RCV004033718]|Usher syndrome type 3 [RCV001828664]|not provided [RCV001207994] Chr3:150941615 [GRCh38]
Chr3:150659402 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_174878.3(CLRN1):c.66C>A (p.Leu22=) single nucleotide variant Usher syndrome type 3 [RCV001272454]|not provided [RCV001045381] Chr3:150972643 [GRCh38]
Chr3:150690430 [GRCh37]
Chr3:3q25.1		 likely benign|uncertain significance
NM_174878.3(CLRN1):c.*592G>C single nucleotide variant Usher syndrome type 3 [RCV001147513] Chr3:150927344 [GRCh38]
Chr3:150645131 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_174878.3(CLRN1):c.254-649T>G single nucleotide variant not provided [RCV001034749] Chr3:150942410 [GRCh38]
Chr3:150660197 [GRCh37]
Chr3:3q25.1		 pathogenic
GRCh37/hg19 3q25.1-25.2(chr3:149404255-152786331)x1 copy number loss not provided [RCV001005477] Chr3:149404255..152786331 [GRCh37]
Chr3:3q25.1-25.2		 pathogenic
NM_174878.3(CLRN1):c.*1032T>C single nucleotide variant Usher syndrome type 3 [RCV001146597] Chr3:150926904 [GRCh38]
Chr3:150644691 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_174878.3(CLRN1):c.411G>A (p.Leu137=) single nucleotide variant Usher syndrome type 3 [RCV001146709]|not provided [RCV002557143] Chr3:150941604 [GRCh38]
Chr3:150659391 [GRCh37]
Chr3:3q25.1		 likely benign|uncertain significance
NM_174878.3(CLRN1):c.*1027T>G single nucleotide variant Usher syndrome type 3 [RCV001147510]|not provided [RCV001563287] Chr3:150926909 [GRCh38]
Chr3:150644696 [GRCh37]
Chr3:3q25.1		 likely benign
NM_001195794.1(CLRN1):c.-141C>T single nucleotide variant Usher syndrome type 3 [RCV001147610] Chr3:150972849 [GRCh38]
Chr3:150690636 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_001195794.1(CLRN1):c.-186A>G single nucleotide variant Usher syndrome type 3 [RCV001147611] Chr3:150972894 [GRCh38]
Chr3:150690681 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_001195794.1(CLRN1):c.-229A>G single nucleotide variant Usher syndrome type 3 [RCV001147612] Chr3:150972937 [GRCh38]
Chr3:150690724 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_174878.3(CLRN1):c.92C>G (p.Pro31Arg) single nucleotide variant Usher syndrome type 3A [RCV001275855]|not provided [RCV001064474] Chr3:150972617 [GRCh38]
Chr3:150690404 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_174878.3(CLRN1):c.268C>G (p.Leu90Val) single nucleotide variant Usher syndrome type 3A [RCV001280039] Chr3:150941747 [GRCh38]
Chr3:150659534 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_174878.3(CLRN1):c.253+6T>C single nucleotide variant Retinitis pigmentosa 61 [RCV003471314]|not provided [RCV002284799] Chr3:150972450 [GRCh38]
Chr3:150690237 [GRCh37]
Chr3:3q25.1		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_174878.3(CLRN1):c.254-2186C>T single nucleotide variant CLRN1-related disorder [RCV003928821]|not provided [RCV001288125] Chr3:150943947 [GRCh38]
Chr3:150661734 [GRCh37]
Chr3:3q25.1		 likely benign
NM_174878.3(CLRN1):c.670A>G (p.Thr224Ala) single nucleotide variant Retinal dystrophy [RCV003888038]|Usher syndrome type 3 [RCV001836325]|not provided [RCV001340001] Chr3:150927965 [GRCh38]
Chr3:150645752 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_174878.3(CLRN1):c.24C>A (p.Ile8=) single nucleotide variant not provided [RCV001422744] Chr3:150972685 [GRCh38]
Chr3:150690472 [GRCh37]
Chr3:3q25.1		 likely benign
NM_174878.3(CLRN1):c.276A>G (p.Ala92=) single nucleotide variant not provided [RCV001422324] Chr3:150941739 [GRCh38]
Chr3:150659526 [GRCh37]
Chr3:3q25.1		 likely benign
NM_174878.3(CLRN1):c.244C>A (p.Arg82=) single nucleotide variant not provided [RCV001414592] Chr3:150972465 [GRCh38]
Chr3:150690252 [GRCh37]
Chr3:3q25.1		 likely benign
NM_174878.3(CLRN1):c.433+10A>G single nucleotide variant Usher syndrome type 3A [RCV001280036]|not provided [RCV001453956] Chr3:150941572 [GRCh38]
Chr3:150659359 [GRCh37]
Chr3:3q25.1		 likely benign|uncertain significance
NM_174878.3(CLRN1):c.188A>C (p.Tyr63Ser) single nucleotide variant Usher syndrome [RCV002274178]|Usher syndrome type 3A [RCV001280869] Chr3:150972521 [GRCh38]
Chr3:150690308 [GRCh37]
Chr3:3q25.1		 pathogenic|likely pathogenic
NM_174878.3(CLRN1):c.58T>C (p.Cys20Arg) single nucleotide variant Usher syndrome type 3 [RCV001830146]|not provided [RCV001298009] Chr3:150972651 [GRCh38]
Chr3:150690438 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_174878.3(CLRN1):c.380C>G (p.Pro127Arg) single nucleotide variant Melnick-Fraser syndrome [RCV001375119]|not provided [RCV002550204] Chr3:150941635 [GRCh38]
Chr3:150659422 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_174878.3(CLRN1):c.406G>A (p.Gly136Arg) single nucleotide variant Retinitis pigmentosa [RCV002486066]|Usher syndrome type 3A [RCV001280037]|not provided [RCV002542940] Chr3:150941609 [GRCh38]
Chr3:150659396 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_174878.3(CLRN1):c.208G>T (p.Gly70Cys) single nucleotide variant Usher syndrome type 3A [RCV001280040]|not provided [RCV001372027] Chr3:150972501 [GRCh38]
Chr3:150690288 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_174878.3(CLRN1):c.58T>A (p.Cys20Ser) single nucleotide variant not provided [RCV001350711] Chr3:150972651 [GRCh38]
Chr3:150690438 [GRCh37]
Chr3:3q25.1		 uncertain significance
GRCh37/hg19 3q22.3-26.1(chr3:138173683-162494699) copy number gain Global developmental delay [RCV001352648] Chr3:138173683..162494699 [GRCh37]
Chr3:3q22.3-26.1		 pathogenic
NM_174878.3(CLRN1):c.151_152delinsAT (p.Gly51Met) indel Retinal dystrophy [RCV004815778] Chr3:150972557..150972558 [GRCh38]
Chr3:150690344..150690345 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_174878.3(CLRN1):c.322C>T (p.Leu108Phe) single nucleotide variant Retinitis pigmentosa [RCV002480918]|Usher syndrome type 3A [RCV001280038]|not provided [RCV002541728] Chr3:150941693 [GRCh38]
Chr3:150659480 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_174878.3(CLRN1):c.240C>T (p.Pro80=) single nucleotide variant not provided [RCV001457564] Chr3:150972469 [GRCh38]
Chr3:150690256 [GRCh37]
Chr3:3q25.1		 likely benign
NM_174878.3(CLRN1):c.117C>T (p.Leu39=) single nucleotide variant CLRN1-related disorder [RCV003938892]|not provided [RCV001496385] Chr3:150972592 [GRCh38]
Chr3:150690379 [GRCh37]
Chr3:3q25.1		 likely benign
NM_174878.3(CLRN1):c.254-15T>G single nucleotide variant not provided [RCV001492531] Chr3:150941776 [GRCh38]
Chr3:150659563 [GRCh37]
Chr3:3q25.1		 likely benign
NM_174878.3(CLRN1):c.93G>A (p.Pro31=) single nucleotide variant not provided [RCV001437033] Chr3:150972616 [GRCh38]
Chr3:150690403 [GRCh37]
Chr3:3q25.1		 likely benign
NM_174878.3(CLRN1):c.162G>C (p.Leu54=) single nucleotide variant not provided [RCV001393422] Chr3:150972547 [GRCh38]
Chr3:150690334 [GRCh37]
Chr3:3q25.1		 likely benign
NM_174878.3(CLRN1):c.414C>T (p.Tyr138=) single nucleotide variant not provided [RCV001435110] Chr3:150941601 [GRCh38]
Chr3:150659388 [GRCh37]
Chr3:3q25.1		 likely benign
NM_174878.3(CLRN1):c.669A>G (p.Thr223=) single nucleotide variant not provided [RCV001493614] Chr3:150927966 [GRCh38]
Chr3:150645753 [GRCh37]
Chr3:3q25.1		 likely benign
NM_174878.3(CLRN1):c.561C>T (p.Thr187=) single nucleotide variant not provided [RCV001453201] Chr3:150928074 [GRCh38]
Chr3:150645861 [GRCh37]
Chr3:3q25.1		 likely benign
NM_174878.3(CLRN1):c.18G>A (p.Lys6=) single nucleotide variant not provided [RCV001419876] Chr3:150972691 [GRCh38]
Chr3:150690478 [GRCh37]
Chr3:3q25.1		 likely benign
NM_174878.3(CLRN1):c.12A>G (p.Gln4=) single nucleotide variant not provided [RCV001443299] Chr3:150972697 [GRCh38]
Chr3:150690484 [GRCh37]
Chr3:3q25.1		 likely benign
NM_174878.3(CLRN1):c.189C>T (p.Tyr63=) single nucleotide variant not provided [RCV001440945] Chr3:150972520 [GRCh38]
Chr3:150690307 [GRCh37]
Chr3:3q25.1		 likely benign
NM_174878.3(CLRN1):c.31dup (p.Cys11fs) duplication Retinitis pigmentosa 61 [RCV003469761]|not provided [RCV001389583] Chr3:150972677..150972678 [GRCh38]
Chr3:150690464..150690465 [GRCh37]
Chr3:3q25.1		 pathogenic|likely pathogenic
NM_174878.3(CLRN1):c.141C>G (p.Val47=) single nucleotide variant not provided [RCV001425910] Chr3:150972568 [GRCh38]
Chr3:150690355 [GRCh37]
Chr3:3q25.1		 likely benign
NM_174878.3(CLRN1):c.82T>C (p.Leu28=) single nucleotide variant not provided [RCV001444530] Chr3:150972627 [GRCh38]
Chr3:150690414 [GRCh37]
Chr3:3q25.1		 likely benign
NM_174878.3(CLRN1):c.606T>C (p.Asn202=) single nucleotide variant not provided [RCV001441825] Chr3:150928029 [GRCh38]
Chr3:150645816 [GRCh37]
Chr3:3q25.1		 likely benign
NM_174878.3(CLRN1):c.615A>T (p.Leu205=) single nucleotide variant not provided [RCV001447297] Chr3:150928020 [GRCh38]
Chr3:150645807 [GRCh37]
Chr3:3q25.1		 likely benign
NM_174878.3(CLRN1):c.292del (p.His98fs) deletion not provided [RCV001386767] Chr3:150941723 [GRCh38]
Chr3:150659510 [GRCh37]
Chr3:3q25.1		 pathogenic
NM_174878.3(CLRN1):c.33C>T (p.Cys11=) single nucleotide variant not provided [RCV001425926] Chr3:150972676 [GRCh38]
Chr3:150690463 [GRCh37]
Chr3:3q25.1		 likely benign
NM_174878.3(CLRN1):c.433+765T>G single nucleotide variant not provided [RCV001612697] Chr3:150940817 [GRCh38]
Chr3:150658604 [GRCh37]
Chr3:3q25.1		 benign
NM_174878.3(CLRN1):c.148_149insTGTC (p.Ser50fs) insertion Retinal dystrophy [RCV004815586]|Retinitis pigmentosa [RCV002506728]|Usher syndrome [RCV004770188]|not provided [RCV001682645] Chr3:150972560..150972561 [GRCh38]
Chr3:150690347..150690348 [GRCh37]
Chr3:3q25.1		 pathogenic
NM_174878.3(CLRN1):c.66C>T (p.Leu22=) single nucleotide variant not provided [RCV001462387] Chr3:150972643 [GRCh38]
Chr3:150690430 [GRCh37]
Chr3:3q25.1		 likely benign
NM_174878.3(CLRN1):c.306T>C (p.Ile102=) single nucleotide variant not provided [RCV001502989] Chr3:150941709 [GRCh38]
Chr3:150659496 [GRCh37]
Chr3:3q25.1		 likely benign
NM_174878.3(CLRN1):c.225G>T (p.Gly75=) single nucleotide variant not provided [RCV001486510] Chr3:150972484 [GRCh38]
Chr3:150690271 [GRCh37]
Chr3:3q25.1		 likely benign
NM_174878.3(CLRN1):c.111T>C (p.Thr37=) single nucleotide variant not provided [RCV001460620] Chr3:150972598 [GRCh38]
Chr3:150690385 [GRCh37]
Chr3:3q25.1		 likely benign
NM_174878.3(CLRN1):c.160C>T (p.Leu54=) single nucleotide variant not provided [RCV001501198] Chr3:150972549 [GRCh38]
Chr3:150690336 [GRCh37]
Chr3:3q25.1		 likely benign
NM_174878.3(CLRN1):c.393G>T (p.Leu131=) single nucleotide variant not provided [RCV001453627] Chr3:150941622 [GRCh38]
Chr3:150659409 [GRCh37]
Chr3:3q25.1		 likely benign
NM_174878.3(CLRN1):c.612C>T (p.Leu204=) single nucleotide variant not provided [RCV001478357] Chr3:150928023 [GRCh38]
Chr3:150645810 [GRCh37]
Chr3:3q25.1		 likely benign
NM_174878.3(CLRN1):c.195T>G (p.Leu65=) single nucleotide variant not provided [RCV001450446] Chr3:150972514 [GRCh38]
Chr3:150690301 [GRCh37]
Chr3:3q25.1		 likely benign
NM_174878.3(CLRN1):c.540G>T (p.Thr180=) single nucleotide variant not provided [RCV001482212] Chr3:150928095 [GRCh38]
Chr3:150645882 [GRCh37]
Chr3:3q25.1		 likely benign
NM_174878.3(CLRN1):c.54T>C (p.Phe18=) single nucleotide variant not provided [RCV001471225] Chr3:150972655 [GRCh38]
Chr3:150690442 [GRCh37]
Chr3:3q25.1		 likely benign
NM_174878.3(CLRN1):c.594T>C (p.Val198=) single nucleotide variant not provided [RCV001460978] Chr3:150928041 [GRCh38]
Chr3:150645828 [GRCh37]
Chr3:3q25.1		 likely benign
NM_174878.3(CLRN1):c.612C>G (p.Leu204=) single nucleotide variant not provided [RCV001499613] Chr3:150928023 [GRCh38]
Chr3:150645810 [GRCh37]
Chr3:3q25.1		 likely benign
NM_174878.3(CLRN1):c.418T>C (p.Leu140=) single nucleotide variant not provided [RCV001450506] Chr3:150941597 [GRCh38]
Chr3:150659384 [GRCh37]
Chr3:3q25.1		 likely benign
NM_174878.3(CLRN1):c.487C>T (p.His163Tyr) single nucleotide variant not provided [RCV003105185] Chr3:150928148 [GRCh38]
Chr3:150645935 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_174878.3(CLRN1):c.356T>C (p.Phe119Ser) single nucleotide variant Usher syndrome type 3A [RCV001733774]|not provided [RCV003771896] Chr3:150941659 [GRCh38]
Chr3:150659446 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_174878.3(CLRN1):c.509A>G (p.Asn170Ser) single nucleotide variant not provided [RCV001765863] Chr3:150928126 [GRCh38]
Chr3:150645913 [GRCh37]
Chr3:3q25.1		 uncertain significance
GRCh37/hg19 3q23-25.32(chr3:142729607-157921084)x3 copy number gain Brachycephaly [RCV001801182] Chr3:142729607..157921084 [GRCh37]
Chr3:3q23-25.32		 pathogenic
GRCh37/hg19 3q24-26.1(chr3:143439359-165252122)x1 copy number loss not provided [RCV001795847] Chr3:143439359..165252122 [GRCh37]
Chr3:3q24-26.1		 pathogenic
NM_174878.3(CLRN1):c.254-2122A>G single nucleotide variant not provided [RCV001761450] Chr3:150943883 [GRCh38]
Chr3:150661670 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_174878.3(CLRN1):c.401C>G (p.Pro134Arg) single nucleotide variant Retinal dystrophy [RCV004818741] Chr3:150941614 [GRCh38]
Chr3:150659401 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_174878.3(CLRN1):c.190G>A (p.Gly64Arg) single nucleotide variant Retinitis pigmentosa 61 [RCV003470922]|Usher syndrome [RCV001806792]|not provided [RCV002541387] Chr3:150972519 [GRCh38]
Chr3:150690306 [GRCh37]
Chr3:3q25.1		 pathogenic|likely pathogenic
NM_174878.3(CLRN1):c.458T>G (p.Ile153Arg) single nucleotide variant Retinal dystrophy [RCV004817428] Chr3:150928177 [GRCh38]
Chr3:150645964 [GRCh37]
Chr3:3q25.1		 likely pathogenic
NM_174878.3(CLRN1):c.542A>G (p.Gln181Arg) single nucleotide variant not provided [RCV002022749] Chr3:150928093 [GRCh38]
Chr3:150645880 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_174878.3(CLRN1):c.697T>C (p.Ter233Arg) single nucleotide variant Usher syndrome type 3A [RCV001823290] Chr3:150927938 [GRCh38]
Chr3:150645725 [GRCh37]
Chr3:3q25.1		 likely pathogenic
NM_174878.3(CLRN1):c.181del (p.Met61fs) deletion not provided [RCV001946586] Chr3:150972528 [GRCh38]
Chr3:150690315 [GRCh37]
Chr3:3q25.1		 pathogenic
NM_174878.3(CLRN1):c.557C>A (p.Thr186Asn) single nucleotide variant not provided [RCV002039377] Chr3:150928078 [GRCh38]
Chr3:150645865 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_174878.3(CLRN1):c.494del (p.Leu164_Ser165insTer) deletion not provided [RCV001945904] Chr3:150928141 [GRCh38]
Chr3:150645928 [GRCh37]
Chr3:3q25.1		 pathogenic
GRCh37/hg19 3q25.1(chr3:150641476-150665244) copy number loss not specified [RCV002053376] Chr3:150641476..150665244 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_174878.3(CLRN1):c.221G>A (p.Cys74Tyr) single nucleotide variant not provided [RCV001913805] Chr3:150972488 [GRCh38]
Chr3:150690275 [GRCh37]
Chr3:3q25.1		 uncertain significance
GRCh37/hg19 3q24-25.33(chr3:145486960-160504834) copy number gain not specified [RCV002053375] Chr3:145486960..160504834 [GRCh37]
Chr3:3q24-25.33		 pathogenic
NM_174878.3(CLRN1):c.83T>G (p.Leu28Trp) single nucleotide variant not provided [RCV001948573] Chr3:150972626 [GRCh38]
Chr3:150690413 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_174878.3(CLRN1):c.165C>A (p.Asp55Glu) single nucleotide variant not provided [RCV001968065] Chr3:150972544 [GRCh38]
Chr3:150690331 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_174878.3(CLRN1):c.584G>A (p.Cys195Tyr) single nucleotide variant not provided [RCV002020671] Chr3:150928051 [GRCh38]
Chr3:150645838 [GRCh37]
Chr3:3q25.1		 uncertain significance
NC_000003.11:g.(?_150645723)_(150690495_?)dup duplication not provided [RCV001925599] Chr3:150645723..150690495 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_174878.3(CLRN1):c.513T>A (p.Tyr171Ter) single nucleotide variant Retinitis pigmentosa 61 [RCV003471164]|not provided [RCV001962952] Chr3:150928122 [GRCh38]
Chr3:150645909 [GRCh37]
Chr3:3q25.1		 pathogenic|likely pathogenic
NM_174878.3(CLRN1):c.83T>C (p.Leu28Ser) single nucleotide variant not provided [RCV001959395] Chr3:150972626 [GRCh38]
Chr3:150690413 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_174878.3(CLRN1):c.331T>A (p.Leu111Ile) single nucleotide variant not provided [RCV002013672] Chr3:150941684 [GRCh38]
Chr3:150659471 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_174878.3(CLRN1):c.290T>A (p.Ile97Asn) single nucleotide variant not provided [RCV001883760] Chr3:150941725 [GRCh38]
Chr3:150659512 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_174878.3(CLRN1):c.401C>T (p.Pro134Leu) single nucleotide variant Retinal dystrophy [RCV004815709]|not provided [RCV001880953] Chr3:150941614 [GRCh38]
Chr3:150659401 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_174878.3(CLRN1):c.682G>A (p.Ala228Thr) single nucleotide variant not provided [RCV001992548] Chr3:150927953 [GRCh38]
Chr3:150645740 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_174878.3(CLRN1):c.41G>A (p.Gly14Glu) single nucleotide variant not provided [RCV001922470] Chr3:150972668 [GRCh38]
Chr3:150690455 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_174878.3(CLRN1):c.563C>A (p.Ser188Ter) single nucleotide variant not provided [RCV001993130] Chr3:150928072 [GRCh38]
Chr3:150645859 [GRCh37]
Chr3:3q25.1		 pathogenic
NM_174878.3(CLRN1):c.269T>A (p.Leu90His) single nucleotide variant not provided [RCV002033686] Chr3:150941746 [GRCh38]
Chr3:150659533 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_174878.3(CLRN1):c.433+1G>C single nucleotide variant not provided [RCV001994728] Chr3:150941581 [GRCh38]
Chr3:150659368 [GRCh37]
Chr3:3q25.1		 pathogenic
NM_174878.3(CLRN1):c.565T>C (p.Phe189Leu) single nucleotide variant not provided [RCV001931415] Chr3:150928070 [GRCh38]
Chr3:150645857 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_174878.3(CLRN1):c.8G>A (p.Ser3Asn) single nucleotide variant not provided [RCV001958105] Chr3:150972701 [GRCh38]
Chr3:150690488 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_174878.3(CLRN1):c.637T>C (p.Phe213Leu) single nucleotide variant not provided [RCV001876946] Chr3:150927998 [GRCh38]
Chr3:150645785 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_174878.3(CLRN1):c.253+1G>A single nucleotide variant not provided [RCV002016936] Chr3:150972455 [GRCh38]
Chr3:150690242 [GRCh37]
Chr3:3q25.1		 likely pathogenic
NM_174878.3(CLRN1):c.354C>A (p.Phe118Leu) single nucleotide variant not provided [RCV002018086] Chr3:150941661 [GRCh38]
Chr3:150659448 [GRCh37]
Chr3:3q25.1		 uncertain significance
NC_000003.11:g.(?_148447967)_(151176497_?)del deletion Glycogen storage disease XV [RCV003120787] Chr3:148447967..151176497 [GRCh37]
Chr3:3q24-25.1		 pathogenic
NM_174878.3(CLRN1):c.254-553G>A single nucleotide variant not provided [RCV002049739] Chr3:150942314 [GRCh38]
Chr3:150660101 [GRCh37]
Chr3:3q25.1		 likely benign
NM_174878.3(CLRN1):c.294C>A (p.His98Gln) single nucleotide variant not provided [RCV001937743] Chr3:150941721 [GRCh38]
Chr3:150659508 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_174878.3(CLRN1):c.75G>A (p.Val25=) single nucleotide variant not provided [RCV002088246] Chr3:150972634 [GRCh38]
Chr3:150690421 [GRCh37]
Chr3:3q25.1		 likely benign
NM_174878.3(CLRN1):c.433+7A>G single nucleotide variant not provided [RCV002073863] Chr3:150941575 [GRCh38]
Chr3:150659362 [GRCh37]
Chr3:3q25.1		 likely benign
NM_174878.3(CLRN1):c.246G>A (p.Arg82=) single nucleotide variant not provided [RCV002073469] Chr3:150972463 [GRCh38]
Chr3:150690250 [GRCh37]
Chr3:3q25.1		 likely benign
NM_174878.3(CLRN1):c.405A>G (p.Leu135=) single nucleotide variant not provided [RCV002171053] Chr3:150941610 [GRCh38]
Chr3:150659397 [GRCh37]
Chr3:3q25.1		 likely benign
NM_174878.3(CLRN1):c.675T>C (p.Asn225=) single nucleotide variant not provided [RCV002134590] Chr3:150927960 [GRCh38]
Chr3:150645747 [GRCh37]
Chr3:3q25.1		 likely benign
NM_174878.3(CLRN1):c.186G>A (p.Gln62=) single nucleotide variant not provided [RCV002209151] Chr3:150972523 [GRCh38]
Chr3:150690310 [GRCh37]
Chr3:3q25.1		 likely benign
NM_174878.3(CLRN1):c.321C>T (p.Ile107=) single nucleotide variant not provided [RCV002079944] Chr3:150941694 [GRCh38]
Chr3:150659481 [GRCh37]
Chr3:3q25.1		 likely benign
NM_174878.3(CLRN1):c.495A>G (p.Ser165=) single nucleotide variant not provided [RCV002187199] Chr3:150928140 [GRCh38]
Chr3:150645927 [GRCh37]
Chr3:3q25.1		 likely benign
NM_174878.3(CLRN1):c.254-7T>C single nucleotide variant not provided [RCV002079325] Chr3:150941768 [GRCh38]
Chr3:150659555 [GRCh37]
Chr3:3q25.1		 likely benign
NM_174878.3(CLRN1):c.253+7A>G single nucleotide variant not provided [RCV002193476] Chr3:150972449 [GRCh38]
Chr3:150690236 [GRCh37]
Chr3:3q25.1		 likely benign
NM_174878.3(CLRN1):c.357C>T (p.Phe119=) single nucleotide variant not provided [RCV002138593] Chr3:150941658 [GRCh38]
Chr3:150659445 [GRCh37]
Chr3:3q25.1		 likely benign
NM_174878.3(CLRN1):c.254-8A>G single nucleotide variant not provided [RCV002178576] Chr3:150941769 [GRCh38]
Chr3:150659556 [GRCh37]
Chr3:3q25.1		 likely benign
NM_174878.3(CLRN1):c.663A>G (p.Ala221=) single nucleotide variant not provided [RCV002155438] Chr3:150927972 [GRCh38]
Chr3:150645759 [GRCh37]
Chr3:3q25.1		 likely benign
NM_174878.3(CLRN1):c.489C>T (p.His163=) single nucleotide variant not provided [RCV002121726] Chr3:150928146 [GRCh38]
Chr3:150645933 [GRCh37]
Chr3:3q25.1		 likely benign
NM_174878.3(CLRN1):c.253+7A>T single nucleotide variant not provided [RCV002198861] Chr3:150972449 [GRCh38]
Chr3:150690236 [GRCh37]
Chr3:3q25.1		 likely benign
NM_174878.3(CLRN1):c.433+9A>C single nucleotide variant not provided [RCV002203022] Chr3:150941573 [GRCh38]
Chr3:150659360 [GRCh37]
Chr3:3q25.1		 likely benign
NM_174878.3(CLRN1):c.564A>T (p.Ser188=) single nucleotide variant not provided [RCV002180158] Chr3:150928071 [GRCh38]
Chr3:150645858 [GRCh37]
Chr3:3q25.1		 likely benign
NM_174878.3(CLRN1):c.254-19A>G single nucleotide variant not provided [RCV002083122] Chr3:150941780 [GRCh38]
Chr3:150659567 [GRCh37]
Chr3:3q25.1		 likely benign
NM_174878.3(CLRN1):c.220T>A (p.Cys74Ser) single nucleotide variant Retinitis pigmentosa 61 [RCV004797196] Chr3:150972489 [GRCh38]
Chr3:150690276 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_174878.3(CLRN1):c.500A>G (p.Lys167Arg) single nucleotide variant Inborn genetic diseases [RCV003101658]|not provided [RCV002287976] Chr3:150928135 [GRCh38]
Chr3:150645922 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_174878.3(CLRN1):c.144T>C (p.Asn48=) single nucleotide variant not provided [RCV002858293] Chr3:150972565 [GRCh38]
Chr3:150690352 [GRCh37]
Chr3:3q25.1		 likely benign
GRCh37/hg19 3q25.1(chr3:150546825-150878912)x4 copy number gain not provided [RCV002473467] Chr3:150546825..150878912 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_174878.3(CLRN1):c.385G>A (p.Glu129Lys) single nucleotide variant Inborn genetic diseases [RCV002860717] Chr3:150941630 [GRCh38]
Chr3:150659417 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_174878.3(CLRN1):c.578T>G (p.Phe193Cys) single nucleotide variant not provided [RCV003032893] Chr3:150928057 [GRCh38]
Chr3:150645844 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_174878.3(CLRN1):c.434-7G>A single nucleotide variant not provided [RCV002681666] Chr3:150928208 [GRCh38]
Chr3:150645995 [GRCh37]
Chr3:3q25.1		 likely benign
NM_174878.3(CLRN1):c.591del (p.Phe197fs) deletion Retinitis pigmentosa 61 [RCV003465824]|not provided [RCV002750125] Chr3:150928044 [GRCh38]
Chr3:150645831 [GRCh37]
Chr3:3q25.1		 pathogenic
NM_174878.3(CLRN1):c.400C>G (p.Pro134Ala) single nucleotide variant not provided [RCV002690328] Chr3:150941615 [GRCh38]
Chr3:150659402 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_174878.3(CLRN1):c.236G>A (p.Arg79Lys) single nucleotide variant not provided [RCV003033274] Chr3:150972473 [GRCh38]
Chr3:150690260 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_174878.3(CLRN1):c.693G>A (p.Met231Ile) single nucleotide variant Inborn genetic diseases [RCV002753833] Chr3:150927942 [GRCh38]
Chr3:150645729 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_174878.3(CLRN1):c.668C>T (p.Thr223Ile) single nucleotide variant Retinal dystrophy [RCV003889158]|not provided [RCV002755690] Chr3:150927967 [GRCh38]
Chr3:150645754 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_174878.3(CLRN1):c.492C>T (p.Leu164=) single nucleotide variant not provided [RCV002991743] Chr3:150928143 [GRCh38]
Chr3:150645930 [GRCh37]
Chr3:3q25.1		 likely benign
NM_174878.3(CLRN1):c.654T>G (p.Ser218=) single nucleotide variant not provided [RCV002926714] Chr3:150927981 [GRCh38]
Chr3:150645768 [GRCh37]
Chr3:3q25.1		 likely benign
NM_174878.3(CLRN1):c.284T>G (p.Val95Gly) single nucleotide variant not provided [RCV003018685] Chr3:150941731 [GRCh38]
Chr3:150659518 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_174878.3(CLRN1):c.282A>C (p.Pro94=) single nucleotide variant not provided [RCV002639079] Chr3:150941733 [GRCh38]
Chr3:150659520 [GRCh37]
Chr3:3q25.1		 likely benign
NM_174878.3(CLRN1):c.510T>C (p.Asn170=) single nucleotide variant not provided [RCV003036300] Chr3:150928125 [GRCh38]
Chr3:150645912 [GRCh37]
Chr3:3q25.1		 likely benign
NM_174878.3(CLRN1):c.253+16A>G single nucleotide variant not provided [RCV002619643] Chr3:150972440 [GRCh38]
Chr3:150690227 [GRCh37]
Chr3:3q25.1		 likely benign
NM_174878.3(CLRN1):c.349G>A (p.Ala117Thr) single nucleotide variant not provided [RCV003079692] Chr3:150941666 [GRCh38]
Chr3:150659453 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_174878.3(CLRN1):c.364A>T (p.Asn122Tyr) single nucleotide variant not provided [RCV002620791] Chr3:150941651 [GRCh38]
Chr3:150659438 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_174878.3(CLRN1):c.253+19T>A single nucleotide variant not provided [RCV002846951] Chr3:150972437 [GRCh38]
Chr3:150690224 [GRCh37]
Chr3:3q25.1		 likely benign
NM_174878.3(CLRN1):c.527A>T (p.Tyr176Phe) single nucleotide variant not provided [RCV002619145] Chr3:150928108 [GRCh38]
Chr3:150645895 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_174878.3(CLRN1):c.63C>T (p.Ala21=) single nucleotide variant not provided [RCV002695871] Chr3:150972646 [GRCh38]
Chr3:150690433 [GRCh37]
Chr3:3q25.1		 likely benign
NM_174878.3(CLRN1):c.567C>G (p.Phe189Leu) single nucleotide variant not provided [RCV003077625] Chr3:150928068 [GRCh38]
Chr3:150645855 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_174878.3(CLRN1):c.387A>C (p.Glu129Asp) single nucleotide variant not provided [RCV003078040] Chr3:150941628 [GRCh38]
Chr3:150659415 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_174878.3(CLRN1):c.488_492del (p.His163fs) deletion not provided [RCV003017994] Chr3:150928143..150928147 [GRCh38]
Chr3:150645930..150645934 [GRCh37]
Chr3:3q25.1		 pathogenic
NM_174878.3(CLRN1):c.528T>C (p.Tyr176=) single nucleotide variant not provided [RCV002885542] Chr3:150928107 [GRCh38]
Chr3:150645894 [GRCh37]
Chr3:3q25.1		 likely benign
NM_174878.3(CLRN1):c.674A>G (p.Asn225Ser) single nucleotide variant not provided [RCV002761662] Chr3:150927961 [GRCh38]
Chr3:150645748 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_174878.3(CLRN1):c.528T>A (p.Tyr176Ter) single nucleotide variant not provided [RCV002886253] Chr3:150928107 [GRCh38]
Chr3:150645894 [GRCh37]
Chr3:3q25.1		 pathogenic
NM_174878.3(CLRN1):c.462G>A (p.Leu154=) single nucleotide variant not provided [RCV002933341] Chr3:150928173 [GRCh38]
Chr3:150645960 [GRCh37]
Chr3:3q25.1		 likely benign
NM_174878.3(CLRN1):c.326T>C (p.Ile109Thr) single nucleotide variant Inborn genetic diseases [RCV004612238]|not provided [RCV002701289] Chr3:150941689 [GRCh38]
Chr3:150659476 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_174878.3(CLRN1):c.139G>A (p.Val47Ile) single nucleotide variant not provided [RCV003022567] Chr3:150972570 [GRCh38]
Chr3:150690357 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_174878.3(CLRN1):c.88A>T (p.Thr30Ser) single nucleotide variant not provided [RCV002931856] Chr3:150972621 [GRCh38]
Chr3:150690408 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_174878.3(CLRN1):c.160C>G (p.Leu54Val) single nucleotide variant not provided [RCV003082442] Chr3:150972549 [GRCh38]
Chr3:150690336 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_174878.3(CLRN1):c.253+8G>T single nucleotide variant not provided [RCV002890093] Chr3:150972448 [GRCh38]
Chr3:150690235 [GRCh37]
Chr3:3q25.1		 likely benign
NM_174878.3(CLRN1):c.94T>C (p.Leu32=) single nucleotide variant not provided [RCV003005948] Chr3:150972615 [GRCh38]
Chr3:150690402 [GRCh37]
Chr3:3q25.1		 likely benign
NM_174878.3(CLRN1):c.524C>A (p.Thr175Asn) single nucleotide variant not provided [RCV002801036] Chr3:150928111 [GRCh38]
Chr3:150645898 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_174878.3(CLRN1):c.295G>A (p.Val99Ile) single nucleotide variant not provided [RCV002602501] Chr3:150941720 [GRCh38]
Chr3:150659507 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_174878.3(CLRN1):c.176del (p.Gly59fs) deletion not provided [RCV002651755] Chr3:150972533 [GRCh38]
Chr3:150690320 [GRCh37]
Chr3:3q25.1		 pathogenic
NM_174878.3(CLRN1):c.149C>A (p.Ser50Ter) single nucleotide variant Retinitis pigmentosa 61 [RCV003466001]|not provided [RCV002651756] Chr3:150972560 [GRCh38]
Chr3:150690347 [GRCh37]
Chr3:3q25.1		 pathogenic
NM_174878.3(CLRN1):c.244C>G (p.Arg82Gly) single nucleotide variant not provided [RCV003087019] Chr3:150972465 [GRCh38]
Chr3:150690252 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_174878.3(CLRN1):c.304A>G (p.Ile102Val) single nucleotide variant Inborn genetic diseases [RCV002940249] Chr3:150941711 [GRCh38]
Chr3:150659498 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_174878.3(CLRN1):c.609G>A (p.Gly203=) single nucleotide variant not provided [RCV002676137] Chr3:150928026 [GRCh38]
Chr3:150645813 [GRCh37]
Chr3:3q25.1		 likely benign
NM_174878.3(CLRN1):c.451G>A (p.Val151Ile) single nucleotide variant not provided [RCV003047752] Chr3:150928184 [GRCh38]
Chr3:150645971 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_174878.3(CLRN1):c.671C>T (p.Thr224Ile) single nucleotide variant Inborn genetic diseases [RCV003065627]|not provided [RCV003065626] Chr3:150927964 [GRCh38]
Chr3:150645751 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_174878.3(CLRN1):c.253+10A>G single nucleotide variant not provided [RCV003009797] Chr3:150972446 [GRCh38]
Chr3:150690233 [GRCh37]
Chr3:3q25.1		 likely benign
NM_174878.3(CLRN1):c.190G>C (p.Gly64Arg) single nucleotide variant Retinitis pigmentosa 61 [RCV004571222]|not provided [RCV002716617] Chr3:150972519 [GRCh38]
Chr3:150690306 [GRCh37]
Chr3:3q25.1		 pathogenic|likely pathogenic
NM_174878.3(CLRN1):c.319A>G (p.Ile107Val) single nucleotide variant not provided [RCV003089457] Chr3:150941696 [GRCh38]
Chr3:150659483 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_174878.3(CLRN1):c.156G>A (p.Gln52=) single nucleotide variant not provided [RCV002899151] Chr3:150972553 [GRCh38]
Chr3:150690340 [GRCh37]
Chr3:3q25.1		 likely benign
NM_174878.3(CLRN1):c.359T>C (p.Met120Thr) single nucleotide variant not provided [RCV002717255] Chr3:150941656 [GRCh38]
Chr3:150659443 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_174878.3(CLRN1):c.31T>C (p.Cys11Arg) single nucleotide variant not provided [RCV002746011] Chr3:150972678 [GRCh38]
Chr3:150690465 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_174878.3(CLRN1):c.589T>C (p.Phe197Leu) single nucleotide variant not provided [RCV002604475] Chr3:150928046 [GRCh38]
Chr3:150645833 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_174878.3(CLRN1):c.70G>A (p.Val24Ile) single nucleotide variant not provided [RCV002635430] Chr3:150972639 [GRCh38]
Chr3:150690426 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_174878.3(CLRN1):c.423C>T (p.Ser141=) single nucleotide variant not provided [RCV003051810] Chr3:150941592 [GRCh38]
Chr3:150659379 [GRCh37]
Chr3:3q25.1		 likely benign
NM_174878.3(CLRN1):c.245G>A (p.Arg82Gln) single nucleotide variant not provided [RCV003072464] Chr3:150972464 [GRCh38]
Chr3:150690251 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_174878.3(CLRN1):c.196T>C (p.Phe66Leu) single nucleotide variant not provided [RCV003072540] Chr3:150972513 [GRCh38]
Chr3:150690300 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_174878.3(CLRN1):c.254-7del deletion not provided [RCV003051852] Chr3:150941768 [GRCh38]
Chr3:150659555 [GRCh37]
Chr3:3q25.1		 likely benign
NM_174878.3(CLRN1):c.494C>T (p.Ser165Leu) single nucleotide variant not provided [RCV003069409] Chr3:150928141 [GRCh38]
Chr3:150645928 [GRCh37]
Chr3:3q25.1		 likely pathogenic
NM_174878.3(CLRN1):c.379C>A (p.Pro127Thr) single nucleotide variant not provided [RCV003093343] Chr3:150941636 [GRCh38]
Chr3:150659423 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_174878.3(CLRN1):c.539C>T (p.Thr180Met) single nucleotide variant Inborn genetic diseases [RCV003072836]|not provided [RCV003072837] Chr3:150928096 [GRCh38]
Chr3:150645883 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_174878.3(CLRN1):c.433+3A>G single nucleotide variant not provided [RCV003073413] Chr3:150941579 [GRCh38]
Chr3:150659366 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_174878.3(CLRN1):c.476T>C (p.Val159Ala) single nucleotide variant Inborn genetic diseases [RCV003219424] Chr3:150928159 [GRCh38]
Chr3:150645946 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_174878.3(CLRN1):c.337A>G (p.Met113Val) single nucleotide variant Inborn genetic diseases [RCV003210506] Chr3:150941678 [GRCh38]
Chr3:150659465 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_174878.3(CLRN1):c.271A>T (p.Lys91Ter) single nucleotide variant Retinitis pigmentosa 61 [RCV003468484] Chr3:150941744 [GRCh38]
Chr3:150659531 [GRCh37]
Chr3:3q25.1		 likely pathogenic
NM_174878.3(CLRN1):c.209dup (p.Val71fs) duplication Retinitis pigmentosa 61 [RCV003468485] Chr3:150972499..150972500 [GRCh38]
Chr3:150690286..150690287 [GRCh37]
Chr3:3q25.1		 likely pathogenic
NM_174878.3(CLRN1):c.468C>T (p.Ala156=) single nucleotide variant not provided [RCV003692029] Chr3:150928167 [GRCh38]
Chr3:150645954 [GRCh37]
Chr3:3q25.1		 likely benign
NM_174878.3(CLRN1):c.496G>T (p.Glu166Ter) single nucleotide variant Retinitis pigmentosa 61 [RCV003468490] Chr3:150928139 [GRCh38]
Chr3:150645926 [GRCh37]
Chr3:3q25.1		 likely pathogenic
NM_174878.3(CLRN1):c.150_151del (p.Gly51fs) deletion Retinitis pigmentosa 61 [RCV003468482] Chr3:150972558..150972559 [GRCh38]
Chr3:150690345..150690346 [GRCh37]
Chr3:3q25.1		 likely pathogenic
NM_174878.3(CLRN1):c.591dup (p.Val198fs) duplication Retinitis pigmentosa 61 [RCV003468487] Chr3:150928043..150928044 [GRCh38]
Chr3:150645830..150645831 [GRCh37]
Chr3:3q25.1		 likely pathogenic
NM_174878.3(CLRN1):c.129del (p.Ala44fs) deletion Retinitis pigmentosa 61 [RCV003468481] Chr3:150972580 [GRCh38]
Chr3:150690367 [GRCh37]
Chr3:3q25.1		 likely pathogenic
NM_174878.3(CLRN1):c.433+1G>T single nucleotide variant Retinitis pigmentosa 61 [RCV003468488] Chr3:150941581 [GRCh38]
Chr3:150659368 [GRCh37]
Chr3:3q25.1		 likely pathogenic
NM_174878.3(CLRN1):c.109dup (p.Thr37fs) duplication Retinitis pigmentosa 61 [RCV003468489] Chr3:150972599..150972600 [GRCh38]
Chr3:150690386..150690387 [GRCh37]
Chr3:3q25.1		 likely pathogenic
Single allele duplication not provided [RCV003448680] Chr3:140154329..197847235 [GRCh37]
Chr3:3q23-29		 pathogenic
NM_174878.3(CLRN1):c.95T>A (p.Leu32Ter) single nucleotide variant Retinitis pigmentosa 61 [RCV003468480]|not provided [RCV003661066] Chr3:150972614 [GRCh38]
Chr3:150690401 [GRCh37]
Chr3:3q25.1		 pathogenic|likely pathogenic
NM_174878.3(CLRN1):c.195_201dup (p.Gly68fs) duplication Retinitis pigmentosa 61 [RCV003468483] Chr3:150972507..150972508 [GRCh38]
Chr3:150690294..150690295 [GRCh37]
Chr3:3q25.1		 likely pathogenic
NM_174878.3(CLRN1):c.555T>A (p.Tyr185Ter) single nucleotide variant Retinitis pigmentosa 61 [RCV003468486]|not provided [RCV003689104] Chr3:150928080 [GRCh38]
Chr3:150645867 [GRCh37]
Chr3:3q25.1		 pathogenic|likely pathogenic
NM_174878.3(CLRN1):c.297C>A (p.Val99=) single nucleotide variant not provided [RCV003578140] Chr3:150941718 [GRCh38]
Chr3:150659505 [GRCh37]
Chr3:3q25.1		 likely benign
NM_174878.3(CLRN1):c.434-19C>T single nucleotide variant not provided [RCV003696255] Chr3:150928220 [GRCh38]
Chr3:150646007 [GRCh37]
Chr3:3q25.1		 likely benign
NM_174878.3(CLRN1):c.696C>T (p.Tyr232=) single nucleotide variant not provided [RCV003579020] Chr3:150927939 [GRCh38]
Chr3:150645726 [GRCh37]
Chr3:3q25.1		 likely benign
NM_174878.3(CLRN1):c.254-2A>T single nucleotide variant not provided [RCV003690167] Chr3:150941763 [GRCh38]
Chr3:150659550 [GRCh37]
Chr3:3q25.1		 likely pathogenic
NM_174878.3(CLRN1):c.433+9A>G single nucleotide variant not provided [RCV003687748] Chr3:150941573 [GRCh38]
Chr3:150659360 [GRCh37]
Chr3:3q25.1		 likely benign
NM_174878.3(CLRN1):c.60T>A (p.Cys20Ter) single nucleotide variant not provided [RCV003716085] Chr3:150972649 [GRCh38]
Chr3:150690436 [GRCh37]
Chr3:3q25.1		 pathogenic
NM_174878.3(CLRN1):c.433+20T>G single nucleotide variant not provided [RCV003691256] Chr3:150941562 [GRCh38]
Chr3:150659349 [GRCh37]
Chr3:3q25.1		 likely benign
NM_174878.3(CLRN1):c.609G>T (p.Gly203=) single nucleotide variant not provided [RCV003576584] Chr3:150928026 [GRCh38]
Chr3:150645813 [GRCh37]
Chr3:3q25.1		 likely benign
NM_174878.3(CLRN1):c.253+17T>G single nucleotide variant not provided [RCV003691879] Chr3:150972439 [GRCh38]
Chr3:150690226 [GRCh37]
Chr3:3q25.1		 likely benign
NM_174878.3(CLRN1):c.254-8_254-4del deletion not provided [RCV003550064] Chr3:150941765..150941769 [GRCh38]
Chr3:150659552..150659556 [GRCh37]
Chr3:3q25.1		 likely benign
NM_174878.3(CLRN1):c.639C>A (p.Phe213Leu) single nucleotide variant Retinal dystrophy [RCV004816136] Chr3:150927996 [GRCh38]
Chr3:150645783 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_174878.3(CLRN1):c.253+14G>A single nucleotide variant not provided [RCV003740388] Chr3:150972442 [GRCh38]
Chr3:150690229 [GRCh37]
Chr3:3q25.1		 likely benign
NM_174878.3(CLRN1):c.81C>T (p.Ala27=) single nucleotide variant not provided [RCV003550218] Chr3:150972628 [GRCh38]
Chr3:150690415 [GRCh37]
Chr3:3q25.1		 likely benign
NM_174878.3(CLRN1):c.433+19C>T single nucleotide variant not provided [RCV003670183] Chr3:150941563 [GRCh38]
Chr3:150659350 [GRCh37]
Chr3:3q25.1		 likely benign
NM_174878.3(CLRN1):c.127G>C (p.Gly43Arg) single nucleotide variant not provided [RCV003671446] Chr3:150972582 [GRCh38]
Chr3:150690369 [GRCh37]
Chr3:3q25.1		 pathogenic
NM_174878.3(CLRN1):c.22A>G (p.Ile8Val) single nucleotide variant not provided [RCV003666481] Chr3:150972687 [GRCh38]
Chr3:150690474 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_174878.3(CLRN1):c.619C>A (p.Arg207=) single nucleotide variant not provided [RCV003838587] Chr3:150928016 [GRCh38]
Chr3:150645803 [GRCh37]
Chr3:3q25.1		 likely benign
NM_174878.3(CLRN1):c.561C>A (p.Thr187=) single nucleotide variant not provided [RCV003850192] Chr3:150928074 [GRCh38]
Chr3:150645861 [GRCh37]
Chr3:3q25.1		 likely benign
NM_174878.3(CLRN1):c.433+18C>A single nucleotide variant not provided [RCV003832477] Chr3:150941564 [GRCh38]
Chr3:150659351 [GRCh37]
Chr3:3q25.1		 likely benign
NM_174878.3(CLRN1):c.366T>C (p.Asn122=) single nucleotide variant not provided [RCV003731364] Chr3:150941649 [GRCh38]
Chr3:150659436 [GRCh37]
Chr3:3q25.1		 likely benign
NM_174878.3(CLRN1):c.434-12C>G single nucleotide variant not provided [RCV003846387] Chr3:150928213 [GRCh38]
Chr3:150646000 [GRCh37]
Chr3:3q25.1		 likely benign
NM_174878.3(CLRN1):c.433+15C>A single nucleotide variant not provided [RCV003554038] Chr3:150941567 [GRCh38]
Chr3:150659354 [GRCh37]
Chr3:3q25.1		 likely benign
NM_174878.3(CLRN1):c.556del (p.Thr186fs) deletion not provided [RCV003568750] Chr3:150928079 [GRCh38]
Chr3:150645866 [GRCh37]
Chr3:3q25.1		 pathogenic
NM_174878.3(CLRN1):c.588T>C (p.Phe196=) single nucleotide variant not provided [RCV003721128] Chr3:150928047 [GRCh38]
Chr3:150645834 [GRCh37]
Chr3:3q25.1		 likely benign
NM_174878.3(CLRN1):c.253+11A>G single nucleotide variant not provided [RCV003730819] Chr3:150972445 [GRCh38]
Chr3:150690232 [GRCh37]
Chr3:3q25.1		 likely benign
NM_174878.3(CLRN1):c.486T>C (p.His162=) single nucleotide variant not provided [RCV003867164] Chr3:150928149 [GRCh38]
Chr3:150645936 [GRCh37]
Chr3:3q25.1		 likely benign
NM_174878.3(CLRN1):c.294C>T (p.His98=) single nucleotide variant not provided [RCV003865451] Chr3:150941721 [GRCh38]
Chr3:150659508 [GRCh37]
Chr3:3q25.1		 likely benign
NM_174878.3(CLRN1):c.434-16G>T single nucleotide variant not provided [RCV003866769] Chr3:150928217 [GRCh38]
Chr3:150646004 [GRCh37]
Chr3:3q25.1		 likely benign
NM_174878.3(CLRN1):c.138C>T (p.Leu46=) single nucleotide variant not provided [RCV003679278] Chr3:150972571 [GRCh38]
Chr3:150690358 [GRCh37]
Chr3:3q25.1		 likely benign
NM_174878.3(CLRN1):c.60T>C (p.Cys20=) single nucleotide variant not provided [RCV003710363] Chr3:150972649 [GRCh38]
Chr3:150690436 [GRCh37]
Chr3:3q25.1		 likely benign
NM_174878.3(CLRN1):c.138del (p.Val47fs) deletion Retinitis pigmentosa 61 [RCV004574122]|not provided [RCV003567939] Chr3:150972571 [GRCh38]
Chr3:150690358 [GRCh37]
Chr3:3q25.1		 pathogenic|likely pathogenic
NM_174878.3(CLRN1):c.636G>A (p.Gln212=) single nucleotide variant not provided [RCV003709094] Chr3:150927999 [GRCh38]
Chr3:150645786 [GRCh37]
Chr3:3q25.1		 likely benign
NM_174878.3(CLRN1):c.153G>C (p.Gly51=) single nucleotide variant not provided [RCV003704325] Chr3:150972556 [GRCh38]
Chr3:150690343 [GRCh37]
Chr3:3q25.1		 likely benign
NM_174878.3(CLRN1):c.433+1086A>G single nucleotide variant Retinal dystrophy [RCV003890837] Chr3:150940496 [GRCh38]
Chr3:150658283 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_174878.3(CLRN1):c.350C>T (p.Ala117Val) single nucleotide variant Retinal dystrophy [RCV003890840] Chr3:150941665 [GRCh38]
Chr3:150659452 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_174878.3(CLRN1):c.253+2T>C single nucleotide variant Retinal dystrophy [RCV003890841] Chr3:150972454 [GRCh38]
Chr3:150690241 [GRCh37]
Chr3:3q25.1		 pathogenic
NM_174878.3(CLRN1):c.433+1072G>T single nucleotide variant Retinal dystrophy [RCV003890839] Chr3:150940510 [GRCh38]
Chr3:150658297 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_174878.3(CLRN1):c.254-2216C>A single nucleotide variant CLRN1-related disorder [RCV003916808] Chr3:150943977 [GRCh38]
Chr3:150661764 [GRCh37]
Chr3:3q25.1		 benign
NM_174878.3(CLRN1):c.100A>G (p.Ile34Val) single nucleotide variant Retinal dystrophy [RCV003890842] Chr3:150972609 [GRCh38]
Chr3:150690396 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_174878.3(CLRN1):c.433+1083A>G single nucleotide variant Retinal dystrophy [RCV003890838] Chr3:150940499 [GRCh38]
Chr3:150658286 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_174878.3(CLRN1):c.185A>C (p.Gln62Pro) single nucleotide variant Inborn genetic diseases [RCV004437315] Chr3:150972524 [GRCh38]
Chr3:150690311 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_174878.3(CLRN1):c.692T>C (p.Met231Thr) single nucleotide variant Inborn genetic diseases [RCV004437317] Chr3:150927943 [GRCh38]
Chr3:150645730 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_174878.3(CLRN1):c.186G>C (p.Gln62His) single nucleotide variant Inborn genetic diseases [RCV004437316] Chr3:150972523 [GRCh38]
Chr3:150690310 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_174878.3(CLRN1):c.152G>T (p.Gly51Val) single nucleotide variant Inborn genetic diseases [RCV004613157] Chr3:150972557 [GRCh38]
Chr3:150690344 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_174878.3(CLRN1):c.55del (p.Ala19fs) deletion Retinitis pigmentosa 61 [RCV004575667] Chr3:150972654 [GRCh38]
Chr3:150690441 [GRCh37]
Chr3:3q25.1		 likely pathogenic
NM_174878.3(CLRN1):c.190_200dup (p.His67fs) duplication Retinitis pigmentosa 61 [RCV004575669] Chr3:150972508..150972509 [GRCh38]
Chr3:150690295..150690296 [GRCh37]
Chr3:3q25.1		 likely pathogenic
NM_174878.3(CLRN1):c.341del (p.Val114fs) deletion Usher syndrome type 3A [RCV004697321] Chr3:150941674 [GRCh38]
Chr3:150659461 [GRCh37]
Chr3:3q25.1		 likely pathogenic
NM_174878.3(CLRN1):c.254-2117G>C single nucleotide variant not provided [RCV004778832] Chr3:150943878 [GRCh38]
Chr3:150661665 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_174878.3(CLRN1):c.151G>A (p.Gly51Arg) single nucleotide variant not specified [RCV004766477] Chr3:150972558 [GRCh38]
Chr3:150690345 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_174878.3(CLRN1):c.254-2139G>A single nucleotide variant CLRN1-related disorder [RCV004755494] Chr3:150943900 [GRCh38]
Chr3:150661687 [GRCh37]
Chr3:3q25.1		 likely benign
NM_174878.3(CLRN1):c.149_152delinsGTCCAAT (p.Ser50_Gly51delinsCysProMet) indel not specified [RCV004766822] Chr3:150972557..150972560 [GRCh38]
Chr3:150690344..150690347 [GRCh37]
Chr3:3q25.1		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1039
Count of miRNA genes:640
Interacting mature miRNAs:719
Transcripts:ENST00000295911, ENST00000327047, ENST00000328863, ENST00000468836, ENST00000472224, ENST00000485607
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
1300026BP36_HBlood pressure QTL 36 (human)4.04Blood pressurehypertension susceptibility3135720453161720453Human
1298415BP24_HBlood pressure QTL 24 (human)2.9Blood pressurehypertension susceptibility3135720453161720453Human
597469011GWAS1565085_Hnon-alcoholic fatty liver disease severity measurement QTL GWAS1565085 (human)0.000003non-alcoholic fatty liver disease severity measurementliver disease severity measurement (CMO:0002155)3150940053150940054Human

Markers in Region
PMC328092P3  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373150,660,296 - 150,660,502UniSTSGRCh37
Build 363152,142,986 - 152,143,192RGDNCBI36
Celera3149,073,254 - 149,073,460RGD
Cytogenetic Map3q25UniSTS
HuRef3148,033,586 - 148,033,792UniSTS
PMC328092P4  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373150,659,313 - 150,659,664UniSTSGRCh37
Build 363152,142,003 - 152,142,354RGDNCBI36
Celera3149,072,271 - 149,072,622RGD
Cytogenetic Map3q25UniSTS
HuRef3148,032,603 - 148,032,954UniSTS
PMC328092P5  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373150,645,809 - 150,646,099UniSTSGRCh37
Build 363152,128,499 - 152,128,789RGDNCBI36
Celera3149,058,759 - 149,059,049RGD
Cytogenetic Map3q25UniSTS
HuRef3148,019,085 - 148,019,375UniSTS
PMC328092P6  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373150,644,354 - 150,644,692UniSTSGRCh37
Build 363152,127,044 - 152,127,382RGDNCBI36
Celera3149,057,304 - 149,057,642RGD
Cytogenetic Map3q25UniSTS
HuRef3148,017,630 - 148,017,968UniSTS
PMC328092P7  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373150,659,327 - 150,659,524UniSTSGRCh37
Build 363152,142,017 - 152,142,214RGDNCBI36
Celera3149,072,285 - 149,072,482RGD
Cytogenetic Map3q25UniSTS
HuRef3148,032,617 - 148,032,814UniSTS
USH3A__5035  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373150,644,323 - 150,645,040UniSTSGRCh37
Build 363152,127,013 - 152,127,730RGDNCBI36
Celera3149,057,273 - 149,057,990RGD
HuRef3148,017,599 - 148,018,316UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
nervous system
renal system
reproductive system
respiratory system
sensory system
visual system
178 273 696 261 1533 680 361 1 98 644 72 401 1614 1555 1309 197 1016 228 27 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_009168 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001195794 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001256819 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_052995 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_174878 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_046380 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC020636 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF388366 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF388368 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF482697 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF495717 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC074970 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC074971 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM666773 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471052 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068275 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM626132 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM626133 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM626134 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM626135 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM626136 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000295911   ⟹   ENSP00000295911
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3150,926,163 - 150,944,236 (-)Ensembl
Ensembl Acc Id: ENST00000327047   ⟹   ENSP00000322280
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3150,926,567 - 150,972,727 (-)Ensembl
Ensembl Acc Id: ENST00000328863   ⟹   ENSP00000329158
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3150,927,936 - 150,972,708 (-)Ensembl
Ensembl Acc Id: ENST00000468836   ⟹   ENSP00000419892
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3150,928,061 - 150,972,684 (-)Ensembl
Ensembl Acc Id: ENST00000472224
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3150,941,415 - 150,972,714 (-)Ensembl
Ensembl Acc Id: ENST00000485607
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3150,928,181 - 150,944,236 (-)Ensembl
Ensembl Acc Id: ENST00000644099   ⟹   ENSP00000494762
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3150,940,481 - 150,972,549 (-)Ensembl
Ensembl Acc Id: ENST00000645441   ⟹   ENSP00000496637
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3150,942,590 - 150,972,550 (-)Ensembl
RefSeq Acc Id: NM_001195794   ⟹   NP_001182723
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383150,926,567 - 150,972,999 (-)NCBI
GRCh373150,643,950 - 150,690,786 (-)ENTREZGENE
HuRef3148,017,226 - 148,064,192 (-)ENTREZGENE
CHM1_13150,607,712 - 150,654,110 (-)NCBI
T2T-CHM13v2.03153,677,654 - 153,724,083 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001256819   ⟹   NP_001243748
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383150,926,567 - 150,972,727 (-)NCBI
GRCh373150,643,950 - 150,690,786 (-)NCBI
HuRef3148,017,226 - 148,064,192 (-)NCBI
CHM1_13150,607,712 - 150,654,110 (-)NCBI
T2T-CHM13v2.03153,677,654 - 153,723,811 (-)NCBI
Sequence:
RefSeq Acc Id: NM_052995   ⟹   NP_443721
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383150,926,163 - 150,944,236 (-)NCBI
GRCh373150,643,950 - 150,690,786 (-)ENTREZGENE
Build 363152,126,640 - 152,144,713 (-)NCBI Archive
HuRef3148,017,226 - 148,064,192 (-)ENTREZGENE
CHM1_13150,607,308 - 150,625,381 (-)NCBI
T2T-CHM13v2.03153,677,250 - 153,695,335 (-)NCBI
Sequence:
RefSeq Acc Id: NM_174878   ⟹   NP_777367
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383150,926,567 - 150,972,727 (-)NCBI
GRCh373150,643,950 - 150,690,786 (-)ENTREZGENE
Build 363152,127,044 - 152,173,476 (-)NCBI Archive
HuRef3148,017,226 - 148,064,192 (-)ENTREZGENE
CHM1_13150,607,712 - 150,654,110 (-)NCBI
T2T-CHM13v2.03153,677,654 - 153,723,811 (-)NCBI
Sequence:
RefSeq Acc Id: NR_046380
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383150,926,567 - 150,972,727 (-)NCBI
GRCh373150,643,950 - 150,690,786 (-)NCBI
HuRef3148,017,226 - 148,064,192 (-)NCBI
CHM1_13150,607,712 - 150,654,110 (-)NCBI
T2T-CHM13v2.03153,677,654 - 153,723,811 (-)NCBI
Sequence:
RefSeq Acc Id: NP_443721   ⟸   NM_052995
- Peptide Label: isoform c
- UniProtKB: P58418 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_777367   ⟸   NM_174878
- Peptide Label: isoform a
- UniProtKB: P58418 (UniProtKB/Swiss-Prot),   E1ACU9 (UniProtKB/Swiss-Prot),   D3DNJ3 (UniProtKB/Swiss-Prot),   Q8N6A9 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001182723   ⟸   NM_001195794
- Peptide Label: isoform d
- UniProtKB: P58418 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001243748   ⟸   NM_001256819
- Peptide Label: isoform e
- UniProtKB: C9JYI2 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000295911   ⟸   ENST00000295911
Ensembl Acc Id: ENSP00000419892   ⟸   ENST00000468836
Ensembl Acc Id: ENSP00000322280   ⟸   ENST00000327047
Ensembl Acc Id: ENSP00000329158   ⟸   ENST00000328863
Ensembl Acc Id: ENSP00000494762   ⟸   ENST00000644099
Ensembl Acc Id: ENSP00000496637   ⟸   ENST00000645441

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P58418-F1-model_v2 AlphaFold P58418 1-232 view protein structure

Promoters
RGD ID:6866000
Promoter ID:EPDNEW_H6165
Type:initiation region
Name:CLRN1_1
Description:clarin 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H6166  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh383150,972,727 - 150,972,787EPDNEW
RGD ID:6866002
Promoter ID:EPDNEW_H6166
Type:multiple initiation site
Name:CLRN1_2
Description:clarin 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H6165  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh383150,973,029 - 150,973,089EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:12605 AgrOrtholog
COSMIC CLRN1 COSMIC
Ensembl Genes ENSG00000163646 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000295911 ENTREZGENE
  ENST00000295911.6 UniProtKB/Swiss-Prot
  ENST00000327047 ENTREZGENE
  ENST00000327047.6 UniProtKB/Swiss-Prot
  ENST00000328863 ENTREZGENE
  ENST00000328863.8 UniProtKB/Swiss-Prot
  ENST00000468836 ENTREZGENE
  ENST00000468836.2 UniProtKB/TrEMBL
  ENST00000644099.1 UniProtKB/TrEMBL
  ENST00000645441.1 UniProtKB/TrEMBL
GTEx ENSG00000163646 GTEx
HGNC ID HGNC:12605 ENTREZGENE
Human Proteome Map CLRN1 Human Proteome Map
InterPro Clarin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:7401 UniProtKB/Swiss-Prot
NCBI Gene 7401 ENTREZGENE
OMIM 606397 OMIM
PANTHER CLARIN-1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR31548 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA37231 PharmGKB
UniProt A0A2R8Y8A4_HUMAN UniProtKB/TrEMBL
  C9JYI2 ENTREZGENE, UniProtKB/TrEMBL
  CLRN1_HUMAN UniProtKB/Swiss-Prot
  D3DNJ3 ENTREZGENE
  E1ACU9 ENTREZGENE
  E1ACV0_HUMAN UniProtKB/TrEMBL
  E1ACV1_HUMAN UniProtKB/TrEMBL
  P58418 ENTREZGENE
  Q8N6A9 ENTREZGENE
UniProt Secondary D3DNJ3 UniProtKB/Swiss-Prot
  E1ACU9 UniProtKB/Swiss-Prot
  Q8N6A9 UniProtKB/Swiss-Prot