CRX (cone-rod homeobox) - Rat Genome Database

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Gene: CRX (cone-rod homeobox) Homo sapiens
Analyze
Symbol: CRX
Name: cone-rod homeobox
RGD ID: 733182
HGNC Page HGNC:2383
Description: Enables DNA-binding transcription activator activity, RNA polymerase II-specific; RNA polymerase II cis-regulatory region sequence-specific DNA binding activity; and leucine zipper domain binding activity. Involved in positive regulation of transcription by RNA polymerase II. Predicted to be part of RNA polymerase II transcription regulator complex and chromatin. Predicted to be active in nucleus. Implicated in Leber congenital amaurosis 7 and cone-rod dystrophy 2.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: cone-rod homeobox protein; CORD2; CRD; LCA7; orthodenticle homeobox 3; OTX3
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381947,821,937 - 47,843,324 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1947,819,779 - 47,843,330 (+)EnsemblGRCh38hg38GRCh38
GRCh371948,325,194 - 48,346,581 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361953,016,911 - 53,038,393 (+)NCBINCBI36Build 36hg18NCBI36
Build 341953,016,975 - 53,038,392NCBI
Celera1945,130,795 - 45,152,290 (+)NCBICelera
Cytogenetic Map19q13.33NCBI
HuRef1944,751,798 - 44,773,295 (+)NCBIHuRef
CHM1_11948,327,266 - 48,348,759 (+)NCBICHM1_1
T2T-CHM13v2.01950,652,778 - 50,674,184 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


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

Cellular Component

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

Human Phenotype
Abnormal electroretinogram  (IAGP)
Abnormal optic disc morphology  (IAGP)
Abnormal retinal vascular morphology  (IAGP)
Abnormal testis morphology  (IAGP)
Abnormality of fundus pigmentation  (IAGP)
Abnormality of neuronal migration  (IAGP)
Abnormality of retinal pigmentation  (IAGP)
Aplasia/Hypoplasia of the cerebellar vermis  (IAGP)
Attenuation of retinal blood vessels  (IAGP)
Autosomal dominant inheritance  (IAGP)
Autosomal recessive inheritance  (IAGP)
Blindness  (IAGP)
Bone spicule pigmentation of the retina  (IAGP)
Cataract  (IAGP)
Central scotoma  (IAGP)
Chorioretinal atrophy  (IAGP)
Color vision defect  (IAGP)
Conductive hearing impairment  (IAGP)
Cone/cone-rod dystrophy  (IAGP)
Congenital blindness  (IAGP)
Constriction of peripheral visual field  (IAGP)
Encephalocele  (IAGP)
Glaucoma  (IAGP)
Global developmental delay  (IAGP)
Hearing impairment  (IAGP)
Hemiplegia/hemiparesis  (IAGP)
Hyperinsulinemia  (IAGP)
Hyperreflexia  (IAGP)
Hypogonadism  (IAGP)
Hypotonia  (IAGP)
Infantile onset  (IAGP)
Intellectual disability  (IAGP)
Keratoconus  (IAGP)
Macular dystrophy  (IAGP)
Macular hyperpigmentation  (IAGP)
Metamorphopsia  (IAGP)
Nyctalopia  (IAGP)
Nystagmus  (IAGP)
Obesity  (IAGP)
Ophthalmoplegia  (IAGP)
Optic atrophy  (IAGP)
Optic disc pallor  (IAGP)
Pendular nystagmus  (IAGP)
Peripheral visual field loss  (IAGP)
Photophobia  (IAGP)
Photopsia  (IAGP)
Posterior subcapsular cataract  (IAGP)
Progressive night blindness  (IAGP)
Prostate cancer  (IAGP)
Reduced visual acuity  (IAGP)
Retinal degeneration  (IAGP)
Retinal dystrophy  (IAGP)
Retinal pigment epithelial atrophy  (IAGP)
Rod-cone dystrophy  (IAGP)
Seizure  (IAGP)
Sensorineural hearing impairment  (IAGP)
Severely reduced visual acuity  (IAGP)
Type II diabetes mellitus  (IAGP)
Undetectable electroretinogram  (IAGP)
Visual impairment  (IAGP)
X-linked recessive inheritance  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Genes and mutations causing retinitis pigmentosa. Daiger SP, etal., Clin Genet. 2013 Aug;84(2):132-41. doi: 10.1111/cge.12203. Epub 2013 Jun 19.
2. De novo mutations in the CRX homeobox gene associated with Leber congenital amaurosis. Freund CL, etal., Nat Genet 1998 Apr;18(4):311-2.
3. Docosahexaenoic acid promotes photoreceptor differentiation without altering Crx expression. Garelli A, etal., Invest Ophthalmol Vis Sci. 2006 Jul;47(7):3017-27.
4. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
5. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
6. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
7. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
8. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:8162077   PMID:8889548   PMID:9390516   PMID:9390563   PMID:9427255   PMID:9792858   PMID:9931337   PMID:10192380   PMID:10625658   PMID:10708567   PMID:10866677   PMID:10887186  
PMID:11468275   PMID:11580893   PMID:11748859   PMID:11910559   PMID:11971869   PMID:12208271   PMID:12215455   PMID:12359607   PMID:12408971   PMID:12477932   PMID:15001570   PMID:15028672  
PMID:15143176   PMID:15489334   PMID:15531334   PMID:15689355   PMID:15781457   PMID:15932940   PMID:16189514   PMID:17286855   PMID:17320181   PMID:17347810   PMID:18653602   PMID:19274049  
PMID:19686387   PMID:19753312   PMID:19823680   PMID:19936203   PMID:20301475   PMID:20301590   PMID:20591486   PMID:20801516   PMID:21873635   PMID:21966431   PMID:22458338   PMID:22558175  
PMID:22790857   PMID:22960069   PMID:23235340   PMID:23565263   PMID:23718855   PMID:24001014   PMID:24093488   PMID:24555912   PMID:24722188   PMID:25270190   PMID:25416956   PMID:25703721  
PMID:25910212   PMID:25928893   PMID:26397460   PMID:26608863   PMID:26871637   PMID:27107012   PMID:27107014   PMID:27734943   PMID:28473536   PMID:28945142   PMID:29089355   PMID:29533784  
PMID:29568065   PMID:29892012   PMID:30067412   PMID:30078014   PMID:30095615   PMID:30285347   PMID:30460480   PMID:30926958   PMID:30945053   PMID:31215831   PMID:31515488   PMID:31626798  
PMID:31743059   PMID:32296183   PMID:32533067   PMID:33165094   PMID:34192607   PMID:34653402   PMID:36217030   PMID:38297188  


Genomics

Comparative Map Data
CRX
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381947,821,937 - 47,843,324 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1947,819,779 - 47,843,330 (+)EnsemblGRCh38hg38GRCh38
GRCh371948,325,194 - 48,346,581 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361953,016,911 - 53,038,393 (+)NCBINCBI36Build 36hg18NCBI36
Build 341953,016,975 - 53,038,392NCBI
Celera1945,130,795 - 45,152,290 (+)NCBICelera
Cytogenetic Map19q13.33NCBI
HuRef1944,751,798 - 44,773,295 (+)NCBIHuRef
CHM1_11948,327,266 - 48,348,759 (+)NCBICHM1_1
T2T-CHM13v2.01950,652,778 - 50,674,184 (+)NCBIT2T-CHM13v2.0
Crx
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39715,599,872 - 15,613,880 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl715,599,872 - 15,613,893 (-)EnsemblGRCm39 Ensembl
GRCm38715,865,947 - 15,879,955 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl715,865,947 - 15,879,968 (-)EnsemblGRCm38mm10GRCm38
MGSCv37716,451,296 - 16,465,304 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36715,024,471 - 15,038,416 (-)NCBIMGSCv36mm8
Celera713,064,380 - 13,078,683 (-)NCBICelera
Cytogenetic Map7A2NCBI
cM Map78.6NCBI
Crx
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8185,667,971 - 85,681,852 (-)NCBIGRCr8
mRatBN7.2176,539,812 - 76,553,694 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl176,540,141 - 76,545,818 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx181,908,471 - 81,914,093 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.013,654,790 - 3,660,412 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0183,663,620 - 83,669,242 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0177,744,593 - 77,758,913 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl177,745,288 - 77,750,960 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0179,009,202 - 79,023,481 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4176,190,656 - 76,196,333 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1176,268,766 - 76,274,444 (-)NCBI
Celera171,030,638 - 71,036,315 (-)NCBICelera
Cytogenetic Map1q21NCBI
Crx
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555741,544,917 - 1,548,912 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049555741,544,917 - 1,548,912 (+)NCBIChiLan1.0ChiLan1.0
CRX
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22053,983,564 - 53,999,402 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11955,853,180 - 55,869,032 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01944,828,119 - 44,856,284 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11953,451,064 - 53,485,267 (+)NCBIpanpan1.1PanPan1.1panPan2
CRX
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11108,249,911 - 108,261,015 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1108,249,911 - 108,261,010 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1107,732,789 - 107,743,823 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01108,775,575 - 108,786,695 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1108,775,575 - 108,786,690 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11108,443,942 - 108,454,986 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01108,088,397 - 108,099,501 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01108,956,307 - 108,967,430 (+)NCBIUU_Cfam_GSD_1.0
LOC101960714
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440934919,791,903 - 19,800,967 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049366641,409,229 - 1,419,234 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049366641,408,618 - 1,419,096 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CRX
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl653,506,410 - 53,512,190 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1653,506,410 - 53,509,858 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2649,089,411 - 49,092,899 (+)NCBISscrofa10.2Sscrofa10.2susScr3
CRX
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1641,125,912 - 41,133,478 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl641,126,125 - 41,132,951 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366607320,889,919 - 20,895,927 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Crx
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248326,104,229 - 6,108,146 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248326,103,530 - 6,108,129 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in CRX
367 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000554.6(CRX):c.502del (p.Glu168fs) deletion Cone-rod dystrophy 2 [RCV000007842] Chr19:47839569 [GRCh38]
Chr19:48342826 [GRCh37]
Chr19:19q13.33
pathogenic
CRX, 2-BP DEL, GLU168 deletion Leber congenital amaurosis 7 [RCV000007844] Chr19:19q13.3 pathogenic
CRX, 1-BP DEL, GLY217 deletion Leber congenital amaurosis 7 [RCV000007845] Chr19:19q13.3 pathogenic
CRX, 1-BP DEL, 520G deletion Leber congenital amaurosis 7 [RCV000007848] Chr19:19q13.3 pathogenic
CRX, 1-BP DEL, 615C deletion Cone-rod dystrophy 2 [RCV000007849] Chr19:19q13.3 pathogenic
NM_000554.6(CRX):c.816_818delinsAA (p.Thr273fs) indel Cone-rod dystrophy 2 [RCV000007850] Chr19:47839883..47839885 [GRCh38]
Chr19:48343140..48343142 [GRCh37]
Chr19:19q13.33
pathogenic
NM_000554.6(CRX):c.193G>C (p.Asp65His) single nucleotide variant Retinitis pigmentosa [RCV000132604] Chr19:47836335 [GRCh38]
Chr19:48339592 [GRCh37]
Chr19:19q13.33
pathogenic
NM_000554.6(CRX):c.897G>C (p.Leu299Phe) single nucleotide variant Retinitis pigmentosa [RCV000132605] Chr19:47839964 [GRCh38]
Chr19:48343221 [GRCh37]
Chr19:19q13.33
likely pathogenic
NM_000554.6(CRX):c.733T>C (p.Ser245Pro) single nucleotide variant not provided [RCV000521258] Chr19:47839800 [GRCh38]
Chr19:48343057 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_000554.6(CRX):c.239A>C (p.Glu80Ala) single nucleotide variant Cone-rod dystrophy 2 [RCV000007841]|Leber congenital amaurosis 7 [RCV001386170]|not provided [RCV000085995] Chr19:47836381 [GRCh38]
Chr19:48339638 [GRCh37]
Chr19:19q13.33
pathogenic|not provided
NM_000554.6(CRX):c.121C>T (p.Arg41Trp) single nucleotide variant Cone-rod dystrophy 2 [RCV000007843]|Cone-rod dystrophy [RCV003324484]|Leber congenital amaurosis 7 [RCV001386169]|Retinal dystrophy [RCV001073396]|Retinitis pigmentosa [RCV003324485]|not provided [RCV000085989] Chr19:47836263 [GRCh38]
Chr19:48339520 [GRCh37]
Chr19:19q13.33
pathogenic|likely pathogenic|not provided
NM_000554.6(CRX):c.122G>A (p.Arg41Gln) single nucleotide variant Cone-rod dystrophy 2 [RCV000007846]|Leber congenital amaurosis 7 [RCV001059718]|Retinal dystrophy [RCV001075469]|not provided [RCV000085990] Chr19:47836264 [GRCh38]
Chr19:48339521 [GRCh37]
Chr19:19q13.33
pathogenic|likely pathogenic|not provided
NM_000554.6(CRX):c.268C>T (p.Arg90Trp) single nucleotide variant Leber congenital amaurosis 7 [RCV000007847]|Leber congenital amaurosis 7 [RCV001244346]|Retinal dystrophy [RCV001074643]|not provided [RCV000086364] Chr19:47839335 [GRCh38]
Chr19:48342592 [GRCh37]
Chr19:19q13.33
pathogenic|likely pathogenic|uncertain significance|not provided
GRCh38/hg38 19q13.32-13.33(chr19:46658791-49050450)x3 copy number gain See cases [RCV000052913] Chr19:46658791..49050450 [GRCh38]
Chr19:47162048..49553707 [GRCh37]
Chr19:51853888..54245519 [NCBI36]
Chr19:19q13.32-13.33
pathogenic
NM_000554.6(CRX):c.529del (p.Ala177fs) deletion Leber congenital amaurosis 7 [RCV000055824]|Leber congenital amaurosis 7 [RCV002515745]|not provided [RCV000086008] Chr19:47839594 [GRCh38]
Chr19:48342851 [GRCh37]
Chr19:19q13.33
pathogenic|uncertain significance|not provided
NM_000554.6(CRX):c.100+12C>T single nucleotide variant Cone-rod dystrophy 2 [RCV000302511]|Leber congenital amaurosis 7 [RCV000359553]|Leber congenital amaurosis 7 [RCV001522153]|Retinitis pigmentosa [RCV000271922]|not provided [RCV000085985]|not specified [RCV000248132] Chr19:47834555 [GRCh38]
Chr19:48337812 [GRCh37]
Chr19:19q13.33
benign|not provided
NM_000554.6(CRX):c.100+2T>C single nucleotide variant not provided [RCV000085986] Chr19:47834545 [GRCh38]
Chr19:48337802 [GRCh37]
Chr19:19q13.33
likely pathogenic|not provided
NM_000554.6(CRX):c.101-13C>G single nucleotide variant not provided [RCV000085987] Chr19:47836230 [GRCh38]
Chr19:48339487 [GRCh37]
Chr19:19q13.33
not provided
NM_000554.6(CRX):c.101-65A>T single nucleotide variant not provided [RCV000085988] Chr19:47836178 [GRCh38]
Chr19:48339435 [GRCh37]
Chr19:19q13.33
not provided
NM_000554.6(CRX):c.166G>A (p.Ala56Thr) single nucleotide variant Leber congenital amaurosis 7 [RCV001369855]|not provided [RCV000085991] Chr19:47836308 [GRCh38]
Chr19:48339565 [GRCh37]
Chr19:19q13.33
likely pathogenic|uncertain significance|not provided
NM_000554.6(CRX):c.196G>A (p.Val66Ile) single nucleotide variant Cone-rod dystrophy 2 [RCV001135902]|Leber congenital amaurosis 1 [RCV000990234]|Leber congenital amaurosis 7 [RCV000331407]|Leber congenital amaurosis 7 [RCV001087305]|Retinitis pigmentosa [RCV001128897]|not provided [RCV000085992]|not specified [RCV000297047] Chr19:47836338 [GRCh38]
Chr19:48339595 [GRCh37]
Chr19:19q13.33
benign|likely benign|not provided
NM_000554.6(CRX):c.24dup (p.Pro9fs) duplication Retinal dystrophy [RCV001073568]|not provided [RCV000085993] Chr19:47834463..47834464 [GRCh38]
Chr19:48337720..48337721 [GRCh37]
Chr19:19q13.33
likely pathogenic|not provided
NM_000554.6(CRX):c.238G>A (p.Glu80Lys) single nucleotide variant Leber congenital amaurosis 7 [RCV001854500]|maculopathy [RCV001003002]|not provided [RCV000085994] Chr19:47836380 [GRCh38]
Chr19:48339637 [GRCh37]
Chr19:19q13.33
pathogenic|likely pathogenic|uncertain significance|not provided
NM_000554.6(CRX):c.253-15G>A single nucleotide variant Cone-rod dystrophy 2 [RCV000374438]|Leber congenital amaurosis 7 [RCV000335244]|Leber congenital amaurosis 7 [RCV001512740]|Retinitis pigmentosa [RCV000282603]|not provided [RCV000085996] Chr19:47839305 [GRCh38]
Chr19:48342562 [GRCh37]
Chr19:19q13.33
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000554.6(CRX):c.253-18T>A single nucleotide variant not provided [RCV000085997] Chr19:47839302 [GRCh38]
Chr19:48342559 [GRCh37]
Chr19:19q13.33
not provided
NM_000554.6(CRX):c.335C>T (p.Ala112Val) single nucleotide variant Leber congenital amaurosis 7 [RCV001857421]|not provided [RCV000085998] Chr19:47839402 [GRCh38]
Chr19:48342659 [GRCh37]
Chr19:19q13.33
uncertain significance|not provided
NM_000554.6(CRX):c.351dup (p.Lys118fs) duplication not provided [RCV000085999] Chr19:47839416..47839417 [GRCh38]
Chr19:48342673..48342674 [GRCh37]
Chr19:19q13.33
not provided
NM_000554.6(CRX):c.365G>A (p.Gly122Asp) single nucleotide variant Central core myopathy [RCV001258249]|Cone-rod dystrophy 2 [RCV000286039]|Leber congenital amaurosis 7 [RCV000339186]|Leber congenital amaurosis 7 [RCV001082272]|Retinitis pigmentosa [RCV000373510]|not provided [RCV000086000]|not specified [RCV000153123] Chr19:47839432 [GRCh38]
Chr19:48342689 [GRCh37]
Chr19:19q13.33
benign|likely benign|conflicting interpretations of pathogenicity|not provided
NM_000554.6(CRX):c.425A>G (p.Tyr142Cys) single nucleotide variant Autosomal dominant retinitis pigmentosa [RCV001257854]|Cone-rod dystrophy 2 [RCV001131568]|Leber congenital amaurosis 1 [RCV000990235]|Leber congenital amaurosis 7 [RCV001089193]|Leber congenital amaurosis 7 [RCV001131569]|Retinitis pigmentosa [RCV000787829]|not provided [RCV000086001] Chr19:47839492 [GRCh38]
Chr19:48342749 [GRCh37]
Chr19:19q13.33
pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000554.6(CRX):c.436_447del (p.Leu146_Pro149del) deletion not provided [RCV000086002] Chr19:47839503..47839514 [GRCh38]
Chr19:48342760..48342771 [GRCh37]
Chr19:19q13.33
not provided
NM_000554.6(CRX):c.447dup (p.Ser150fs) duplication Leber congenital amaurosis 7 [RCV001247677]|not provided [RCV000086003] Chr19:47839510..47839511 [GRCh38]
Chr19:48342767..48342768 [GRCh37]
Chr19:19q13.33
pathogenic|not provided
NM_000554.6(CRX):c.472G>A (p.Ala158Thr) single nucleotide variant Cone-rod dystrophy 2 [RCV000347317]|Leber congenital amaurosis 7 [RCV000390414]|Leber congenital amaurosis 7 [RCV001081848]|Retinitis pigmentosa [RCV000308806]|Retinitis pigmentosa [RCV002498461]|not provided [RCV000086004]|not specified [RCV000178122] Chr19:47839539 [GRCh38]
Chr19:48342796 [GRCh37]
Chr19:19q13.33
benign|likely benign|not provided
NM_000554.6(CRX):c.503_504del (p.Glu168fs) microsatellite Leber congenital amaurosis 7 [RCV002274927]|not provided [RCV000086005] Chr19:47839568..47839569 [GRCh38]
Chr19:48342825..48342826 [GRCh37]
Chr19:19q13.33
pathogenic|not provided
NM_000554.6(CRX):c.505del (p.Ser169fs) deletion not provided [RCV000086006] Chr19:47839572 [GRCh38]
Chr19:48342829 [GRCh37]
Chr19:19q13.33
not provided
NM_000554.6(CRX):c.520del (p.Ala174fs) deletion Leber congenital amaurosis 7 [RCV000007848]|not provided [RCV000086007] Chr19:47839586 [GRCh38]
Chr19:48342843 [GRCh37]
Chr19:19q13.33
pathogenic|not provided
NM_000554.6(CRX):c.541del (p.Ala181fs) deletion not provided [RCV000086009] Chr19:47839607 [GRCh38]
Chr19:48342864 [GRCh37]
Chr19:19q13.33
not provided
NM_000554.6(CRX):c.549G>A (p.Gly183=) single nucleotide variant Cone-rod dystrophy 2 [RCV001132602]|Leber congenital amaurosis 7 [RCV001132603]|Leber congenital amaurosis 7 [RCV001474134]|Retinitis pigmentosa [RCV001132601]|not provided [RCV000086010] Chr19:47839616 [GRCh38]
Chr19:48342873 [GRCh37]
Chr19:19q13.33
likely benign|uncertain significance|not provided
NM_000554.6(CRX):c.571del (p.Tyr191fs) deletion Leber congenital amaurosis 7 [RCV001857422]|not provided [RCV000086011] Chr19:47839638 [GRCh38]
Chr19:48342895 [GRCh37]
Chr19:19q13.33
pathogenic|not provided
NM_000554.6(CRX):c.585dup (p.Ala196fs) duplication not provided [RCV000086012] Chr19:47839651..47839652 [GRCh38]
Chr19:48342908..48342909 [GRCh37]
Chr19:19q13.33
not provided
NM_000554.6(CRX):c.587_590del (p.Ala196fs) deletion not provided [RCV000086013] Chr19:47839654..47839657 [GRCh38]
Chr19:48342911..48342914 [GRCh37]
Chr19:19q13.33
not provided
NM_000554.6(CRX):c.597C>T (p.Ser199=) single nucleotide variant Cone-rod dystrophy 2 [RCV000277021]|Leber congenital amaurosis 7 [RCV000311321]|Leber congenital amaurosis 7 [RCV001080501]|Retinitis pigmentosa [RCV000368298]|not provided [RCV000086014] Chr19:47839664 [GRCh38]
Chr19:48342921 [GRCh37]
Chr19:19q13.33
likely benign|uncertain significance|not provided
NM_000554.6(CRX):c.615del (p.Ser206fs) deletion Cone-rod dystrophy 2 [RCV000007849]|Leber congenital amaurosis 7 [RCV001854501]|not provided [RCV000086015] Chr19:47839678 [GRCh38]
Chr19:48342935 [GRCh37]
Chr19:19q13.33
pathogenic|uncertain significance|not provided
NM_000554.6(CRX):c.650del (p.Gly217fs) deletion Leber congenital amaurosis 7 [RCV002274928]|not provided [RCV000086016] Chr19:47839716 [GRCh38]
Chr19:48342973 [GRCh37]
Chr19:19q13.33
pathogenic|not provided
NM_000554.6(CRX):c.709del (p.Leu237fs) deletion not provided [RCV000086017] Chr19:47839772 [GRCh38]
Chr19:48343029 [GRCh37]
Chr19:19q13.33
not provided
NM_000554.6(CRX):c.724G>A (p.Val242Met) single nucleotide variant Leber congenital amaurosis 1 [RCV000990238]|Leber congenital amaurosis 7 [RCV001081597]|Retinitis pigmentosa [RCV002505020]|not provided [RCV000086018]|not specified [RCV000597336] Chr19:47839791 [GRCh38]
Chr19:48343048 [GRCh37]
Chr19:19q13.33
benign|likely benign|not provided
NM_000554.6(CRX):c.753del (p.Ser252fs) deletion Leber congenital amaurosis 7 [RCV001307244]|not provided [RCV000086019] Chr19:47839819 [GRCh38]
Chr19:48343076 [GRCh37]
Chr19:19q13.33
uncertain significance|not provided
NM_000554.6(CRX):c.789del (p.Val264fs) deletion not provided [RCV000086020] Chr19:47839853 [GRCh38]
Chr19:48343110 [GRCh37]
Chr19:19q13.33
not provided
NM_000554.6(CRX):c.818C>T (p.Thr273Met) single nucleotide variant Leber congenital amaurosis 7 [RCV001241022]|not provided [RCV000086021] Chr19:47839885 [GRCh38]
Chr19:48343142 [GRCh37]
Chr19:19q13.33
uncertain significance|not provided
NM_000554.6(CRX):c.695del (p.Pro232fs) deletion Autosomal dominant retinitis pigmentosa [RCV001257855]|Leber congenital amaurosis 7 [RCV001250589]|not provided [RCV000171490] Chr19:47839760 [GRCh38]
Chr19:48343017 [GRCh37]
Chr19:19q13.33
pathogenic|likely pathogenic
NM_000554.6(CRX):c.274G>A (p.Ala92Thr) single nucleotide variant Autosomal dominant retinitis pigmentosa [RCV001257853]|Leber congenital amaurosis 7 [RCV001342675]|not provided [RCV000171286] Chr19:47839341 [GRCh38]
Chr19:48342598 [GRCh37]
Chr19:19q13.33
pathogenic|likely pathogenic|uncertain significance
NM_000554.6(CRX):c.107C>A (p.Pro36His) single nucleotide variant Malignant tumor of prostate [RCV000149004] Chr19:47836249 [GRCh38]
Chr19:48339506 [GRCh37]
Chr19:19q13.33
uncertain significance
GRCh38/hg38 19q13.32-13.33(chr19:44971420-48257402)x3 copy number gain See cases [RCV000136578] Chr19:44971420..48257402 [GRCh38]
Chr19:45474677..48760659 [GRCh37]
Chr19:50166517..53452471 [NCBI36]
Chr19:19q13.32-13.33
pathogenic
GRCh38/hg38 19q13.33(chr19:47832818-47902680)x3 copy number gain See cases [RCV000137521] Chr19:47832818..47902680 [GRCh38]
Chr19:48336075..48405937 [GRCh37]
Chr19:53027887..53097749 [NCBI36]
Chr19:19q13.33
uncertain significance
NM_000554.6(CRX):c.101-3del deletion Leber congenital amaurosis 7 [RCV001522927]|not provided [RCV000153122] Chr19:47836237 [GRCh38]
Chr19:48339494 [GRCh37]
Chr19:19q13.33
benign|uncertain significance
NM_000554.6(CRX):c.124G>A (p.Glu42Lys) single nucleotide variant Leber congenital amaurosis 7 [RCV000197997]|Leber congenital amaurosis 7 [RCV002517299]|Retinal dystrophy [RCV001075515] Chr19:47836266 [GRCh38]
Chr19:48339523 [GRCh37]
Chr19:19q13.33
pathogenic|likely pathogenic
NM_000554.6(CRX):c.435del (p.Leu146fs) deletion Leber congenital amaurosis 7 [RCV001228949] Chr19:47839502 [GRCh38]
Chr19:48342759 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_000554.6(CRX):c.449C>G (p.Ser150Ter) single nucleotide variant Benign concentric annular macular dystrophy [RCV000203264]|Leber congenital amaurosis 7 [RCV001208760] Chr19:47839516 [GRCh38]
Chr19:48342773 [GRCh37]
Chr19:19q13.33
pathogenic
NM_000554.6(CRX):c.660del (p.Tyr221fs) deletion Benign concentric annular macular dystrophy [RCV000203269]|Leber congenital amaurosis 7 [RCV002517362] Chr19:47839724 [GRCh38]
Chr19:48342981 [GRCh37]
Chr19:19q13.33
pathogenic|uncertain significance
NM_000554.6(CRX):c.661del (p.Tyr221fs) deletion Benign concentric annular macular dystrophy [RCV000203272]|Leber congenital amaurosis 7 [RCV001361118] Chr19:47839728 [GRCh38]
Chr19:48342985 [GRCh37]
Chr19:19q13.33
pathogenic|uncertain significance
NM_000554.6(CRX):c.-29T>A single nucleotide variant not provided [RCV000755995] Chr19:47834415 [GRCh38]
Chr19:48337672 [GRCh37]
Chr19:19q13.33
likely benign
NM_000554.6(CRX):c.648del (p.Ser216fs) deletion Leber congenital amaurosis [RCV000210309] Chr19:47839715 [GRCh38]
Chr19:48342972 [GRCh37]
Chr19:19q13.33
likely pathogenic
NM_000554.6(CRX):c.100+1G>C single nucleotide variant Retinal dystrophy [RCV000225389] Chr19:47834544 [GRCh38]
Chr19:48337801 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_000554.6(CRX):c.605del (p.Cys202fs) deletion Leber congenital amaurosis 7 [RCV001036303]|Retinal dystrophy [RCV000225573] Chr19:47839672 [GRCh38]
Chr19:48342929 [GRCh37]
Chr19:19q13.33
likely pathogenic|uncertain significance
NM_000554.6(CRX):c.269G>A (p.Arg90Gln) single nucleotide variant Leber congenital amaurosis 7 [RCV001853674]|not provided [RCV000520899] Chr19:47839336 [GRCh38]
Chr19:48342593 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_000554.6(CRX):c.663C>A (p.Tyr221Ter) single nucleotide variant Leber congenital amaurosis 7 [RCV001865500]|Retinal dystrophy [RCV001073867]|not provided [RCV000487650] Chr19:47839730 [GRCh38]
Chr19:48342987 [GRCh37]
Chr19:19q13.33
likely pathogenic
GRCh37/hg19 19q13.33(chr19:48345470-48575975)x3 copy number gain See cases [RCV000240458] Chr19:48345470..48575975 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_000554.6(CRX):c.*2539C>T single nucleotide variant Cone-rod dystrophy 2 [RCV000337066]|Leber congenital amaurosis 7 [RCV000282067]|Retinitis pigmentosa [RCV000395396] Chr19:47842506 [GRCh38]
Chr19:48345763 [GRCh37]
Chr19:19q13.33
benign|likely benign|uncertain significance
NM_000554.6(CRX):c.*591G>C single nucleotide variant Cone-rod dystrophy 2 [RCV000281948]|Leber congenital amaurosis 7 [RCV000371731]|Retinitis pigmentosa [RCV000337104] Chr19:47840558 [GRCh38]
Chr19:48343815 [GRCh37]
Chr19:19q13.33
benign
NM_000554.6(CRX):c.*1961G>A single nucleotide variant Cone-rod dystrophy 2 [RCV000397748]|Leber congenital amaurosis 7 [RCV000300503]|Retinitis pigmentosa [RCV000335807] Chr19:47841928 [GRCh38]
Chr19:48345185 [GRCh37]
Chr19:19q13.33
benign|likely benign
NM_000554.6(CRX):c.*754_*756dup duplication Cone-Rod Dystrophy, Dominant [RCV000320472]|Leber congenital amaurosis [RCV000265418]|Retinitis Pigmentosa, Dominant [RCV000379694] Chr19:47840703..47840704 [GRCh38]
Chr19:48343960..48343961 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_000554.6(CRX):c.*2704C>T single nucleotide variant Cone-rod dystrophy 2 [RCV000265375]|Leber congenital amaurosis 7 [RCV000323965]|Retinitis pigmentosa [RCV000378501] Chr19:47842671 [GRCh38]
Chr19:48345928 [GRCh37]
Chr19:19q13.33
benign
NM_000554.6(CRX):c.*595C>T single nucleotide variant Cone-rod dystrophy 2 [RCV000283255]|Leber congenital amaurosis 7 [RCV000342965]|Retinitis pigmentosa [RCV000377666] Chr19:47840562 [GRCh38]
Chr19:48343819 [GRCh37]
Chr19:19q13.33
benign|likely benign|uncertain significance
NM_000554.6(CRX):c.*3017C>T single nucleotide variant Cone-rod dystrophy 2 [RCV000357027]|Leber congenital amaurosis 7 [RCV000302277]|Retinitis pigmentosa [RCV000396071] Chr19:47842984 [GRCh38]
Chr19:48346241 [GRCh37]
Chr19:19q13.33
benign
NM_000554.5(CRX):c.-116T>C single nucleotide variant Cone-Rod Dystrophy, Dominant [RCV000265804]|Leber congenital amaurosis [RCV000327978]|Retinitis Pigmentosa, Dominant [RCV000384844] Chr19:47821930 [GRCh38]
Chr19:48325187 [GRCh37]
Chr19:19q13.33
benign
NM_000554.6(CRX):c.*1346G>A single nucleotide variant Cone-rod dystrophy 2 [RCV000266270]|Leber congenital amaurosis 7 [RCV000380361]|Retinitis pigmentosa [RCV000323506] Chr19:47841313 [GRCh38]
Chr19:48344570 [GRCh37]
Chr19:19q13.33
benign
NM_000554.6(CRX):c.*2485C>T single nucleotide variant Cone-rod dystrophy 2 [RCV000285817]|Leber congenital amaurosis 7 [RCV000340688]|Retinitis pigmentosa [RCV000395379] Chr19:47842452 [GRCh38]
Chr19:48345709 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_000554.6(CRX):c.*401A>C single nucleotide variant Cone-rod dystrophy 2 [RCV000338808]|Leber congenital amaurosis 7 [RCV000303694]|Retinitis pigmentosa [RCV000399605] Chr19:47840368 [GRCh38]
Chr19:48343625 [GRCh37]
Chr19:19q13.33
benign
NM_000554.6(CRX):c.*436G>T single nucleotide variant Cone-rod dystrophy 2 [RCV000363398]|Leber congenital amaurosis 7 [RCV000328670]|Retinitis pigmentosa [RCV000268883] Chr19:47840403 [GRCh38]
Chr19:48343660 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_000554.6(CRX):c.*19C>T single nucleotide variant Cone-rod dystrophy 2 [RCV000399088]|Leber congenital amaurosis 7 [RCV000287905]|Retinitis pigmentosa [RCV000347496] Chr19:47839986 [GRCh38]
Chr19:48343243 [GRCh37]
Chr19:19q13.33
benign|likely benign
NM_000554.6(CRX):c.*1455T>A single nucleotide variant Cone-rod dystrophy 2 [RCV000288387]|Leber congenital amaurosis 7 [RCV000383157]|Retinitis pigmentosa [RCV000345755] Chr19:47841422 [GRCh38]
Chr19:48344679 [GRCh37]
Chr19:19q13.33
benign
NM_000554.6(CRX):c.*1792C>T single nucleotide variant Cone-rod dystrophy 2 [RCV000381303]|Leber congenital amaurosis 7 [RCV000270467]|Retinitis pigmentosa [RCV000324431] Chr19:47841759 [GRCh38]
Chr19:48345016 [GRCh37]
Chr19:19q13.33
benign|likely benign
NM_000554.6(CRX):c.101-12A>G single nucleotide variant Cone-rod dystrophy 2 [RCV000270983]|Leber congenital amaurosis 7 [RCV000363225]|Leber congenital amaurosis 7 [RCV001519268]|Retinitis pigmentosa [RCV000310833]|not provided [RCV001712052] Chr19:47836231 [GRCh38]
Chr19:48339488 [GRCh37]
Chr19:19q13.33
benign|likely benign
NM_000554.6(CRX):c.*996C>G single nucleotide variant Cone-rod dystrophy 2 [RCV000328839]|Leber congenital amaurosis 7 [RCV000271568]|Retinitis pigmentosa [RCV000363813] Chr19:47840963 [GRCh38]
Chr19:48344220 [GRCh37]
Chr19:19q13.33
benign|likely benign|uncertain significance
NM_000554.6(CRX):c.*3285C>G single nucleotide variant Cone-rod dystrophy 2 [RCV000381913]|Leber congenital amaurosis 7 [RCV000272632]|Retinitis pigmentosa [RCV000327753] Chr19:47843252 [GRCh38]
Chr19:48346509 [GRCh37]
Chr19:19q13.33
benign|likely benign
NM_000554.6(CRX):c.*308AAG[2] microsatellite Cone-Rod Dystrophy, Dominant [RCV000290830]|Leber congenital amaurosis [RCV000385027]|Retinitis Pigmentosa, Dominant [RCV000325778]|not provided [RCV001672556] Chr19:47840275..47840277 [GRCh38]
Chr19:48343532..48343534 [GRCh37]
Chr19:19q13.33
benign
NM_000554.6(CRX):c.*1046C>T single nucleotide variant Cone-rod dystrophy 2 [RCV000367238]|Leber congenital amaurosis 7 [RCV000332209]|Retinitis pigmentosa [RCV000274819] Chr19:47841013 [GRCh38]
Chr19:48344270 [GRCh37]
Chr19:19q13.33
benign|likely benign
NM_000554.6(CRX):c.*860C>T single nucleotide variant Cone-rod dystrophy 2 [RCV000383228]|Leber congenital amaurosis 7 [RCV000328577]|Retinitis pigmentosa [RCV000293311] Chr19:47840827 [GRCh38]
Chr19:48344084 [GRCh37]
Chr19:19q13.33
benign|likely benign
NM_000554.6(CRX):c.*2880T>C single nucleotide variant Cone-rod dystrophy 2 [RCV000333201]|Leber congenital amaurosis 7 [RCV000259323]|Retinitis pigmentosa [RCV000372681]|not provided [RCV003422307] Chr19:47842847 [GRCh38]
Chr19:48346104 [GRCh37]
Chr19:19q13.33
benign|likely benign|uncertain significance
NM_000554.6(CRX):c.*3279C>T single nucleotide variant Cone-rod dystrophy 2 [RCV000276002]|Leber congenital amaurosis 7 [RCV000367274]|Retinitis pigmentosa [RCV000331297] Chr19:47843246 [GRCh38]
Chr19:48346503 [GRCh37]
Chr19:19q13.33
benign
NM_000554.6(CRX):c.*579T>C single nucleotide variant Cone-rod dystrophy 2 [RCV000294852]|Leber congenital amaurosis 7 [RCV000388979]|Retinitis pigmentosa [RCV000317184] Chr19:47840546 [GRCh38]
Chr19:48343803 [GRCh37]
Chr19:19q13.33
benign
NM_000554.6(CRX):c.*907C>T single nucleotide variant Cone-rod dystrophy 2 [RCV000389055]|Leber congenital amaurosis 7 [RCV000294665]|Retinitis pigmentosa [RCV000329861] Chr19:47840874 [GRCh38]
Chr19:48344131 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_000554.6(CRX):c.*2739G>A single nucleotide variant Cone-rod dystrophy 2 [RCV000295144]|Leber congenital amaurosis 7 [RCV000335037]|Retinitis pigmentosa [RCV000389522] Chr19:47842706 [GRCh38]
Chr19:48345963 [GRCh37]
Chr19:19q13.33
benign|likely benign|uncertain significance
NM_000554.6(CRX):c.*1063C>T single nucleotide variant Cone-rod dystrophy 2 [RCV000316933]|Leber congenital amaurosis 7 [RCV000278440]|Retinitis pigmentosa [RCV000389210] Chr19:47841030 [GRCh38]
Chr19:48344287 [GRCh37]
Chr19:19q13.33
benign|likely benign
NM_000554.6(CRX):c.*1917G>A single nucleotide variant Cone-rod dystrophy 2 [RCV000278381]|Leber congenital amaurosis 7 [RCV000351076]|Retinitis pigmentosa [RCV000389164] Chr19:47841884 [GRCh38]
Chr19:48345141 [GRCh37]
Chr19:19q13.33
benign|likely benign|uncertain significance
NM_000554.6(CRX):c.-39G>C single nucleotide variant Cone-rod dystrophy 2 [RCV000295894]|Leber congenital amaurosis 7 [RCV000348513]|Retinitis pigmentosa [RCV000398101] Chr19:47822007 [GRCh38]
Chr19:48325264 [GRCh37]
Chr19:19q13.33
benign|likely benign
NM_000554.6(CRX):c.*1671G>A single nucleotide variant Cone-rod dystrophy 2 [RCV000355561]|Leber congenital amaurosis 7 [RCV000263094]|Retinitis pigmentosa [RCV000298249] Chr19:47841638 [GRCh38]
Chr19:48344895 [GRCh37]
Chr19:19q13.33
benign|likely benign
NM_000554.6(CRX):c.*2717G>T single nucleotide variant Cone-rod dystrophy 2 [RCV000280021]|Leber congenital amaurosis 7 [RCV000320515]|Retinitis pigmentosa [RCV000374618] Chr19:47842684 [GRCh38]
Chr19:48345941 [GRCh37]
Chr19:19q13.33
benign
NM_000554.6(CRX):c.*769G>A single nucleotide variant Cone-rod dystrophy 2 [RCV000263767]|Leber congenital amaurosis 7 [RCV000353978]|Retinitis pigmentosa [RCV000299184] Chr19:47840736 [GRCh38]
Chr19:48343993 [GRCh37]
Chr19:19q13.33
benign
NM_000554.6(CRX):c.28C>G (p.His10Asp) single nucleotide variant Cone-rod dystrophy 2 [RCV000280624]|Leber congenital amaurosis 7 [RCV000401704]|Leber congenital amaurosis 7 [RCV001087610]|Retinitis pigmentosa [RCV000787830]|not provided [RCV000878021] Chr19:47834471 [GRCh38]
Chr19:48337728 [GRCh37]
Chr19:19q13.33
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000554.6(CRX):c.*756dup duplication Cone-Rod Dystrophy, Dominant [RCV000319291]|Leber congenital amaurosis [RCV000259394]|Retinitis Pigmentosa, Dominant [RCV000373984] Chr19:47840703..47840704 [GRCh38]
Chr19:48343960..48343961 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_000554.6(CRX):c.*2183T>C single nucleotide variant Cone-rod dystrophy 2 [RCV000366857]|Leber congenital amaurosis 7 [RCV000396142]|Retinitis pigmentosa [RCV000309617] Chr19:47842150 [GRCh38]
Chr19:48345407 [GRCh37]
Chr19:19q13.33
benign
NM_000554.6(CRX):c.*2758C>A single nucleotide variant Cone-rod dystrophy 2 [RCV000394054]|Leber congenital amaurosis 7 [RCV000350125]|Retinitis pigmentosa [RCV000310418] Chr19:47842725 [GRCh38]
Chr19:48345982 [GRCh37]
Chr19:19q13.33
benign|likely benign
NM_000554.6(CRX):c.*252C>T single nucleotide variant Cone-rod dystrophy 2 [RCV000270846]|Leber congenital amaurosis 7 [RCV000360805]|Retinitis pigmentosa [RCV000320402] Chr19:47840219 [GRCh38]
Chr19:48343476 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_000554.6(CRX):c.*908G>A single nucleotide variant Cone-rod dystrophy 2 [RCV000335632]|Leber congenital amaurosis 7 [RCV000397653]|Retinitis pigmentosa [RCV000281884] Chr19:47840875 [GRCh38]
Chr19:48344132 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_000554.6(CRX):c.*2106C>T single nucleotide variant Cone-rod dystrophy 2 [RCV000273084]|Leber congenital amaurosis 7 [RCV000330531]|Retinitis pigmentosa [RCV000364650] Chr19:47842073 [GRCh38]
Chr19:48345330 [GRCh37]
Chr19:19q13.33
benign
NM_000554.6(CRX):c.*527C>T single nucleotide variant Cone-rod dystrophy 2 [RCV000329783]|Leber congenital amaurosis 7 [RCV000274724]|Retinitis pigmentosa [RCV000364444] Chr19:47840494 [GRCh38]
Chr19:48343751 [GRCh37]
Chr19:19q13.33
benign|likely benign
NM_000554.6(CRX):c.*682C>T single nucleotide variant Cone-rod dystrophy 2 [RCV000398573]|Leber congenital amaurosis 7 [RCV000312437]|Retinitis pigmentosa [RCV000367168] Chr19:47840649 [GRCh38]
Chr19:48343906 [GRCh37]
Chr19:19q13.33
benign
NM_000554.6(CRX):c.*767G>A single nucleotide variant Cone-rod dystrophy 2 [RCV000390415]|Leber congenital amaurosis 7 [RCV000352814]|Retinitis pigmentosa [RCV000311981] Chr19:47840734 [GRCh38]
Chr19:48343991 [GRCh37]
Chr19:19q13.33
benign|likely benign|uncertain significance
NM_000554.6(CRX):c.*2299C>T single nucleotide variant Cone-rod dystrophy 2 [RCV000313261]|Leber congenital amaurosis 7 [RCV000370276]|Retinitis pigmentosa [RCV000398419] Chr19:47842266 [GRCh38]
Chr19:48345523 [GRCh37]
Chr19:19q13.33
benign|likely benign
NM_000554.6(CRX):c.618C>T (p.Ser206=) single nucleotide variant Leber congenital amaurosis 7 [RCV000954354]|not specified [RCV000341530] Chr19:47839685 [GRCh38]
Chr19:48342942 [GRCh37]
Chr19:19q13.33
benign|likely benign
NM_000554.6(CRX):c.*2573C>T single nucleotide variant Cone-rod dystrophy 2 [RCV000367217]|Leber congenital amaurosis 7 [RCV000272269]|Retinitis pigmentosa [RCV000312576] Chr19:47842540 [GRCh38]
Chr19:48345797 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_000554.6(CRX):c.*2113A>G single nucleotide variant Cone-rod dystrophy 2 [RCV000276431]|Leber congenital amaurosis 7 [RCV000368889]|Retinitis pigmentosa [RCV000333843] Chr19:47842080 [GRCh38]
Chr19:48345337 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_000554.6(CRX):c.*683G>A single nucleotide variant Cone-rod dystrophy 2 [RCV000277286]|Leber congenital amaurosis 7 [RCV000313603]|Retinitis pigmentosa [RCV000354250] Chr19:47840650 [GRCh38]
Chr19:48343907 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_000554.6(CRX):c.*1289G>A single nucleotide variant Cone-rod dystrophy 2 [RCV000354639]|Leber congenital amaurosis 7 [RCV000297489]|Retinitis pigmentosa [RCV000277515] Chr19:47841256 [GRCh38]
Chr19:48344513 [GRCh37]
Chr19:19q13.33
benign|likely benign
NM_000554.6(CRX):c.*1621_*1623dup duplication Cone-Rod Dystrophy, Dominant [RCV000348287]|Leber congenital amaurosis [RCV000396442]|Retinitis Pigmentosa, Dominant [RCV000291052] Chr19:47841571..47841572 [GRCh38]
Chr19:48344828..48344829 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_000554.6(CRX):c.857T>C (p.Leu286Pro) single nucleotide variant Cone-rod dystrophy 2 [RCV000380030]|Inborn genetic diseases [RCV002521241]|Leber congenital amaurosis 7 [RCV000323112]|Leber congenital amaurosis 7 [RCV002521240]|Retinitis pigmentosa [RCV000260824] Chr19:47839924 [GRCh38]
Chr19:48343181 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_000554.6(CRX):c.*400A>T single nucleotide variant Cone-rod dystrophy 2 [RCV000279125]|Leber congenital amaurosis 7 [RCV000351163]|Retinitis pigmentosa [RCV000398174] Chr19:47840367 [GRCh38]
Chr19:48343624 [GRCh37]
Chr19:19q13.33
benign
NM_000554.6(CRX):c.*2137G>A single nucleotide variant Cone-rod dystrophy 2 [RCV000318530]|Leber congenital amaurosis 7 [RCV000372070]|Retinitis pigmentosa [RCV000279799] Chr19:47842104 [GRCh38]
Chr19:48345361 [GRCh37]
Chr19:19q13.33
benign|likely benign|uncertain significance
NM_000554.6(CRX):c.717C>A (p.Gly239=) single nucleotide variant Cone-rod dystrophy 2 [RCV000261856]|Leber congenital amaurosis 7 [RCV000319418]|Leber congenital amaurosis 7 [RCV002057520]|Retinitis pigmentosa [RCV000371926] Chr19:47839784 [GRCh38]
Chr19:48343041 [GRCh37]
Chr19:19q13.33
likely benign|uncertain significance
NM_000554.6(CRX):c.*679G>A single nucleotide variant Cone-rod dystrophy 2 [RCV000306740]|Leber congenital amaurosis 7 [RCV000390337]|Retinitis pigmentosa [RCV000347574] Chr19:47840646 [GRCh38]
Chr19:48343903 [GRCh37]
Chr19:19q13.33
benign|likely benign
NM_000554.6(CRX):c.*1122G>C single nucleotide variant Cone-rod dystrophy 2 [RCV000338965]|Leber congenital amaurosis 7 [RCV000373918]|Retinitis pigmentosa [RCV000281627] Chr19:47841089 [GRCh38]
Chr19:48344346 [GRCh37]
Chr19:19q13.33
benign
NM_000554.6(CRX):c.105C>A (p.Ala35=) single nucleotide variant Cone-rod dystrophy 2 [RCV000389392]|Leber congenital amaurosis 7 [RCV000333028]|Retinitis pigmentosa [RCV000273977] Chr19:47836247 [GRCh38]
Chr19:48339504 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_000554.6(CRX):c.*2039C>T single nucleotide variant Cone-rod dystrophy 2 [RCV000361147]|Leber congenital amaurosis 7 [RCV000401185]|Retinitis pigmentosa [RCV000307672] Chr19:47842006 [GRCh38]
Chr19:48345263 [GRCh37]
Chr19:19q13.33
benign|likely benign|uncertain significance
NM_000554.6(CRX):c.551C>T (p.Pro184Leu) single nucleotide variant Cone-rod dystrophy 2 [RCV000402156]|Leber congenital amaurosis 7 [RCV000307457]|Leber congenital amaurosis 7 [RCV000955564]|Retinitis pigmentosa [RCV000369179]|not specified [RCV000615113] Chr19:47839618 [GRCh38]
Chr19:48342875 [GRCh37]
Chr19:19q13.33
benign|likely benign
NM_000554.6(CRX):c.*2155G>A single nucleotide variant Cone-rod dystrophy 2 [RCV000375950]|Leber congenital amaurosis 7 [RCV000341233]|Retinitis pigmentosa [RCV000283747] Chr19:47842122 [GRCh38]
Chr19:48345379 [GRCh37]
Chr19:19q13.33
benign|likely benign
NM_000554.6(CRX):c.*6G>A single nucleotide variant Cone-rod dystrophy 2 [RCV000340719]|Leber congenital amaurosis 7 [RCV000383663]|Retinitis pigmentosa [RCV000283331] Chr19:47839973 [GRCh38]
Chr19:48343230 [GRCh37]
Chr19:19q13.33
likely benign|uncertain significance
NM_000554.6(CRX):c.*1309T>C single nucleotide variant Cone-rod dystrophy 2 [RCV000262703]|Leber congenital amaurosis 7 [RCV000320228]|Retinitis pigmentosa [RCV000377055] Chr19:47841276 [GRCh38]
Chr19:48344533 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_000554.6(CRX):c.*1148G>C single nucleotide variant Cone-rod dystrophy 2 [RCV000285370]|Leber congenital amaurosis 7 [RCV000342568]|Retinitis pigmentosa [RCV000396220] Chr19:47841115 [GRCh38]
Chr19:48344372 [GRCh37]
Chr19:19q13.33
likely benign
NM_000554.6(CRX):c.*2171C>T single nucleotide variant Cone-rod dystrophy 2 [RCV000396134]|Leber congenital amaurosis 7 [RCV000287172]|Retinitis pigmentosa [RCV000344513] Chr19:47842138 [GRCh38]
Chr19:48345395 [GRCh37]
Chr19:19q13.33
benign
NM_000554.6(CRX):c.*3301T>C single nucleotide variant Cone-rod dystrophy 2 [RCV000287438]|Leber congenital amaurosis 7 [RCV000378432]|Retinitis pigmentosa [RCV000323868] Chr19:47843268 [GRCh38]
Chr19:48346525 [GRCh37]
Chr19:19q13.33
benign
NM_000554.6(CRX):c.448del (p.Ser150fs) deletion not provided [RCV000353578] Chr19:47839515 [GRCh38]
Chr19:48342772 [GRCh37]
Chr19:19q13.33
pathogenic
NM_000554.6(CRX):c.*2396C>T single nucleotide variant Cone-rod dystrophy 2 [RCV000289359]|Leber congenital amaurosis 7 [RCV000380212]|Retinitis pigmentosa [RCV000325633] Chr19:47842363 [GRCh38]
Chr19:48345620 [GRCh37]
Chr19:19q13.33
benign|likely benign
NM_000554.6(CRX):c.*2937T>C single nucleotide variant Cone-rod dystrophy 2 [RCV000345551]|Leber congenital amaurosis 7 [RCV000290633]|Retinitis pigmentosa [RCV000384422] Chr19:47842904 [GRCh38]
Chr19:48346161 [GRCh37]
Chr19:19q13.33
benign
NM_000554.6(CRX):c.*118C>A single nucleotide variant Cone-rod dystrophy 2 [RCV000401350]|Leber congenital amaurosis 7 [RCV000293631]|Retinitis pigmentosa [RCV000348576] Chr19:47840085 [GRCh38]
Chr19:48343342 [GRCh37]
Chr19:19q13.33
benign|likely benign|uncertain significance
NM_000554.6(CRX):c.*1220G>A single nucleotide variant Cone-rod dystrophy 2 [RCV000313107]|Leber congenital amaurosis 7 [RCV000399628]|Retinitis pigmentosa [RCV000370130] Chr19:47841187 [GRCh38]
Chr19:48344444 [GRCh37]
Chr19:19q13.33
benign|likely benign
NM_000554.6(CRX):c.*2375G>A single nucleotide variant Cone-rod dystrophy 2 [RCV000259395]|Leber congenital amaurosis 7 [RCV000316943]|Retinitis pigmentosa [RCV000355469] Chr19:47842342 [GRCh38]
Chr19:48345599 [GRCh37]
Chr19:19q13.33
benign|likely benign
NM_000554.6(CRX):c.*1900del deletion Cone-Rod Dystrophy, Dominant [RCV000328909]|Leber congenital amaurosis [RCV000385852]|Retinitis Pigmentosa, Dominant [RCV000293870] Chr19:47841858 [GRCh38]
Chr19:48345115 [GRCh37]
Chr19:19q13.33
benign
NM_000554.6(CRX):c.*3238G>A single nucleotide variant Cone-rod dystrophy 2 [RCV000398918]|Leber congenital amaurosis 7 [RCV000297317]|Retinitis pigmentosa [RCV000370735] Chr19:47843205 [GRCh38]
Chr19:48346462 [GRCh37]
Chr19:19q13.33
benign
NM_000554.6(CRX):c.*2559G>C single nucleotide variant Cone-rod dystrophy 2 [RCV000352013]|Leber congenital amaurosis 7 [RCV000402061]|Retinitis pigmentosa [RCV000297411] Chr19:47842526 [GRCh38]
Chr19:48345783 [GRCh37]
Chr19:19q13.33
benign
NM_000554.6(CRX):c.*1759G>T single nucleotide variant Cone-rod dystrophy 2 [RCV000359083]|Leber congenital amaurosis 7 [RCV000301913]|Retinitis pigmentosa [RCV000267014] Chr19:47841726 [GRCh38]
Chr19:48344983 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_000554.6(CRX):c.*2380C>T single nucleotide variant Cone-rod dystrophy 2 [RCV000377544]|Leber congenital amaurosis 7 [RCV000262999]|Retinitis pigmentosa [RCV000320552] Chr19:47842347 [GRCh38]
Chr19:48345604 [GRCh37]
Chr19:19q13.33
benign|likely benign
NM_000554.6(CRX):c.*2850G>A single nucleotide variant Cone-rod dystrophy 2 [RCV000358596]|Leber congenital amaurosis 7 [RCV000318013]|Retinitis pigmentosa [RCV000263803] Chr19:47842817 [GRCh38]
Chr19:48346074 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_000554.6(CRX):c.*809C>G single nucleotide variant Cone-rod dystrophy 2 [RCV000300262]|Leber congenital amaurosis 7 [RCV000264833]|Retinitis pigmentosa [RCV000359592] Chr19:47840776 [GRCh38]
Chr19:48344033 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_000554.6(CRX):c.102C>T (p.Ser34=) single nucleotide variant Leber congenital amaurosis 7 [RCV000946108]|not specified [RCV000402665] Chr19:47836244 [GRCh38]
Chr19:48339501 [GRCh37]
Chr19:19q13.33
benign|likely benign
NM_000554.6(CRX):c.*234G>A single nucleotide variant Cone-rod dystrophy 2 [RCV000300377]|Leber congenital amaurosis 7 [RCV000355260]|Retinitis pigmentosa [RCV000265328] Chr19:47840201 [GRCh38]
Chr19:48343458 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_000554.6(CRX):c.*966G>C single nucleotide variant Cone-rod dystrophy 2 [RCV000400727]|Leber congenital amaurosis 7 [RCV000337031]|Retinitis pigmentosa [RCV000301974] Chr19:47840933 [GRCh38]
Chr19:48344190 [GRCh37]
Chr19:19q13.33
benign
NM_000554.6(CRX):c.*2017C>T single nucleotide variant Cone-rod dystrophy 2 [RCV000339044]|Leber congenital amaurosis 7 [RCV000303937]|Retinitis pigmentosa [RCV000400217] Chr19:47841984 [GRCh38]
Chr19:48345241 [GRCh37]
Chr19:19q13.33
benign|likely benign
NM_000554.6(CRX):c.403C>A (p.Pro135Thr) single nucleotide variant not provided [RCV000266571] Chr19:47839470 [GRCh38]
Chr19:48342727 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_000554.6(CRX):c.*2821G>A single nucleotide variant Cone-rod dystrophy 2 [RCV000303813]|Leber congenital amaurosis 7 [RCV000267436]|Retinitis pigmentosa [RCV000362112] Chr19:47842788 [GRCh38]
Chr19:48346045 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_000554.6(CRX):c.*2602C>T single nucleotide variant Cone-rod dystrophy 2 [RCV000363273]|Leber congenital amaurosis 7 [RCV000268734]|Retinitis pigmentosa [RCV000308708] Chr19:47842569 [GRCh38]
Chr19:48345826 [GRCh37]
Chr19:19q13.33
benign|likely benign
NM_000554.6(CRX):c.*839C>T single nucleotide variant Cone-rod dystrophy 2 [RCV000268811]|Leber congenital amaurosis 7 [RCV000360764]|Retinitis pigmentosa [RCV000324810] Chr19:47840806 [GRCh38]
Chr19:48344063 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_000554.6(CRX):c.*972C>G single nucleotide variant Cone-rod dystrophy 2 [RCV000400555]|Leber congenital amaurosis 7 [RCV000306820]|Retinitis pigmentosa [RCV000361408] Chr19:47840939 [GRCh38]
Chr19:48344196 [GRCh37]
Chr19:19q13.33
benign|likely benign
NM_000554.6(CRX):c.404del (p.Pro135fs) deletion Leber congenital amaurosis 7 [RCV001202810]|not provided [RCV000488002] Chr19:47839469 [GRCh38]
Chr19:48342726 [GRCh37]
Chr19:19q13.33
pathogenic|likely pathogenic
NM_000554.6(CRX):c.*756T>A single nucleotide variant Cone-rod dystrophy 2 [RCV000292013]|Leber congenital amaurosis 7 [RCV000394106]|Retinitis pigmentosa [RCV000346864] Chr19:47840723 [GRCh38]
Chr19:48343980 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_000554.6(CRX):c.*435del deletion Cone-Rod Dystrophy, Dominant [RCV000304096]|Leber congenital amaurosis [RCV000358407]|Retinitis Pigmentosa, Dominant [RCV000400415] Chr19:47840392 [GRCh38]
Chr19:48343649 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_000554.6(CRX):c.*2889G>A single nucleotide variant Cone-rod dystrophy 2 [RCV000387803]|Leber congenital amaurosis 7 [RCV000348448]|Retinitis pigmentosa [RCV000293513] Chr19:47842856 [GRCh38]
Chr19:48346113 [GRCh37]
Chr19:19q13.33
uncertain significance
GRCh37/hg19 19q13.33(chr19:48242225-48399399)x3 copy number gain not provided [RCV000584905] Chr19:48242225..48399399 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_000554.6(CRX):c.*746T>C single nucleotide variant Cone-rod dystrophy 2 [RCV000345716]|Leber congenital amaurosis 7 [RCV000285282]|Retinitis pigmentosa [RCV000381687] Chr19:47840713 [GRCh38]
Chr19:48343970 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_000554.6(CRX):c.*2785C>T single nucleotide variant Cone-rod dystrophy 2 [RCV000394056]|Leber congenital amaurosis 7 [RCV000346975]|Retinitis pigmentosa [RCV000307332] Chr19:47842752 [GRCh38]
Chr19:48346009 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_000554.6(CRX):c.327G>A (p.Gly109=) single nucleotide variant not provided [RCV000585586] Chr19:47839394 [GRCh38]
Chr19:48342651 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_000554.6(CRX):c.*392G>A single nucleotide variant Cone-rod dystrophy 2 [RCV000296826]|Leber congenital amaurosis 7 [RCV000331801]|Retinitis pigmentosa [RCV000386432] Chr19:47840359 [GRCh38]
Chr19:48343616 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_000554.6(CRX):c.*1149G>A single nucleotide variant Cone-rod dystrophy 2 [RCV000366436]|Leber congenital amaurosis 7 [RCV000309505]|Retinitis pigmentosa [RCV000396149] Chr19:47841116 [GRCh38]
Chr19:48344373 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_000554.6(CRX):c.*2952G>A single nucleotide variant Cone-rod dystrophy 2 [RCV000287041]|Leber congenital amaurosis 7 [RCV000396052]|Retinitis pigmentosa [RCV000341936] Chr19:47842919 [GRCh38]
Chr19:48346176 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_000554.6(CRX):c.78G>A (p.Met26Ile) single nucleotide variant Cone-rod dystrophy 2 [RCV000341362]|Leber congenital amaurosis 7 [RCV000391648]|Retinitis pigmentosa [RCV000298080] Chr19:47834521 [GRCh38]
Chr19:48337778 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_000554.6(CRX):c.-55C>T single nucleotide variant Cone-rod dystrophy 2 [RCV000326410]|Leber congenital amaurosis 7 [RCV000287829]|Retinitis pigmentosa [RCV000387930] Chr19:47821991 [GRCh38]
Chr19:48325248 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_000554.6(CRX):c.*132G>A single nucleotide variant Cone-rod dystrophy 2 [RCV000354310]|Leber congenital amaurosis 7 [RCV000313408]|Retinitis pigmentosa [RCV000392519] Chr19:47840099 [GRCh38]
Chr19:48343356 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_000554.6(CRX):c.*1654dup duplication Cone-Rod Dystrophy, Dominant [RCV000351969]|Leber congenital amaurosis [RCV000313469]|Retinitis Pigmentosa, Dominant [RCV000401243] Chr19:47841617..47841618 [GRCh38]
Chr19:48344874..48344875 [GRCh37]
Chr19:19q13.33
likely benign
NM_000554.6(CRX):c.332A>G (p.Gln111Arg) single nucleotide variant Leber congenital amaurosis 7 [RCV001860176]|not provided [RCV000591774] Chr19:47839399 [GRCh38]
Chr19:48342656 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_000554.6(CRX):c.856_865delinsGATCCC (p.Leu286fs) indel not provided [RCV000593482] Chr19:47839923..47839932 [GRCh38]
Chr19:48343180..48343189 [GRCh37]
Chr19:19q13.33
likely pathogenic
NM_000554.6(CRX):c.565del (p.Ala189fs) deletion Leber congenital amaurosis 7 [RCV000735752] Chr19:47839632 [GRCh38]
Chr19:48342889 [GRCh37]
Chr19:19q13.33
likely pathogenic
GRCh37/hg19 19q13.33(chr19:48334930-48402210)x1 copy number loss See cases [RCV000446670] Chr19:48334930..48402210 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_000554.6(CRX):c.119G>A (p.Arg40Gln) single nucleotide variant Leber congenital amaurosis 7 [RCV001857203]|Retinal dystrophy [RCV000504788] Chr19:47836261 [GRCh38]
Chr19:48339518 [GRCh37]
Chr19:19q13.33
pathogenic|likely pathogenic
NM_000554.6(CRX):c.295C>T (p.Gln99Ter) single nucleotide variant Macular dystrophy [RCV000505016] Chr19:47839362 [GRCh38]
Chr19:48342619 [GRCh37]
Chr19:19q13.33
likely pathogenic
NM_000554.6(CRX):c.448_449del (p.Ser150fs) deletion Retinitis pigmentosa [RCV000504684] Chr19:47839514..47839515 [GRCh38]
Chr19:48342771..48342772 [GRCh37]
Chr19:19q13.33
likely pathogenic
NM_000554.6(CRX):c.100+3_100+5delinsTTA indel Leber congenital amaurosis 7 [RCV001054464]|not provided [RCV000485254] Chr19:47834546..47834548 [GRCh38]
Chr19:48337803..48337805 [GRCh37]
Chr19:19q13.33
likely pathogenic|uncertain significance
GRCh37/hg19 19q13.32-13.33(chr19:46404248-48488721)x1 copy number loss See cases [RCV000511362] Chr19:46404248..48488721 [GRCh37]
Chr19:19q13.32-13.33
likely pathogenic
NM_000554.6(CRX):c.380C>T (p.Pro127Leu) single nucleotide variant Inborn genetic diseases [RCV003291753] Chr19:47839447 [GRCh38]
Chr19:48342704 [GRCh37]
Chr19:19q13.33
uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3 copy number gain See cases [RCV000511289] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic|uncertain significance
NM_000554.6(CRX):c.164dup (p.Ala56fs) duplication not provided [RCV000627476] Chr19:47836305..47836306 [GRCh38]
Chr19:48339562..48339563 [GRCh37]
Chr19:19q13.33
likely pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888) copy number gain See cases [RCV000512296] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic
NM_000554.6(CRX):c.568C>T (p.Pro190Ser) single nucleotide variant not provided [RCV000658253] Chr19:47839635 [GRCh38]
Chr19:48342892 [GRCh37]
Chr19:19q13.33
uncertain significance
Single allele deletion not provided [RCV000677996] Chr19:47801523..47842272 [GRCh38]
Chr19:48304780..48345529 [GRCh37]
Chr19:19q13.33
uncertain significance
GRCh37/hg19 19q13.33(chr19:48303876-48402211)x1 copy number loss not provided [RCV000684070] Chr19:48303876..48402211 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_000554.6(CRX):c.205C>T (p.Arg69Cys) single nucleotide variant Leber congenital amaurosis 7 [RCV002531393]|Retinal dystrophy [RCV001074637]|Retinitis pigmentosa [RCV000678552] Chr19:47836347 [GRCh38]
Chr19:48339604 [GRCh37]
Chr19:19q13.33
pathogenic|uncertain significance
GRCh37/hg19 19q13.33(chr19:48206212-48431087)x3 copy number gain not provided [RCV000684075] Chr19:48206212..48431087 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_000554.6(CRX):c.101-200T>C single nucleotide variant not provided [RCV001530919] Chr19:47836043 [GRCh38]
Chr19:48339300 [GRCh37]
Chr19:19q13.33
benign
GRCh37/hg19 19p13.3-q13.43(chr19:68029-59110290)x3 copy number gain not provided [RCV000752439] Chr19:68029..59110290 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:260912-59097160)x3 copy number gain not provided [RCV000752444] Chr19:260912..59097160 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic
NM_000554.6(CRX):c.-35-150T>C single nucleotide variant not provided [RCV001644199] Chr19:47834259 [GRCh38]
Chr19:48337516 [GRCh37]
Chr19:19q13.33
benign
NM_000554.6(CRX):c.464C>T (p.Thr155Met) single nucleotide variant Inborn genetic diseases [RCV002553971]|Leber congenital amaurosis 7 [RCV001065192] Chr19:47839531 [GRCh38]
Chr19:48342788 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_000554.6(CRX):c.*1684G>A single nucleotide variant Cone-rod dystrophy 2 [RCV001133217]|Leber congenital amaurosis 7 [RCV001132283]|Retinitis pigmentosa [RCV001132282] Chr19:47841651 [GRCh38]
Chr19:48344908 [GRCh37]
Chr19:19q13.33
benign|likely benign|uncertain significance
NM_000554.6(CRX):c.570dup (p.Tyr191fs) duplication Cone-rod dystrophy 2 [RCV001544506] Chr19:47839632..47839633 [GRCh38]
Chr19:48342889..48342890 [GRCh37]
Chr19:19q13.33
pathogenic
NC_000019.10:g.(?_47801775)_(47886257_?)del deletion Leber congenital amaurosis 7 [RCV001031387] Chr19:48305032..48389514 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_000554.6(CRX):c.*3077C>G single nucleotide variant Cone-rod dystrophy 2 [RCV001135151]|Leber congenital amaurosis 7 [RCV001135153]|Retinitis pigmentosa [RCV001135152] Chr19:47843044 [GRCh38]
Chr19:48346301 [GRCh37]
Chr19:19q13.33
uncertain significance
NC_000019.10:g.(?_47839320)_(47839967_?)del deletion Leber congenital amaurosis 7 [RCV001031529] Chr19:48342577..48343224 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_000554.6(CRX):c.127C>T (p.Arg43Cys) single nucleotide variant Cone-rod dystrophy [RCV000787585]|Leber congenital amaurosis 7 [RCV001869190] Chr19:47836269 [GRCh38]
Chr19:48339526 [GRCh37]
Chr19:19q13.33
pathogenic|likely pathogenic
NM_000554.6(CRX):c.*2402G>T single nucleotide variant Cone-rod dystrophy 2 [RCV001133407]|Leber congenital amaurosis 7 [RCV001133408]|Retinitis pigmentosa [RCV001133409] Chr19:47842369 [GRCh38]
Chr19:48345626 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_000554.6(CRX):c.*205G>A single nucleotide variant Cone-rod dystrophy 2 [RCV001131822]|Leber congenital amaurosis 7 [RCV001131820]|Retinitis pigmentosa [RCV001131821] Chr19:47840172 [GRCh38]
Chr19:48343429 [GRCh37]
Chr19:19q13.33
uncertain significance
NC_000019.10:g.(?_47834444)_(47836394_?)del deletion Leber congenital amaurosis 7 [RCV001032092] Chr19:48337701..48339651 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_000554.6(CRX):c.273G>A (p.Arg91=) single nucleotide variant Leber congenital amaurosis 7 [RCV001494755] Chr19:47839340 [GRCh38]
Chr19:48342597 [GRCh37]
Chr19:19q13.33
likely benign
NM_000554.6(CRX):c.367A>G (p.Thr123Ala) single nucleotide variant Leber congenital amaurosis 7 [RCV002066221] Chr19:47839434 [GRCh38]
Chr19:48342691 [GRCh37]
Chr19:19q13.33
likely benign
NM_000554.6(CRX):c.100+8C>T single nucleotide variant Leber congenital amaurosis 7 [RCV000937282] Chr19:47834551 [GRCh38]
Chr19:48337808 [GRCh37]
Chr19:19q13.33
likely benign
NM_000554.6(CRX):c.723C>T (p.Ser241=) single nucleotide variant not provided [RCV000919926] Chr19:47839790 [GRCh38]
Chr19:48343047 [GRCh37]
Chr19:19q13.33
likely benign
NM_000554.6(CRX):c.684_685delinsAA (p.Leu229Ile) indel Leber congenital amaurosis 7 [RCV001862603]|Retinal dystrophy [RCV001075242] Chr19:47839751..47839752 [GRCh38]
Chr19:48343008..48343009 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_000554.6(CRX):c.378A>C (p.Arg126Ser) single nucleotide variant Retinal dystrophy [RCV001075650] Chr19:47839445 [GRCh38]
Chr19:48342702 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_000554.6(CRX):c.43G>C (p.Ala15Pro) single nucleotide variant Leber congenital amaurosis 7 [RCV002554773]|Retinal dystrophy [RCV001075819] Chr19:47834486 [GRCh38]
Chr19:48337743 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_000554.6(CRX):c.586del (p.Ala196fs) deletion Retinal dystrophy [RCV001075865] Chr19:47839653 [GRCh38]
Chr19:48342910 [GRCh37]
Chr19:19q13.33
likely pathogenic
NM_000554.6(CRX):c.239A>G (p.Glu80Gly) single nucleotide variant Retinal dystrophy [RCV001073303] Chr19:47836381 [GRCh38]
Chr19:48339638 [GRCh37]
Chr19:19q13.33
pathogenic
NM_000554.6(CRX):c.118C>T (p.Arg40Trp) single nucleotide variant Cone-rod dystrophy 2 [RCV001352999]|Leber congenital amaurosis 7 [RCV001071559]|Retinal dystrophy [RCV001075179]|not provided [RCV003318660] Chr19:47836260 [GRCh38]
Chr19:48339517 [GRCh37]
Chr19:19q13.33
pathogenic|likely pathogenic|uncertain significance
NM_000554.6(CRX):c.873G>T (p.Gln291His) single nucleotide variant Retinal dystrophy [RCV001074125] Chr19:47839940 [GRCh38]
Chr19:48343197 [GRCh37]
Chr19:19q13.33
uncertain significance
NC_000019.10:g.(?_47818438)_(47886257_?)del deletion Leber congenital amaurosis 7 [RCV001033057] Chr19:48321695..48389514 [GRCh37]
Chr19:19q13.33
uncertain significance
GRCh37/hg19 19q13.32-13.33(chr19:47036361-48525536) copy number gain not provided [RCV000767770] Chr19:47036361..48525536 [GRCh37]
Chr19:19q13.32-13.33
pathogenic
NM_000554.6(CRX):c.276T>G (p.Ala92=) single nucleotide variant Leber congenital amaurosis 7 [RCV000949190] Chr19:47839343 [GRCh38]
Chr19:48342600 [GRCh37]
Chr19:19q13.33
benign
NM_000554.6(CRX):c.827G>A (p.Trp276Ter) single nucleotide variant Stargardt disease [RCV000787588] Chr19:47839894 [GRCh38]
Chr19:48343151 [GRCh37]
Chr19:19q13.33
likely pathogenic
GRCh37/hg19 19q13.33(chr19:48119589-49595956)x3 copy number gain not provided [RCV000848800] Chr19:48119589..49595956 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_000554.6(CRX):c.*79C>T single nucleotide variant Cone-rod dystrophy 2 [RCV001136108]|Leber congenital amaurosis 7 [RCV001136110]|Retinitis pigmentosa [RCV001136109] Chr19:47840046 [GRCh38]
Chr19:48343303 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_000554.6(CRX):c.766C>T (p.Gln256Ter) single nucleotide variant Cone-rod dystrophy 2 [RCV002249668]|Leber congenital amaurosis 7 [RCV001067544] Chr19:47839833 [GRCh38]
Chr19:48343090 [GRCh37]
Chr19:19q13.33
likely pathogenic|uncertain significance
NM_000554.6(CRX):c.*2225A>G single nucleotide variant Cone-rod dystrophy 2 [RCV001134771]|Leber congenital amaurosis 7 [RCV001134773]|Retinitis pigmentosa [RCV001134772] Chr19:47842192 [GRCh38]
Chr19:48345449 [GRCh37]
Chr19:19q13.33
uncertain significance
GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3 copy number gain not provided [RCV000845733] Chr19:28271106..49213832 [GRCh37]
Chr19:19q11-13.33
pathogenic
GRCh37/hg19 19q13.31-13.42(chr19:44738088-53621561)x3 copy number gain not provided [RCV001007050] Chr19:44738088..53621561 [GRCh37]
Chr19:19q13.31-13.42
pathogenic
NM_000554.6(CRX):c.651C>T (p.Gly217=) single nucleotide variant Cone-rod dystrophy 2 [RCV001129012]|Leber congenital amaurosis 7 [RCV001131693]|Retinitis pigmentosa [RCV001129011] Chr19:47839718 [GRCh38]
Chr19:48342975 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_000554.6(CRX):c.*2544G>A single nucleotide variant Cone-rod dystrophy 2 [RCV001134891]|Leber congenital amaurosis 7 [RCV001134889]|Retinitis pigmentosa [RCV001134890] Chr19:47842511 [GRCh38]
Chr19:48345768 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_000554.6(CRX):c.565G>C (p.Ala189Pro) single nucleotide variant Cone-rod dystrophy 2 [RCV001135986]|Inborn genetic diseases [RCV002556891]|Leber congenital amaurosis 7 [RCV001135988]|Leber congenital amaurosis 7 [RCV001349508]|Retinitis pigmentosa [RCV001135987] Chr19:47839632 [GRCh38]
Chr19:48342889 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_000554.6(CRX):c.765C>T (p.Gly255=) single nucleotide variant Cone-rod dystrophy 2 [RCV001131695]|Leber congenital amaurosis 7 [RCV001131694]|Leber congenital amaurosis 7 [RCV001213963]|Retinitis pigmentosa [RCV001131696] Chr19:47839832 [GRCh38]
Chr19:48343089 [GRCh37]
Chr19:19q13.33
likely benign|uncertain significance
NM_000554.6(CRX):c.*1223A>G single nucleotide variant Cone-rod dystrophy 2 [RCV001133100]|Leber congenital amaurosis 7 [RCV001134574]|Retinitis pigmentosa [RCV001133101] Chr19:47841190 [GRCh38]
Chr19:48344447 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_000554.6(CRX):c.381dup (p.Ser128fs) duplication Stargardt disease [RCV000787586] Chr19:47839445..47839446 [GRCh38]
Chr19:48342702..48342703 [GRCh37]
Chr19:19q13.33
likely pathogenic
NM_000554.4:c.(?_-1)_(*1_?)dup duplication Retinitis pigmentosa [RCV000787928] Chr19:19q13.33 uncertain significance
NM_000554.6(CRX):c.684G>C (p.Gln228His) single nucleotide variant Leber congenital amaurosis 7 [RCV002536890]|Retinitis pigmentosa [RCV000787587] Chr19:47839751 [GRCh38]
Chr19:48343008 [GRCh37]
Chr19:19q13.33
likely pathogenic|uncertain significance
NM_000554.6(CRX):c.*366C>T single nucleotide variant Cone-rod dystrophy 2 [RCV001132803]|Leber congenital amaurosis 7 [RCV001132804]|Retinitis pigmentosa [RCV001136199] Chr19:47840333 [GRCh38]
Chr19:48343590 [GRCh37]
Chr19:19q13.33
benign|likely benign|uncertain significance
GRCh37/hg19 19q13.33(chr19:48043102-48402210)x3 copy number gain not provided [RCV001007054] Chr19:48043102..48402210 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_000554.6(CRX):c.*2040G>A single nucleotide variant Cone-rod dystrophy 2 [RCV001129661]|Leber congenital amaurosis 7 [RCV001129660]|Retinitis pigmentosa [RCV001129662] Chr19:47842007 [GRCh38]
Chr19:48345264 [GRCh37]
Chr19:19q13.33
likely benign|uncertain significance
NM_000554.6(CRX):c.500_501del (p.Ala166_Ser167insTer) deletion Leber congenital amaurosis 1 [RCV000990237]|Leber congenital amaurosis 7 [RCV001233804] Chr19:47839567..47839568 [GRCh38]
Chr19:48342824..48342825 [GRCh37]
Chr19:19q13.33
pathogenic
NM_000554.6(CRX):c.253-7C>G single nucleotide variant Leber congenital amaurosis 7 [RCV001226784] Chr19:47839313 [GRCh38]
Chr19:48342570 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_000554.6(CRX):c.581C>A (p.Thr194Asn) single nucleotide variant Leber congenital amaurosis 7 [RCV001213857] Chr19:47839648 [GRCh38]
Chr19:48342905 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_000554.6(CRX):c.487T>C (p.Trp163Arg) single nucleotide variant Leber congenital amaurosis 7 [RCV001242594]|not provided [RCV002285462] Chr19:47839554 [GRCh38]
Chr19:48342811 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_000554.6(CRX):c.258G>C (p.Trp86Cys) single nucleotide variant Leber congenital amaurosis 7 [RCV001223743] Chr19:47839325 [GRCh38]
Chr19:48342582 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_000554.6(CRX):c.343C>T (p.Arg115Trp) single nucleotide variant Leber congenital amaurosis 7 [RCV001226434] Chr19:47839410 [GRCh38]
Chr19:48342667 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_000554.6(CRX):c.512del (p.Leu171fs) deletion Leber congenital amaurosis 7 [RCV001250584]|Leber congenital amaurosis 7 [RCV001879781] Chr19:47839577 [GRCh38]
Chr19:48342834 [GRCh37]
Chr19:19q13.33
pathogenic
NM_000554.6(CRX):c.816del (p.Thr273fs) deletion Leber congenital amaurosis 7 [RCV001250590] Chr19:47839880 [GRCh38]
Chr19:48343137 [GRCh37]
Chr19:19q13.33
pathogenic
NM_000554.6(CRX):c.191del (p.Pro64fs) deletion Leber congenital amaurosis 7 [RCV001250591] Chr19:47836331 [GRCh38]
Chr19:48339588 [GRCh37]
Chr19:19q13.33
pathogenic
NM_000554.6(CRX):c.585C>A (p.Tyr195Ter) single nucleotide variant Leber congenital amaurosis 7 [RCV001250588] Chr19:47839652 [GRCh38]
Chr19:48342909 [GRCh37]
Chr19:19q13.33
pathogenic
NM_000554.6(CRX):c.450del (p.Gly151fs) deletion Leber congenital amaurosis 7 [RCV001250659] Chr19:47839517 [GRCh38]
Chr19:48342774 [GRCh37]
Chr19:19q13.33
pathogenic
NM_000554.6(CRX):c.*2404C>T single nucleotide variant Cone-rod dystrophy 2 [RCV001133412]|Leber congenital amaurosis 7 [RCV001133410]|Retinitis pigmentosa [RCV001133411] Chr19:47842371 [GRCh38]
Chr19:48345628 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_000554.6(CRX):c.*2979T>C single nucleotide variant Cone-rod dystrophy 2 [RCV001133657]|Leber congenital amaurosis 7 [RCV001133656]|Retinitis pigmentosa [RCV001133655] Chr19:47842946 [GRCh38]
Chr19:48346203 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_000554.6(CRX):c.491G>A (p.Ser164Asn) single nucleotide variant Inborn genetic diseases [RCV002555842]|Leber congenital amaurosis 7 [RCV001065467] Chr19:47839558 [GRCh38]
Chr19:48342815 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_000554.6(CRX):c.523C>T (p.Gln175Ter) single nucleotide variant Congenital blindness [RCV002287485]|Leber congenital amaurosis 7 [RCV001250585]|Leber congenital amaurosis 7 [RCV002570426] Chr19:47839590 [GRCh38]
Chr19:48342847 [GRCh37]
Chr19:19q13.33
pathogenic|uncertain significance
NM_000554.6(CRX):c.458del (p.Pro153fs) deletion Leber congenital amaurosis 7 [RCV001250660] Chr19:47839522 [GRCh38]
Chr19:48342779 [GRCh37]
Chr19:19q13.33
pathogenic
NM_000554.6(CRX):c.406C>T (p.Leu136=) single nucleotide variant Leber congenital amaurosis 7 [RCV003104932] Chr19:47839473 [GRCh38]
Chr19:48342730 [GRCh37]
Chr19:19q13.33
likely benign
NC_000019.9:g.(?_48337701)_(48337820_?)del deletion Leber congenital amaurosis 7 [RCV003105259] Chr19:48337701..48337820 [GRCh37]
Chr19:19q13.33
uncertain significance
NC_000019.9:g.(?_48339480)_(48343224_?)del deletion Leber congenital amaurosis 7 [RCV003105260] Chr19:48339480..48343224 [GRCh37]
Chr19:19q13.33
pathogenic
NM_000554.6(CRX):c.445_467del (p.Pro149fs) deletion not provided [RCV003233176] Chr19:47839508..47839530 [GRCh38]
Chr19:48342765..48342787 [GRCh37]
Chr19:19q13.33
likely pathogenic
NM_000554.6(CRX):c.-35-120A>G single nucleotide variant not provided [RCV001610181] Chr19:47834289 [GRCh38]
Chr19:48337546 [GRCh37]
Chr19:19q13.33
benign
NM_000554.6(CRX):c.100+97G>A single nucleotide variant not provided [RCV001659574] Chr19:47834640 [GRCh38]
Chr19:48337897 [GRCh37]
Chr19:19q13.33
benign
NM_000554.6(CRX):c.101-147A>G single nucleotide variant not provided [RCV001718203] Chr19:47836096 [GRCh38]
Chr19:48339353 [GRCh37]
Chr19:19q13.33
benign
NM_000554.6(CRX):c.591G>A (p.Pro197=) single nucleotide variant Leber congenital amaurosis 7 [RCV002065581] Chr19:47839658 [GRCh38]
Chr19:48342915 [GRCh37]
Chr19:19q13.33
benign
NM_000554.6(CRX):c.129C>T (p.Arg43=) single nucleotide variant Leber congenital amaurosis 7 [RCV000907965] Chr19:47836271 [GRCh38]
Chr19:48339528 [GRCh37]
Chr19:19q13.33
likely benign
NM_000554.6(CRX):c.123G>A (p.Arg41=) single nucleotide variant Leber congenital amaurosis 7 [RCV002540805] Chr19:47836265 [GRCh38]
Chr19:48339522 [GRCh37]
Chr19:19q13.33
likely benign
NM_000554.6(CRX):c.570C>A (p.Pro190=) single nucleotide variant not provided [RCV000954776] Chr19:47839637 [GRCh38]
Chr19:48342894 [GRCh37]
Chr19:19q13.33
likely benign
NM_000554.6(CRX):c.380C>A (p.Pro127His) single nucleotide variant not provided [RCV001093248] Chr19:47839447 [GRCh38]
Chr19:48342704 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_000554.6(CRX):c.100+3G>C single nucleotide variant Leber congenital amaurosis 7 [RCV001244584] Chr19:47834546 [GRCh38]
Chr19:48337803 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_000554.6(CRX):c.*1330C>T single nucleotide variant Cone-rod dystrophy 2 [RCV001129550]|Leber congenital amaurosis 7 [RCV001129549]|Retinitis pigmentosa [RCV001134575] Chr19:47841297 [GRCh38]
Chr19:48344554 [GRCh37]
Chr19:19q13.33
uncertain significance
GRCh37/hg19 19q13.33(chr19:48328087-48339179) copy number loss Leber congenital amaurosis 7 [RCV001195137] Chr19:48328087..48339179 [GRCh37]
Chr19:19q13.33
pathogenic
NM_000554.6(CRX):c.489G>A (p.Trp163Ter) single nucleotide variant Leber congenital amaurosis 7 [RCV001250583] Chr19:47839556 [GRCh38]
Chr19:48342813 [GRCh37]
Chr19:19q13.33
pathogenic
GRCh37/hg19 19q13.32-13.42(chr19:47939842-54626871) copy number gain not provided [RCV001249294] Chr19:47939842..54626871 [GRCh37]
Chr19:19q13.32-13.42
not provided
NM_000554.6(CRX):c.344G>A (p.Arg115Gln) single nucleotide variant Leber congenital amaurosis 7 [RCV001222808] Chr19:47839411 [GRCh38]
Chr19:48342668 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_000554.6(CRX):c.*2935G>T single nucleotide variant Cone-rod dystrophy 2 [RCV001130700]|Leber congenital amaurosis 7 [RCV001130699]|Retinitis pigmentosa [RCV001130701] Chr19:47842902 [GRCh38]
Chr19:48346159 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_000554.6(CRX):c.590C>T (p.Pro197Leu) single nucleotide variant Inborn genetic diseases [RCV002563962]|Leber congenital amaurosis 7 [RCV001239949] Chr19:47839657 [GRCh38]
Chr19:48342914 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_000554.6(CRX):c.-46C>T single nucleotide variant Cone-rod dystrophy 2 [RCV001131446]|Leber congenital amaurosis 7 [RCV001131448]|Retinitis pigmentosa [RCV001131447] Chr19:47822000 [GRCh38]
Chr19:48325257 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_000554.6(CRX):c.606C>T (p.Cys202=) single nucleotide variant Cone-rod dystrophy 2 [RCV001129005]|Leber congenital amaurosis 7 [RCV001129006]|Leber congenital amaurosis 7 [RCV002558263]|Retinitis pigmentosa [RCV001129007] Chr19:47839673 [GRCh38]
Chr19:48342930 [GRCh37]
Chr19:19q13.33
likely benign|uncertain significance
NC_000019.10:g.(?_47839300)_(47839987_?)del deletion Leber congenital amaurosis 7 [RCV001031334] Chr19:48342557..48343244 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_000554.6(CRX):c.252+8G>C single nucleotide variant Leber congenital amaurosis 7 [RCV002065849] Chr19:47836402 [GRCh38]
Chr19:48339659 [GRCh37]
Chr19:19q13.33
likely benign
NM_000554.6(CRX):c.480_481del (p.Ser161fs) microsatellite Leber congenital amaurosis 1 [RCV000990236] Chr19:47839544..47839545 [GRCh38]
Chr19:48342801..48342802 [GRCh37]
Chr19:19q13.33
likely pathogenic
NM_000554.6(CRX):c.533_545dup (p.Gly183fs) duplication Cone-rod dystrophy 2 [RCV002251170] Chr19:47839599..47839600 [GRCh38]
Chr19:48342856..48342857 [GRCh37]
Chr19:19q13.33
likely pathogenic
NM_000554.6(CRX):c.253-242C>T single nucleotide variant not provided [RCV001659103] Chr19:47839078 [GRCh38]
Chr19:48342335 [GRCh37]
Chr19:19q13.33
benign
NM_000554.6(CRX):c.253-282G>A single nucleotide variant not provided [RCV001678024] Chr19:47839038 [GRCh38]
Chr19:48342295 [GRCh37]
Chr19:19q13.33
benign
NM_000554.6(CRX):c.253-235C>T single nucleotide variant not provided [RCV001637846] Chr19:47839085 [GRCh38]
Chr19:48342342 [GRCh37]
Chr19:19q13.33
benign
NM_000554.6(CRX):c.*110C>A single nucleotide variant Cone-rod dystrophy 2 [RCV001136112]|Leber congenital amaurosis 7 [RCV001129134]|Retinitis pigmentosa [RCV001136111] Chr19:47840077 [GRCh38]
Chr19:48343334 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_000554.6(CRX):c.*117T>A single nucleotide variant Cone-rod dystrophy 2 [RCV001129135]|Leber congenital amaurosis 7 [RCV001129136]|Retinitis pigmentosa [RCV001129137] Chr19:47840084 [GRCh38]
Chr19:48343341 [GRCh37]
Chr19:19q13.33
benign|likely benign|uncertain significance
NM_000554.6(CRX):c.*498G>A single nucleotide variant Cone-rod dystrophy 2 [RCV001129243]|Leber congenital amaurosis 7 [RCV001129244]|Retinitis pigmentosa [RCV001129242] Chr19:47840465 [GRCh38]
Chr19:48343722 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_000554.6(CRX):c.*2357G>A single nucleotide variant Cone-rod dystrophy 2 [RCV001129789]|Leber congenital amaurosis 7 [RCV001129790]|Retinitis pigmentosa [RCV001129788] Chr19:47842324 [GRCh38]
Chr19:48345581 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_000554.6(CRX):c.*3099C>T single nucleotide variant Cone-rod dystrophy 2 [RCV001130121]|Leber congenital amaurosis 7 [RCV001135155]|Retinitis pigmentosa [RCV001135154] Chr19:47843066 [GRCh38]
Chr19:48346323 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_000554.6(CRX):c.*2580G>A single nucleotide variant Cone-rod dystrophy 2 [RCV001129866]|Leber congenital amaurosis 7 [RCV001129867]|Retinitis pigmentosa [RCV001129868] Chr19:47842547 [GRCh38]
Chr19:48345804 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_000554.6(CRX):c.*2589T>C single nucleotide variant Cone-rod dystrophy 2 [RCV001130587]|Leber congenital amaurosis 7 [RCV001130586]|Retinitis pigmentosa [RCV001130585] Chr19:47842556 [GRCh38]
Chr19:48345813 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_000554.6(CRX):c.616T>C (p.Ser206Pro) single nucleotide variant Cone-rod dystrophy 2 [RCV001129008]|Leber congenital amaurosis 7 [RCV001129009]|Retinitis pigmentosa [RCV001129010] Chr19:47839683 [GRCh38]
Chr19:48342940 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_000554.6(CRX):c.522_523dup (p.Gln175fs) microsatellite Leber congenital amaurosis 7 [RCV001542503] Chr19:47839586..47839587 [GRCh38]
Chr19:48342843..48342844 [GRCh37]
Chr19:19q13.33
pathogenic
NM_000554.6(CRX):c.253-213G>C single nucleotide variant not provided [RCV001645031] Chr19:47839107 [GRCh38]
Chr19:48342364 [GRCh37]
Chr19:19q13.33
benign
NM_000554.6(CRX):c.*2343G>A single nucleotide variant Cone-rod dystrophy 2 [RCV001129787]|Leber congenital amaurosis 7 [RCV001129785]|Retinitis pigmentosa [RCV001129786] Chr19:47842310 [GRCh38]
Chr19:48345567 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_000554.6(CRX):c.139A>C (p.Thr47Pro) single nucleotide variant Retinitis pigmentosa [RCV001198956] Chr19:47836281 [GRCh38]
Chr19:48339538 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_000554.6(CRX):c.594_606del (p.Ser199fs) deletion Leber congenital amaurosis 7 [RCV001040835]|Retinal dystrophy [RCV001073684] Chr19:47839659..47839671 [GRCh38]
Chr19:48342916..48342928 [GRCh37]
Chr19:19q13.33
pathogenic|uncertain significance
NM_000554.6(CRX):c.152_153del (p.Leu51fs) deletion Leber congenital amaurosis 7 [RCV001215027] Chr19:47836294..47836295 [GRCh38]
Chr19:48339551..48339552 [GRCh37]
Chr19:19q13.33
pathogenic
NM_000554.6(CRX):c.313C>T (p.Gln105Ter) single nucleotide variant Retinal dystrophy [RCV001074883] Chr19:47839380 [GRCh38]
Chr19:48342637 [GRCh37]
Chr19:19q13.33
pathogenic
NM_000554.6(CRX):c.431_434del (p.Pro144fs) deletion Retinal dystrophy [RCV001075115] Chr19:47839497..47839500 [GRCh38]
Chr19:48342754..48342757 [GRCh37]
Chr19:19q13.33
pathogenic|likely pathogenic
NM_000554.6(CRX):c.206G>A (p.Arg69His) single nucleotide variant Leber congenital amaurosis 7 [RCV001238013]|not provided [RCV001093247] Chr19:47836348 [GRCh38]
Chr19:48339605 [GRCh37]
Chr19:19q13.33
pathogenic|uncertain significance
NM_000554.6(CRX):c.549del (p.Pro184fs) deletion Leber congenital amaurosis 7 [RCV001250586] Chr19:47839614 [GRCh38]
Chr19:48342871 [GRCh37]
Chr19:19q13.33
pathogenic
NM_000554.6(CRX):c.570del (p.Tyr191fs) deletion Leber congenital amaurosis 7 [RCV001250587] Chr19:47839633 [GRCh38]
Chr19:48342890 [GRCh37]
Chr19:19q13.33
pathogenic
NM_000554.6(CRX):c.661_*3038del (p.Tyr221fs) deletion Leber congenital amaurosis 7 [RCV001208512] Chr19:47839728..47843005 [GRCh38]
Chr19:48342985..48346262 [GRCh37]
Chr19:19q13.33
pathogenic
NM_000554.6(CRX):c.8C>T (p.Ala3Val) single nucleotide variant Leber congenital amaurosis 7 [RCV001057955] Chr19:47834451 [GRCh38]
Chr19:48337708 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_000554.6(CRX):c.400G>A (p.Asp134Asn) single nucleotide variant Cone-rod dystrophy 2 [RCV001131567]|Leber congenital amaurosis 7 [RCV001131565]|Retinitis pigmentosa [RCV001131566] Chr19:47839467 [GRCh38]
Chr19:48342724 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_000554.6(CRX):c.262_275del (p.Phe87_Lys88insTer) deletion Leber congenital amaurosis 7 [RCV001207853] Chr19:47839328..47839341 [GRCh38]
Chr19:48342585..48342598 [GRCh37]
Chr19:19q13.33
pathogenic
NM_000554.6(CRX):c.*272T>C single nucleotide variant Cone-rod dystrophy 2 [RCV001132801]|Leber congenital amaurosis 7 [RCV001132802]|Retinitis pigmentosa [RCV001132800] Chr19:47840239 [GRCh38]
Chr19:48343496 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_000554.6(CRX):c.433C>T (p.Pro145Ser) single nucleotide variant Leber congenital amaurosis 7 [RCV001205889] Chr19:47839500 [GRCh38]
Chr19:48342757 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_000554.6(CRX):c.*2611G>A single nucleotide variant Cone-rod dystrophy 2 [RCV001133531]|Leber congenital amaurosis 7 [RCV001130589]|Retinitis pigmentosa [RCV001130588] Chr19:47842578 [GRCh38]
Chr19:48345835 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_000554.6(CRX):c.128G>A (p.Arg43His) single nucleotide variant Leber congenital amaurosis 7 [RCV001228802]|not provided [RCV001544775] Chr19:47836270 [GRCh38]
Chr19:48339527 [GRCh37]
Chr19:19q13.33
pathogenic|likely pathogenic|uncertain significance
NM_000554.6(CRX):c.898T>C (p.Ter300Gln) single nucleotide variant Cone-rod dystrophy 2 [RCV001029942] Chr19:47839965 [GRCh38]
Chr19:48343222 [GRCh37]
Chr19:19q13.33
likely pathogenic
NM_000554.6(CRX):c.*727C>T single nucleotide variant Cone-rod dystrophy 2 [RCV001136330]|Leber congenital amaurosis 7 [RCV001136332]|Retinitis pigmentosa [RCV001136331] Chr19:47840694 [GRCh38]
Chr19:48343951 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_000554.6(CRX):c.407_416dup (p.Asp140fs) duplication Leber congenital amaurosis 7 [RCV001211671] Chr19:47839470..47839471 [GRCh38]
Chr19:48342727..48342728 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_000554.6(CRX):c.460A>G (p.Thr154Ala) single nucleotide variant Cone-rod dystrophy 2 [RCV001131571]|Leber congenital amaurosis 7 [RCV001132600]|Leber congenital amaurosis 7 [RCV002558276]|Retinitis pigmentosa [RCV001131570] Chr19:47839527 [GRCh38]
Chr19:48342784 [GRCh37]
Chr19:19q13.33
benign|likely benign|uncertain significance
NM_000554.6(CRX):c.437_449del (p.Leu146fs) deletion Leber congenital amaurosis 7 [RCV001379448]|Retinal dystrophy [RCV001073950] Chr19:47839498..47839510 [GRCh38]
Chr19:48342755..48342767 [GRCh37]
Chr19:19q13.33
likely pathogenic
NM_000554.6(CRX):c.*16T>C single nucleotide variant Cone-rod dystrophy 2 [RCV001132709]|Leber congenital amaurosis 7 [RCV001132707]|Retinitis pigmentosa [RCV001132708] Chr19:47839983 [GRCh38]
Chr19:48343240 [GRCh37]
Chr19:19q13.33
likely benign|uncertain significance
NM_000554.6(CRX):c.621_623delinsTT (p.Tyr208fs) indel Retinal dystrophy [RCV001074100] Chr19:47839688..47839690 [GRCh38]
Chr19:48342945..48342947 [GRCh37]
Chr19:19q13.33
likely pathogenic
NM_000554.6(CRX):c.702T>C (p.Leu234=) single nucleotide variant Leber congenital amaurosis 7 [RCV001204784] Chr19:47839769 [GRCh38]
Chr19:48343026 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_000554.6(CRX):c.*3117A>G single nucleotide variant Cone-rod dystrophy 2 [RCV001130122]|Leber congenital amaurosis 7 [RCV001130124]|Retinitis pigmentosa [RCV001130123] Chr19:47843084 [GRCh38]
Chr19:48346341 [GRCh37]
Chr19:19q13.33
benign|likely benign
NM_000554.6(CRX):c.101-1G>T single nucleotide variant Leber congenital amaurosis 7 [RCV001063855] Chr19:47836242 [GRCh38]
Chr19:48339499 [GRCh37]
Chr19:19q13.33
likely pathogenic
NM_000554.6(CRX):c.292C>T (p.Arg98Ter) single nucleotide variant Leber congenital amaurosis 7 [RCV001879957]|Retinitis pigmentosa [RCV001256189] Chr19:47839359 [GRCh38]
Chr19:48342616 [GRCh37]
Chr19:19q13.33
pathogenic|uncertain significance
NM_000554.6(CRX):c.29A>G (p.His10Arg) single nucleotide variant Usher syndrome [RCV001260906] Chr19:47834472 [GRCh38]
Chr19:48337729 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_000554.6(CRX):c.501dup (p.Glu168fs) duplication not provided [RCV001268634] Chr19:47839567..47839568 [GRCh38]
Chr19:48342824..48342825 [GRCh37]
Chr19:19q13.33
pathogenic
NM_000554.6(CRX):c.790G>A (p.Val264Met) single nucleotide variant Leber congenital amaurosis 7 [RCV001963840] Chr19:47839857 [GRCh38]
Chr19:48343114 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_000554.6(CRX):c.443del (p.Gly148fs) deletion Leber congenital amaurosis [RCV001262103] Chr19:47839509 [GRCh38]
Chr19:48342766 [GRCh37]
Chr19:19q13.33
pathogenic
NM_000554.6(CRX):c.127C>A (p.Arg43Ser) single nucleotide variant Leber congenital amaurosis 7 [RCV001352222] Chr19:47836269 [GRCh38]
Chr19:48339526 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_000554.6(CRX):c.626G>A (p.Gly209Glu) single nucleotide variant Leber congenital amaurosis 7 [RCV001324861] Chr19:47839693 [GRCh38]
Chr19:48342950 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_000554.6(CRX):c.263A>G (p.Lys88Arg) single nucleotide variant Cone-rod dystrophy 2 [RCV003447588]|Leber congenital amaurosis 7 [RCV001320521]|Retinitis pigmentosa [RCV001587340]|not provided [RCV001532383] Chr19:47839330 [GRCh38]
Chr19:48342587 [GRCh37]
Chr19:19q13.33
pathogenic|likely pathogenic|uncertain significance
NM_000554.6(CRX):c.485T>C (p.Ile162Thr) single nucleotide variant Leber congenital amaurosis 7 [RCV001318075] Chr19:47839552 [GRCh38]
Chr19:48342809 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_000554.6(CRX):c.593C>T (p.Ala198Val) single nucleotide variant Leber congenital amaurosis 7 [RCV001343143] Chr19:47839660 [GRCh38]
Chr19:48342917 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_000554.6(CRX):c.590del (p.Pro197fs) deletion Leber congenital amaurosis 7 [RCV001925009]|Stargardt disease [RCV002466710] Chr19:47839654 [GRCh38]
Chr19:48342911 [GRCh37]
Chr19:19q13.33
pathogenic|likely pathogenic|uncertain significance
NM_000554.6(CRX):c.740C>T (p.Ala247Val) single nucleotide variant Leber congenital amaurosis 7 [RCV001309174] Chr19:47839807 [GRCh38]
Chr19:48343064 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_000554.6(CRX):c.426C>A (p.Tyr142Ter) single nucleotide variant Leber congenital amaurosis 7 [RCV001341159] Chr19:47839493 [GRCh38]
Chr19:48342750 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_000554.6(CRX):c.42C>T (p.Asn14=) single nucleotide variant Leber congenital amaurosis 7 [RCV001396700] Chr19:47834485 [GRCh38]
Chr19:48337742 [GRCh37]
Chr19:19q13.33
likely benign
NM_000554.6(CRX):c.83A>G (p.Gln28Arg) single nucleotide variant Leber congenital amaurosis 7 [RCV001370444] Chr19:47834526 [GRCh38]
Chr19:48337783 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_000554.6(CRX):c.688G>C (p.Gly230Arg) single nucleotide variant Leber congenital amaurosis 7 [RCV001362598] Chr19:47839755 [GRCh38]
Chr19:48343012 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_000554.6(CRX):c.798del (p.Leu267fs) deletion Leber congenital amaurosis 7 [RCV001362092] Chr19:47839865 [GRCh38]
Chr19:48343122 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_000554.6(CRX):c.203C>T (p.Ala68Val) single nucleotide variant Leber congenital amaurosis 7 [RCV001361102] Chr19:47836345 [GRCh38]
Chr19:48339602 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_000554.6(CRX):c.660dup (p.Tyr221fs) duplication Leber congenital amaurosis 7 [RCV001312312] Chr19:47839723..47839724 [GRCh38]
Chr19:48342980..48342981 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_000554.6(CRX):c.513G>C (p.Leu171Phe) single nucleotide variant Leber congenital amaurosis 7 [RCV001373693] Chr19:47839580 [GRCh38]
Chr19:48342837 [GRCh37]
Chr19:19q13.33
uncertain significance
NC_000019.9:g.(?_48342557)_(48343224_?)del deletion Leber congenital amaurosis 7 [RCV001364796] Chr19:48342557..48343224 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_000554.6(CRX):c.21G>A (p.Pro7=) single nucleotide variant Leber congenital amaurosis 7 [RCV001339805] Chr19:47834464 [GRCh38]
Chr19:48337721 [GRCh37]
Chr19:19q13.33
likely benign|uncertain significance
NM_000554.6(CRX):c.262A>G (p.Lys88Glu) single nucleotide variant Leber congenital amaurosis 7 [RCV001342164] Chr19:47839329 [GRCh38]
Chr19:48342586 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_000554.6(CRX):c.778G>A (p.Ala260Thr) single nucleotide variant Leber congenital amaurosis 7 [RCV001365043] Chr19:47839845 [GRCh38]
Chr19:48343102 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_000554.6(CRX):c.76_80del (p.Met26fs) deletion Leber congenital amaurosis 7 [RCV001365217] Chr19:47834519..47834523 [GRCh38]
Chr19:48337776..48337780 [GRCh37]
Chr19:19q13.33
pathogenic|uncertain significance
NM_000554.6(CRX):c.713C>A (p.Ser238Tyr) single nucleotide variant Leber congenital amaurosis 7 [RCV001341176] Chr19:47839780 [GRCh38]
Chr19:48343037 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_000554.6(CRX):c.11A>G (p.Tyr4Cys) single nucleotide variant Leber congenital amaurosis 7 [RCV001323352] Chr19:47834454 [GRCh38]
Chr19:48337711 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_000554.6(CRX):c.22G>C (p.Gly8Arg) single nucleotide variant Leber congenital amaurosis 7 [RCV001345352] Chr19:47834465 [GRCh38]
Chr19:48337722 [GRCh37]
Chr19:19q13.33
likely benign|uncertain significance
NM_000554.6(CRX):c.592del (p.Ala198fs) deletion Leber congenital amaurosis 7 [RCV001347754] Chr19:47839658 [GRCh38]
Chr19:48342915 [GRCh37]
Chr19:19q13.33
uncertain significance
NC_000019.9:g.(?_48337701)_(48339651_?)del deletion Leber congenital amaurosis 7 [RCV001308059] Chr19:48337701..48339651 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_000554.6(CRX):c.841A>G (p.Asn281Asp) single nucleotide variant Leber congenital amaurosis 7 [RCV001359665] Chr19:47839908 [GRCh38]
Chr19:48343165 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_000554.6(CRX):c.323del (p.Pro108fs) deletion Leber congenital amaurosis 7 [RCV001338120] Chr19:47839386 [GRCh38]
Chr19:48342643 [GRCh37]
Chr19:19q13.33
uncertain significance
NC_000019.9:g.(?_48337701)_(48343224_?)del deletion Leber congenital amaurosis 7 [RCV001350984] Chr19:48337701..48343224 [GRCh37]
Chr19:19q13.33
pathogenic|uncertain significance
NM_000554.6(CRX):c.439C>T (p.Pro147Ser) single nucleotide variant Leber congenital amaurosis 7 [RCV001359494] Chr19:47839506 [GRCh38]
Chr19:48342763 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_000554.6(CRX):c.871C>T (p.Gln291Ter) single nucleotide variant Leber congenital amaurosis 7 [RCV001367300] Chr19:47839938 [GRCh38]
Chr19:48343195 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_000554.6(CRX):c.806_809dup (p.Lys270fs) duplication Leber congenital amaurosis 7 [RCV001368920] Chr19:47839872..47839873 [GRCh38]
Chr19:48343129..48343130 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_000554.6(CRX):c.728dup (p.Pro244fs) duplication Leber congenital amaurosis 7 [RCV001300693] Chr19:47839792..47839793 [GRCh38]
Chr19:48343049..48343050 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_000554.6(CRX):c.852C>T (p.Asp284=) single nucleotide variant Leber congenital amaurosis 7 [RCV001396478] Chr19:47839919 [GRCh38]
Chr19:48343176 [GRCh37]
Chr19:19q13.33
likely benign
NM_000554.6(CRX):c.309G>A (p.Gln103=) single nucleotide variant Leber congenital amaurosis 7 [RCV001450207] Chr19:47839376 [GRCh38]
Chr19:48342633 [GRCh37]
Chr19:19q13.33
likely benign
NM_000554.6(CRX):c.794A>T (p.Asp265Val) single nucleotide variant Leber congenital amaurosis 7 [RCV001365909] Chr19:47839861 [GRCh38]
Chr19:48343118 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_000554.6(CRX):c.159G>A (p.Glu53=) single nucleotide variant Leber congenital amaurosis 7 [RCV001474135] Chr19:47836301 [GRCh38]
Chr19:48339558 [GRCh37]
Chr19:19q13.33
likely benign
NM_000554.6(CRX):c.846C>A (p.Pro282=) single nucleotide variant Leber congenital amaurosis 7 [RCV001485431] Chr19:47839913 [GRCh38]
Chr19:48343170 [GRCh37]
Chr19:19q13.33
likely benign
NM_000554.6(CRX):c.522G>A (p.Ala174=) single nucleotide variant Leber congenital amaurosis 7 [RCV001406095] Chr19:47839589 [GRCh38]
Chr19:48342846 [GRCh37]
Chr19:19q13.33
likely benign
NM_000554.6(CRX):c.720C>G (p.Pro240=) single nucleotide variant Leber congenital amaurosis 7 [RCV001487615] Chr19:47839787 [GRCh38]
Chr19:48343044 [GRCh37]
Chr19:19q13.33
likely benign
NM_000554.6(CRX):c.585C>T (p.Tyr195=) single nucleotide variant Leber congenital amaurosis 7 [RCV001426974] Chr19:47839652 [GRCh38]
Chr19:48342909 [GRCh37]
Chr19:19q13.33
likely benign
NM_000554.6(CRX):c.100+13G>A single nucleotide variant Leber congenital amaurosis 7 [RCV001474780] Chr19:47834556 [GRCh38]
Chr19:48337813 [GRCh37]
Chr19:19q13.33
likely benign
NC_000019.9:g.(?_48339500)_(48343224_?)del deletion Leber congenital amaurosis 7 [RCV001384228] Chr19:48339500..48343224 [GRCh37]
Chr19:19q13.33
pathogenic
NC_000019.9:g.(?_48342985)_48346262del deletion Leber congenital amaurosis 7 [RCV001384229]   pathogenic
NM_000554.6(CRX):c.876T>C (p.Ser292=) single nucleotide variant Leber congenital amaurosis 7 [RCV001409390] Chr19:47839943 [GRCh38]
Chr19:48343200 [GRCh37]
Chr19:19q13.33
likely benign
NM_000554.6(CRX):c.856C>T (p.Leu286=) single nucleotide variant Leber congenital amaurosis 7 [RCV001449103] Chr19:47839923 [GRCh38]
Chr19:48343180 [GRCh37]
Chr19:19q13.33
likely benign
NM_000554.6(CRX):c.252+203T>A single nucleotide variant not provided [RCV001695084] Chr19:47836597 [GRCh38]
Chr19:48339854 [GRCh37]
Chr19:19q13.33
benign
NM_000554.6(CRX):c.363G>A (p.Ala121=) single nucleotide variant Leber congenital amaurosis 7 [RCV001476270] Chr19:47839430 [GRCh38]
Chr19:48342687 [GRCh37]
Chr19:19q13.33
likely benign
NM_000554.6(CRX):c.339G>A (p.Lys113=) single nucleotide variant Leber congenital amaurosis 7 [RCV001487371] Chr19:47839406 [GRCh38]
Chr19:48342663 [GRCh37]
Chr19:19q13.33
likely benign
NM_000554.6(CRX):c.537G>A (p.Leu179=) single nucleotide variant Leber congenital amaurosis 7 [RCV001454169] Chr19:47839604 [GRCh38]
Chr19:48342861 [GRCh37]
Chr19:19q13.33
likely benign
NM_000554.6(CRX):c.552G>A (p.Pro184=) single nucleotide variant Leber congenital amaurosis 7 [RCV001468846] Chr19:47839619 [GRCh38]
Chr19:48342876 [GRCh37]
Chr19:19q13.33
likely benign
NM_000554.6(CRX):c.564C>T (p.Ser188=) single nucleotide variant Leber congenital amaurosis 7 [RCV001500571] Chr19:47839631 [GRCh38]
Chr19:48342888 [GRCh37]
Chr19:19q13.33
likely benign
NM_000554.6(CRX):c.564del (p.Ala189fs) deletion Leber congenital amaurosis 7 [RCV001526718] Chr19:47839630 [GRCh38]
Chr19:48342887 [GRCh37]
Chr19:19q13.33
pathogenic
NM_000554.6(CRX):c.734C>A (p.Ser245Tyr) single nucleotide variant not provided [RCV001767045] Chr19:47839801 [GRCh38]
Chr19:48343058 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_000554.6(CRX):c.893T>A (p.Ile298Asn) single nucleotide variant Leber congenital amaurosis 7 [RCV001947363] Chr19:47839960 [GRCh38]
Chr19:48343217 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_000554.6(CRX):c.442G>C (p.Gly148Arg) single nucleotide variant Leber congenital amaurosis 7 [RCV001988291] Chr19:47839509 [GRCh38]
Chr19:48342766 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_000554.6(CRX):c.632C>T (p.Pro211Leu) single nucleotide variant Leber congenital amaurosis 7 [RCV002025055] Chr19:47839699 [GRCh38]
Chr19:48342956 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_000554.6(CRX):c.774T>A (p.Tyr258Ter) single nucleotide variant Leber congenital amaurosis 7 [RCV001985814] Chr19:47839841 [GRCh38]
Chr19:48343098 [GRCh37]
Chr19:19q13.33
likely pathogenic
NM_000554.6(CRX):c.43G>A (p.Ala15Thr) single nucleotide variant Leber congenital amaurosis 7 [RCV001910272] Chr19:47834486 [GRCh38]
Chr19:48337743 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_000554.6(CRX):c.324del (p.Gly110fs) deletion Leber congenital amaurosis 7 [RCV001864367] Chr19:47839391 [GRCh38]
Chr19:48342648 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_000554.6(CRX):c.526C>G (p.Arg176Gly) single nucleotide variant Leber congenital amaurosis 7 [RCV002025171] Chr19:47839593 [GRCh38]
Chr19:48342850 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_000554.6(CRX):c.526C>T (p.Arg176Trp) single nucleotide variant Leber congenital amaurosis 7 [RCV002024592] Chr19:47839593 [GRCh38]
Chr19:48342850 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_000554.6(CRX):c.649G>A (p.Gly217Ser) single nucleotide variant Inborn genetic diseases [RCV003264156]|Leber congenital amaurosis 7 [RCV001894872] Chr19:47839716 [GRCh38]
Chr19:48342973 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_000554.6(CRX):c.377G>A (p.Arg126Lys) single nucleotide variant Leber congenital amaurosis 7 [RCV001928100] Chr19:47839444 [GRCh38]
Chr19:48342701 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_000554.6(CRX):c.311A>G (p.Gln104Arg) single nucleotide variant Leber congenital amaurosis 7 [RCV002005846] Chr19:47839378 [GRCh38]
Chr19:48342635 [GRCh37]
Chr19:19q13.33
uncertain significance
NC_000019.9:g.(?_48337701)_(48725132_?)dup duplication Leber congenital amaurosis 7 [RCV002004465] Chr19:48337701..48725132 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_000554.6(CRX):c.673A>C (p.Met225Leu) single nucleotide variant Leber congenital amaurosis 7 [RCV001983091] Chr19:47839740 [GRCh38]
Chr19:48342997 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_000554.6(CRX):c.365del (p.Gly122fs) deletion Leber congenital amaurosis 7 [RCV001927127] Chr19:47839430 [GRCh38]
Chr19:48342687 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_000554.6(CRX):c.501del (p.Glu168fs) deletion Leber congenital amaurosis 7 [RCV001966147] Chr19:47839568 [GRCh38]
Chr19:48342825 [GRCh37]
Chr19:19q13.33
uncertain significance
GRCh37/hg19 19q13.33(chr19:48334930-48402210) copy number loss not specified [RCV002052688] Chr19:48334930..48402210 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_000554.6(CRX):c.176_177del (p.Ala59fs) deletion Leber congenital amaurosis 7 [RCV001926782] Chr19:47836318..47836319 [GRCh38]
Chr19:48339575..48339576 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_000554.6(CRX):c.793G>T (p.Asp265Tyr) single nucleotide variant Leber congenital amaurosis 7 [RCV001911795] Chr19:47839860 [GRCh38]
Chr19:48343117 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_000554.6(CRX):c.274G>C (p.Ala92Pro) single nucleotide variant Leber congenital amaurosis 7 [RCV001911194] Chr19:47839341 [GRCh38]
Chr19:48342598 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_000554.6(CRX):c.42C>A (p.Asn14Lys) single nucleotide variant Leber congenital amaurosis 7 [RCV002038047] Chr19:47834485 [GRCh38]
Chr19:48337742 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_000554.6(CRX):c.377del (p.Arg126fs) deletion Leber congenital amaurosis 7 [RCV001900354] Chr19:47839444 [GRCh38]
Chr19:48342701 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_000554.6(CRX):c.25C>T (p.Pro9Ser) single nucleotide variant Leber congenital amaurosis 7 [RCV002000899] Chr19:47834468 [GRCh38]
Chr19:48337725 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_000554.6(CRX):c.196G>T (p.Val66Phe) single nucleotide variant Leber congenital amaurosis 7 [RCV002001280] Chr19:47836338 [GRCh38]
Chr19:48339595 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_000554.6(CRX):c.750del (p.Thr251fs) deletion Leber congenital amaurosis 7 [RCV001940419] Chr19:47839813 [GRCh38]
Chr19:48343070 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_000554.6(CRX):c.619G>A (p.Ala207Thr) single nucleotide variant Leber congenital amaurosis 7 [RCV002000731] Chr19:47839686 [GRCh38]
Chr19:48342943 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_000554.6(CRX):c.128G>T (p.Arg43Leu) single nucleotide variant Leber congenital amaurosis 7 [RCV002029275] Chr19:47836270 [GRCh38]
Chr19:48339527 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_000554.6(CRX):c.565G>A (p.Ala189Thr) single nucleotide variant Leber congenital amaurosis 7 [RCV001920351] Chr19:47839632 [GRCh38]
Chr19:48342889 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_000554.6(CRX):c.587C>T (p.Ala196Val) single nucleotide variant Leber congenital amaurosis 7 [RCV002050607] Chr19:47839654 [GRCh38]
Chr19:48342911 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_000554.6(CRX):c.226A>T (p.Ile76Phe) single nucleotide variant Leber congenital amaurosis 7 [RCV001993930] Chr19:47836368 [GRCh38]
Chr19:48339625 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_000554.6(CRX):c.790G>T (p.Val264Leu) single nucleotide variant Leber congenital amaurosis 7 [RCV001975511] Chr19:47839857 [GRCh38]
Chr19:48343114 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_000554.6(CRX):c.142C>T (p.Arg48Trp) single nucleotide variant Leber congenital amaurosis 7 [RCV001932777] Chr19:47836284 [GRCh38]
Chr19:48339541 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_000554.6(CRX):c.125_128dup (p.Thr44fs) duplication Leber congenital amaurosis 7 [RCV001881843] Chr19:47836265..47836266 [GRCh38]
Chr19:48339522..48339523 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_000554.6(CRX):c.521C>T (p.Ala174Val) single nucleotide variant Leber congenital amaurosis 7 [RCV001903458] Chr19:47839588 [GRCh38]
Chr19:48342845 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_000554.6(CRX):c.624T>G (p.Tyr208Ter) single nucleotide variant Leber congenital amaurosis 7 [RCV001991880] Chr19:47839691 [GRCh38]
Chr19:48342948 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_000554.6(CRX):c.806T>A (p.Phe269Tyr) single nucleotide variant Leber congenital amaurosis 7 [RCV001918822] Chr19:47839873 [GRCh38]
Chr19:48343130 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_000554.6(CRX):c.349G>A (p.Ala117Thr) single nucleotide variant Leber congenital amaurosis 7 [RCV001870266] Chr19:47839416 [GRCh38]
Chr19:48342673 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_000554.6(CRX):c.60C>G (p.Gly20=) single nucleotide variant Leber congenital amaurosis 7 [RCV002019302] Chr19:47834503 [GRCh38]
Chr19:48337760 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_000554.6(CRX):c.415T>G (p.Ser139Ala) single nucleotide variant Leber congenital amaurosis 7 [RCV001885662] Chr19:47839482 [GRCh38]
Chr19:48342739 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_000554.6(CRX):c.726G>A (p.Val242=) single nucleotide variant Leber congenital amaurosis 7 [RCV002029430] Chr19:47839793 [GRCh38]
Chr19:48343050 [GRCh37]
Chr19:19q13.33
likely benign|uncertain significance
NC_000019.9:g.(?_48337701)_(48339671_?)dup duplication Leber congenital amaurosis 7 [RCV001981841] Chr19:48337701..48339671 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_000554.6(CRX):c.225G>T (p.Lys75Asn) single nucleotide variant Leber congenital amaurosis 7 [RCV001867610] Chr19:47836367 [GRCh38]
Chr19:48339624 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_000554.6(CRX):c.20C>T (p.Pro7Leu) single nucleotide variant Leber congenital amaurosis 7 [RCV001990192] Chr19:47834463 [GRCh38]
Chr19:48337720 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_000554.6(CRX):c.494del (p.Pro165fs) deletion Leber congenital amaurosis 7 [RCV001974438] Chr19:47839559 [GRCh38]
Chr19:48342816 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_000554.6(CRX):c.509del (p.Pro170fs) deletion Leber congenital amaurosis 7 [RCV001864785] Chr19:47839573 [GRCh38]
Chr19:48342830 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_000554.6(CRX):c.783C>G (p.Tyr261Ter) single nucleotide variant Leber congenital amaurosis 7 [RCV002013505] Chr19:47839850 [GRCh38]
Chr19:48343107 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_000554.6(CRX):c.578T>A (p.Met193Lys) single nucleotide variant Leber congenital amaurosis 7 [RCV002047490] Chr19:47839645 [GRCh38]
Chr19:48342902 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_000554.6(CRX):c.533G>C (p.Gly178Ala) single nucleotide variant Leber congenital amaurosis 7 [RCV001930438] Chr19:47839600 [GRCh38]
Chr19:48342857 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_000554.6(CRX):c.140C>T (p.Thr47Ile) single nucleotide variant Inborn genetic diseases [RCV003264299]|Leber congenital amaurosis 7 [RCV001972092] Chr19:47836282 [GRCh38]
Chr19:48339539 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_000554.6(CRX):c.404C>G (p.Pro135Arg) single nucleotide variant Leber congenital amaurosis 7 [RCV002027940] Chr19:47839471 [GRCh38]
Chr19:48342728 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_000554.6(CRX):c.182C>T (p.Thr61Ile) single nucleotide variant Leber congenital amaurosis 7 [RCV002033569] Chr19:47836324 [GRCh38]
Chr19:48339581 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_000554.6(CRX):c.560C>T (p.Thr187Ile) single nucleotide variant Leber congenital amaurosis 7 [RCV001905659] Chr19:47839627 [GRCh38]
Chr19:48342884 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_000554.6(CRX):c.381del (p.Ser128fs) deletion Leber congenital amaurosis 7 [RCV001924970] Chr19:47839446 [GRCh38]
Chr19:48342703 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_000554.6(CRX):c.463dup (p.Thr155fs) duplication Leber congenital amaurosis 7 [RCV001924859] Chr19:47839529..47839530 [GRCh38]
Chr19:48342786..48342787 [GRCh37]
Chr19:19q13.33
likely pathogenic|uncertain significance
NM_000554.6(CRX):c.108del (p.Arg37fs) deletion Leber congenital amaurosis 7 [RCV001972914] Chr19:47836246 [GRCh38]
Chr19:48339503 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_000554.6(CRX):c.597del (p.Ala200fs) deletion Leber congenital amaurosis 7 [RCV002013147] Chr19:47839663 [GRCh38]
Chr19:48342920 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_000554.6(CRX):c.412A>G (p.Ile138Val) single nucleotide variant Inborn genetic diseases [RCV002545377]|Leber congenital amaurosis 7 [RCV002051059] Chr19:47839479 [GRCh38]
Chr19:48342736 [GRCh37]
Chr19:19q13.33
uncertain significance
NC_000019.9:g.(?_48342557)_(48343224_?)dup duplication Leber congenital amaurosis 7 [RCV001916120] Chr19:48342557..48343224 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_000554.6(CRX):c.645C>T (p.Phe215=) single nucleotide variant Leber congenital amaurosis 7 [RCV002109861] Chr19:47839712 [GRCh38]
Chr19:48342969 [GRCh37]
Chr19:19q13.33
benign
NM_000554.6(CRX):c.81C>T (p.His27=) single nucleotide variant Leber congenital amaurosis 7 [RCV002092439] Chr19:47834524 [GRCh38]
Chr19:48337781 [GRCh37]
Chr19:19q13.33
likely benign
NM_000554.6(CRX):c.253-16C>T single nucleotide variant Leber congenital amaurosis 7 [RCV002106712] Chr19:47839304 [GRCh38]
Chr19:48342561 [GRCh37]
Chr19:19q13.33
likely benign
NM_000554.6(CRX):c.9G>A (p.Ala3=) single nucleotide variant Leber congenital amaurosis 7 [RCV002090805] Chr19:47834452 [GRCh38]
Chr19:48337709 [GRCh37]
Chr19:19q13.33
likely benign
NM_000554.6(CRX):c.253-11T>C single nucleotide variant Leber congenital amaurosis 7 [RCV002167303] Chr19:47839309 [GRCh38]
Chr19:48342566 [GRCh37]
Chr19:19q13.33
likely benign
NM_000554.6(CRX):c.216G>A (p.Val72=) single nucleotide variant Leber congenital amaurosis 7 [RCV002170404] Chr19:47836358 [GRCh38]
Chr19:48339615 [GRCh37]
Chr19:19q13.33
likely benign
NM_000554.6(CRX):c.774T>C (p.Tyr258=) single nucleotide variant Leber congenital amaurosis 7 [RCV002206562] Chr19:47839841 [GRCh38]
Chr19:48343098 [GRCh37]
Chr19:19q13.33
likely benign
NM_000554.6(CRX):c.789C>T (p.Pro263=) single nucleotide variant Leber congenital amaurosis 7 [RCV002149482] Chr19:47839856 [GRCh38]
Chr19:48343113 [GRCh37]
Chr19:19q13.33
likely benign
NM_000554.6(CRX):c.696G>A (p.Pro232=) single nucleotide variant Leber congenital amaurosis 7 [RCV002080455] Chr19:47839763 [GRCh38]
Chr19:48343020 [GRCh37]
Chr19:19q13.33
likely benign
NM_000554.6(CRX):c.195C>T (p.Asp65=) single nucleotide variant Leber congenital amaurosis 7 [RCV002116312] Chr19:47836337 [GRCh38]
Chr19:48339594 [GRCh37]
Chr19:19q13.33
likely benign
NM_000554.6(CRX):c.747C>G (p.Ser249=) single nucleotide variant Leber congenital amaurosis 7 [RCV002116610] Chr19:47839814 [GRCh38]
Chr19:48343071 [GRCh37]
Chr19:19q13.33
likely benign
NM_000554.6(CRX):c.252+18_252+24del deletion Leber congenital amaurosis 7 [RCV002202633] Chr19:47836409..47836415 [GRCh38]
Chr19:48339666..48339672 [GRCh37]
Chr19:19q13.33
likely benign
NM_000554.6(CRX):c.369G>A (p.Thr123=) single nucleotide variant Leber congenital amaurosis 7 [RCV002216457] Chr19:47839436 [GRCh38]
Chr19:48342693 [GRCh37]
Chr19:19q13.33
likely benign
NM_000554.6(CRX):c.345G>A (p.Arg115=) single nucleotide variant Leber congenital amaurosis 7 [RCV002201520] Chr19:47839412 [GRCh38]
Chr19:48342669 [GRCh37]
Chr19:19q13.33
likely benign
NM_000554.6(CRX):c.101-6C>T single nucleotide variant Leber congenital amaurosis 7 [RCV002163876] Chr19:47836237 [GRCh38]
Chr19:48339494 [GRCh37]
Chr19:19q13.33
likely benign
NM_000554.6(CRX):c.690G>T (p.Gly230=) single nucleotide variant Leber congenital amaurosis 7 [RCV002155654] Chr19:47839757 [GRCh38]
Chr19:48343014 [GRCh37]
Chr19:19q13.33
likely benign
NM_000554.6(CRX):c.648C>T (p.Ser216=) single nucleotide variant Leber congenital amaurosis 7 [RCV002176969] Chr19:47839715 [GRCh38]
Chr19:48342972 [GRCh37]
Chr19:19q13.33
likely benign
NM_000554.6(CRX):c.441C>T (p.Pro147=) single nucleotide variant Leber congenital amaurosis 7 [RCV002136139] Chr19:47839508 [GRCh38]
Chr19:48342765 [GRCh37]
Chr19:19q13.33
likely benign
NM_000554.6(CRX):c.462C>T (p.Thr154=) single nucleotide variant Leber congenital amaurosis 7 [RCV002180437] Chr19:47839529 [GRCh38]
Chr19:48342786 [GRCh37]
Chr19:19q13.33
likely benign
NM_000554.6(CRX):c.594C>T (p.Ala198=) single nucleotide variant Leber congenital amaurosis 7 [RCV002101602] Chr19:47839661 [GRCh38]
Chr19:48342918 [GRCh37]
Chr19:19q13.33
likely benign
NM_000554.6(CRX):c.372C>A (p.Ser124=) single nucleotide variant Leber congenital amaurosis 7 [RCV002176745] Chr19:47839439 [GRCh38]
Chr19:48342696 [GRCh37]
Chr19:19q13.33
likely benign
NM_000554.6(CRX):c.133A>G (p.Thr45Ala) single nucleotide variant Leber congenital amaurosis 7 [RCV003112649] Chr19:47836275 [GRCh38]
Chr19:48339532 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_000554.6(CRX):c.545C>G (p.Ser182Ter) single nucleotide variant Cone-rod dystrophy 2 [RCV002249841]|Leber congenital amaurosis 7 [RCV003094022] Chr19:47839612 [GRCh38]
Chr19:48342869 [GRCh37]
Chr19:19q13.33
pathogenic|likely pathogenic
NM_000554.6(CRX):c.586_587del (p.Ala196fs) deletion Cone-rod dystrophy 2 [RCV002249842] Chr19:47839652..47839653 [GRCh38]
Chr19:48342909..48342910 [GRCh37]
Chr19:19q13.33
pathogenic
NM_000554.6(CRX):c.106C>T (p.Pro36Ser) single nucleotide variant Leber congenital amaurosis 7 [RCV002305159] Chr19:47836248 [GRCh38]
Chr19:48339505 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_000554.6(CRX):c.109A>C (p.Arg37=) single nucleotide variant Leber congenital amaurosis 7 [RCV002685605] Chr19:47836251 [GRCh38]
Chr19:48339508 [GRCh37]
Chr19:19q13.33
likely benign
NM_000554.6(CRX):c.678G>A (p.Val226=) single nucleotide variant Leber congenital amaurosis 7 [RCV002971207] Chr19:47839745 [GRCh38]
Chr19:48343002 [GRCh37]
Chr19:19q13.33
likely benign
NM_000554.6(CRX):c.575C>A (p.Ala192Asp) single nucleotide variant Leber congenital amaurosis 7 [RCV002775322] Chr19:47839642 [GRCh38]
Chr19:48342899 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_000554.6(CRX):c.281G>A (p.Cys94Tyr) single nucleotide variant Leber congenital amaurosis 7 [RCV002843056] Chr19:47839348 [GRCh38]
Chr19:48342605 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_000554.6(CRX):c.543C>A (p.Ala181=) single nucleotide variant Leber congenital amaurosis 7 [RCV002842266] Chr19:47839610 [GRCh38]
Chr19:48342867 [GRCh37]
Chr19:19q13.33
likely benign
NM_000554.6(CRX):c.116_127del (p.Gln39_Glu42del) deletion Leber congenital amaurosis 7 [RCV002839076] Chr19:47836255..47836266 [GRCh38]
Chr19:48339512..48339523 [GRCh37]
Chr19:19q13.33
pathogenic|uncertain significance
NM_000554.6(CRX):c.685C>A (p.Leu229Ile) single nucleotide variant Inborn genetic diseases [RCV002686943] Chr19:47839752 [GRCh38]
Chr19:48343009 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_000554.6(CRX):c.555T>A (p.Ser185=) single nucleotide variant Leber congenital amaurosis 7 [RCV002881666] Chr19:47839622 [GRCh38]
Chr19:48342879 [GRCh37]
Chr19:19q13.33
likely benign
NM_000554.6(CRX):c.755C>T (p.Ser252Phe) single nucleotide variant Leber congenital amaurosis 7 [RCV002947504] Chr19:47839822 [GRCh38]
Chr19:48343079 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_000554.6(CRX):c.198C>T (p.Val66=) single nucleotide variant Leber congenital amaurosis 7 [RCV003013351] Chr19:47836340 [GRCh38]
Chr19:48339597 [GRCh37]
Chr19:19q13.33
likely benign
NM_000554.6(CRX):c.799T>G (p.Leu267Val) single nucleotide variant Leber congenital amaurosis 7 [RCV002638805] Chr19:47839866 [GRCh38]
Chr19:48343123 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_000554.6(CRX):c.675G>C (p.Met225Ile) single nucleotide variant Leber congenital amaurosis 7 [RCV003020810] Chr19:47839742 [GRCh38]
Chr19:48342999 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_000554.6(CRX):c.773A>G (p.Tyr258Cys) single nucleotide variant Leber congenital amaurosis 7 [RCV003039621] Chr19:47839840 [GRCh38]
Chr19:48343097 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_000554.6(CRX):c.777C>T (p.Gly259=) single nucleotide variant Leber congenital amaurosis 7 [RCV003081281] Chr19:47839844 [GRCh38]
Chr19:48343101 [GRCh37]
Chr19:19q13.33
likely benign
NM_000554.6(CRX):c.844C>T (p.Pro282Ser) single nucleotide variant Leber congenital amaurosis 7 [RCV003039124] Chr19:47839911 [GRCh38]
Chr19:48343168 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_000554.6(CRX):c.714del (p.Gly239fs) deletion Leber congenital amaurosis 7 [RCV002885281] Chr19:47839781 [GRCh38]
Chr19:48343038 [GRCh37]
Chr19:19q13.33
pathogenic|uncertain significance
NM_000554.6(CRX):c.240G>A (p.Glu80=) single nucleotide variant Leber congenital amaurosis 7 [RCV002622811] Chr19:47836382 [GRCh38]
Chr19:48339639 [GRCh37]
Chr19:19q13.33
likely benign
NM_000554.6(CRX):c.213G>A (p.Glu71=) single nucleotide variant Leber congenital amaurosis 7 [RCV002637976] Chr19:47836355 [GRCh38]
Chr19:48339612 [GRCh37]
Chr19:19q13.33
likely benign
NM_000554.6(CRX):c.211G>A (p.Glu71Lys) single nucleotide variant Leber congenital amaurosis 7 [RCV002637767] Chr19:47836353 [GRCh38]
Chr19:48339610 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_000554.6(CRX):c.60C>T (p.Gly20=) single nucleotide variant Leber congenital amaurosis 7 [RCV002979394] Chr19:47834503 [GRCh38]
Chr19:48337760 [GRCh37]
Chr19:19q13.33
likely benign
NM_000554.6(CRX):c.101-10C>T single nucleotide variant Leber congenital amaurosis 7 [RCV003019901] Chr19:47836233 [GRCh38]
Chr19:48339490 [GRCh37]
Chr19:19q13.33
likely benign
NM_000554.6(CRX):c.863A>G (p.Tyr288Cys) single nucleotide variant Leber congenital amaurosis 7 [RCV003053193] Chr19:47839930 [GRCh38]
Chr19:48343187 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_000554.6(CRX):c.119G>C (p.Arg40Pro) single nucleotide variant Leber congenital amaurosis 7 [RCV002885697] Chr19:47836261 [GRCh38]
Chr19:48339518 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_000554.6(CRX):c.532G>C (p.Gly178Arg) single nucleotide variant Inborn genetic diseases [RCV002706822] Chr19:47839599 [GRCh38]
Chr19:48342856 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_000554.6(CRX):c.89T>A (p.Val30Glu) single nucleotide variant Leber congenital amaurosis 7 [RCV003054109] Chr19:47834532 [GRCh38]
Chr19:48337789 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_000554.6(CRX):c.488G>A (p.Trp163Ter) single nucleotide variant Leber congenital amaurosis 7 [RCV003038465] Chr19:47839555 [GRCh38]
Chr19:48342812 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_000554.6(CRX):c.85G>A (p.Ala29Thr) single nucleotide variant Leber congenital amaurosis 7 [RCV003079373] Chr19:47834528 [GRCh38]
Chr19:48337785 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_000554.6(CRX):c.786C>T (p.Ser262=) single nucleotide variant Leber congenital amaurosis 7 [RCV003038422] Chr19:47839853 [GRCh38]
Chr19:48343110 [GRCh37]
Chr19:19q13.33
likely benign
NM_000554.6(CRX):c.100+2T>G single nucleotide variant Leber congenital amaurosis 7 [RCV003008305] Chr19:47834545 [GRCh38]
Chr19:48337802 [GRCh37]
Chr19:19q13.33
pathogenic|uncertain significance
NM_000554.6(CRX):c.719C>T (p.Pro240Leu) single nucleotide variant Leber congenital amaurosis 7 [RCV003008308] Chr19:47839786 [GRCh38]
Chr19:48343043 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_000554.6(CRX):c.390T>C (p.Asp130=) single nucleotide variant Leber congenital amaurosis 7 [RCV003005469] Chr19:47839457 [GRCh38]
Chr19:48342714 [GRCh37]
Chr19:19q13.33
likely benign
NM_000554.6(CRX):c.205C>G (p.Arg69Gly) single nucleotide variant Leber congenital amaurosis 7 [RCV003056494] Chr19:47836347 [GRCh38]
Chr19:48339604 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_000554.6(CRX):c.633G>A (p.Pro211=) single nucleotide variant Leber congenital amaurosis 7 [RCV002805511] Chr19:47839700 [GRCh38]
Chr19:48342957 [GRCh37]
Chr19:19q13.33
likely benign
NM_000554.6(CRX):c.342C>T (p.Ala114=) single nucleotide variant Leber congenital amaurosis 7 [RCV003056699] Chr19:47839409 [GRCh38]
Chr19:48342666 [GRCh37]
Chr19:19q13.33
likely benign
NM_000554.6(CRX):c.834C>A (p.Phe278Leu) single nucleotide variant Leber congenital amaurosis 7 [RCV002828814] Chr19:47839901 [GRCh38]
Chr19:48343158 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_000554.6(CRX):c.253-1G>T single nucleotide variant Leber congenital amaurosis 7 [RCV002875945] Chr19:47839319 [GRCh38]
Chr19:48342576 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_000554.6(CRX):c.811G>A (p.Asp271Asn) single nucleotide variant Inborn genetic diseases [RCV002813166] Chr19:47839878 [GRCh38]
Chr19:48343135 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_000554.6(CRX):c.360G>A (p.Lys120=) single nucleotide variant Leber congenital amaurosis 7 [RCV003049280] Chr19:47839427 [GRCh38]
Chr19:48342684 [GRCh37]
Chr19:19q13.33
likely benign
NM_000554.6(CRX):c.541_542del (p.Ala181fs) deletion Leber congenital amaurosis 7 [RCV002812113] Chr19:47839608..47839609 [GRCh38]
Chr19:48342865..48342866 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_000554.6(CRX):c.709C>A (p.Leu237Ile) single nucleotide variant Leber congenital amaurosis 7 [RCV002651159] Chr19:47839776 [GRCh38]
Chr19:48343033 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_000554.6(CRX):c.484A>C (p.Ile162Leu) single nucleotide variant Leber congenital amaurosis 7 [RCV003061497] Chr19:47839551 [GRCh38]
Chr19:48342808 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_000554.6(CRX):c.557del (p.Leu186fs) deletion Leber congenital amaurosis 7 [RCV002962432] Chr19:47839624 [GRCh38]
Chr19:48342881 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_000554.6(CRX):c.663C>G (p.Tyr221Ter) single nucleotide variant Leber congenital amaurosis 7 [RCV003061635] Chr19:47839730 [GRCh38]
Chr19:48342987 [GRCh37]
Chr19:19q13.33
likely pathogenic
NM_000554.6(CRX):c.658C>A (p.Pro220Thr) single nucleotide variant Leber congenital amaurosis 7 [RCV003088026] Chr19:47839725 [GRCh38]
Chr19:48342982 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_000554.6(CRX):c.740C>A (p.Ala247Asp) single nucleotide variant Leber congenital amaurosis 7 [RCV002895563] Chr19:47839807 [GRCh38]
Chr19:48343064 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_000554.6(CRX):c.534G>C (p.Gly178=) single nucleotide variant Leber congenital amaurosis 7 [RCV003089287] Chr19:47839601 [GRCh38]
Chr19:48342858 [GRCh37]
Chr19:19q13.33
likely benign
NM_000554.6(CRX):c.497C>A (p.Ala166Asp) single nucleotide variant Leber congenital amaurosis 7 [RCV002631302] Chr19:47839564 [GRCh38]
Chr19:48342821 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_000554.6(CRX):c.591_594dup (p.Ser199fs) duplication Leber congenital amaurosis 7 [RCV002835327] Chr19:47839655..47839656 [GRCh38]
Chr19:48342912..48342913 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_000554.6(CRX):c.362C>T (p.Ala121Val) single nucleotide variant Leber congenital amaurosis 7 [RCV003050545] Chr19:47839429 [GRCh38]
Chr19:48342686 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_000554.6(CRX):c.695C>T (p.Pro232Leu) single nucleotide variant Leber congenital amaurosis 7 [RCV003093598] Chr19:47839762 [GRCh38]
Chr19:48343019 [GRCh37]
Chr19:19q13.33
uncertain significance
GRCh38/hg38 19q13.32-13.33(chr19:47257435-47886413)x1 copy number loss Cone-rod dystrophy 2 [RCV003327689] Chr19:47257435..47886413 [GRCh38]
Chr19:19q13.32-13.33
uncertain significance
GRCh38/hg38 19q13.33(chr19:47794370-47886413)x1 copy number loss Cone-rod dystrophy 2 [RCV003327687] Chr19:47794370..47886413 [GRCh38]
Chr19:19q13.33
uncertain significance
GRCh38/hg38 19q13.33(chr19:47834312-47840923)x1 copy number loss Cone-rod dystrophy 2 [RCV003327688] Chr19:47834312..47840923 [GRCh38]
Chr19:19q13.33
uncertain significance
NM_000554.6(CRX):c.879C>G (p.Ala293=) single nucleotide variant not provided [RCV003425299] Chr19:47839946 [GRCh38]
Chr19:48343203 [GRCh37]
Chr19:19q13.33
likely benign
NM_000554.6(CRX):c.761_804dup (p.Phe269fs) duplication CRX-related condition [RCV003420914] Chr19:47839827..47839828 [GRCh38]
Chr19:48343084..48343085 [GRCh37]
Chr19:19q13.33
likely pathogenic
NM_000554.6(CRX):c.894C>A (p.Ile298=) single nucleotide variant Leber congenital amaurosis 7 [RCV003787269] Chr19:47839961 [GRCh38]
Chr19:48343218 [GRCh37]
Chr19:19q13.33
likely benign
NM_000554.6(CRX):c.319C>G (p.Pro107Ala) single nucleotide variant Leber congenital amaurosis 7 [RCV003789052] Chr19:47839386 [GRCh38]
Chr19:48342643 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_000554.6(CRX):c.165G>A (p.Glu55=) single nucleotide variant Leber congenital amaurosis 7 [RCV003790639] Chr19:47836307 [GRCh38]
Chr19:48339564 [GRCh37]
Chr19:19q13.33
likely benign
NM_000554.6(CRX):c.159del (p.Glu53fs) deletion Leber congenital amaurosis 7 [RCV003781419] Chr19:47836301 [GRCh38]
Chr19:48339558 [GRCh37]
Chr19:19q13.33
pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3203
Count of miRNA genes:1071
Interacting mature miRNAs:1332
Transcripts:ENST00000221996, ENST00000535362, ENST00000539067, ENST00000556527, ENST00000566686, ENST00000602001, ENST00000604324
Prediction methods:Microtar, Miranda, Rnahybrid
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.

Markers in Region
D19S902  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371948,332,057 - 48,332,271UniSTSGRCh37
Build 361953,023,869 - 53,024,083RGDNCBI36
Celera1945,137,758 - 45,137,968RGD
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map19qUniSTS
HuRef1944,758,758 - 44,758,960UniSTS
Marshfield Genetic Map1972.72UniSTS
Marshfield Genetic Map1972.72RGD
Genethon Genetic Map1976.2UniSTS
deCODE Assembly Map1976.15UniSTS
G42186  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371948,345,920 - 48,346,098UniSTSGRCh37
Build 361953,037,732 - 53,037,910RGDNCBI36
Celera1945,151,623 - 45,151,801RGD
Cytogenetic Map19q13.3UniSTS
HuRef1944,772,628 - 44,772,806UniSTS
G27385  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371948,344,265 - 48,344,374UniSTSGRCh37
Build 361953,036,077 - 53,036,186RGDNCBI36
Celera1945,149,969 - 45,150,078RGD
Cytogenetic Map19q13.3UniSTS
HuRef1944,770,974 - 44,771,083UniSTS
CRX_8276  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371948,345,828 - 48,346,589UniSTSGRCh37
Build 361953,037,640 - 53,038,401RGDNCBI36
Celera1945,151,531 - 45,152,292RGD
HuRef1944,772,536 - 44,773,297UniSTS
D8S2278  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map5p15.33UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map4q32.1UniSTS
Cytogenetic Map6q22UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map13q14.3UniSTS
Cytogenetic Map12q21.33UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map3p25.3-p24.1UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map2q11.2-q12.1UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map10q11UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map12q21.31UniSTS
Cytogenetic Map2q33-q34UniSTS
Cytogenetic Map22q12.1UniSTS
Cytogenetic Map17q22.2UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map7q34-q35UniSTS
Cytogenetic MapXp22.1UniSTS
Cytogenetic Map1q23.1UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map2q37UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map4q34.1UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map6q25UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map6p22UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map8q24UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map2p23.1UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map12p12.3UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map15q22.1UniSTS
Cytogenetic Map1p34-p33UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map17q21.1UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic Map3q25.31UniSTS
Cytogenetic Map14q22UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map12q21.1UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map3q26.32UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map13q11UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map3p25.1UniSTS
Cytogenetic Map14q12-q13UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map17q11.2-q12UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map11p15UniSTS
Cytogenetic Map4q31UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map7p22UniSTS
Cytogenetic Map15q15-q21.1UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map10q22.3UniSTS
Cytogenetic Map6q27UniSTS
Cytogenetic Map11p15.3UniSTS
Cytogenetic Map4q22.1-q23UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map17q22-q23.2UniSTS
Cytogenetic Map3q21UniSTS
Cytogenetic Map18q22.3UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic MapXq26.1UniSTS
Cytogenetic Map4q21.21UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic MapXq13.2UniSTS
Cytogenetic Map2q32.1UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.32UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map3q13.13UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map10p11.23UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map11q14UniSTS
Cytogenetic Map13q33.1UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map1q31-q41UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map14q23UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map7q31UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map11q12.2UniSTS
Cytogenetic Map14q24.2UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map20q11.22-q11.23UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map6p24.3UniSTS
Cytogenetic Map9p24.1UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map9p21UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map3p12.1UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map17q24.1UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic Map12q14.3-q15UniSTS
Cytogenetic Map15q11-q13UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic Map3q28UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map14q24.1UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map1q44UniSTS
Cytogenetic Map14q32.2UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map13q32.2UniSTS
Cytogenetic Map2q23.3UniSTS
Cytogenetic Map7p21.1UniSTS
Cytogenetic Map8p12-p11UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map3p21.32UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map10q24UniSTS
Cytogenetic Map15q13.3UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map13q32.3UniSTS
Cytogenetic Map11q24UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map12q24.33UniSTS
Cytogenetic Map5q31.3UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map5q21.2UniSTS
Cytogenetic Map5q15UniSTS
Cytogenetic Map3p26.1UniSTS
Cytogenetic Map19p13.13UniSTS
Cytogenetic Map19q13.13UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map20p11UniSTS
Cytogenetic Map2p12UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map5q33.1UniSTS
Cytogenetic Map3p21.1-p14.3UniSTS
Cytogenetic Map6p12.1UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map1q32.3UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map6q16.1UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map9q33.1UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map7q35UniSTS
Cytogenetic Map16p12.3UniSTS
Cytogenetic Map2p25.3UniSTS
Cytogenetic Map1q22-q23UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map3p26UniSTS
Cytogenetic Map4q32.3UniSTS
Cytogenetic Map3p14.2UniSTS
Cytogenetic Map18q12.1UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic Map8p21.1UniSTS
Cytogenetic Map7p12.3UniSTS
Cytogenetic Map6p22.3UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map21q21.1UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map18q21.32UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map20p12.1UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map5p13.2UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map12q23.3UniSTS
Cytogenetic Map12q23.1UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map1p22.2UniSTS
Cytogenetic Map8q23.3UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map2q12UniSTS
Cytogenetic Map11q25UniSTS
Cytogenetic MapXp21.1UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map6p21.31UniSTS
Cytogenetic Map5p15.3UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic Map10q21-q22UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map17q24UniSTS
Cytogenetic Map1p33-p32UniSTS
Cytogenetic Map7p13-p11.1UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map7q31.3UniSTS
Cytogenetic MapXp22.13UniSTS
Cytogenetic Map14q24UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map1p13-p12UniSTS
Cytogenetic Map4q32UniSTS
Cytogenetic Map9q22.33UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map10q21.1UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map7q21.11UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map1q12UniSTS
Cytogenetic Map3q13.1-q13.2UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map14q31UniSTS
D11S3114  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map15q13UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map3p24.3UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map7q31.1UniSTS
Cytogenetic Map7q21.11UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map3q22-q24UniSTS
Cytogenetic Map5q23.3-q31.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map17q11UniSTS
Cytogenetic Map1q21-q23UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map17p12-p11.2UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map2q32.3UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map3q27.2UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map1p36.2UniSTS
Cytogenetic Map15q11.2-q21.3UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map12q13.2UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map11p15UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map12p12.1UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map2q12.1UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map1q44UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map22q12.1UniSTS
Cytogenetic Map17q22.2UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map10q11.1UniSTS
Cytogenetic Map19q12UniSTS
Cytogenetic Map11q14.2UniSTS
Cytogenetic Map1q23.1UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map18q12.1-q21.1UniSTS
Cytogenetic Map2q37UniSTS
Cytogenetic Map20q11.21UniSTS
Cytogenetic Map6p21.32UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map2q21.3UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map6q27UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map9q21.12UniSTS
Cytogenetic Map7p22.2UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map10q24.31UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map3q13.31UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map12q23.2UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map1p36UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map16q22UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map19p13.1-p12UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map2p22.1UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map5q23.1UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map8p11.2UniSTS
Cytogenetic Map7q21.1UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map5p13UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map12q21.1UniSTS
Cytogenetic Map16q12.1UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic MapXq13.2UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map14q24UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map22q11.1UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map11q13.1-q13.2UniSTS
Cytogenetic Map7p22UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map12p13.1UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map10q23.31UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic Map14q24.1UniSTS
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map1p35-p34.3UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map5q35.2UniSTS
Cytogenetic Map10q22.3UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map12p12.2-p11.2UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map11p15.3UniSTS
Cytogenetic Map1p36.11-p34.2UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map20p11.23UniSTS
Cytogenetic Map3q22.3UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map15q14UniSTS
Cytogenetic Map5q31.3UniSTS
Cytogenetic Map11q14UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map6p21.2UniSTS
Cytogenetic Map10q11.1-q24UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic MapXp11.22UniSTS
Cytogenetic Map10p15.1UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map14q31.1UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic MapXq21.1UniSTS
Cytogenetic Map15q22UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic MapXq12-q13UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map7q31UniSTS
Cytogenetic Map7q31.1-q31.3UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic MapXq13.1-q21.1UniSTS
Cytogenetic Map20pter-q12UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map12q13.11-q14.3UniSTS
Cytogenetic Map2q32.1UniSTS
Cytogenetic Map15q21-q22UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map20q11.22-q11.23UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map4q21.22UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map1q21.2-q21.3UniSTS
Cytogenetic Map9p24.1UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic Map8q11.2UniSTS
Cytogenetic MapXq12UniSTS
Cytogenetic Map1q41-q42.2UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map12q23-q24.1UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map1p33UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map15q26.3UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map3p21UniSTS
Cytogenetic Map15q11-q13UniSTS
Cytogenetic Map13q12-q14UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map9p23UniSTS
Cytogenetic Map7p12.3UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map2q37.2UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map1p21.2UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map14q32.2UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map13q32.2UniSTS
Cytogenetic Map14q23.1UniSTS
Cytogenetic Map5q11.2UniSTS
Cytogenetic Map2q24.1UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic Map19p13.1UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map8p12-p11UniSTS
Cytogenetic Map1q31-q32UniSTS
Cytogenetic Map6q24.1UniSTS
Cytogenetic Map10q24UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map10q26.11UniSTS
Cytogenetic Map8p21.1UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map7p21.1UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map13q32.3UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map12q24.33UniSTS
Cytogenetic Map14q23.2UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic Map3p26.1-p25.1UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map4p15.2UniSTS
Cytogenetic Map17q24-q25UniSTS
Cytogenetic Map5q12.1UniSTS
Cytogenetic Map5q15UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map17q21.1UniSTS
Cytogenetic Map8q23.1UniSTS
Cytogenetic Map10p12.31UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic MapXq21UniSTS
Cytogenetic Map6p12UniSTS
Cytogenetic Map2p15-p13UniSTS
Cytogenetic Map19qUniSTS
Cytogenetic Map20p11UniSTS
Cytogenetic Map22q12.3-q13.1UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map3p21.1-p14.3UniSTS
Cytogenetic Map6p12.1UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map6q16.1UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map9q21.11UniSTS
Cytogenetic Map8q12UniSTS
Cytogenetic Map1q24.2UniSTS
Cytogenetic Map2q34UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map14q21.2UniSTS
Cytogenetic Map7q35UniSTS
Cytogenetic Map5p13.3UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map1q22-q23UniSTS
Cytogenetic Map6p21.31UniSTS
Cytogenetic Map4q21UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map4q13.3UniSTS
Cytogenetic Map9q34.1UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map9q22.1-q22.2UniSTS
Cytogenetic Map18q12.1UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map7q21.2UniSTS
Cytogenetic Map9p22.3UniSTS
Cytogenetic Map8q21.11UniSTS
Cytogenetic Map6p22.3UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map4p12UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map21q11.2UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map19q11UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map15q26.2UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map12q13.11UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map5p13.2UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map1q42.13UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map3q25.1UniSTS
Cytogenetic Map1p22.2UniSTS
Cytogenetic Map1p32.2-p32.1UniSTS
Cytogenetic Map15q24UniSTS
Cytogenetic MapXp21.1UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map7q36UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map11q22UniSTS
Cytogenetic Map5p15.3UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map20q13.3-qterUniSTS
Cytogenetic Map13q13.1UniSTS
Cytogenetic Map1p33-p32UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map3q13.13-q13.2UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic Map7qUniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map4q32UniSTS
Cytogenetic Map9q22.33UniSTS
Cytogenetic Map5q35.1UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map19p13.13UniSTS
Cytogenetic Map4q13.2UniSTS
Cytogenetic Map4q31.23UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map14q24.2UniSTS
D8S2279  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map21q22.12UniSTS
Cytogenetic Map15q13UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map15q22.3UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map21q21.3UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map17q24.2UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map15q13.2UniSTS
Cytogenetic Map12q24.1UniSTS
Cytogenetic Map7p15.2UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map2p25.2UniSTS
Cytogenetic Map3p24.3UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map5q14UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map1q42.12UniSTS
Cytogenetic Map7q21.11UniSTS
Cytogenetic Map9q34.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map6p21.1-p12UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map7p21.3UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map22q11.22UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map1q12UniSTS
Cytogenetic Map8p23UniSTS
Cytogenetic Map11q13.2-q13.3UniSTS
Cytogenetic Map13q14.1-q14.3UniSTS
Cytogenetic Map3q22-q24UniSTS
Cytogenetic Map3q13.1-q13.2UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map5q23.3-q31.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map17q11UniSTS
Cytogenetic Map17p13.1-p12UniSTS
Cytogenetic Map18q21.33UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map1q21-q23UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map17p12-p11.2UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map2q32UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map2q33UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map3q27UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map10q23-q24UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map14q31-q32UniSTS
Cytogenetic Map5p15.33UniSTS
Cytogenetic Map1q23.2UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map2q32.3UniSTS
Cytogenetic Map15q21.1UniSTS
Cytogenetic Map4q32.2UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map5q14.2UniSTS
Cytogenetic Map4q32.1UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map11q14.1UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map3p21.1UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map6q22UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map11q23UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map22q12.3UniSTS
Cytogenetic Map20q11UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map18p11.31UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map2p22.1UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map1p35.2UniSTS
Cytogenetic MapYp11.2UniSTS
Cytogenetic Map13q13.1UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map18q12UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map3q27.2UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map5p15.2UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map1q42UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map17q21.2-q21.3UniSTS
Cytogenetic Map5q32-q34UniSTS
Cytogenetic Map15q14UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map3q21.2UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map14q24.2UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map1q32.3UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map13q14.3UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map10p12UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic Map14q21.3UniSTS
Cytogenetic Map8p22-p21UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map12q21.33UniSTS
Cytogenetic Map20q13.32UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map10q26UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map7q31.1UniSTS
Cytogenetic Map1p33UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map9q22.3UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map3q25UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map14q31.1UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map12q13.2UniSTS
Cytogenetic Map22q13.31-q13.33UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic Map7q32.2UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map14q31-q32.1UniSTS
Cytogenetic Map1q42.11UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map2q11.2-q12.1UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map6q16.2UniSTS
Cytogenetic Map18q23UniSTS
Cytogenetic Map2q14UniSTS
Cytogenetic Map20p11.23-p11.21UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic MapXq26.3UniSTS
Cytogenetic Map8q24.11UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map1q44UniSTS
Cytogenetic Map9q22.33UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map9q21.32UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map1p36.1UniSTS
Cytogenetic Map20q12UniSTS
Cytogenetic Map4q21.23UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map22q12.1UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map2q21.3UniSTS
Cytogenetic Map7q21.2UniSTS
Cytogenetic Map17q22.2UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map12q24.11UniSTS
Cytogenetic Map18q21UniSTS
Cytogenetic Map10q11.1UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map19q12UniSTS
Cytogenetic Map7q34-q35UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map1q23.1UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map6p25.1-p23UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map18q12.1-q21.1UniSTS
Cytogenetic Map12p13.1UniSTS
Cytogenetic Map13q12.1UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic Map6p21.32UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map12p13.1-p12.3UniSTS
Cytogenetic Map3p25.2UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map3p21.2UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic MapXp21.2UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map9q21.12UniSTS
Cytogenetic Map15q23UniSTS
Cytogenetic Map7p22.2UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map7q33UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map4q21.22UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map10q24.31UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map16p12.3UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map2q24.3UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map3q13.31UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map6q25UniSTS
Cytogenetic Map6p21UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map12p13-p12UniSTS
Cytogenetic Map9p13.2UniSTS
Cytogenetic Map6p22UniSTS
Cytogenetic Map2q12.1UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map1p22.1UniSTS
Cytogenetic Map1p36UniSTS
Cytogenetic Map9q13-q21UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic MapXp11.2UniSTS
Cytogenetic Map19pUniSTS
Cytogenetic Map19p13.1-p12UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map12q24.33UniSTS
Cytogenetic Map3q21UniSTS
Cytogenetic Map8q24UniSTS
Cytogenetic Map18p11.31-p11.21UniSTS
Cytogenetic Map11p15.3-p15.1UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map8q22UniSTS
Cytogenetic Map4p15.1UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map2p16.3UniSTS
Cytogenetic Map16p13.12UniSTS
Cytogenetic Map7p21.2UniSTS
Cytogenetic Map12q21.1UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map6q24.3UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map5q23.1UniSTS
Cytogenetic Map10q23.2UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map6q22.1UniSTS
Cytogenetic Map1q42.1UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map6p22.3UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map15q22.1UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map3p21-p12UniSTS
Cytogenetic Map4q35UniSTS
Cytogenetic Map1p34-p33UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map3p22-p21.33UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map3q22.1UniSTS
Cytogenetic Map8q21.11UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map7p14UniSTS
Cytogenetic Map17q21.1UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map9q22UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic Map20q11.2-q13.2UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map17q24UniSTS
Cytogenetic Map3q25.31UniSTS
Cytogenetic Map6p24.3UniSTS
Cytogenetic Map2q31.3UniSTS
Cytogenetic Map1q31UniSTS
Cytogenetic Map7q32-q33UniSTS
Cytogenetic Map7q21.1UniSTS
Cytogenetic Map14q23-q24.2UniSTS
Cytogenetic Map19q13.3-q13.4UniSTS
Cytogenetic Map2p24-p21UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map15q26.3UniSTS
Cytogenetic Map7p22UniSTS
Cytogenetic Map12p11UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map1p12UniSTS
Cytogenetic Map13q32.3UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map20q13UniSTS
Cytogenetic Map17q25.2UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map10p12.33UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic MapXp11.22UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic MapXq25-q26UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map5p13UniSTS
Cytogenetic Map15q25UniSTS
Cytogenetic Map5q12.1UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map1p36.22UniSTS
Cytogenetic Map3q26.31UniSTS
Cytogenetic Map17q22-q23UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic MapXq13.2UniSTS
Cytogenetic Map12q23.1UniSTS
Cytogenetic Map16q12.2UniSTS
Cytogenetic Map3q26.32UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map3q26.2-q27UniSTS
Cytogenetic Map1q25.1-q25.2UniSTS
Cytogenetic Map14q24UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map3p25.1UniSTS
Cytogenetic Map5q21.3UniSTS
Cytogenetic Map5p13.3UniSTS
Cytogenetic Map10q22.1UniSTS
Cytogenetic Map14q12-q13UniSTS
Cytogenetic MapXp22UniSTS
Cytogenetic MapXq23UniSTS
Cytogenetic Map20p12.3-p11.21UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map17q11.2-q12UniSTS
Cytogenetic Map4q32-q34UniSTS
Cytogenetic MapXq25-q26.1UniSTS
Cytogenetic Map2p25-p24UniSTS
Cytogenetic Map2p25UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic MapXp22.2-p22.1UniSTS
Cytogenetic MapXq22.1UniSTS
Cytogenetic Map4q25UniSTS
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map20q11.22-q12UniSTS
Cytogenetic Map4q34.2UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map22q13.1-q13.2UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map12q13-q14UniSTS
Cytogenetic Map6q14.1UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map9q31.2UniSTS
Cytogenetic Map11q13.1-q13.2UniSTS
Cytogenetic Map12q13UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map21q21.2UniSTS
Cytogenetic Map10q24.3UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map8q21.1UniSTS
Cytogenetic Map5p13.2UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic Map1q32.2UniSTS
Cytogenetic Map4q21.3UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map3q26.2UniSTS
Cytogenetic Map2q36.3UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map11q22.1UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map10q23.31UniSTS
Cytogenetic Map4p15.32UniSTS
Cytogenetic Map18q12.2UniSTS
Cytogenetic Map15q15.2UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map14q24.1UniSTS
Cytogenetic Map12q14.1UniSTS
Cytogenetic Map6p22.3-p22.1UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map6q15UniSTS
Cytogenetic Map6q23.3UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map5q35.2UniSTS
Cytogenetic Map10q22.3UniSTS
Cytogenetic Map1p35UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map8q23.1UniSTS
Cytogenetic Map6q27UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic MapXp11UniSTS
Cytogenetic Map11p15.3UniSTS
Cytogenetic Map20p12UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic MapXp22.3UniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map19p13.3-p13.2UniSTS
Cytogenetic Map1p36.11-p34.2UniSTS
Cytogenetic Map4q22.1-q23UniSTS
Cytogenetic Map7q22.3UniSTS
Cytogenetic Map9p22UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map2p22.3UniSTS
Cytogenetic MapXq26.1UniSTS
Cytogenetic Map4q21.21UniSTS
Cytogenetic Map22q13.3UniSTS
Cytogenetic Map2q32.1UniSTS
Cytogenetic MapYp11.32UniSTS
Cytogenetic Map11p14UniSTS
Cytogenetic Map1p32.1UniSTS
Cytogenetic Map2p25.3UniSTS
Cytogenetic Map4q34.3UniSTS
Cytogenetic Map9p12UniSTS
Cytogenetic Map3q13.13UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map3p21UniSTS
Cytogenetic Map11q23.2UniSTS
Cytogenetic Map20p11.23UniSTS
Cytogenetic Map3p13UniSTS
Cytogenetic Map4p13UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map10p11.23UniSTS
Cytogenetic Map8p21.1UniSTS
Cytogenetic Map15q22-q24UniSTS
Cytogenetic Map8q23UniSTS
Cytogenetic Map16q12.1UniSTS
Cytogenetic Map14q13.2UniSTS
Cytogenetic Map18q12.1UniSTS
Cytogenetic Map5q31.3UniSTS
Cytogenetic Map11q14UniSTS
Cytogenetic Map13q33.1UniSTS
Cytogenetic Map14q21.2UniSTS
Cytogenetic Map4q31.3UniSTS
Cytogenetic Map15q21-q22UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map13q12.11UniSTS
Cytogenetic Map6p21.2UniSTS
Cytogenetic Map15q21.3UniSTS
Cytogenetic Map3q21.1UniSTS
Cytogenetic Map6p21.31UniSTS
Cytogenetic Map10p15.1UniSTS
Cytogenetic Map1q24.2UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map11q24UniSTS
Cytogenetic Map21q22.13UniSTS
Cytogenetic Map15q22.1-q22.31UniSTS
Cytogenetic Map15q22UniSTS
Cytogenetic MapXq13UniSTS
Cytogenetic Map1q31-q41UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic Map14q32.1UniSTS
Cytogenetic Map16q12-q13UniSTS
Cytogenetic MapXq12-q13UniSTS
Cytogenetic Map14q23UniSTS
Cytogenetic Map12q11-q12UniSTS
Cytogenetic Map1q42.1-q43UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic Map7q31UniSTS
Cytogenetic Map12q24UniSTS
Cytogenetic MapXp22.11UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map8q24.21UniSTS
Cytogenetic Map12q13.1UniSTS
Cytogenetic Map12q22-q23.1UniSTS
Cytogenetic Map11q12.2UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map5q31.2-q34UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map6q24.2UniSTS
Cytogenetic Map22qUniSTS
Cytogenetic Map12q13.11-q14.3UniSTS
Cytogenetic Map7p11UniSTS
Cytogenetic MapXp22.12-p22.11UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map20q11.22-q11.23UniSTS
Cytogenetic Map8q24.22UniSTS
Cytogenetic Map8p22-p21.3UniSTS
Cytogenetic Map10q24UniSTS
Cytogenetic Map1q21.2-q21.3UniSTS
Cytogenetic Map1p36.12UniSTS
Cytogenetic Map9p24.1UniSTS
Cytogenetic Map6q25.2-q27UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map8q11.2UniSTS
Cytogenetic Map3q28-q29UniSTS
Cytogenetic Map7p14-p13UniSTS
Cytogenetic Map12q24.2UniSTS
Cytogenetic Map6p22.2UniSTS
Cytogenetic Map7q22-qterUniSTS
Cytogenetic Map12q24.2-q24.31UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map1p21UniSTS
Cytogenetic Map1q32.2-q41UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map12q23-q24.1UniSTS
Cytogenetic Map5p15.1-p14.3UniSTS
Cytogenetic Map16p13.11UniSTS
Cytogenetic Map6q22-q23UniSTS
Cytogenetic Map9p21UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map3p12.1UniSTS
Cytogenetic Map9q21.11UniSTS
Cytogenetic Map17q24.1UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map14q21UniSTS
Cytogenetic Map11p15UniSTS
Cytogenetic Map16q22UniSTS
Cytogenetic Map15q11-q13UniSTS
Cytogenetic Map13q12-q14UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map2q24UniSTS
Cytogenetic Map12p13UniSTS
Cytogenetic Map3q28UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic MapXq22.2UniSTS
Cytogenetic Map7p12.3UniSTS
Cytogenetic Map7p15.1UniSTS
Cytogenetic Map2q37.2UniSTS
Cytogenetic Map18q22.3UniSTS
Cytogenetic Map14q32.13UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map16p13.1UniSTS
Cytogenetic Map7q31.3UniSTS
Cytogenetic Map20q13.2-q13.3UniSTS
Cytogenetic Map1p21.2UniSTS
Cytogenetic Map9q21.33UniSTS
Cytogenetic Map14q32.2UniSTS
Cytogenetic Map13q13.3UniSTS
Cytogenetic Map10p12.31UniSTS
Cytogenetic Map22q11.1UniSTS
Cytogenetic Map5q33.2UniSTS
Cytogenetic Map13q32.2UniSTS
Cytogenetic Map14q23.1UniSTS
Cytogenetic Map8q21.2UniSTS
Cytogenetic Map2q24.1UniSTS
Cytogenetic Map10q26.13UniSTS
Cytogenetic Map2q23.3UniSTS
Cytogenetic Map19p13.1UniSTS
Cytogenetic Map15q14-q15UniSTS
Cytogenetic Map1q42.13UniSTS
Cytogenetic Map14q31UniSTS
Cytogenetic Map7p21.1UniSTS
Cytogenetic Map8p12-p11UniSTS
Cytogenetic Map18p11.2UniSTS
Cytogenetic Map7p11.1UniSTS
Cytogenetic Map1q31-q32UniSTS
Cytogenetic Map2q12UniSTS
Cytogenetic Map3p21.32UniSTS
Cytogenetic Map2p24.2UniSTS
Cytogenetic Map2q33-q34UniSTS
Cytogenetic Map6q24.1UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map15q13.3UniSTS
Cytogenetic Map10q26.11UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map10q23.33UniSTS
Cytogenetic Map12p12.1UniSTS
Cytogenetic Map7p13-p12UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map17q11-q21UniSTS
Cytogenetic Map12q23UniSTS
Cytogenetic Map6p24-p22.3UniSTS
Cytogenetic Map14q23.2UniSTS
Cytogenetic Map7q31.1-q31.2UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic Map3p26.1-p25.1UniSTS
Cytogenetic Map5q35UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map4p15.2UniSTS
Cytogenetic Map6q16.3UniSTS
Cytogenetic Map17q24-q25UniSTS
Cytogenetic MapXq12UniSTS
Cytogenetic MapXq27.1UniSTS
Cytogenetic Map8q12.3UniSTS
Cytogenetic Map5q21.2UniSTS
Cytogenetic Map5q15UniSTS
Cytogenetic Map5q35.1UniSTS
Cytogenetic Map4q13.3UniSTS
Cytogenetic Map4q35.2UniSTS
Cytogenetic Map3p26.1UniSTS
Cytogenetic Map3p11.1UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map2q21.2UniSTS
Cytogenetic Map19p13.13UniSTS
Cytogenetic Map18q12.3UniSTS
Cytogenetic Map18p11.3UniSTS
Cytogenetic Map17q11.1UniSTS
Cytogenetic Map15q25.1UniSTS
Cytogenetic Map13q12.3UniSTS
Cytogenetic Map12q23.2UniSTS
Cytogenetic Map12q12-q13UniSTS
Cytogenetic Map12q14UniSTS
Cytogenetic Map5q33.1UniSTS
Cytogenetic Map2q32-q34UniSTS
Cytogenetic Map16q22.3UniSTS
Cytogenetic Map2p15-p13UniSTS
Cytogenetic MapXp11.4UniSTS
Cytogenetic Map19q13.33-q13.41UniSTS
Cytogenetic Map20p11UniSTS
Cytogenetic Map6q23-q24UniSTS
Cytogenetic Map2p12UniSTS
Cytogenetic Map2p13UniSTS
Cytogenetic Map13q11-q12UniSTS
Cytogenetic Map6p12.3-p11.2UniSTS
Cytogenetic Map6q16.1-q16.3UniSTS
Cytogenetic Map22q11UniSTS
Cytogenetic Map7q31.2UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map3q25.2UniSTS
Cytogenetic Map3p21.1-p14.3UniSTS
Cytogenetic Map6p12.1UniSTS
Cytogenetic Map3q23-q24UniSTS
Cytogenetic Map3q12UniSTS
Cytogenetic Map7q11.1UniSTS
Cytogenetic Map3q22.3UniSTS
Cytogenetic Map7q21.3UniSTS
Cytogenetic Map4q31.1UniSTS
Cytogenetic Map22q12-q13UniSTS
Cytogenetic Map4q23UniSTS
Cytogenetic MapXp22.12UniSTS
Cytogenetic Map6q16.1UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map18q21.3UniSTS
Cytogenetic Map9q33.2UniSTS
Cytogenetic Map11q21UniSTS
Cytogenetic Map8q12UniSTS
Cytogenetic Map4q28-q32UniSTS
Cytogenetic Map17q24.3UniSTS
Cytogenetic Map6p23UniSTS
Cytogenetic Map8p11UniSTS
Cytogenetic Map5q34UniSTS
Cytogenetic Map1q24.3UniSTS
Cytogenetic Map9q33.1UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map2p16.2UniSTS
Cytogenetic Map9q22.31UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map7q35UniSTS
Cytogenetic Map1p36.2UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map16p12UniSTS
Cytogenetic Map1q22-q23UniSTS
Cytogenetic Map13q22.1UniSTS
Cytogenetic Map2q12.2UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map4q21UniSTS
Cytogenetic Map13q12.2UniSTS
Cytogenetic Map9q31-q33UniSTS
Cytogenetic Map6p24.1UniSTS
Cytogenetic Map1q23UniSTS
Cytogenetic Map11q12-q13UniSTS
Cytogenetic Map11q13.3UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map11q12.1UniSTS
Cytogenetic Map3p26UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map8p21UniSTS
Cytogenetic Map19q13.1-q13.2UniSTS
Cytogenetic Map1p33-p32UniSTS
Cytogenetic Map7q36.2UniSTS
Cytogenetic Map4q32.3UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map10q26.1UniSTS
Cytogenetic Map9q32-q33.3UniSTS
Cytogenetic Map9q22.1-q22.2UniSTS
Cytogenetic Map3q26.1-q26.2UniSTS
Cytogenetic Map5q31-q34UniSTS
Cytogenetic Map9q33-q34UniSTS
Cytogenetic Map5q11.2-q13.2UniSTS
Cytogenetic Map13q32UniSTS
Cytogenetic Map9q22.32UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map4q28.1UniSTS
Cytogenetic Map5q22UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic MapXq13.3UniSTS
Cytogenetic Map9q31.3UniSTS
Cytogenetic Map3p26.3UniSTS
Cytogenetic Map2q11.1UniSTS
Cytogenetic Map21q11.2UniSTS
Cytogenetic Map18q21.32UniSTS
Cytogenetic Map15q26.2UniSTS
Cytogenetic Map12q24.23UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map20p12.1UniSTS
Cytogenetic Map2q31.1-q31.2UniSTS
Cytogenetic MapXp22.31UniSTS
Cytogenetic MapXp21.3UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map4q28.2UniSTS
Cytogenetic Map3p14.2UniSTS
Cytogenetic Map3q24UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map20q13.2UniSTS
Cytogenetic Map14q11.2-q12UniSTS
Cytogenetic Map3p24UniSTS
Cytogenetic Map12q23.3UniSTS
Cytogenetic Map11q24.3UniSTS
Cytogenetic Map11q14.3UniSTS
Cytogenetic Map10q25.2UniSTS
Cytogenetic Map3q25.1UniSTS
Cytogenetic Map8q13UniSTS
Cytogenetic Map1p22.2UniSTS
Cytogenetic Map3p22.3UniSTS
Cytogenetic Map18q11.1UniSTS
Cytogenetic Map8q23.3UniSTS
Cytogenetic Map15q24UniSTS
Cytogenetic Map11cen-q12UniSTS
Cytogenetic Map11q25UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic MapXp21.1UniSTS
Cytogenetic Map7q36UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map12q21UniSTS
Cytogenetic Map7p15UniSTS
Cytogenetic Map7q22-q31UniSTS
Cytogenetic Map11q22UniSTS
Cytogenetic Map5p15.3UniSTS
Cytogenetic Map20q13.3-qterUniSTS
Cytogenetic Map1p35-p34UniSTS
Cytogenetic Map4p13-p12UniSTS
Cytogenetic Map10q21-q22UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map7p13-p11.1UniSTS
Cytogenetic Map9q31-q34UniSTS
Cytogenetic Map7q21.1-q22UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map3q13.13-q13.2UniSTS
Cytogenetic MapXp22.13UniSTS
Cytogenetic Map13q12.12UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map1pUniSTS
Cytogenetic Map16pUniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map7qUniSTS
Cytogenetic Map2qUniSTS
Cytogenetic Map5q13.1UniSTS
Cytogenetic Map11p14.1UniSTS
Cytogenetic Map4q32UniSTS
Cytogenetic Map2p22UniSTS
Cytogenetic Map5q14.3UniSTS
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map5q23.2UniSTS
Cytogenetic Map2p24.1UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map12p13.32UniSTS
Cytogenetic Map9p21.1UniSTS
Cytogenetic Map9q34.2-q34.3UniSTS
RH78183  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map19q13.3UniSTS
GeneMap99-GB4 RH Map19266.47UniSTS
GDB:631813  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map9p13.3-p12UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map2q33-q34UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map3q13.31UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map11p12UniSTS
Cytogenetic Map17q21.1UniSTS
Cytogenetic Map5q11.2-q13.1UniSTS
Cytogenetic Map6p24.3UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map7p22UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map18q12.1UniSTS
Cytogenetic Map15q24.2UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map1p32UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic MapXp22.3UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map18q22.3UniSTS
Cytogenetic Map16p12.1UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map8p21.1UniSTS
Cytogenetic Map14q23.1UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map2q23.3UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map10q24.2UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map3p21.33UniSTS
Cytogenetic Map12q24.33UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map15q13.2UniSTS
Cytogenetic Map13q12.11UniSTS
Cytogenetic Map2p23.1UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map6p21.31UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map4q28.1UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map3p24.3UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map15q13.3UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map5p15.3UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map5q33.1UniSTS
Cytogenetic Map19qUniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map19p13.3UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component
High
Medium 2 1 1 1 2 1 1
Low 7 1 8 4 38 4 44 6 8 7 10 12 1
Below cutoff 1354 1461 1101 400 813 306 2416 1038 2204 190 1037 1050 106 649 1480 4

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_008605 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000554 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC008745 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF024711 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF335246 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF335593 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF335594 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF335595 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF442496 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL711350 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC009045 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC016664 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC053672 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BE782215 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG396702 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ423938 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT007364 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU736672 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471126 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068259 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ340179 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ426867 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ426868 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF432655 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OP680592 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

RefSeq Acc Id: ENST00000221996   ⟹   ENSP00000221996
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1947,821,937 - 47,843,324 (+)Ensembl
RefSeq Acc Id: ENST00000539067   ⟹   ENSP00000445565
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1947,821,907 - 47,843,323 (+)Ensembl
RefSeq Acc Id: ENST00000556527
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1947,821,934 - 47,836,329 (+)Ensembl
RefSeq Acc Id: ENST00000566686   ⟹   ENSP00000457808
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1947,819,779 - 47,836,314 (+)Ensembl
RefSeq Acc Id: ENST00000602001
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1947,840,710 - 47,843,109 (+)Ensembl
RefSeq Acc Id: ENST00000604324
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1947,820,544 - 47,822,010 (+)Ensembl
RefSeq Acc Id: ENST00000613299   ⟹   ENSP00000478106
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1947,821,964 - 47,843,330 (+)Ensembl
RefSeq Acc Id: NM_000554   ⟹   NP_000545
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381947,821,937 - 47,843,324 (+)NCBI
GRCh371948,323,807 - 48,346,587 (+)NCBI
Build 361953,016,911 - 53,038,393 (+)NCBI Archive
HuRef1944,751,798 - 44,773,295 (+)ENTREZGENE
CHM1_11948,327,266 - 48,348,759 (+)NCBI
T2T-CHM13v2.01950,652,778 - 50,674,184 (+)NCBI
Sequence:
RefSeq Acc Id: NP_000545   ⟸   NM_000554
- UniProtKB: Q0QD45 (UniProtKB/Swiss-Prot),   O43186 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000478106   ⟸   ENST00000613299
RefSeq Acc Id: ENSP00000445565   ⟸   ENST00000539067
RefSeq Acc Id: ENSP00000221996   ⟸   ENST00000221996
RefSeq Acc Id: ENSP00000457808   ⟸   ENST00000566686

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-O43186-F1-model_v2 AlphaFold O43186 1-299 view protein structure

Promoters
RGD ID:13204909
Promoter ID:EPDNEW_H26037
Type:multiple initiation site
Name:CRX_1
Description:cone-rod homeobox
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381947,821,937 - 47,821,997EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:2383 AgrOrtholog
COSMIC CRX COSMIC
Ensembl Genes ENSG00000105392 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000221996 ENTREZGENE
  ENST00000221996.12 UniProtKB/Swiss-Prot
  ENST00000566686.5 UniProtKB/TrEMBL
  ENST00000613299.1 UniProtKB/TrEMBL
Gene3D-CATH Homeodomain-like UniProtKB/Swiss-Prot
GTEx ENSG00000105392 GTEx
HGNC ID HGNC:2383 ENTREZGENE
Human Proteome Map CRX Human Proteome Map
InterPro Homeobox-like_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Homeobox_CS UniProtKB/Swiss-Prot
  Homeobox_dom UniProtKB/Swiss-Prot
  Otx_TF_C UniProtKB/Swiss-Prot
KEGG Report hsa:1406 UniProtKB/Swiss-Prot
NCBI Gene 1406 ENTREZGENE
OMIM 602225 OMIM
PANTHER CONE-ROD HOMEOBOX PROTEIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HOMEOBOX PROTEIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Homeodomain UniProtKB/Swiss-Prot
  TF_Otx UniProtKB/Swiss-Prot
PharmGKB PA26903 PharmGKB
PROSITE HOMEOBOX_1 UniProtKB/Swiss-Prot
  HOMEOBOX_2 UniProtKB/Swiss-Prot
SMART HOX UniProtKB/Swiss-Prot
Superfamily-SCOP SSF46689 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A087WTS9_HUMAN UniProtKB/TrEMBL
  A4GUB7_HUMAN UniProtKB/TrEMBL
  CRX_HUMAN UniProtKB/Swiss-Prot
  H3BUU7_HUMAN UniProtKB/TrEMBL
  O43186 ENTREZGENE
  Q0QD45 ENTREZGENE
UniProt Secondary Q0QD45 UniProtKB/Swiss-Prot