RBP3 (retinol binding protein 3) - Rat Genome Database

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Gene: RBP3 (retinol binding protein 3) Homo sapiens
Analyze
Symbol: RBP3
Name: retinol binding protein 3
RGD ID: 735986
HGNC Page HGNC:9921
Description: Predicted to enable retinol binding activity. Predicted to be involved in retinoid metabolic process and visual perception. Located in extracellular space. Implicated in retinitis pigmentosa 66.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: D10S64; D10S65; D10S66; interphotoreceptor retinoid-binding protein; interstitial retinol binding protein 3; interstitial retinol-binding protein; interstitial retinol-binding protein 3; IRBP; RBPI; retinol binding protein 3, interstitial; retinol-binding protein 3; retinol-binding protein 3, interstitial; RP66
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
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
GRCh381047,348,363 - 47,357,881 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1047,348,363 - 47,357,881 (+)EnsemblGRCh38hg38GRCh38
GRCh371048,381,481 - 48,390,999 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361048,001,493 - 48,010,997 (-)NCBINCBI36Build 36hg18NCBI36
Build 341048,001,486 - 48,011,005NCBI
Celera1044,805,391 - 44,814,895 (-)NCBICelera
Cytogenetic Map10q11.22NCBI
HuRef1043,133,968 - 43,143,472 (-)NCBIHuRef
CHM1_11048,546,535 - 48,556,039 (-)NCBICHM1_1
T2T-CHM13v2.01048,239,660 - 48,249,178 (+)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

Biological Process

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
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. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
3. Key enzymes of the retinoid (visual) cycle in vertebrate retina. Kiser PD, etal., Biochim Biophys Acta. 2012 Jan;1821(1):137-51. Epub 2011 Apr 5.
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
8. Photoreceptor degeneration: genetic and mechanistic dissection of a complex trait. Wright AF, etal., Nat Rev Genet. 2010 Apr;11(4):273-84. doi: 10.1038/nrg2717.
Additional References at PubMed
PMID:2303470   PMID:2402443   PMID:2542268   PMID:2792773   PMID:2907505   PMID:3170584   PMID:3455009   PMID:3743780   PMID:3827838   PMID:8702792   PMID:11161734   PMID:11511084  
PMID:12477932   PMID:15710417   PMID:15713799   PMID:17286855   PMID:18266969   PMID:19074801   PMID:19193895   PMID:19823802   PMID:20301590   PMID:21067480   PMID:21613504   PMID:21697133  
PMID:21873635   PMID:23486466   PMID:23882694   PMID:24769233   PMID:24963161   PMID:25766589   PMID:26472337   PMID:31270273   PMID:32296183   PMID:35384245   PMID:35852358   PMID:36901838  
PMID:37806543  


Genomics

Comparative Map Data
RBP3
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381047,348,363 - 47,357,881 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1047,348,363 - 47,357,881 (+)EnsemblGRCh38hg38GRCh38
GRCh371048,381,481 - 48,390,999 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361048,001,493 - 48,010,997 (-)NCBINCBI36Build 36hg18NCBI36
Build 341048,001,486 - 48,011,005NCBI
Celera1044,805,391 - 44,814,895 (-)NCBICelera
Cytogenetic Map10q11.22NCBI
HuRef1043,133,968 - 43,143,472 (-)NCBIHuRef
CHM1_11048,546,535 - 48,556,039 (-)NCBICHM1_1
T2T-CHM13v2.01048,239,660 - 48,249,178 (+)NCBIT2T-CHM13v2.0
Rbp3
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391433,675,960 - 33,686,176 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1433,675,960 - 33,686,173 (+)EnsemblGRCm39 Ensembl
GRCm381433,954,003 - 33,964,219 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1433,954,003 - 33,964,216 (+)EnsemblGRCm38mm10GRCm38
MGSCv371434,767,208 - 34,777,402 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361432,783,114 - 32,793,308 (+)NCBIMGSCv36mm8
Celera1430,220,252 - 30,230,440 (+)NCBICelera
Cytogenetic Map14BNCBI
cM Map1420.8NCBI
Rbp3
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8169,273,787 - 9,282,255 (+)NCBIGRCr8
mRatBN7.2169,267,538 - 9,276,006 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl169,267,538 - 9,276,006 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx169,287,011 - 9,295,469 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01610,431,722 - 10,440,180 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0169,282,080 - 9,290,538 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01610,277,775 - 10,286,243 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1610,277,775 - 10,286,243 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0168,598,417 - 8,606,885 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4169,578,549 - 9,587,017 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1169,581,408 - 9,587,667 (+)NCBI
Celera165,934,735 - 5,943,197 (-)NCBICelera
Cytogenetic Map16p16NCBI
Rbp3
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555562,217,440 - 2,225,501 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049555562,217,528 - 2,225,369 (+)NCBIChiLan1.0ChiLan1.0
RBP3
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2859,952,369 - 59,971,880 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11059,949,644 - 59,977,154 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01046,543,196 - 46,558,978 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
RBP3
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1434,974,559 - 34,983,460 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl434,974,638 - 34,982,907 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha434,938,826 - 34,947,174 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0435,334,972 - 35,343,320 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl435,335,051 - 35,343,320 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1435,166,726 - 35,175,057 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0435,347,836 - 35,356,183 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0435,855,515 - 35,863,870 (-)NCBIUU_Cfam_GSD_1.0
Rbp3
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440721381,319,474 - 81,330,738 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365547,329,028 - 7,338,074 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365547,329,155 - 7,340,434 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
RBP3
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1488,490,013 - 88,504,510 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11488,491,701 - 88,503,388 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21496,117,157 - 96,130,134 (-)NCBISscrofa10.2Sscrofa10.2susScr3
RBP3
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1944,111,494 - 44,124,352 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl944,114,562 - 44,123,932 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660483,882,027 - 3,896,363 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0

Variants

.
Variants in RBP3
976 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_002900.3(RBP3):c.3238G>A (p.Asp1080Asn) single nucleotide variant Retinitis pigmentosa 66 [RCV000043517]|not provided [RCV001852909] Chr10:47353508 [GRCh38]
Chr10:48385854 [GRCh37]
Chr10:10q11.22
pathogenic
GRCh38/hg38 10q11.22-11.23(chr10:45710242-50151325)x1 copy number loss See cases [RCV000052312] Chr10:45710242..50151325 [GRCh38]
Chr10:46205690..51911085 [GRCh37]
Chr10:45525696..51581091 [NCBI36]
Chr10:10q11.22-11.23
pathogenic
GRCh38/hg38 10q11.22-11.23(chr10:45931517-49929364)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052314]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052314]|See cases [RCV000052314] Chr10:45931517..49929364 [GRCh38]
Chr10:47006954..51636253 [GRCh37]
Chr10:46404919..51306259 [NCBI36]
Chr10:10q11.22-11.23
pathogenic
GRCh38/hg38 10q11.21-21.2(chr10:42335305-60284876)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052506]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052506]|See cases [RCV000052506] Chr10:42335305..60284876 [GRCh38]
Chr10:42830753..62044634 [GRCh37]
Chr10:42150759..61714640 [NCBI36]
Chr10:10q11.21-21.2
pathogenic
NM_002900.2(RBP3):c.3586C>T (p.Arg1196Cys) single nucleotide variant Malignant melanoma [RCV000068946] Chr10:47357299 [GRCh38]
Chr10:48382063 [GRCh37]
Chr10:48002069 [NCBI36]
Chr10:10q11.22
not provided
NM_002900.2(RBP3):c.1080C>T (p.Ser360=) single nucleotide variant Malignant melanoma [RCV000068947] Chr10:47349564 [GRCh38]
Chr10:48389798 [GRCh37]
Chr10:48009804 [NCBI36]
Chr10:10q11.22
not provided
NM_002900.3(RBP3):c.1631G>A (p.Arg544His) single nucleotide variant RBP3-related disorder [RCV003974966]|Retinitis pigmentosa 66 [RCV000206963]|Retinitis pigmentosa [RCV001106782]|not provided [RCV000966384]|not specified [RCV000080036] Chr10:47350115 [GRCh38]
Chr10:48389247 [GRCh37]
Chr10:10q11.22
benign|likely benign|uncertain significance
NM_002900.3(RBP3):c.3681G>C (p.Lys1227Asn) single nucleotide variant Retinal dystrophy [RCV004815936] Chr10:47357394 [GRCh38]
Chr10:48381968 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.837G>A (p.Thr279=) single nucleotide variant Retinal dystrophy [RCV003888614]|Retinitis pigmentosa 66 [RCV001795291]|Retinitis pigmentosa [RCV000300475]|not provided [RCV001517121]|not specified [RCV000173287] Chr10:47349321 [GRCh38]
Chr10:48390041 [GRCh37]
Chr10:10q11.22
benign|likely benign
NM_002900.3(RBP3):c.2650G>A (p.Val884Met) single nucleotide variant Retinal dystrophy [RCV003888613]|Retinitis pigmentosa [RCV001106685]|Retinitis pigmentosa [RCV002500453]|not provided [RCV000891521]|not specified [RCV000173286] Chr10:47351134 [GRCh38]
Chr10:48388228 [GRCh37]
Chr10:10q11.22
benign|likely benign
NM_002900.3(RBP3):c.1200G>A (p.Ala400=) single nucleotide variant not provided [RCV000173288] Chr10:47349684 [GRCh38]
Chr10:48389678 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.1514A>T (p.His505Leu) single nucleotide variant Retinitis pigmentosa 66 [RCV000206920]|Retinitis pigmentosa [RCV001107413]|not provided [RCV000173289] Chr10:47349998 [GRCh38]
Chr10:48389364 [GRCh37]
Chr10:10q11.22
conflicting interpretations of pathogenicity|uncertain significance
NM_002900.3(RBP3):c.1093G>A (p.Glu365Lys) single nucleotide variant Retinal dystrophy [RCV003888615]|not provided [RCV000173290] Chr10:47349577 [GRCh38]
Chr10:48389785 [GRCh37]
Chr10:10q11.22
likely benign|uncertain significance
NM_002900.3(RBP3):c.2168C>T (p.Pro723Leu) single nucleotide variant RBP3-related disorder [RCV003927582]|Retinitis pigmentosa 66 [RCV000206940]|Retinitis pigmentosa [RCV001103698]|not provided [RCV000966383]|not specified [RCV000173291] Chr10:47350652 [GRCh38]
Chr10:48388710 [GRCh37]
Chr10:10q11.22
benign|likely benign|uncertain significance
NM_002900.3(RBP3):c.973G>A (p.Ala325Thr) single nucleotide variant Retinal dystrophy [RCV004816254]|Retinitis pigmentosa 66 [RCV000206931]|not provided [RCV000173292] Chr10:47349457 [GRCh38]
Chr10:48389905 [GRCh37]
Chr10:10q11.22
uncertain significance
GRCh38/hg38 10q11.22(chr10:46157935-47923579)x3 copy number gain See cases [RCV000133836] Chr10:46157935..47923579 [GRCh38]
Chr10:47006954..47531169 [GRCh37]
Chr10:46404919..47061001 [NCBI36]
Chr10:10q11.22
benign
GRCh38/hg38 10q11.22(chr10:46157935-47923579)x1 copy number loss See cases [RCV000050303] Chr10:46157935..47923579 [GRCh38]
Chr10:47006954..47531169 [GRCh37]
Chr10:46404919..47017657 [NCBI36]
Chr10:10q11.22
benign
GRCh38/hg38 10q11.22(chr10:46157935-47923579)x3 copy number gain See cases [RCV000133669] Chr10:46157935..47923579 [GRCh38]
Chr10:46404919..47735531 [NCBI36]
Chr10:10q11.22
benign
GRCh38/hg38 10q11.21-21.1(chr10:42884294-52265317)x3 copy number gain See cases [RCV000134381] Chr10:42884294..52265317 [GRCh38]
Chr10:43379742..54025077 [GRCh37]
Chr10:42699748..53695083 [NCBI36]
Chr10:10q11.21-21.1
pathogenic
GRCh38/hg38 10q11.22-11.23(chr10:45931517-49929364)x1 copy number loss See cases [RCV000134388] Chr10:45931517..49929364 [GRCh38]
Chr10:46491169..51594991 [GRCh37]
Chr10:45911175..51264997 [NCBI36]
Chr10:10q11.22-11.23
pathogenic
GRCh38/hg38 10q11.22(chr10:46490281-48074662)x1 copy number loss See cases [RCV000133963] Chr10:46490281..48074662 [GRCh38]
Chr10:46550803..47410453 [GRCh37]
Chr10:45970809..46830459 [NCBI36]
Chr10:10q11.22
likely benign
GRCh38/hg38 10q11.22(chr10:46157935-47923579)x3 copy number gain See cases [RCV000134855] Chr10:46157935..47923579 [GRCh38]
Chr10:47006954..47768540 [GRCh37]
Chr10:46404919..47238546 [NCBI36]
Chr10:10q11.22
benign
GRCh38/hg38 10q11.22(chr10:46489780-47923579)x3 copy number gain See cases [RCV000134791] Chr10:46489780..47923579 [GRCh38]
Chr10:47006954..47323674 [GRCh37]
Chr10:46371235..46830487 [NCBI36]
Chr10:10q11.22
benign
GRCh38/hg38 10q11.22(chr10:46157935-47923579)x3 copy number gain See cases [RCV000134826] Chr10:46157935..47923579 [GRCh38]
Chr10:47006954..47531169 [GRCh37]
Chr10:46371235..47125064 [NCBI36]
Chr10:10q11.22
benign
GRCh38/hg38 10q11.22(chr10:46489780-47923579)x3 copy number gain See cases [RCV000134840] Chr10:46489780..47923579 [GRCh38]
Chr10:47006954..47323674 [GRCh37]
Chr10:46404919..46830487 [NCBI36]
Chr10:10q11.22
benign|likely benign|conflicting data from submitters
GRCh38/hg38 10q11.22(chr10:46490281-47923579)x1 copy number loss See cases [RCV000134841] Chr10:46490281..47923579 [GRCh38]
Chr10:46984913..47410481 [GRCh37]
Chr10:46404919..46830487 [NCBI36]
Chr10:10q11.22
benign
GRCh38/hg38 10q11.21-11.23(chr10:42395201-50877059)x3 copy number gain See cases [RCV000134846] Chr10:42395201..50877059 [GRCh38]
Chr10:42890649..52636819 [GRCh37]
Chr10:42210655..52306825 [NCBI36]
Chr10:10q11.21-11.23
pathogenic
GRCh38/hg38 10q11.21-22.2(chr10:42685306-73715908)x3 copy number gain See cases [RCV000134848] Chr10:42685306..73715908 [GRCh38]
Chr10:43180754..75475666 [GRCh37]
Chr10:42500760..75145672 [NCBI36]
Chr10:10q11.21-22.2
pathogenic
GRCh38/hg38 10q11.22(chr10:46157935-47923579)x3 copy number gain See cases [RCV000136435] Chr10:46157935..47923579 [GRCh38]
Chr10:47006954..47702558 [GRCh37]
Chr10:46371268..47172564 [NCBI36]
Chr10:10q11.22
benign
GRCh38/hg38 10q11.22-11.23(chr10:45710248-50021141)x1 copy number loss See cases [RCV000136021] Chr10:45710248..50021141 [GRCh38]
Chr10:46205696..51724915 [GRCh37]
Chr10:45525702..51450907 [NCBI36]
Chr10:10q11.22-11.23
pathogenic
GRCh38/hg38 10q11.22(chr10:46157935-47923579)x3 copy number gain See cases [RCV000135951] Chr10:46157935..47923579 [GRCh38]
Chr10:47006954..47531169 [GRCh37]
Chr10:46404808..47125152 [NCBI36]
Chr10:10q11.22
benign
GRCh38/hg38 10q11.22(chr10:46157935-47923579)x3 copy number gain See cases [RCV000136044] Chr10:46157935..47923579 [GRCh38]
Chr10:47006954..47531169 [GRCh37]
Chr10:46404919..47060985 [NCBI36]
Chr10:10q11.22
benign
GRCh38/hg38 10q11.22(chr10:46157935-47923579)x1 copy number loss See cases [RCV000136045] Chr10:46157935..47923579 [GRCh38]
Chr10:46984913..47590979 [GRCh37]
Chr10:46404919..47060985 [NCBI36]
Chr10:10q11.22
benign
GRCh38/hg38 10q11.22(chr10:46146977-47987500)x3 copy number gain See cases [RCV000136063] Chr10:46146977..47987500 [GRCh38]
Chr10:45970793..47744290 [NCBI36]
Chr10:10q11.22
benign
GRCh38/hg38 10q11.22(chr10:46157935-48054380)x3 copy number gain See cases [RCV000137185] Chr10:46157935..48054380 [GRCh38]
Chr10:46609948..49262406 [GRCh37]
Chr10:46029954..48932412 [NCBI36]
Chr10:10q11.22
benign
GRCh38/hg38 10q11.22(chr10:46157935-47923579)x3 copy number gain See cases [RCV000137211] Chr10:46157935..47923579 [GRCh38]
Chr10:47006954..47768522 [GRCh37]
Chr10:46369261..47238528 [NCBI36]
Chr10:10q11.22
benign
GRCh38/hg38 10q11.22(chr10:46490281-47923579)x3 copy number gain See cases [RCV000137212] Chr10:46490281..47923579 [GRCh38]
Chr10:46949255..47410453 [GRCh37]
Chr10:46369261..46830459 [NCBI36]
Chr10:10q11.22
benign
GRCh38/hg38 10q11.22(chr10:46489780-47923579)x1 copy number loss See cases [RCV000137215] Chr10:46489780..47923579 [GRCh38]
Chr10:47006954..47323674 [GRCh37]
Chr10:46369261..46830459 [NCBI36]
Chr10:10q11.22
benign
GRCh38/hg38 10q11.22-11.23(chr10:45810008-50066466)x1 copy number loss See cases [RCV000137750] Chr10:45810008..50066466 [GRCh38]
Chr10:46476965..51724915 [GRCh37]
Chr10:45625462..51496232 [NCBI36]
Chr10:10q11.22-11.23
likely pathogenic
GRCh38/hg38 10q11.22(chr10:46157935-47923579)x3 copy number gain See cases [RCV000138840] Chr10:46157935..47923579 [GRCh38]
Chr10:47006954..47768540 [GRCh37]
Chr10:46371235..47238546 [NCBI36]
Chr10:10q11.22
benign
GRCh38/hg38 10q11.22(chr10:46157935-47923579)x3 copy number gain See cases [RCV000139320] Chr10:46157935..47923579 [GRCh38]
Chr10:47074860..47531169 [GRCh37]
Chr10:46494866..47060985 [NCBI36]
Chr10:10q11.22
benign
GRCh38/hg38 10q11.22-11.23(chr10:45999930-49937908)x1 copy number loss See cases [RCV000139346] Chr10:45999930..49937908 [GRCh38]
Chr10:49002272..52458983 [GRCh37]
Chr10:48357728..52128989 [NCBI36]
Chr10:10q11.22-11.23
likely pathogenic
GRCh38/hg38 10q11.22(chr10:46157935-47923579)x3 copy number gain See cases [RCV000138910] Chr10:46157935..47923579 [GRCh38]
Chr10:47006954..47531169 [GRCh37]
Chr10:46371235..47060985 [NCBI36]
Chr10:10q11.22
benign
GRCh38/hg38 10q11.22(chr10:46157935-47923579)x3 copy number gain See cases [RCV000139094] Chr10:46157935..47923579 [GRCh38]
Chr10:47074860..47531169 [GRCh37]
Chr10:46494866..47125064 [NCBI36]
Chr10:10q11.22
benign
GRCh38/hg38 10q11.22-11.23(chr10:45931517-49929364)x1 copy number loss See cases [RCV000139018] Chr10:45931517..49929364 [GRCh38]
Chr10:46491169..51664079 [GRCh37]
Chr10:45911175..51334085 [NCBI36]
Chr10:10q11.22-11.23
likely pathogenic
GRCh38/hg38 10q11.22-11.23(chr10:45931517-49929364)x1 copy number loss See cases [RCV000138899] Chr10:45931517..49929364 [GRCh38]
Chr10:49002272..51330432 [GRCh37]
Chr10:48395600..51032216 [NCBI36]
Chr10:10q11.22-11.23
likely pathogenic
GRCh38/hg38 10q11.22(chr10:46157935-47923579)x3 copy number gain See cases [RCV000139485] Chr10:46157935..47923579 [GRCh38]
Chr10:47006954..47531169 [GRCh37]
Chr10:46404919..47125064 [NCBI36]
Chr10:10q11.22
benign
GRCh38/hg38 10q11.22(chr10:46157935-47923579)x3 copy number gain See cases [RCV000139516] Chr10:46157935..47923579 [GRCh38]
Chr10:46029938..47744290 [NCBI36]
Chr10:10q11.22
benign
GRCh38/hg38 10q11.22(chr10:46146977-47987500)x3 copy number gain See cases [RCV000139473] Chr10:46146977..47987500 [GRCh38]
Chr10:46550787..47929856 [GRCh37]
Chr10:45970793..47449862 [NCBI36]
Chr10:10q11.22
benign
GRCh38/hg38 10q11.22-11.23(chr10:45788078-50066466)x1 copy number loss See cases [RCV000140650] Chr10:45788078..50066466 [GRCh38]
Chr10:46476965..51724915 [GRCh37]
Chr10:45603532..51496232 [NCBI36]
Chr10:10q11.22-11.23
uncertain significance
GRCh38/hg38 10p15.1-q11.22(chr10:4604734-48074662)x3 copy number gain See cases [RCV000141497] Chr10:4604734..48074662 [GRCh38]
Chr10:4646926..47531169 [GRCh37]
Chr10:4636926..47125152 [NCBI36]
Chr10:10p15.1-q11.22
benign
GRCh38/hg38 10q11.22(chr10:46375049-47987500)x3 copy number gain See cases [RCV000141529] Chr10:46375049..47987500 [GRCh38]
Chr10:46949255..48364954 [GRCh37]
Chr10:46369261..47984960 [NCBI36]
Chr10:10q11.22
benign
GRCh38/hg38 10q11.22-11.23(chr10:45931517-50035809)x3 copy number gain See cases [RCV000142314] Chr10:45931517..50035809 [GRCh38]
Chr10:46966533..51795569 [GRCh37]
Chr10:46386539..51465575 [NCBI36]
Chr10:10q11.22-11.23
uncertain significance
GRCh38/hg38 10q11.22(chr10:46490281-47923579)x3 copy number gain See cases [RCV000142486] Chr10:46490281..47923579 [GRCh38]
Chr10:46609932..47410481 [GRCh37]
Chr10:46029938..46830487 [NCBI36]
Chr10:10q11.22
benign
GRCh38/hg38 10q11.22(chr10:46490281-47923579)x1 copy number loss See cases [RCV000142487] Chr10:46490281..47923579 [GRCh38]
Chr10:46951229..47410481 [GRCh37]
Chr10:46371235..46830487 [NCBI36]
Chr10:10q11.22
benign
GRCh38/hg38 10q11.22(chr10:46375049-47987500)x3 copy number gain See cases [RCV000142497] Chr10:46375049..47987500 [GRCh38]
Chr10:46371235..47744290 [NCBI36]
Chr10:10q11.22
benign
GRCh38/hg38 10q11.22(chr10:46375049-47987500)x3 copy number gain See cases [RCV000143045] Chr10:46375049..47987500 [GRCh38]
Chr10:47006954..47929856 [GRCh37]
Chr10:46371235..47449862 [NCBI36]
Chr10:10q11.22
benign
GRCh38/hg38 10q11.22(chr10:46157935-47923579)x1 copy number loss See cases [RCV000142911] Chr10:46157935..47923579 [GRCh38]
Chr10:46951229..47768540 [GRCh37]
Chr10:46371235..47238546 [NCBI36]
Chr10:10q11.22
benign
GRCh38/hg38 10q11.21-21.3(chr10:42112187-67400675)x3 copy number gain See cases [RCV000142967] Chr10:42112187..67400675 [GRCh38]
Chr10:42607635..69160433 [GRCh37]
Chr10:41927641..68830439 [NCBI36]
Chr10:10q11.21-21.3
pathogenic
GRCh38/hg38 10q11.22-11.23(chr10:45686812-50151325)x3 copy number gain See cases [RCV000142981] Chr10:45686812..50151325 [GRCh38]
Chr10:46182260..51911085 [GRCh37]
Chr10:45502266..51581091 [NCBI36]
Chr10:10q11.22-11.23
likely benign
GRCh38/hg38 10q11.22(chr10:46157935-47923579)x3 copy number gain See cases [RCV000142931] Chr10:46157935..47923579 [GRCh38]
Chr10:47006954..47531169 [GRCh37]
Chr10:46404919..47018978 [NCBI36]
Chr10:10q11.22
benign
GRCh38/hg38 10q11.22-11.23(chr10:45710242-49929364)x1 copy number loss See cases [RCV000142776] Chr10:45710242..49929364 [GRCh38]
Chr10:46205690..51330432 [GRCh37]
Chr10:45525696..51265056 [NCBI36]
Chr10:10q11.22-11.23
pathogenic
GRCh38/hg38 10q11.22(chr10:46375049-47987500)x1 copy number loss See cases [RCV000148274] Chr10:46375049..47987500 [GRCh38]
Chr10:46404919..47735531 [NCBI36]
Chr10:10q11.22
benign
GRCh38/hg38 10q11.22(chr10:46157935-47923579)x3 copy number gain See cases [RCV000148258] Chr10:46157935..47923579 [GRCh38]
Chr10:47006954..47531169 [GRCh37]
Chr10:46404919..47017657 [NCBI36]
Chr10:10q11.22
benign
GRCh38/hg38 10q11.22(chr10:46157935-47923579)x3 copy number gain See cases [RCV000148209] Chr10:46157935..47923579 [GRCh38]
Chr10:47033385..47531169 [GRCh37]
Chr10:46453391..47125152 [NCBI36]
Chr10:10q11.22
benign
GRCh38/hg38 10q11.22(chr10:46157935-47923579)x3 copy number gain See cases [RCV000148240] Chr10:46157935..47923579 [GRCh38]
Chr10:47074802..47531169 [GRCh37]
Chr10:46494808..47125152 [NCBI36]
Chr10:10q11.22
benign
GRCh38/hg38 10q11.22(chr10:46157935-47923579)x3 copy number gain See cases [RCV000148181] Chr10:46157935..47923579 [GRCh38]
Chr10:47006954..47531169 [GRCh37]
Chr10:46404919..47125152 [NCBI36]
Chr10:10q11.22
benign
GRCh38/hg38 10q11.22(chr10:46157935-47923579)x1 copy number loss See cases [RCV000148189] Chr10:46157935..47923579 [GRCh38]
Chr10:46404919..47125152 [NCBI36]
Chr10:10q11.22
benign
NM_002900.3(RBP3):c.2743G>A (p.Asp915Asn) single nucleotide variant not provided [RCV000153814] Chr10:47351227 [GRCh38]
Chr10:48388135 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.1840G>A (p.Asp614Asn) single nucleotide variant Retinitis pigmentosa 66 [RCV000206960]|Retinitis pigmentosa [RCV001105648]|not provided [RCV000153815] Chr10:47350324 [GRCh38]
Chr10:48389038 [GRCh37]
Chr10:10q11.22
conflicting interpretations of pathogenicity|uncertain significance
GRCh38/hg38 10q11.22(chr10:46157935-47923579)x3 copy number gain See cases [RCV000050252] Chr10:46157935..47923579 [GRCh38]
Chr10:47006954..47531169 [GRCh37]
Chr10:46404919..47125152 [NCBI36]
Chr10:10q11.22
benign
GRCh38/hg38 10q11.22(chr10:46157935-47923579)x1 copy number loss See cases [RCV000050260] Chr10:46157935..47923579 [GRCh38]
Chr10:46984913..47655146 [GRCh37]
Chr10:46404919..47125152 [NCBI36]
Chr10:10q11.22
benign
GRCh38/hg38 10q11.22(chr10:46157935-47923579)x3 copy number gain See cases [RCV000050741] Chr10:46157935..47923579 [GRCh38]
Chr10:47074802..47531169 [GRCh37]
Chr10:46494808..47125152 [NCBI36]
Chr10:10q11.22
benign
GRCh38/hg38 10q11.22-11.23(chr10:45999930-49937908)x3 copy number gain See cases [RCV000051111] Chr10:45999930..49937908 [GRCh38]
Chr10:49201519..52415071 [GRCh37]
Chr10:48871525..52085077 [NCBI36]
Chr10:10q11.22-11.23
pathogenic
GRCh38/hg38 10q11.22(chr10:46157935-47923579)x3 copy number gain See cases [RCV000050288] Chr10:46157935..47923579 [GRCh38]
Chr10:47033385..47531169 [GRCh37]
Chr10:46453391..47125152 [NCBI36]
Chr10:10q11.22
benign
GRCh38/hg38 10q11.22(chr10:46157935-47923579)x3 copy number gain See cases [RCV000050301] Chr10:46157935..47923579 [GRCh38]
Chr10:47006954..47531169 [GRCh37]
Chr10:46404919..47017657 [NCBI36]
Chr10:10q11.22
benign
GRCh38/hg38 10q11.22(chr10:46375049-47987500)x1 copy number loss See cases [RCV000050321] Chr10:46375049..47987500 [GRCh38]
Chr10:46404919..47735531 [NCBI36]
Chr10:10q11.22
benign
GRCh38/hg38 10q11.22-11.23(chr10:45999930-49937908)x1 copy number loss See cases [RCV000052317] Chr10:45999930..49937908 [GRCh38]
Chr10:49390075..52518989 [GRCh37]
Chr10:49060081..52188995 [NCBI36]
Chr10:10q11.22-11.23
pathogenic|uncertain significance
GRCh38/hg38 10q11.22-11.23(chr10:45999930-49937908)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052319]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052319]|See cases [RCV000052319] Chr10:45999930..49937908 [GRCh38]
Chr10:49430980..52415071 [GRCh37]
Chr10:49100986..52085077 [NCBI36]
Chr10:10q11.22-11.23
pathogenic
GRCh38/hg38 10q11.22-11.23(chr10:45931517-50655311)x1 copy number loss See cases [RCV000052320] Chr10:45931517..50655311 [GRCh38]
Chr10:49430980..52415071 [GRCh37]
Chr10:49100986..52085077 [NCBI36]
Chr10:10q11.22-11.23
pathogenic
NM_002900.3(RBP3):c.3062C>A (p.Ser1021Tyr) single nucleotide variant RBP3-related disorder [RCV003947489]|Retinitis pigmentosa 66 [RCV000206994]|not provided [RCV000175739] Chr10:47353332 [GRCh38]
Chr10:48386030 [GRCh37]
Chr10:10q11.22
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002900.3(RBP3):c.3441G>A (p.Thr1147=) single nucleotide variant not provided [RCV001493959] Chr10:47357154 [GRCh38]
Chr10:48382208 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.962C>T (p.Thr321Ile) single nucleotide variant Retinitis pigmentosa 66 [RCV000206892]|Retinitis pigmentosa [RCV001105735]|not provided [RCV001201499] Chr10:47349446 [GRCh38]
Chr10:48389916 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.2503G>A (p.Gly835Ser) single nucleotide variant Retinitis pigmentosa 66 [RCV000206893]|Retinitis pigmentosa [RCV001106686]|not provided [RCV001046800] Chr10:47350987 [GRCh38]
Chr10:48388375 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.2239C>T (p.Arg747Cys) single nucleotide variant Retinitis pigmentosa 66 [RCV000206898] Chr10:47350723 [GRCh38]
Chr10:48388639 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.2077G>A (p.Val693Met) single nucleotide variant Retinitis pigmentosa 66 [RCV000206904]|Retinitis pigmentosa [RCV001103699]|not provided [RCV000973192] Chr10:47350561 [GRCh38]
Chr10:48388801 [GRCh37]
Chr10:10q11.22
benign|uncertain significance
NM_002900.3(RBP3):c.1135G>A (p.Ala379Thr) single nucleotide variant Retinitis pigmentosa 66 [RCV000206905]|Retinitis pigmentosa [RCV000288845]|not provided [RCV001852525] Chr10:47349619 [GRCh38]
Chr10:48389743 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.1603C>T (p.Arg535Cys) single nucleotide variant Retinal dystrophy [RCV003888640]|Retinitis pigmentosa 66 [RCV000206916]|not provided [RCV001341968] Chr10:47350087 [GRCh38]
Chr10:48389275 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.3175G>A (p.Val1059Ile) single nucleotide variant Retinitis pigmentosa 66 [RCV000206919]|not provided [RCV001351898] Chr10:47353445 [GRCh38]
Chr10:48385917 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.2866G>A (p.Glu956Lys) single nucleotide variant Retinitis pigmentosa 66 [RCV000206922]|not provided [RCV001366870] Chr10:47351350 [GRCh38]
Chr10:48388012 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.1795A>G (p.Ile599Val) single nucleotide variant RBP3-related disorder [RCV003917725]|Retinal dystrophy [RCV004816319]|Retinitis pigmentosa 66 [RCV000206927]|Retinitis pigmentosa [RCV001105649]|not provided [RCV000371593] Chr10:47350279 [GRCh38]
Chr10:48389083 [GRCh37]
Chr10:10q11.22
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002900.3(RBP3):c.800G>A (p.Arg267Gln) single nucleotide variant Optic atrophy [RCV004816318]|Retinitis pigmentosa 66 [RCV000206934]|not provided [RCV001243043] Chr10:47349284 [GRCh38]
Chr10:48390078 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.2024C>T (p.Thr675Ile) single nucleotide variant Retinitis pigmentosa 66 [RCV000206937] Chr10:47350508 [GRCh38]
Chr10:48388854 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.463G>A (p.Val155Met) single nucleotide variant Retinitis pigmentosa 66 [RCV000206939] Chr10:47348947 [GRCh38]
Chr10:48390415 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.2888C>T (p.Thr963Ile) single nucleotide variant Retinitis pigmentosa 66 [RCV000206943] Chr10:47351372 [GRCh38]
Chr10:48387990 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.1298C>T (p.Ser433Leu) single nucleotide variant Retinitis pigmentosa 66 [RCV000206945]|not provided [RCV001321092] Chr10:47349782 [GRCh38]
Chr10:48389580 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.2708C>G (p.Thr903Arg) single nucleotide variant Retinitis pigmentosa 66 [RCV000206948] Chr10:47351192 [GRCh38]
Chr10:48388170 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.2355C>A (p.Asn785Lys) single nucleotide variant Retinitis pigmentosa 66 [RCV000206953] Chr10:47350839 [GRCh38]
Chr10:48388523 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.487T>C (p.Ser163Pro) single nucleotide variant Retinitis pigmentosa 66 [RCV000206958]|Retinitis pigmentosa [RCV001106853]|not provided [RCV000968659] Chr10:47348971 [GRCh38]
Chr10:48390391 [GRCh37]
Chr10:10q11.22
benign|uncertain significance
NM_002900.3(RBP3):c.53G>T (p.Gly18Val) single nucleotide variant Retinitis pigmentosa 66 [RCV000206962] Chr10:47348537 [GRCh38]
Chr10:48390825 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.3581C>T (p.Thr1194Met) single nucleotide variant Retinitis pigmentosa 66 [RCV000206965]|not provided [RCV001349416] Chr10:47357294 [GRCh38]
Chr10:48382068 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.1553A>G (p.Gln518Arg) single nucleotide variant Retinitis pigmentosa 66 [RCV000206967]|not provided [RCV001053424] Chr10:47350037 [GRCh38]
Chr10:48389325 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.2063C>T (p.Ala688Val) single nucleotide variant Retinitis pigmentosa 66 [RCV000206971]|Retinitis pigmentosa [RCV001103700]|not provided [RCV001172034] Chr10:47350547 [GRCh38]
Chr10:48388815 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.2221G>A (p.Gly741Ser) single nucleotide variant Retinitis pigmentosa 66 [RCV000206977]|Retinitis pigmentosa [RCV000394626]|not provided [RCV001852526] Chr10:47350705 [GRCh38]
Chr10:48388657 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.1037G>A (p.Arg346His) single nucleotide variant Retinitis pigmentosa 66 [RCV000206981]|Retinitis pigmentosa [RCV001103798]|not provided [RCV000947248]|not specified [RCV001723760] Chr10:47349521 [GRCh38]
Chr10:48389841 [GRCh37]
Chr10:10q11.22
benign|uncertain significance
NM_002900.3(RBP3):c.844G>A (p.Val282Met) single nucleotide variant Retinitis pigmentosa 66 [RCV000206985]|not provided [RCV001060350] Chr10:47349328 [GRCh38]
Chr10:48390034 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.1569C>G (p.His523Gln) single nucleotide variant RBP3-related disorder [RCV003937674]|Retinitis pigmentosa 66 [RCV000206990]|not provided [RCV001439041] Chr10:47350053 [GRCh38]
Chr10:48389309 [GRCh37]
Chr10:10q11.22
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002900.3(RBP3):c.1327C>A (p.Arg443Ser) single nucleotide variant Retinitis pigmentosa 66 [RCV000206995] Chr10:47349811 [GRCh38]
Chr10:48389551 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.2763C>A (p.Ser921Arg) single nucleotide variant Retinitis pigmentosa 66 [RCV000206998]|not provided [RCV001307856] Chr10:47351247 [GRCh38]
Chr10:48388115 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.2497C>T (p.Arg833Cys) single nucleotide variant RBP3-related disorder [RCV004752787]|Retinal dystrophy [RCV004816320]|Retinitis pigmentosa 66 [RCV000207000]|not provided [RCV001226061] Chr10:47350981 [GRCh38]
Chr10:48388381 [GRCh37]
Chr10:10q11.22
likely benign|uncertain significance
NM_002900.3(RBP3):c.586G>A (p.Val196Met) single nucleotide variant Retinal dystrophy [RCV003888639]|Retinitis pigmentosa 66 [RCV000207007] Chr10:47349070 [GRCh38]
Chr10:48390292 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.1844C>T (p.Ala615Val) single nucleotide variant Retinitis pigmentosa 66 [RCV000207011] Chr10:47350328 [GRCh38]
Chr10:48389034 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.365G>A (p.Arg122His) single nucleotide variant Retinitis pigmentosa 66 [RCV000207013] Chr10:47348849 [GRCh38]
Chr10:48390513 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.1778T>C (p.Val593Ala) single nucleotide variant Retinitis pigmentosa 66 [RCV000207015] Chr10:47350262 [GRCh38]
Chr10:48389100 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.1237C>T (p.Pro413Ser) single nucleotide variant Retinal dystrophy [RCV000210290]|not provided [RCV001038992] Chr10:47349721 [GRCh38]
Chr10:48389641 [GRCh37]
Chr10:10q11.22
likely pathogenic|uncertain significance
NM_002900.3(RBP3):c.249C>A (p.Asn83Lys) single nucleotide variant Retinal dystrophy [RCV000210317]|not provided [RCV001038993] Chr10:47348733 [GRCh38]
Chr10:48390629 [GRCh37]
Chr10:10q11.22
likely pathogenic|uncertain significance
NM_002900.3(RBP3):c.3613T>A (p.Ser1205Thr) single nucleotide variant Inborn genetic diseases [RCV004020724]|Retinal dystrophy [RCV004816377]|Retinitis pigmentosa [RCV001103601]|not provided [RCV000224957] Chr10:47357326 [GRCh38]
Chr10:48382036 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.1064C>A (p.Ala355Asp) single nucleotide variant not provided [RCV001367980] Chr10:47349548 [GRCh38]
Chr10:48389814 [GRCh37]
Chr10:10q11.22
uncertain significance
GRCh37/hg19 10q11.22-11.23(chr10:46491169-51081560)x1 copy number loss See cases [RCV000240024] Chr10:46491169..51081560 [GRCh37]
Chr10:10q11.22-11.23
pathogenic
NM_002900.3(RBP3):c.472A>T (p.Asn158Tyr) single nucleotide variant Inborn genetic diseases [RCV002528263]|not provided [RCV000522277] Chr10:47348956 [GRCh38]
Chr10:48390406 [GRCh37]
Chr10:10q11.22
uncertain significance
GRCh37/hg19 10q11.22-11.23(chr10:46242057-51595050)x3 copy number gain See cases [RCV000240599] Chr10:46242057..51595050 [GRCh37]
Chr10:10q11.22-11.23
pathogenic
NM_002900.3(RBP3):c.1323C>T (p.Tyr441=) single nucleotide variant Retinitis pigmentosa [RCV000320988]|not provided [RCV002520590] Chr10:47349807 [GRCh38]
Chr10:48389555 [GRCh37]
Chr10:10q11.22
likely benign|uncertain significance
NM_002900.3(RBP3):c.1007T>C (p.Val336Ala) single nucleotide variant Retinitis pigmentosa [RCV000367941]|not provided [RCV001207901] Chr10:47349491 [GRCh38]
Chr10:48389871 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.2095T>C (p.Leu699=) single nucleotide variant Retinitis pigmentosa [RCV000394623]|not provided [RCV001522642] Chr10:47350579 [GRCh38]
Chr10:48388783 [GRCh37]
Chr10:10q11.22
benign|likely benign
NM_002900.3(RBP3):c.*65C>T single nucleotide variant Retinitis pigmentosa [RCV000394902] Chr10:47357522 [GRCh38]
Chr10:48381840 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.-99_-97del deletion Retinitis Pigmentosa, Recessive [RCV000322554] Chr10:47348384..47348386 [GRCh38]
Chr10:48390974..48390976 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.2619C>T (p.Ala873=) single nucleotide variant Retinitis pigmentosa [RCV000369770]|not provided [RCV000971293]|not specified [RCV001700043] Chr10:47351103 [GRCh38]
Chr10:48388259 [GRCh37]
Chr10:10q11.22
benign|likely benign|uncertain significance
NM_002900.3(RBP3):c.1809C>T (p.Gly603=) single nucleotide variant Retinitis pigmentosa [RCV000370821]|not provided [RCV000956821] Chr10:47350293 [GRCh38]
Chr10:48389069 [GRCh37]
Chr10:10q11.22
benign|uncertain significance
NM_002900.3(RBP3):c.2871G>T (p.Leu957=) single nucleotide variant Retinitis pigmentosa [RCV000269261]|not provided [RCV001422700] Chr10:47351355 [GRCh38]
Chr10:48388007 [GRCh37]
Chr10:10q11.22
likely benign|uncertain significance
NM_002900.3(RBP3):c.1146T>G (p.Asp382Glu) single nucleotide variant Retinitis pigmentosa [RCV000347360]|not provided [RCV001327203] Chr10:47349630 [GRCh38]
Chr10:48389732 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.2407G>A (p.Ala803Thr) single nucleotide variant Inborn genetic diseases [RCV002520587]|Retinal dystrophy [RCV003888711]|Retinitis pigmentosa [RCV000371632]|not provided [RCV001850585] Chr10:47350891 [GRCh38]
Chr10:48388471 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.1083G>C (p.Thr361=) single nucleotide variant Retinitis pigmentosa [RCV000397627]|not provided [RCV000913373] Chr10:47349567 [GRCh38]
Chr10:48389795 [GRCh37]
Chr10:10q11.22
likely benign|uncertain significance
NM_002900.3(RBP3):c.1384C>T (p.Arg462Cys) single nucleotide variant Retinitis pigmentosa [RCV000286960]|not provided [RCV001240016] Chr10:47349868 [GRCh38]
Chr10:48389494 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.258C>T (p.Arg86=) single nucleotide variant RBP3-related disorder [RCV003957561]|Retinitis pigmentosa [RCV000304815]|not provided [RCV001486186] Chr10:47348742 [GRCh38]
Chr10:48390620 [GRCh37]
Chr10:10q11.22
likely benign|uncertain significance
NM_002900.3(RBP3):c.3381G>A (p.Gln1127=) single nucleotide variant Retinitis pigmentosa [RCV000306182]|not provided [RCV000974253] Chr10:47355511 [GRCh38]
Chr10:48383851 [GRCh37]
Chr10:10q11.22
benign|uncertain significance
NM_002900.3(RBP3):c.2626G>T (p.Ala876Ser) single nucleotide variant Inborn genetic diseases [RCV002522157]|Retinitis pigmentosa [RCV000326768]|not provided [RCV001511061] Chr10:47351110 [GRCh38]
Chr10:48388252 [GRCh37]
Chr10:10q11.22
benign|uncertain significance
NM_002900.3(RBP3):c.*165_*166del deletion Retinitis Pigmentosa, Recessive [RCV000349500] Chr10:47357622..47357623 [GRCh38]
Chr10:48381739..48381740 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.1123G>A (p.Gly375Ser) single nucleotide variant Inborn genetic diseases [RCV004955405]|Retinitis pigmentosa [RCV000350740]|not provided [RCV002520591] Chr10:47349607 [GRCh38]
Chr10:48389755 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.1179A>G (p.Thr393=) single nucleotide variant Retinitis pigmentosa [RCV000290120]|not provided [RCV001405063] Chr10:47349663 [GRCh38]
Chr10:48389699 [GRCh37]
Chr10:10q11.22
likely benign|uncertain significance
NM_002900.3(RBP3):c.1207G>A (p.Ala403Thr) single nucleotide variant Retinitis pigmentosa [RCV000378014]|not provided [RCV001350649] Chr10:47349691 [GRCh38]
Chr10:48389671 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.1399C>T (p.Pro467Ser) single nucleotide variant Retinitis pigmentosa [RCV000379039]|not provided [RCV001040424] Chr10:47349883 [GRCh38]
Chr10:48389479 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.1806C>T (p.His602=) single nucleotide variant Retinitis pigmentosa [RCV000273913]|not provided [RCV001429406]|not specified [RCV001729517] Chr10:47350290 [GRCh38]
Chr10:48389072 [GRCh37]
Chr10:10q11.22
benign|likely benign|uncertain significance
NM_002900.3(RBP3):c.2921G>A (p.Arg974Lys) single nucleotide variant Inborn genetic diseases [RCV003165812]|Retinitis pigmentosa [RCV000309650]|not provided [RCV001297642] Chr10:47351405 [GRCh38]
Chr10:48387957 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.2591G>A (p.Arg864Gln) single nucleotide variant Retinitis pigmentosa [RCV000330377]|not provided [RCV001373324] Chr10:47351075 [GRCh38]
Chr10:48388287 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.1776C>G (p.Thr592=) single nucleotide variant Retinitis pigmentosa [RCV000331213]|not provided [RCV000916692] Chr10:47350260 [GRCh38]
Chr10:48389102 [GRCh37]
Chr10:10q11.22
likely benign|uncertain significance
NM_002900.3(RBP3):c.787G>T (p.Ala263Ser) single nucleotide variant Retinal dystrophy [RCV003888713]|Retinitis pigmentosa [RCV000353912]|not provided [RCV001230263] Chr10:47349271 [GRCh38]
Chr10:48390091 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.927C>T (p.Ala309=) single nucleotide variant Retinal dystrophy [RCV003888712]|Retinitis pigmentosa [RCV000401701]|not provided [RCV000961167] Chr10:47349411 [GRCh38]
Chr10:48389951 [GRCh37]
Chr10:10q11.22
benign|uncertain significance
NM_002900.3(RBP3):c.1044C>T (p.Pro348=) single nucleotide variant Retinitis pigmentosa [RCV000310963]|not provided [RCV000914525] Chr10:47349528 [GRCh38]
Chr10:48389834 [GRCh37]
Chr10:10q11.22
benign|uncertain significance
NM_002900.3(RBP3):c.1754C>A (p.Pro585His) single nucleotide variant Inborn genetic diseases [RCV002520589]|Retinitis pigmentosa [RCV000355676]|not provided [RCV001859783] Chr10:47350238 [GRCh38]
Chr10:48389124 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.1141G>C (p.Glu381Gln) single nucleotide variant Inborn genetic diseases [RCV002522158]|Retinal dystrophy [RCV004816530]|Retinitis pigmentosa [RCV000404738]|not provided [RCV000519611] Chr10:47349625 [GRCh38]
Chr10:48389737 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.717C>T (p.Ala239=) single nucleotide variant Retinitis Pigmentosa, Recessive [RCV000261360]|not provided [RCV002059552] Chr10:47349201 [GRCh38]
Chr10:48390161 [GRCh37]
Chr10:10q11.22
likely benign|uncertain significance
NM_002900.3(RBP3):c.2616G>A (p.Thr872=) single nucleotide variant Retinitis pigmentosa [RCV000277626]|not provided [RCV001450861] Chr10:47351100 [GRCh38]
Chr10:48388262 [GRCh37]
Chr10:10q11.22
likely benign|uncertain significance
NM_002900.3(RBP3):c.3156C>T (p.Asp1052=) single nucleotide variant Retinitis pigmentosa [RCV000358605]|not provided [RCV001454452] Chr10:47353426 [GRCh38]
Chr10:48385936 [GRCh37]
Chr10:10q11.22
likely benign|uncertain significance
NM_002900.3(RBP3):c.2270T>G (p.Val757Gly) single nucleotide variant Retinitis pigmentosa [RCV000279369]|not provided [RCV001361430] Chr10:47350754 [GRCh38]
Chr10:48388608 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.3635C>T (p.Thr1212Ile) single nucleotide variant Retinal dystrophy [RCV003888710]|Retinitis pigmentosa [RCV000336564]|not provided [RCV001514049] Chr10:47357348 [GRCh38]
Chr10:48382014 [GRCh37]
Chr10:10q11.22
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002900.3(RBP3):c.2556C>T (p.Ala852=) single nucleotide variant RBP3-related disorder [RCV003930265]|Retinitis pigmentosa [RCV000387230]|not provided [RCV001517656] Chr10:47351040 [GRCh38]
Chr10:48388322 [GRCh37]
Chr10:10q11.22
benign|likely benign|uncertain significance
NM_002900.3(RBP3):c.78C>T (p.Ser26=) single nucleotide variant Retinitis pigmentosa [RCV000361842]|not provided [RCV000968171] Chr10:47348562 [GRCh38]
Chr10:48390800 [GRCh37]
Chr10:10q11.22
benign|likely benign|uncertain significance
NM_002900.3(RBP3):c.1933C>T (p.His645Tyr) single nucleotide variant Retinitis pigmentosa [RCV000362609]|not provided [RCV000900247] Chr10:47350417 [GRCh38]
Chr10:48388945 [GRCh37]
Chr10:10q11.22
benign|uncertain significance
NM_002900.3(RBP3):c.*388G>A single nucleotide variant Retinitis pigmentosa [RCV000388906] Chr10:47357845 [GRCh38]
Chr10:48381517 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.-13C>T single nucleotide variant Retinitis pigmentosa 66 [RCV001795920]|Retinitis pigmentosa [RCV000265054]|not provided [RCV004718257] Chr10:47348472 [GRCh38]
Chr10:48390890 [GRCh37]
Chr10:10q11.22
benign|likely benign
NM_002900.3(RBP3):c.2481C>T (p.Pro827=) single nucleotide variant Retinitis pigmentosa [RCV000281267]|not provided [RCV001424779] Chr10:47350965 [GRCh38]
Chr10:48388397 [GRCh37]
Chr10:10q11.22
likely benign|uncertain significance
NM_002900.3(RBP3):c.3707G>A (p.Arg1236Lys) single nucleotide variant Retinal dystrophy [RCV003888709]|Retinitis pigmentosa [RCV000297928]|not provided [RCV001479563] Chr10:47357420 [GRCh38]
Chr10:48381942 [GRCh37]
Chr10:10q11.22
benign|likely benign|uncertain significance
NM_002900.3(RBP3):c.1674G>A (p.Ser558=) single nucleotide variant Retinitis pigmentosa [RCV000317370]|not provided [RCV001493698] Chr10:47350158 [GRCh38]
Chr10:48389204 [GRCh37]
Chr10:10q11.22
likely benign|uncertain significance
NM_002900.3(RBP3):c.2247C>T (p.Asp749=) single nucleotide variant Retinitis pigmentosa [RCV000341432]|not provided [RCV000959873] Chr10:47350731 [GRCh38]
Chr10:48388631 [GRCh37]
Chr10:10q11.22
benign|likely benign
NM_002900.3(RBP3):c.2125G>T (p.Val709Leu) single nucleotide variant Inborn genetic diseases [RCV002520588]|Retinitis pigmentosa [RCV000282751]|not provided [RCV001321364] Chr10:47350609 [GRCh38]
Chr10:48388753 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.2416C>T (p.Arg806Cys) single nucleotide variant Retinitis pigmentosa [RCV000319334]|not provided [RCV000968658] Chr10:47350900 [GRCh38]
Chr10:48388462 [GRCh37]
Chr10:10q11.22
benign|uncertain significance
NM_002900.3(RBP3):c.2899G>A (p.Gly967Ser) single nucleotide variant Retinitis pigmentosa [RCV000366232]|not provided [RCV001067450] Chr10:47351383 [GRCh38]
Chr10:48387979 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.1742T>A (p.Leu581Gln) single nucleotide variant Retinitis pigmentosa [RCV000259849] Chr10:47350226 [GRCh38]
Chr10:48389136 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.63C>T (p.His21=) single nucleotide variant not provided [RCV000276446] Chr10:47348547 [GRCh38]
Chr10:48390815 [GRCh37]
Chr10:10q11.22
conflicting interpretations of pathogenicity|uncertain significance
NM_002900.3(RBP3):c.1581G>A (p.Pro527=) single nucleotide variant Retinitis pigmentosa [RCV001106784]|not provided [RCV000347622] Chr10:47350065 [GRCh38]
Chr10:48389297 [GRCh37]
Chr10:10q11.22
conflicting interpretations of pathogenicity|uncertain significance
NM_002900.3(RBP3):c.2949G>C (p.Glu983Asp) single nucleotide variant Retinitis pigmentosa [RCV000266187] Chr10:47351433 [GRCh38]
Chr10:48387929 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.816C>A (p.Gly272=) single nucleotide variant not provided [RCV000880112]|not specified [RCV000364801] Chr10:47349300 [GRCh38]
Chr10:48390062 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.1928C>T (p.Thr643Ile) single nucleotide variant not provided [RCV000402776] Chr10:47350412 [GRCh38]
Chr10:48388950 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.1641G>A (p.Thr547=) single nucleotide variant Retinal dystrophy [RCV003888684]|Retinitis pigmentosa [RCV001106781]|not provided [RCV000267203] Chr10:47350125 [GRCh38]
Chr10:48389237 [GRCh37]
Chr10:10q11.22
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002900.3(RBP3):c.727G>A (p.Ala243Thr) single nucleotide variant Inborn genetic diseases [RCV004023249]|not provided [RCV000489244] Chr10:47349211 [GRCh38]
Chr10:48390151 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.*180T>C single nucleotide variant Retinitis pigmentosa [RCV000292261] Chr10:47357637 [GRCh38]
Chr10:48381725 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.1919T>C (p.Val640Ala) single nucleotide variant Retinitis pigmentosa [RCV000390320] Chr10:47350403 [GRCh38]
Chr10:48388959 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.2012G>A (p.Gly671Asp) single nucleotide variant Retinitis pigmentosa [RCV000310196] Chr10:47350496 [GRCh38]
Chr10:48388866 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.2121G>A (p.Glu707=) single nucleotide variant RBP3-related disorder [RCV003950008]|Retinitis pigmentosa [RCV000340217]|not provided [RCV002059551] Chr10:47350605 [GRCh38]
Chr10:48388757 [GRCh37]
Chr10:10q11.22
likely benign|uncertain significance
NM_002900.3(RBP3):c.3401G>A (p.Gly1134Asp) single nucleotide variant Retinitis Pigmentosa, Recessive [RCV000394922] Chr10:47357114 [GRCh38]
Chr10:48382248 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.1813G>C (p.Ala605Pro) single nucleotide variant Retinitis pigmentosa [RCV000313513] Chr10:47350297 [GRCh38]
Chr10:48389065 [GRCh37]
Chr10:10q11.22
uncertain significance
NC_000010.10:g.43611191_61663279inv inversion Pediatric metastatic thyroid tumour [RCV000585841] Chr10:43611191..61663279 [GRCh37]
Chr10:10q11.21-21.2
likely pathogenic
NM_002900.3(RBP3):c.418G>A (p.Gly140Ser) single nucleotide variant not provided [RCV000597297] Chr10:47348902 [GRCh38]
Chr10:48390460 [GRCh37]
Chr10:10q11.22
conflicting interpretations of pathogenicity|uncertain significance
NM_002900.3(RBP3):c.1534C>T (p.Arg512Cys) single nucleotide variant not provided [RCV000598398] Chr10:47350018 [GRCh38]
Chr10:48389344 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.126G>A (p.Pro42=) single nucleotide variant Retinitis pigmentosa [RCV001106854]|not provided [RCV000594582] Chr10:47348610 [GRCh38]
Chr10:48390752 [GRCh37]
Chr10:10q11.22
conflicting interpretations of pathogenicity|uncertain significance
NM_002900.3(RBP3):c.299C>T (p.Pro100Leu) single nucleotide variant not provided [RCV000733678] Chr10:47348783 [GRCh38]
Chr10:48390579 [GRCh37]
Chr10:10q11.22
conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 10q11.22-11.23(chr10:46224446-51594991)x1 copy number loss See cases [RCV000449125] Chr10:46224446..51594991 [GRCh37]
Chr10:10q11.22-11.23
pathogenic
GRCh37/hg19 10q11.22-11.23(chr10:46210750-51753095)x3 copy number gain See cases [RCV000447295] Chr10:46210750..51753095 [GRCh37]
Chr10:10q11.22-11.23
uncertain significance
GRCh37/hg19 10q11.22(chr10:46321377-49376720)x3 copy number gain See cases [RCV000447498] Chr10:46321377..49376720 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.826TTC[2] (p.Phe278del) microsatellite Congenital stationary night blindness [RCV000505002]|not provided [RCV001202729] Chr10:47349309..47349311 [GRCh38]
Chr10:48390044..48390046 [GRCh37]
Chr10:10q11.22
likely pathogenic|uncertain significance
GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3 copy number gain See cases [RCV000448750] Chr10:93297..135378918 [GRCh37]
Chr10:10p15.3-q26.3
pathogenic
NM_002900.3(RBP3):c.863C>A (p.Pro288His) single nucleotide variant not provided [RCV000497931] Chr10:47349347 [GRCh38]
Chr10:48390015 [GRCh37]
Chr10:10q11.22
likely pathogenic|conflicting interpretations of pathogenicity
GRCh37/hg19 10q11.22-11.23(chr10:46966534-51822386)x1 copy number loss See cases [RCV000510320] Chr10:46966534..51822386 [GRCh37]
Chr10:10q11.22-11.23
likely pathogenic
GRCh37/hg19 10q11.22-11.23(chr10:46966534-51848637)x3 copy number gain See cases [RCV000511694] Chr10:46966534..51848637 [GRCh37]
Chr10:10q11.22-11.23
uncertain significance
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143) copy number gain See cases [RCV000511389] Chr10:100027..135427143 [GRCh37]
Chr10:10p15.3-q26.3
pathogenic|uncertain significance
GRCh37/hg19 10q11.22-11.23(chr10:46966534-51903756)x1 copy number loss See cases [RCV000510805] Chr10:46966534..51903756 [GRCh37]
Chr10:10q11.22-11.23
likely pathogenic
GRCh37/hg19 10p15.3-q11.23(chr10:100026-50961640)x3 copy number gain See cases [RCV000510893] Chr10:100026..50961640 [GRCh37]
Chr10:10p15.3-q11.23
pathogenic
GRCh37/hg19 10q11.22-11.23(chr10:46966533-51903756)x1 copy number loss See cases [RCV000511082] Chr10:46966533..51903756 [GRCh37]
Chr10:10q11.22-11.23
likely pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3 copy number gain See cases [RCV000510861] Chr10:100027..135427143 [GRCh37]
Chr10:10p15.3-q26.3
pathogenic
GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000626438] Chr10:42347406..135534747 [GRCh37]
Chr10:10q11.21-26.3
drug response
NM_002900.3(RBP3):c.843C>T (p.Pro281=) single nucleotide variant Retinal dystrophy [RCV003889929]|Retinitis pigmentosa [RCV001106850]|not provided [RCV000888334]|not specified [RCV000594133] Chr10:47349327 [GRCh38]
Chr10:48390035 [GRCh37]
Chr10:10q11.22
benign|likely benign|uncertain significance
NM_002900.3(RBP3):c.2846C>T (p.Ala949Val) single nucleotide variant Inborn genetic diseases [RCV003273973] Chr10:47351330 [GRCh38]
Chr10:48388032 [GRCh37]
Chr10:10q11.22
uncertain significance
GRCh37/hg19 10q11.22-11.23(chr10:46966534-51891907)x3 copy number gain See cases [RCV000512156] Chr10:46966534..51891907 [GRCh37]
Chr10:10q11.22-11.23
uncertain significance
GRCh37/hg19 10q11.22-11.23(chr10:46966533-51700837)x1 copy number loss not provided [RCV000683276] Chr10:46966533..51700837 [GRCh37]
Chr10:10q11.22-11.23
pathogenic
GRCh37/hg19 10q11.22-11.23(chr10:46225364-51874356)x1 copy number loss not provided [RCV000683281] Chr10:46225364..51874356 [GRCh37]
Chr10:10q11.22-11.23
pathogenic|likely pathogenic
GRCh37/hg19 10q11.22(chr10:47059392-48736754)x1 copy number loss not provided [RCV000683263] Chr10:47059392..48736754 [GRCh37]
Chr10:10q11.22
uncertain significance
GRCh37/hg19 10q11.22-11.23(chr10:46966533-51903755)x1 copy number loss not provided [RCV000683279] Chr10:46966533..51903755 [GRCh37]
Chr10:10q11.22-11.23
pathogenic
GRCh37/hg19 10q11.22-11.23(chr10:46287821-51861565)x1 copy number loss not provided [RCV000683280] Chr10:46287821..51861565 [GRCh37]
Chr10:10q11.22-11.23
pathogenic
GRCh37/hg19 10q11.22-11.23(chr10:46966533-51822386)x3 copy number gain not provided [RCV000683277] Chr10:46966533..51822386 [GRCh37]
Chr10:10q11.22-11.23
likely pathogenic
GRCh37/hg19 10q11.22-11.23(chr10:46966533-51874356)x1 copy number loss not provided [RCV000683278] Chr10:46966533..51874356 [GRCh37]
Chr10:10q11.22-11.23
pathogenic|likely pathogenic|uncertain significance
NM_002900.3(RBP3):c.3379C>T (p.Gln1127Ter) single nucleotide variant Cone-rod dystrophy [RCV002267760] Chr10:47355509 [GRCh38]
Chr10:48383853 [GRCh37]
Chr10:10q11.22
pathogenic
GRCh37/hg19 10q11.22-11.23(chr10:47049547-51903662)x3 copy number gain not provided [RCV000737103] Chr10:47049547..51903662 [GRCh37]
Chr10:10q11.22-11.23
likely pathogenic
Single allele duplication Schizophrenia [RCV000754119] Chr10:46157933..50098267 [GRCh38]
Chr10:10q11.22-11.23
likely pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:98087-135477883)x3 copy number gain not provided [RCV000749465] Chr10:98087..135477883 [GRCh37]
Chr10:10p15.3-q26.3
pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:73232-135524321)x3 copy number gain not provided [RCV000749464] Chr10:73232..135524321 [GRCh37]
Chr10:10p15.3-q26.3
pathogenic
NM_002900.3(RBP3):c.519A>G (p.Thr173=) single nucleotide variant not provided [RCV000979405] Chr10:47349003 [GRCh38]
Chr10:48390359 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.120C>T (p.Cys40=) single nucleotide variant Retinitis pigmentosa [RCV001107520]|not provided [RCV000896345] Chr10:47348604 [GRCh38]
Chr10:48390758 [GRCh37]
Chr10:10q11.22
benign|uncertain significance
NM_002900.3(RBP3):c.509G>A (p.Arg170Gln) single nucleotide variant Retinal dystrophy [RCV004815564]|Retinitis pigmentosa 66 [RCV001542765]|not provided [RCV002032542] Chr10:47348993 [GRCh38]
Chr10:48390369 [GRCh37]
Chr10:10q11.22
likely pathogenic|uncertain significance
NM_002900.3(RBP3):c.1848C>G (p.Ile616Met) single nucleotide variant not provided [RCV001056944] Chr10:47350332 [GRCh38]
Chr10:48389030 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.3587G>A (p.Arg1196His) single nucleotide variant Inborn genetic diseases [RCV004031811]|not provided [RCV001057426] Chr10:47357300 [GRCh38]
Chr10:48382062 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.1092C>T (p.Ser364=) single nucleotide variant not provided [RCV000900634] Chr10:47349576 [GRCh38]
Chr10:48389786 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.2490C>T (p.Ala830=) single nucleotide variant Retinal dystrophy [RCV003890081]|not provided [RCV000928527] Chr10:47350974 [GRCh38]
Chr10:48388388 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.2331G>A (p.Ala777=) single nucleotide variant not provided [RCV000929338] Chr10:47350815 [GRCh38]
Chr10:48388547 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.57C>T (p.Pro19=) single nucleotide variant not provided [RCV000899143] Chr10:47348541 [GRCh38]
Chr10:48390821 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.972C>T (p.Ser324=) single nucleotide variant RBP3-related disorder [RCV003953354]|not provided [RCV000976015] Chr10:47349456 [GRCh38]
Chr10:48389906 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.396C>T (p.Tyr132=) single nucleotide variant not provided [RCV000976763] Chr10:47348880 [GRCh38]
Chr10:48390482 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.2194G>A (p.Ala732Thr) single nucleotide variant not provided [RCV001063356] Chr10:47350678 [GRCh38]
Chr10:48388684 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.1427T>C (p.Met476Thr) single nucleotide variant not provided [RCV001039461] Chr10:47349911 [GRCh38]
Chr10:48389451 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.1068C>G (p.Ser356Arg) single nucleotide variant Retinal dystrophy [RCV004813598]|not provided [RCV001046612] Chr10:47349552 [GRCh38]
Chr10:48389810 [GRCh37]
Chr10:10q11.22
uncertain significance
NC_000010.10:g.(?_48370533)_(48390877_?)del deletion not provided [RCV001032641] Chr10:48370533..48390877 [GRCh37]
Chr10:10q11.22
pathogenic
NM_002900.3(RBP3):c.1394G>A (p.Trp465Ter) single nucleotide variant not provided [RCV001047198] Chr10:47349878 [GRCh38]
Chr10:48389484 [GRCh37]
Chr10:10q11.22
pathogenic
NM_002900.3(RBP3):c.802A>T (p.Lys268Ter) single nucleotide variant not provided [RCV001069517] Chr10:47349286 [GRCh38]
Chr10:48390076 [GRCh37]
Chr10:10q11.22
pathogenic
NC_000010.10:g.(?_48370533)_(48429566_?)dup duplication not provided [RCV001033568] Chr10:48370533..48429566 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.1490A>G (p.Gln497Arg) single nucleotide variant Inborn genetic diseases [RCV004031464]|not provided [RCV001047243] Chr10:47349974 [GRCh38]
Chr10:48389388 [GRCh37]
Chr10:10q11.22
likely benign|uncertain significance
NM_002900.3(RBP3):c.2544T>A (p.Ser848Arg) single nucleotide variant not provided [RCV001049553] Chr10:47351028 [GRCh38]
Chr10:48388334 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.3245+1del deletion Retinitis pigmentosa [RCV000779027]|not provided [RCV004800583] Chr10:47353515 [GRCh38]
Chr10:48385846 [GRCh37]
Chr10:10q11.22
likely pathogenic|uncertain significance
NM_002900.3(RBP3):c.1351_1352insTCGTC (p.Ser451fs) insertion Retinitis pigmentosa [RCV000779028] Chr10:47349835..47349836 [GRCh38]
Chr10:48389526..48389527 [GRCh37]
Chr10:10q11.22
uncertain significance
GRCh37/hg19 10q11.22-11.23(chr10:48102606-50641752) copy number loss not provided [RCV000767599] Chr10:48102606..50641752 [GRCh37]
Chr10:10q11.22-11.23
pathogenic
NM_002900.3(RBP3):c.411C>T (p.Ser137=) single nucleotide variant Retinal dystrophy [RCV003890092]|not provided [RCV000939180] Chr10:47348895 [GRCh38]
Chr10:48390467 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.1333G>C (p.Asp445His) single nucleotide variant Retinal dystrophy [RCV003890093]|not provided [RCV000939710] Chr10:47349817 [GRCh38]
Chr10:48389545 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.490G>T (p.Ala164Ser) single nucleotide variant RBP3-related disorder [RCV003933074]|not provided [RCV000918127] Chr10:47348974 [GRCh38]
Chr10:48390388 [GRCh37]
Chr10:10q11.22
benign|likely benign
NM_002900.3(RBP3):c.2874G>A (p.Gly958=) single nucleotide variant not provided [RCV000971116] Chr10:47351358 [GRCh38]
Chr10:48388004 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.1503C>T (p.Ala501=) single nucleotide variant Retinitis pigmentosa [RCV001107414]|Retinitis pigmentosa [RCV002502649]|not provided [RCV000900131] Chr10:47349987 [GRCh38]
Chr10:48389375 [GRCh37]
Chr10:10q11.22
benign|likely benign
NM_002900.3(RBP3):c.729G>A (p.Ala243=) single nucleotide variant not provided [RCV000927036] Chr10:47349213 [GRCh38]
Chr10:48390149 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.1254C>T (p.Asp418=) single nucleotide variant not provided [RCV000899381] Chr10:47349738 [GRCh38]
Chr10:48389624 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.2625C>A (p.Gly875=) single nucleotide variant not provided [RCV000949336] Chr10:47351109 [GRCh38]
Chr10:48388253 [GRCh37]
Chr10:10q11.22
likely benign
GRCh37/hg19 10q11.22-11.23(chr10:46544810-51743471) copy number loss not provided [RCV000767657] Chr10:46544810..51743471 [GRCh37]
Chr10:10q11.22-11.23
pathogenic
NM_002900.3(RBP3):c.1401G>A (p.Pro467=) single nucleotide variant not provided [RCV000886027] Chr10:47349885 [GRCh38]
Chr10:48389477 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.1296G>A (p.Val432=) single nucleotide variant Retinitis pigmentosa [RCV002489347]|not provided [RCV000959912] Chr10:47349780 [GRCh38]
Chr10:48389582 [GRCh37]
Chr10:10q11.22
benign|likely benign
GRCh37/hg19 10q11.22-11.23(chr10:48252674-51830366)x3 copy number gain not provided [RCV000848290] Chr10:48252674..51830366 [GRCh37]
Chr10:10q11.22-11.23
uncertain significance
GRCh37/hg19 10q11.22-11.23(chr10:47148813-51626260)x3 copy number gain not provided [RCV000845945] Chr10:47148813..51626260 [GRCh37]
Chr10:10q11.22-11.23
pathogenic
GRCh37/hg19 10q11.22-11.23(chr10:46966533-51850064)x3 copy number gain not provided [RCV000847823] Chr10:46966533..51850064 [GRCh37]
Chr10:10q11.22-11.23
uncertain significance
GRCh37/hg19 10q11.22-11.23(chr10:46287086-51830366)x3 copy number gain not provided [RCV000848957] Chr10:46287086..51830366 [GRCh37]
Chr10:10q11.22-11.23
uncertain significance
NM_002900.3(RBP3):c.2133G>C (p.Glu711Asp) single nucleotide variant not provided [RCV000994385] Chr10:47350617 [GRCh38]
Chr10:48388745 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.2856T>C (p.Tyr952=) single nucleotide variant Retinitis pigmentosa [RCV001105544]|not provided [RCV000963252] Chr10:47351340 [GRCh38]
Chr10:48388022 [GRCh37]
Chr10:10q11.22
likely benign|uncertain significance
GRCh37/hg19 10q11.22-11.23(chr10:46235357-51874163)x1 copy number loss not provided [RCV000847130] Chr10:46235357..51874163 [GRCh37]
Chr10:10q11.22-11.23
pathogenic
GRCh37/hg19 10q11.22-11.23(chr10:46966533-51903755)x1 copy number loss not provided [RCV000847072] Chr10:46966533..51903755 [GRCh37]
Chr10:10q11.22-11.23
pathogenic
GRCh37/hg19 10q11.22-11.23(chr10:48106368-51250418)x1 copy number loss not provided [RCV000849733] Chr10:48106368..51250418 [GRCh37]
Chr10:10q11.22-11.23
pathogenic
NM_002900.3(RBP3):c.3719G>T (p.Ser1240Ile) single nucleotide variant not provided [RCV001052379] Chr10:47357432 [GRCh38]
Chr10:48381930 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.2428T>C (p.Tyr810His) single nucleotide variant Inborn genetic diseases [RCV003294102]|not provided [RCV001231008] Chr10:47350912 [GRCh38]
Chr10:48388450 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.336A>C (p.Glu112Asp) single nucleotide variant not provided [RCV001059360] Chr10:47348820 [GRCh38]
Chr10:48390542 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.3451G>A (p.Ala1151Thr) single nucleotide variant not provided [RCV001060955] Chr10:47357164 [GRCh38]
Chr10:48382198 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.3050T>A (p.Met1017Lys) single nucleotide variant Retinitis pigmentosa [RCV001199530] Chr10:47351534 [GRCh38]
Chr10:48387828 [GRCh37]
Chr10:10q11.22
pathogenic
NM_002900.3(RBP3):c.1504G>A (p.Gly502Ser) single nucleotide variant not provided [RCV001204651] Chr10:47349988 [GRCh38]
Chr10:48389374 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.1442A>C (p.Asn481Thr) single nucleotide variant not provided [RCV001239714] Chr10:47349926 [GRCh38]
Chr10:48389436 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.160C>T (p.Gln54Ter) single nucleotide variant Retinitis pigmentosa 66 [RCV001810002]|not provided [RCV001239290] Chr10:47348644 [GRCh38]
Chr10:48390718 [GRCh37]
Chr10:10q11.22
pathogenic
NM_002900.3(RBP3):c.2623G>A (p.Gly875Ser) single nucleotide variant not provided [RCV001242936] Chr10:47351107 [GRCh38]
Chr10:48388255 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.505C>G (p.Leu169Val) single nucleotide variant not provided [RCV001231924] Chr10:47348989 [GRCh38]
Chr10:48390373 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.778G>C (p.Gly260Arg) single nucleotide variant Inborn genetic diseases [RCV004034619]|not provided [RCV001239544] Chr10:47349262 [GRCh38]
Chr10:48390100 [GRCh37]
Chr10:10q11.22
uncertain significance
GRCh37/hg19 10q11.22-11.23(chr10:46321318-51595050)x1 copy number loss not provided [RCV001249414] Chr10:46321318..51595050 [GRCh37]
Chr10:10q11.22-11.23
not provided
NM_002900.3(RBP3):c.1400C>T (p.Pro467Leu) single nucleotide variant Inborn genetic diseases [RCV002563908]|not provided [RCV001238175] Chr10:47349884 [GRCh38]
Chr10:48389478 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.1782G>A (p.Pro594=) single nucleotide variant RBP3-related disorder [RCV003898206]|not provided [RCV001210262] Chr10:47350266 [GRCh38]
Chr10:48389096 [GRCh37]
Chr10:10q11.22
likely benign|uncertain significance
NM_002900.3(RBP3):c.865C>T (p.Leu289Phe) single nucleotide variant Inborn genetic diseases [RCV004960583]|not provided [RCV001225460] Chr10:47349349 [GRCh38]
Chr10:48390013 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.3388+5G>A single nucleotide variant not provided [RCV001225467] Chr10:47355523 [GRCh38]
Chr10:48383839 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.1538G>A (p.Arg513His) single nucleotide variant not provided [RCV001226658] Chr10:47350022 [GRCh38]
Chr10:48389340 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.2330C>T (p.Ala777Val) single nucleotide variant Inborn genetic diseases [RCV004034576]|not provided [RCV001238392] Chr10:47350814 [GRCh38]
Chr10:48388548 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.2575A>G (p.Met859Val) single nucleotide variant not provided [RCV001204211] Chr10:47351059 [GRCh38]
Chr10:48388303 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.1216G>A (p.Glu406Lys) single nucleotide variant Retinal dystrophy [RCV003887932]|not provided [RCV001232613] Chr10:47349700 [GRCh38]
Chr10:48389662 [GRCh37]
Chr10:10q11.22
likely benign|uncertain significance
NM_002900.3(RBP3):c.445G>T (p.Glu149Ter) single nucleotide variant Retinal dystrophy [RCV003890354]|not provided [RCV001207673] Chr10:47348929 [GRCh38]
Chr10:48390433 [GRCh37]
Chr10:10q11.22
pathogenic
NM_002900.3(RBP3):c.2137G>C (p.Ala713Pro) single nucleotide variant not provided [RCV001229141] Chr10:47350621 [GRCh38]
Chr10:48388741 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.760G>T (p.Val254Leu) single nucleotide variant not provided [RCV001212526] Chr10:47349244 [GRCh38]
Chr10:48390118 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.2362A>G (p.Ser788Gly) single nucleotide variant Inborn genetic diseases [RCV003346250]|not provided [RCV000994384] Chr10:47350846 [GRCh38]
Chr10:48388516 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.2402T>C (p.Phe801Ser) single nucleotide variant not provided [RCV000994383] Chr10:47350886 [GRCh38]
Chr10:48388476 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.3622G>A (p.Gly1208Arg) single nucleotide variant not provided [RCV000994382] Chr10:47357335 [GRCh38]
Chr10:48382027 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.2497C>A (p.Arg833Ser) single nucleotide variant Retinitis pigmentosa [RCV001106687] Chr10:47350981 [GRCh38]
Chr10:48388381 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.1647G>A (p.Ala549=) single nucleotide variant Retinitis pigmentosa [RCV001106780] Chr10:47350131 [GRCh38]
Chr10:48389231 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.1870G>A (p.Asp624Asn) single nucleotide variant not provided [RCV001247502] Chr10:47350354 [GRCh38]
Chr10:48389008 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.1264C>T (p.Arg422Trp) single nucleotide variant Retinitis pigmentosa [RCV001107416] Chr10:47349748 [GRCh38]
Chr10:48389614 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.3376G>A (p.Ala1126Thr) single nucleotide variant not provided [RCV001052927] Chr10:47355506 [GRCh38]
Chr10:48383856 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.2184C>T (p.Tyr728=) single nucleotide variant Retinitis pigmentosa [RCV001108853]|not provided [RCV001457795] Chr10:47350668 [GRCh38]
Chr10:48388694 [GRCh37]
Chr10:10q11.22
likely benign|uncertain significance
NM_002900.3(RBP3):c.1258_1259delinsTA (p.Ala420Tyr) indel not provided [RCV001246975] Chr10:47349742..47349743 [GRCh38]
Chr10:48389619..48389620 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.2789T>C (p.Ile930Thr) single nucleotide variant Retinitis pigmentosa [RCV001197952] Chr10:47351273 [GRCh38]
Chr10:48388089 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.2348G>A (p.Arg783His) single nucleotide variant Retinal dystrophy [RCV004814075] Chr10:47350832 [GRCh38]
Chr10:48388530 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.2909G>C (p.Ser970Thr) single nucleotide variant Inborn genetic diseases [RCV002571272]|not provided [RCV001963939] Chr10:47351393 [GRCh38]
Chr10:48387969 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.3546C>T (p.His1182=) single nucleotide variant Retinitis pigmentosa [RCV001103602]|not provided [RCV000886089] Chr10:47357259 [GRCh38]
Chr10:48382103 [GRCh37]
Chr10:10q11.22
benign
NM_002900.3(RBP3):c.1635C>A (p.Thr545=) single nucleotide variant not provided [RCV000909275] Chr10:47350119 [GRCh38]
Chr10:48389243 [GRCh37]
Chr10:10q11.22
benign
NM_002900.3(RBP3):c.1332C>T (p.Phe444=) single nucleotide variant not provided [RCV000908093] Chr10:47349816 [GRCh38]
Chr10:48389546 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.1770G>A (p.Ala590=) single nucleotide variant Retinal dystrophy [RCV003890144]|not provided [RCV000981533] Chr10:47350254 [GRCh38]
Chr10:48389108 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.2118C>A (p.Gly706=) single nucleotide variant not provided [RCV000933459] Chr10:47350602 [GRCh38]
Chr10:48388760 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.1776C>T (p.Thr592=) single nucleotide variant Retinitis pigmentosa [RCV001105650]|not provided [RCV002067783] Chr10:47350260 [GRCh38]
Chr10:48389102 [GRCh37]
Chr10:10q11.22
likely benign|uncertain significance
NM_002900.3(RBP3):c.2341G>C (p.Asp781His) single nucleotide variant not provided [RCV001207193] Chr10:47350825 [GRCh38]
Chr10:48388537 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.1084G>T (p.Val362Leu) single nucleotide variant not provided [RCV001235558] Chr10:47349568 [GRCh38]
Chr10:48389794 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.1923G>T (p.Glu641Asp) single nucleotide variant not provided [RCV001244229] Chr10:47350407 [GRCh38]
Chr10:48388955 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.3716G>A (p.Arg1239Gln) single nucleotide variant not provided [RCV001244441] Chr10:47357429 [GRCh38]
Chr10:48381933 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.1077C>A (p.Phe359Leu) single nucleotide variant not provided [RCV001244449] Chr10:47349561 [GRCh38]
Chr10:48389801 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.2871G>A (p.Leu957=) single nucleotide variant not provided [RCV001239152] Chr10:47351355 [GRCh38]
Chr10:48388007 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.3340C>T (p.Arg1114Trp) single nucleotide variant not provided [RCV001231983] Chr10:47355470 [GRCh38]
Chr10:48383892 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.3374A>G (p.His1125Arg) single nucleotide variant not provided [RCV001243064] Chr10:47355504 [GRCh38]
Chr10:48383858 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.866T>C (p.Leu289Pro) single nucleotide variant not provided [RCV001243089] Chr10:47349350 [GRCh38]
Chr10:48390012 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.93G>A (p.Met31Ile) single nucleotide variant not provided [RCV001239489] Chr10:47348577 [GRCh38]
Chr10:48390785 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.685G>T (p.Val229Phe) single nucleotide variant not provided [RCV001245000] Chr10:47349169 [GRCh38]
Chr10:48390193 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.749G>A (p.Arg250His) single nucleotide variant Retinitis pigmentosa 66 [RCV001535739]|not provided [RCV001202141] Chr10:47349233 [GRCh38]
Chr10:48390129 [GRCh37]
Chr10:10q11.22
uncertain significance|not provided
NM_002900.3(RBP3):c.2936T>A (p.Val979Glu) single nucleotide variant not provided [RCV001239917] Chr10:47351420 [GRCh38]
Chr10:48387942 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.2092C>G (p.Arg698Gly) single nucleotide variant not provided [RCV001243862] Chr10:47350576 [GRCh38]
Chr10:48388786 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.1958G>A (p.Arg653Gln) single nucleotide variant Inborn genetic diseases [RCV004031683]|not provided [RCV001053364] Chr10:47350442 [GRCh38]
Chr10:48388920 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.1258G>A (p.Ala420Thr) single nucleotide variant not provided [RCV001240649] Chr10:47349742 [GRCh38]
Chr10:48389620 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.1733C>A (p.Thr578Lys) single nucleotide variant Inborn genetic diseases [RCV004031837]|not provided [RCV001058126] Chr10:47350217 [GRCh38]
Chr10:48389145 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.860G>A (p.Gly287Glu) single nucleotide variant not provided [RCV001237979] Chr10:47349344 [GRCh38]
Chr10:48390018 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.1636_1637delinsAA (p.Ala546Asn) indel not provided [RCV001209928] Chr10:47350120..47350121 [GRCh38]
Chr10:48389241..48389242 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.664G>A (p.Gly222Ser) single nucleotide variant not provided [RCV001238272] Chr10:47349148 [GRCh38]
Chr10:48390214 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.2118C>T (p.Gly706=) single nucleotide variant not provided [RCV001244083] Chr10:47350602 [GRCh38]
Chr10:48388760 [GRCh37]
Chr10:10q11.22
likely benign|uncertain significance
NM_002900.3(RBP3):c.188G>A (p.Ser63Asn) single nucleotide variant not provided [RCV001244023] Chr10:47348672 [GRCh38]
Chr10:48390690 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.625G>A (p.Glu209Lys) single nucleotide variant Inborn genetic diseases [RCV002568544]|not provided [RCV001241775] Chr10:47349109 [GRCh38]
Chr10:48390253 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.924G>A (p.Pro308=) single nucleotide variant Retinitis pigmentosa [RCV001105737]|not provided [RCV000889648] Chr10:47349408 [GRCh38]
Chr10:48389954 [GRCh37]
Chr10:10q11.22
benign
NM_002900.3(RBP3):c.1464T>C (p.Ala488=) single nucleotide variant not provided [RCV000912362] Chr10:47349948 [GRCh38]
Chr10:48389414 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.3432C>A (p.Ser1144Arg) single nucleotide variant Retinal dystrophy [RCV004815935] Chr10:47357145 [GRCh38]
Chr10:48382217 [GRCh37]
Chr10:10q11.22
uncertain significance
GRCh37/hg19 10q11.22(chr10:47062985-48769625)x3 copy number gain not provided [RCV002472913] Chr10:47062985..48769625 [GRCh37]
Chr10:10q11.22
uncertain significance
GRCh37/hg19 10q11.22-11.23(chr10:48252675-51861565)x1 copy number loss not provided [RCV002472619] Chr10:48252675..51861565 [GRCh37]
Chr10:10q11.22-11.23
likely pathogenic
NM_002900.3(RBP3):c.759C>G (p.Ile253Met) single nucleotide variant Retinal dystrophy [RCV004814402] Chr10:47349243 [GRCh38]
Chr10:48390119 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.1366T>A (p.Leu456Met) single nucleotide variant Retinal dystrophy [RCV004818790] Chr10:47349850 [GRCh38]
Chr10:48389512 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.3444C>T (p.Ala1148=) single nucleotide variant not provided [RCV001727937]|not specified [RCV001698890] Chr10:47357157 [GRCh38]
Chr10:48382205 [GRCh37]
Chr10:10q11.22
benign|likely benign
NM_002900.3(RBP3):c.2898C>T (p.Ser966=) single nucleotide variant Retinal dystrophy [RCV003890248]|Retinitis pigmentosa [RCV001105543]|not provided [RCV001523422] Chr10:47351382 [GRCh38]
Chr10:48387980 [GRCh37]
Chr10:10q11.22
benign|likely benign
NM_002900.3(RBP3):c.1013A>G (p.Lys338Arg) single nucleotide variant not provided [RCV001068379] Chr10:47349497 [GRCh38]
Chr10:48389865 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.971G>T (p.Ser324Ile) single nucleotide variant Retinitis pigmentosa [RCV001105733] Chr10:47349455 [GRCh38]
Chr10:48389907 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.967C>T (p.Arg323Cys) single nucleotide variant Inborn genetic diseases [RCV004960455]|Retinitis pigmentosa [RCV001105734]|not provided [RCV001856421] Chr10:47349451 [GRCh38]
Chr10:48389911 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.590A>G (p.Asp197Gly) single nucleotide variant Retinitis pigmentosa [RCV001106851] Chr10:47349074 [GRCh38]
Chr10:48390288 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.579C>T (p.Ile193=) single nucleotide variant Retinitis pigmentosa [RCV001106852]|not provided [RCV001483780] Chr10:47349063 [GRCh38]
Chr10:48390299 [GRCh37]
Chr10:10q11.22
likely benign|uncertain significance
NM_002900.3(RBP3):c.*219C>T single nucleotide variant Retinitis pigmentosa [RCV001108763]|not provided [RCV004707537] Chr10:47357676 [GRCh38]
Chr10:48381686 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.*116A>C single nucleotide variant Retinitis pigmentosa [RCV001108764] Chr10:47357573 [GRCh38]
Chr10:48381789 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.604C>T (p.Arg202Cys) single nucleotide variant not provided [RCV001062718] Chr10:47349088 [GRCh38]
Chr10:48390274 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.1864G>T (p.Ala622Ser) single nucleotide variant not provided [RCV001062592] Chr10:47350348 [GRCh38]
Chr10:48389014 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.1588C>T (p.Arg530Cys) single nucleotide variant Inborn genetic diseases [RCV004032121]|Retinal dystrophy [RCV003890249]|Retinitis pigmentosa [RCV001106783]|not provided [RCV001856430] Chr10:47350072 [GRCh38]
Chr10:48389290 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.2762G>A (p.Ser921Asn) single nucleotide variant not provided [RCV001060786] Chr10:47351246 [GRCh38]
Chr10:48388116 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.1408del (p.Asp470fs) deletion Retinitis pigmentosa 66 [RCV001078178] Chr10:47349891 [GRCh38]
Chr10:48389470 [GRCh37]
Chr10:10q11.22
likely pathogenic
NM_002900.3(RBP3):c.*226C>G single nucleotide variant Retinitis pigmentosa [RCV001108762] Chr10:47357683 [GRCh38]
Chr10:48381679 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.3157G>A (p.Gly1053Ser) single nucleotide variant Inborn genetic diseases [RCV002555873]|not provided [RCV001068846] Chr10:47353427 [GRCh38]
Chr10:48385935 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.934G>A (p.Ala312Thr) single nucleotide variant Retinitis pigmentosa [RCV001105736]|not provided [RCV001856422] Chr10:47349418 [GRCh38]
Chr10:48389944 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.3670G>T (p.Ala1224Ser) single nucleotide variant Inborn genetic diseases [RCV004960524]|not provided [RCV001203028] Chr10:47357383 [GRCh38]
Chr10:48381979 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.416C>T (p.Pro139Leu) single nucleotide variant Inborn genetic diseases [RCV002551453]|not provided [RCV001039667] Chr10:47348900 [GRCh38]
Chr10:48390462 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.176A>G (p.His59Arg) single nucleotide variant not provided [RCV001047353] Chr10:47348660 [GRCh38]
Chr10:48390702 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.1756G>A (p.Glu586Lys) single nucleotide variant Inborn genetic diseases [RCV002563212]|Retinitis pigmentosa 66 [RCV003132313]|not provided [RCV001231898] Chr10:47350240 [GRCh38]
Chr10:48389122 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.910T>C (p.Cys304Arg) single nucleotide variant not provided [RCV001229917] Chr10:47349394 [GRCh38]
Chr10:48389968 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.2296C>T (p.Arg766Trp) single nucleotide variant not provided [RCV001234789] Chr10:47350780 [GRCh38]
Chr10:48388582 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.467G>C (p.Trp156Ser) single nucleotide variant Retinitis pigmentosa [RCV001199531] Chr10:47348951 [GRCh38]
Chr10:48390411 [GRCh37]
Chr10:10q11.22
pathogenic
NM_002900.3(RBP3):c.3452C>T (p.Ala1151Val) single nucleotide variant Retinal dystrophy [RCV001074742] Chr10:47357165 [GRCh38]
Chr10:48382197 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.2570A>C (p.His857Pro) single nucleotide variant Retinal dystrophy [RCV001074743] Chr10:47351054 [GRCh38]
Chr10:48388308 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.632G>A (p.Trp211Ter) single nucleotide variant Retinal dystrophy [RCV003890174]|not provided [RCV001040624] Chr10:47349116 [GRCh38]
Chr10:48390246 [GRCh37]
Chr10:10q11.22
pathogenic|uncertain significance
NM_002900.3(RBP3):c.2129T>C (p.Val710Ala) single nucleotide variant not provided [RCV001048592] Chr10:47350613 [GRCh38]
Chr10:48388749 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.3511A>T (p.Thr1171Ser) single nucleotide variant not provided [RCV001230136] Chr10:47357224 [GRCh38]
Chr10:48382138 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.2816C>G (p.Thr939Arg) single nucleotide variant not provided [RCV001230163] Chr10:47351300 [GRCh38]
Chr10:48388062 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.2900G>T (p.Gly967Val) single nucleotide variant Inborn genetic diseases [RCV002554557]|not provided [RCV001069007] Chr10:47351384 [GRCh38]
Chr10:48387978 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.3029G>A (p.Arg1010His) single nucleotide variant not provided [RCV001040834] Chr10:47351513 [GRCh38]
Chr10:48387849 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.2023A>G (p.Thr675Ala) single nucleotide variant Inborn genetic diseases [RCV004671193]|not provided [RCV001049175] Chr10:47350507 [GRCh38]
Chr10:48388855 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.1781C>G (p.Pro594Arg) single nucleotide variant not provided [RCV001041743] Chr10:47350265 [GRCh38]
Chr10:48389097 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.779G>A (p.Gly260Glu) single nucleotide variant not provided [RCV001230460] Chr10:47349263 [GRCh38]
Chr10:48390099 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.3602C>T (p.Ser1201Leu) single nucleotide variant not provided [RCV001051143] Chr10:47357315 [GRCh38]
Chr10:48382047 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.2360G>A (p.Gly787Asp) single nucleotide variant not provided [RCV001208730] Chr10:47350844 [GRCh38]
Chr10:48388518 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.3377C>T (p.Ala1126Val) single nucleotide variant not provided [RCV001034888] Chr10:47355507 [GRCh38]
Chr10:48383855 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.2320G>A (p.Asp774Asn) single nucleotide variant Inborn genetic diseases [RCV002561835]|not provided [RCV001214010] Chr10:47350804 [GRCh38]
Chr10:48388558 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.2991C>A (p.His997Gln) single nucleotide variant Inborn genetic diseases [RCV002554452]|not provided [RCV001063058] Chr10:47351475 [GRCh38]
Chr10:48387887 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.1645G>A (p.Ala549Thr) single nucleotide variant not provided [RCV001204943] Chr10:47350129 [GRCh38]
Chr10:48389233 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.1969G>A (p.Val657Met) single nucleotide variant Retinal dystrophy [RCV003887940]|not provided [RCV001236326] Chr10:47350453 [GRCh38]
Chr10:48388909 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.1271C>T (p.Ala424Val) single nucleotide variant Inborn genetic diseases [RCV002553121]|not provided [RCV001045402] Chr10:47349755 [GRCh38]
Chr10:48389607 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.3363A>G (p.Glu1121=) single nucleotide variant Retinitis pigmentosa [RCV001105542]|not provided [RCV002556077] Chr10:47355493 [GRCh38]
Chr10:48383869 [GRCh37]
Chr10:10q11.22
likely benign|uncertain significance
NM_002900.3(RBP3):c.288del (p.Glu97fs) deletion not provided [RCV001234247] Chr10:47348768 [GRCh38]
Chr10:48390590 [GRCh37]
Chr10:10q11.22
pathogenic
NC_000010.10:g.(?_48370533)_(48438710_?)dup duplication not provided [RCV001033056] Chr10:48370533..48438710 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.1008C>T (p.Val336=) single nucleotide variant Retinitis pigmentosa [RCV001105732] Chr10:47349492 [GRCh38]
Chr10:48389870 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.3005A>T (p.His1002Leu) single nucleotide variant not provided [RCV001036587] Chr10:47351489 [GRCh38]
Chr10:48387873 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.3091T>C (p.Phe1031Leu) single nucleotide variant not provided [RCV001229070] Chr10:47353361 [GRCh38]
Chr10:48386001 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.3382G>A (p.Val1128Ile) single nucleotide variant Retinitis pigmentosa [RCV001103603] Chr10:47355512 [GRCh38]
Chr10:48383850 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.1294G>C (p.Val432Leu) single nucleotide variant Retinitis pigmentosa [RCV001107415] Chr10:47349778 [GRCh38]
Chr10:48389584 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.-83G>A single nucleotide variant Retinitis pigmentosa [RCV001107521] Chr10:47348402 [GRCh38]
Chr10:48390960 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.2156C>T (p.Ala719Val) single nucleotide variant Retinal dystrophy [RCV001074925]|not provided [RCV001057281] Chr10:47350640 [GRCh38]
Chr10:48388722 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.2523C>G (p.Tyr841Ter) single nucleotide variant Retinal dystrophy [RCV001073631]|not provided [RCV001241759] Chr10:47351007 [GRCh38]
Chr10:48388355 [GRCh37]
Chr10:10q11.22
pathogenic|likely pathogenic
NM_002900.3(RBP3):c.3637C>T (p.Pro1213Ser) single nucleotide variant Retinal dystrophy [RCV001073632]|not provided [RCV001228185] Chr10:47357350 [GRCh38]
Chr10:48382012 [GRCh37]
Chr10:10q11.22
conflicting interpretations of pathogenicity|uncertain significance
NM_002900.3(RBP3):c.3667C>T (p.Leu1223Phe) single nucleotide variant Retinitis pigmentosa [RCV001103600]|not provided [RCV001038996] Chr10:47357380 [GRCh38]
Chr10:48381982 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.773G>A (p.Arg258Gln) single nucleotide variant Inborn genetic diseases [RCV004033901]|not provided [RCV001213674] Chr10:47349257 [GRCh38]
Chr10:48390105 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.*266C>G single nucleotide variant Retinitis pigmentosa [RCV001108761] Chr10:47357723 [GRCh38]
Chr10:48381639 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.2327C>A (p.Ala776Asp) single nucleotide variant Retinitis pigmentosa [RCV001108852] Chr10:47350811 [GRCh38]
Chr10:48388551 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.2597C>T (p.Thr866Met) single nucleotide variant Inborn genetic diseases [RCV004031118]|Retinal dystrophy [RCV003890171]|not provided [RCV001039779] Chr10:47351081 [GRCh38]
Chr10:48388281 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.938T>C (p.Leu313Pro) single nucleotide variant not provided [RCV001205357] Chr10:47349422 [GRCh38]
Chr10:48389940 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.3715C>T (p.Arg1239Trp) single nucleotide variant not provided [RCV001204659] Chr10:47357428 [GRCh38]
Chr10:48381934 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.3388+4C>T single nucleotide variant Retinal dystrophy [RCV004813934]|not provided [RCV001231707] Chr10:47355522 [GRCh38]
Chr10:48383840 [GRCh37]
Chr10:10q11.22
uncertain significance
GRCh37/hg19 10q11.22-11.23(chr10:46964973-51826226) copy number loss 10q11.22q11.23 microdeletion including CHAT and SLC18A3 [RCV001255694] Chr10:46964973..51826226 [GRCh37]
Chr10:10q11.22-11.23
pathogenic
GRCh37/hg19 10q11.22-11.23(chr10:47132305-51627470)x1 copy number loss not provided [RCV001260090] Chr10:47132305..51627470 [GRCh37]
Chr10:10q11.22-11.23
likely pathogenic
NM_002900.3(RBP3):c.682G>A (p.Val228Met) single nucleotide variant not provided [RCV001304345] Chr10:47349166 [GRCh38]
Chr10:48390196 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.1162C>T (p.Arg388Ter) single nucleotide variant Autosomal recessive retinitis pigmentosa [RCV001257783]|Retinitis pigmentosa 66 [RCV001376320]|not provided [RCV003558771] Chr10:47349646 [GRCh38]
Chr10:48389716 [GRCh37]
Chr10:10q11.22
pathogenic|conflicting interpretations of pathogenicity
NM_002900.3(RBP3):c.229G>A (p.Gly77Arg) single nucleotide variant Inborn genetic diseases [RCV004953287]|not provided [RCV001908187] Chr10:47348713 [GRCh38]
Chr10:48390649 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.527A>G (p.Gln176Arg) single nucleotide variant not provided [RCV001889560] Chr10:47349011 [GRCh38]
Chr10:48390351 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.1163G>A (p.Arg388Gln) single nucleotide variant Inborn genetic diseases [RCV002564334]|Retinal dystrophy [RCV003888938]|not provided [RCV002002151] Chr10:47349647 [GRCh38]
Chr10:48389715 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.1076T>C (p.Phe359Ser) single nucleotide variant Inborn genetic diseases [RCV004036544]|not provided [RCV001348173] Chr10:47349560 [GRCh38]
Chr10:48389802 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.2021G>A (p.Arg674His) single nucleotide variant Retinal dystrophy [RCV004815306]|not provided [RCV001304028] Chr10:47350505 [GRCh38]
Chr10:48388857 [GRCh37]
Chr10:10q11.22
uncertain significance
GRCh37/hg19 10q11.22-11.23(chr10:48301535-51807296)x3 copy number gain not provided [RCV001537904] Chr10:48301535..51807296 [GRCh37]
Chr10:10q11.22-11.23
pathogenic
NM_002900.3(RBP3):c.923C>T (p.Pro308Leu) single nucleotide variant not provided [RCV001963864] Chr10:47349407 [GRCh38]
Chr10:48389955 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.2257G>A (p.Glu753Lys) single nucleotide variant not provided [RCV001297323] Chr10:47350741 [GRCh38]
Chr10:48388621 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.1764C>A (p.Ser588Arg) single nucleotide variant Inborn genetic diseases [RCV003294280]|not provided [RCV001319728] Chr10:47350248 [GRCh38]
Chr10:48389114 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.2240G>A (p.Arg747His) single nucleotide variant Inborn genetic diseases [RCV002543110]|Retinitis pigmentosa 66 [RCV003135941]|not provided [RCV001304765] Chr10:47350724 [GRCh38]
Chr10:48388638 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.412G>A (p.Val138Ile) single nucleotide variant not provided [RCV001295986] Chr10:47348896 [GRCh38]
Chr10:48390466 [GRCh37]
Chr10:10q11.22
uncertain significance
NC_000010.10:g.(?_48383844)_(48386037_?)del deletion not provided [RCV001295587] Chr10:48383844..48386037 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.5T>C (p.Met2Thr) single nucleotide variant not provided [RCV001307028] Chr10:47348489 [GRCh38]
Chr10:48390873 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.3707G>T (p.Arg1236Met) single nucleotide variant not provided [RCV001301412] Chr10:47357420 [GRCh38]
Chr10:48381942 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.3415A>G (p.Met1139Val) single nucleotide variant not provided [RCV001320057] Chr10:47357128 [GRCh38]
Chr10:48382234 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.435C>T (p.Ser145=) single nucleotide variant not provided [RCV001307532] Chr10:47348919 [GRCh38]
Chr10:48390443 [GRCh37]
Chr10:10q11.22
likely benign|uncertain significance
NM_002900.3(RBP3):c.1636G>A (p.Ala546Thr) single nucleotide variant not provided [RCV001307688] Chr10:47350120 [GRCh38]
Chr10:48389242 [GRCh37]
Chr10:10q11.22
uncertain significance
GRCh37/hg19 10q11.22-11.23(chr10:46966535-51874356)x1 copy number loss not provided [RCV001281356] Chr10:46966535..51874356 [GRCh37]
Chr10:10q11.22-11.23
likely pathogenic
NM_002900.3(RBP3):c.1186C>G (p.Pro396Ala) single nucleotide variant not provided [RCV001317698] Chr10:47349670 [GRCh38]
Chr10:48389692 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.299C>A (p.Pro100Gln) single nucleotide variant not provided [RCV001307267] Chr10:47348783 [GRCh38]
Chr10:48390579 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.412_414del (p.Val138del) deletion not provided [RCV001320510] Chr10:47348895..47348897 [GRCh38]
Chr10:48390464..48390466 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.1919T>G (p.Val640Gly) single nucleotide variant not provided [RCV001298543] Chr10:47350403 [GRCh38]
Chr10:48388959 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.2971A>T (p.Met991Leu) single nucleotide variant not provided [RCV001320869] Chr10:47351455 [GRCh38]
Chr10:48387907 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.2107C>T (p.His703Tyr) single nucleotide variant Inborn genetic diseases [RCV002547410]|not provided [RCV001341739] Chr10:47350591 [GRCh38]
Chr10:48388771 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.2672C>T (p.Ala891Val) single nucleotide variant not provided [RCV001308629] Chr10:47351156 [GRCh38]
Chr10:48388206 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.2625C>T (p.Gly875=) single nucleotide variant not provided [RCV001317867] Chr10:47351109 [GRCh38]
Chr10:48388253 [GRCh37]
Chr10:10q11.22
likely benign|uncertain significance
NM_002900.3(RBP3):c.1708G>A (p.Ala570Thr) single nucleotide variant not provided [RCV001320399] Chr10:47350192 [GRCh38]
Chr10:48389170 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.2624G>A (p.Gly875Asp) single nucleotide variant not provided [RCV001314991] Chr10:47351108 [GRCh38]
Chr10:48388254 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.293C>T (p.Pro98Leu) single nucleotide variant not provided [RCV001321362] Chr10:47348777 [GRCh38]
Chr10:48390585 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.514T>C (p.Cys172Arg) single nucleotide variant not provided [RCV001321382] Chr10:47348998 [GRCh38]
Chr10:48390364 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.501G>A (p.Leu167=) single nucleotide variant not provided [RCV001340874] Chr10:47348985 [GRCh38]
Chr10:48390377 [GRCh37]
Chr10:10q11.22
likely benign|uncertain significance
NM_002900.3(RBP3):c.2888C>A (p.Thr963Asn) single nucleotide variant not provided [RCV001296542] Chr10:47351372 [GRCh38]
Chr10:48387990 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.2974C>T (p.Leu992Phe) single nucleotide variant Inborn genetic diseases [RCV003373098]|not provided [RCV001296631] Chr10:47351458 [GRCh38]
Chr10:48387904 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.1328G>A (p.Arg443His) single nucleotide variant Retinal dystrophy [RCV004815392]|not provided [RCV001337419] Chr10:47349812 [GRCh38]
Chr10:48389550 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.2278G>A (p.Val760Met) single nucleotide variant not provided [RCV001316302] Chr10:47350762 [GRCh38]
Chr10:48388600 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.3243G>C (p.Met1081Ile) single nucleotide variant not provided [RCV001341172] Chr10:47353513 [GRCh38]
Chr10:48385849 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.2206A>G (p.Thr736Ala) single nucleotide variant not provided [RCV001296791] Chr10:47350690 [GRCh38]
Chr10:48388672 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.2699G>T (p.Ser900Ile) single nucleotide variant not provided [RCV001322014] Chr10:47351183 [GRCh38]
Chr10:48388179 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.1286T>C (p.Val429Ala) single nucleotide variant not provided [RCV001313729] Chr10:47349770 [GRCh38]
Chr10:48389592 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.3095C>T (p.Ser1032Phe) single nucleotide variant not provided [RCV001352265] Chr10:47353365 [GRCh38]
Chr10:48385997 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.3054+16G>T single nucleotide variant not provided [RCV001415186] Chr10:47351554 [GRCh38]
Chr10:48387808 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.3026A>T (p.Asp1009Val) single nucleotide variant Retinal dystrophy [RCV004815381]|not provided [RCV001326824] Chr10:47351510 [GRCh38]
Chr10:48387852 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.1869G>A (p.Leu623=) single nucleotide variant not provided [RCV001432975] Chr10:47350353 [GRCh38]
Chr10:48389009 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.1450G>A (p.Gly484Arg) single nucleotide variant not provided [RCV001295699] Chr10:47349934 [GRCh38]
Chr10:48389428 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.2273A>G (p.Lys758Arg) single nucleotide variant not provided [RCV001307193] Chr10:47350757 [GRCh38]
Chr10:48388605 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.3546C>A (p.His1182Gln) single nucleotide variant not provided [RCV001372652] Chr10:47357259 [GRCh38]
Chr10:48382103 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.3440C>T (p.Thr1147Met) single nucleotide variant not provided [RCV001368274] Chr10:47357153 [GRCh38]
Chr10:48382209 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.670G>A (p.Asp224Asn) single nucleotide variant not provided [RCV001351041] Chr10:47349154 [GRCh38]
Chr10:48390208 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.815G>T (p.Gly272Val) single nucleotide variant not provided [RCV001305589] Chr10:47349299 [GRCh38]
Chr10:48390063 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.1613A>G (p.Tyr538Cys) single nucleotide variant not provided [RCV001307536] Chr10:47350097 [GRCh38]
Chr10:48389265 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.1036C>G (p.Arg346Gly) single nucleotide variant not provided [RCV001369481] Chr10:47349520 [GRCh38]
Chr10:48389842 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.1599C>T (p.Thr533=) single nucleotide variant not provided [RCV001433908] Chr10:47350083 [GRCh38]
Chr10:48389279 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.299C>G (p.Pro100Arg) single nucleotide variant not provided [RCV001360120] Chr10:47348783 [GRCh38]
Chr10:48390579 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.1682_1686dup (p.Thr563fs) duplication Retinitis pigmentosa 66 [RCV001376430]|not provided [RCV001865899] Chr10:47350165..47350166 [GRCh38]
Chr10:48389191..48389192 [GRCh37]
Chr10:10q11.22
pathogenic|likely pathogenic
NM_002900.3(RBP3):c.1730G>A (p.Arg577His) single nucleotide variant Inborn genetic diseases [RCV004960744]|not provided [RCV001313567] Chr10:47350214 [GRCh38]
Chr10:48389148 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.1042C>T (p.Pro348Ser) single nucleotide variant Inborn genetic diseases [RCV004952851]|not provided [RCV001372958] Chr10:47349526 [GRCh38]
Chr10:48389836 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.1171G>A (p.Gly391Arg) single nucleotide variant Inborn genetic diseases [RCV003298573]|not provided [RCV001362043] Chr10:47349655 [GRCh38]
Chr10:48389707 [GRCh37]
Chr10:10q11.22
likely benign|uncertain significance
NM_002900.3(RBP3):c.1101T>A (p.Asp367Glu) single nucleotide variant not provided [RCV001313262] Chr10:47349585 [GRCh38]
Chr10:48389777 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.2580G>T (p.Gln860His) single nucleotide variant not provided [RCV001301295] Chr10:47351064 [GRCh38]
Chr10:48388298 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.332A>G (p.Glu111Gly) single nucleotide variant not provided [RCV001303135] Chr10:47348816 [GRCh38]
Chr10:48390546 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.2590C>T (p.Arg864Trp) single nucleotide variant Inborn genetic diseases [RCV004960817]|not provided [RCV001340594] Chr10:47351074 [GRCh38]
Chr10:48388288 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.1580C>T (p.Pro527Leu) single nucleotide variant not provided [RCV001322872] Chr10:47350064 [GRCh38]
Chr10:48389298 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.2067C>A (p.Asp689Glu) single nucleotide variant Inborn genetic diseases [RCV002550009]|not provided [RCV001360471] Chr10:47350551 [GRCh38]
Chr10:48388811 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.3419T>C (p.Val1140Ala) single nucleotide variant not provided [RCV001342130] Chr10:47357132 [GRCh38]
Chr10:48382230 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.2576T>C (p.Met859Thr) single nucleotide variant not provided [RCV001315699] Chr10:47351060 [GRCh38]
Chr10:48388302 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.2119G>A (p.Glu707Lys) single nucleotide variant not provided [RCV001346807] Chr10:47350603 [GRCh38]
Chr10:48388759 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.2324C>T (p.Thr775Met) single nucleotide variant Retinal dystrophy [RCV003888016]|not provided [RCV001314703] Chr10:47350808 [GRCh38]
Chr10:48388554 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.2882T>C (p.Met961Thr) single nucleotide variant not provided [RCV001316650] Chr10:47351366 [GRCh38]
Chr10:48387996 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.2617G>A (p.Ala873Thr) single nucleotide variant not provided [RCV001309780] Chr10:47351101 [GRCh38]
Chr10:48388261 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.769G>C (p.Glu257Gln) single nucleotide variant not provided [RCV001322002] Chr10:47349253 [GRCh38]
Chr10:48390109 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.1532A>T (p.Asp511Val) single nucleotide variant Inborn genetic diseases [RCV002543618]|Retinitis pigmentosa 66 [RCV001535721]|not provided [RCV001313119] Chr10:47350016 [GRCh38]
Chr10:48389346 [GRCh37]
Chr10:10q11.22
uncertain significance|not provided
NM_002900.3(RBP3):c.2221G>C (p.Gly741Arg) single nucleotide variant not provided [RCV001327513] Chr10:47350705 [GRCh38]
Chr10:48388657 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.1282T>C (p.Ser428Pro) single nucleotide variant not provided [RCV001301907] Chr10:47349766 [GRCh38]
Chr10:48389596 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.3624G>T (p.Gly1208=) single nucleotide variant not provided [RCV001347100] Chr10:47357337 [GRCh38]
Chr10:48382025 [GRCh37]
Chr10:10q11.22
likely benign|uncertain significance
NM_002900.3(RBP3):c.3497T>C (p.Val1166Ala) single nucleotide variant not provided [RCV001373994] Chr10:47357210 [GRCh38]
Chr10:48382152 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.1559A>T (p.His520Leu) single nucleotide variant not provided [RCV001344081] Chr10:47350043 [GRCh38]
Chr10:48389319 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.3394C>T (p.Arg1132Cys) single nucleotide variant not provided [RCV001296256] Chr10:47357107 [GRCh38]
Chr10:48382255 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.2621G>A (p.Gly874Glu) single nucleotide variant Inborn genetic diseases [RCV002546229]|not provided [RCV001327675] Chr10:47351105 [GRCh38]
Chr10:48388257 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.884C>T (p.Thr295Met) single nucleotide variant Inborn genetic diseases [RCV003346498]|not provided [RCV001344119] Chr10:47349368 [GRCh38]
Chr10:48389994 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.2498G>A (p.Arg833His) single nucleotide variant Inborn genetic diseases [RCV002546091]|Retinal dystrophy [RCV004815373]|not provided [RCV001322215] Chr10:47350982 [GRCh38]
Chr10:48388380 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.469G>A (p.Gly157Arg) single nucleotide variant not provided [RCV001347384] Chr10:47348953 [GRCh38]
Chr10:48390409 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.2210A>G (p.Glu737Gly) single nucleotide variant not provided [RCV001372561] Chr10:47350694 [GRCh38]
Chr10:48388668 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.2573C>A (p.Thr858Asn) single nucleotide variant not provided [RCV001341280] Chr10:47351057 [GRCh38]
Chr10:48388305 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.835A>G (p.Thr279Ala) single nucleotide variant not provided [RCV001349834] Chr10:47349319 [GRCh38]
Chr10:48390043 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.2620G>A (p.Gly874Arg) single nucleotide variant not provided [RCV001324755] Chr10:47351104 [GRCh38]
Chr10:48388258 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.3085A>G (p.Ile1029Val) single nucleotide variant not provided [RCV001315048] Chr10:47353355 [GRCh38]
Chr10:48386007 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.3631del (p.Gly1210_Val1211insTer) deletion not provided [RCV001300797] Chr10:47357340 [GRCh38]
Chr10:48382018 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.3488G>A (p.Arg1163Gln) single nucleotide variant not provided [RCV001344314] Chr10:47357201 [GRCh38]
Chr10:48382161 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.296C>T (p.Pro99Leu) single nucleotide variant not provided [RCV001363592] Chr10:47348780 [GRCh38]
Chr10:48390582 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.1031T>C (p.Val344Ala) single nucleotide variant not provided [RCV001363596] Chr10:47349515 [GRCh38]
Chr10:48389847 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.816C>T (p.Gly272=) single nucleotide variant not provided [RCV001319496] Chr10:47349300 [GRCh38]
Chr10:48390062 [GRCh37]
Chr10:10q11.22
likely benign|uncertain significance
NM_002900.3(RBP3):c.622A>G (p.Thr208Ala) single nucleotide variant Inborn genetic diseases [RCV004037559]|not provided [RCV001373206] Chr10:47349106 [GRCh38]
Chr10:48390256 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.2462C>T (p.Thr821Met) single nucleotide variant not provided [RCV001359902] Chr10:47350946 [GRCh38]
Chr10:48388416 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.200C>T (p.Pro67Leu) single nucleotide variant Inborn genetic diseases [RCV003263961]|not provided [RCV001325127] Chr10:47348684 [GRCh38]
Chr10:48390678 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.623C>T (p.Thr208Met) single nucleotide variant not provided [RCV001321248] Chr10:47349107 [GRCh38]
Chr10:48390255 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.1412C>T (p.Thr471Met) single nucleotide variant not provided [RCV001344509] Chr10:47349896 [GRCh38]
Chr10:48389466 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.289G>A (p.Glu97Lys) single nucleotide variant not provided [RCV001343307] Chr10:47348773 [GRCh38]
Chr10:48390589 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.3241A>G (p.Met1081Val) single nucleotide variant not provided [RCV001295814] Chr10:47353511 [GRCh38]
Chr10:48385851 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.966G>T (p.Leu322=) single nucleotide variant not provided [RCV001395626] Chr10:47349450 [GRCh38]
Chr10:48389912 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.2741C>T (p.Pro914Leu) single nucleotide variant not provided [RCV001350971] Chr10:47351225 [GRCh38]
Chr10:48388137 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.3445G>A (p.Gly1149Ser) single nucleotide variant not provided [RCV001316020] Chr10:47357158 [GRCh38]
Chr10:48382204 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.3370A>G (p.Thr1124Ala) single nucleotide variant not provided [RCV001370901] Chr10:47355500 [GRCh38]
Chr10:48383862 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.325T>C (p.Ser109Pro) single nucleotide variant not provided [RCV001371110] Chr10:47348809 [GRCh38]
Chr10:48390553 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.982G>A (p.Gly328Arg) single nucleotide variant not provided [RCV001359298] Chr10:47349466 [GRCh38]
Chr10:48389896 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.2763C>T (p.Ser921=) single nucleotide variant not provided [RCV001421758] Chr10:47351247 [GRCh38]
Chr10:48388115 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.2158G>T (p.Val720Phe) single nucleotide variant Inborn genetic diseases [RCV002543045]|not provided [RCV001296193] Chr10:47350642 [GRCh38]
Chr10:48388720 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.823G>C (p.Asp275His) single nucleotide variant not provided [RCV001305710] Chr10:47349307 [GRCh38]
Chr10:48390055 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.2282G>C (p.Gly761Ala) single nucleotide variant not provided [RCV001315724] Chr10:47350766 [GRCh38]
Chr10:48388596 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.3114T>G (p.Leu1038=) single nucleotide variant not provided [RCV001412383] Chr10:47353384 [GRCh38]
Chr10:48385978 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.1206C>T (p.Asp402=) single nucleotide variant RBP3-related disorder [RCV003953708]|not provided [RCV001395547] Chr10:47349690 [GRCh38]
Chr10:48389672 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.2491G>A (p.Gly831Ser) single nucleotide variant Retinal dystrophy [RCV004815382]|not provided [RCV001326904] Chr10:47350975 [GRCh38]
Chr10:48388387 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.101T>G (p.Val34Gly) single nucleotide variant not provided [RCV001298039] Chr10:47348585 [GRCh38]
Chr10:48390777 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.1035C>T (p.Asp345=) single nucleotide variant not provided [RCV001394647] Chr10:47349519 [GRCh38]
Chr10:48389843 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.492C>A (p.Ala164=) single nucleotide variant not provided [RCV001394663] Chr10:47348976 [GRCh38]
Chr10:48390386 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.189C>G (p.Ser63Arg) single nucleotide variant not provided [RCV001298063] Chr10:47348673 [GRCh38]
Chr10:48390689 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.224C>T (p.Thr75Ile) single nucleotide variant not provided [RCV001367422] Chr10:47348708 [GRCh38]
Chr10:48390654 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.1414G>A (p.Glu472Lys) single nucleotide variant not provided [RCV001316277] Chr10:47349898 [GRCh38]
Chr10:48389464 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.3272C>G (p.Ser1091Cys) single nucleotide variant not provided [RCV001369177] Chr10:47355402 [GRCh38]
Chr10:48383960 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.1803T>C (p.Asn601=) single nucleotide variant not provided [RCV001494670] Chr10:47350287 [GRCh38]
Chr10:48389075 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.1386C>T (p.Arg462=) single nucleotide variant not provided [RCV001421341] Chr10:47349870 [GRCh38]
Chr10:48389492 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.2919C>A (p.Ser973=) single nucleotide variant not provided [RCV001395801] Chr10:47351403 [GRCh38]
Chr10:48387959 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.3661G>A (p.Glu1221Lys) single nucleotide variant Retinal dystrophy [RCV004815480]|not provided [RCV001369808] Chr10:47357374 [GRCh38]
Chr10:48381988 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.1300G>C (p.Val434Leu) single nucleotide variant not provided [RCV001352137] Chr10:47349784 [GRCh38]
Chr10:48389578 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.2219C>T (p.Pro740Leu) single nucleotide variant not provided [RCV001357119] Chr10:47350703 [GRCh38]
Chr10:48388659 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.2909G>A (p.Ser970Asn) single nucleotide variant not provided [RCV001350573] Chr10:47351393 [GRCh38]
Chr10:48387969 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.3181A>G (p.Arg1061Gly) single nucleotide variant not provided [RCV001339570] Chr10:47353451 [GRCh38]
Chr10:48385911 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.1333G>A (p.Asp445Asn) single nucleotide variant not provided [RCV001294492] Chr10:47349817 [GRCh38]
Chr10:48389545 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.3525C>T (p.Cys1175=) single nucleotide variant RBP3-related disorder [RCV003938879]|not provided [RCV001490367] Chr10:47357238 [GRCh38]
Chr10:48382124 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.2829G>A (p.Thr943=) single nucleotide variant not provided [RCV001470011] Chr10:47351313 [GRCh38]
Chr10:48388049 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.1842T>C (p.Asp614=) single nucleotide variant not provided [RCV001498610] Chr10:47350326 [GRCh38]
Chr10:48389036 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.351G>A (p.Leu117=) single nucleotide variant RBP3-related disorder [RCV003956120]|not provided [RCV001506400] Chr10:47348835 [GRCh38]
Chr10:48390527 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.3669C>T (p.Leu1223=) single nucleotide variant not provided [RCV001492625] Chr10:47357382 [GRCh38]
Chr10:48381980 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.54C>A (p.Gly18=) single nucleotide variant not provided [RCV001439205] Chr10:47348538 [GRCh38]
Chr10:48390824 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.2571C>T (p.His857=) single nucleotide variant not provided [RCV001475529] Chr10:47351055 [GRCh38]
Chr10:48388307 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.2124G>A (p.Leu708=) single nucleotide variant not provided [RCV001400438] Chr10:47350608 [GRCh38]
Chr10:48388754 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.3108C>T (p.Asn1036=) single nucleotide variant not provided [RCV001499523] Chr10:47353378 [GRCh38]
Chr10:48385984 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.288C>T (p.Pro96=) single nucleotide variant not provided [RCV001403317] Chr10:47348772 [GRCh38]
Chr10:48390590 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.1413G>A (p.Thr471=) single nucleotide variant not provided [RCV001475743] Chr10:47349897 [GRCh38]
Chr10:48389465 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.753G>A (p.Arg251=) single nucleotide variant not provided [RCV001493079] Chr10:47349237 [GRCh38]
Chr10:48390125 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.1479G>A (p.Leu493=) single nucleotide variant not provided [RCV001429376] Chr10:47349963 [GRCh38]
Chr10:48389399 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.2946C>T (p.Ala982=) single nucleotide variant not provided [RCV001464170] Chr10:47351430 [GRCh38]
Chr10:48387932 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.3099C>T (p.Phe1033=) single nucleotide variant not provided [RCV001460231] Chr10:47353369 [GRCh38]
Chr10:48385993 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.2805C>G (p.Ala935=) single nucleotide variant not provided [RCV001492089] Chr10:47351289 [GRCh38]
Chr10:48388073 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.3222G>A (p.Thr1074=) single nucleotide variant not provided [RCV001454075] Chr10:47353492 [GRCh38]
Chr10:48385870 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.3192G>A (p.Val1064=) single nucleotide variant not provided [RCV001481851] Chr10:47353462 [GRCh38]
Chr10:48385900 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.1968C>T (p.Val656=) single nucleotide variant not provided [RCV001467826] Chr10:47350452 [GRCh38]
Chr10:48388910 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.3320del (p.Leu1107fs) deletion not provided [RCV001384330] Chr10:47355450 [GRCh38]
Chr10:48383912 [GRCh37]
Chr10:10q11.22
pathogenic
NM_002900.3(RBP3):c.2922G>A (p.Arg974=) single nucleotide variant not provided [RCV001443275] Chr10:47351406 [GRCh38]
Chr10:48387956 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.1635C>T (p.Thr545=) single nucleotide variant not provided [RCV001443546] Chr10:47350119 [GRCh38]
Chr10:48389243 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.2940C>T (p.Ala980=) single nucleotide variant not provided [RCV001412000] Chr10:47351424 [GRCh38]
Chr10:48387938 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.3531A>C (p.Pro1177=) single nucleotide variant not provided [RCV001432519] Chr10:47357244 [GRCh38]
Chr10:48382118 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.372G>A (p.Glu124=) single nucleotide variant not provided [RCV001399172] Chr10:47348856 [GRCh38]
Chr10:48390506 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.1065C>T (p.Ala355=) single nucleotide variant not provided [RCV001400849] Chr10:47349549 [GRCh38]
Chr10:48389813 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.3171C>G (p.Thr1057=) single nucleotide variant not provided [RCV001409806] Chr10:47353441 [GRCh38]
Chr10:48385921 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.3651C>A (p.Val1217=) single nucleotide variant not provided [RCV001418613] Chr10:47357364 [GRCh38]
Chr10:48381998 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.417G>A (p.Pro139=) single nucleotide variant not provided [RCV001409724] Chr10:47348901 [GRCh38]
Chr10:48390461 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.1347C>T (p.Asp449=) single nucleotide variant not provided [RCV001425476] Chr10:47349831 [GRCh38]
Chr10:48389531 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.2434_2437del (p.Val812fs) deletion not provided [RCV001381322] Chr10:47350915..47350918 [GRCh38]
Chr10:48388441..48388444 [GRCh37]
Chr10:10q11.22
pathogenic
NM_002900.3(RBP3):c.2446G>T (p.Ala816Ser) single nucleotide variant Retinal dystrophy [RCV003888155]|not provided [RCV001447222] Chr10:47350930 [GRCh38]
Chr10:48388432 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.79C>T (p.Leu27=) single nucleotide variant not provided [RCV001401374] Chr10:47348563 [GRCh38]
Chr10:48390799 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.1674G>T (p.Ser558=) single nucleotide variant not provided [RCV001410618] Chr10:47350158 [GRCh38]
Chr10:48389204 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.1279del (p.Asp427fs) deletion not provided [RCV001388347] Chr10:47349762 [GRCh38]
Chr10:48389599 [GRCh37]
Chr10:10q11.22
pathogenic
NM_002900.3(RBP3):c.1888C>T (p.Leu630=) single nucleotide variant RBP3-related disorder [RCV003953731]|not provided [RCV001402546] Chr10:47350372 [GRCh38]
Chr10:48388990 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.964C>T (p.Leu322=) single nucleotide variant not provided [RCV001436550] Chr10:47349448 [GRCh38]
Chr10:48389914 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.1197C>T (p.Pro399=) single nucleotide variant not provided [RCV001425677] Chr10:47349681 [GRCh38]
Chr10:48389681 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.2463G>A (p.Thr821=) single nucleotide variant not provided [RCV001401358] Chr10:47350947 [GRCh38]
Chr10:48388415 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.1290C>T (p.Phe430=) single nucleotide variant not provided [RCV001435173] Chr10:47349774 [GRCh38]
Chr10:48389588 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.2325G>A (p.Thr775=) single nucleotide variant not provided [RCV001431734] Chr10:47350809 [GRCh38]
Chr10:48388553 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.1866C>A (p.Ala622=) single nucleotide variant RBP3-related disorder [RCV003938789]|not provided [RCV001445334] Chr10:47350350 [GRCh38]
Chr10:48389012 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.2074G>T (p.Glu692Ter) single nucleotide variant not provided [RCV001380956] Chr10:47350558 [GRCh38]
Chr10:48388804 [GRCh37]
Chr10:10q11.22
pathogenic
NM_002900.3(RBP3):c.369T>C (p.His123=) single nucleotide variant not provided [RCV001485910] Chr10:47348853 [GRCh38]
Chr10:48390509 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.2584C>T (p.Leu862=) single nucleotide variant not provided [RCV001490293] Chr10:47351068 [GRCh38]
Chr10:48388294 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.790C>T (p.Leu264=) single nucleotide variant not provided [RCV001454659] Chr10:47349274 [GRCh38]
Chr10:48390088 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.3237C>T (p.Ile1079=) single nucleotide variant not provided [RCV001454701] Chr10:47353507 [GRCh38]
Chr10:48385855 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.585C>T (p.His195=) single nucleotide variant not provided [RCV001455622] Chr10:47349069 [GRCh38]
Chr10:48390293 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.462C>T (p.His154=) single nucleotide variant not provided [RCV001452287] Chr10:47348946 [GRCh38]
Chr10:48390416 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.3054+9C>T single nucleotide variant not provided [RCV001470370] Chr10:47351547 [GRCh38]
Chr10:48387815 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.3483G>C (p.Leu1161=) single nucleotide variant not provided [RCV001497204] Chr10:47357196 [GRCh38]
Chr10:48382166 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.42T>C (p.Cys14=) single nucleotide variant not provided [RCV001470738] Chr10:47348526 [GRCh38]
Chr10:48390836 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.2865C>T (p.Ala955=) single nucleotide variant not provided [RCV001488173] Chr10:47351349 [GRCh38]
Chr10:48388013 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.1026G>A (p.Thr342=) single nucleotide variant not provided [RCV001456187] Chr10:47349510 [GRCh38]
Chr10:48389852 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.2824C>T (p.Gln942Ter) single nucleotide variant not provided [RCV001381104] Chr10:47351308 [GRCh38]
Chr10:48388054 [GRCh37]
Chr10:10q11.22
pathogenic
NM_002900.3(RBP3):c.2448C>T (p.Ala816=) single nucleotide variant not provided [RCV001484408] Chr10:47350932 [GRCh38]
Chr10:48388430 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.3411G>A (p.Lys1137=) single nucleotide variant not provided [RCV001485871] Chr10:47357124 [GRCh38]
Chr10:48382238 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.861G>T (p.Gly287=) single nucleotide variant not provided [RCV001470004] Chr10:47349345 [GRCh38]
Chr10:48390017 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.1482C>T (p.Ser494=) single nucleotide variant not provided [RCV001470484] Chr10:47349966 [GRCh38]
Chr10:48389396 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.33G>A (p.Val11=) single nucleotide variant not provided [RCV001504769] Chr10:47348517 [GRCh38]
Chr10:48390845 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.3375C>T (p.His1125=) single nucleotide variant not provided [RCV001491148] Chr10:47355505 [GRCh38]
Chr10:48383857 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.816C>G (p.Gly272=) single nucleotide variant not provided [RCV001473912] Chr10:47349300 [GRCh38]
Chr10:48390062 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.1215C>T (p.Ala405=) single nucleotide variant not provided [RCV001462860] Chr10:47349699 [GRCh38]
Chr10:48389663 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.783A>T (p.Gly261=) single nucleotide variant not provided [RCV001467429] Chr10:47349267 [GRCh38]
Chr10:48390095 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.3477G>A (p.Lys1159=) single nucleotide variant not provided [RCV001491598] Chr10:47357190 [GRCh38]
Chr10:48382172 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.1710G>T (p.Ala570=) single nucleotide variant not provided [RCV001442891] Chr10:47350194 [GRCh38]
Chr10:48389168 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.2088C>T (p.Asp696=) single nucleotide variant not provided [RCV001519648] Chr10:47350572 [GRCh38]
Chr10:48388790 [GRCh37]
Chr10:10q11.22
benign
NC_000010.10:g.(?_48370533)_(48438710_?)del deletion not provided [RCV001385467] Chr10:48370533..48438710 [GRCh37]
Chr10:10q11.22
pathogenic
NM_002900.3(RBP3):c.990C>T (p.Val330=) single nucleotide variant not provided [RCV001429784] Chr10:47349474 [GRCh38]
Chr10:48389888 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.1170C>T (p.Ile390=) single nucleotide variant Retinal dystrophy [RCV003888132]|not provided [RCV001425836] Chr10:47349654 [GRCh38]
Chr10:48389708 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.2103G>A (p.Val701=) single nucleotide variant not provided [RCV001485186] Chr10:47350587 [GRCh38]
Chr10:48388775 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.1050G>A (p.Leu350=) single nucleotide variant not provided [RCV001400432] Chr10:47349534 [GRCh38]
Chr10:48389828 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.75A>C (p.Pro25=) single nucleotide variant not provided [RCV001407153] Chr10:47348559 [GRCh38]
Chr10:48390803 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.349C>T (p.Leu117=) single nucleotide variant not provided [RCV001393716] Chr10:47348833 [GRCh38]
Chr10:48390529 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.1617G>A (p.Leu539=) single nucleotide variant not provided [RCV001400874] Chr10:47350101 [GRCh38]
Chr10:48389261 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.3081G>A (p.Glu1027=) single nucleotide variant not provided [RCV001437459] Chr10:47353351 [GRCh38]
Chr10:48386011 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.531C>G (p.Val177=) single nucleotide variant not provided [RCV001398717] Chr10:47349015 [GRCh38]
Chr10:48390347 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.2502C>T (p.Tyr834=) single nucleotide variant not provided [RCV001426531] Chr10:47350986 [GRCh38]
Chr10:48388376 [GRCh37]
Chr10:10q11.22
likely benign
GRCh37/hg19 10q11.22-11.23(chr10:46576515-51680164) copy number loss Telangiectasia, hereditary hemorrhagic, type 5 [RCV002280655] Chr10:46576515..51680164 [GRCh37]
Chr10:10q11.22-11.23
pathogenic
NM_002900.3(RBP3):c.3253A>G (p.Ile1085Val) single nucleotide variant Retinal dystrophy [RCV004816178] Chr10:47355383 [GRCh38]
Chr10:48383979 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.1113G>C (p.Lys371Asn) single nucleotide variant Retinal dystrophy [RCV004818668] Chr10:47349597 [GRCh38]
Chr10:48389765 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.1343C>T (p.Ala448Val) single nucleotide variant Retinal dystrophy [RCV004818676] Chr10:47349827 [GRCh38]
Chr10:48389535 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.1807G>A (p.Gly603Ser) single nucleotide variant Retinal dystrophy [RCV003888357]|not provided [RCV001929728] Chr10:47350291 [GRCh38]
Chr10:48389071 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.1335T>C (p.Asp445=) single nucleotide variant not provided [RCV002045799] Chr10:47349819 [GRCh38]
Chr10:48389543 [GRCh37]
Chr10:10q11.22
likely benign|uncertain significance
NM_002900.3(RBP3):c.1769C>T (p.Ala590Val) single nucleotide variant not provided [RCV001971744] Chr10:47350253 [GRCh38]
Chr10:48389109 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.1307C>T (p.Pro436Leu) single nucleotide variant not provided [RCV001896950] Chr10:47349791 [GRCh38]
Chr10:48389571 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.1405C>T (p.Gln469Ter) single nucleotide variant not provided [RCV001913767] Chr10:47349889 [GRCh38]
Chr10:48389473 [GRCh37]
Chr10:10q11.22
pathogenic
NM_002900.3(RBP3):c.2980G>A (p.Gly994Arg) single nucleotide variant Inborn genetic diseases [RCV002560532]|Retinal dystrophy [RCV003888922]|not provided [RCV001929590] Chr10:47351464 [GRCh38]
Chr10:48387898 [GRCh37]
Chr10:10q11.22
likely benign|uncertain significance
NM_002900.3(RBP3):c.901G>T (p.Val301Leu) single nucleotide variant not provided [RCV001873073] Chr10:47349385 [GRCh38]
Chr10:48389977 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.2788A>G (p.Ile930Val) single nucleotide variant Inborn genetic diseases [RCV004955772]|not provided [RCV001896768] Chr10:47351272 [GRCh38]
Chr10:48388090 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.2788A>T (p.Ile930Leu) single nucleotide variant not provided [RCV002045149] Chr10:47351272 [GRCh38]
Chr10:48388090 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.2485G>T (p.Val829Phe) single nucleotide variant not provided [RCV001949069] Chr10:47350969 [GRCh38]
Chr10:48388393 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.2413C>T (p.Pro805Ser) single nucleotide variant not provided [RCV002045175] Chr10:47350897 [GRCh38]
Chr10:48388465 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.920C>T (p.Thr307Ile) single nucleotide variant not provided [RCV002006874] Chr10:47349404 [GRCh38]
Chr10:48389958 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.697A>G (p.Ser233Gly) single nucleotide variant not provided [RCV002008812] Chr10:47349181 [GRCh38]
Chr10:48390181 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.3008T>A (p.Ile1003Asn) single nucleotide variant not provided [RCV001929319] Chr10:47351492 [GRCh38]
Chr10:48387870 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.1025C>T (p.Thr342Met) single nucleotide variant not provided [RCV001864227] Chr10:47349509 [GRCh38]
Chr10:48389853 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.80T>G (p.Leu27Arg) single nucleotide variant not provided [RCV001950608] Chr10:47348564 [GRCh38]
Chr10:48390798 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.627G>T (p.Glu209Asp) single nucleotide variant not provided [RCV001965429] Chr10:47349111 [GRCh38]
Chr10:48390251 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.1582G>A (p.Gly528Ser) single nucleotide variant not provided [RCV001929524] Chr10:47350066 [GRCh38]
Chr10:48389296 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.1255G>A (p.Glu419Lys) single nucleotide variant Inborn genetic diseases [RCV002554348]|not provided [RCV001896673] Chr10:47349739 [GRCh38]
Chr10:48389623 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.2101G>A (p.Val701Met) single nucleotide variant not provided [RCV001895693] Chr10:47350585 [GRCh38]
Chr10:48388777 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.2689A>G (p.Met897Val) single nucleotide variant not provided [RCV002045255] Chr10:47351173 [GRCh38]
Chr10:48388189 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.955A>G (p.Ile319Val) single nucleotide variant not provided [RCV001965896] Chr10:47349439 [GRCh38]
Chr10:48389923 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.1570A>G (p.Met524Val) single nucleotide variant not provided [RCV002021701] Chr10:47350054 [GRCh38]
Chr10:48389308 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.2690T>C (p.Met897Thr) single nucleotide variant Inborn genetic diseases [RCV002556413]|not provided [RCV001947678] Chr10:47351174 [GRCh38]
Chr10:48388188 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.3637C>A (p.Pro1213Thr) single nucleotide variant not provided [RCV002041846] Chr10:47357350 [GRCh38]
Chr10:48382012 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.1694T>C (p.Val565Ala) single nucleotide variant not provided [RCV001985058] Chr10:47350178 [GRCh38]
Chr10:48389184 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.2092C>T (p.Arg698Cys) single nucleotide variant not provided [RCV001870779] Chr10:47350576 [GRCh38]
Chr10:48388786 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.206C>T (p.Thr69Met) single nucleotide variant not provided [RCV002023077] Chr10:47348690 [GRCh38]
Chr10:48390672 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.2746A>G (p.Ile916Val) single nucleotide variant not provided [RCV001946167] Chr10:47351230 [GRCh38]
Chr10:48388132 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.1187CTT[1] (p.Ser397del) microsatellite not provided [RCV001983873] Chr10:47349671..47349673 [GRCh38]
Chr10:48389686..48389688 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.1294G>A (p.Val432Met) single nucleotide variant not provided [RCV002005004] Chr10:47349778 [GRCh38]
Chr10:48389584 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.1036C>A (p.Arg346Ser) single nucleotide variant not provided [RCV002041638] Chr10:47349520 [GRCh38]
Chr10:48389842 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.1777G>T (p.Val593Leu) single nucleotide variant not provided [RCV001890692] Chr10:47350261 [GRCh38]
Chr10:48389101 [GRCh37]
Chr10:10q11.22
uncertain significance
GRCh37/hg19 10q11.22(chr10:48301643-48769625)x1 copy number loss not provided [RCV001833050] Chr10:48301643..48769625 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.2113C>T (p.Pro705Ser) single nucleotide variant not provided [RCV002042612] Chr10:47350597 [GRCh38]
Chr10:48388765 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.3676G>A (p.Ala1226Thr) single nucleotide variant not provided [RCV001968647] Chr10:47357389 [GRCh38]
Chr10:48381973 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.3453G>A (p.Ala1151=) single nucleotide variant not provided [RCV001912548] Chr10:47357166 [GRCh38]
Chr10:48382196 [GRCh37]
Chr10:10q11.22
likely benign|uncertain significance
NM_002900.3(RBP3):c.490G>C (p.Ala164Pro) single nucleotide variant not provided [RCV002042238] Chr10:47348974 [GRCh38]
Chr10:48390388 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.3661G>T (p.Glu1221Ter) single nucleotide variant not provided [RCV002042245] Chr10:47357374 [GRCh38]
Chr10:48381988 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.859G>C (p.Gly287Arg) single nucleotide variant Inborn genetic diseases [RCV002579621]|not provided [RCV002005752] Chr10:47349343 [GRCh38]
Chr10:48390019 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.2977T>C (p.Ser993Pro) single nucleotide variant not provided [RCV001893210] Chr10:47351461 [GRCh38]
Chr10:48387901 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.607C>A (p.Pro203Thr) single nucleotide variant not provided [RCV001986091] Chr10:47349091 [GRCh38]
Chr10:48390271 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.631T>G (p.Trp211Gly) single nucleotide variant not provided [RCV002022376] Chr10:47349115 [GRCh38]
Chr10:48390247 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.3237C>A (p.Ile1079=) single nucleotide variant not provided [RCV001966553] Chr10:47353507 [GRCh38]
Chr10:48385855 [GRCh37]
Chr10:10q11.22
likely benign|uncertain significance
NM_002900.3(RBP3):c.529del (p.Val177fs) deletion not provided [RCV001945535] Chr10:47349012 [GRCh38]
Chr10:48390349 [GRCh37]
Chr10:10q11.22
pathogenic
NM_002900.3(RBP3):c.930G>T (p.Glu310Asp) single nucleotide variant not provided [RCV001895423] Chr10:47349414 [GRCh38]
Chr10:48389948 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.3472A>T (p.Met1158Leu) single nucleotide variant not provided [RCV001912213] Chr10:47357185 [GRCh38]
Chr10:48382177 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.2597C>A (p.Thr866Lys) single nucleotide variant not provided [RCV002002897] Chr10:47351081 [GRCh38]
Chr10:48388281 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.748C>T (p.Arg250Cys) single nucleotide variant not provided [RCV002042554] Chr10:47349232 [GRCh38]
Chr10:48390130 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.2093G>A (p.Arg698His) single nucleotide variant Inborn genetic diseases [RCV004656796]|not provided [RCV001969248] Chr10:47350577 [GRCh38]
Chr10:48388785 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.3491C>T (p.Ala1164Val) single nucleotide variant not provided [RCV001872803] Chr10:47357204 [GRCh38]
Chr10:48382158 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.660_661delinsTC (p.Arg220_Tyr221delinsSerHis) indel not provided [RCV001909536] Chr10:47349144..47349145 [GRCh38]
Chr10:48390217..48390218 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.1519T>C (p.Phe507Leu) single nucleotide variant not provided [RCV002039657] Chr10:47350003 [GRCh38]
Chr10:48389359 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.2033A>G (p.Asp678Gly) single nucleotide variant not provided [RCV002042517] Chr10:47350517 [GRCh38]
Chr10:48388845 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.1424T>C (p.Ile475Thr) single nucleotide variant not provided [RCV002003559] Chr10:47349908 [GRCh38]
Chr10:48389454 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.2817G>A (p.Thr939=) single nucleotide variant not provided [RCV002041909] Chr10:47351301 [GRCh38]
Chr10:48388061 [GRCh37]
Chr10:10q11.22
likely benign|uncertain significance
NM_002900.3(RBP3):c.3255C>G (p.Ile1085Met) single nucleotide variant not provided [RCV001893376] Chr10:47355385 [GRCh38]
Chr10:48383977 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.919A>G (p.Thr307Ala) single nucleotide variant not provided [RCV002042764] Chr10:47349403 [GRCh38]
Chr10:48389959 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.1549A>T (p.Thr517Ser) single nucleotide variant not provided [RCV001894767] Chr10:47350033 [GRCh38]
Chr10:48389329 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.2780C>T (p.Ala927Val) single nucleotide variant not provided [RCV002001909] Chr10:47351264 [GRCh38]
Chr10:48388098 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.1955C>T (p.Ala652Val) single nucleotide variant not provided [RCV001983996] Chr10:47350439 [GRCh38]
Chr10:48388923 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.3667C>G (p.Leu1223Val) single nucleotide variant not provided [RCV002002776] Chr10:47357380 [GRCh38]
Chr10:48381982 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.2270T>C (p.Val757Ala) single nucleotide variant not provided [RCV001969538] Chr10:47350754 [GRCh38]
Chr10:48388608 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.2974C>A (p.Leu992Ile) single nucleotide variant not provided [RCV001927888] Chr10:47351458 [GRCh38]
Chr10:48387904 [GRCh37]
Chr10:10q11.22
uncertain significance
NC_000010.10:g.(?_48381905)_(48416693_?)dup duplication not provided [RCV002002944] Chr10:48381905..48416693 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.118T>G (p.Cys40Gly) single nucleotide variant not provided [RCV002001153] Chr10:47348602 [GRCh38]
Chr10:48390760 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.1619T>C (p.Leu540Pro) single nucleotide variant not provided [RCV001887701] Chr10:47350103 [GRCh38]
Chr10:48389259 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.1838C>G (p.Pro613Arg) single nucleotide variant not provided [RCV001883829] Chr10:47350322 [GRCh38]
Chr10:48389040 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.901del (p.Val301fs) deletion not provided [RCV001888544] Chr10:47349382 [GRCh38]
Chr10:48389977 [GRCh37]
Chr10:10q11.22
pathogenic
NM_002900.3(RBP3):c.73C>A (p.Pro25Thr) single nucleotide variant Inborn genetic diseases [RCV004671472]|not provided [RCV001944543] Chr10:47348557 [GRCh38]
Chr10:48390805 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.2780C>G (p.Ala927Gly) single nucleotide variant not provided [RCV002013224] Chr10:47351264 [GRCh38]
Chr10:48388098 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.2790A>G (p.Ile930Met) single nucleotide variant not provided [RCV002039071] Chr10:47351274 [GRCh38]
Chr10:48388088 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.2789T>A (p.Ile930Lys) single nucleotide variant not provided [RCV001944249] Chr10:47351273 [GRCh38]
Chr10:48388089 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.3389G>C (p.Gly1130Ala) single nucleotide variant not provided [RCV001976977] Chr10:47357102 [GRCh38]
Chr10:48382260 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.3631_3633del (p.Val1211del) deletion not provided [RCV001905612] Chr10:47357343..47357345 [GRCh38]
Chr10:48382016..48382018 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.257G>A (p.Arg86His) single nucleotide variant not provided [RCV002036620] Chr10:47348741 [GRCh38]
Chr10:48390621 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.3265A>G (p.Thr1089Ala) single nucleotide variant not provided [RCV002013514] Chr10:47355395 [GRCh38]
Chr10:48383967 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.170A>T (p.Lys57Met) single nucleotide variant not provided [RCV002015055] Chr10:47348654 [GRCh38]
Chr10:48390708 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.965T>G (p.Leu322Arg) single nucleotide variant not provided [RCV001939327] Chr10:47349449 [GRCh38]
Chr10:48389913 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.1828G>A (p.Gly610Arg) single nucleotide variant not provided [RCV001886949] Chr10:47350312 [GRCh38]
Chr10:48389050 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.2274G>C (p.Lys758Asn) single nucleotide variant not provided [RCV002028885] Chr10:47350758 [GRCh38]
Chr10:48388604 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.956T>C (p.Ile319Thr) single nucleotide variant not provided [RCV001958513] Chr10:47349440 [GRCh38]
Chr10:48389922 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.3059C>T (p.Pro1020Leu) single nucleotide variant not provided [RCV001963553] Chr10:47353329 [GRCh38]
Chr10:48386033 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.1247C>T (p.Pro416Leu) single nucleotide variant not provided [RCV002039233] Chr10:47349731 [GRCh38]
Chr10:48389631 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.2252T>C (p.Met751Thr) single nucleotide variant not provided [RCV001932036] Chr10:47350736 [GRCh38]
Chr10:48388626 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.1747G>T (p.Asp583Tyr) single nucleotide variant not provided [RCV001977765] Chr10:47350231 [GRCh38]
Chr10:48389131 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.2816C>T (p.Thr939Met) single nucleotide variant not provided [RCV001981134] Chr10:47351300 [GRCh38]
Chr10:48388062 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.1042C>G (p.Pro348Ala) single nucleotide variant not provided [RCV001962252] Chr10:47349526 [GRCh38]
Chr10:48389836 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.1758A>C (p.Glu586Asp) single nucleotide variant not provided [RCV001907077] Chr10:47350242 [GRCh38]
Chr10:48389120 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.1039G>T (p.Val347Leu) single nucleotide variant not provided [RCV001942621] Chr10:47349523 [GRCh38]
Chr10:48389839 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.462C>A (p.His154Gln) single nucleotide variant Inborn genetic diseases [RCV003299070]|not provided [RCV001937544] Chr10:47348946 [GRCh38]
Chr10:48390416 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.2189T>C (p.Ile730Thr) single nucleotide variant not provided [RCV002046771] Chr10:47350673 [GRCh38]
Chr10:48388689 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.2047G>A (p.Ala683Thr) single nucleotide variant not provided [RCV001921154] Chr10:47350531 [GRCh38]
Chr10:48388831 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.1639A>G (p.Thr547Ala) single nucleotide variant Inborn genetic diseases [RCV004956197]|not provided [RCV002032041] Chr10:47350123 [GRCh38]
Chr10:48389239 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.2020C>T (p.Arg674Cys) single nucleotide variant Inborn genetic diseases [RCV002579521]|Retinal dystrophy [RCV003888967]|not provided [RCV001976696] Chr10:47350504 [GRCh38]
Chr10:48388858 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.3109G>A (p.Val1037Met) single nucleotide variant not provided [RCV002051467] Chr10:47353379 [GRCh38]
Chr10:48385983 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.1549A>G (p.Thr517Ala) single nucleotide variant not provided [RCV001919073] Chr10:47350033 [GRCh38]
Chr10:48389329 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.3341G>A (p.Arg1114Gln) single nucleotide variant Retinal dystrophy [RCV004815666]|Retinitis pigmentosa 66 [RCV002468646]|not provided [RCV001880369] Chr10:47355471 [GRCh38]
Chr10:48383891 [GRCh37]
Chr10:10q11.22
likely pathogenic|uncertain significance
NM_002900.3(RBP3):c.3590C>T (p.Ser1197Phe) single nucleotide variant not provided [RCV001954362] Chr10:47357303 [GRCh38]
Chr10:48382059 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.728C>T (p.Ala243Val) single nucleotide variant not provided [RCV001866303] Chr10:47349212 [GRCh38]
Chr10:48390150 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.2140C>T (p.Pro714Ser) single nucleotide variant not provided [RCV001978690] Chr10:47350624 [GRCh38]
Chr10:48388738 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.41G>A (p.Cys14Tyr) single nucleotide variant Inborn genetic diseases [RCV002545390]|not provided [RCV002047104] Chr10:47348525 [GRCh38]
Chr10:48390837 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.1640C>T (p.Thr547Met) single nucleotide variant not provided [RCV001931430] Chr10:47350124 [GRCh38]
Chr10:48389238 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.2317G>A (p.Val773Met) single nucleotide variant not provided [RCV001918160] Chr10:47350801 [GRCh38]
Chr10:48388561 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.3631G>T (p.Val1211Leu) single nucleotide variant not provided [RCV001975608] Chr10:47357344 [GRCh38]
Chr10:48382018 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.3611G>A (p.Ser1204Asn) single nucleotide variant not provided [RCV001866383] Chr10:47357324 [GRCh38]
Chr10:48382038 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.3582G>A (p.Thr1194=) single nucleotide variant not provided [RCV002009558] Chr10:47357295 [GRCh38]
Chr10:48382067 [GRCh37]
Chr10:10q11.22
likely benign|uncertain significance
NM_002900.3(RBP3):c.2140C>G (p.Pro714Ala) single nucleotide variant not provided [RCV001897067] Chr10:47350624 [GRCh38]
Chr10:48388738 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.2884G>A (p.Ala962Thr) single nucleotide variant Retinal dystrophy [RCV003888354]|not provided [RCV001934593] Chr10:47351368 [GRCh38]
Chr10:48387994 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.179A>G (p.Glu60Gly) single nucleotide variant not provided [RCV001904054] Chr10:47348663 [GRCh38]
Chr10:48390699 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.508C>T (p.Arg170Trp) single nucleotide variant Retinal dystrophy [RCV003888909]|not provided [RCV001930538] Chr10:47348992 [GRCh38]
Chr10:48390370 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.1082C>T (p.Thr361Met) single nucleotide variant not provided [RCV001919841] Chr10:47349566 [GRCh38]
Chr10:48389796 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.2828C>T (p.Thr943Met) single nucleotide variant Inborn genetic diseases [RCV004953189]|not provided [RCV001865089] Chr10:47351312 [GRCh38]
Chr10:48388050 [GRCh37]
Chr10:10q11.22
uncertain significance
NC_000010.10:g.(?_48382532)_(48388342_?)del deletion not provided [RCV001956197] Chr10:48382532..48388342 [GRCh37]
Chr10:10q11.22
pathogenic
NM_002900.3(RBP3):c.1427T>A (p.Met476Lys) single nucleotide variant not provided [RCV001904096] Chr10:47349911 [GRCh38]
Chr10:48389451 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.265A>G (p.Ile89Val) single nucleotide variant not provided [RCV002013726] Chr10:47348749 [GRCh38]
Chr10:48390613 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.2576T>G (p.Met859Arg) single nucleotide variant not provided [RCV001901449] Chr10:47351060 [GRCh38]
Chr10:48388302 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.256C>T (p.Arg86Cys) single nucleotide variant not provided [RCV002009967] Chr10:47348740 [GRCh38]
Chr10:48390622 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.3496G>T (p.Val1166Phe) single nucleotide variant not provided [RCV002026693] Chr10:47357209 [GRCh38]
Chr10:48382153 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.2224_2225del (p.Gln742fs) deletion not provided [RCV001956281] Chr10:47350708..47350709 [GRCh38]
Chr10:48388653..48388654 [GRCh37]
Chr10:10q11.22
pathogenic
NM_002900.3(RBP3):c.1354G>A (p.Val452Ile) single nucleotide variant not provided [RCV001870544] Chr10:47349838 [GRCh38]
Chr10:48389524 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.341T>C (p.Leu114Pro) single nucleotide variant not provided [RCV001996444] Chr10:47348825 [GRCh38]
Chr10:48390537 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.508C>A (p.Arg170=) single nucleotide variant not provided [RCV002034240] Chr10:47348992 [GRCh38]
Chr10:48390370 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.722A>T (p.Asp241Val) single nucleotide variant Retinitis pigmentosa [RCV002497897]|not provided [RCV001997630] Chr10:47349206 [GRCh38]
Chr10:48390156 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.2833G>A (p.Gly945Arg) single nucleotide variant not provided [RCV001906924] Chr10:47351317 [GRCh38]
Chr10:48388045 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.2973G>C (p.Met991Ile) single nucleotide variant not provided [RCV002019480] Chr10:47351457 [GRCh38]
Chr10:48387905 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.2947G>A (p.Glu983Lys) single nucleotide variant not provided [RCV002020023] Chr10:47351431 [GRCh38]
Chr10:48387931 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.3487C>T (p.Arg1163Trp) single nucleotide variant not provided [RCV002031052] Chr10:47357200 [GRCh38]
Chr10:48382162 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.1934A>C (p.His645Pro) single nucleotide variant not provided [RCV001900828] Chr10:47350418 [GRCh38]
Chr10:48388944 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.2764G>A (p.Glu922Lys) single nucleotide variant not provided [RCV002019576] Chr10:47351248 [GRCh38]
Chr10:48388114 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.97A>G (p.Lys33Glu) single nucleotide variant not provided [RCV001997239] Chr10:47348581 [GRCh38]
Chr10:48390781 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.1205A>G (p.Asp402Gly) single nucleotide variant not provided [RCV001939940] Chr10:47349689 [GRCh38]
Chr10:48389673 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.1853T>C (p.Leu618Pro) single nucleotide variant not provided [RCV001882963] Chr10:47350337 [GRCh38]
Chr10:48389025 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.1265G>A (p.Arg422Gln) single nucleotide variant Retinal dystrophy [RCV003888905]|not provided [RCV001916075] Chr10:47349749 [GRCh38]
Chr10:48389613 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.952G>A (p.Ala318Thr) single nucleotide variant not provided [RCV001918667] Chr10:47349436 [GRCh38]
Chr10:48389926 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.2923G>C (p.Val975Leu) single nucleotide variant not provided [RCV001979246] Chr10:47351407 [GRCh38]
Chr10:48387955 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.341T>A (p.Leu114His) single nucleotide variant not provided [RCV002019226] Chr10:47348825 [GRCh38]
Chr10:48390537 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.1670A>T (p.Gln557Leu) single nucleotide variant not provided [RCV001904458] Chr10:47350154 [GRCh38]
Chr10:48389208 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.436A>G (p.Met146Val) single nucleotide variant not provided [RCV001885579] Chr10:47348920 [GRCh38]
Chr10:48390442 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.2416C>G (p.Arg806Gly) single nucleotide variant not provided [RCV001960763] Chr10:47350900 [GRCh38]
Chr10:48388462 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.2575_2584del (p.Met859fs) deletion not provided [RCV001933480] Chr10:47351056..47351065 [GRCh38]
Chr10:48388294..48388303 [GRCh37]
Chr10:10q11.22
pathogenic
NM_002900.3(RBP3):c.2528T>C (p.Leu843Pro) single nucleotide variant not provided [RCV001982239] Chr10:47351012 [GRCh38]
Chr10:48388350 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.1829G>C (p.Gly610Ala) single nucleotide variant Inborn genetic diseases [RCV004042392]|Retinal dystrophy [RCV004816868]|not provided [RCV001990924] Chr10:47350313 [GRCh38]
Chr10:48389049 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.711C>T (p.Gly237=) single nucleotide variant not provided [RCV001991451] Chr10:47349195 [GRCh38]
Chr10:48390167 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.511C>A (p.His171Asn) single nucleotide variant not provided [RCV002050319] Chr10:47348995 [GRCh38]
Chr10:48390367 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.1936C>A (p.Leu646Met) single nucleotide variant not provided [RCV001979620] Chr10:47350420 [GRCh38]
Chr10:48388942 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.1646C>T (p.Ala549Val) single nucleotide variant Inborn genetic diseases [RCV002642137]|not provided [RCV002017464] Chr10:47350130 [GRCh38]
Chr10:48389232 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.215G>A (p.Ser72Asn) single nucleotide variant not provided [RCV001905351] Chr10:47348699 [GRCh38]
Chr10:48390663 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.1257G>C (p.Glu419Asp) single nucleotide variant not provided [RCV001997859] Chr10:47349741 [GRCh38]
Chr10:48389621 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.760G>C (p.Val254Leu) single nucleotide variant not provided [RCV002017859] Chr10:47349244 [GRCh38]
Chr10:48390118 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.2552C>T (p.Ala851Val) single nucleotide variant Inborn genetic diseases [RCV004656703]|not provided [RCV001886309] Chr10:47351036 [GRCh38]
Chr10:48388326 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.301C>G (p.Gln101Glu) single nucleotide variant not provided [RCV002036038] Chr10:47348785 [GRCh38]
Chr10:48390577 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.730C>A (p.His244Asn) single nucleotide variant not provided [RCV002036229] Chr10:47349214 [GRCh38]
Chr10:48390148 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.2086del (p.Asp696fs) deletion not provided [RCV001906335] Chr10:47350567 [GRCh38]
Chr10:48388792 [GRCh37]
Chr10:10q11.22
pathogenic
NM_002900.3(RBP3):c.1979C>G (p.Thr660Ser) single nucleotide variant not provided [RCV001961461] Chr10:47350463 [GRCh38]
Chr10:48388899 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.2488G>A (p.Ala830Thr) single nucleotide variant Retinal dystrophy [RCV003888974]|not provided [RCV001980496] Chr10:47350972 [GRCh38]
Chr10:48388390 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.2373G>A (p.Thr791=) single nucleotide variant not provided [RCV001992533] Chr10:47350857 [GRCh38]
Chr10:48388505 [GRCh37]
Chr10:10q11.22
likely benign|uncertain significance
NM_002900.3(RBP3):c.1831G>C (p.Val611Leu) single nucleotide variant not provided [RCV001954562] Chr10:47350315 [GRCh38]
Chr10:48389047 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.1118A>G (p.Asn373Ser) single nucleotide variant not provided [RCV002031647] Chr10:47349602 [GRCh38]
Chr10:48389760 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.2195C>T (p.Ala732Val) single nucleotide variant not provided [RCV001978648] Chr10:47350679 [GRCh38]
Chr10:48388683 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.710G>A (p.Gly237Asp) single nucleotide variant not provided [RCV001931490] Chr10:47349194 [GRCh38]
Chr10:48390168 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.1095G>A (p.Glu365=) single nucleotide variant not provided [RCV001902772] Chr10:47349579 [GRCh38]
Chr10:48389783 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.3656C>A (p.Ala1219Glu) single nucleotide variant not provided [RCV001881116] Chr10:47357369 [GRCh38]
Chr10:48381993 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.2603T>C (p.Ile868Thr) single nucleotide variant not provided [RCV001904289] Chr10:47351087 [GRCh38]
Chr10:48388275 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.1138T>G (p.Ser380Ala) single nucleotide variant Retinal dystrophy [RCV003888387]|not provided [RCV001900937] Chr10:47349622 [GRCh38]
Chr10:48389740 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.733A>G (p.Ile245Val) single nucleotide variant not provided [RCV001878429] Chr10:47349217 [GRCh38]
Chr10:48390145 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.2117G>A (p.Gly706Asp) single nucleotide variant Inborn genetic diseases [RCV003382663]|not provided [RCV001901867] Chr10:47350601 [GRCh38]
Chr10:48388761 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.1808G>C (p.Gly603Ala) single nucleotide variant not provided [RCV001976877] Chr10:47350292 [GRCh38]
Chr10:48389070 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.2152C>A (p.Pro718Thr) single nucleotide variant not provided [RCV001904466] Chr10:47350636 [GRCh38]
Chr10:48388726 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.401G>A (p.Arg134Gln) single nucleotide variant not provided [RCV002031944] Chr10:47348885 [GRCh38]
Chr10:48390477 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.3625G>C (p.Val1209Leu) single nucleotide variant not provided [RCV001916269] Chr10:47357338 [GRCh38]
Chr10:48382024 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.836C>T (p.Thr279Met) single nucleotide variant not provided [RCV001904508] Chr10:47349320 [GRCh38]
Chr10:48390042 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.2759T>A (p.Met920Lys) single nucleotide variant not provided [RCV001951621] Chr10:47351243 [GRCh38]
Chr10:48388119 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.2180C>T (p.Thr727Ile) single nucleotide variant Retinal dystrophy [RCV003888367]|not provided [RCV001900506] Chr10:47350664 [GRCh38]
Chr10:48388698 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.928G>A (p.Glu310Lys) single nucleotide variant not provided [RCV001881759] Chr10:47349412 [GRCh38]
Chr10:48389950 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.939G>A (p.Leu313=) single nucleotide variant not provided [RCV002073694] Chr10:47349423 [GRCh38]
Chr10:48389939 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.885G>C (p.Thr295=) single nucleotide variant not provided [RCV002110604] Chr10:47349369 [GRCh38]
Chr10:48389993 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.3390T>A (p.Gly1130=) single nucleotide variant not provided [RCV002090741] Chr10:47357103 [GRCh38]
Chr10:48382259 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.1854G>C (p.Leu618=) single nucleotide variant not provided [RCV002086556] Chr10:47350338 [GRCh38]
Chr10:48389024 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.1755C>T (p.Pro585=) single nucleotide variant not provided [RCV002126016] Chr10:47350239 [GRCh38]
Chr10:48389123 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.2979C>T (p.Ser993=) single nucleotide variant Retinal dystrophy [RCV003889041]|not provided [RCV002091178] Chr10:47351463 [GRCh38]
Chr10:48387899 [GRCh37]
Chr10:10q11.22
likely benign|uncertain significance
NM_002900.3(RBP3):c.3246-16G>T single nucleotide variant not provided [RCV002146047] Chr10:47355360 [GRCh38]
Chr10:48384002 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.2475C>G (p.Thr825=) single nucleotide variant not provided [RCV002187322] Chr10:47350959 [GRCh38]
Chr10:48388403 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.246G>C (p.Leu82=) single nucleotide variant not provided [RCV002146372] Chr10:47348730 [GRCh38]
Chr10:48390632 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.408C>T (p.Asp136=) single nucleotide variant not provided [RCV002192071] Chr10:47348892 [GRCh38]
Chr10:48390470 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.3591T>C (p.Ser1197=) single nucleotide variant not provided [RCV002112136] Chr10:47357304 [GRCh38]
Chr10:48382058 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.3222G>T (p.Thr1074=) single nucleotide variant not provided [RCV002107257] Chr10:47353492 [GRCh38]
Chr10:48385870 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.2145A>G (p.Pro715=) single nucleotide variant not provided [RCV002207664] Chr10:47350629 [GRCh38]
Chr10:48388733 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.1173G>C (p.Gly391=) single nucleotide variant not provided [RCV002189623] Chr10:47349657 [GRCh38]
Chr10:48389705 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.3283T>C (p.Leu1095=) single nucleotide variant not provided [RCV002071390] Chr10:47355413 [GRCh38]
Chr10:48383949 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.900G>A (p.Gly300=) single nucleotide variant not provided [RCV002146328] Chr10:47349384 [GRCh38]
Chr10:48389978 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.2277C>T (p.Ala759=) single nucleotide variant not provided [RCV002209713] Chr10:47350761 [GRCh38]
Chr10:48388601 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.201G>A (p.Pro67=) single nucleotide variant not provided [RCV002173701] Chr10:47348685 [GRCh38]
Chr10:48390677 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.3651C>G (p.Val1217=) single nucleotide variant not provided [RCV002209243] Chr10:47357364 [GRCh38]
Chr10:48381998 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.1857C>T (p.Ala619=) single nucleotide variant RBP3-related disorder [RCV004731226]|Retinal dystrophy [RCV003889020]|not provided [RCV002072601] Chr10:47350341 [GRCh38]
Chr10:48389021 [GRCh37]
Chr10:10q11.22
likely benign|uncertain significance
NM_002900.3(RBP3):c.3246-11C>T single nucleotide variant not provided [RCV002147664] Chr10:47355365 [GRCh38]
Chr10:48383997 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.837G>T (p.Thr279=) single nucleotide variant not provided [RCV002205255] Chr10:47349321 [GRCh38]
Chr10:48390041 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.2772T>C (p.Leu924=) single nucleotide variant not provided [RCV002074992] Chr10:47351256 [GRCh38]
Chr10:48388106 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.1527C>G (p.Thr509=) single nucleotide variant not provided [RCV002208520] Chr10:47350011 [GRCh38]
Chr10:48389351 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.1993C>A (p.Arg665=) single nucleotide variant not provided [RCV002094032] Chr10:47350477 [GRCh38]
Chr10:48388885 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.1623C>T (p.Thr541=) single nucleotide variant not provided [RCV002212823] Chr10:47350107 [GRCh38]
Chr10:48389255 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.1551G>A (p.Thr517=) single nucleotide variant not provided [RCV002105348] Chr10:47350035 [GRCh38]
Chr10:48389327 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.2280G>A (p.Val760=) single nucleotide variant not provided [RCV002150121] Chr10:47350764 [GRCh38]
Chr10:48388598 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.984G>A (p.Gly328=) single nucleotide variant not provided [RCV002090646] Chr10:47349468 [GRCh38]
Chr10:48389894 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.318C>T (p.Thr106=) single nucleotide variant not provided [RCV002196557] Chr10:47348802 [GRCh38]
Chr10:48390560 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.3396C>T (p.Arg1132=) single nucleotide variant not provided [RCV002188211] Chr10:47357109 [GRCh38]
Chr10:48382253 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.1303C>T (p.Leu435=) single nucleotide variant not provided [RCV002116297] Chr10:47349787 [GRCh38]
Chr10:48389575 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.759C>T (p.Ile253=) single nucleotide variant not provided [RCV002213207] Chr10:47349243 [GRCh38]
Chr10:48390119 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.2817G>T (p.Thr939=) single nucleotide variant not provided [RCV002085951] Chr10:47351301 [GRCh38]
Chr10:48388061 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.1137G>A (p.Ala379=) single nucleotide variant not provided [RCV002116819] Chr10:47349621 [GRCh38]
Chr10:48389741 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.2598G>A (p.Thr866=) single nucleotide variant not provided [RCV002166744] Chr10:47351082 [GRCh38]
Chr10:48388280 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.1788C>T (p.Leu596=) single nucleotide variant not provided [RCV002213070] Chr10:47350272 [GRCh38]
Chr10:48389090 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.2361C>A (p.Gly787=) single nucleotide variant not provided [RCV002132978] Chr10:47350845 [GRCh38]
Chr10:48388517 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.1602A>G (p.Gln534=) single nucleotide variant not provided [RCV002201265] Chr10:47350086 [GRCh38]
Chr10:48389276 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.3468T>C (p.Tyr1156=) single nucleotide variant not provided [RCV002135432] Chr10:47357181 [GRCh38]
Chr10:48382181 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.1755C>G (p.Pro585=) single nucleotide variant not provided [RCV002220689] Chr10:47350239 [GRCh38]
Chr10:48389123 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.1098A>G (p.Glu366=) single nucleotide variant RBP3-related disorder [RCV003984170]|not provided [RCV002179668] Chr10:47349582 [GRCh38]
Chr10:48389780 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.606C>T (p.Arg202=) single nucleotide variant not provided [RCV002182775] Chr10:47349090 [GRCh38]
Chr10:48390272 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.2742C>T (p.Pro914=) single nucleotide variant RBP3-related disorder [RCV003951242]|not provided [RCV002143112] Chr10:47351226 [GRCh38]
Chr10:48388136 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.498G>A (p.Val166=) single nucleotide variant not provided [RCV002184824] Chr10:47348982 [GRCh38]
Chr10:48390380 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.780G>A (p.Gly260=) single nucleotide variant not provided [RCV002217445] Chr10:47349264 [GRCh38]
Chr10:48390098 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.1527C>T (p.Thr509=) single nucleotide variant not provided [RCV002217608] Chr10:47350011 [GRCh38]
Chr10:48389351 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.3450C>T (p.Thr1150=) single nucleotide variant not provided [RCV002164435] Chr10:47357163 [GRCh38]
Chr10:48382199 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.3245+8G>C single nucleotide variant not provided [RCV002202901] Chr10:47353523 [GRCh38]
Chr10:48385839 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.3528G>A (p.Gln1176=) single nucleotide variant not provided [RCV002202192] Chr10:47357241 [GRCh38]
Chr10:48382121 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.3055-12C>T single nucleotide variant not provided [RCV002217349] Chr10:47353313 [GRCh38]
Chr10:48386049 [GRCh37]
Chr10:10q11.22
benign
NM_002900.3(RBP3):c.2031G>C (p.Val677=) single nucleotide variant not provided [RCV002162297] Chr10:47350515 [GRCh38]
Chr10:48388847 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.2002C>T (p.Leu668=) single nucleotide variant not provided [RCV002118949] Chr10:47350486 [GRCh38]
Chr10:48388876 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.1299G>A (p.Ser433=) single nucleotide variant not provided [RCV002218179] Chr10:47349783 [GRCh38]
Chr10:48389579 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.1461T>C (p.Ser487=) single nucleotide variant not provided [RCV002175230] Chr10:47349945 [GRCh38]
Chr10:48389417 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.3213C>A (p.Ile1071=) single nucleotide variant not provided [RCV002175834] Chr10:47353483 [GRCh38]
Chr10:48385879 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.1677G>T (p.Leu559=) single nucleotide variant not provided [RCV002181790] Chr10:47350161 [GRCh38]
Chr10:48389201 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.1710G>A (p.Ala570=) single nucleotide variant not provided [RCV002118757] Chr10:47350194 [GRCh38]
Chr10:48389168 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.2829G>T (p.Thr943=) single nucleotide variant not provided [RCV002182261] Chr10:47351313 [GRCh38]
Chr10:48388049 [GRCh37]
Chr10:10q11.22
likely benign
NC_000010.10:g.(?_48381905)_(48416693_?)del deletion not provided [RCV003113149] Chr10:48381905..48416693 [GRCh37]
Chr10:10q11.22
pathogenic
NM_002900.3(RBP3):c.3456G>A (p.Glu1152=) single nucleotide variant not provided [RCV003114851] Chr10:47357169 [GRCh38]
Chr10:48382193 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.3629G>A (p.Gly1210Glu) single nucleotide variant not provided [RCV003112267] Chr10:47357342 [GRCh38]
Chr10:48382020 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.1478T>C (p.Leu493Pro) single nucleotide variant not provided [RCV003115726] Chr10:47349962 [GRCh38]
Chr10:48389400 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.1199C>T (p.Ala400Val) single nucleotide variant not provided [RCV003115796] Chr10:47349683 [GRCh38]
Chr10:48389679 [GRCh37]
Chr10:10q11.22
uncertain significance
GRCh37/hg19 10q11.22-11.23(chr10:46287821-51627470)x1 copy number loss See cases [RCV002293401] Chr10:46287821..51627470 [GRCh37]
Chr10:10q11.22-11.23
pathogenic
NM_002900.3(RBP3):c.1363G>C (p.Val455Leu) single nucleotide variant not provided [RCV002297236] Chr10:47349847 [GRCh38]
Chr10:48389515 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.2830G>A (p.Ala944Thr) single nucleotide variant not provided [RCV002297470] Chr10:47351314 [GRCh38]
Chr10:48388048 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.754G>A (p.Ala252Thr) single nucleotide variant Inborn genetic diseases [RCV003281635] Chr10:47349238 [GRCh38]
Chr10:48390124 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.1412C>A (p.Thr471Lys) single nucleotide variant Retinitis pigmentosa 66 [RCV003130393] Chr10:47349896 [GRCh38]
Chr10:48389466 [GRCh37]
Chr10:10q11.22
uncertain significance
GRCh37/hg19 10q11.22-11.23(chr10:46966534-51903756)x3 copy number gain not provided [RCV002472545] Chr10:46966534..51903756 [GRCh37]
Chr10:10q11.22-11.23
likely pathogenic|uncertain significance
NM_002900.3(RBP3):c.1472del (p.Leu491fs) deletion Retinitis pigmentosa 66 [RCV002468771] Chr10:47349956 [GRCh38]
Chr10:48389406 [GRCh37]
Chr10:10q11.22
likely pathogenic
GRCh37/hg19 10q11.22-11.23(chr10:46269493-51874356)x1 copy number loss not provided [RCV002474544] Chr10:46269493..51874356 [GRCh37]
Chr10:10q11.22-11.23
likely pathogenic
GRCh37/hg19 10q11.22-11.23(chr10:46966534-51700837)x1 copy number loss not provided [RCV002474530] Chr10:46966534..51700837 [GRCh37]
Chr10:10q11.22-11.23
likely pathogenic
NM_002900.3(RBP3):c.3729G>C (p.Leu1243=) single nucleotide variant not provided [RCV002858170] Chr10:47357442 [GRCh38]
Chr10:48381920 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.357G>T (p.Arg119Ser) single nucleotide variant Inborn genetic diseases [RCV003287705] Chr10:47348841 [GRCh38]
Chr10:48390521 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.319A>G (p.Ser107Gly) single nucleotide variant not provided [RCV002303439] Chr10:47348803 [GRCh38]
Chr10:48390559 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.3215T>C (p.Met1072Thr) single nucleotide variant not provided [RCV002303112] Chr10:47353485 [GRCh38]
Chr10:48385877 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.426G>A (p.Glu142=) single nucleotide variant not provided [RCV002730672] Chr10:47348910 [GRCh38]
Chr10:48390452 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.2341G>A (p.Asp781Asn) single nucleotide variant Retinal dystrophy [RCV003889230]|not provided [RCV003075210] Chr10:47350825 [GRCh38]
Chr10:48388537 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.2697G>A (p.Met899Ile) single nucleotide variant not provided [RCV002750472] Chr10:47351181 [GRCh38]
Chr10:48388181 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.1571T>A (p.Met524Lys) single nucleotide variant not provided [RCV003011824] Chr10:47350055 [GRCh38]
Chr10:48389307 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.1227del (p.Val411fs) deletion not provided [RCV002511630] Chr10:47349711 [GRCh38]
Chr10:48389651 [GRCh37]
Chr10:10q11.22
pathogenic|likely pathogenic
NM_002900.3(RBP3):c.2423A>G (p.His808Arg) single nucleotide variant not provided [RCV003032902] Chr10:47350907 [GRCh38]
Chr10:48388455 [GRCh37]
Chr10:10q11.22
uncertain significance
GRCh37/hg19 10q11.22-11.23(chr10:46584432-51974628)x3 copy number gain not provided [RCV002511649] Chr10:46584432..51974628 [GRCh37]
Chr10:10q11.22-11.23
uncertain significance
NM_002900.3(RBP3):c.1734G>A (p.Thr578=) single nucleotide variant not provided [RCV002775725] Chr10:47350218 [GRCh38]
Chr10:48389144 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.2991C>T (p.His997=) single nucleotide variant not provided [RCV002908314] Chr10:47351475 [GRCh38]
Chr10:48387887 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.1611G>A (p.Val537=) single nucleotide variant not provided [RCV003017049] Chr10:47350095 [GRCh38]
Chr10:48389267 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.2340C>T (p.Ile780=) single nucleotide variant Retinal dystrophy [RCV003889157]|not provided [RCV002750133] Chr10:47350824 [GRCh38]
Chr10:48388538 [GRCh37]
Chr10:10q11.22
likely benign|uncertain significance
NM_002900.3(RBP3):c.3473T>C (p.Met1158Thr) single nucleotide variant not provided [RCV003015777] Chr10:47357186 [GRCh38]
Chr10:48382176 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.249C>T (p.Asn83=) single nucleotide variant not provided [RCV003034280] Chr10:47348733 [GRCh38]
Chr10:48390629 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.2866G>T (p.Glu956Ter) single nucleotide variant not provided [RCV002908327] Chr10:47351350 [GRCh38]
Chr10:48388012 [GRCh37]
Chr10:10q11.22
pathogenic
NM_002900.3(RBP3):c.892G>C (p.Gly298Arg) single nucleotide variant Inborn genetic diseases [RCV002997790] Chr10:47349376 [GRCh38]
Chr10:48389986 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.3577C>T (p.Pro1193Ser) single nucleotide variant not provided [RCV002903667] Chr10:47357290 [GRCh38]
Chr10:48382072 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.2598G>C (p.Thr866=) single nucleotide variant not provided [RCV003017692] Chr10:47351082 [GRCh38]
Chr10:48388280 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.3245+14G>T single nucleotide variant not provided [RCV002618542] Chr10:47353529 [GRCh38]
Chr10:48385833 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.2540C>A (p.Thr847Asn) single nucleotide variant not provided [RCV002730348] Chr10:47351024 [GRCh38]
Chr10:48388338 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.705C>G (p.Thr235=) single nucleotide variant not provided [RCV003017401] Chr10:47349189 [GRCh38]
Chr10:48390173 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.1073A>G (p.Asp358Gly) single nucleotide variant not provided [RCV002995590] Chr10:47349557 [GRCh38]
Chr10:48389805 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.3245+15G>T single nucleotide variant not provided [RCV002858351] Chr10:47353530 [GRCh38]
Chr10:48385832 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.1994G>A (p.Arg665Gln) single nucleotide variant not provided [RCV002968034] Chr10:47350478 [GRCh38]
Chr10:48388884 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.1515C>T (p.His505=) single nucleotide variant not provided [RCV002731084] Chr10:47349999 [GRCh38]
Chr10:48389363 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.1618C>T (p.Leu540Phe) single nucleotide variant Inborn genetic diseases [RCV002944068]|Retinal dystrophy [RCV004817151]|not provided [RCV002971924] Chr10:47350102 [GRCh38]
Chr10:48389260 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.2749A>T (p.Thr917Ser) single nucleotide variant Inborn genetic diseases [RCV002860941] Chr10:47351233 [GRCh38]
Chr10:48388129 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.3194A>T (p.Glu1065Val) single nucleotide variant not provided [RCV003016081] Chr10:47353464 [GRCh38]
Chr10:48385898 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.1718T>C (p.Leu573Pro) single nucleotide variant not provided [RCV003015560] Chr10:47350202 [GRCh38]
Chr10:48389160 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.2006C>G (p.Ala669Gly) single nucleotide variant not provided [RCV002618378] Chr10:47350490 [GRCh38]
Chr10:48388872 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.1327C>T (p.Arg443Cys) single nucleotide variant Inborn genetic diseases [RCV002615602]|not provided [RCV002627825] Chr10:47349811 [GRCh38]
Chr10:48389551 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.2274G>A (p.Lys758=) single nucleotide variant not provided [RCV002857842] Chr10:47350758 [GRCh38]
Chr10:48388604 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.810G>C (p.Arg270Ser) single nucleotide variant Inborn genetic diseases [RCV003348960]|not provided [RCV002967458] Chr10:47349294 [GRCh38]
Chr10:48390068 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.2898C>A (p.Ser966Arg) single nucleotide variant Inborn genetic diseases [RCV003308292]|not provided [RCV002819323] Chr10:47351382 [GRCh38]
Chr10:48387980 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.2626G>A (p.Ala876Thr) single nucleotide variant not provided [RCV002971579] Chr10:47351110 [GRCh38]
Chr10:48388252 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.1565G>A (p.Ser522Asn) single nucleotide variant not provided [RCV002618500] Chr10:47350049 [GRCh38]
Chr10:48389313 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.984G>T (p.Gly328=) single nucleotide variant not provided [RCV002681521] Chr10:47349468 [GRCh38]
Chr10:48389894 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.1889T>C (p.Leu630Pro) single nucleotide variant not provided [RCV002617673] Chr10:47350373 [GRCh38]
Chr10:48388989 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.3417G>A (p.Met1139Ile) single nucleotide variant not provided [RCV002740278] Chr10:47357130 [GRCh38]
Chr10:48382232 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.2T>C (p.Met1Thr) single nucleotide variant not provided [RCV002913306] Chr10:47348486 [GRCh38]
Chr10:48390876 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.2776A>G (p.Ile926Val) single nucleotide variant not provided [RCV002761094] Chr10:47351260 [GRCh38]
Chr10:48388102 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.3389-10T>C single nucleotide variant not provided [RCV003054685] Chr10:47357092 [GRCh38]
Chr10:48382270 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.3195G>C (p.Glu1065Asp) single nucleotide variant not provided [RCV003039605] Chr10:47353465 [GRCh38]
Chr10:48385897 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.2705C>G (p.Thr902Ser) single nucleotide variant not provided [RCV002740164] Chr10:47351189 [GRCh38]
Chr10:48388173 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.385A>T (p.Asn129Tyr) single nucleotide variant Inborn genetic diseases [RCV002869575] Chr10:47348869 [GRCh38]
Chr10:48390493 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.2164T>C (p.Ser722Pro) single nucleotide variant not provided [RCV003055457] Chr10:47350648 [GRCh38]
Chr10:48388714 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.709G>T (p.Gly237Cys) single nucleotide variant Inborn genetic diseases [RCV002981249] Chr10:47349193 [GRCh38]
Chr10:48390169 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.2422C>A (p.His808Asn) single nucleotide variant not provided [RCV003000082] Chr10:47350906 [GRCh38]
Chr10:48388456 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.543C>T (p.Pro181=) single nucleotide variant not provided [RCV003018061] Chr10:47349027 [GRCh38]
Chr10:48390335 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.1914C>A (p.Ala638=) single nucleotide variant not provided [RCV003020619] Chr10:47350398 [GRCh38]
Chr10:48388964 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.1637C>T (p.Ala546Val) single nucleotide variant Retinal dystrophy [RCV004817075]|not provided [RCV002618971] Chr10:47350121 [GRCh38]
Chr10:48389241 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.467G>T (p.Trp156Leu) single nucleotide variant Inborn genetic diseases [RCV003170849]|not provided [RCV002999859] Chr10:47348951 [GRCh38]
Chr10:48390411 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.2523C>T (p.Tyr841=) single nucleotide variant not provided [RCV002949190] Chr10:47351007 [GRCh38]
Chr10:48388355 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.229G>C (p.Gly77Arg) single nucleotide variant not provided [RCV003053277] Chr10:47348713 [GRCh38]
Chr10:48390649 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.864C>T (p.Pro288=) single nucleotide variant not provided [RCV003017944] Chr10:47349348 [GRCh38]
Chr10:48390014 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.1709C>T (p.Ala570Val) single nucleotide variant Inborn genetic diseases [RCV002799093]|Retinal dystrophy [RCV003889270] Chr10:47350193 [GRCh38]
Chr10:48389169 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.1603C>G (p.Arg535Gly) single nucleotide variant not provided [RCV003002398] Chr10:47350087 [GRCh38]
Chr10:48389275 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.898G>A (p.Gly300Arg) single nucleotide variant not provided [RCV002639965] Chr10:47349382 [GRCh38]
Chr10:48389980 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.2924T>C (p.Val975Ala) single nucleotide variant not provided [RCV002976714] Chr10:47351408 [GRCh38]
Chr10:48387954 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.1683G>A (p.Trp561Ter) single nucleotide variant not provided [RCV003018057] Chr10:47350167 [GRCh38]
Chr10:48389195 [GRCh37]
Chr10:10q11.22
pathogenic
NM_002900.3(RBP3):c.1283C>T (p.Ser428Phe) single nucleotide variant not provided [RCV002781181] Chr10:47349767 [GRCh38]
Chr10:48389595 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.3631G>A (p.Val1211Met) single nucleotide variant not provided [RCV002735311] Chr10:47357344 [GRCh38]
Chr10:48382018 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.2361C>G (p.Gly787=) single nucleotide variant not provided [RCV003054088] Chr10:47350845 [GRCh38]
Chr10:48388517 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.1608G>A (p.Gly536=) single nucleotide variant not provided [RCV002695778] Chr10:47350092 [GRCh38]
Chr10:48389270 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.1553A>C (p.Gln518Pro) single nucleotide variant not provided [RCV002705380] Chr10:47350037 [GRCh38]
Chr10:48389325 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.3246-7C>A single nucleotide variant not provided [RCV002847471] Chr10:47355369 [GRCh38]
Chr10:48383993 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.2185C>A (p.Leu729Ile) single nucleotide variant Inborn genetic diseases [RCV004065671]|not provided [RCV002590758] Chr10:47350669 [GRCh38]
Chr10:48388693 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.3123C>T (p.Asn1041=) single nucleotide variant not provided [RCV002870727] Chr10:47353393 [GRCh38]
Chr10:48385969 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.2118C>G (p.Gly706=) single nucleotide variant not provided [RCV002761713] Chr10:47350602 [GRCh38]
Chr10:48388760 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.1077C>T (p.Phe359=) single nucleotide variant not provided [RCV002999771] Chr10:47349561 [GRCh38]
Chr10:48389801 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.672C>T (p.Asp224=) single nucleotide variant not provided [RCV003020016] Chr10:47349156 [GRCh38]
Chr10:48390206 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.2675C>T (p.Ser892Phe) single nucleotide variant not provided [RCV002927269] Chr10:47351159 [GRCh38]
Chr10:48388203 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.228C>T (p.Ala76=) single nucleotide variant not provided [RCV002621035] Chr10:47348712 [GRCh38]
Chr10:48390650 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.3140T>C (p.Phe1047Ser) single nucleotide variant not provided [RCV002695192] Chr10:47353410 [GRCh38]
Chr10:48385952 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.1328G>C (p.Arg443Pro) single nucleotide variant not provided [RCV003058003] Chr10:47349812 [GRCh38]
Chr10:48389550 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.2464G>A (p.Glu822Lys) single nucleotide variant not provided [RCV002576245] Chr10:47350948 [GRCh38]
Chr10:48388414 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.3485G>A (p.Gly1162Asp) single nucleotide variant not provided [RCV003026231] Chr10:47357198 [GRCh38]
Chr10:48382164 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.282C>A (p.Ser94Arg) single nucleotide variant not provided [RCV002712044] Chr10:47348766 [GRCh38]
Chr10:48390596 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.955A>T (p.Ile319Phe) single nucleotide variant not provided [RCV003007943] Chr10:47349439 [GRCh38]
Chr10:48389923 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.948C>T (p.Ala316=) single nucleotide variant not provided [RCV002700581] Chr10:47349432 [GRCh38]
Chr10:48389930 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.3714G>A (p.Lys1238=) single nucleotide variant not provided [RCV002626640] Chr10:47357427 [GRCh38]
Chr10:48381935 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.132C>G (p.Asn44Lys) single nucleotide variant not provided [RCV002710185] Chr10:47348616 [GRCh38]
Chr10:48390746 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.669C>A (p.Ala223=) single nucleotide variant not provided [RCV002643040] Chr10:47349153 [GRCh38]
Chr10:48390209 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.740A>G (p.Lys247Arg) single nucleotide variant not provided [RCV002642198] Chr10:47349224 [GRCh38]
Chr10:48390138 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.3256G>A (p.Gly1086Ser) single nucleotide variant not provided [RCV002593853] Chr10:47355386 [GRCh38]
Chr10:48383976 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.3054+20T>C single nucleotide variant not provided [RCV002594354] Chr10:47351558 [GRCh38]
Chr10:48387804 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.1631G>T (p.Arg544Leu) single nucleotide variant not provided [RCV003041130] Chr10:47350115 [GRCh38]
Chr10:48389247 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.1320C>T (p.Gly440=) single nucleotide variant not provided [RCV002663285] Chr10:47349804 [GRCh38]
Chr10:48389558 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.2928C>T (p.Thr976=) single nucleotide variant not provided [RCV002890582] Chr10:47351412 [GRCh38]
Chr10:48387950 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.1171G>C (p.Gly391Arg) single nucleotide variant not provided [RCV003005240] Chr10:47349655 [GRCh38]
Chr10:48389707 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.3261C>A (p.Gly1087=) single nucleotide variant not provided [RCV002663597] Chr10:47355391 [GRCh38]
Chr10:48383971 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.3654T>C (p.Pro1218=) single nucleotide variant not provided [RCV002575364] Chr10:47357367 [GRCh38]
Chr10:48381995 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.3481C>T (p.Leu1161=) single nucleotide variant not provided [RCV002853391] Chr10:47357194 [GRCh38]
Chr10:48382168 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.2353A>G (p.Asn785Asp) single nucleotide variant Inborn genetic diseases [RCV003250520]|not provided [RCV002573163] Chr10:47350837 [GRCh38]
Chr10:48388525 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.1476C>G (p.Leu492=) single nucleotide variant not provided [RCV003058022] Chr10:47349960 [GRCh38]
Chr10:48389402 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.434G>C (p.Ser145Thr) single nucleotide variant not provided [RCV002625833] Chr10:47348918 [GRCh38]
Chr10:48390444 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.712G>A (p.Val238Met) single nucleotide variant not provided [RCV002644354] Chr10:47349196 [GRCh38]
Chr10:48390166 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.1887G>A (p.Val629=) single nucleotide variant not provided [RCV002852150] Chr10:47350371 [GRCh38]
Chr10:48388991 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.1957C>T (p.Arg653Trp) single nucleotide variant Inborn genetic diseases [RCV002666729]|not provided [RCV002649930] Chr10:47350441 [GRCh38]
Chr10:48388921 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.3515G>A (p.Ser1172Asn) single nucleotide variant not provided [RCV002701070] Chr10:47357228 [GRCh38]
Chr10:48382134 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.2911C>T (p.Arg971Cys) single nucleotide variant not provided [RCV002626698] Chr10:47351395 [GRCh38]
Chr10:48387967 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.2014G>A (p.Ala672Thr) single nucleotide variant not provided [RCV002701278] Chr10:47350498 [GRCh38]
Chr10:48388864 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.3533C>T (p.Pro1178Leu) single nucleotide variant not provided [RCV002700179] Chr10:47357246 [GRCh38]
Chr10:48382116 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.3331A>T (p.Ile1111Phe) single nucleotide variant not provided [RCV002642265] Chr10:47355461 [GRCh38]
Chr10:48383901 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.1360G>A (p.Gly454Ser) single nucleotide variant not provided [RCV002711895] Chr10:47349844 [GRCh38]
Chr10:48389518 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.3457G>A (p.Glu1153Lys) single nucleotide variant not provided [RCV002626396] Chr10:47357170 [GRCh38]
Chr10:48382192 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.1040T>G (p.Val347Gly) single nucleotide variant not provided [RCV002957897] Chr10:47349524 [GRCh38]
Chr10:48389838 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.1777G>A (p.Val593Met) single nucleotide variant Retinal dystrophy [RCV003889119]|not provided [RCV002574377] Chr10:47350261 [GRCh38]
Chr10:48389101 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.542C>T (p.Pro181Leu) single nucleotide variant not provided [RCV002957482] Chr10:47349026 [GRCh38]
Chr10:48390336 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.1330T>G (p.Phe444Val) single nucleotide variant Inborn genetic diseases [RCV002748455] Chr10:47349814 [GRCh38]
Chr10:48389548 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.3396C>A (p.Arg1132=) single nucleotide variant not provided [RCV002721300] Chr10:47357109 [GRCh38]
Chr10:48382253 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.2220C>T (p.Pro740=) single nucleotide variant not provided [RCV003088121] Chr10:47350704 [GRCh38]
Chr10:48388658 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.2352C>A (p.Tyr784Ter) single nucleotide variant not provided [RCV002810842] Chr10:47350836 [GRCh38]
Chr10:48388526 [GRCh37]
Chr10:10q11.22
pathogenic
NM_002900.3(RBP3):c.2268A>C (p.Thr756=) single nucleotide variant not provided [RCV003047586] Chr10:47350752 [GRCh38]
Chr10:48388610 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.3576C>T (p.Ile1192=) single nucleotide variant not provided [RCV002941992] Chr10:47357289 [GRCh38]
Chr10:48382073 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.2042C>T (p.Ser681Phe) single nucleotide variant not provided [RCV003031889] Chr10:47350526 [GRCh38]
Chr10:48388836 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.1071G>T (p.Met357Ile) single nucleotide variant not provided [RCV002601861] Chr10:47349555 [GRCh38]
Chr10:48389807 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.3547G>A (p.Val1183Met) single nucleotide variant Inborn genetic diseases [RCV004673689]|not provided [RCV002601279] Chr10:47357260 [GRCh38]
Chr10:48382102 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.3444del (p.Gly1149fs) deletion not provided [RCV003010043] Chr10:47357156 [GRCh38]
Chr10:48382205 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.500T>C (p.Leu167Pro) single nucleotide variant not provided [RCV003047789] Chr10:47348984 [GRCh38]
Chr10:48390378 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.3309C>A (p.Gly1103=) single nucleotide variant not provided [RCV002898605] Chr10:47355439 [GRCh38]
Chr10:48383923 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.1220A>T (p.Asp407Val) single nucleotide variant not provided [RCV002649794] Chr10:47349704 [GRCh38]
Chr10:48389658 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.232G>A (p.Val78Met) single nucleotide variant not provided [RCV002720821] Chr10:47348716 [GRCh38]
Chr10:48390646 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.3605A>G (p.Asp1202Gly) single nucleotide variant not provided [RCV003030522] Chr10:47357318 [GRCh38]
Chr10:48382044 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.1858G>A (p.Glu620Lys) single nucleotide variant not provided [RCV002962478] Chr10:47350342 [GRCh38]
Chr10:48389020 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.3500T>C (p.Ile1167Thr) single nucleotide variant Inborn genetic diseases [RCV002934561] Chr10:47357213 [GRCh38]
Chr10:48382149 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.1577T>C (p.Leu526Pro) single nucleotide variant not provided [RCV002806667] Chr10:47350061 [GRCh38]
Chr10:48389301 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.1863G>A (p.Glu621=) single nucleotide variant not provided [RCV003044073] Chr10:47350347 [GRCh38]
Chr10:48389015 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.1036C>T (p.Arg346Cys) single nucleotide variant Retinal dystrophy [RCV003889178]|not provided [RCV002895818] Chr10:47349520 [GRCh38]
Chr10:48389842 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.1781C>T (p.Pro594Leu) single nucleotide variant Inborn genetic diseases [RCV002877839] Chr10:47350265 [GRCh38]
Chr10:48389097 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.1115T>A (p.Leu372His) single nucleotide variant not provided [RCV002646057] Chr10:47349599 [GRCh38]
Chr10:48389763 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.2202C>G (p.Phe734Leu) single nucleotide variant not provided [RCV003045727] Chr10:47350686 [GRCh38]
Chr10:48388676 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.470G>A (p.Gly157Glu) single nucleotide variant not provided [RCV002646586] Chr10:47348954 [GRCh38]
Chr10:48390408 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.3125T>C (p.Ile1042Thr) single nucleotide variant not provided [RCV003045304] Chr10:47353395 [GRCh38]
Chr10:48385967 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.1993C>T (p.Arg665Trp) single nucleotide variant not provided [RCV002630492] Chr10:47350477 [GRCh38]
Chr10:48388885 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.3260G>A (p.Gly1087Asp) single nucleotide variant not provided [RCV003029345] Chr10:47355390 [GRCh38]
Chr10:48383972 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.3039A>T (p.Gly1013=) single nucleotide variant not provided [RCV002672134] Chr10:47351523 [GRCh38]
Chr10:48387839 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.582G>A (p.Leu194=) single nucleotide variant not provided [RCV002597619] Chr10:47349066 [GRCh38]
Chr10:48390296 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.315C>T (p.Leu105=) single nucleotide variant not provided [RCV003009304] Chr10:47348799 [GRCh38]
Chr10:48390563 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.596T>C (p.Ile199Thr) single nucleotide variant Retinal dystrophy [RCV003889193]|not provided [RCV002959189] Chr10:47349080 [GRCh38]
Chr10:48390282 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.603C>T (p.Asn201=) single nucleotide variant not provided [RCV002806536] Chr10:47349087 [GRCh38]
Chr10:48390275 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.772C>T (p.Arg258Trp) single nucleotide variant not provided [RCV002938127] Chr10:47349256 [GRCh38]
Chr10:48390106 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.1818G>T (p.Trp606Cys) single nucleotide variant not provided [RCV002631492] Chr10:47350302 [GRCh38]
Chr10:48389060 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.2137G>T (p.Ala713Ser) single nucleotide variant Inborn genetic diseases [RCV002702584] Chr10:47350621 [GRCh38]
Chr10:48388741 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.3388+14C>A single nucleotide variant not provided [RCV002720371] Chr10:47355532 [GRCh38]
Chr10:48383830 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.1157T>A (p.Leu386Gln) single nucleotide variant not provided [RCV002811600] Chr10:47349641 [GRCh38]
Chr10:48389721 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.1487T>A (p.Phe496Tyr) single nucleotide variant not provided [RCV003008951] Chr10:47349971 [GRCh38]
Chr10:48389391 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.2502C>A (p.Tyr834Ter) single nucleotide variant not provided [RCV002833887] Chr10:47350986 [GRCh38]
Chr10:48388376 [GRCh37]
Chr10:10q11.22
pathogenic
NM_002900.3(RBP3):c.2669A>G (p.Tyr890Cys) single nucleotide variant not provided [RCV002602035] Chr10:47351153 [GRCh38]
Chr10:48388209 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.1630C>T (p.Arg544Cys) single nucleotide variant Inborn genetic diseases [RCV002897923] Chr10:47350114 [GRCh38]
Chr10:48389248 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.1504G>C (p.Gly502Arg) single nucleotide variant not provided [RCV002746161] Chr10:47349988 [GRCh38]
Chr10:48389374 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.817G>A (p.Glu273Lys) single nucleotide variant Inborn genetic diseases [RCV004066785]|not provided [RCV002671200] Chr10:47349301 [GRCh38]
Chr10:48390061 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.1943A>G (p.Glu648Gly) single nucleotide variant not provided [RCV002899330] Chr10:47350427 [GRCh38]
Chr10:48388935 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.2800C>T (p.Arg934Cys) single nucleotide variant Inborn genetic diseases [RCV004958669]|not provided [RCV002627730] Chr10:47351284 [GRCh38]
Chr10:48388078 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.2727G>A (p.Leu909=) single nucleotide variant not provided [RCV002646656] Chr10:47351211 [GRCh38]
Chr10:48388151 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.2818G>A (p.Val940Met) single nucleotide variant not provided [RCV002833903] Chr10:47351302 [GRCh38]
Chr10:48388060 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.1926C>T (p.Gly642=) single nucleotide variant not provided [RCV002632109] Chr10:47350410 [GRCh38]
Chr10:48388952 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.2203A>G (p.Lys735Glu) single nucleotide variant not provided [RCV002966843] Chr10:47350687 [GRCh38]
Chr10:48388675 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.975C>T (p.Ala325=) single nucleotide variant not provided [RCV003010029] Chr10:47349459 [GRCh38]
Chr10:48389903 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.885G>A (p.Thr295=) single nucleotide variant not provided [RCV003086144] Chr10:47349369 [GRCh38]
Chr10:48389993 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.973G>C (p.Ala325Pro) single nucleotide variant not provided [RCV002921971] Chr10:47349457 [GRCh38]
Chr10:48389905 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.985G>T (p.Val329Leu) single nucleotide variant not provided [RCV002649897] Chr10:47349469 [GRCh38]
Chr10:48389893 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.2487C>T (p.Val829=) single nucleotide variant not provided [RCV002634721] Chr10:47350971 [GRCh38]
Chr10:48388391 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.1392G>A (p.Val464=) single nucleotide variant not provided [RCV003049644] Chr10:47349876 [GRCh38]
Chr10:48389486 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.2799G>C (p.Leu933=) single nucleotide variant not provided [RCV002584260] Chr10:47351283 [GRCh38]
Chr10:48388079 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.1746G>A (p.Leu582=) single nucleotide variant not provided [RCV002814550] Chr10:47350230 [GRCh38]
Chr10:48389132 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.2101G>C (p.Val701Leu) single nucleotide variant not provided [RCV002676745] Chr10:47350585 [GRCh38]
Chr10:48388777 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.640C>A (p.Pro214Thr) single nucleotide variant not provided [RCV002676779] Chr10:47349124 [GRCh38]
Chr10:48390238 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.1089C>A (p.Val363=) single nucleotide variant not provided [RCV003049645] Chr10:47349573 [GRCh38]
Chr10:48389789 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.1110C>G (p.Thr370=) single nucleotide variant not provided [RCV002653996] Chr10:47349594 [GRCh38]
Chr10:48389768 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.3117G>A (p.Glu1039=) single nucleotide variant not provided [RCV002608376] Chr10:47353387 [GRCh38]
Chr10:48385975 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.1268A>C (p.Gln423Pro) single nucleotide variant Inborn genetic diseases [RCV004961114]|not provided [RCV002606510] Chr10:47349752 [GRCh38]
Chr10:48389610 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.2650G>C (p.Val884Leu) single nucleotide variant not provided [RCV002605362] Chr10:47351134 [GRCh38]
Chr10:48388228 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.968G>A (p.Arg323His) single nucleotide variant not provided [RCV002590085] Chr10:47349452 [GRCh38]
Chr10:48389910 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.1733C>T (p.Thr578Met) single nucleotide variant not provided [RCV002590197] Chr10:47350217 [GRCh38]
Chr10:48389145 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.2336T>A (p.Val779Glu) single nucleotide variant Inborn genetic diseases [RCV002723151] Chr10:47350820 [GRCh38]
Chr10:48388542 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.1047C>A (p.Thr349=) single nucleotide variant not provided [RCV002604217] Chr10:47349531 [GRCh38]
Chr10:48389831 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.1203C>T (p.Pro401=) single nucleotide variant not provided [RCV002612860] Chr10:47349687 [GRCh38]
Chr10:48389675 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.2814C>T (p.Pro938=) single nucleotide variant not provided [RCV002590298] Chr10:47351298 [GRCh38]
Chr10:48388064 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.1177A>G (p.Thr393Ala) single nucleotide variant not provided [RCV002590299] Chr10:47349661 [GRCh38]
Chr10:48389701 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.421C>T (p.Gln141Ter) single nucleotide variant Retinal dystrophy [RCV004817057]|not provided [RCV002612928] Chr10:47348905 [GRCh38]
Chr10:48390457 [GRCh37]
Chr10:10q11.22
pathogenic
NM_002900.3(RBP3):c.1729C>G (p.Arg577Gly) single nucleotide variant not provided [RCV002613041] Chr10:47350213 [GRCh38]
Chr10:48389149 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.951G>A (p.Leu317=) single nucleotide variant not provided [RCV003050415] Chr10:47349435 [GRCh38]
Chr10:48389927 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.3054+15A>G single nucleotide variant not provided [RCV002608130] Chr10:47351553 [GRCh38]
Chr10:48387809 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.2515G>A (p.Asp839Asn) single nucleotide variant not provided [RCV002585816] Chr10:47350999 [GRCh38]
Chr10:48388363 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.2855A>C (p.Tyr952Ser) single nucleotide variant not provided [RCV003052027] Chr10:47351339 [GRCh38]
Chr10:48388023 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.3224A>G (p.Asp1075Gly) single nucleotide variant not provided [RCV003032007] Chr10:47353494 [GRCh38]
Chr10:48385868 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.967C>A (p.Arg323Ser) single nucleotide variant not provided [RCV002612649] Chr10:47349451 [GRCh38]
Chr10:48389911 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.2557G>A (p.Glu853Lys) single nucleotide variant Retinal dystrophy [RCV003889234]|not provided [RCV003073418] Chr10:47351041 [GRCh38]
Chr10:48388321 [GRCh37]
Chr10:10q11.22
uncertain significance
NC_000010.11:g.45704708_(49974954_50015268)del deletion 10q11.22q11.23 deletion syndrome [RCV003221322] Chr10:45704708..49974954 [GRCh38]
Chr10:10q11.22-11.23
likely pathogenic
NM_002900.3(RBP3):c.132C>A (p.Asn44Lys) single nucleotide variant Inborn genetic diseases [RCV003208690] Chr10:47348616 [GRCh38]
Chr10:48390746 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.2752G>A (p.Val918Met) single nucleotide variant Inborn genetic diseases [RCV003198182] Chr10:47351236 [GRCh38]
Chr10:48388126 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.2084G>A (p.Gly695Glu) single nucleotide variant Inborn genetic diseases [RCV003212105] Chr10:47350568 [GRCh38]
Chr10:48388794 [GRCh37]
Chr10:10q11.22
uncertain significance
GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143) copy number gain Distal trisomy 10q [RCV003319593] Chr10:11138692..135427143 [GRCh37]
Chr10:10p14-q26.3
pathogenic
GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143) copy number loss Distal 10q deletion syndrome [RCV003319583] Chr10:12829206..135427143 [GRCh37]
Chr10:10p13-q26.3
pathogenic
NM_002900.3(RBP3):c.3699C>G (p.Asn1233Lys) single nucleotide variant Inborn genetic diseases [RCV003263316] Chr10:47357412 [GRCh38]
Chr10:48381950 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.633G>A (p.Trp211Ter) single nucleotide variant Retinal dystrophy [RCV004816078] Chr10:47349117 [GRCh38]
Chr10:48390245 [GRCh37]
Chr10:10q11.22
pathogenic
GRCh37/hg19 10q11.22-11.23(chr10:46284269-51870080)x1 copy number loss See cases [RCV003329537] Chr10:46284269..51870080 [GRCh37]
Chr10:10q11.22-11.23
pathogenic
NM_002900.3(RBP3):c.3521G>A (p.Gly1174Asp) single nucleotide variant Inborn genetic diseases [RCV003386241] Chr10:47357234 [GRCh38]
Chr10:48382128 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.1836G>T (p.Val612=) single nucleotide variant not provided [RCV003569138] Chr10:47350320 [GRCh38]
Chr10:48389042 [GRCh37]
Chr10:10q11.22
likely benign
GRCh37/hg19 10q11.21-24.2(chr10:42709645-100834951)x3 copy number gain not provided [RCV003484798] Chr10:42709645..100834951 [GRCh37]
Chr10:10q11.21-24.2
pathogenic
GRCh37/hg19 10q11.22-11.23(chr10:48349961-51817663)x3 copy number gain not provided [RCV003484799] Chr10:48349961..51817663 [GRCh37]
Chr10:10q11.22-11.23
uncertain significance
NM_002900.3(RBP3):c.2493C>A (p.Gly831=) single nucleotide variant not provided [RCV003417351] Chr10:47350977 [GRCh38]
Chr10:48388385 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.3354dup (p.Val1119fs) duplication RBP3-related disorder [RCV003391342] Chr10:47355483..47355484 [GRCh38]
Chr10:48383877..48383878 [GRCh37]
Chr10:10q11.22
likely pathogenic
NM_002900.3(RBP3):c.2541C>T (p.Thr847=) single nucleotide variant not provided [RCV003826831] Chr10:47351025 [GRCh38]
Chr10:48388337 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.2514G>A (p.Lys838=) single nucleotide variant not provided [RCV003826925] Chr10:47350998 [GRCh38]
Chr10:48388364 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.637T>C (p.Leu213=) single nucleotide variant not provided [RCV003689917] Chr10:47349121 [GRCh38]
Chr10:48390241 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.2553G>A (p.Ala851=) single nucleotide variant not provided [RCV003826016] Chr10:47351037 [GRCh38]
Chr10:48388325 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.861G>A (p.Gly287=) single nucleotide variant not provided [RCV003663102] Chr10:47349345 [GRCh38]
Chr10:48390017 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.2295G>A (p.Val765=) single nucleotide variant not provided [RCV003826151] Chr10:47350779 [GRCh38]
Chr10:48388583 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.705C>T (p.Thr235=) single nucleotide variant not provided [RCV003580091] Chr10:47349189 [GRCh38]
Chr10:48390173 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.1740G>A (p.Pro580=) single nucleotide variant not provided [RCV003840452] Chr10:47350224 [GRCh38]
Chr10:48389138 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.3395G>A (p.Arg1132His) single nucleotide variant not provided [RCV003673823] Chr10:47357108 [GRCh38]
Chr10:48382254 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.2295G>C (p.Val765=) single nucleotide variant not provided [RCV003659532] Chr10:47350779 [GRCh38]
Chr10:48388583 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.1959G>A (p.Arg653=) single nucleotide variant not provided [RCV003855602] Chr10:47350443 [GRCh38]
Chr10:48388919 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.2262G>A (p.Leu754=) single nucleotide variant not provided [RCV003723717] Chr10:47350746 [GRCh38]
Chr10:48388616 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.2905C>T (p.Gln969Ter) single nucleotide variant not provided [RCV003840296] Chr10:47351389 [GRCh38]
Chr10:48387973 [GRCh37]
Chr10:10q11.22
pathogenic
NM_002900.3(RBP3):c.3531A>G (p.Pro1177=) single nucleotide variant not provided [RCV003700689] Chr10:47357244 [GRCh38]
Chr10:48382118 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.3054+18C>A single nucleotide variant not provided [RCV003666827] Chr10:47351556 [GRCh38]
Chr10:48387806 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.2196C>T (p.Ala732=) single nucleotide variant not provided [RCV003667561] Chr10:47350680 [GRCh38]
Chr10:48388682 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.499C>T (p.Leu167=) single nucleotide variant not provided [RCV003837431] Chr10:47348983 [GRCh38]
Chr10:48390379 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.870T>C (p.Gly290=) single nucleotide variant not provided [RCV003850930] Chr10:47349354 [GRCh38]
Chr10:48390008 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.843C>G (p.Pro281=) single nucleotide variant not provided [RCV003680178] Chr10:47349327 [GRCh38]
Chr10:48390035 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.1122C>T (p.Ala374=) single nucleotide variant not provided [RCV003822586] Chr10:47349606 [GRCh38]
Chr10:48389756 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.1051C>T (p.Leu351=) single nucleotide variant not provided [RCV003682264] Chr10:47349535 [GRCh38]
Chr10:48389827 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.705del (p.Arg236fs) deletion not provided [RCV003678887] Chr10:47349188 [GRCh38]
Chr10:48390173 [GRCh37]
Chr10:10q11.22
pathogenic
NM_002900.3(RBP3):c.3186G>A (p.Leu1062=) single nucleotide variant not provided [RCV003859334] Chr10:47353456 [GRCh38]
Chr10:48385906 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.3426G>A (p.Leu1142=) single nucleotide variant not provided [RCV003680216] Chr10:47357139 [GRCh38]
Chr10:48382223 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.2028T>C (p.Ala676=) single nucleotide variant not provided [RCV003711602] Chr10:47350512 [GRCh38]
Chr10:48388850 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.414C>A (p.Val138=) single nucleotide variant not provided [RCV003680619] Chr10:47348898 [GRCh38]
Chr10:48390464 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.304del (p.Val102fs) deletion not provided [RCV003710494] Chr10:47348788 [GRCh38]
Chr10:48390574 [GRCh37]
Chr10:10q11.22
pathogenic
NM_002900.3(RBP3):c.1440C>T (p.His480=) single nucleotide variant not provided [RCV003676353] Chr10:47349924 [GRCh38]
Chr10:48389438 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.3573T>C (p.Thr1191=) single nucleotide variant not provided [RCV003860410] Chr10:47357286 [GRCh38]
Chr10:48382076 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.2373G>T (p.Thr791=) single nucleotide variant not provided [RCV003567606] Chr10:47350857 [GRCh38]
Chr10:48388505 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.1434G>A (p.Leu478=) single nucleotide variant not provided [RCV003557271] Chr10:47349918 [GRCh38]
Chr10:48389444 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.1899C>T (p.His633=) single nucleotide variant not provided [RCV003708859] Chr10:47350383 [GRCh38]
Chr10:48388979 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.669C>T (p.Ala223=) single nucleotide variant not provided [RCV003846686] Chr10:47349153 [GRCh38]
Chr10:48390209 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.1444C>G (p.Pro482Ala) single nucleotide variant Inborn genetic diseases [RCV004443500] Chr10:47349928 [GRCh38]
Chr10:48389434 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.1666A>G (p.Met556Val) single nucleotide variant Inborn genetic diseases [RCV004443503] Chr10:47350150 [GRCh38]
Chr10:48389212 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.2732G>A (p.Gly911Asp) single nucleotide variant Inborn genetic diseases [RCV004443507] Chr10:47351216 [GRCh38]
Chr10:48388146 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.3166C>T (p.Leu1056Phe) single nucleotide variant Inborn genetic diseases [RCV004443509] Chr10:47353436 [GRCh38]
Chr10:48385926 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.430C>G (p.Leu144Val) single nucleotide variant Inborn genetic diseases [RCV004443513] Chr10:47348914 [GRCh38]
Chr10:48390448 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.1322A>C (p.Tyr441Ser) single nucleotide variant Inborn genetic diseases [RCV004443499] Chr10:47349806 [GRCh38]
Chr10:48389556 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.1558C>A (p.His520Asn) single nucleotide variant Inborn genetic diseases [RCV004443501] Chr10:47350042 [GRCh38]
Chr10:48389320 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.2666T>C (p.Leu889Ser) single nucleotide variant Inborn genetic diseases [RCV004443505] Chr10:47351150 [GRCh38]
Chr10:48388212 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.2687A>G (p.Gln896Arg) single nucleotide variant Inborn genetic diseases [RCV004443506] Chr10:47351171 [GRCh38]
Chr10:48388191 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.2382G>A (p.Pro794=) single nucleotide variant RBP3-related disorder [RCV003951433] Chr10:47350866 [GRCh38]
Chr10:48388496 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.1573G>C (p.Glu525Gln) single nucleotide variant Inborn genetic diseases [RCV004443502] Chr10:47350057 [GRCh38]
Chr10:48389305 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.2532G>A (p.Met844Ile) single nucleotide variant Inborn genetic diseases [RCV004443504] Chr10:47351016 [GRCh38]
Chr10:48388346 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.3440C>G (p.Thr1147Arg) single nucleotide variant Inborn genetic diseases [RCV004443512] Chr10:47357153 [GRCh38]
Chr10:48382209 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.3221C>T (p.Thr1074Met) single nucleotide variant Inborn genetic diseases [RCV004443510]|Retinal dystrophy [RCV004818452] Chr10:47353491 [GRCh38]
Chr10:48385871 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.3356T>C (p.Val1119Ala) single nucleotide variant Inborn genetic diseases [RCV004443511] Chr10:47355486 [GRCh38]
Chr10:48383876 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.1753C>T (p.Pro585Ser) single nucleotide variant Retinal dystrophy [RCV003889534] Chr10:47350237 [GRCh38]
Chr10:48389125 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.1620C>T (p.Leu540=) single nucleotide variant Retinal dystrophy [RCV003889535] Chr10:47350104 [GRCh38]
Chr10:48389258 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.1588C>A (p.Arg530Ser) single nucleotide variant Retinal dystrophy [RCV003889538] Chr10:47350072 [GRCh38]
Chr10:48389290 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.1354G>T (p.Val452Phe) single nucleotide variant Retinal dystrophy [RCV003889541] Chr10:47349838 [GRCh38]
Chr10:48389524 [GRCh37]
Chr10:10q11.22
uncertain significance
GRCh38/hg38 10q11.22-11.23(chr10:45795500-50134000) copy number loss Pulmonary arterial hypertension [RCV004555161] Chr10:45795500..50134000 [GRCh38]
Chr10:10q11.22-11.23
likely pathogenic
NM_002900.3(RBP3):c.307C>T (p.Pro103Ser) single nucleotide variant Retinal dystrophy [RCV003889548] Chr10:47348791 [GRCh38]
Chr10:48390571 [GRCh37]
Chr10:10q11.22
uncertain significance
GRCh37/hg19 10q11.22-11.23(chr10:46975077-51089085)x3 copy number gain See cases [RCV004442779] Chr10:46975077..51089085 [GRCh37]
Chr10:10q11.22-11.23
uncertain significance
NM_002900.3(RBP3):c.2372C>T (p.Thr791Met) single nucleotide variant Retinal dystrophy [RCV003889531] Chr10:47350856 [GRCh38]
Chr10:48388506 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.1902A>C (p.Gln634His) single nucleotide variant Retinal dystrophy [RCV003889533] Chr10:47350386 [GRCh38]
Chr10:48388976 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.1245G>A (p.Leu415=) single nucleotide variant Retinal dystrophy [RCV003889542] Chr10:47349729 [GRCh38]
Chr10:48389633 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.1191T>C (p.Ser397=) single nucleotide variant Retinal dystrophy [RCV003889544] Chr10:47349675 [GRCh38]
Chr10:48389687 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.359G>T (p.Gly120Val) single nucleotide variant Retinal dystrophy [RCV003889547] Chr10:47348843 [GRCh38]
Chr10:48390519 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.240C>T (p.Ser80=) single nucleotide variant Retinal dystrophy [RCV003889549] Chr10:47348724 [GRCh38]
Chr10:48390638 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.3307G>A (p.Gly1103Ser) single nucleotide variant Retinal dystrophy [RCV003889524] Chr10:47355437 [GRCh38]
Chr10:48383925 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.2647C>G (p.Gln883Glu) single nucleotide variant Retinal dystrophy [RCV003889529] Chr10:47351131 [GRCh38]
Chr10:48388231 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.490G>A (p.Ala164Thr) single nucleotide variant Retinal dystrophy [RCV003889546] Chr10:47348974 [GRCh38]
Chr10:48390388 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.3675G>A (p.Arg1225=) single nucleotide variant Retinal dystrophy [RCV003889522] Chr10:47357388 [GRCh38]
Chr10:48381974 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.2971_2973del (p.Met991del) deletion Retinal dystrophy [RCV003889528] Chr10:47351454..47351456 [GRCh38]
Chr10:48387905..48387907 [GRCh37]
Chr10:10q11.22
likely pathogenic
NM_002900.3(RBP3):c.3709G>A (p.Val1237Met) single nucleotide variant Inborn genetic diseases [RCV004661812]|Retinal dystrophy [RCV003889521] Chr10:47357422 [GRCh38]
Chr10:48381940 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.3087C>T (p.Ile1029=) single nucleotide variant Retinal dystrophy [RCV003889525] Chr10:47353357 [GRCh38]
Chr10:48386005 [GRCh37]
Chr10:10q11.22
likely pathogenic
NM_002900.3(RBP3):c.1589G>A (p.Arg530His) single nucleotide variant Retinal dystrophy [RCV003889537] Chr10:47350073 [GRCh38]
Chr10:48389289 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.3459G>C (p.Glu1153Asp) single nucleotide variant Retinal dystrophy [RCV003889523] Chr10:47357172 [GRCh38]
Chr10:48382190 [GRCh37]
Chr10:10q11.22
likely pathogenic
NM_002900.3(RBP3):c.3085A>C (p.Ile1029Leu) single nucleotide variant Retinal dystrophy [RCV003889526] Chr10:47353355 [GRCh38]
Chr10:48386007 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.2417G>A (p.Arg806His) single nucleotide variant Retinal dystrophy [RCV003889530] Chr10:47350901 [GRCh38]
Chr10:48388461 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.1525A>G (p.Thr509Ala) single nucleotide variant Retinal dystrophy [RCV003889539] Chr10:47350009 [GRCh38]
Chr10:48389353 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.1502C>A (p.Ala501Asp) single nucleotide variant Retinal dystrophy [RCV003889540] Chr10:47349986 [GRCh38]
Chr10:48389376 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.240C>A (p.Ser80Arg) single nucleotide variant Retinal dystrophy [RCV003889550] Chr10:47348724 [GRCh38]
Chr10:48390638 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.3520G>A (p.Gly1174Ser) single nucleotide variant Inborn genetic diseases [RCV004660918] Chr10:47357233 [GRCh38]
Chr10:48382129 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.289G>C (p.Glu97Gln) single nucleotide variant Inborn genetic diseases [RCV004660919] Chr10:47348773 [GRCh38]
Chr10:48390589 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.1259C>A (p.Ala420Asp) single nucleotide variant Inborn genetic diseases [RCV004671739] Chr10:47349743 [GRCh38]
Chr10:48389619 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.1777G>C (p.Val593Leu) single nucleotide variant Inborn genetic diseases [RCV004671740] Chr10:47350261 [GRCh38]
Chr10:48389101 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.2297G>A (p.Arg766Gln) single nucleotide variant Inborn genetic diseases [RCV004660920] Chr10:47350781 [GRCh38]
Chr10:48388581 [GRCh37]
Chr10:10q11.22
likely benign
NM_002900.3(RBP3):c.1258G>T (p.Ala420Ser) single nucleotide variant Inborn genetic diseases [RCV004660916] Chr10:47349742 [GRCh38]
Chr10:48389620 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.716C>T (p.Ala239Val) single nucleotide variant RBP3-related disorder [RCV004732092] Chr10:47349200 [GRCh38]
Chr10:48390162 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.568G>C (p.Gly190Arg) single nucleotide variant Inborn genetic diseases [RCV004957672] Chr10:47349052 [GRCh38]
Chr10:48390310 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.2554G>C (p.Ala852Pro) single nucleotide variant Inborn genetic diseases [RCV004957670] Chr10:47351038 [GRCh38]
Chr10:48388324 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.3583G>A (p.Ala1195Thr) single nucleotide variant Inborn genetic diseases [RCV004957671] Chr10:47357296 [GRCh38]
Chr10:48382066 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.605G>A (p.Arg202His) single nucleotide variant Inborn genetic diseases [RCV004957673] Chr10:47349089 [GRCh38]
Chr10:48390273 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.1657G>A (p.Ala553Thr) single nucleotide variant Inborn genetic diseases [RCV004957669] Chr10:47350141 [GRCh38]
Chr10:48389221 [GRCh37]
Chr10:10q11.22
uncertain significance
NM_002900.3(RBP3):c.1468C>A (p.Pro490Thr) single nucleotide variant Inborn genetic diseases [RCV004957674] Chr10:47349952 [GRCh38]
Chr10:48389410 [GRCh37]
Chr10:10q11.22
uncertain significance
GRCh37/hg19 10q11.22-11.23(chr10:48301644-51717529)x1 copy number loss not provided [RCV004819828] Chr10:48301644..51717529 [GRCh37]
Chr10:10q11.22-11.23
uncertain significance
GRCh37/hg19 10q11.22-11.23(chr10:46287822-51821987)x3 copy number gain not provided [RCV004819558] Chr10:46287822..51821987 [GRCh37]
Chr10:10q11.22-11.23
uncertain significance
GRCh37/hg19 10q11.22-11.23(chr10:48117190-51365069)x1 copy number loss not provided [RCV004819827] Chr10:48117190..51365069 [GRCh37]
Chr10:10q11.22-11.23
uncertain significance
NM_002900.3(RBP3):c.680T>C (p.Val227Ala) single nucleotide variant not provided [RCV003149533] Chr10:47349164 [GRCh38]
Chr10:48390198 [GRCh37]
Chr10:10q11.22
uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:239
Count of miRNA genes:207
Interacting mature miRNAs:222
Transcripts:ENST00000224600
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
407038850GWAS687826_Hcorneal topography QTL GWAS687826 (human)1e-13corneal topography104735113447351135Human
597146484GWAS1242558_Hphotoreceptor cell layer thickness measurement QTL GWAS1242558 (human)8e-10photoreceptor cell layer thickness measurement104734952147349522Human
597339343GWAS1435417_Haxial length measurement QTL GWAS1435417 (human)6e-09axial length measurement104735113447351135Human
597101992GWAS1198066_Hcorneal topography QTL GWAS1198066 (human)3e-10corneal topography104735113447351135Human

Markers in Region
SGC31490  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371048,381,612 - 48,381,817UniSTSGRCh37
Build 361048,001,618 - 48,001,823RGDNCBI36
Celera1044,805,516 - 44,805,721RGD
Cytogenetic Map10q11.2UniSTS
HuRef1043,134,093 - 43,134,298UniSTS
Whitehead-RH Map10368.9UniSTS
NCBI RH Map10591.5UniSTS
RH80959  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371048,382,576 - 48,382,803UniSTSGRCh37
Build 361048,002,582 - 48,002,809RGDNCBI36
Celera1044,806,480 - 44,806,707RGD
Cytogenetic Map10q11.2UniSTS
HuRef1043,135,057 - 43,135,284UniSTS
RH11133  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371048,390,271 - 48,390,414UniSTSGRCh37
Build 361048,010,277 - 48,010,420RGDNCBI36
Celera1044,814,175 - 44,814,318RGD
Cytogenetic Map10q11.2UniSTS
HuRef1043,142,752 - 43,142,895UniSTS
GDB:177806  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371048,386,016 - 48,387,848UniSTSGRCh37
Build 361048,006,022 - 48,007,854RGDNCBI36
Celera1044,809,920 - 44,811,752RGD
Cytogenetic Map10q11.2UniSTS
HuRef1043,138,497 - 43,140,329UniSTS
RH29  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371048,381,762 - 48,381,876UniSTSGRCh37
Build 361048,001,768 - 48,001,882RGDNCBI36
Celera1044,805,666 - 44,805,780RGD
Cytogenetic Map10q11.2UniSTS
HuRef1043,134,243 - 43,134,357UniSTS
GeneMap99-GB4 RH Map10295.92UniSTS
NCBI RH Map10591.5UniSTS
RBP3__5661  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371048,381,446 - 48,382,196UniSTSGRCh37
Build 361048,001,452 - 48,002,202RGDNCBI36
Celera1044,805,350 - 44,806,100RGD
HuRef1043,133,927 - 43,134,677UniSTS


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
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
790 1395 1859 872 4390 907 1144 2 192 341 77 1813 2361 2604 3 3542 442 1255 885 122