NYX (nyctalopin) - Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Gene: NYX (nyctalopin) Homo sapiens
Analyze
Symbol: NYX
Name: nyctalopin
RGD ID: 1350886
HGNC Page HGNC
Description: Predicted to be involved in visual perception. Predicted to localize to extracellular matrix and extracellular space. Implicated in congenital stationary night blindness 1A and night blindness.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: CLRP; CSNB1; CSNB1A; CSNB4; leucine-rich repeat protein; MGC138447; NBM1
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
GRCh38.p13 EnsemblX41,447,434 - 41,475,710 (+)EnsemblGRCh38hg38GRCh38
GRCh38.p13 EnsemblX41,447,343 - 41,475,710 (+)EnsemblGRCh38hg38GRCh38
GRCh38X41,447,343 - 41,475,652 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X41,306,596 - 41,334,905 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X41,191,631 - 41,219,907 (+)NCBINCBI36hg18NCBI36
Build 34X41,062,940 - 41,091,217NCBI
CeleraX45,447,487 - 45,475,680 (+)NCBI
Cytogenetic MapXp11.4NCBI
HuRefX39,038,027 - 39,066,404 (+)NCBIHuRef
CHM1_1X41,339,448 - 41,367,628 (+)NCBICHM1_1
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

Biological Process

Cellular Component

Molecular Function

References

Additional References at PubMed
PMID:2574143   PMID:9418727   PMID:11062472   PMID:12397430   PMID:12477932   PMID:12506099   PMID:12552565   PMID:14507859   PMID:15331616   PMID:15489334   PMID:15761389   PMID:15772651  
PMID:16553780   PMID:16670814   PMID:17392683   PMID:18617546   PMID:20301423   PMID:20801516   PMID:21832182   PMID:21873635   PMID:22735794   PMID:23289809   PMID:23406521   PMID:23714322  
PMID:25802485   PMID:26186194   PMID:26234941   PMID:28514442   PMID:31826698   PMID:32296183   PMID:32814053  


Genomics

Comparative Map Data
NYX
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX41,447,434 - 41,475,710 (+)EnsemblGRCh38hg38GRCh38
GRCh38.p13 EnsemblX41,447,343 - 41,475,710 (+)EnsemblGRCh38hg38GRCh38
GRCh38X41,447,343 - 41,475,652 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X41,306,596 - 41,334,905 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X41,191,631 - 41,219,907 (+)NCBINCBI36hg18NCBI36
Build 34X41,062,940 - 41,091,217NCBI
CeleraX45,447,487 - 45,475,680 (+)NCBI
Cytogenetic MapXp11.4NCBI
HuRefX39,038,027 - 39,066,404 (+)NCBIHuRef
CHM1_1X41,339,448 - 41,367,628 (+)NCBICHM1_1
Nyx
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X13,327,097 - 13,359,059 (+)NCBIGRCm39mm39
GRCm39 EnsemblX13,332,349 - 13,355,552 (+)Ensembl
GRCm38X13,461,090 - 13,492,820 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX13,466,110 - 13,489,313 (+)EnsemblGRCm38mm10GRCm38
MGSCv37X13,044,798 - 13,066,439 (+)NCBIGRCm37mm9NCBIm37
MGSCv36X12,623,066 - 12,646,271 (+)NCBImm8
CeleraX11,137,534 - 11,158,769 (+)NCBICelera
Cytogenetic MapXA1.1NCBI
cM MapX8.37NCBI
Nyx
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2X9,280,864 - 9,301,900 (-)NCBI
Rnor_6.0 EnsemblX10,197,547 - 10,218,583 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0X10,197,547 - 10,218,583 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0X10,996,027 - 11,017,063 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X21,293,033 - 21,314,069 (-)NCBIRGSC3.4rn4RGSC3.4
CeleraX9,819,177 - 9,840,154 (-)NCBICelera
Cytogenetic MapXq12NCBI
Nyx
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_0049555651,258,724 - 1,262,283 (-)NCBIChiLan1.0ChiLan1.0
NYX
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1X41,617,437 - 41,619,042 (+)NCBIpanpan1.1PanPan1.1panPan2
Mhudiblu_PPA_v0X33,899,010 - 33,928,363 (+)NCBIMhudiblu_PPA_v0panPan3
NYX
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X35,849,190 - 35,868,048 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaX23,197,511 - 23,216,363 (+)NCBI
ROS_Cfam_1.0X35,900,163 - 35,921,854 (+)NCBI
UMICH_Zoey_3.1X35,977,493 - 35,996,375 (+)NCBI
UNSW_CanFamBas_1.0X35,949,667 - 35,968,502 (+)NCBI
UU_Cfam_GSD_1.0X35,992,826 - 36,011,691 (+)NCBI
Nyx
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X28,049,848 - 28,070,063 (+)NCBI
SpeTri2.0NW_0049365027,890,582 - 7,909,157 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
NYX
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX37,080,275 - 37,105,514 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X37,080,197 - 37,105,513 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X41,299,214 - 41,325,323 (+)NCBISscrofa10.2Sscrofa10.2susScr3
NYX
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X38,642,393 - 38,665,534 (+)NCBI
Nyx
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462476214,154,655 - 14,183,822 (-)NCBI

Position Markers
DXS8012  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X41,323,804 - 41,323,975UniSTSGRCh37
Build 36X41,208,748 - 41,208,919RGDNCBI36
CeleraX45,464,578 - 45,464,749RGD
Cytogenetic MapXp11.4UniSTS
Marshfield Genetic MapX42.21UniSTS
Marshfield Genetic MapX42.21RGD
Genethon Genetic MapX66.1UniSTS
Whitehead-YAC Contig MapX UniSTS
SHGC-132042  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371945,593,964 - 45,594,165UniSTSGRCh37
GRCh37X41,331,111 - 41,331,317UniSTSGRCh37
Build 36X41,216,055 - 41,216,261RGDNCBI36
CeleraX45,471,886 - 45,472,092RGD
Celera1942,398,248 - 42,398,449UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic MapXp11.4UniSTS
HuRef1942,024,097 - 42,024,298UniSTS
HuRefX39,062,610 - 39,062,816UniSTS
TNG Radiation Hybrid Map2120316.0UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1254
Count of miRNA genes:662
Interacting mature miRNAs:754
Transcripts:ENST00000342595, ENST00000378220, ENST00000486842
Prediction methods:Miranda, Pita, 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.


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 3
Low 1 1 2 1 28 1 41 3 3 120 271 2 1 1 2
Below cutoff 397 672 332 74 740 45 1020 396 1259 167 402 323 29 233 579 2

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000342595   ⟹   ENSP00000340328
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX41,447,434 - 41,475,710 (+)Ensembl
RefSeq Acc Id: ENST00000378220   ⟹   ENSP00000367465
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX41,447,460 - 41,475,652 (+)Ensembl
RefSeq Acc Id: ENST00000486842
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX41,472,181 - 41,473,709 (+)Ensembl
RefSeq Acc Id: NM_001378477   ⟹   NP_001365406
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X41,447,343 - 41,475,652 (+)NCBI
RefSeq Acc Id: NM_022567   ⟹   NP_072089
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X41,447,460 - 41,475,652 (+)NCBI
GRCh38X41,447,343 - 41,475,652 (+)NCBI
GRCh37X41,306,713 - 41,334,905 (+)ENTREZGENE
GRCh37X41,306,713 - 41,334,905 (+)NCBI
Build 36X41,191,631 - 41,219,907 (+)NCBI Archive
HuRefX39,038,027 - 39,066,404 (+)ENTREZGENE
CHM1_1X41,339,448 - 41,367,628 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_072089   ⟸   NM_022567
- Peptide Label: precursor
- Sequence:
RefSeq Acc Id: NP_001365406   ⟸   NM_001378477
- Peptide Label: precursor
RefSeq Acc Id: ENSP00000367465   ⟸   ENST00000378220
RefSeq Acc Id: ENSP00000340328   ⟸   ENST00000342595
Protein Domains
LRRCT   LRRNT


Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x3 copy number gain See cases [RCV000133911] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|likely pathogenic|conflicting data from submitters
NYX, 24-BP DEL deletion Congenital stationary night blindness, type 1A [RCV000012173] ChrX:Xp11.4 pathogenic
NM_022567.2(NYX):c.1049G>A (p.Trp350Ter) single nucleotide variant Congenital stationary night blindness, type 1A [RCV000012174]|not provided [RCV000086260] ChrX:41474502 [GRCh38]
ChrX:41333755 [GRCh37]
ChrX:Xp11.4
pathogenic|not provided
NM_022567.2(NYX):c.105C>A (p.Cys35Ter) single nucleotide variant Congenital stationary night blindness, type 1A [RCV000012175]|not provided [RCV000086261] ChrX:41473558 [GRCh38]
ChrX:41332811 [GRCh37]
ChrX:Xp11.4
pathogenic|not provided
NM_022567.2(NYX):c.559_560delinsAA (p.Ala187Lys) indel Congenital stationary night blindness, type 1A [RCV000012176]|not provided [RCV000086268] ChrX:41474012..41474013 [GRCh38]
ChrX:41333265..41333266 [GRCh37]
ChrX:Xp11.4
pathogenic|not provided
NM_022567.2(NYX):c.281G>C (p.Arg94Pro) single nucleotide variant Congenital stationary night blindness, type 1A [RCV000012177] ChrX:41473734 [GRCh38]
ChrX:41332987 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_022567.2(NYX):c.302T>C (p.Ile101Thr) single nucleotide variant Congenital stationary night blindness, type 1A [RCV000012178] ChrX:41473755 [GRCh38]
ChrX:41333008 [GRCh37]
ChrX:Xp11.4
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x3 copy number gain See cases [RCV000050810] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:3092486-155699618)x2 copy number gain See cases [RCV000050889] ChrX:3092486..155699618 [GRCh38]
ChrX:3010527..154929279 [GRCh37]
ChrX:3020527..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x1 copy number loss See cases [RCV000050811] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss Global developmental delay [RCV000050386]|See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000050697] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000050699] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp22.33-11.22(chrX:10679-52809182)x1 copy number loss See cases [RCV000051026] ChrX:10679..52809182 [GRCh38]
ChrX:60679..52838206 [GRCh37]
ChrX:679..52854931 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26101-155999293)x3 copy number gain See cases [RCV000052322] ChrX:26101..155999293 [GRCh38]
ChrX:76101..155228958 [GRCh37]
ChrX:16101..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2790845-155699618)x3 copy number gain See cases [RCV000052359] ChrX:2790845..155699618 [GRCh38]
ChrX:2708886..154929279 [GRCh37]
ChrX:2718886..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:237659-156022362)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|See cases [RCV000052327] ChrX:237659..156022362 [GRCh38]
ChrX:154326..155252027 [GRCh37]
ChrX:94326..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:27245-155996431)x3 copy number gain See cases [RCV000052324] ChrX:27245..155996431 [GRCh38]
ChrX:77245..155226096 [GRCh37]
ChrX:17245..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.3(chrX:675360-46016699)x3 copy number gain See cases [RCV000052328] ChrX:675360..46016699 [GRCh38]
ChrX:636095..45876134 [GRCh37]
ChrX:556095..45761078 [NCBI36]
ChrX:Xp22.33-11.3
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40704-156022362)x3 copy number gain See cases [RCV000052325] ChrX:40704..156022362 [GRCh38]
ChrX:90704..155252027 [GRCh37]
ChrX:30704..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp11.4-11.23(chrX:41434043-47880733)x1 copy number loss See cases [RCV000053088] ChrX:41434043..47880733 [GRCh38]
ChrX:41293296..47619970 [GRCh37]
ChrX:41178240..47625076 [NCBI36]
ChrX:Xp11.4-11.23
pathogenic
GRCh38/hg38 Xp22.33-11.23(chrX:10679-48344725)x1 copy number loss See cases [RCV000052981] ChrX:10679..48344725 [GRCh38]
ChrX:60679..48204160 [GRCh37]
ChrX:679..48089104 [NCBI36]
ChrX:Xp22.33-11.23
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss Global developmental delay [RCV000052986]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|Intellectual functioning disability [RCV000052988]|Global developmental delay [RCV000052989]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss Hypoplastic left heart [RCV000052982]|See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:26102-57302794)x1 copy number loss See cases [RCV000052990] ChrX:26102..57302794 [GRCh38]
ChrX:76102..57329227 [GRCh37]
ChrX:16102..57345952 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-q22.1(chrX:675360-100368517)x1 copy number loss See cases [RCV000053005] ChrX:675360..100368517 [GRCh38]
ChrX:636095..99623515 [GRCh37]
ChrX:556095..99510171 [NCBI36]
ChrX:Xp22.33-q22.1
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:2769041-58055036)x1 copy number loss See cases [RCV000053007] ChrX:2769041..58055036 [GRCh38]
ChrX:2687082..58081470 [GRCh37]
ChrX:2697082..58098195 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-11.1(chrX:253129-58271563)x1 copy number loss See cases [RCV000052994] ChrX:253129..58271563 [GRCh38]
ChrX:169796..58297997 [GRCh37]
ChrX:109796..58314722 [NCBI36]
ChrX:Xp22.33-11.1
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:10679-55550898)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052971]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052971]|See cases [RCV000052971] ChrX:10679..55550898 [GRCh38]
ChrX:60679..55577331 [GRCh37]
ChrX:679..55594056 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain Global developmental delay [RCV000052984]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp11.4-11.3(chrX:41431518-43256505)x2 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054169]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054169]|See cases [RCV000054169] ChrX:41431518..43256505 [GRCh38]
ChrX:41290771..43115754 [GRCh37]
ChrX:41175715..43000698 [NCBI36]
ChrX:Xp11.4-11.3
uncertain significance
GRCh38/hg38 Xp22.33-11.22(chrX:10479-54179172)x3 copy number gain See cases [RCV000053817] ChrX:10479..54179172 [GRCh38]
ChrX:60479..53957191 [GRCh37]
ChrX:479..54222330 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
NM_022567.2(NYX):c.1040T>C (p.Leu347Pro) single nucleotide variant not provided [RCV000086259] ChrX:41474493 [GRCh38]
ChrX:41333746 [GRCh37]
ChrX:Xp11.4
not provided
NM_022567.2(NYX):c.1109G>T (p.Gly370Val) single nucleotide variant not provided [RCV000086262] ChrX:41474562 [GRCh38]
ChrX:41333815 [GRCh37]
ChrX:Xp11.4
not provided
NM_022567.2(NYX):c.340_354del (p.Glu114_Ala118del) deletion not provided [RCV000086263] ChrX:41473793..41473807 [GRCh38]
ChrX:41333046..41333060 [GRCh37]
ChrX:Xp11.4
not provided
NM_022567.2(NYX):c.427G>C (p.Ala143Pro) single nucleotide variant not provided [RCV000086264] ChrX:41473880 [GRCh38]
ChrX:41333133 [GRCh37]
ChrX:Xp11.4
not provided
NM_022567.2(NYX):c.452C>T (p.Pro151Leu) single nucleotide variant not provided [RCV000086265] ChrX:41473905 [GRCh38]
ChrX:41333158 [GRCh37]
ChrX:Xp11.4
not provided
NM_022567.2(NYX):c.524C>G (p.Pro175Arg) single nucleotide variant not provided [RCV000086266] ChrX:41473977 [GRCh38]
ChrX:41333230 [GRCh37]
ChrX:Xp11.4
not provided
NM_022567.2(NYX):c.551T>C (p.Leu184Pro) single nucleotide variant not provided [RCV000086267] ChrX:41474004 [GRCh38]
ChrX:41333257 [GRCh37]
ChrX:Xp11.4
not provided
NM_022567.2(NYX):c.638T>A (p.Leu213Gln) single nucleotide variant not provided [RCV000086269] ChrX:41474091 [GRCh38]
ChrX:41333344 [GRCh37]
ChrX:Xp11.4
not provided
NM_022567.2(NYX):c.647A>T (p.Asn216Ile) single nucleotide variant not provided [RCV000086270] ChrX:41474100 [GRCh38]
ChrX:41333353 [GRCh37]
ChrX:Xp11.4
not provided
NM_022567.2(NYX):c.695T>C (p.Leu232Pro) single nucleotide variant not provided [RCV000086271] ChrX:41474148 [GRCh38]
ChrX:41333401 [GRCh37]
ChrX:Xp11.4
not provided
NM_022567.2(NYX):c.732_743del (p.Glu244_Ala247del) deletion not provided [RCV000086272] ChrX:41474179..41474190 [GRCh38]
ChrX:41333432..41333443 [GRCh37]
ChrX:Xp11.4
not provided
NM_022567.2(NYX):c.792C>G (p.Asn264Lys) single nucleotide variant not provided [RCV000086273] ChrX:41474245 [GRCh38]
ChrX:41333498 [GRCh37]
ChrX:Xp11.4
not provided
NM_022567.2(NYX):c.854T>C (p.Leu285Pro) single nucleotide variant not provided [RCV000086274] ChrX:41474307 [GRCh38]
ChrX:41333560 [GRCh37]
ChrX:Xp11.4
not provided
NM_022567.2(NYX):c.85_108del (p.Arg29_Ala36del) deletion Retinal dystrophy [RCV001073621]|not provided [RCV000086275] ChrX:41473529..41473552 [GRCh38]
ChrX:41332782..41332805 [GRCh37]
ChrX:Xp11.4
pathogenic|not provided
NM_022567.2(NYX):c.893T>C (p.Phe298Ser) single nucleotide variant not provided [RCV000086276] ChrX:41474346 [GRCh38]
ChrX:41333599 [GRCh37]
ChrX:Xp11.4
not provided
NM_022567.2(NYX):c.92G>C (p.Cys31Ser) single nucleotide variant not provided [RCV000086277] ChrX:41473545 [GRCh38]
ChrX:41332798 [GRCh37]
ChrX:Xp11.4
not provided
NM_022567.2(NYX):c.935A>G (p.Asn312Ser) single nucleotide variant not provided [RCV000086278] ChrX:41474388 [GRCh38]
ChrX:41333641 [GRCh37]
ChrX:Xp11.4
likely pathogenic|not provided
NM_022567.2(NYX):c.1203G>A (p.Pro401=) single nucleotide variant not provided [RCV000082153] ChrX:41474656 [GRCh38]
ChrX:41333909 [GRCh37]
ChrX:Xp11.4
uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022826)x4 copy number gain See cases [RCV000133654] ChrX:10679..156022826 [GRCh38]
ChrX:60679..155252491 [GRCh37]
ChrX:679..154905685 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
NM_022567.2(NYX):c.1217C>G (p.Ala406Gly) single nucleotide variant Congenital stationary night blindness, type 1A [RCV001166052]|not specified [RCV000175939] ChrX:41474670 [GRCh38]
ChrX:41333923 [GRCh37]
ChrX:Xp11.4
benign
GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x3 copy number gain See cases [RCV000239834] ChrX:70297..58066465 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NC_000023.10:g.41333275A>T single nucleotide variant not provided [RCV001348633] ChrX:41474022 [GRCh38]
ChrX:41333275 [GRCh37]
ChrX:Xp11.4
uncertain significance
GRCh38/hg38 Xp22.33-11.22(chrX:10701-52857805)x1 copy number loss See cases [RCV000133817] ChrX:10701..52857805 [GRCh38]
ChrX:60701..52886834 [GRCh37]
ChrX:701..52903559 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-155978689)x1 copy number loss See cases [RCV000133792] ChrX:10701..155978689 [GRCh38]
ChrX:60701..155208354 [GRCh37]
ChrX:701..154861548 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:4245..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.23(chrX:10679-50059388)x1 copy number loss See cases [RCV000133745] ChrX:10679..50059388 [GRCh38]
ChrX:60679..49824045 [GRCh37]
ChrX:679..49710785 [NCBI36]
ChrX:Xp22.33-11.23
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-155999253)x3 copy number gain See cases [RCV000134564] ChrX:20297..155999253 [GRCh38]
ChrX:70297..155228918 [GRCh37]
ChrX:10297..154882112 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q11.1(chrX:10701-62712219)x1 copy number loss See cases [RCV000134568] ChrX:10701..62712219 [GRCh38]
ChrX:60701..61931689 [GRCh37]
ChrX:701..61848414 [NCBI36]
ChrX:Xp22.33-q11.1
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:10701-58055053)x1 copy number loss See cases [RCV000134026] ChrX:10701..58055053 [GRCh38]
ChrX:60701..58081487 [GRCh37]
ChrX:701..58098212 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x1 copy number loss See cases [RCV000133947] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp21.1-q28(chrX:37076284-156016920)x1 copy number loss See cases [RCV000135300] ChrX:37076284..156016920 [GRCh38]
ChrX:37094357..155246585 [GRCh37]
ChrX:37004278..154899779 [NCBI36]
ChrX:Xp21.1-q28
pathogenic
GRCh38/hg38 Xp22.31-11.22(chrX:8176030-53962833)x1 copy number loss See cases [RCV000135305] ChrX:8176030..53962833 [GRCh38]
ChrX:8144071..53989266 [GRCh37]
ChrX:8104071..54005991 [NCBI36]
ChrX:Xp22.31-11.22
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156026127)x1 copy number loss See cases [RCV000135321] ChrX:20297..156026127 [GRCh38]
ChrX:70297..155255792 [GRCh37]
ChrX:10297..154908986 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10679-52857805)x3 copy number gain See cases [RCV000134957] ChrX:10679..52857805 [GRCh38]
ChrX:60679..52886834 [GRCh37]
ChrX:679..52903559 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp21.1-q28(chrX:36237706-156022206)x1 copy number loss See cases [RCV000135552] ChrX:36237706..156022206 [GRCh38]
ChrX:36255823..155251871 [GRCh37]
ChrX:36165744..154905065 [NCBI36]
ChrX:Xp21.1-q28
pathogenic
GRCh38/hg38 Xp11.4(chrX:40883294-41689223)x2 copy number gain See cases [RCV000135419] ChrX:40883294..41689223 [GRCh38]
ChrX:40742547..41548476 [GRCh37]
ChrX:40627491..41433420 [NCBI36]
ChrX:Xp11.4
uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x1 copy number loss See cases [RCV000136097] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40904-155998166)x1 copy number loss See cases [RCV000136478] ChrX:40904..155998166 [GRCh38]
ChrX:90904..155227831 [GRCh37]
ChrX:30904..154881025 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q25(chrX:10701-128393708) copy number loss See cases [RCV000136094] ChrX:10701..128393708 [GRCh38]
ChrX:60701..127527686 [GRCh37]
ChrX:701..127355367 [NCBI36]
ChrX:Xp22.33-q25
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10001-156030895)x1 copy number loss See cases [RCV000136005] ChrX:10001..156030895 [GRCh38]
ChrX:60001..155260560 [GRCh37]
ChrX:1..154913754 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10679-52213731)x1 copy number loss See cases [RCV000137112] ChrX:10679..52213731 [GRCh38]
ChrX:60679..51948998 [GRCh37]
ChrX:679..51973598 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic|uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:2765636-155522304)x3 copy number gain See cases [RCV000136791] ChrX:2765636..155522304 [GRCh38]
ChrX:2683677..154751965 [GRCh37]
ChrX:2693677..154405159 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2782275-155611794)x2 copy number gain See cases [RCV000136841] ChrX:2782275..155611794 [GRCh38]
ChrX:2700316..154785891 [GRCh37]
ChrX:2710316..154494649 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10701-52033734)x1 copy number loss See cases [RCV000137430] ChrX:10701..52033734 [GRCh38]
ChrX:60701..51776830 [GRCh37]
ChrX:701..51793570 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:10701-58055036)x1 copy number loss See cases [RCV000137552] ChrX:10701..58055036 [GRCh38]
ChrX:60701..58081470 [GRCh37]
ChrX:701..58098195 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-11.23(chrX:10701-49071220)x1 copy number loss See cases [RCV000137413] ChrX:10701..49071220 [GRCh38]
ChrX:60701..48928877 [GRCh37]
ChrX:701..48815821 [NCBI36]
ChrX:Xp22.33-11.23
pathogenic
GRCh38/hg38 Xp22.33-11.23(chrX:10679-49157514)x1 copy number loss See cases [RCV000137166] ChrX:10679..49157514 [GRCh38]
ChrX:60679..49016667 [GRCh37]
ChrX:679..48903611 [NCBI36]
ChrX:Xp22.33-11.23
pathogenic
GRCh38/hg38 Xp22.33-q13.3(chrX:10679-76420505)x3 copy number gain See cases [RCV000137137] ChrX:10679..76420505 [GRCh38]
ChrX:60679..75640898 [GRCh37]
ChrX:679..75557302 [NCBI36]
ChrX:Xp22.33-q13.3
pathogenic|likely benign
GRCh38/hg38 Xp22.33-q22.3(chrX:10701-106113403)x1 copy number loss See cases [RCV000137886] ChrX:10701..106113403 [GRCh38]
ChrX:60701..105357395 [GRCh37]
ChrX:701..105244051 [NCBI36]
ChrX:Xp22.33-q22.3
pathogenic
GRCh38/hg38 Xp22.2-q27.3(chrX:13020141-143473520)x1 copy number loss See cases [RCV000138678] ChrX:13020141..143473520 [GRCh38]
ChrX:13038260..142561303 [GRCh37]
ChrX:12948181..142388969 [NCBI36]
ChrX:Xp22.2-q27.3
pathogenic
GRCh38/hg38 Xp22.33-11.1(chrX:10701-58517661)x1 copy number loss See cases [RCV000139343] ChrX:10701..58517661 [GRCh38]
ChrX:60701..58544094 [GRCh37]
ChrX:701..58560819 [NCBI36]
ChrX:Xp22.33-11.1
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:1085618-155699644)x1 copy number loss See cases [RCV000139278] ChrX:1085618..155699644 [GRCh38]
ChrX:1118268..154929305 [GRCh37]
ChrX:1038268..154582499 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q21.31(chrX:10701-88318651)x1 copy number loss See cases [RCV000139352] ChrX:10701..88318651 [GRCh38]
ChrX:60701..87573652 [GRCh37]
ChrX:701..87460308 [NCBI36]
ChrX:Xp22.33-q21.31
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004181)x3 copy number gain See cases [RCV000139888] ChrX:251880..156004181 [GRCh38]
ChrX:168547..155233846 [GRCh37]
ChrX:108547..154887040 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2299223-155992188)x3 copy number gain See cases [RCV000141400] ChrX:2299223..155992188 [GRCh38]
ChrX:2217264..155221853 [GRCh37]
ChrX:2227264..154875047 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156016920)x3 copy number gain See cases [RCV000141401] ChrX:20297..156016920 [GRCh38]
ChrX:70297..155246585 [GRCh37]
ChrX:10297..154899779 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x4 copy number gain See cases [RCV000140786] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10701-53750424)x1 copy number loss See cases [RCV000140711] ChrX:10701..53750424 [GRCh38]
ChrX:60701..53776922 [GRCh37]
ChrX:701..53793647 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x1 copy number loss See cases [RCV000140787] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic|conflicting data from submitters
GRCh38/hg38 Xp22.33-11.22(chrX:251879-50289363)x1 copy number loss See cases [RCV000141741] ChrX:251879..50289363 [GRCh38]
ChrX:168546..50032363 [GRCh37]
ChrX:108546..50049103 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q12(chrX:251880-66445845)x1 copy number loss See cases [RCV000142334] ChrX:251880..66445845 [GRCh38]
ChrX:168547..65665687 [GRCh37]
ChrX:108547..65582412 [NCBI36]
ChrX:Xp22.33-q12
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:251880-51643625)x1 copy number loss See cases [RCV000142035] ChrX:251880..51643625 [GRCh38]
ChrX:168547..51386559 [GRCh37]
ChrX:108547..51403299 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q24(chrX:251879-118847157)x3 copy number gain See cases [RCV000142134] ChrX:251879..118847157 [GRCh38]
ChrX:168546..117981120 [GRCh37]
ChrX:108546..117865148 [NCBI36]
ChrX:Xp22.33-q24
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x3 copy number gain See cases [RCV000142625] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x1 copy number loss See cases [RCV000143441] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:108546..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x3 copy number gain See cases [RCV000143433] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10701-53131191)x1 copy number loss See cases [RCV000143348] ChrX:10701..53131191 [GRCh38]
ChrX:60701..53047381 [GRCh37]
ChrX:701..53177098 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:251879-56428859)x1 copy number loss See cases [RCV000143130] ChrX:251879..56428859 [GRCh38]
ChrX:168546..56455292 [GRCh37]
ChrX:108546..56472017 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x3 copy number gain See cases [RCV000143219] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:108547..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000148141] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000148135] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3 copy number gain See cases [RCV000240122] ChrX:71267..155246643 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3 copy number gain See cases [RCV000239843] ChrX:176426..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x1 copy number loss See cases [RCV000239814] ChrX:70297..58066465 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1 copy number loss See cases [RCV000239832] ChrX:71267..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3 copy number gain See cases [RCV000239798] ChrX:13147668..155250222 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3 copy number gain See cases [RCV000239934] ChrX:70297..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2 copy number gain See cases [RCV000240106] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:553069-155233731)x1 copy number loss See cases [RCV000446026] ChrX:553069..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1 copy number loss See cases [RCV000239902] ChrX:71267..155224766 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3 copy number gain See cases [RCV000239989] ChrX:60701..155246271 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2 copy number gain See cases [RCV000239874] ChrX:71267..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3 copy number gain See cases [RCV000240552] ChrX:176426..155236656 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3 copy number gain See cases [RCV000240314] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2 copy number gain See cases [RCV000240464] ChrX:225816..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2 copy number gain See cases [RCV000240541] ChrX:2707626..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_022567.2(NYX):c.*157C>G single nucleotide variant Congenital stationary night blindness, type 1A [RCV000259752] ChrX:41475056 [GRCh38]
ChrX:41334309 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_022567.2(NYX):c.843G>A (p.Glu281=) single nucleotide variant Congenital stationary night blindness, type 1A [RCV000306533]|not provided [RCV000894500] ChrX:41474296 [GRCh38]
ChrX:41333549 [GRCh37]
ChrX:Xp11.4
benign|likely benign
NM_022567.2(NYX):c.-314A>G single nucleotide variant Congenital stationary night blindness, type 1A [RCV000310475] ChrX:41447576 [GRCh38]
ChrX:41306829 [GRCh37]
ChrX:Xp11.4
benign
NM_022567.2(NYX):c.-279T>C single nucleotide variant Congenital stationary night blindness, type 1A [RCV000365157] ChrX:41447611 [GRCh38]
ChrX:41306864 [GRCh37]
ChrX:Xp11.4
benign
NM_022567.2(NYX):c.*736G>C single nucleotide variant Congenital stationary night blindness, type 1A [RCV000348527] ChrX:41475635 [GRCh38]
ChrX:41334888 [GRCh37]
ChrX:Xp11.4
likely benign
NM_022567.2(NYX):c.*103G>A single nucleotide variant Congenital stationary night blindness, type 1A [RCV000373126] ChrX:41475002 [GRCh38]
ChrX:41334255 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_022567.2(NYX):c.*509G>C single nucleotide variant Congenital stationary night blindness, type 1A [RCV000388103] ChrX:41475408 [GRCh38]
ChrX:41334661 [GRCh37]
ChrX:Xp11.4
benign
NM_022567.2(NYX):c.*414C>T single nucleotide variant Congenital stationary night blindness, type 1A [RCV000333532] ChrX:41475313 [GRCh38]
ChrX:41334566 [GRCh37]
ChrX:Xp11.4
likely benign
NM_022567.2(NYX):c.*734_*735dup duplication Congenital stationary night blindness, X-linked [RCV000293665] ChrX:41475621..41475622 [GRCh38]
ChrX:41334874..41334875 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_022567.2(NYX):c.1253C>G (p.Ser418Cys) single nucleotide variant Congenital stationary night blindness, type 1A [RCV000358003]|not provided [RCV000898611] ChrX:41474706 [GRCh38]
ChrX:41333959 [GRCh37]
ChrX:Xp11.4
benign|likely benign
NM_022567.2(NYX):c.1035G>A (p.Glu345=) single nucleotide variant Congenital stationary night blindness, type 1A [RCV000361340]|not provided [RCV000910013] ChrX:41474488 [GRCh38]
ChrX:41333741 [GRCh37]
ChrX:Xp11.4
benign|likely benign|uncertain significance
NM_022567.2(NYX):c.*16del deletion Congenital stationary night blindness, X-linked [RCV000262785] ChrX:41474910 [GRCh38]
ChrX:41334163 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_022567.2(NYX):c.*72T>C single nucleotide variant Congenital stationary night blindness, type 1A [RCV000317949] ChrX:41474971 [GRCh38]
ChrX:41334224 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_022567.2(NYX):c.1198G>A (p.Gly400Ser) single nucleotide variant Congenital stationary night blindness, type 1A [RCV000266696] ChrX:41474651 [GRCh38]
ChrX:41333904 [GRCh37]
ChrX:Xp11.4
likely benign
NM_022567.2(NYX):c.1227C>T (p.Thr409=) single nucleotide variant Congenital stationary night blindness, type 1A [RCV000303171] ChrX:41474680 [GRCh38]
ChrX:41333933 [GRCh37]
ChrX:Xp11.4
likely benign
NM_022567.2(NYX):c.-328T>C single nucleotide variant Congenital stationary night blindness, type 1A [RCV000406263] ChrX:41447562 [GRCh38]
ChrX:41306815 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_022567.2(NYX):c.-86T>G single nucleotide variant Congenital stationary night blindness, type 1A [RCV000406613] ChrX:41447804 [GRCh38]
ChrX:41307057 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_022567.2(NYX):c.1093C>T (p.Pro365Ser) single nucleotide variant not provided [RCV000523903] ChrX:41474546 [GRCh38]
ChrX:41333799 [GRCh37]
ChrX:Xp11.4
uncertain significance
GRCh37/hg19 Xp22.2-q25(chrX:11692290-121187337)x2 copy number gain not provided [RCV000488046] ChrX:11692290..121187337 [GRCh37]
ChrX:Xp22.2-q25
uncertain significance
NM_022567.2(NYX):c.1354G>T (p.Gly452Ter) single nucleotide variant not provided [RCV000579338] ChrX:41474807 [GRCh38]
ChrX:41334060 [GRCh37]
ChrX:Xp11.4
likely pathogenic|conflicting interpretations of pathogenicity
Single allele duplication Syndromic X-linked intellectual disability Lubs type [RCV000768455] ChrX:15323210..153542100 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
NM_022567.2(NYX):c.932G>T (p.Gly311Val) single nucleotide variant not provided [RCV000593286] ChrX:41474385 [GRCh38]
ChrX:41333638 [GRCh37]
ChrX:Xp11.4
uncertain significance
NC_000023.10:g.(?_39911342)_(41782261_?)dup duplication Mental retardation, X-linked, syndromic, Hedera type [RCV000640920] ChrX:39911342..41782261 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_022567.2(NYX):c.582C>A (p.Ile194=) single nucleotide variant Congenital stationary night blindness, type 1A [RCV001168944]|not provided [RCV000732111] ChrX:41474035 [GRCh38]
ChrX:41333288 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_022567.2(NYX):c.38-1_38delinsTT indel not provided [RCV000595436] ChrX:41473490..41473491 [GRCh38]
ChrX:41332743..41332744 [GRCh37]
ChrX:Xp11.4
pathogenic
GRCh37/hg19 Xp22.33-11.23(chrX:60814-48317386)x1 copy number loss not provided [RCV000753273] ChrX:60814..48317386 [GRCh37]
ChrX:Xp22.33-11.23
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-154930047)x3 copy number gain See cases [RCV000449437] ChrX:168546..154930047 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3 copy number gain See cases [RCV000449330] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.3(chrX:168546-43917011)x3 copy number gain See cases [RCV000449393] ChrX:168546..43917011 [GRCh37]
ChrX:Xp22.33-11.3
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792) copy number loss See cases [RCV000449461] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-55529093)x1 copy number loss See cases [RCV000446584] ChrX:168546..55529093 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-56684082)x1 copy number loss See cases [RCV000447092] ChrX:168546..56684082 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246225)x3 copy number gain See cases [RCV000446270] ChrX:60701..155246225 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2703632-155233731)x1 copy number loss See cases [RCV000446712] ChrX:2703632..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.22(chrX:168546-52573789)x1 copy number loss See cases [RCV000447470] ChrX:168546..52573789 [GRCh37]
ChrX:Xp22.33-11.22
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255792)x1 copy number loss See cases [RCV000446197] ChrX:71267..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:318707-155224707)x1 copy number loss See cases [RCV000446667] ChrX:318707..155224707 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain See cases [RCV000446932] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155196888)x3 copy number gain See cases [RCV000446310] ChrX:168546..155196888 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155081533)x3 copy number gain See cases [RCV000447253] ChrX:168546..155081533 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_022567.2(NYX):c.992_997TCTTCC[1] (p.331_332LF[1]) microsatellite Congenital stationary night blindness [RCV000504858] ChrX:41474443..41474448 [GRCh38]
ChrX:41333696..41333701 [GRCh37]
ChrX:Xp11.4
likely pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168566-155233731)x1 copy number loss See cases [RCV000445720] ChrX:168566..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp21.1-11.3(chrX:36667388-44316141)x1 copy number loss See cases [RCV000446005] ChrX:36667388..44316141 [GRCh37]
ChrX:Xp21.1-11.3
pathogenic
NM_022567.2(NYX):c.936C>G (p.Asn312Lys) single nucleotide variant Abnormality of the eye [RCV000504669] ChrX:41474389 [GRCh38]
ChrX:41333642 [GRCh37]
ChrX:Xp11.4
likely pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss See cases [RCV000448393] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)x4 copy number gain See cases [RCV000448034] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.1(chrX:168546-58140271)x1 copy number loss See cases [RCV000447773] ChrX:168546..58140271 [GRCh37]
ChrX:Xp22.33-11.1
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155246585)x1 copy number loss See cases [RCV000448652] ChrX:70297..155246585 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp11.4-11.3(chrX:40933552-45379179)x2 copy number gain See cases [RCV000448864] ChrX:40933552..45379179 [GRCh37]
ChrX:Xp11.4-11.3
likely pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-55240087)x1 copy number loss See cases [RCV000512136] ChrX:168546..55240087 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-151304063)x1 copy number loss See cases [RCV000510382] ChrX:168547..151304063 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q23(chrX:168547-112474026)x1 copy number loss See cases [RCV000510419] ChrX:168547..112474026 [GRCh37]
ChrX:Xp22.33-q23
pathogenic
GRCh37/hg19 Xp22.33-11.1(chrX:168546-58527164)x1 copy number loss See cases [RCV000510437] ChrX:168546..58527164 [GRCh37]
ChrX:Xp22.33-11.1
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-57504183)x1 copy number loss See cases [RCV000511615] ChrX:168546..57504183 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-57683964)x1 copy number loss See cases [RCV000512022] ChrX:168546..57683964 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp21.1-q22.1(chrX:37521774-98488534)x1 copy number loss See cases [RCV000512026] ChrX:37521774..98488534 [GRCh37]
ChrX:Xp21.1-q22.1
pathogenic
GRCh37/hg19 Xp11.4-11.23(chrX:41150139-46528262)x1 copy number loss See cases [RCV000511364] ChrX:41150139..46528262 [GRCh37]
ChrX:Xp11.4-11.23
pathogenic
GRCh37/hg19 Xp21.2-q28(chrX:31088082-155233731)x1 copy number loss See cases [RCV000511413] ChrX:31088082..155233731 [GRCh37]
ChrX:Xp21.2-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-155233731) copy number gain See cases [RCV000512020] ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-54996659)x1 copy number loss See cases [RCV000510822] ChrX:168546..54996659 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-q13.3(chrX:168546-74549686) copy number loss See cases [RCV000512142] ChrX:168546..74549686 [GRCh37]
ChrX:Xp22.33-q13.3
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168564-57413442)x1 copy number loss See cases [RCV000512339] ChrX:168564..57413442 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
Single allele duplication not provided [RCV000677963] ChrX:41194996..41504859 [GRCh37]
ChrX:Xp11.4
uncertain significance
GRCh37/hg19 Xp22.33-11.23(chrX:168546-46908284)x1 copy number loss not provided [RCV000684185] ChrX:168546..46908284 [GRCh37]
ChrX:Xp22.33-11.23
pathogenic
GRCh37/hg19 Xp22.31-q21.31(chrX:7841947-90815333)x1,2 copy number gain not provided [RCV000684261] ChrX:7841947..90815333 [GRCh37]
ChrX:Xp22.31-q21.31
pathogenic
GRCh37/hg19 Xp22.33-11.3(chrX:168546-43248706)x1 copy number loss not provided [RCV000684184] ChrX:168546..43248706 [GRCh37]
ChrX:Xp22.33-11.3
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:60814-55476165)x1 copy number loss not provided [RCV000753275] ChrX:60814..55476165 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_022567.2(NYX):c.350T>A (p.Leu117Gln) single nucleotide variant Congenital stationary night blindness [RCV001003098]|not provided [RCV001312805] ChrX:41473803 [GRCh38]
ChrX:41333056 [GRCh37]
ChrX:Xp11.4
likely pathogenic|uncertain significance
GRCh37/hg19 Xp22.33-11.22(chrX:60814-51821765)x1 copy number loss not provided [RCV000753274] ChrX:60814..51821765 [GRCh37]
ChrX:Xp22.33-11.22
pathogenic
GRCh37/hg19 Xp22.33-q11.1(chrX:168546-61877279)x1 copy number loss not provided [RCV000846273] ChrX:168546..61877279 [GRCh37]
ChrX:Xp22.33-q11.1
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155254881)x2 copy number gain not provided [RCV000753277] ChrX:60814..155254881 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x1 copy number loss not provided [RCV000753271] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x3 copy number gain not provided [RCV000753272] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:181779-155171702)x1 copy number loss not provided [RCV000753278] ChrX:181779..155171702 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
Single allele duplication Autistic disorder of childhood onset [RCV000754365] ChrX:1..156040895 [GRCh38]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155236712)x2 copy number gain not provided [RCV000753276] ChrX:60814..155236712 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NC_000023.10:g.36649710_136649711del100000002insG indel Heterotaxy, visceral, 1, X-linked [RCV000754886] ChrX:36649710..136649711 [GRCh37]
ChrX:Xp21.1-q26.3
pathogenic
NM_001378477.1(NYX):c.538G>C (p.Gly180Arg) single nucleotide variant not provided [RCV001038369] ChrX:41473991 [GRCh38]
ChrX:41333244 [GRCh37]
ChrX:Xp11.4
uncertain significance
GRCh37/hg19 Xp22.33-11.21(chrX:539722-55509385)x1 copy number loss not provided [RCV001007224] ChrX:539722..55509385 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_001378477.1(NYX):c.134C>T (p.Ser45Leu) single nucleotide variant not provided [RCV001038819] ChrX:41473587 [GRCh38]
ChrX:41332840 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_001378477.1(NYX):c.587C>T (p.Ala196Val) single nucleotide variant Retinal dystrophy [RCV001074038] ChrX:41474040 [GRCh38]
ChrX:41333293 [GRCh37]
ChrX:Xp11.4
uncertain significance
46,Y,inv(X)(p21.1q13.3) inversion Elevated serum creatine phosphokinase [RCV000856573] ChrX:32196272..75245806 [GRCh37]
ChrX:Xp21.1-q13.3
likely pathogenic
NM_022567.2(NYX):c.1278G>A (p.Pro426=) single nucleotide variant not provided [RCV000918421] ChrX:41474731 [GRCh38]
ChrX:41333984 [GRCh37]
ChrX:Xp11.4
likely benign
NM_022567.2(NYX):c.1086C>T (p.Cys362=) single nucleotide variant not provided [RCV000896866] ChrX:41474539 [GRCh38]
ChrX:41333792 [GRCh37]
ChrX:Xp11.4
likely benign
NM_022567.2(NYX):c.438C>T (p.Arg146=) single nucleotide variant not provided [RCV000938143] ChrX:41473891 [GRCh38]
ChrX:41333144 [GRCh37]
ChrX:Xp11.4
likely benign
GRCh37/hg19 Xp11.4-q21.32(chrX:40572613-92796528)x1 copy number loss not provided [RCV000845670] ChrX:40572613..92796528 [GRCh37]
ChrX:Xp11.4-q21.32
pathogenic
NM_001378477.1(NYX):c.383C>T (p.Ala128Val) single nucleotide variant Congenital stationary night blindness, type 1A [RCV001168943] ChrX:41473836 [GRCh38]
ChrX:41333089 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_001378477.1(NYX):c.*744C>T single nucleotide variant Congenital stationary night blindness, type 1A [RCV001168264] ChrX:41475643 [GRCh38]
ChrX:41334896 [GRCh37]
ChrX:Xp11.4
uncertain significance
GRCh37/hg19 Xp22.33-11.22(chrX:60814-50519984)x1 copy number loss See cases [RCV000790583] ChrX:60814..50519984 [GRCh37]
ChrX:Xp22.33-11.22
pathogenic
NM_022567.2(NYX):c.537C>T (p.Arg179=) single nucleotide variant not provided [RCV000975226] ChrX:41473990 [GRCh38]
ChrX:41333243 [GRCh37]
ChrX:Xp11.4
likely benign
Single allele deletion Neurodevelopmental disorder [RCV000787440] ChrX:1..47140860 [GRCh37]
ChrX:Xp22.33-11.23
pathogenic
GRCh37/hg19 Xp21.1-11.3(chrX:32849282-43713387)x1 copy number loss not provided [RCV001007291] ChrX:32849282..43713387 [GRCh37]
ChrX:Xp21.1-11.3
pathogenic
NM_001378477.1(NYX):c.137T>G (p.Val46Gly) single nucleotide variant not provided [RCV001202204] ChrX:41473590 [GRCh38]
ChrX:41332843 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_001378477.1(NYX):c.1066C>T (p.Arg356Cys) single nucleotide variant not provided [RCV001214053] ChrX:41474519 [GRCh38]
ChrX:41333772 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_001378477.1(NYX):c.150C>T (p.Arg50=) single nucleotide variant not provided [RCV001233732] ChrX:41473603 [GRCh38]
ChrX:41332856 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_001378477.1(NYX):c.515G>A (p.Arg172His) single nucleotide variant not provided [RCV001232025] ChrX:41473968 [GRCh38]
ChrX:41333221 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_001378477.1(NYX):c.386G>C (p.Arg129Pro) single nucleotide variant not provided [RCV001238602] ChrX:41473839 [GRCh38]
ChrX:41333092 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_001378477.1(NYX):c.334C>G (p.Leu112Val) single nucleotide variant not provided [RCV001226203] ChrX:41473787 [GRCh38]
ChrX:41333040 [GRCh37]
ChrX:Xp11.4
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss not provided [RCV000848828] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain not provided [RCV000846039] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_001378477.1(NYX):c.1382T>C (p.Leu461Pro) single nucleotide variant not provided [RCV001247596] ChrX:41474835 [GRCh38]
ChrX:41334088 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_001378477.1(NYX):c.-42+99T>C single nucleotide variant Congenital stationary night blindness, type 1A [RCV001168193] ChrX:41447615 [GRCh38]
ChrX:41306868 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_022567.2(NYX):c.1111C>T (p.Leu371=) single nucleotide variant not provided [RCV000895092] ChrX:41474564 [GRCh38]
ChrX:41333817 [GRCh37]
ChrX:Xp11.4
likely benign
NM_022567.2(NYX):c.773C>T (p.Thr258Met) single nucleotide variant not provided [RCV000887317] ChrX:41474226 [GRCh38]
ChrX:41333479 [GRCh37]
ChrX:Xp11.4
benign
NM_001378477.1(NYX):c.352G>A (p.Ala118Thr) single nucleotide variant not provided [RCV001226108] ChrX:41473805 [GRCh38]
ChrX:41333058 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_001378477.1(NYX):c.1316A>G (p.Asn439Ser) single nucleotide variant not provided [RCV001226173] ChrX:41474769 [GRCh38]
ChrX:41334022 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_001378477.1(NYX):c.761G>A (p.Arg254Gln) single nucleotide variant not provided [RCV001243755] ChrX:41474214 [GRCh38]
ChrX:41333467 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_001378477.1(NYX):c.1420G>A (p.Val474Met) single nucleotide variant not provided [RCV001053157] ChrX:41474873 [GRCh38]
ChrX:41334126 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_001378477.1(NYX):c.811C>T (p.Arg271Cys) single nucleotide variant not provided [RCV001053158] ChrX:41474264 [GRCh38]
ChrX:41333517 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_001378477.1(NYX):c.1231A>G (p.Ser411Gly) single nucleotide variant not provided [RCV001224674] ChrX:41474684 [GRCh38]
ChrX:41333937 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_001378477.1(NYX):c.470A>C (p.Glu157Ala) single nucleotide variant not provided [RCV001209756] ChrX:41473923 [GRCh38]
ChrX:41333176 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_001378477.1(NYX):c.808G>A (p.Ala270Thr) single nucleotide variant not provided [RCV001244105] ChrX:41474261 [GRCh38]
ChrX:41333514 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_022567.2(NYX):c.1180C>T (p.Leu394Phe) single nucleotide variant not provided [RCV000889182] ChrX:41474633 [GRCh38]
ChrX:41333886 [GRCh37]
ChrX:Xp11.4
benign
NM_022567.2(NYX):c.1251C>T (p.Leu417=) single nucleotide variant not provided [RCV000889183] ChrX:41474704 [GRCh38]
ChrX:41333957 [GRCh37]
ChrX:Xp11.4
benign
NM_022567.2(NYX):c.1394G>T (p.Cys465Phe) single nucleotide variant Congenital stationary night blindness, type 1A [RCV001166053]|not provided [RCV000934197] ChrX:41474847 [GRCh38]
ChrX:41334100 [GRCh37]
ChrX:Xp11.4
benign|likely benign
NM_022567.2(NYX):c.496G>C (p.Ala166Pro) single nucleotide variant Congenital stationary night blindness [RCV001003099] ChrX:41473949 [GRCh38]
ChrX:41333202 [GRCh37]
ChrX:Xp11.4
likely pathogenic
NM_001378477.1(NYX):c.802C>G (p.Arg268Gly) single nucleotide variant Congenital stationary night blindness, type 1A [RCV001168947] ChrX:41474255 [GRCh38]
ChrX:41333508 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_022567.2(NYX):c.797T>C (p.Leu266Pro) single nucleotide variant Congenital stationary night blindness [RCV001003100] ChrX:41474250 [GRCh38]
ChrX:41333503 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_001378477.1(NYX):c.826_848del (p.Asp276fs) deletion Retinal dystrophy [RCV001074015] ChrX:41474276..41474298 [GRCh38]
ChrX:41333529..41333551 [GRCh37]
ChrX:Xp11.4
likely pathogenic
NM_001378477.1(NYX):c.*383G>T single nucleotide variant Congenital stationary night blindness, type 1A [RCV001167622] ChrX:41475282 [GRCh38]
ChrX:41334535 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_001378477.1(NYX):c.332G>C (p.Arg111Pro) single nucleotide variant Retinal dystrophy [RCV001074980] ChrX:41473785 [GRCh38]
ChrX:41333038 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_001378477.1(NYX):c.239G>C (p.Arg80Pro) single nucleotide variant Retinal dystrophy [RCV001075519] ChrX:41473692 [GRCh38]
ChrX:41332945 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_001378477.1(NYX):c.163C>T (p.Arg55Trp) single nucleotide variant Congenital stationary night blindness, type 1A [RCV001168941] ChrX:41473616 [GRCh38]
ChrX:41332869 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_001378477.1(NYX):c.660C>G (p.Ala220=) single nucleotide variant Congenital stationary night blindness, type 1A [RCV001168945] ChrX:41474113 [GRCh38]
ChrX:41333366 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_001378477.1(NYX):c.737C>T (p.Pro246Leu) single nucleotide variant Congenital stationary night blindness, type 1A [RCV001168946] ChrX:41474190 [GRCh38]
ChrX:41333443 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_001378477.1(NYX):c.222G>A (p.Leu74=) single nucleotide variant Congenital stationary night blindness, type 1A [RCV001168942] ChrX:41473675 [GRCh38]
ChrX:41332928 [GRCh37]
ChrX:Xp11.4
benign
NM_001378477.1(NYX):c.1429G>A (p.Gly477Ser) single nucleotide variant not provided [RCV001232334] ChrX:41474882 [GRCh38]
ChrX:41334135 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_001378477.1(NYX):c.952G>A (p.Ala318Thr) single nucleotide variant not provided [RCV001046962] ChrX:41474405 [GRCh38]
ChrX:41333658 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_001378477.1(NYX):c.479C>T (p.Ala160Val) single nucleotide variant not provided [RCV001203299] ChrX:41473932 [GRCh38]
ChrX:41333185 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_001378477.1(NYX):c.619_627dup (p.Arg207_Arg209dup) duplication Congenital stationary night blindness, type 1A [RCV001199040]|not provided [RCV001230022] ChrX:41474063..41474064 [GRCh38]
ChrX:41333316..41333317 [GRCh37]
ChrX:Xp11.4
likely pathogenic|uncertain significance
NM_001378477.1(NYX):c.*140G>A single nucleotide variant Congenital stationary night blindness, type 1A [RCV001167620] ChrX:41475039 [GRCh38]
ChrX:41334292 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_001378477.1(NYX):c.*152A>G single nucleotide variant Congenital stationary night blindness, type 1A [RCV001167621] ChrX:41475051 [GRCh38]
ChrX:41334304 [GRCh37]
ChrX:Xp11.4
likely benign
NM_001378477.1(NYX):c.125G>A (p.Arg42His) single nucleotide variant not provided [RCV001037843] ChrX:41473578 [GRCh38]
ChrX:41332831 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_001378477.1(NYX):c.724_725delinsGG (p.Leu242Gly) indel Retinal dystrophy [RCV001073883] ChrX:41474177..41474178 [GRCh38]
ChrX:41333430..41333431 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_022567.2(NYX):c.1018T>G (p.Cys340Gly) single nucleotide variant Congenital stationary night blindness [RCV001003101] ChrX:41474471 [GRCh38]
ChrX:41333724 [GRCh37]
ChrX:Xp11.4
likely pathogenic
NM_022567.2(NYX):c.1261_1262dup (p.Ala422fs) duplication Congenital stationary night blindness [RCV001003103] ChrX:41474713..41474714 [GRCh38]
ChrX:41333966..41333967 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_001378477.1(NYX):c.296C>T (p.Ser99Phe) single nucleotide variant not provided [RCV001228222] ChrX:41473749 [GRCh38]
ChrX:41333002 [GRCh37]
ChrX:Xp11.4
uncertain significance
NC_000023.11:g.41474520_41474521GT[1] microsatellite Congenital stationary night blindness [RCV001003102] ChrX:41474520..41474521 [GRCh38]
ChrX:41333773..41333774 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_001378477.1(NYX):c.610_618dup (p.Gly204_Arg206dup) duplication not provided [RCV001040973] ChrX:41474062..41474063 [GRCh38]
ChrX:41333315..41333316 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_001378477.1(NYX):c.925C>G (p.Leu309Val) single nucleotide variant not provided [RCV001041279] ChrX:41474378 [GRCh38]
ChrX:41333631 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_001378477.1(NYX):c.618_761del (p.Ser210_Arg257del) deletion Retinal dystrophy [RCV001075756] ChrX:41474063..41474206 [GRCh38]
ChrX:41333316..41333459 [GRCh37]
ChrX:Xp11.4
likely pathogenic
GRCh37/hg19 Xp11.4-11.3(chrX:41150139-43976458) copy number loss Microcephaly [RCV001252950] ChrX:41150139..43976458 [GRCh37]
ChrX:Xp11.4-11.3
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:219609-55466476)x1 copy number loss See cases [RCV001263061] ChrX:219609..55466476 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_001378477.1(NYX):c.647A>G (p.Asn216Ser) single nucleotide variant not provided [RCV001268596] ChrX:41474100 [GRCh38]
ChrX:41333353 [GRCh37]
ChrX:Xp11.4
pathogenic
NC_000023.10:g.41333137C>T single nucleotide variant not provided [RCV001317404] ChrX:41473884 [GRCh38]
ChrX:41333137 [GRCh37]
ChrX:Xp11.4
uncertain significance
NC_000023.10:g.41333311T>C single nucleotide variant not provided [RCV001298148] ChrX:41474058 [GRCh38]
ChrX:41333311 [GRCh37]
ChrX:Xp11.4
uncertain significance
GRCh37/hg19 Xp11.4-11.3(chrX:39645568-44199000) copy number loss Cardiomyopathy [RCV001352652] ChrX:39645568..44199000 [GRCh37]
ChrX:Xp11.4-11.3
pathogenic
NC_000023.10:g.41332873T>C single nucleotide variant not provided [RCV001342465] ChrX:41473620 [GRCh38]
ChrX:41332873 [GRCh37]
ChrX:Xp11.4
uncertain significance
NC_000023.10:g.41334054G>C single nucleotide variant not provided [RCV001325735] ChrX:41474801 [GRCh38]
ChrX:41334054 [GRCh37]
ChrX:Xp11.4
uncertain significance
NC_000023.10:g.41333420C>G single nucleotide variant not provided [RCV001325157] ChrX:41474167 [GRCh38]
ChrX:41333420 [GRCh37]
ChrX:Xp11.4
uncertain significance
GRCh37/hg19 Xp22.33-11.21(chrX:168546-56457794)x1 copy number loss not provided [RCV001281358] ChrX:168546..56457794 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NC_000023.10:g.(?_41332744)_(41334152_?)del deletion not provided [RCV001325535] ChrX:41332744..41334152 [GRCh37]
ChrX:Xp11.4
uncertain significance
NC_000023.10:g.41333419A>T single nucleotide variant not provided [RCV001326591] ChrX:41474166 [GRCh38]
ChrX:41333419 [GRCh37]
ChrX:Xp11.4
uncertain significance
NC_000023.10:g.41333963G>T single nucleotide variant not provided [RCV001321289] ChrX:41474710 [GRCh38]
ChrX:41333963 [GRCh37]
ChrX:Xp11.4
uncertain significance
NC_000023.10:g.41333163C>T single nucleotide variant not provided [RCV001338227] ChrX:41473910 [GRCh38]
ChrX:41333163 [GRCh37]
ChrX:Xp11.4
uncertain significance
NC_000023.10:g.41333611C>T single nucleotide variant not provided [RCV001319932] ChrX:41474358 [GRCh38]
ChrX:41333611 [GRCh37]
ChrX:Xp11.4
uncertain significance
NC_000023.10:g.41333353A>C single nucleotide variant not provided [RCV001320193] ChrX:41474100 [GRCh38]
ChrX:41333353 [GRCh37]
ChrX:Xp11.4
uncertain significance
NC_000023.10:g.41334025C>A single nucleotide variant not provided [RCV001324026] ChrX:41474772 [GRCh38]
ChrX:41334025 [GRCh37]
ChrX:Xp11.4
uncertain significance
NC_000023.10:g.41333585G>A single nucleotide variant not provided [RCV001350519] ChrX:41474332 [GRCh38]
ChrX:41333585 [GRCh37]
ChrX:Xp11.4
uncertain significance
NC_000023.10:g.41332881G>A single nucleotide variant not provided [RCV001322397] ChrX:41473628 [GRCh38]
ChrX:41332881 [GRCh37]
ChrX:Xp11.4
uncertain significance
NC_000023.10:g.41333939C>G single nucleotide variant not provided [RCV001308282] ChrX:41474686 [GRCh38]
ChrX:41333939 [GRCh37]
ChrX:Xp11.4
uncertain significance
NC_000023.10:g.41333121C>A single nucleotide variant not provided [RCV001323745] ChrX:41473868 [GRCh38]
ChrX:41333121 [GRCh37]
ChrX:Xp11.4
uncertain significance
NC_000023.10:g.41333373G>C single nucleotide variant not provided [RCV001319797] ChrX:41474120 [GRCh38]
ChrX:41333373 [GRCh37]
ChrX:Xp11.4
uncertain significance
NC_000023.10:g.41333274G>C single nucleotide variant not provided [RCV001349677] ChrX:41474021 [GRCh38]
ChrX:41333274 [GRCh37]
ChrX:Xp11.4
uncertain significance
NC_000023.10:g.41333923C>T single nucleotide variant not provided [RCV001318566] ChrX:41474670 [GRCh38]
ChrX:41333923 [GRCh37]
ChrX:Xp11.4
uncertain significance
NC_000023.10:g.41333752A>T single nucleotide variant not provided [RCV001341161] ChrX:41474499 [GRCh38]
ChrX:41333752 [GRCh37]
ChrX:Xp11.4
uncertain significance
NC_000023.10:g.41333030C>T single nucleotide variant not provided [RCV001327676] ChrX:41473777 [GRCh38]
ChrX:41333030 [GRCh37]
ChrX:Xp11.4
uncertain significance
NC_000023.10:g.41332779G>A single nucleotide variant not provided [RCV001326122] ChrX:41473526 [GRCh38]
ChrX:41332779 [GRCh37]
ChrX:Xp11.4
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:8082 AgrOrtholog
COSMIC NYX COSMIC
Ensembl Genes ENSG00000188937 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000340328 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000367465 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000342595 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000378220 ENTREZGENE, UniProtKB/Swiss-Prot
Gene3D-CATH 3.80.10.10 UniProtKB/Swiss-Prot
GTEx ENSG00000188937 GTEx
HGNC ID HGNC:8082 ENTREZGENE
Human Proteome Map NYX Human Proteome Map
InterPro Cys-rich_flank_reg_C UniProtKB/Swiss-Prot
  Leu-rich_rpt UniProtKB/Swiss-Prot
  Leu-rich_rpt_typical-subtyp UniProtKB/Swiss-Prot
  LRR_dom_sf UniProtKB/Swiss-Prot
  LRRNT UniProtKB/Swiss-Prot
KEGG Report hsa:60506 UniProtKB/Swiss-Prot
NCBI Gene 60506 ENTREZGENE
OMIM 300278 OMIM
  310500 OMIM
Pfam LRR_8 UniProtKB/Swiss-Prot
  LRRNT UniProtKB/Swiss-Prot
PharmGKB PA31871 PharmGKB
SMART LRR_TYP UniProtKB/Swiss-Prot
  LRRCT UniProtKB/Swiss-Prot
UniProt NYX_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary D3DWC0 UniProtKB/Swiss-Prot
  Q2M1S4 UniProtKB/Swiss-Prot
  Q5H983 UniProtKB/Swiss-Prot
  Q9H4J0 UniProtKB/Swiss-Prot