LOC122152296 (OCT4-NANOG hESC enhancer GRCh37_chr1:216419825-216420431) - Rat Genome Database

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Gene: LOC122152296 (OCT4-NANOG hESC enhancer GRCh37_chr1:216419825-216420431) Homo sapiens
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Symbol: LOC122152296
Name: OCT4-NANOG hESC enhancer GRCh37_chr1:216419825-216420431
RGD ID: 149735940
Description: This genomic sequence was predicted to be a transcriptional regulatory region based on chromatin state analysis from the ENCODE (ENCyclopedia Of DNA Elements) project. It was validated as an active enhancer by the ChIP-STARR-seq massively parallel reporter assay in naive human embryonic stem cells, where it associates with the OCT4 and NANOG transcription factors. A subregion was also validated as a repressive element by Sharpr-MPRA (Systematic high-resolution activation and repression profiling with reporter tiling using massively parallel reporter assays) in K562 erythroleukemia cells (group: K562 Repressive non-DNase unmatched - State 24:Quies, heterochromatin/dead zone). [provided by RefSeq, Jan 2023]
Type: biological-region
RefSeq Status: REVIEWED
Previously known as: Sharpr-MPRA regulatory region 8762
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381216,246,483 - 216,247,089 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371216,420,069 - 216,420,363 (+)NCBIGRCh37GRCh37hg19GRCh37
Cytogenetic Map1qNCBI
T2T-CHM13v2.01215,486,832 - 215,487,438 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References
Additional References at PubMed
PMID:27701403   PMID:30033119  


Genomics

Variants

.
Variants in LOC122152296
141 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_206933.4(USH2A):c.2788A>T (p.Arg930Trp) single nucleotide variant Inborn genetic diseases [RCV003256102] Chr1:216246606 [GRCh38]
Chr1:216419948 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.2777G>A (p.Arg926His) single nucleotide variant Retinal dystrophy [RCV001074040]|Retinitis pigmentosa 39 [RCV003450833]|Usher syndrome type 2A [RCV000665768]|Usher syndrome type 2A [RCV003450832]|not provided [RCV001243252]|not specified [RCV000041817] Chr1:216246617 [GRCh38]
Chr1:216419959 [GRCh37]
Chr1:1q41
conflicting interpretations of pathogenicity|uncertain significance
NM_206933.4(USH2A):c.2729_2730del (p.Gly910fs) deletion Usher syndrome type 2A [RCV002310584] Chr1:216246664..216246665 [GRCh38]
Chr1:216420006..216420007 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.2683C>T (p.Gln895Ter) single nucleotide variant Usher syndrome type 2A [RCV002306607] Chr1:216246711 [GRCh38]
Chr1:216420053 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.2682del (p.Gln895fs) deletion not provided [RCV001947621] Chr1:216246712 [GRCh38]
Chr1:216420054 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.2779C>T (p.Gln927Ter) single nucleotide variant Retinitis pigmentosa 39 [RCV003451986]|Usher syndrome type 2 [RCV002307769]|Usher syndrome type 2A [RCV003451985]|not provided [RCV002040066] Chr1:216246615 [GRCh38]
Chr1:216419957 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.2632C>T (p.Arg878Cys) single nucleotide variant not provided [RCV003104785] Chr1:216246762 [GRCh38]
Chr1:216420104 [GRCh37]
Chr1:1q41
uncertain significance
GRCh38/hg38 1q41(chr1:215206760-222004068)x1 copy number loss See cases [RCV000050298] Chr1:215206760..222004068 [GRCh38]
Chr1:215380103..222177410 [GRCh37]
Chr1:213446726..220244033 [NCBI36]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.2642A>C (p.Gln881Pro) single nucleotide variant Retinitis pigmentosa 39 [RCV001579270]|Usher syndrome type 2A [RCV001579269] Chr1:216246752 [GRCh38]
Chr1:216420094 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.2653C>T (p.His885Tyr) single nucleotide variant Retinal dystrophy [RCV001075434]|Retinitis pigmentosa 39 [RCV001376385]|Retinitis pigmentosa [RCV000778220]|Usher syndrome type 2A [RCV001098933]|not provided [RCV001244238]|not specified [RCV001731856] Chr1:216246741 [GRCh38]
Chr1:216420083 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic|uncertain significance
NM_206933.4(USH2A):c.2409C>T (p.Leu803=) single nucleotide variant not provided [RCV001496521] Chr1:216246985 [GRCh38]
Chr1:216420327 [GRCh37]
Chr1:1q41
likely benign
GRCh38/hg38 1q32.3-41(chr1:214023812-216598173)x3 copy number gain See cases [RCV000136585] Chr1:214023812..216598173 [GRCh38]
Chr1:214197155..216771515 [GRCh37]
Chr1:212263778..214838138 [NCBI36]
Chr1:1q32.3-41
uncertain significance
GRCh38/hg38 1q32.2-44(chr1:209646207-248931113)x3 copy number gain See cases [RCV000051861] Chr1:209646207..248931113 [GRCh38]
Chr1:209819552..249225312 [GRCh37]
Chr1:207886175..247191935 [NCBI36]
Chr1:1q32.2-44
pathogenic
NM_206933.4(USH2A):c.2454G>A (p.Lys818=) single nucleotide variant not provided [RCV001457114] Chr1:216246940 [GRCh38]
Chr1:216420282 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.2431_2432del (p.Lys811fs) deletion Retinitis pigmentosa 39 [RCV003451822]|Usher syndrome type 2A [RCV001591883]|Usher syndrome type 2A [RCV002495940] Chr1:216246962..216246963 [GRCh38]
Chr1:216420304..216420305 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.2410C>T (p.Pro804Ser) single nucleotide variant Retinitis pigmentosa 39 [RCV001330637] Chr1:216246984 [GRCh38]
Chr1:216420326 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.2459A>G (p.Asn820Ser) single nucleotide variant Retinitis pigmentosa [RCV000339482]|Usher syndrome type 2A [RCV000405347]|not provided [RCV000371237] Chr1:216246935 [GRCh38]
Chr1:216420277 [GRCh37]
Chr1:1q41
conflicting interpretations of pathogenicity|uncertain significance
NM_206933.4(USH2A):c.2444G>C (p.Cys815Ser) single nucleotide variant Retinitis pigmentosa [RCV001199792]|not provided [RCV000761705] Chr1:216246950 [GRCh38]
Chr1:216420292 [GRCh37]
Chr1:1q41
pathogenic|uncertain significance
NM_206933.4(USH2A):c.2633G>A (p.Arg878His) single nucleotide variant Retinitis pigmentosa 39 [RCV003453140]|Retinitis pigmentosa [RCV001098934]|Usher syndrome type 2A [RCV000986543]|not provided [RCV000909410]|not specified [RCV000152629] Chr1:216246761 [GRCh38]
Chr1:216420103 [GRCh37]
Chr1:1q41
benign|likely benign
GRCh38/hg38 1q31.1-42.11(chr1:187143981-224299417)x3 copy number gain See cases [RCV000051857] Chr1:187143981..224299417 [GRCh38]
Chr1:187113113..224487119 [GRCh37]
Chr1:185379736..222553742 [NCBI36]
Chr1:1q31.1-42.11
pathogenic
GRCh38/hg38 1q41(chr1:215447347-221971832)x3 copy number gain See cases [RCV000051874] Chr1:215447347..221971832 [GRCh38]
Chr1:215620690..222145174 [GRCh37]
Chr1:213687313..220211797 [NCBI36]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.2649dup (p.Pro884fs) duplication Retinal dystrophy [RCV001074614]|Retinitis pigmentosa 39 [RCV003455369]|not provided [RCV001268584] Chr1:216246744..216246745 [GRCh38]
Chr1:216420086..216420087 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.2478C>A (p.Cys826Ter) single nucleotide variant not provided [RCV001390514] Chr1:216246916 [GRCh38]
Chr1:216420258 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.2661C>G (p.Tyr887Ter) single nucleotide variant Retinal dystrophy [RCV000225384] Chr1:216246733 [GRCh38]
Chr1:216420075 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.2391_2392del (p.Cys797_Asp798delinsTer) microsatellite Retinitis pigmentosa 39 [RCV003473776]|Usher syndrome type 2A [RCV003449696]|not provided [RCV001221114] Chr1:216247002..216247003 [GRCh38]
Chr1:216420344..216420345 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.2561C>A (p.Thr854Lys) single nucleotide variant not provided [RCV001239486] Chr1:216246833 [GRCh38]
Chr1:216420175 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.2409C>G (p.Leu803=) single nucleotide variant not provided [RCV000976135] Chr1:216246985 [GRCh38]
Chr1:216420327 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.2599C>T (p.Gln867Ter) single nucleotide variant not provided [RCV001054604] Chr1:216246795 [GRCh38]
Chr1:216420137 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.2514A>G (p.Gln838=) single nucleotide variant Usher syndrome type 2A [RCV001835209]|not provided [RCV001244554] Chr1:216246880 [GRCh38]
Chr1:216420222 [GRCh37]
Chr1:1q41
likely benign|uncertain significance
NM_206933.4(USH2A):c.2457C>A (p.Pro819=) single nucleotide variant not provided [RCV001499372] Chr1:216246937 [GRCh38]
Chr1:216420279 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.2546G>A (p.Cys849Tyr) single nucleotide variant Retinitis pigmentosa [RCV001098935]|Usher syndrome type 2A [RCV000986544]|not provided [RCV000946559]|not specified [RCV000041814] Chr1:216246848 [GRCh38]
Chr1:216420190 [GRCh37]
Chr1:1q41
benign|likely benign|uncertain significance
NM_206933.4(USH2A):c.2460T>C (p.Asn820=) single nucleotide variant Usher syndrome type 2A [RCV001275021]|not provided [RCV000981296] Chr1:216246934 [GRCh38]
Chr1:216420276 [GRCh37]
Chr1:1q41
benign|likely benign
NM_206933.4(USH2A):c.2436A>G (p.Thr812=) single nucleotide variant not provided [RCV001449446] Chr1:216246958 [GRCh38]
Chr1:216420300 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.2548G>C (p.Asp850His) single nucleotide variant not provided [RCV001241356] Chr1:216246846 [GRCh38]
Chr1:216420188 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.2610C>A (p.Cys870Ter) single nucleotide variant Retinal dystrophy [RCV001075425]|Retinitis pigmentosa 39 [RCV003453362]|Usher syndrome [RCV000826153]|Usher syndrome type 2A [RCV000673272]|Usher syndrome type 2A [RCV001271234]|not provided [RCV001384598] Chr1:216246784 [GRCh38]
Chr1:216420126 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.2393A>T (p.Asp798Val) single nucleotide variant not provided [RCV001422982] Chr1:216247001 [GRCh38]
Chr1:216420343 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.2658G>A (p.Arg886=) single nucleotide variant not provided [RCV001458956] Chr1:216246736 [GRCh38]
Chr1:216420078 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.2649G>A (p.Glu883=) single nucleotide variant not provided [RCV001496094] Chr1:216246745 [GRCh38]
Chr1:216420087 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.2398G>A (p.Ala800Thr) single nucleotide variant Usher syndrome type 2A [RCV001834000]|not provided [RCV001231005] Chr1:216246996 [GRCh38]
Chr1:216420338 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.2479A>C (p.Asn827His) single nucleotide variant Retinitis pigmentosa 39 [RCV003454605]|Usher syndrome type 2A [RCV000674556]|Usher syndrome type 2A [RCV001835733]|not provided [RCV002518227]|not specified [RCV000215197] Chr1:216246915 [GRCh38]
Chr1:216420257 [GRCh37]
Chr1:1q41
uncertain significance
GRCh38/hg38 1q41(chr1:215206760-222004068)x1 copy number loss See cases [RCV000148255] Chr1:215206760..222004068 [GRCh38]
Chr1:215380103..222177410 [GRCh37]
Chr1:213446726..220244033 [NCBI36]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.2439G>C (p.Gly813=) single nucleotide variant not provided [RCV001498713] Chr1:216246955 [GRCh38]
Chr1:216420297 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.2621T>A (p.Val874Glu) single nucleotide variant Usher syndrome type 2A [RCV001827407]|not provided [RCV001063535] Chr1:216246773 [GRCh38]
Chr1:216420115 [GRCh37]
Chr1:1q41
uncertain significance
GRCh38/hg38 1q32.3-44(chr1:214023812-248918469)x3 copy number gain See cases [RCV000050981] Chr1:214023812..248918469 [GRCh38]
Chr1:214197155..249212668 [GRCh37]
Chr1:212263778..247179291 [NCBI36]
Chr1:1q32.3-44
pathogenic
NM_206933.4(USH2A):c.2415G>C (p.Gly805=) single nucleotide variant not provided [RCV000931190] Chr1:216246979 [GRCh38]
Chr1:216420321 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.2522C>A (p.Ser841Tyr) single nucleotide variant Hearing impairment [RCV000754555]|Progressive cone dystrophy (without rod involvement) [RCV000787896]|Retinitis pigmentosa [RCV000504801]|Usher syndrome [RCV001775076]|Usher syndrome type 2A [RCV001100748]|not provided [RCV000488324]|not specified [RCV000041813] Chr1:216246872 [GRCh38]
Chr1:216420214 [GRCh37]
Chr1:1q41
likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh38/hg38 1q32.2-44(chr1:209963625-248918469)x3 copy number gain See cases [RCV000134979] Chr1:209963625..248918469 [GRCh38]
Chr1:210136970..249212668 [GRCh37]
Chr1:208203593..247179291 [NCBI36]
Chr1:1q32.2-44
pathogenic
NM_206933.4(USH2A):c.2384G>A (p.Cys795Tyr) single nucleotide variant not provided [RCV000482550] Chr1:216247010 [GRCh38]
Chr1:216420352 [GRCh37]
Chr1:1q41
likely pathogenic|uncertain significance
NM_206933.4(USH2A):c.2585A>G (p.Asn862Ser) single nucleotide variant not provided [RCV003104740] Chr1:216246809 [GRCh38]
Chr1:216420151 [GRCh37]
Chr1:1q41
uncertain significance
GRCh38/hg38 1q32.1-42.12(chr1:204764914-225408698)x3 copy number gain See cases [RCV000142054] Chr1:204764914..225408698 [GRCh38]
Chr1:204734042..225596400 [GRCh37]
Chr1:203000665..223663023 [NCBI36]
Chr1:1q32.1-42.12
pathogenic
GRCh38/hg38 1q32.3-41(chr1:214028574-217327791)x3 copy number gain See cases [RCV000142206] Chr1:214028574..217327791 [GRCh38]
Chr1:214201917..217501133 [GRCh37]
Chr1:212268540..215567756 [NCBI36]
Chr1:1q32.3-41
uncertain significance
NM_206933.4(USH2A):c.2416A>G (p.Thr806Ala) single nucleotide variant not provided [RCV000415731] Chr1:216246978 [GRCh38]
Chr1:216420320 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.2414G>C (p.Gly805Ala) single nucleotide variant Leber congenital amaurosis [RCV000144475]|Retinitis pigmentosa 39 [RCV003453102]|Retinitis pigmentosa [RCV001101006]|Usher syndrome type 2A [RCV000665419]|Usher syndrome type 2A [RCV001100751]|not provided [RCV002514776] Chr1:216246980 [GRCh38]
Chr1:216420322 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.2621T>C (p.Val874Ala) single nucleotide variant not provided [RCV001757243] Chr1:216246773 [GRCh38]
Chr1:216420115 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.2617G>A (p.Gly873Arg) single nucleotide variant Retinitis pigmentosa 39 [RCV003451626]|Usher syndrome type 2A [RCV000664639]|Usher syndrome type 2A [RCV003451625]|not provided [RCV001868195] Chr1:216246777 [GRCh38]
Chr1:216420119 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.2619G>A (p.Gly873=) single nucleotide variant not provided [RCV001506739] Chr1:216246775 [GRCh38]
Chr1:216420117 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.2510G>A (p.Arg837Gln) single nucleotide variant Retinitis pigmentosa [RCV001100750]|Usher syndrome type 2A [RCV001100749]|not provided [RCV000881023]|not specified [RCV000152631] Chr1:216246884 [GRCh38]
Chr1:216420226 [GRCh37]
Chr1:1q41
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh38/hg38 1q41(chr1:216244646-216387988)x3 copy number gain See cases [RCV000141885] Chr1:216244646..216387988 [GRCh38]
Chr1:216417988..216561330 [GRCh37]
Chr1:214484611..214627953 [NCBI36]
Chr1:1q41
uncertain significance
Single allele deletion Usher syndrome [RCV000505151] Chr1:216066818..222607612 [GRCh38]
Chr1:216240159..222780953 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.2541C>A (p.Cys847Ter) single nucleotide variant Rare genetic deafness [RCV000152630]|Retinitis pigmentosa 39 [RCV003474803]|Usher syndrome type 2A [RCV003453141]|not provided [RCV001857523] Chr1:216246853 [GRCh38]
Chr1:216420195 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.2628T>A (p.Gly876=) single nucleotide variant Retinitis pigmentosa 39 [RCV003451749]|Usher syndrome type 2A [RCV003451748]|not provided [RCV001486168] Chr1:216246766 [GRCh38]
Chr1:216420108 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.2643G>A (p.Gln881=) single nucleotide variant Retinitis pigmentosa 39 [RCV003453767]|Usher syndrome type 2A [RCV003453766]|not provided [RCV000840178] Chr1:216246751 [GRCh38]
Chr1:216420093 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.2390_2410dup (p.Leu803_Pro804insArgAspThrAlaGlySerLeu) duplication Usher syndrome type 2A [RCV000674534] Chr1:216246983..216246984 [GRCh38]
Chr1:216420325..216420326 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.2649del (p.Glu883fs) deletion Retinitis pigmentosa 39 [RCV003469689]|not provided [RCV001383094] Chr1:216246745 [GRCh38]
Chr1:216420087 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.2525dup (p.Leu843fs) duplication Retinitis pigmentosa 39 [RCV003462998]|not provided [RCV001384599] Chr1:216246868..216246869 [GRCh38]
Chr1:216420210..216420211 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.2(USH2A):c.(784+1_785-1)_(5572+1_5573-1)dup duplication Usher syndrome type 2A [RCV000678637] Chr1:216078088..216327655 [GRCh38]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.2534del (p.Leu845fs) deletion Usher syndrome type 2A [RCV000986545] Chr1:216246860 [GRCh38]
Chr1:216420202 [GRCh37]
Chr1:1q41
pathogenic
NC_000001.10:g.216144119_216591855del447737 deletion Usher syndrome type 2A [RCV000504108] Chr1:215970777..216418513 [GRCh38]
Chr1:216144119..216591855 [GRCh37]
Chr1:1q41
pathogenic
GRCh38/hg38 1q32.2-44(chr1:207346642-248930485)x3 copy number gain See cases [RCV000143727] Chr1:207346642..248930485 [GRCh38]
Chr1:207519987..249224684 [GRCh37]
Chr1:205586610..247191307 [NCBI36]
Chr1:1q32.2-44
pathogenic
NM_206933.4(USH2A):c.2616del (p.Gly873_Val874insTer) deletion Retinitis pigmentosa 39 [RCV003453375]|Usher syndrome type 2A [RCV000674037]|Usher syndrome type 2A [RCV003453374]|not provided [RCV001868275] Chr1:216246778 [GRCh38]
Chr1:216420120 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.2435_2446del (p.Thr812_Cys815del) deletion Usher syndrome type 2A [RCV000666472] Chr1:216246948..216246959 [GRCh38]
Chr1:216420290..216420301 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.2392G>A (p.Asp798Asn) single nucleotide variant not provided [RCV002041035] Chr1:216247002 [GRCh38]
Chr1:216420344 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.2509C>T (p.Arg837Trp) single nucleotide variant not provided [RCV002024374] Chr1:216246885 [GRCh38]
Chr1:216420227 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.2666T>A (p.Leu889Ter) single nucleotide variant not provided [RCV001911301] Chr1:216246728 [GRCh38]
Chr1:216420070 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.2531_2532del (p.Cys844fs) deletion not provided [RCV001951068] Chr1:216246862..216246863 [GRCh38]
Chr1:216420204..216420205 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.2375G>A (p.Cys792Tyr) single nucleotide variant not provided [RCV001917501] Chr1:216247019 [GRCh38]
Chr1:216420361 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.2531G>A (p.Cys844Tyr) single nucleotide variant not provided [RCV001917127] Chr1:216246863 [GRCh38]
Chr1:216420205 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.2393A>G (p.Asp798Gly) single nucleotide variant not provided [RCV002013737] Chr1:216247001 [GRCh38]
Chr1:216420343 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.2626G>C (p.Gly876Arg) single nucleotide variant not provided [RCV001901347] Chr1:216246768 [GRCh38]
Chr1:216420110 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.2613A>G (p.Lys871=) single nucleotide variant not provided [RCV002072482] Chr1:216246781 [GRCh38]
Chr1:216420123 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.2532T>C (p.Cys844=) single nucleotide variant not provided [RCV002124292] Chr1:216246862 [GRCh38]
Chr1:216420204 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.2535G>A (p.Leu845=) single nucleotide variant not provided [RCV002216373] Chr1:216246859 [GRCh38]
Chr1:216420201 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.2619G>T (p.Gly873=) single nucleotide variant not provided [RCV002091067] Chr1:216246775 [GRCh38]
Chr1:216420117 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.2665T>C (p.Leu889=) single nucleotide variant not provided [RCV002138126] Chr1:216246729 [GRCh38]
Chr1:216420071 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.2586C>T (p.Asn862=) single nucleotide variant not provided [RCV002163592] Chr1:216246808 [GRCh38]
Chr1:216420150 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.2640T>C (p.Asn880=) single nucleotide variant not provided [RCV002176059] Chr1:216246754 [GRCh38]
Chr1:216420096 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.2475G>A (p.Gln825=) single nucleotide variant not provided [RCV002162541] Chr1:216246919 [GRCh38]
Chr1:216420261 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.2631T>C (p.Leu877=) single nucleotide variant not provided [RCV002140659] Chr1:216246763 [GRCh38]
Chr1:216420105 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.2580G>A (p.Leu860=) single nucleotide variant not provided [RCV002181060] Chr1:216246814 [GRCh38]
Chr1:216420156 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.2317A>T (p.Lys773Ter) single nucleotide variant Usher syndrome type 2A [RCV002309244] Chr1:216247077 [GRCh38]
Chr1:216420419 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.2775T>C (p.Asn925=) single nucleotide variant Retinitis pigmentosa 39 [RCV003454584]|Usher syndrome type 2A [RCV000668845]|Usher syndrome type 2A [RCV003454583]|not provided [RCV001421319]|not specified [RCV000214660] Chr1:216246619 [GRCh38]
Chr1:216419961 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.2745A>C (p.Pro915=) single nucleotide variant not provided [RCV002096962] Chr1:216246649 [GRCh38]
Chr1:216419991 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.2726C>A (p.Pro909His) single nucleotide variant Inborn genetic diseases [RCV002537859]|Retinitis pigmentosa 39 [RCV003449830]|Usher syndrome type 2A [RCV001279669]|not provided [RCV002541716] Chr1:216246668 [GRCh38]
Chr1:216420010 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.2750G>A (p.Ser917Asn) single nucleotide variant Retinitis pigmentosa 39 [RCV003449633]|Usher syndrome type 2A [RCV001197526]|not provided [RCV002560235] Chr1:216246644 [GRCh38]
Chr1:216419986 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.2309A>G (p.Lys770Arg) single nucleotide variant not provided [RCV002255752] Chr1:216247085 [GRCh38]
Chr1:216420427 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.2730del (p.Thr911fs) deletion not provided [RCV001875595] Chr1:216246664 [GRCh38]
Chr1:216420006 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.2332G>T (p.Asp778Tyr) single nucleotide variant Retinal dystrophy [RCV001073261]|Usher syndrome [RCV001804867]|Usher syndrome type 2A [RCV001810429]|not provided [RCV001051381]|not specified [RCV000155332] Chr1:216247062 [GRCh38]
Chr1:216420404 [GRCh37]
Chr1:1q41
pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_206933.4(USH2A):c.2695A>T (p.Met899Leu) single nucleotide variant not provided [RCV001876647] Chr1:216246699 [GRCh38]
Chr1:216420041 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.2714del (p.Leu905fs) deletion not provided [RCV001877846] Chr1:216246680 [GRCh38]
Chr1:216420022 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.2720C>T (p.Thr907Ile) single nucleotide variant Usher syndrome type 2A [RCV001827277]|not provided [RCV001044868] Chr1:216246674 [GRCh38]
Chr1:216420016 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.2777G>T (p.Arg926Leu) single nucleotide variant not provided [RCV000761704] Chr1:216246617 [GRCh38]
Chr1:216419959 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.2349C>T (p.Asn783=) single nucleotide variant not provided [RCV002151843] Chr1:216247045 [GRCh38]
Chr1:216420387 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.2669C>T (p.Thr890Ile) single nucleotide variant not provided [RCV002672169] Chr1:216246725 [GRCh38]
Chr1:216420067 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.2738del (p.Cys913fs) deletion not provided [RCV002002550] Chr1:216246656 [GRCh38]
Chr1:216419998 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.2365G>A (p.Val789Ile) single nucleotide variant Usher syndrome type 2A [RCV001275022]|not provided [RCV000928928] Chr1:216247029 [GRCh38]
Chr1:216420371 [GRCh37]
Chr1:1q41
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_206933.4(USH2A):c.2320G>A (p.Gly774Arg) single nucleotide variant not provided [RCV001231985] Chr1:216247074 [GRCh38]
Chr1:216420416 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.2796T>C (p.Asn932=) single nucleotide variant not provided [RCV002219707] Chr1:216246598 [GRCh38]
Chr1:216419940 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.2776C>T (p.Arg926Cys) single nucleotide variant Retinitis pigmentosa 39 [RCV003451647]|Usher syndrome type 2A [RCV000666463]|Usher syndrome type 2A [RCV003451646]|not specified [RCV003330880] Chr1:216246618 [GRCh38]
Chr1:216419960 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.2746A>G (p.Ile916Val) single nucleotide variant not provided [RCV001902956] Chr1:216246648 [GRCh38]
Chr1:216419990 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.2310del (p.Glu771fs) deletion not provided [RCV002664215] Chr1:216247084 [GRCh38]
Chr1:216420426 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.2724A>G (p.Leu908=) single nucleotide variant not provided [RCV002124419] Chr1:216246670 [GRCh38]
Chr1:216420012 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.2753G>T (p.Gly918Val) single nucleotide variant not provided [RCV001752662] Chr1:216246641 [GRCh38]
Chr1:216419983 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.2797C>T (p.Gln933Ter) single nucleotide variant Retinitis pigmentosa 39 [RCV001727791]|Usher syndrome type 2A [RCV000669105]|Usher syndrome type 2A [RCV003453279]|not provided [RCV002531217] Chr1:216246597 [GRCh38]
Chr1:216419939 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.2330G>A (p.Cys777Tyr) single nucleotide variant Retinitis pigmentosa [RCV001249898]|Usher syndrome type 2A [RCV001836188]|not provided [RCV001232520] Chr1:216247064 [GRCh38]
Chr1:216420406 [GRCh37]
Chr1:1q41
likely pathogenic|uncertain significance
NM_206933.4(USH2A):c.2792G>A (p.Cys931Tyr) single nucleotide variant Retinitis pigmentosa 39 [RCV003451933]|Usher syndrome type 2A [RCV003451932]|not provided [RCV001786059] Chr1:216246602 [GRCh38]
Chr1:216419944 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.2680T>G (p.Phe894Val) single nucleotide variant not provided [RCV001052522] Chr1:216246714 [GRCh38]
Chr1:216420056 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.2710_2720dup (p.Leu908fs) duplication not provided [RCV001268688] Chr1:216246673..216246674 [GRCh38]
Chr1:216420015..216420016 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.2802T>G (p.Cys934Trp) single nucleotide variant Retinal dystrophy [RCV001074347]|Retinitis pigmentosa 39 [RCV000576637]|Retinitis pigmentosa [RCV000132710]|Usher syndrome [RCV002469023]|Usher syndrome type 2 [RCV001003277]|Usher syndrome type 2A [RCV000986542]|not provided [RCV000595137] Chr1:216246592 [GRCh38]
Chr1:216419934 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_206933.4(USH2A):c.2800T>C (p.Cys934Arg) single nucleotide variant Usher syndrome type 2A [RCV001832555]|not provided [RCV001062293] Chr1:216246594 [GRCh38]
Chr1:216419936 [GRCh37]
Chr1:1q41
likely pathogenic|uncertain significance
NM_206933.4(USH2A):c.2799G>A (p.Gln933=) single nucleotide variant not provided [RCV002163197] Chr1:216246595 [GRCh38]
Chr1:216419937 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.2809+12A>G single nucleotide variant not provided [RCV002149358] Chr1:216246573 [GRCh38]
Chr1:216419915 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.2809+1G>C single nucleotide variant Retinitis pigmentosa 39 [RCV003462953]|Usher syndrome type 2A [RCV001831348]|not provided [RCV001377902] Chr1:216246584 [GRCh38]
Chr1:216419926 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.2707G>T (p.Asp903Tyr) single nucleotide variant Usher syndrome type 2A [RCV001830306]|not provided [RCV001317678] Chr1:216246687 [GRCh38]
Chr1:216420029 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.2809+10A>C single nucleotide variant not provided [RCV002192793] Chr1:216246575 [GRCh38]
Chr1:216419917 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.2761C>A (p.Leu921Met) single nucleotide variant Retinitis pigmentosa 39 [RCV003455014]|Usher syndrome type 2A [RCV003455013]|not provided [RCV000993541] Chr1:216246633 [GRCh38]
Chr1:216419975 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.2809+1G>A single nucleotide variant Retinal dystrophy [RCV001075468]|Retinitis pigmentosa 39 [RCV003446564]|Usher syndrome [RCV003230611]|Usher syndrome type 2A [RCV000986541]|not provided [RCV001858646] Chr1:216246584 [GRCh38]
Chr1:216419926 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.2809+2T>A single nucleotide variant Rare genetic deafness [RCV000605844]|Usher syndrome type 2A [RCV003446171]|not provided [RCV000599015] Chr1:216246583 [GRCh38]
Chr1:216419925 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.2372A>G (p.Asn791Ser) single nucleotide variant not provided [RCV001035475] Chr1:216247022 [GRCh38]
Chr1:216420364 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.2588A>G (p.Lys863Arg) single nucleotide variant not provided [RCV002302968] Chr1:216246806 [GRCh38]
Chr1:216420148 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.2798A>G (p.Gln933Arg) single nucleotide variant not provided [RCV001898074] Chr1:216246596 [GRCh38]
Chr1:216419938 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.2411C>T (p.Pro804Leu) single nucleotide variant Inborn genetic diseases [RCV003287296] Chr1:216246983 [GRCh38]
Chr1:216420325 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.2732C>A (p.Thr911Asn) single nucleotide variant not specified [RCV000041816] Chr1:216246662 [GRCh38]
Chr1:216420004 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.2377A>T (p.Lys793Ter) single nucleotide variant Usher syndrome type 2A [RCV002309287] Chr1:216247017 [GRCh38]
Chr1:216420359 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.2416_2417insT (p.Thr806fs) insertion Usher syndrome type 2A [RCV002309887] Chr1:216246977..216246978 [GRCh38]
Chr1:216420319..216420320 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.2451C>A (p.Cys817Ter) single nucleotide variant Usher syndrome type 2A [RCV002308222] Chr1:216246943 [GRCh38]
Chr1:216420285 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.2512C>A (p.Gln838Lys) single nucleotide variant not provided [RCV002301452] Chr1:216246882 [GRCh38]
Chr1:216420224 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.2423_2425delinsCTTAT (p.Cys808fs) indel Usher syndrome type 2A [RCV002309357] Chr1:216246969..216246971 [GRCh38]
Chr1:216420311..216420313 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.2525del (p.Phe842fs) deletion Usher syndrome type 2A [RCV002310147] Chr1:216246869 [GRCh38]
Chr1:216420211 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.2468_2469insTATAA (p.Arg824fs) insertion Usher syndrome type 2A [RCV002306655] Chr1:216246925..216246926 [GRCh38]
Chr1:216420267..216420268 [GRCh37]
Chr1:1q41
likely pathogenic
GRCh38/hg38 1q32.2-42.13(chr1:228006998-228061271)x2 copy number loss Orofacial cleft 2 [RCV002481175] Chr1:228006998..228061271 [GRCh38]
Chr1:1q32.2-42.13
association
NM_206933.4(USH2A):c.2481T>C (p.Asn827=) single nucleotide variant not provided [RCV003034794] Chr1:216246913 [GRCh38]
Chr1:216420255 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.2493G>A (p.Glu831=) single nucleotide variant not provided [RCV002995496] Chr1:216246901 [GRCh38]
Chr1:216420243 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.2638A>T (p.Asn880Tyr) single nucleotide variant not provided [RCV003016505] Chr1:216246756 [GRCh38]
Chr1:216420098 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.2723T>C (p.Leu908Ser) single nucleotide variant not provided [RCV002760781] Chr1:216246671 [GRCh38]
Chr1:216420013 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.2381C>A (p.Ala794Asp) single nucleotide variant Inborn genetic diseases [RCV002950075] Chr1:216247013 [GRCh38]
Chr1:216420355 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.2583T>C (p.Cys861=) single nucleotide variant not provided [RCV002825165] Chr1:216246811 [GRCh38]
Chr1:216420153 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.2449T>C (p.Cys817Arg) single nucleotide variant not provided [RCV003053548] Chr1:216246945 [GRCh38]
Chr1:216420287 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.2462T>C (p.Val821Ala) single nucleotide variant not provided [RCV002785284] Chr1:216246932 [GRCh38]
Chr1:216420274 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.2499C>T (p.Asn833=) single nucleotide variant not provided [RCV002760599] Chr1:216246895 [GRCh38]
Chr1:216420237 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.2664T>C (p.Asn888=) single nucleotide variant not provided [RCV003054309] Chr1:216246730 [GRCh38]
Chr1:216420072 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.2451C>T (p.Cys817=) single nucleotide variant not provided [RCV003040680] Chr1:216246943 [GRCh38]
Chr1:216420285 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.2589A>G (p.Lys863=) single nucleotide variant not provided [RCV002710565] Chr1:216246805 [GRCh38]
Chr1:216420147 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.2637T>C (p.Cys879=) single nucleotide variant not provided [RCV002894852] Chr1:216246757 [GRCh38]
Chr1:216420099 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.2418T>C (p.Thr806=) single nucleotide variant not provided [RCV003057974] Chr1:216246976 [GRCh38]
Chr1:216420318 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.2508A>G (p.Leu836=) single nucleotide variant not provided [RCV002834295] Chr1:216246886 [GRCh38]
Chr1:216420228 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.2463T>C (p.Val821=) single nucleotide variant not provided [RCV002634809] Chr1:216246931 [GRCh38]
Chr1:216420273 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.2537C>T (p.Pro846Leu) single nucleotide variant not provided [RCV002611091] Chr1:216246857 [GRCh38]
Chr1:216420199 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.2584A>T (p.Asn862Tyr) single nucleotide variant not provided [RCV003093350] Chr1:216246810 [GRCh38]
Chr1:216420152 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.2305A>G (p.Lys769Glu) single nucleotide variant not provided [RCV001358965] Chr1:216247089 [GRCh38]
Chr1:216420431 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.2766T>A (p.Cys922Ter) single nucleotide variant not provided [RCV002834778] Chr1:216246628 [GRCh38]
Chr1:216419970 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.2802T>A (p.Cys934Ter) single nucleotide variant not provided [RCV001383453] Chr1:216246592 [GRCh38]
Chr1:216419934 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.2670del (p.Ile891fs) deletion not provided [RCV002894368] Chr1:216246724 [GRCh38]
Chr1:216420066 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.2761C>T (p.Leu921=) single nucleotide variant not provided [RCV001475659] Chr1:216246633 [GRCh38]
Chr1:216419975 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.2692C>T (p.Gln898Ter) single nucleotide variant Retinitis pigmentosa 39 [RCV003465899]|not provided [RCV003029090] Chr1:216246702 [GRCh38]
Chr1:216420044 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.2760C>T (p.Cys920=) single nucleotide variant not provided [RCV001482090] Chr1:216246634 [GRCh38]
Chr1:216419976 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.2733C>T (p.Thr911=) single nucleotide variant not provided [RCV001398476] Chr1:216246661 [GRCh38]
Chr1:216420003 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.2672T>C (p.Ile891Thr) single nucleotide variant not provided [RCV003069828] Chr1:216246722 [GRCh38]
Chr1:216420064 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.2757G>A (p.Gln919=) single nucleotide variant not provided [RCV002953703] Chr1:216246637 [GRCh38]
Chr1:216419979 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.2309AAG[1] (p.Glu771del) microsatellite Retinal dystrophy [RCV001075401]|Retinitis pigmentosa 39 [RCV003453371]|Usher syndrome type 2A [RCV000673940]|Usher syndrome type 2A [RCV003453370] Chr1:216247080..216247082 [GRCh38]
Chr1:216420422..216420424 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.2334C>T (p.Asp778=) single nucleotide variant not provided [RCV002993618] Chr1:216247060 [GRCh38]
Chr1:216420402 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.2691C>A (p.Cys897Ter) single nucleotide variant Retinitis pigmentosa 39 [RCV003464636]|not provided [RCV002908609] Chr1:216246703 [GRCh38]
Chr1:216420045 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.2358G>A (p.Gly786=) single nucleotide variant not provided [RCV001434219] Chr1:216247036 [GRCh38]
Chr1:216420378 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.2761del (p.Leu921fs) deletion Retinal dystrophy [RCV001075313] Chr1:216246633 [GRCh38]
Chr1:216419975 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.2713T>C (p.Leu905=) single nucleotide variant not provided [RCV001454391] Chr1:216246681 [GRCh38]
Chr1:216420023 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.2769G>A (p.Val923=) single nucleotide variant not provided [RCV001471664] Chr1:216246625 [GRCh38]
Chr1:216419967 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.2356_2357delinsAT (p.Gly786Met) indel not provided [RCV002904521] Chr1:216247037..216247038 [GRCh38]
Chr1:216420379..216420380 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.2705G>A (p.Cys902Tyr) single nucleotide variant Retinal dystrophy [RCV000505028] Chr1:216246689 [GRCh38]
Chr1:216420031 [GRCh37]
Chr1:1q41
likely pathogenic|uncertain significance
NM_206933.4(USH2A):c.2718G>A (p.Gly906=) single nucleotide variant not provided [RCV001456264] Chr1:216246676 [GRCh38]
Chr1:216420018 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.2367C>T (p.Val789=) single nucleotide variant not provided [RCV001476547] Chr1:216247027 [GRCh38]
Chr1:216420369 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.2322A>G (p.Gly774=) single nucleotide variant not provided [RCV003033595] Chr1:216247072 [GRCh38]
Chr1:216420414 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.2336C>A (p.Thr779Asn) single nucleotide variant Inborn genetic diseases [RCV003206509] Chr1:216247058 [GRCh38]
Chr1:216420400 [GRCh37]
Chr1:1q41
uncertain significance
GRCh38/hg38 1q41(chr1:216190126-216251196)x1 copy number loss Usher syndrome type 2A [RCV003327669] Chr1:216190126..216251196 [GRCh38]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.2310dup (p.Glu771fs) duplication Retinitis pigmentosa 39 [RCV003464793] Chr1:216247083..216247084 [GRCh38]
Chr1:216420425..216420426 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.2440C>T (p.Gln814Ter) single nucleotide variant Retinitis pigmentosa 39 [RCV003464805] Chr1:216246954 [GRCh38]
Chr1:216420296 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.2647G>T (p.Glu883Ter) single nucleotide variant Retinitis pigmentosa 39 [RCV003474208] Chr1:216246747 [GRCh38]
Chr1:216420089 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.2411del (p.Pro804fs) deletion Retinitis pigmentosa 39 [RCV003464795] Chr1:216246983 [GRCh38]
Chr1:216420325 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.2601A>G (p.Gln867=) single nucleotide variant not provided [RCV003714398] Chr1:216246793 [GRCh38]
Chr1:216420135 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.2506C>T (p.Leu836=) single nucleotide variant not provided [RCV003544258] Chr1:216246888 [GRCh38]
Chr1:216420230 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.2809+10A>G single nucleotide variant not provided [RCV003879281] Chr1:216246575 [GRCh38]
Chr1:216419917 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.2491G>T (p.Glu831Ter) single nucleotide variant not provided [RCV003690189] Chr1:216246903 [GRCh38]
Chr1:216420245 [GRCh37]
Chr1:1q41
pathogenic

Expression


Sequence



Additional Information

Database Acc Id Source(s)
COSMIC LOC122152296 COSMIC
GTEx LOC122152296 GTEx
Human Proteome Map LOC122152296 Human Proteome Map
NCBI Gene LOC122152296 ENTREZGENE


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2023-01-24 LOC122152296  OCT4-NANOG hESC enhancer GRCh37_chr1:216419825-216420431  LOC122152296  Sharpr-MPRA regulatory region 8762  Symbol and/or name change 5135510 APPROVED