C10orf105 (chromosome 10 open reading frame 105) - Rat Genome Database

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Gene: C10orf105 (chromosome 10 open reading frame 105) Homo sapiens
Analyze
Symbol: C10orf105
Name: chromosome 10 open reading frame 105
RGD ID: 1346064
HGNC Page HGNC:20304
Description: Predicted to be located in membrane.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: FLJ00245; hypothetical protein LOC414152; uncharacterized protein C10orf105
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
GRCh381071,711,701 - 71,737,850 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1071,711,701 - 71,737,824 (-)EnsemblGRCh38hg38GRCh38
GRCh371073,471,458 - 73,497,607 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361073,141,464 - 73,169,435 (-)NCBINCBI36Build 36hg18NCBI36
Build 341073,141,472 - 73,167,587NCBI
Celera1066,753,897 - 66,780,020 (-)NCBICelera
Cytogenetic Map10q22.1NCBI
HuRef1067,465,288 - 67,491,413 (-)NCBIHuRef
CHM1_11073,753,589 - 73,779,713 (-)NCBICHM1_1
T2T-CHM13v2.01072,582,515 - 72,608,664 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


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

Cellular Component
membrane  (IEA)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
Additional References at PubMed
PMID:12477932   PMID:35559673  


Genomics

Comparative Map Data
C10orf105
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381071,711,701 - 71,737,850 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1071,711,701 - 71,737,824 (-)EnsemblGRCh38hg38GRCh38
GRCh371073,471,458 - 73,497,607 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361073,141,464 - 73,169,435 (-)NCBINCBI36Build 36hg18NCBI36
Build 341073,141,472 - 73,167,587NCBI
Celera1066,753,897 - 66,780,020 (-)NCBICelera
Cytogenetic Map10q22.1NCBI
HuRef1067,465,288 - 67,491,413 (-)NCBIHuRef
CHM1_11073,753,589 - 73,779,713 (-)NCBICHM1_1
T2T-CHM13v2.01072,582,515 - 72,608,664 (-)NCBIT2T-CHM13v2.0
Gm17455
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391060,235,643 - 60,239,338 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1060,235,505 - 60,239,338 (+)EnsemblGRCm39 Ensembl
GRCm381060,399,493 - 60,403,559 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1060,399,726 - 60,403,559 (+)EnsemblGRCm38mm10GRCm38
MGSCv371059,862,474 - 59,866,307 (+)NCBIGRCm37MGSCv37mm9NCBIm37
Celera1061,497,330 - 61,501,162 (+)NCBICelera
Cytogenetic Map10B4NCBI
cM Map1030.45NCBI
C20h10orf105
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr82028,876,519 - 28,880,120 (+)NCBIGRCr8
mRatBN7.22028,333,094 - 28,339,341 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl2028,336,101 - 28,336,487 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx2029,348,378 - 29,351,965 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.02028,734,686 - 28,738,273 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.02029,477,150 - 29,480,737 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.02029,947,427 - 29,954,869 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl2029,951,637 - 29,952,023 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.02031,751,045 - 31,764,285 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.42027,716,831 - 27,717,217 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera2029,770,042 - 29,777,365 (+)NCBICelera
Cytogenetic Map20q11NCBI
CUNH10orf105
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495543719,767,395 - 19,772,447 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495543719,767,395 - 19,772,447 (+)NCBIChiLan1.0ChiLan1.0
C8H10orf105
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2883,862,705 - 83,870,991 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11083,868,026 - 83,876,309 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01068,182,453 - 68,190,718 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11070,706,290 - 70,714,399 (-)NCBIpanpan1.1PanPan1.1panPan2
C4H10orf105
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1422,472,365 - 22,478,931 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha422,608,880 - 22,616,640 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0422,747,503 - 22,755,251 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl422,751,681 - 22,752,052 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1422,647,742 - 22,655,499 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0422,852,432 - 22,860,187 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0423,206,910 - 23,214,670 (-)NCBIUU_Cfam_GSD_1.0
CUNH10orf105
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440721358,599,196 - 58,606,641 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365217,095,068 - 7,095,469 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365217,095,044 - 7,095,497 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
C14H10orf105
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1474,629,796 - 74,638,022 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11474,630,827 - 74,639,180 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21480,523,833 - 80,527,304 (-)NCBISscrofa10.2Sscrofa10.2susScr3
CUNH10orf105
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1959,550,997 - 59,574,975 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl959,572,662 - 59,573,063 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604820,214,216 - 20,220,808 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
CUNH10orf105
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247545,630,673 - 5,635,688 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247545,630,802 - 5,635,649 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in C10orf105
392 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_022124.6(CDH23):c.3717G>A (p.Gly1239=) single nucleotide variant not provided [RCV001412312] Chr10:71731988 [GRCh38]
Chr10:73491745 [GRCh37]
Chr10:10q22.1
likely benign
GRCh38/hg38 10q21.2-22.2(chr10:62229688-74468143)x1 copy number loss See cases [RCV000052530] Chr10:62229688..74468143 [GRCh38]
Chr10:63989447..76227901 [GRCh37]
Chr10:63659453..75897907 [NCBI36]
Chr10:10q21.2-22.2
pathogenic
GRCh38/hg38 10q21.1-22.2(chr10:58436466-74415216)x1 copy number loss See cases [RCV000052511] Chr10:58436466..74415216 [GRCh38]
Chr10:60196226..76174974 [GRCh37]
Chr10:59866232..75844980 [NCBI36]
Chr10:10q21.1-22.2
pathogenic
NM_022124.6(CDH23):c.3262G>A (p.Val1088Met) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 12 [RCV000376393]|Autosomal recessive nonsyndromic hearing loss 12 [RCV000764914]|CDH23-Related Disorders [RCV000285498]|Usher syndrome type 1 [RCV001271862]|Usher syndrome type 1D [RCV000324074]|not provided [RCV001041387]|not specified [RCV000039145] Chr10:71712706 [GRCh38]
Chr10:73472463 [GRCh37]
Chr10:10q22.1
conflicting interpretations of pathogenicity|uncertain significance
NM_022124.6(CDH23):c.3331G>A (p.Val1111Ile) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 12 [RCV000406184]|CDH23-Related Disorders [RCV000351171]|Inborn genetic diseases [RCV003242971]|Usher syndrome type 1D [RCV000280070]|not provided [RCV000487639]|not specified [RCV000039147] Chr10:71712775 [GRCh38]
Chr10:73472532 [GRCh37]
Chr10:10q22.1
likely benign|uncertain significance
NM_022124.6(CDH23):c.3337G>C (p.Glu1113Gln) single nucleotide variant Usher syndrome type 1 [RCV001271863]|not specified [RCV000039148] Chr10:71712781 [GRCh38]
Chr10:73472538 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_022124.6(CDH23):c.3361A>T (p.Ile1121Phe) single nucleotide variant Retinal dystrophy [RCV001075026]|Usher syndrome type 1 [RCV001272560]|not provided [RCV000724083]|not specified [RCV000039149] Chr10:71712805 [GRCh38]
Chr10:73472562 [GRCh37]
Chr10:10q22.1
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_022124.6(CDH23):c.3397G>A (p.Glu1133Lys) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 12 [RCV002483003]|Pituitary adenoma 5, multiple types [RCV003473275]|Usher syndrome type 1 [RCV001272885]|not provided [RCV001056228]|not specified [RCV000039151] Chr10:71724072 [GRCh38]
Chr10:73483829 [GRCh37]
Chr10:10q22.1
likely benign|uncertain significance
NM_022124.6(CDH23):c.3481C>T (p.Arg1161Ter) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 12 [RCV002283447]|Hearing loss, autosomal recessive [RCV001291210]|Rare genetic deafness [RCV000039153]|not provided [RCV001852820] Chr10:71725422 [GRCh38]
Chr10:73485179 [GRCh37]
Chr10:10q22.1
pathogenic|likely pathogenic
NM_022124.6(CDH23):c.3486G>T (p.Gly1162=) single nucleotide variant not provided [RCV000976488]|not specified [RCV000039154] Chr10:71725427 [GRCh38]
Chr10:73485184 [GRCh37]
Chr10:10q22.1
likely benign
NM_022124.6(CDH23):c.3550G>A (p.Asp1184Asn) single nucleotide variant Usher syndrome type 1 [RCV001831661]|not provided [RCV001852821]|not specified [RCV000039155] Chr10:71725491 [GRCh38]
Chr10:73485248 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_022124.6(CDH23):c.3628C>T (p.Gln1210Ter) single nucleotide variant Rare genetic deafness [RCV000039160] Chr10:71730517 [GRCh38]
Chr10:73490274 [GRCh37]
Chr10:10q22.1
pathogenic
NM_022124.6(CDH23):c.3706C>T (p.Arg1236Ter) single nucleotide variant Pituitary adenoma 5, multiple types [RCV003473276]|Rare genetic deafness [RCV000039163]|not provided [RCV000482326] Chr10:71730595 [GRCh38]
Chr10:73490352 [GRCh37]
Chr10:10q22.1
pathogenic
NM_022124.6(CDH23):c.3895G>A (p.Val1299Ile) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 12 [RCV001105663]|Usher syndrome type 1D [RCV001105662]|not provided [RCV001044674]|not specified [RCV000039166] Chr10:71732166 [GRCh38]
Chr10:73491923 [GRCh37]
Chr10:10q22.1
likely benign|uncertain significance
NM_022124.6(CDH23):c.3925G>A (p.Glu1309Lys) single nucleotide variant Usher syndrome type 1 [RCV001831662]|not provided [RCV002513526]|not specified [RCV000039167] Chr10:71732196 [GRCh38]
Chr10:73491953 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_022124.5(CDH23):c.3431-116G>A single nucleotide variant Lung cancer [RCV000109329] Chr10:71725256 [GRCh38]
Chr10:73485013 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_022124.6(CDH23):c.3880C>T (p.Gln1294Ter) single nucleotide variant Hearing loss, autosomal recessive [RCV001291211]|Usher syndrome type 1D [RCV000005203]|not provided [RCV001386699] Chr10:71732151 [GRCh38]
Chr10:73491908 [GRCh37]
Chr10:10q22.1
pathogenic|likely pathogenic
NM_022124.6(CDH23):c.4021G>A (p.Asp1341Asn) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 12 [RCV000005205]|Pituitary adenoma 5, multiple types [RCV003472977]|Usher syndrome type 1 [RCV001272891]|not provided [RCV000436619] Chr10:71732292 [GRCh38]
Chr10:73492049 [GRCh37]
Chr10:10q22.1
pathogenic|likely pathogenic
NM_022124.6(CDH23):c.3625A>G (p.Thr1209Ala) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 12 [RCV000263856]|Autosomal recessive nonsyndromic hearing loss 12 [RCV002490319]|Usher syndrome [RCV000787989]|Usher syndrome type 1 [RCV000217147]|Usher syndrome type 1D [RCV000005210]|not provided [RCV000086973]|not specified [RCV000039159] Chr10:71730514 [GRCh38]
Chr10:73490271 [GRCh37]
Chr10:10q22.1
pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_022124.6(CDH23):c.3249G>A (p.Thr1083=) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 12 [RCV000382245]|Usher syndrome type 1 [RCV001826569]|Usher syndrome type 1D [RCV000325350]|not provided [RCV000967170]|not specified [RCV000039144] Chr10:71712693 [GRCh38]
Chr10:73472450 [GRCh37]
Chr10:10q22.1
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_022124.6(CDH23):c.3293A>G (p.Asn1098Ser) single nucleotide variant Retinitis pigmentosa-deafness syndrome [RCV000988380]|Usher syndrome type 1 [RCV001272558]|not provided [RCV000755903]|not specified [RCV000039146] Chr10:71712737 [GRCh38]
Chr10:73472494 [GRCh37]
Chr10:10q22.1
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_022124.6(CDH23):c.3364T>G (p.Leu1122Val) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 12 [RCV001103614]|Usher syndrome type 1 [RCV001831660]|Usher syndrome type 1D [RCV001103613]|not provided [RCV000965142]|not specified [RCV000039150] Chr10:71712808 [GRCh38]
Chr10:73472565 [GRCh37]
Chr10:10q22.1
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_022124.6(CDH23):c.3480G>T (p.Met1160Ile) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 12 [RCV001105554]|Usher syndrome type 1D [RCV001105553]|not provided [RCV000891539]|not specified [RCV000039152] Chr10:71725421 [GRCh38]
Chr10:73485178 [GRCh37]
Chr10:10q22.1
benign|likely benign|uncertain significance
NM_022124.6(CDH23):c.3574G>A (p.Val1192Ile) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 12 [RCV001105557]|Usher syndrome type 1 [RCV001826570]|Usher syndrome type 1D [RCV001106699]|not provided [RCV000886092]|not specified [RCV000039156] Chr10:71725515 [GRCh38]
Chr10:73485272 [GRCh37]
Chr10:10q22.1
benign|likely benign|uncertain significance
NM_022124.6(CDH23):c.3580-12C>T single nucleotide variant Autosomal recessive nonsyndromic hearing loss 12 [RCV000310732]|Usher syndrome type 1D [RCV000362989]|not provided [RCV001513134]|not specified [RCV000039157] Chr10:71730457 [GRCh38]
Chr10:73490214 [GRCh37]
Chr10:10q22.1
benign|likely benign
NM_022124.6(CDH23):c.3619G>A (p.Val1207Met) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 12 [RCV001108865]|Usher syndrome type 1 [RCV001272887]|Usher syndrome type 1D [RCV001108864]|not provided [RCV000968181]|not specified [RCV000039158] Chr10:71730508 [GRCh38]
Chr10:73490265 [GRCh37]
Chr10:10q22.1
benign|uncertain significance
NM_022124.6(CDH23):c.3664G>A (p.Ala1222Thr) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 12 [RCV001108867]|Usher syndrome type 1 [RCV001272888]|Usher syndrome type 1D [RCV001108866]|not provided [RCV000991775]|not specified [RCV000039161] Chr10:71730553 [GRCh38]
Chr10:73490310 [GRCh37]
Chr10:10q22.1
benign|likely benign
NM_022124.6(CDH23):c.3801C>T (p.Thr1267=) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 12 [RCV001103709]|Usher syndrome type 1 [RCV001272566]|Usher syndrome type 1D [RCV001103710]|not provided [RCV000723699]|not specified [RCV000039164] Chr10:71732072 [GRCh38]
Chr10:73491829 [GRCh37]
Chr10:10q22.1
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters
NM_022124.6(CDH23):c.3845A>G (p.Asn1282Ser) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 12 [RCV001103711]|Meniere disease [RCV001797050]|Usher syndrome type 1 [RCV001272567]|Usher syndrome type 1D [RCV001103712]|not provided [RCV000950191]|not specified [RCV000039165] Chr10:71732116 [GRCh38]
Chr10:73491873 [GRCh37]
Chr10:10q22.1
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_022124.6(CDH23):c.3986G>A (p.Gly1329Asp) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 12 [RCV000764916]|Autosomal recessive nonsyndromic hearing loss 12 [RCV001105665]|Usher syndrome type 1 [RCV001831663]|Usher syndrome type 1D [RCV001105664]|not provided [RCV000726811]|not specified [RCV000039168] Chr10:71732257 [GRCh38]
Chr10:73492014 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_022124.6(CDH23):c.3999G>A (p.Val1333=) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 12 [RCV001105666]|Usher syndrome type 1 [RCV001831664]|Usher syndrome type 1D [RCV001105667]|not provided [RCV000885396]|not specified [RCV000039169] Chr10:71732270 [GRCh38]
Chr10:73492027 [GRCh37]
Chr10:10q22.1
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_022124.6(CDH23):c.4045C>T (p.Arg1349Cys) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 12 [RCV001106790]|Usher syndrome type 1 [RCV001831665]|Usher syndrome type 1D [RCV001106789]|not provided [RCV000892452]|not specified [RCV000039170] Chr10:71732316 [GRCh38]
Chr10:73492073 [GRCh37]
Chr10:10q22.1
benign|likely benign|uncertain significance
NM_022124.6(CDH23):c.4051A>G (p.Asn1351Asp) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 12 [RCV000345614]|Retinitis pigmentosa-deafness syndrome [RCV000397439]|Usher syndrome type 1 [RCV001272892]|Usher syndrome type 1D [RCV001094003]|not provided [RCV001516031]|not specified [RCV000039171] Chr10:71732322 [GRCh38]
Chr10:73492079 [GRCh37]
Chr10:10q22.1
benign|likely benign
NM_022124.6(CDH23):c.4068C>G (p.Thr1356=) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 12 [RCV000358294]|Usher syndrome type 1 [RCV001831666]|Usher syndrome type 1D [RCV000305911]|not provided [RCV000827160]|not specified [RCV000039172] Chr10:71732339 [GRCh38]
Chr10:73492096 [GRCh37]
Chr10:10q22.1
benign|likely benign|uncertain significance
NM_022124.6(CDH23):c.3929C>A (p.Ala1310Asp) single nucleotide variant Usher syndrome type 1D [RCV000119815] Chr10:71732200 [GRCh38]
Chr10:73491957 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_022124.6(CDH23):c.4104+4A>T single nucleotide variant Usher syndrome type 1D [RCV000119816] Chr10:71732379 [GRCh38]
Chr10:73492136 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_022124.6(CDH23):c.4207-18T>C single nucleotide variant not provided [RCV001519569]|not specified [RCV000124193] Chr10:71734638 [GRCh38]
Chr10:73494395 [GRCh37]
Chr10:10q22.1
benign
NM_022124.6(CDH23):c.4209+9C>T single nucleotide variant not provided [RCV001494137] Chr10:71734667 [GRCh38]
Chr10:73494424 [GRCh37]
Chr10:10q22.1
likely benign
GRCh38/hg38 10q11.21-22.2(chr10:42685306-73715908)x3 copy number gain See cases [RCV000134848] Chr10:42685306..73715908 [GRCh38]
Chr10:43180754..75475666 [GRCh37]
Chr10:42500760..75145672 [NCBI36]
Chr10:10q11.21-22.2
pathogenic
GRCh38/hg38 10q21.3-22.3(chr10:67196567-79422057)x3 copy number gain See cases [RCV000135438] Chr10:67196567..79422057 [GRCh38]
Chr10:68956325..81181813 [GRCh37]
Chr10:68626331..80851819 [NCBI36]
Chr10:10q21.3-22.3
pathogenic
GRCh38/hg38 10q21.3-22.2(chr10:63402579-75296099)x1 copy number loss See cases [RCV000136658] Chr10:63402579..75296099 [GRCh38]
Chr10:65162339..77055857 [GRCh37]
Chr10:64832345..76725863 [NCBI36]
Chr10:10q21.3-22.2
pathogenic|likely benign
GRCh38/hg38 10q11.23-23.2(chr10:50729367-87147204)x3 copy number gain See cases [RCV000138007] Chr10:50729367..87147204 [GRCh38]
Chr10:52489127..88906961 [GRCh37]
Chr10:52159133..88896941 [NCBI36]
Chr10:10q11.23-23.2
pathogenic
NM_022124.6(CDH23):c.3503G>A (p.Arg1168Gln) single nucleotide variant Usher syndrome type 1 [RCV001826804]|not provided [RCV001222929]|not specified [RCV000150290] Chr10:71725444 [GRCh38]
Chr10:73485201 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_022124.6(CDH23):c.3230C>T (p.Pro1077Leu) single nucleotide variant Retinal dystrophy [RCV001075173]|Usher syndrome type 1 [RCV001835686]|not provided [RCV001046427]|not specified [RCV000150288] Chr10:71712674 [GRCh38]
Chr10:73472431 [GRCh37]
Chr10:10q22.1
conflicting interpretations of pathogenicity|uncertain significance
NM_022124.6(CDH23):c.3326C>T (p.Ala1109Val) single nucleotide variant not specified [RCV000155989] Chr10:71712770 [GRCh38]
Chr10:73472527 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_022124.6(CDH23):c.4104+22G>T single nucleotide variant not specified [RCV000150292] Chr10:71732397 [GRCh38]
Chr10:73492154 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_022124.5(CDH23):c.(?_3716)_(4146_?)del deletion Rare genetic deafness [RCV000156137] Chr10:71731987..71734281 [GRCh38]
Chr10:73491744..73494038 [GRCh37]
Chr10:10q22.1
pathogenic
NM_022124.6(CDH23):c.4051= (p.Asn1351=) single nucleotide variant not specified [RCV000154336] Chr10:71732322 [GRCh38]
Chr10:73492079 [GRCh37]
Chr10:10q22.1
benign
NM_022124.6(CDH23):c.3869C>T (p.Pro1290Leu) single nucleotide variant Usher syndrome type 1 [RCV001831934]|not provided [RCV001045654]|not specified [RCV000150291] Chr10:71732140 [GRCh38]
Chr10:73491897 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_022124.6(CDH23):c.3580-13C>T single nucleotide variant Autosomal recessive nonsyndromic hearing loss 12 [RCV000350161]|Usher syndrome type 1D [RCV000394453]|not provided [RCV001510244]|not specified [RCV000155047] Chr10:71730456 [GRCh38]
Chr10:73490213 [GRCh37]
Chr10:10q22.1
benign|likely benign|uncertain significance
NM_022124.6(CDH23):c.4203C>T (p.Thr1401=) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 12 [RCV001107422]|Usher syndrome type 1D [RCV001107423]|not provided [RCV000827161]|not specified [RCV000155355] Chr10:71734338 [GRCh38]
Chr10:73494095 [GRCh37]
Chr10:10q22.1
benign|likely benign|uncertain significance
NM_022124.6(CDH23):c.4000C>T (p.Arg1334Trp) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 12 [RCV000764917]|Usher syndrome [RCV001171524]|Usher syndrome type 1 [RCV001831967]|not provided [RCV001239311]|not specified [RCV000155442] Chr10:71732271 [GRCh38]
Chr10:73492028 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_022124.6(CDH23):c.3301A>G (p.Ile1101Val) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 12 [RCV000338523]|Inborn genetic diseases [RCV003352781]|Usher syndrome type 1D [RCV000281132]|not provided [RCV000152947] Chr10:71712745 [GRCh38]
Chr10:73472502 [GRCh37]
Chr10:10q22.1
conflicting interpretations of pathogenicity|uncertain significance
NM_022124.6(CDH23):c.4209+1G>T single nucleotide variant Pituitary adenoma 5, multiple types [RCV003474807]|not provided [RCV000177808] Chr10:71734659 [GRCh38]
Chr10:73494416 [GRCh37]
Chr10:10q22.1
pathogenic|likely pathogenic
NM_022124.6(CDH23):c.3839TGA[1] (p.Met1281del) microsatellite Usher syndrome type 1D [RCV000005199] Chr10:71732109..71732111 [GRCh38]
Chr10:73491866..73491868 [GRCh37]
Chr10:10q22.1
pathogenic|likely pathogenic
NM_022124.6(CDH23):c.3802G>A (p.Val1268Met) single nucleotide variant CDH23-related condition [RCV003398891]|Usher syndrome type 1 [RCV001826900]|not provided [RCV000177658]|not specified [RCV000825301] Chr10:71732073 [GRCh38]
Chr10:73491830 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_022124.6(CDH23):c.3299C>T (p.Pro1100Leu) single nucleotide variant not specified [RCV000222302] Chr10:71712743 [GRCh38]
Chr10:73472500 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_022124.6(CDH23):c.3328A>G (p.Ser1110Gly) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 12 [RCV001103612]|Usher syndrome type 1 [RCV001828064]|Usher syndrome type 1D [RCV001103611]|not provided [RCV001240604]|not specified [RCV000217626] Chr10:71712772 [GRCh38]
Chr10:73472529 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_022124.6(CDH23):c.4207-8G>T single nucleotide variant not provided [RCV001409249]|not specified [RCV000215606] Chr10:71734648 [GRCh38]
Chr10:73494405 [GRCh37]
Chr10:10q22.1
likely benign|uncertain significance
NM_022124.6(CDH23):c.4046G>A (p.Arg1349His) single nucleotide variant Usher syndrome type 1 [RCV001828063]|not provided [RCV001228297]|not specified [RCV000218480] Chr10:71732317 [GRCh38]
Chr10:73492074 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_022124.6(CDH23):c.3847G>A (p.Val1283Met) single nucleotide variant Usher syndrome type 1 [RCV001272890]|not provided [RCV000513052]|not specified [RCV000216214] Chr10:71732118 [GRCh38]
Chr10:73491875 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_022124.6(CDH23):c.3566G>T (p.Arg1189Leu) single nucleotide variant not specified [RCV000221217] Chr10:71725507 [GRCh38]
Chr10:73485264 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_022124.6(CDH23):c.3739C>T (p.Arg1247Cys) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 12 [RCV000295466]|Autosomal recessive nonsyndromic hearing loss 12 [RCV000764915]|CDH23-Related Disorders [RCV000373597]|Usher syndrome type 1 [RCV001272564]|Usher syndrome type 1D [RCV000316688]|not provided [RCV000766504]|not specified [RCV000223124] Chr10:71732010 [GRCh38]
Chr10:73491767 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_022124.6(CDH23):c.3431-6A>T single nucleotide variant Usher syndrome type 1 [RCV001272886]|not provided [RCV000727019]|not specified [RCV000221627] Chr10:71725366 [GRCh38]
Chr10:73485123 [GRCh37]
Chr10:10q22.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_022124.6(CDH23):c.3370-29G>A single nucleotide variant not provided [RCV000837047]|not specified [RCV000248456] Chr10:71724016 [GRCh38]
Chr10:73483773 [GRCh37]
Chr10:10q22.1
benign
NM_022124.6(CDH23):c.4179C>T (p.Asp1393=) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 12 [RCV000389279]|CDH23-Related Disorders [RCV000273841]|Usher syndrome type 1D [RCV000332278]|not provided [RCV000903491] Chr10:71734314 [GRCh38]
Chr10:73494071 [GRCh37]
Chr10:10q22.1
likely benign|uncertain significance
NM_022124.6(CDH23):c.4147G>A (p.Asp1383Asn) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 12 [RCV002470841]|Nonsyndromic Hearing Loss, Recessive [RCV000260791]|Retinitis pigmentosa-deafness syndrome [RCV000353292]|not provided [RCV002520616] Chr10:71734282 [GRCh38]
Chr10:73494039 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_022124.6(CDH23):c.3915C>T (p.Asn1305=) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 12 [RCV000294260]|CDH23-Related Disorders [RCV000386177]|Usher syndrome type 1D [RCV000352687]|not provided [RCV001425757] Chr10:71732186 [GRCh38]
Chr10:73491943 [GRCh37]
Chr10:10q22.1
likely benign|uncertain significance
NM_001164375.3(C10orf105):c.*3111C>T single nucleotide variant Autosomal recessive nonsyndromic hearing loss 12 [RCV000404267]|Usher syndrome type 1D [RCV000311695]|not provided [RCV001403346]|not specified [RCV000611678] Chr10:71712825 [GRCh38]
Chr10:73472582 [GRCh37]
Chr10:10q22.1
likely benign|uncertain significance
NM_022124.6(CDH23):c.4103C>T (p.Thr1368Met) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 12 [RCV000300732]|Usher syndrome type 1D [RCV000265935]|not provided [RCV002520615] Chr10:71732374 [GRCh38]
Chr10:73492131 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_022124.6(CDH23):c.3613G>T (p.Ala1205Ser) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 12 [RCV000304966]|CDH23-Related Disorders [RCV000361962]|Usher syndrome type 1D [RCV000270828] Chr10:71730502 [GRCh38]
Chr10:73490259 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_022124.6(CDH23):c.3784A>C (p.Thr1262Pro) single nucleotide variant not provided [RCV000285550] Chr10:71732055 [GRCh38]
Chr10:73491812 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_022124.6(CDH23):c.3614C>T (p.Ala1205Val) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 12 [RCV000373739]|CDH23-Related Disorders [RCV000265055]|Usher syndrome type 1D [RCV000322537] Chr10:71730503 [GRCh38]
Chr10:73490260 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_022124.6(CDH23):c.3852G>A (p.Ser1284=) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 12 [RCV001103713]|Usher syndrome type 1D [RCV001103714]|not provided [RCV000291847] Chr10:71732123 [GRCh38]
Chr10:73491880 [GRCh37]
Chr10:10q22.1
conflicting interpretations of pathogenicity|uncertain significance
NM_022124.6(CDH23):c.3486G>C (p.Gly1162=) single nucleotide variant not provided [RCV000262260] Chr10:71725427 [GRCh38]
Chr10:73485184 [GRCh37]
Chr10:10q22.1
conflicting interpretations of pathogenicity|uncertain significance
NM_022124.6(CDH23):c.4070A>G (p.Gln1357Arg) single nucleotide variant Usher syndrome type 1 [RCV001277729]|not provided [RCV001880239] Chr10:71732341 [GRCh38]
Chr10:73492098 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_022124.6(CDH23):c.3764A>T (p.Lys1255Met) single nucleotide variant Usher syndrome type 1 [RCV001272565]|not provided [RCV000489371] Chr10:71732035 [GRCh38]
Chr10:73491792 [GRCh37]
Chr10:10q22.1
conflicting interpretations of pathogenicity|uncertain significance
NM_022124.6(CDH23):c.3330C>G (p.Ser1110Arg) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 12 [RCV002486027]|Usher syndrome type 1 [RCV001277722]|not provided [RCV002537768] Chr10:71712774 [GRCh38]
Chr10:73472531 [GRCh37]
Chr10:10q22.1
likely benign|uncertain significance
NM_022124.6(CDH23):c.3972G>A (p.Glu1324=) single nucleotide variant Usher syndrome type 1 [RCV001277727] Chr10:71732243 [GRCh38]
Chr10:73492000 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_022124.6(CDH23):c.4116A>G (p.Thr1372=) single nucleotide variant Usher syndrome type 1 [RCV001277730]|not provided [RCV001470291] Chr10:71734251 [GRCh38]
Chr10:73494008 [GRCh37]
Chr10:10q22.1
likely benign|uncertain significance
NM_022124.6(CDH23):c.3839T>A (p.Met1280Lys) single nucleotide variant not provided [RCV000595308] Chr10:71732110 [GRCh38]
Chr10:73491867 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_022124.6(CDH23):c.4005C>G (p.Val1335=) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 12 [RCV000346648]|CDH23-Related Disorders [RCV000402686]|Usher syndrome type 1D [RCV000307044]|not provided [RCV002059557] Chr10:71732276 [GRCh38]
Chr10:73492033 [GRCh37]
Chr10:10q22.1
likely benign|uncertain significance
NM_022124.6(CDH23):c.3924C>T (p.Asp1308=) single nucleotide variant Usher syndrome type 1 [RCV001835860]|not provided [RCV000592156] Chr10:71732195 [GRCh38]
Chr10:73491952 [GRCh37]
Chr10:10q22.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_022124.6(CDH23):c.3575_3576delinsGT (p.Val1192Gly) indel not provided [RCV000599331] Chr10:71725516..71725517 [GRCh38]
Chr10:73485273..73485274 [GRCh37]
Chr10:10q22.1
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_022124.6(CDH23):c.3916G>C (p.Glu1306Gln) single nucleotide variant Inborn genetic diseases [RCV002535204]|not provided [RCV000731338] Chr10:71732187 [GRCh38]
Chr10:73491944 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_022124.6(CDH23):c.3927G>A (p.Glu1309=) single nucleotide variant Usher syndrome type 1 [RCV001273539]|not provided [RCV000732329] Chr10:71732198 [GRCh38]
Chr10:73491955 [GRCh37]
Chr10:10q22.1
conflicting interpretations of pathogenicity|uncertain significance
NM_022124.6(CDH23):c.3221-2A>G single nucleotide variant not provided [RCV000731523] Chr10:71712663 [GRCh38]
Chr10:73472420 [GRCh37]
Chr10:10q22.1
pathogenic
NM_022124.6(CDH23):c.3477G>C (p.Leu1159=) single nucleotide variant not provided [RCV000734017] Chr10:71725418 [GRCh38]
Chr10:73485175 [GRCh37]
Chr10:10q22.1
conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3 copy number gain See cases [RCV000448750] Chr10:93297..135378918 [GRCh37]
Chr10:10p15.3-q26.3
pathogenic
NM_022124.6(CDH23):c.3250G>T (p.Gly1084Cys) single nucleotide variant Usher syndrome type 1 [RCV001834562]|not provided [RCV000485994] Chr10:71712694 [GRCh38]
Chr10:73472451 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_022124.6(CDH23):c.4136G>T (p.Arg1379Leu) single nucleotide variant Pituitary adenoma 5, multiple types [RCV000504588]|not specified [RCV003317244] Chr10:71734271 [GRCh38]
Chr10:73494028 [GRCh37]
Chr10:10q22.1
pathogenic|uncertain significance
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143) copy number gain See cases [RCV000511389] Chr10:100027..135427143 [GRCh37]
Chr10:10p15.3-q26.3
pathogenic|uncertain significance
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3 copy number gain See cases [RCV000510861] Chr10:100027..135427143 [GRCh37]
Chr10:10p15.3-q26.3
pathogenic
NM_022124.6(CDH23):c.3950C>T (p.Ser1317Leu) single nucleotide variant Inborn genetic diseases [RCV003291770] Chr10:71732221 [GRCh38]
Chr10:73491978 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_022124.6(CDH23):c.3241C>T (p.Arg1081Ter) single nucleotide variant Inborn genetic diseases [RCV000624916]|Usher syndrome type 1 [RCV001834974]|Usher syndrome type 1D [RCV001805224]|not provided [RCV001386697] Chr10:71712685 [GRCh38]
Chr10:73472442 [GRCh37]
Chr10:10q22.1
pathogenic|likely pathogenic
NM_022124.6(CDH23):c.3408T>A (p.Arg1136=) single nucleotide variant not provided [RCV001442648]|not specified [RCV000610175] Chr10:71724083 [GRCh38]
Chr10:73483840 [GRCh37]
Chr10:10q22.1
likely benign
NM_022124.6(CDH23):c.4104+44C>T single nucleotide variant not specified [RCV000610905] Chr10:71732419 [GRCh38]
Chr10:73492176 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_022124.6(CDH23):c.3684C>G (p.Val1228=) single nucleotide variant not provided [RCV000596882] Chr10:71730573 [GRCh38]
Chr10:73490330 [GRCh37]
Chr10:10q22.1
uncertain significance
GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000626438] Chr10:42347406..135534747 [GRCh37]
Chr10:10q11.21-26.3
drug response
NM_022124.6(CDH23):c.3428dup (p.His1143fs) duplication Usher syndrome type 1D [RCV000678532] Chr10:71724102..71724103 [GRCh38]
Chr10:73483859..73483860 [GRCh37]
Chr10:10q22.1
pathogenic
GRCh37/hg19 10q22.1(chr10:73321268-73554051)x1 copy number loss not provided [RCV000683208] Chr10:73321268..73554051 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_022124.6(CDH23):c.3929C>T (p.Ala1310Val) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 12 [RCV000678986] Chr10:71732200 [GRCh38]
Chr10:73491957 [GRCh37]
Chr10:10q22.1
uncertain significance
GRCh37/hg19 10q21.3-23.32(chr10:69040366-93194993)x3 copy number gain not provided [RCV000683289] Chr10:69040366..93194993 [GRCh37]
Chr10:10q21.3-23.32
pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:73232-135524321)x3 copy number gain not provided [RCV000749464] Chr10:73232..135524321 [GRCh37]
Chr10:10p15.3-q26.3
pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:98087-135477883)x3 copy number gain not provided [RCV000749465] Chr10:98087..135477883 [GRCh37]
Chr10:10p15.3-q26.3
pathogenic
NM_022124.6(CDH23):c.3431-133T>C single nucleotide variant Autosomal recessive nonsyndromic hearing loss 12 [RCV001533772]|Usher syndrome type 1D [RCV001533771]|not provided [RCV001725225] Chr10:71725239 [GRCh38]
Chr10:73484996 [GRCh37]
Chr10:10q22.1
benign|likely benign
NM_022124.6(CDH23):c.4183G>A (p.Gly1395Ser) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 12 [RCV001559298]|Usher syndrome type 1D [RCV001559299] Chr10:71734318 [GRCh38]
Chr10:73494075 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_022124.6(CDH23):c.3488C>G (p.Pro1163Arg) single nucleotide variant not provided [RCV000994439] Chr10:71725429 [GRCh38]
Chr10:73485186 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_001164375.3(C10orf105):c.*3278G>A single nucleotide variant Usher syndrome type 1 [RCV001272556]|not provided [RCV000982523] Chr10:71712658 [GRCh38]
Chr10:73472415 [GRCh37]
Chr10:10q22.1
likely benign|uncertain significance
NM_022124.6(CDH23):c.3438T>C (p.His1146=) single nucleotide variant not provided [RCV001462722]|not specified [RCV000825127] Chr10:71725379 [GRCh38]
Chr10:73485136 [GRCh37]
Chr10:10q22.1
likely benign
NM_022124.6(CDH23):c.3305T>A (p.Phe1102Tyr) single nucleotide variant Usher syndrome type 1 [RCV001830831]|not specified [RCV000825297] Chr10:71712749 [GRCh38]
Chr10:73472506 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_022124.6(CDH23):c.3712T>G (p.Ser1238Ala) single nucleotide variant Usher syndrome type 1 [RCV001830843]|not provided [RCV001371495]|not specified [RCV000825888] Chr10:71730601 [GRCh38]
Chr10:73490358 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_022124.6(CDH23):c.4128G>C (p.Leu1376=) single nucleotide variant not provided [RCV002067405]|not specified [RCV000825124] Chr10:71734263 [GRCh38]
Chr10:73494020 [GRCh37]
Chr10:10q22.1
likely benign
NM_022124.6(CDH23):c.3537G>A (p.Glu1179=) single nucleotide variant not provided [RCV000927842] Chr10:71725478 [GRCh38]
Chr10:73485235 [GRCh37]
Chr10:10q22.1
likely benign
NM_022124.6(CDH23):c.3716-8T>C single nucleotide variant not provided [RCV000927863] Chr10:71731979 [GRCh38]
Chr10:73491736 [GRCh37]
Chr10:10q22.1
likely benign
NM_022124.6(CDH23):c.3353del (p.Gly1118fs) deletion Usher syndrome type 1D [RCV001544524] Chr10:71712796 [GRCh38]
Chr10:73472553 [GRCh37]
Chr10:10q22.1
pathogenic
NM_022124.6(CDH23):c.3899A>G (p.Tyr1300Cys) single nucleotide variant not provided [RCV001045307] Chr10:71732170 [GRCh38]
Chr10:73491927 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_022124.6(CDH23):c.3248C>T (p.Thr1083Met) single nucleotide variant Usher syndrome type 1 [RCV001272557]|not provided [RCV001046321] Chr10:71712692 [GRCh38]
Chr10:73472449 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_022124.6(CDH23):c.4136G>A (p.Arg1379His) single nucleotide variant Usher syndrome type 1 [RCV001833614]|not provided [RCV001062558] Chr10:71734271 [GRCh38]
Chr10:73494028 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_022124.6(CDH23):c.4206+5G>A single nucleotide variant Usher syndrome type 1 [RCV001836070]|not provided [RCV001035474] Chr10:71734346 [GRCh38]
Chr10:73494103 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_022124.6(CDH23):c.3688G>A (p.Val1230Met) single nucleotide variant Usher syndrome [RCV003389483]|Usher syndrome type 1 [RCV001272889]|not provided [RCV001049323] Chr10:71730577 [GRCh38]
Chr10:73490334 [GRCh37]
Chr10:10q22.1
likely pathogenic|uncertain significance
NM_022124.6(CDH23):c.3342C>T (p.Asp1114=) single nucleotide variant not provided [RCV000978618] Chr10:71712786 [GRCh38]
Chr10:73472543 [GRCh37]
Chr10:10q22.1
likely benign
NM_022124.6(CDH23):c.4146C>T (p.Gly1382=) single nucleotide variant Usher syndrome type 1 [RCV001273541]|not provided [RCV000899174] Chr10:71734281 [GRCh38]
Chr10:73494038 [GRCh37]
Chr10:10q22.1
likely benign|uncertain significance
NM_022124.6(CDH23):c.3684C>T (p.Val1228=) single nucleotide variant not provided [RCV000920807] Chr10:71730573 [GRCh38]
Chr10:73490330 [GRCh37]
Chr10:10q22.1
likely benign
NM_022124.6(CDH23):c.3285G>C (p.Val1095=) single nucleotide variant not provided [RCV000977402] Chr10:71712729 [GRCh38]
Chr10:73472486 [GRCh37]
Chr10:10q22.1
likely benign
NM_022124.6(CDH23):c.3609T>C (p.Asp1203=) single nucleotide variant not provided [RCV000919548] Chr10:71730498 [GRCh38]
Chr10:73490255 [GRCh37]
Chr10:10q22.1
likely benign
NM_022124.6(CDH23):c.3579+1G>A single nucleotide variant Autosomal recessive nonsyndromic hearing loss 12 [RCV000770812] Chr10:71725521 [GRCh38]
Chr10:73485278 [GRCh37]
Chr10:10q22.1
pathogenic
NM_022124.6(CDH23):c.3231T>G (p.Pro1077=) single nucleotide variant not provided [RCV000841837] Chr10:71712675 [GRCh38]
Chr10:73472432 [GRCh37]
Chr10:10q22.1
likely benign
NM_022124.6(CDH23):c.4105-4_4105-2delinsTCT indel Autosomal recessive nonsyndromic hearing loss 12 [RCV002501059]|not provided [RCV000797837] Chr10:71734236..71734238 [GRCh38]
Chr10:73493993..73493995 [GRCh37]
Chr10:10q22.1
pathogenic|likely pathogenic
NM_022124.6(CDH23):c.3352G>A (p.Gly1118Ser) single nucleotide variant Usher syndrome type 1 [RCV001272559]|not provided [RCV000915870] Chr10:71712796 [GRCh38]
Chr10:73472553 [GRCh37]
Chr10:10q22.1
likely benign
NM_022124.6(CDH23):c.4206+131T>C single nucleotide variant Autosomal recessive nonsyndromic hearing loss 12 [RCV001554728]|Pituitary adenoma 5, multiple types [RCV001554730]|Usher syndrome type 1D [RCV001554729]|not provided [RCV000838378] Chr10:71734472 [GRCh38]
Chr10:73494229 [GRCh37]
Chr10:10q22.1
benign
NM_022124.6(CDH23):c.3331G>T (p.Val1111Phe) single nucleotide variant Vitreoretinopathy [RCV000787807] Chr10:71712775 [GRCh38]
Chr10:73472532 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_022124.6(CDH23):c.4206+61T>A single nucleotide variant Autosomal recessive nonsyndromic hearing loss 12 [RCV001533588]|Usher syndrome type 1D [RCV001533587]|not provided [RCV000829476] Chr10:71734402 [GRCh38]
Chr10:73494159 [GRCh37]
Chr10:10q22.1
benign
NM_022124.6(CDH23):c.4105-7C>T single nucleotide variant not provided [RCV000894932] Chr10:71734233 [GRCh38]
Chr10:73493990 [GRCh37]
Chr10:10q22.1
likely benign
NM_001164375.3(C10orf105):c.*2825G>C single nucleotide variant not provided [RCV000840300] Chr10:71713111 [GRCh38]
Chr10:73472868 [GRCh37]
Chr10:10q22.1
benign
NM_001164375.3(C10orf105):c.*2811G>A single nucleotide variant not provided [RCV000840301] Chr10:71713125 [GRCh38]
Chr10:73472882 [GRCh37]
Chr10:10q22.1
benign
NM_022124.6(CDH23):c.3486G>A (p.Gly1162=) single nucleotide variant not provided [RCV000977795] Chr10:71725427 [GRCh38]
Chr10:73485184 [GRCh37]
Chr10:10q22.1
likely benign
NC_000010.11:g.71724016G>A single nucleotide variant not provided [RCV000837047] Chr10:73483773 [GRCh37]
Chr10:10q22.1
benign
NM_022124.6(CDH23):c.4011C>A (p.Ala1337=) single nucleotide variant Usher syndrome type 1 [RCV001832281]|not provided [RCV000981049] Chr10:71732282 [GRCh38]
Chr10:73492039 [GRCh37]
Chr10:10q22.1
likely benign
NM_022124.6(CDH23):c.3522C>T (p.His1174=) single nucleotide variant Usher syndrome type 1 [RCV001272563]|not provided [RCV000942877] Chr10:71725463 [GRCh38]
Chr10:73485220 [GRCh37]
Chr10:10q22.1
likely benign|uncertain significance
NM_022124.6(CDH23):c.3819C>T (p.Tyr1273=) single nucleotide variant not provided [RCV000896025] Chr10:71732090 [GRCh38]
Chr10:73491847 [GRCh37]
Chr10:10q22.1
likely benign
NM_022124.6(CDH23):c.3370-46T>C single nucleotide variant Autosomal recessive nonsyndromic hearing loss 12 [RCV001533766]|Usher syndrome type 1D [RCV001533765]|not provided [RCV000835780] Chr10:71723999 [GRCh38]
Chr10:73483756 [GRCh37]
Chr10:10q22.1
benign
NM_022124.6(CDH23):c.4104+15del deletion not provided [RCV001170027] Chr10:71732386 [GRCh38]
Chr10:73492143 [GRCh37]
Chr10:10q22.1
pathogenic|conflicting interpretations of pathogenicity
NM_022124.6(CDH23):c.3482G>A (p.Arg1161Gln) single nucleotide variant Usher syndrome type 1 [RCV001835143]|not provided [RCV001242901] Chr10:71725423 [GRCh38]
Chr10:73485180 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_022124.6(CDH23):c.3579+3G>A single nucleotide variant Usher syndrome type 1 [RCV001829013]|not provided [RCV001243085] Chr10:71725523 [GRCh38]
Chr10:73485280 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_022124.6(CDH23):c.3592G>A (p.Val1198Met) single nucleotide variant Usher syndrome type 1 [RCV001835159]|not provided [RCV001243193] Chr10:71730481 [GRCh38]
Chr10:73490238 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_022124.6(CDH23):c.3707G>A (p.Arg1236Gln) single nucleotide variant Usher syndrome type 1 [RCV001828979]|not provided [RCV001241542] Chr10:71730596 [GRCh38]
Chr10:73490353 [GRCh37]
Chr10:10q22.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_022124.6(CDH23):c.3730G>A (p.Val1244Met) single nucleotide variant Usher syndrome type 1 [RCV001834063]|not provided [RCV001238264] Chr10:71732001 [GRCh38]
Chr10:73491758 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_022124.6(CDH23):c.4096G>A (p.Ala1366Thr) single nucleotide variant Usher syndrome type 1 [RCV001828903]|not provided [RCV001238589] Chr10:71732367 [GRCh38]
Chr10:73492124 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_022124.6(CDH23):c.3431-8C>A single nucleotide variant not provided [RCV001242363] Chr10:71725364 [GRCh38]
Chr10:73485121 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_022124.6(CDH23):c.3580-19C>T single nucleotide variant not provided [RCV003109172] Chr10:71730450 [GRCh38]
Chr10:73490207 [GRCh37]
Chr10:10q22.1
likely benign
NM_022124.6(CDH23):c.4105-160C>T single nucleotide variant not provided [RCV001708578] Chr10:71734080 [GRCh38]
Chr10:73493837 [GRCh37]
Chr10:10q22.1
benign
NM_001164375.3(C10orf105):c.*3065G>A single nucleotide variant not provided [RCV001645583] Chr10:71712871 [GRCh38]
Chr10:73472628 [GRCh37]
Chr10:10q22.1
benign
NM_022124.6(CDH23):c.3580-11G>A single nucleotide variant not provided [RCV001557400] Chr10:71730458 [GRCh38]
Chr10:73490215 [GRCh37]
Chr10:10q22.1
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_022124.6(CDH23):c.4209+334G>A single nucleotide variant not provided [RCV001577785] Chr10:71734992 [GRCh38]
Chr10:73494749 [GRCh37]
Chr10:10q22.1
likely benign
NM_022124.6(CDH23):c.3580-240A>G single nucleotide variant not provided [RCV001620749] Chr10:71730229 [GRCh38]
Chr10:73489986 [GRCh37]
Chr10:10q22.1
benign
NM_001164375.3(C10orf105):c.*3000C>T single nucleotide variant not provided [RCV001694514] Chr10:71712936 [GRCh38]
Chr10:73472693 [GRCh37]
Chr10:10q22.1
benign
NM_022124.6(CDH23):c.4209+126G>A single nucleotide variant not provided [RCV001547769] Chr10:71734784 [GRCh38]
Chr10:73494541 [GRCh37]
Chr10:10q22.1
likely benign
NM_022124.6(CDH23):c.3597G>T (p.Glu1199Asp) single nucleotide variant Inborn genetic diseases [RCV003286993] Chr10:71730486 [GRCh38]
Chr10:73490243 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_022124.6(CDH23):c.4095C>T (p.Asp1365=) single nucleotide variant Usher syndrome type 1 [RCV001825822]|not provided [RCV000904887] Chr10:71732366 [GRCh38]
Chr10:73492123 [GRCh37]
Chr10:10q22.1
likely benign
NM_022124.6(CDH23):c.3381G>T (p.Thr1127=) single nucleotide variant not provided [RCV000931970] Chr10:71724056 [GRCh38]
Chr10:73483813 [GRCh37]
Chr10:10q22.1
likely benign
NM_022124.6(CDH23):c.4104+7G>A single nucleotide variant not provided [RCV000980798] Chr10:71732382 [GRCh38]
Chr10:73492139 [GRCh37]
Chr10:10q22.1
likely benign
NM_022124.6(CDH23):c.4040C>T (p.Thr1347Met) single nucleotide variant Usher syndrome type 1 [RCV001273540]|not provided [RCV001063308] Chr10:71732311 [GRCh38]
Chr10:73492068 [GRCh37]
Chr10:10q22.1
likely benign|uncertain significance
NM_022124.6(CDH23):c.4190A>G (p.Lys1397Arg) single nucleotide variant Usher syndrome type 1 [RCV001828819]|not provided [RCV001227986] Chr10:71734325 [GRCh38]
Chr10:73494082 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_022124.6(CDH23):c.3607G>A (p.Asp1203Asn) single nucleotide variant not provided [RCV003237037] Chr10:71730496 [GRCh38]
Chr10:73490253 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_022124.6(CDH23):c.4105-183G>C single nucleotide variant not provided [RCV001596680] Chr10:71734057 [GRCh38]
Chr10:73493814 [GRCh37]
Chr10:10q22.1
benign
NM_022124.6(CDH23):c.3370-157C>T single nucleotide variant not provided [RCV001688964] Chr10:71723888 [GRCh38]
Chr10:73483645 [GRCh37]
Chr10:10q22.1
benign
NM_022124.6(CDH23):c.3430+186T>C single nucleotide variant not provided [RCV001656115] Chr10:71724291 [GRCh38]
Chr10:73484048 [GRCh37]
Chr10:10q22.1
benign
NM_022124.6(CDH23):c.3820G>A (p.Glu1274Lys) single nucleotide variant Usher syndrome type 1 [RCV001827524]|not provided [RCV001593418] Chr10:71732091 [GRCh38]
Chr10:73491848 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_022124.6(CDH23):c.3579+185C>T single nucleotide variant not provided [RCV001616854] Chr10:71725705 [GRCh38]
Chr10:73485462 [GRCh37]
Chr10:10q22.1
benign
NM_022124.6(CDH23):c.3715+320G>A single nucleotide variant not provided [RCV001614695] Chr10:71730924 [GRCh38]
Chr10:73490681 [GRCh37]
Chr10:10q22.1
benign
NM_022124.6(CDH23):c.3407G>A (p.Arg1136His) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 12 [RCV001105552]|Usher syndrome type 1D [RCV001105551]|not specified [RCV001779117] Chr10:71724082 [GRCh38]
Chr10:73483839 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_022124.6(CDH23):c.3493C>T (p.Pro1165Ser) single nucleotide variant Usher syndrome type 1 [RCV001828516]|not provided [RCV001069304] Chr10:71725434 [GRCh38]
Chr10:73485191 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_022124.6(CDH23):c.3452G>A (p.Arg1151Gln) single nucleotide variant Usher syndrome type 1 [RCV001272561]|not provided [RCV001069568] Chr10:71725393 [GRCh38]
Chr10:73485150 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_022124.6(CDH23):c.3678G>A (p.Thr1226=) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 12 [RCV001108869]|Usher syndrome type 1D [RCV001108868]|not provided [RCV001432389] Chr10:71730567 [GRCh38]
Chr10:73490324 [GRCh37]
Chr10:10q22.1
likely benign|uncertain significance
NM_022124.6(CDH23):c.3431-189C>G single nucleotide variant not provided [RCV001669345] Chr10:71725183 [GRCh38]
Chr10:73484940 [GRCh37]
Chr10:10q22.1
benign
NM_022124.6(CDH23):c.4209+99G>A single nucleotide variant not provided [RCV001680939] Chr10:71734757 [GRCh38]
Chr10:73494514 [GRCh37]
Chr10:10q22.1
benign
NM_001164375.3(C10orf105):c.*2854C>T single nucleotide variant not provided [RCV001582192] Chr10:71713082 [GRCh38]
Chr10:73472839 [GRCh37]
Chr10:10q22.1
likely benign
NM_022124.6(CDH23):c.3370-253C>T single nucleotide variant not provided [RCV001679170] Chr10:71723792 [GRCh38]
Chr10:73483549 [GRCh37]
Chr10:10q22.1
benign
NM_022124.6(CDH23):c.4105-2A>T single nucleotide variant Usher syndrome type 1 [RCV001199451] Chr10:71734238 [GRCh38]
Chr10:73493995 [GRCh37]
Chr10:10q22.1
pathogenic
NM_022124.6(CDH23):c.3369+1G>A single nucleotide variant Retinal dystrophy [RCV001073483] Chr10:71712814 [GRCh38]
Chr10:73472571 [GRCh37]
Chr10:10q22.1
likely pathogenic
NM_022124.6(CDH23):c.3523G>T (p.Val1175Leu) single nucleotide variant Usher syndrome type 1 [RCV001835285]|not provided [RCV001246906] Chr10:71725464 [GRCh38]
Chr10:73485221 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_022124.6(CDH23):c.4054G>A (p.Ala1352Thr) single nucleotide variant Usher syndrome type 1 [RCV001832368]|not provided [RCV001035064] Chr10:71732325 [GRCh38]
Chr10:73492082 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_022124.6(CDH23):c.3242G>A (p.Arg1081Gln) single nucleotide variant not provided [RCV001045183] Chr10:71712686 [GRCh38]
Chr10:73472443 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_022124.6(CDH23):c.3468T>G (p.Asn1156Lys) single nucleotide variant Usher syndrome type 1 [RCV001828704]|not provided [RCV001213546] Chr10:71725409 [GRCh38]
Chr10:73485166 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_022124.6(CDH23):c.3547C>A (p.His1183Asn) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 12 [RCV001105556]|Usher syndrome type 1D [RCV001105555]|not provided [RCV001856418] Chr10:71725488 [GRCh38]
Chr10:73485245 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_022124.6(CDH23):c.4182C>T (p.Gly1394=) single nucleotide variant not provided [RCV001232015] Chr10:71734317 [GRCh38]
Chr10:73494074 [GRCh37]
Chr10:10q22.1
likely benign|uncertain significance
NM_022124.6(CDH23):c.3508C>T (p.Arg1170Trp) single nucleotide variant Usher syndrome type 1 [RCV001272562]|not provided [RCV001069819] Chr10:71725449 [GRCh38]
Chr10:73485206 [GRCh37]
Chr10:10q22.1
likely benign|uncertain significance
NM_022124.6(CDH23):c.4004T>C (p.Val1335Ala) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 12 [RCV002250737]|Usher syndrome type 1 [RCV001835323]|not provided [RCV001248128] Chr10:71732275 [GRCh38]
Chr10:73492032 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_022124.6(CDH23):c.3883G>A (p.Gly1295Ser) single nucleotide variant Inborn genetic diseases [RCV002553052]|not provided [RCV001039131] Chr10:71732154 [GRCh38]
Chr10:73491911 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_022124.6(CDH23):c.3864G>T (p.Gln1288His) single nucleotide variant not provided [RCV001215352] Chr10:71732135 [GRCh38]
Chr10:73491892 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_022124.6(CDH23):c.3445A>G (p.Asn1149Asp) single nucleotide variant Hearing impairment [RCV001375322]|Usher syndrome type 1 [RCV001828692]|not provided [RCV001211824] Chr10:71725386 [GRCh38]
Chr10:73485143 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_022124.6(CDH23):c.3417C>A (p.Tyr1139Ter) single nucleotide variant Retinal dystrophy [RCV001075253] Chr10:71724092 [GRCh38]
Chr10:73483849 [GRCh37]
Chr10:10q22.1
likely pathogenic
NM_022124.6(CDH23):c.3908T>G (p.Leu1303Arg) single nucleotide variant not provided [RCV001996348] Chr10:71732179 [GRCh38]
Chr10:73491936 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_022124.6(CDH23):c.3580-14C>T single nucleotide variant not provided [RCV001349390] Chr10:71730455 [GRCh38]
Chr10:73490212 [GRCh37]
Chr10:10q22.1
likely benign|uncertain significance
NM_022124.6(CDH23):c.3491G>A (p.Arg1164Gln) single nucleotide variant Usher syndrome type 1 [RCV001277725]|not provided [RCV001298735] Chr10:71725432 [GRCh38]
Chr10:73485189 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_022124.6(CDH23):c.3695A>G (p.Gln1232Arg) single nucleotide variant Inborn genetic diseases [RCV003353270]|Usher syndrome type 1 [RCV001277726]|not provided [RCV001880238] Chr10:71730584 [GRCh38]
Chr10:73490341 [GRCh37]
Chr10:10q22.1
likely benign|uncertain significance
NM_022124.6(CDH23):c.3605A>G (p.Asn1202Ser) single nucleotide variant not provided [RCV001300814] Chr10:71730494 [GRCh38]
Chr10:73490251 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_022124.6(CDH23):c.4180G>T (p.Gly1394Cys) single nucleotide variant not provided [RCV001352016] Chr10:71734315 [GRCh38]
Chr10:73494072 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_022124.6(CDH23):c.3351A>G (p.Glu1117=) single nucleotide variant Usher syndrome type 1 [RCV001277723]|not provided [RCV001437466] Chr10:71712795 [GRCh38]
Chr10:73472552 [GRCh37]
Chr10:10q22.1
likely benign|uncertain significance
NM_022124.6(CDH23):c.4056C>T (p.Ala1352=) single nucleotide variant not provided [RCV001422308] Chr10:71732327 [GRCh38]
Chr10:73492084 [GRCh37]
Chr10:10q22.1
likely benign
NM_022124.6(CDH23):c.4104+8G>C single nucleotide variant not provided [RCV001414542] Chr10:71732383 [GRCh38]
Chr10:73492140 [GRCh37]
Chr10:10q22.1
likely benign
NM_022124.6(CDH23):c.3523G>A (p.Val1175Met) single nucleotide variant Usher syndrome type 1 [RCV001826097]|not provided [RCV001371399] Chr10:71725464 [GRCh38]
Chr10:73485221 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_022124.6(CDH23):c.3968T>C (p.Leu1323Pro) single nucleotide variant not provided [RCV001373848] Chr10:71732239 [GRCh38]
Chr10:73491996 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_022124.6(CDH23):c.3467A>G (p.Asn1156Ser) single nucleotide variant Usher syndrome type 1 [RCV001277724]|not provided [RCV001880237] Chr10:71725408 [GRCh38]
Chr10:73485165 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_022124.6(CDH23):c.4041G>C (p.Thr1347=) single nucleotide variant Usher syndrome type 1 [RCV001277728]|not provided [RCV002537769] Chr10:71732312 [GRCh38]
Chr10:73492069 [GRCh37]
Chr10:10q22.1
likely benign|uncertain significance
NM_022124.6(CDH23):c.3832A>C (p.Ser1278Arg) single nucleotide variant not provided [RCV001341416] Chr10:71732103 [GRCh38]
Chr10:73491860 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_022124.6(CDH23):c.3472C>A (p.Leu1158Ile) single nucleotide variant not provided [RCV001327043] Chr10:71725413 [GRCh38]
Chr10:73485170 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_022124.6(CDH23):c.3226G>C (p.Gly1076Arg) single nucleotide variant not provided [RCV001311710] Chr10:71712670 [GRCh38]
Chr10:73472427 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_022124.6(CDH23):c.3591C>T (p.Tyr1197=) single nucleotide variant not provided [RCV001412364] Chr10:71730480 [GRCh38]
Chr10:73490237 [GRCh37]
Chr10:10q22.1
likely benign
NM_022124.6(CDH23):c.3777C>T (p.Asp1259=) single nucleotide variant not provided [RCV001494484] Chr10:71732048 [GRCh38]
Chr10:73491805 [GRCh37]
Chr10:10q22.1
likely benign
NM_022124.6(CDH23):c.4125C>T (p.Gly1375=) single nucleotide variant not provided [RCV001412810] Chr10:71734260 [GRCh38]
Chr10:73494017 [GRCh37]
Chr10:10q22.1
likely benign
NM_022124.6(CDH23):c.3685A>T (p.Ile1229Phe) single nucleotide variant not provided [RCV001315768] Chr10:71730574 [GRCh38]
Chr10:73490331 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_022124.6(CDH23):c.4044C>T (p.Tyr1348=) single nucleotide variant not provided [RCV001395529] Chr10:71732315 [GRCh38]
Chr10:73492072 [GRCh37]
Chr10:10q22.1
likely benign
NM_022124.6(CDH23):c.3852G>C (p.Ser1284=) single nucleotide variant not provided [RCV001485281] Chr10:71732123 [GRCh38]
Chr10:73491880 [GRCh37]
Chr10:10q22.1
likely benign
NM_022124.6(CDH23):c.3573C>T (p.Ser1191=) single nucleotide variant not provided [RCV001468076] Chr10:71725514 [GRCh38]
Chr10:73485271 [GRCh37]
Chr10:10q22.1
likely benign
NM_022124.6(CDH23):c.3546C>T (p.Asn1182=) single nucleotide variant not provided [RCV001450800] Chr10:71725487 [GRCh38]
Chr10:73485244 [GRCh37]
Chr10:10q22.1
likely benign
NM_022124.6(CDH23):c.3774T>A (p.Ile1258=) single nucleotide variant not provided [RCV001416929] Chr10:71732045 [GRCh38]
Chr10:73491802 [GRCh37]
Chr10:10q22.1
likely benign
NM_022124.6(CDH23):c.3870G>A (p.Pro1290=) single nucleotide variant not provided [RCV001427886] Chr10:71732141 [GRCh38]
Chr10:73491898 [GRCh37]
Chr10:10q22.1
likely benign
NM_022124.6(CDH23):c.3431-9T>C single nucleotide variant not provided [RCV001427946] Chr10:71725363 [GRCh38]
Chr10:73485120 [GRCh37]
Chr10:10q22.1
likely benign
NM_022124.6(CDH23):c.4041G>A (p.Thr1347=) single nucleotide variant not provided [RCV001461874] Chr10:71732312 [GRCh38]
Chr10:73492069 [GRCh37]
Chr10:10q22.1
likely benign
NM_022124.6(CDH23):c.3753C>T (p.Gly1251=) single nucleotide variant not provided [RCV001457971] Chr10:71732024 [GRCh38]
Chr10:73491781 [GRCh37]
Chr10:10q22.1
likely benign
NM_022124.6(CDH23):c.3993G>A (p.Glu1331=) single nucleotide variant not provided [RCV001505295] Chr10:71732264 [GRCh38]
Chr10:73492021 [GRCh37]
Chr10:10q22.1
likely benign
NM_022124.6(CDH23):c.4104+9C>T single nucleotide variant not provided [RCV001469092] Chr10:71732384 [GRCh38]
Chr10:73492141 [GRCh37]
Chr10:10q22.1
likely benign
NM_022124.6(CDH23):c.4105-4G>A single nucleotide variant not provided [RCV001471717] Chr10:71734236 [GRCh38]
Chr10:73493993 [GRCh37]
Chr10:10q22.1
likely benign
NM_022124.6(CDH23):c.3528G>C (p.Leu1176=) single nucleotide variant not provided [RCV001462909] Chr10:71725469 [GRCh38]
Chr10:73485226 [GRCh37]
Chr10:10q22.1
likely benign
NM_022124.6(CDH23):c.3867C>T (p.Ala1289=) single nucleotide variant not provided [RCV001442443] Chr10:71732138 [GRCh38]
Chr10:73491895 [GRCh37]
Chr10:10q22.1
likely benign
NM_022124.6(CDH23):c.4149C>T (p.Asp1383=) single nucleotide variant not provided [RCV001437525] Chr10:71734284 [GRCh38]
Chr10:73494041 [GRCh37]
Chr10:10q22.1
likely benign
NM_022124.6(CDH23):c.3267C>T (p.Phe1089=) single nucleotide variant not provided [RCV001481435] Chr10:71712711 [GRCh38]
Chr10:73472468 [GRCh37]
Chr10:10q22.1
likely benign
NM_022124.6(CDH23):c.3687C>T (p.Ile1229=) single nucleotide variant not provided [RCV001484906] Chr10:71730576 [GRCh38]
Chr10:73490333 [GRCh37]
Chr10:10q22.1
likely benign
NM_001164375.3(C10orf105):c.*3112G>A single nucleotide variant not provided [RCV001439543] Chr10:71712824 [GRCh38]
Chr10:73472581 [GRCh37]
Chr10:10q22.1
likely benign
NM_022124.6(CDH23):c.4053C>T (p.Asn1351=) single nucleotide variant not provided [RCV001440944] Chr10:71732324 [GRCh38]
Chr10:73492081 [GRCh37]
Chr10:10q22.1
likely benign
NM_022124.6(CDH23):c.4110G>A (p.Val1370=) single nucleotide variant not provided [RCV001397815] Chr10:71734245 [GRCh38]
Chr10:73494002 [GRCh37]
Chr10:10q22.1
likely benign
NM_022124.6(CDH23):c.3606C>T (p.Asn1202=) single nucleotide variant not provided [RCV001424859] Chr10:71730495 [GRCh38]
Chr10:73490252 [GRCh37]
Chr10:10q22.1
likely benign
NM_022124.6(CDH23):c.3261C>T (p.Thr1087=) single nucleotide variant not provided [RCV001399278] Chr10:71712705 [GRCh38]
Chr10:73472462 [GRCh37]
Chr10:10q22.1
likely benign
NM_022124.6(CDH23):c.3228C>G (p.Gly1076=) single nucleotide variant not provided [RCV001449092] Chr10:71712672 [GRCh38]
Chr10:73472429 [GRCh37]
Chr10:10q22.1
likely benign
NM_022124.6(CDH23):c.4137T>C (p.Arg1379=) single nucleotide variant not provided [RCV001407561] Chr10:71734272 [GRCh38]
Chr10:73494029 [GRCh37]
Chr10:10q22.1
likely benign
NM_022124.6(CDH23):c.3457del (p.His1153fs) deletion not provided [RCV001380529] Chr10:71725397 [GRCh38]
Chr10:73485154 [GRCh37]
Chr10:10q22.1
pathogenic
NM_022124.6(CDH23):c.3330C>T (p.Ser1110=) single nucleotide variant not provided [RCV001449461] Chr10:71712774 [GRCh38]
Chr10:73472531 [GRCh37]
Chr10:10q22.1
likely benign
NM_022124.6(CDH23):c.3954C>T (p.Tyr1318=) single nucleotide variant not provided [RCV001426059] Chr10:71732225 [GRCh38]
Chr10:73491982 [GRCh37]
Chr10:10q22.1
likely benign
NM_022124.6(CDH23):c.4206+1G>A single nucleotide variant Pituitary adenoma 5, multiple types [RCV003473915]|Usher syndrome type 1 [RCV001826148]|not provided [RCV001379081] Chr10:71734342 [GRCh38]
Chr10:73494099 [GRCh37]
Chr10:10q22.1
likely pathogenic
NM_022124.6(CDH23):c.4000C>A (p.Arg1334=) single nucleotide variant not provided [RCV001428821] Chr10:71732271 [GRCh38]
Chr10:73492028 [GRCh37]
Chr10:10q22.1
likely benign
NM_022124.6(CDH23):c.3655C>T (p.Arg1219Ter) single nucleotide variant Pituitary adenoma 5, multiple types [RCV003473970]|not provided [RCV001386698] Chr10:71730544 [GRCh38]
Chr10:73490301 [GRCh37]
Chr10:10q22.1
pathogenic
NM_022124.6(CDH23):c.3318C>T (p.Ser1106=) single nucleotide variant not provided [RCV001431239] Chr10:71712762 [GRCh38]
Chr10:73472519 [GRCh37]
Chr10:10q22.1
likely benign
NM_022124.6(CDH23):c.3528G>A (p.Leu1176=) single nucleotide variant not provided [RCV001426669] Chr10:71725469 [GRCh38]
Chr10:73485226 [GRCh37]
Chr10:10q22.1
likely benign
NM_022124.6(CDH23):c.3430+114T>C single nucleotide variant Autosomal recessive nonsyndromic hearing loss 12 [RCV001533768]|Usher syndrome type 1D [RCV001533767]|not provided [RCV001655826] Chr10:71724219 [GRCh38]
Chr10:73483976 [GRCh37]
Chr10:10q22.1
benign
NM_022124.6(CDH23):c.3431-205A>C single nucleotide variant Autosomal recessive nonsyndromic hearing loss 12 [RCV001533770]|Usher syndrome type 1D [RCV001533769]|not provided [RCV001673145] Chr10:71725167 [GRCh38]
Chr10:73484924 [GRCh37]
Chr10:10q22.1
benign|likely benign
NM_022124.6(CDH23):c.3651del (p.Leu1218fs) deletion not provided [RCV001390487] Chr10:71730537 [GRCh38]
Chr10:73490294 [GRCh37]
Chr10:10q22.1
pathogenic
NM_022124.6(CDH23):c.3987T>C (p.Gly1329=) single nucleotide variant not provided [RCV001431695] Chr10:71732258 [GRCh38]
Chr10:73492015 [GRCh37]
Chr10:10q22.1
likely benign
NM_022124.6(CDH23):c.3783C>T (p.Ser1261=) single nucleotide variant not provided [RCV001436583] Chr10:71732054 [GRCh38]
Chr10:73491811 [GRCh37]
Chr10:10q22.1
likely benign
NM_022124.6(CDH23):c.4207-10C>T single nucleotide variant not provided [RCV001427151] Chr10:71734646 [GRCh38]
Chr10:73494403 [GRCh37]
Chr10:10q22.1
likely benign
NM_001164375.3(C10orf105):c.*3280G>A single nucleotide variant not provided [RCV001408740] Chr10:71712656 [GRCh38]
Chr10:73472413 [GRCh37]
Chr10:10q22.1
likely benign
NM_022124.6(CDH23):c.3285G>T (p.Val1095=) single nucleotide variant not provided [RCV001408551] Chr10:71712729 [GRCh38]
Chr10:73472486 [GRCh37]
Chr10:10q22.1
likely benign
NM_022124.6(CDH23):c.3324G>A (p.Glu1108=) single nucleotide variant not provided [RCV001408554] Chr10:71712768 [GRCh38]
Chr10:73472525 [GRCh37]
Chr10:10q22.1
likely benign
NM_022124.6(CDH23):c.3381G>A (p.Thr1127=) single nucleotide variant not provided [RCV001419543] Chr10:71724056 [GRCh38]
Chr10:73483813 [GRCh37]
Chr10:10q22.1
likely benign
NM_022124.6(CDH23):c.3431-11C>A single nucleotide variant not provided [RCV001438181] Chr10:71725361 [GRCh38]
Chr10:73485118 [GRCh37]
Chr10:10q22.1
likely benign
NM_022124.6(CDH23):c.3240G>A (p.Lys1080=) single nucleotide variant not provided [RCV001448616] Chr10:71712684 [GRCh38]
Chr10:73472441 [GRCh37]
Chr10:10q22.1
likely benign
NM_022124.6(CDH23):c.3384C>T (p.Asp1128=) single nucleotide variant not provided [RCV001467714] Chr10:71724059 [GRCh38]
Chr10:73483816 [GRCh37]
Chr10:10q22.1
likely benign
NM_022124.6(CDH23):c.3633G>A (p.Gln1211=) single nucleotide variant not provided [RCV001472638] Chr10:71730522 [GRCh38]
Chr10:73490279 [GRCh37]
Chr10:10q22.1
likely benign
NM_022124.6(CDH23):c.4050_4051inv (p.Asn1351Asp) inversion not provided [RCV001478936] Chr10:71732321..71732322 [GRCh38]
Chr10:73492078..73492079 [GRCh37]
Chr10:10q22.1
likely benign
NM_022124.6(CDH23):c.3459T>C (p.His1153=) single nucleotide variant not provided [RCV001458894] Chr10:71725400 [GRCh38]
Chr10:73485157 [GRCh37]
Chr10:10q22.1
likely benign
NM_022124.6(CDH23):c.4207-125G>A single nucleotide variant not provided [RCV001655123] Chr10:71734531 [GRCh38]
Chr10:73494288 [GRCh37]
Chr10:10q22.1
benign
NM_022124.6(CDH23):c.3431-5C>A single nucleotide variant not provided [RCV001452334] Chr10:71725367 [GRCh38]
Chr10:73485124 [GRCh37]
Chr10:10q22.1
likely benign
NM_022124.6(CDH23):c.3225C>T (p.Asn1075=) single nucleotide variant not provided [RCV001455972] Chr10:71712669 [GRCh38]
Chr10:73472426 [GRCh37]
Chr10:10q22.1
likely benign
NM_022124.6(CDH23):c.3747G>A (p.Leu1249=) single nucleotide variant not provided [RCV001501229] Chr10:71732018 [GRCh38]
Chr10:73491775 [GRCh37]
Chr10:10q22.1
likely benign
NM_022124.6(CDH23):c.3894C>T (p.Ser1298=) single nucleotide variant not provided [RCV001470155] Chr10:71732165 [GRCh38]
Chr10:73491922 [GRCh37]
Chr10:10q22.1
likely benign
NM_022124.6(CDH23):c.4206+9G>C single nucleotide variant not provided [RCV001473553] Chr10:71734350 [GRCh38]
Chr10:73494107 [GRCh37]
Chr10:10q22.1
likely benign
NM_022124.6(CDH23):c.4185C>T (p.Gly1395=) single nucleotide variant not provided [RCV001462805] Chr10:71734320 [GRCh38]
Chr10:73494077 [GRCh37]
Chr10:10q22.1
likely benign
NM_022124.6(CDH23):c.3663C>T (p.Thr1221=) single nucleotide variant not provided [RCV001458827] Chr10:71730552 [GRCh38]
Chr10:73490309 [GRCh37]
Chr10:10q22.1
likely benign
NM_022124.6(CDH23):c.4020C>T (p.Ile1340=) single nucleotide variant not provided [RCV001501990] Chr10:71732291 [GRCh38]
Chr10:73492048 [GRCh37]
Chr10:10q22.1
likely benign
NM_022124.6(CDH23):c.3900C>T (p.Tyr1300=) single nucleotide variant not provided [RCV001499070] Chr10:71732171 [GRCh38]
Chr10:73491928 [GRCh37]
Chr10:10q22.1
likely benign
NM_022124.6(CDH23):c.3399G>A (p.Glu1133=) single nucleotide variant not provided [RCV001427593] Chr10:71724074 [GRCh38]
Chr10:73483831 [GRCh37]
Chr10:10q22.1
likely benign
NM_022124.6(CDH23):c.3660G>A (p.Glu1220=) single nucleotide variant not provided [RCV001393364] Chr10:71730549 [GRCh38]
Chr10:73490306 [GRCh37]
Chr10:10q22.1
likely benign
NM_022124.6(CDH23):c.3431-7C>T single nucleotide variant not provided [RCV001392871] Chr10:71725365 [GRCh38]
Chr10:73485122 [GRCh37]
Chr10:10q22.1
likely benign
NM_022124.6(CDH23):c.3549C>T (p.His1183=) single nucleotide variant not provided [RCV001496810] Chr10:71725490 [GRCh38]
Chr10:73485247 [GRCh37]
Chr10:10q22.1
likely benign
NM_022124.6(CDH23):c.3447C>T (p.Asn1149=) single nucleotide variant not provided [RCV001398144] Chr10:71725388 [GRCh38]
Chr10:73485145 [GRCh37]
Chr10:10q22.1
likely benign
NC_000010.10:g.(?_73199579)_(73501688_?)del deletion not provided [RCV001383845] Chr10:73199579..73501688 [GRCh37]
Chr10:10q22.1
pathogenic
NM_022124.6(CDH23):c.3431-4A>C single nucleotide variant not provided [RCV001480760] Chr10:71725368 [GRCh38]
Chr10:73485125 [GRCh37]
Chr10:10q22.1
likely benign
NM_022124.6(CDH23):c.3618C>T (p.Pro1206=) single nucleotide variant not provided [RCV001437342] Chr10:71730507 [GRCh38]
Chr10:73490264 [GRCh37]
Chr10:10q22.1
likely benign
NM_022124.6(CDH23):c.3339G>A (p.Glu1113=) single nucleotide variant not provided [RCV001468123] Chr10:71712783 [GRCh38]
Chr10:73472540 [GRCh37]
Chr10:10q22.1
likely benign
NM_022124.6(CDH23):c.3405G>A (p.Gly1135=) single nucleotide variant not provided [RCV001452535] Chr10:71724080 [GRCh38]
Chr10:73483837 [GRCh37]
Chr10:10q22.1
likely benign
NM_022124.6(CDH23):c.3967C>T (p.Leu1323=) single nucleotide variant not provided [RCV001468308] Chr10:71732238 [GRCh38]
Chr10:73491995 [GRCh37]
Chr10:10q22.1
likely benign
NM_022124.6(CDH23):c.4140G>A (p.Glu1380=) single nucleotide variant not provided [RCV001426715] Chr10:71734275 [GRCh38]
Chr10:73494032 [GRCh37]
Chr10:10q22.1
likely benign
NM_022124.6(CDH23):c.3431-19G>A single nucleotide variant not provided [RCV001428353] Chr10:71725353 [GRCh38]
Chr10:73485110 [GRCh37]
Chr10:10q22.1
likely benign
NM_022124.6(CDH23):c.3431-1G>A single nucleotide variant Usher syndrome type 1D [RCV002250926] Chr10:71725371 [GRCh38]
Chr10:73485128 [GRCh37]
Chr10:10q22.1
likely pathogenic
NM_022124.6(CDH23):c.3842T>C (p.Met1281Thr) single nucleotide variant not provided [RCV001760987] Chr10:71732113 [GRCh38]
Chr10:73491870 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_022124.6(CDH23):c.3366G>T (p.Leu1122Phe) single nucleotide variant not provided [RCV001752699] Chr10:71712810 [GRCh38]
Chr10:73472567 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_022124.6(CDH23):c.4051_4053delinsGAT (p.Asn1351Asp) indel not provided [RCV003321438] Chr10:71732322..71732324 [GRCh38]
Chr10:73492079..73492081 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_022124.6(CDH23):c.3492del (p.Leu1166fs) deletion Ear malformation [RCV001814325] Chr10:71725432 [GRCh38]
Chr10:73485189 [GRCh37]
Chr10:10q22.1
likely pathogenic
NM_022124.6(CDH23):c.4104+1G>T single nucleotide variant not provided [RCV001822119] Chr10:71732376 [GRCh38]
Chr10:73492133 [GRCh37]
Chr10:10q22.1
likely pathogenic
NM_022124.6(CDH23):c.3347C>T (p.Pro1116Leu) single nucleotide variant not provided [RCV001971068] Chr10:71712791 [GRCh38]
Chr10:73472548 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_022124.6(CDH23):c.3295C>T (p.Arg1099Trp) single nucleotide variant not provided [RCV001985288] Chr10:71712739 [GRCh38]
Chr10:73472496 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_022124.6(CDH23):c.3566G>A (p.Arg1189Gln) single nucleotide variant not provided [RCV002041528] Chr10:71725507 [GRCh38]
Chr10:73485264 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_022124.6(CDH23):c.3371T>G (p.Leu1124Arg) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 12 [RCV001823224] Chr10:71724046 [GRCh38]
Chr10:73483803 [GRCh37]
Chr10:10q22.1
uncertain significance
GRCh37/hg19 10q21.3-22.3(chr10:68735254-78885714) copy number loss not specified [RCV002052875] Chr10:68735254..78885714 [GRCh37]
Chr10:10q21.3-22.3
pathogenic
NM_022124.6(CDH23):c.4206+16G>T single nucleotide variant not provided [RCV002049709] Chr10:71734357 [GRCh38]
Chr10:73494114 [GRCh37]
Chr10:10q22.1
likely benign|uncertain significance
NM_022124.6(CDH23):c.3972G>C (p.Glu1324Asp) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 12 [RCV001823249] Chr10:71732243 [GRCh38]
Chr10:73492000 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_022124.6(CDH23):c.3431-2A>G single nucleotide variant not provided [RCV002025577] Chr10:71725370 [GRCh38]
Chr10:73485127 [GRCh37]
Chr10:10q22.1
likely pathogenic
NM_022124.6(CDH23):c.4207-1G>C single nucleotide variant not provided [RCV002038416] Chr10:71734655 [GRCh38]
Chr10:73494412 [GRCh37]
Chr10:10q22.1
likely pathogenic
NM_022124.6(CDH23):c.3430+1G>A single nucleotide variant not provided [RCV001999349] Chr10:71724106 [GRCh38]
Chr10:73483863 [GRCh37]
Chr10:10q22.1
likely pathogenic
NM_022124.6(CDH23):c.3964A>G (p.Ile1322Val) single nucleotide variant not provided [RCV002011551] Chr10:71732235 [GRCh38]
Chr10:73491992 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_001164375.3(C10orf105):c.*3275T>A single nucleotide variant not provided [RCV001958563] Chr10:71712661 [GRCh38]
Chr10:73472418 [GRCh37]
Chr10:10q22.1
likely benign|uncertain significance
NC_000010.10:g.(?_73381150)_(73553170_?)del deletion not provided [RCV001963106] Chr10:73381150..73553170 [GRCh37]
Chr10:10q22.1
pathogenic
NM_022124.6(CDH23):c.3644G>A (p.Arg1215His) single nucleotide variant not provided [RCV001912093] Chr10:71730533 [GRCh38]
Chr10:73490290 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_022124.6(CDH23):c.4033C>G (p.Gln1345Glu) single nucleotide variant not provided [RCV001922616] Chr10:71732304 [GRCh38]
Chr10:73492061 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_022124.6(CDH23):c.3254C>T (p.Thr1085Ile) single nucleotide variant not provided [RCV001932279] Chr10:71712698 [GRCh38]
Chr10:73472455 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_022124.6(CDH23):c.3579+2T>C single nucleotide variant Autosomal recessive nonsyndromic hearing loss 12 [RCV003136378]|Pituitary adenoma 5, multiple types [RCV003475245]|Usher syndrome [RCV003230720]|not provided [RCV001956332] Chr10:71725522 [GRCh38]
Chr10:73485279 [GRCh37]
Chr10:10q22.1
pathogenic|likely pathogenic
NM_022124.6(CDH23):c.3713_3714del (p.Ser1238fs) microsatellite not provided [RCV001956298] Chr10:71730600..71730601 [GRCh38]
Chr10:73490357..73490358 [GRCh37]
Chr10:10q22.1
pathogenic
NM_022124.6(CDH23):c.3746T>C (p.Leu1249Pro) single nucleotide variant not provided [RCV001881263] Chr10:71732017 [GRCh38]
Chr10:73491774 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_022124.6(CDH23):c.3490C>T (p.Arg1164Trp) single nucleotide variant not provided [RCV001883205] Chr10:71725431 [GRCh38]
Chr10:73485188 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_022124.6(CDH23):c.3232G>C (p.Val1078Leu) single nucleotide variant not provided [RCV002031772] Chr10:71712676 [GRCh38]
Chr10:73472433 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_022124.6(CDH23):c.3375del (p.Ala1126fs) deletion not provided [RCV001890228] Chr10:71724048 [GRCh38]
Chr10:73483805 [GRCh37]
Chr10:10q22.1
pathogenic
NM_022124.6(CDH23):c.3997G>A (p.Val1333Met) single nucleotide variant not provided [RCV001976854] Chr10:71732268 [GRCh38]
Chr10:73492025 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_022124.6(CDH23):c.3296G>A (p.Arg1099Gln) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 12 [RCV002491893]|not provided [RCV001938365] Chr10:71712740 [GRCh38]
Chr10:73472497 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_022124.6(CDH23):c.3593T>C (p.Val1198Ala) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 12 [RCV002490284]|not provided [RCV001930636] Chr10:71730482 [GRCh38]
Chr10:73490239 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_022124.6(CDH23):c.3716-16_3716-15del microsatellite not provided [RCV001932325] Chr10:71731969..71731970 [GRCh38]
Chr10:73491726..73491727 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_022124.6(CDH23):c.3248C>G (p.Thr1083Arg) single nucleotide variant not provided [RCV002017328] Chr10:71712692 [GRCh38]
Chr10:73472449 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_022124.6(CDH23):c.3266T>C (p.Phe1089Ser) single nucleotide variant not provided [RCV001885551] Chr10:71712710 [GRCh38]
Chr10:73472467 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_022124.6(CDH23):c.3866C>T (p.Ala1289Val) single nucleotide variant not provided [RCV001902179] Chr10:71732137 [GRCh38]
Chr10:73491894 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_022124.6(CDH23):c.3983T>C (p.Leu1328Pro) single nucleotide variant Inborn genetic diseases [RCV003355577]|not provided [RCV001899869] Chr10:71732254 [GRCh38]
Chr10:73492011 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_022124.6(CDH23):c.3754G>A (p.Ala1252Thr) single nucleotide variant not provided [RCV001883749] Chr10:71732025 [GRCh38]
Chr10:73491782 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_022124.6(CDH23):c.3507G>C (p.Glu1169Asp) single nucleotide variant not provided [RCV001966941] Chr10:71725448 [GRCh38]
Chr10:73485205 [GRCh37]
Chr10:10q22.1
uncertain significance
NC_000010.10:g.(?_73490206)_(73768229_?)dup duplication not provided [RCV001955739] Chr10:73490206..73768229 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_022124.6(CDH23):c.3902T>A (p.Ile1301Asn) single nucleotide variant not provided [RCV001971268] Chr10:71732173 [GRCh38]
Chr10:73491930 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_022124.6(CDH23):c.4209+15G>C single nucleotide variant not provided [RCV002111435] Chr10:71734673 [GRCh38]
Chr10:73494430 [GRCh37]
Chr10:10q22.1
likely benign
NM_022124.6(CDH23):c.3370-19G>A single nucleotide variant not provided [RCV002080275] Chr10:71724026 [GRCh38]
Chr10:73483783 [GRCh37]
Chr10:10q22.1
likely benign
NM_022124.6(CDH23):c.3585T>C (p.Ile1195=) single nucleotide variant not provided [RCV002214666] Chr10:71730474 [GRCh38]
Chr10:73490231 [GRCh37]
Chr10:10q22.1
likely benign
NM_022124.6(CDH23):c.4104+15G>A single nucleotide variant not provided [RCV002132700] Chr10:71732390 [GRCh38]
Chr10:73492147 [GRCh37]
Chr10:10q22.1
likely benign
NM_022124.6(CDH23):c.3681A>C (p.Ser1227=) single nucleotide variant not provided [RCV002098701] Chr10:71730570 [GRCh38]
Chr10:73490327 [GRCh37]
Chr10:10q22.1
likely benign
NM_022124.6(CDH23):c.3579+13G>A single nucleotide variant not provided [RCV002220252] Chr10:71725533 [GRCh38]
Chr10:73485290 [GRCh37]
Chr10:10q22.1
likely benign
NM_022124.6(CDH23):c.3642C>T (p.Ser1214=) single nucleotide variant not provided [RCV002220715] Chr10:71730531 [GRCh38]
Chr10:73490288 [GRCh37]
Chr10:10q22.1
likely benign
NM_022124.6(CDH23):c.3930C>T (p.Ala1310=) single nucleotide variant not provided [RCV002219962] Chr10:71732201 [GRCh38]
Chr10:73491958 [GRCh37]
Chr10:10q22.1
likely benign
NM_022124.6(CDH23):c.3471G>C (p.Gly1157=) single nucleotide variant not provided [RCV002140148] Chr10:71725412 [GRCh38]
Chr10:73485169 [GRCh37]
Chr10:10q22.1
likely benign
NM_022124.6(CDH23):c.3745C>T (p.Leu1249=) single nucleotide variant not provided [RCV002109742] Chr10:71732016 [GRCh38]
Chr10:73491773 [GRCh37]
Chr10:10q22.1
likely benign
NM_022124.6(CDH23):c.4105-13C>T single nucleotide variant not provided [RCV002174411] Chr10:71734227 [GRCh38]
Chr10:73493984 [GRCh37]
Chr10:10q22.1
likely benign
NM_022124.6(CDH23):c.4104+11G>C single nucleotide variant not provided [RCV002186803] Chr10:71732386 [GRCh38]
Chr10:73492143 [GRCh37]
Chr10:10q22.1
likely benign
NM_022124.6(CDH23):c.4105-14C>A single nucleotide variant not provided [RCV002190343] Chr10:71734226 [GRCh38]
Chr10:73493983 [GRCh37]
Chr10:10q22.1
likely benign
NM_022124.6(CDH23):c.4047C>T (p.Arg1349=) single nucleotide variant not provided [RCV002146442] Chr10:71732318 [GRCh38]
Chr10:73492075 [GRCh37]
Chr10:10q22.1
likely benign
NM_022124.6(CDH23):c.4062C>A (p.Thr1354=) single nucleotide variant not provided [RCV002155182] Chr10:71732333 [GRCh38]
Chr10:73492090 [GRCh37]
Chr10:10q22.1
likely benign
NM_022124.6(CDH23):c.3390T>C (p.Asp1130=) single nucleotide variant not provided [RCV002095727] Chr10:71724065 [GRCh38]
Chr10:73483822 [GRCh37]
Chr10:10q22.1
likely benign
NM_022124.6(CDH23):c.4131G>A (p.Val1377=) single nucleotide variant not provided [RCV002219840] Chr10:71734266 [GRCh38]
Chr10:73494023 [GRCh37]
Chr10:10q22.1
likely benign
NM_022124.6(CDH23):c.3966C>T (p.Ile1322=) single nucleotide variant not provided [RCV002139048] Chr10:71732237 [GRCh38]
Chr10:73491994 [GRCh37]
Chr10:10q22.1
likely benign
NM_022124.6(CDH23):c.3852G>T (p.Ser1284=) single nucleotide variant not provided [RCV002152340] Chr10:71732123 [GRCh38]
Chr10:73491880 [GRCh37]
Chr10:10q22.1
likely benign
NM_022124.6(CDH23):c.3543C>T (p.Tyr1181=) single nucleotide variant not provided [RCV002156826] Chr10:71725484 [GRCh38]
Chr10:73485241 [GRCh37]
Chr10:10q22.1
likely benign
NM_022124.6(CDH23):c.3849G>T (p.Val1283=) single nucleotide variant not provided [RCV002167422] Chr10:71732120 [GRCh38]
Chr10:73491877 [GRCh37]
Chr10:10q22.1
likely benign
NM_022124.6(CDH23):c.3370-12A>G single nucleotide variant not provided [RCV002094330] Chr10:71724033 [GRCh38]
Chr10:73483790 [GRCh37]
Chr10:10q22.1
likely benign
NM_022124.6(CDH23):c.4207-4A>G single nucleotide variant not provided [RCV002072567] Chr10:71734652 [GRCh38]
Chr10:73494409 [GRCh37]
Chr10:10q22.1
likely benign
NM_022124.6(CDH23):c.3795C>T (p.Ile1265=) single nucleotide variant not provided [RCV002100151] Chr10:71732066 [GRCh38]
Chr10:73491823 [GRCh37]
Chr10:10q22.1
likely benign
NM_022124.6(CDH23):c.3715+9G>A single nucleotide variant not provided [RCV002193964] Chr10:71730613 [GRCh38]
Chr10:73490370 [GRCh37]
Chr10:10q22.1
likely benign
NM_022124.6(CDH23):c.3405G>T (p.Gly1135=) single nucleotide variant not provided [RCV002121829] Chr10:71724080 [GRCh38]
Chr10:73483837 [GRCh37]
Chr10:10q22.1
likely benign
NM_022124.6(CDH23):c.3999G>T (p.Val1333=) single nucleotide variant not provided [RCV002210084] Chr10:71732270 [GRCh38]
Chr10:73492027 [GRCh37]
Chr10:10q22.1
likely benign
NM_022124.6(CDH23):c.3579+15G>A single nucleotide variant not provided [RCV002130492] Chr10:71725535 [GRCh38]
Chr10:73485292 [GRCh37]
Chr10:10q22.1
likely benign
NM_022124.6(CDH23):c.4104+7G>C single nucleotide variant not provided [RCV002156275] Chr10:71732382 [GRCh38]
Chr10:73492139 [GRCh37]
Chr10:10q22.1
likely benign
NM_022124.6(CDH23):c.3921G>A (p.Leu1307=) single nucleotide variant not provided [RCV002176565] Chr10:71732192 [GRCh38]
Chr10:73491949 [GRCh37]
Chr10:10q22.1
likely benign
NM_022124.6(CDH23):c.3431-20G>C single nucleotide variant not provided [RCV002072438] Chr10:71725352 [GRCh38]
Chr10:73485109 [GRCh37]
Chr10:10q22.1
likely benign
NM_022124.6(CDH23):c.3370-5C>T single nucleotide variant not provided [RCV002200724] Chr10:71724040 [GRCh38]
Chr10:73483797 [GRCh37]
Chr10:10q22.1
likely benign
NM_022124.6(CDH23):c.4146C>G (p.Gly1382=) single nucleotide variant not provided [RCV002208317] Chr10:71734281 [GRCh38]
Chr10:73494038 [GRCh37]
Chr10:10q22.1
likely benign
NM_022124.6(CDH23):c.3444C>T (p.Asn1148=) single nucleotide variant not provided [RCV002160356] Chr10:71725385 [GRCh38]
Chr10:73485142 [GRCh37]
Chr10:10q22.1
likely benign
NM_022124.6(CDH23):c.3716-5T>C single nucleotide variant not provided [RCV002184395] Chr10:71731982 [GRCh38]
Chr10:73491739 [GRCh37]
Chr10:10q22.1
likely benign
NM_022124.6(CDH23):c.3370-15C>T single nucleotide variant not provided [RCV002213500] Chr10:71724030 [GRCh38]
Chr10:73483787 [GRCh37]
Chr10:10q22.1
likely benign
NM_022124.6(CDH23):c.4206+16G>A single nucleotide variant not provided [RCV002110539] Chr10:71734357 [GRCh38]
Chr10:73494114 [GRCh37]
Chr10:10q22.1
likely benign
NM_022124.6(CDH23):c.3261C>G (p.Thr1087=) single nucleotide variant not provided [RCV002175493] Chr10:71712705 [GRCh38]
Chr10:73472462 [GRCh37]
Chr10:10q22.1
likely benign
NM_022124.6(CDH23):c.3228C>A (p.Gly1076=) single nucleotide variant not provided [RCV002104020] Chr10:71712672 [GRCh38]
Chr10:73472429 [GRCh37]
Chr10:10q22.1
likely benign
NC_000010.10:g.(?_73464648)_(73768229_?)dup duplication not provided [RCV003111464] Chr10:73464648..73768229 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_022124.6(CDH23):c.3838A>C (p.Met1280Leu) single nucleotide variant not provided [RCV003115644] Chr10:71732109 [GRCh38]
Chr10:73491866 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_022124.6(CDH23):c.3608A>G (p.Asp1203Gly) single nucleotide variant not provided [RCV002275410] Chr10:71730497 [GRCh38]
Chr10:73490254 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_022124.6(CDH23):c.4138G>C (p.Glu1380Gln) single nucleotide variant not provided [RCV002296350] Chr10:71734273 [GRCh38]
Chr10:73494030 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_022124.6(CDH23):c.4025A>G (p.Asn1342Ser) single nucleotide variant not provided [RCV002285955] Chr10:71732296 [GRCh38]
Chr10:73492053 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_022124.6(CDH23):c.3388G>A (p.Asp1130Asn) single nucleotide variant not provided [RCV002296912] Chr10:71724063 [GRCh38]
Chr10:73483820 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_022124.6(CDH23):c.3362T>A (p.Ile1121Asn) single nucleotide variant not provided [RCV002302380] Chr10:71712806 [GRCh38]
Chr10:73472563 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_022124.6(CDH23):c.4068C>T (p.Thr1356=) single nucleotide variant not provided [RCV002971880] Chr10:71732339 [GRCh38]
Chr10:73492096 [GRCh37]
Chr10:10q22.1
likely benign
NM_022124.6(CDH23):c.3502C>T (p.Arg1168Trp) single nucleotide variant not provided [RCV002967766] Chr10:71725443 [GRCh38]
Chr10:73485200 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_022124.6(CDH23):c.4204G>A (p.Val1402Met) single nucleotide variant not provided [RCV003075278] Chr10:71734339 [GRCh38]
Chr10:73494096 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_022124.6(CDH23):c.3427C>T (p.His1143Tyr) single nucleotide variant not provided [RCV003033839] Chr10:71724102 [GRCh38]
Chr10:73483859 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_022124.6(CDH23):c.3451C>T (p.Arg1151Trp) single nucleotide variant not provided [RCV003076372] Chr10:71725392 [GRCh38]
Chr10:73485149 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_022124.6(CDH23):c.3418C>T (p.Arg1140Cys) single nucleotide variant not provided [RCV002996492] Chr10:71724093 [GRCh38]
Chr10:73483850 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_022124.6(CDH23):c.3579+14C>T single nucleotide variant not provided [RCV002786106] Chr10:71725534 [GRCh38]
Chr10:73485291 [GRCh37]
Chr10:10q22.1
likely benign
NM_022124.6(CDH23):c.3573C>A (p.Ser1191=) single nucleotide variant not provided [RCV003036379] Chr10:71725514 [GRCh38]
Chr10:73485271 [GRCh37]
Chr10:10q22.1
likely benign
NM_022124.6(CDH23):c.3226G>A (p.Gly1076Ser) single nucleotide variant not provided [RCV002636527] Chr10:71712670 [GRCh38]
Chr10:73472427 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_022124.6(CDH23):c.3690G>A (p.Val1230=) single nucleotide variant not provided [RCV003019558] Chr10:71730579 [GRCh38]
Chr10:73490336 [GRCh37]
Chr10:10q22.1
likely benign
NM_022124.6(CDH23):c.3534G>A (p.Val1178=) single nucleotide variant not provided [RCV003035305] Chr10:71725475 [GRCh38]
Chr10:73485232 [GRCh37]
Chr10:10q22.1
likely benign
NM_022124.6(CDH23):c.4109T>C (p.Val1370Ala) single nucleotide variant Inborn genetic diseases [RCV002887837] Chr10:71734244 [GRCh38]
Chr10:73494001 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_022124.6(CDH23):c.4137T>A (p.Arg1379=) single nucleotide variant not provided [RCV002658918] Chr10:71734272 [GRCh38]
Chr10:73494029 [GRCh37]
Chr10:10q22.1
likely benign
NM_022124.6(CDH23):c.3715+9G>T single nucleotide variant not provided [RCV002824908] Chr10:71730613 [GRCh38]
Chr10:73490370 [GRCh37]
Chr10:10q22.1
likely benign
NM_022124.6(CDH23):c.3643C>A (p.Arg1215Ser) single nucleotide variant not provided [RCV003080605] Chr10:71730532 [GRCh38]
Chr10:73490289 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_022124.6(CDH23):c.3979G>T (p.Ala1327Ser) single nucleotide variant Inborn genetic diseases [RCV002798887] Chr10:71732250 [GRCh38]
Chr10:73492007 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_022124.6(CDH23):c.4209+15G>A single nucleotide variant not provided [RCV002976407] Chr10:71734673 [GRCh38]
Chr10:73494430 [GRCh37]
Chr10:10q22.1
likely benign
NM_022124.6(CDH23):c.3462C>T (p.Val1154=) single nucleotide variant not provided [RCV002734962] Chr10:71725403 [GRCh38]
Chr10:73485160 [GRCh37]
Chr10:10q22.1
likely benign
NM_022124.6(CDH23):c.3944A>G (p.Asn1315Ser) single nucleotide variant not provided [RCV003085703] Chr10:71732215 [GRCh38]
Chr10:73491972 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_022124.6(CDH23):c.4001G>A (p.Arg1334Gln) single nucleotide variant not provided [RCV003058628] Chr10:71732272 [GRCh38]
Chr10:73492029 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_022124.6(CDH23):c.3597G>A (p.Glu1199=) single nucleotide variant not provided [RCV003084698] Chr10:71730486 [GRCh38]
Chr10:73490243 [GRCh37]
Chr10:10q22.1
likely benign
NM_022124.6(CDH23):c.3251G>A (p.Gly1084Asp) single nucleotide variant not provided [RCV002643517] Chr10:71712695 [GRCh38]
Chr10:73472452 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_022124.6(CDH23):c.4018A>G (p.Ile1340Val) single nucleotide variant Inborn genetic diseases [RCV003162009]|not provided [RCV002643618] Chr10:71732289 [GRCh38]
Chr10:73492046 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_022124.6(CDH23):c.3916G>A (p.Glu1306Lys) single nucleotide variant not provided [RCV003056481] Chr10:71732187 [GRCh38]
Chr10:73491944 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_022124.6(CDH23):c.4104+14G>A single nucleotide variant not provided [RCV002664143] Chr10:71732389 [GRCh38]
Chr10:73492146 [GRCh37]
Chr10:10q22.1
likely benign
NM_022124.6(CDH23):c.3579+10G>A single nucleotide variant not provided [RCV002805300] Chr10:71725530 [GRCh38]
Chr10:73485287 [GRCh37]
Chr10:10q22.1
likely benign
NM_022124.6(CDH23):c.3582G>A (p.Val1194=) single nucleotide variant not provided [RCV002791227] Chr10:71730471 [GRCh38]
Chr10:73490228 [GRCh37]
Chr10:10q22.1
likely benign
NM_022124.6(CDH23):c.3502C>A (p.Arg1168=) single nucleotide variant not provided [RCV002711200] Chr10:71725443 [GRCh38]
Chr10:73485200 [GRCh37]
Chr10:10q22.1
likely benign
NM_022124.6(CDH23):c.3955G>A (p.Glu1319Lys) single nucleotide variant not provided [RCV002928977] Chr10:71732226 [GRCh38]
Chr10:73491983 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_022124.6(CDH23):c.3460G>A (p.Val1154Ile) single nucleotide variant not provided [RCV002710819] Chr10:71725401 [GRCh38]
Chr10:73485158 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_022124.6(CDH23):c.4206+13A>G single nucleotide variant not provided [RCV003025553] Chr10:71734354 [GRCh38]
Chr10:73494111 [GRCh37]
Chr10:10q22.1
likely benign
NM_022124.6(CDH23):c.3670A>G (p.Ile1224Val) single nucleotide variant not provided [RCV002740536] Chr10:71730559 [GRCh38]
Chr10:73490316 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_022124.6(CDH23):c.3230C>G (p.Pro1077Arg) single nucleotide variant not provided [RCV003041659] Chr10:71712674 [GRCh38]
Chr10:73472431 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_022124.6(CDH23):c.4180G>A (p.Gly1394Ser) single nucleotide variant not provided [RCV003062273] Chr10:71734315 [GRCh38]
Chr10:73494072 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_022124.6(CDH23):c.3430+11C>T single nucleotide variant not provided [RCV003091308] Chr10:71724116 [GRCh38]
Chr10:73483873 [GRCh37]
Chr10:10q22.1
likely benign
NM_022124.6(CDH23):c.3762del (p.Lys1255fs) deletion not provided [RCV002856186] Chr10:71732030 [GRCh38]
Chr10:73491787 [GRCh37]
Chr10:10q22.1
pathogenic
NM_022124.6(CDH23):c.3948C>T (p.Ala1316=) single nucleotide variant not provided [RCV003009843] Chr10:71732219 [GRCh38]
Chr10:73491976 [GRCh37]
Chr10:10q22.1
likely benign
NM_022124.6(CDH23):c.3483A>G (p.Arg1161=) single nucleotide variant not provided [RCV003045749] Chr10:71725424 [GRCh38]
Chr10:73485181 [GRCh37]
Chr10:10q22.1
likely benign
NM_022124.6(CDH23):c.3740G>A (p.Arg1247His) single nucleotide variant not provided [RCV002628351] Chr10:71732011 [GRCh38]
Chr10:73491768 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_022124.6(CDH23):c.3862C>T (p.Gln1288Ter) single nucleotide variant Pituitary adenoma 5, multiple types [RCV003475492]|not provided [RCV003062272] Chr10:71732133 [GRCh38]
Chr10:73491890 [GRCh37]
Chr10:10q22.1
pathogenic
NM_022124.6(CDH23):c.3580-20C>G single nucleotide variant not provided [RCV002629857] Chr10:71730449 [GRCh38]
Chr10:73490206 [GRCh37]
Chr10:10q22.1
likely benign
NM_022124.6(CDH23):c.3912C>T (p.Leu1304=) single nucleotide variant not provided [RCV003043821] Chr10:71732183 [GRCh38]
Chr10:73491940 [GRCh37]
Chr10:10q22.1
likely benign
NM_022124.6(CDH23):c.3879C>T (p.Asn1293=) single nucleotide variant not provided [RCV002835046] Chr10:71732150 [GRCh38]
Chr10:73491907 [GRCh37]
Chr10:10q22.1
likely benign
NM_001164375.3(C10orf105):c.*3278G>C single nucleotide variant not provided [RCV002898783] Chr10:71712658 [GRCh38]
Chr10:73472415 [GRCh37]
Chr10:10q22.1
likely benign
NM_022124.6(CDH23):c.3715+13G>A single nucleotide variant not provided [RCV003064197] Chr10:71730617 [GRCh38]
Chr10:73490374 [GRCh37]
Chr10:10q22.1
likely benign
NM_022124.6(CDH23):c.3633G>T (p.Gln1211His) single nucleotide variant Inborn genetic diseases [RCV003269463]|not provided [RCV002579238] Chr10:71730522 [GRCh38]
Chr10:73490279 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_022124.6(CDH23):c.4206+3G>A single nucleotide variant not provided [RCV002676052] Chr10:71734344 [GRCh38]
Chr10:73494101 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_022124.6(CDH23):c.4072G>A (p.Ala1358Thr) single nucleotide variant not provided [RCV003091909] Chr10:71732343 [GRCh38]
Chr10:73492100 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_022124.6(CDH23):c.3353G>T (p.Gly1118Val) single nucleotide variant not provided [RCV003092201] Chr10:71712797 [GRCh38]
Chr10:73472554 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_022124.6(CDH23):c.3327C>T (p.Ala1109=) single nucleotide variant not provided [RCV002605353] Chr10:71712771 [GRCh38]
Chr10:73472528 [GRCh37]
Chr10:10q22.1
likely benign
NM_022124.6(CDH23):c.4105-10T>C single nucleotide variant not provided [RCV002814489] Chr10:71734230 [GRCh38]
Chr10:73493987 [GRCh37]
Chr10:10q22.1
likely benign
NM_022124.6(CDH23):c.3778G>A (p.Glu1260Lys) single nucleotide variant not provided [RCV003068989] Chr10:71732049 [GRCh38]
Chr10:73491806 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_022124.6(CDH23):c.3750G>A (p.Ser1250=) single nucleotide variant not provided [RCV003051063] Chr10:71732021 [GRCh38]
Chr10:73491778 [GRCh37]
Chr10:10q22.1
likely benign
NM_022124.6(CDH23):c.3471G>A (p.Gly1157=) single nucleotide variant not provided [RCV003073339] Chr10:71725412 [GRCh38]
Chr10:73485169 [GRCh37]
Chr10:10q22.1
likely benign
NM_022124.6(CDH23):c.4135C>T (p.Arg1379Cys) single nucleotide variant not provided [RCV002588419] Chr10:71734270 [GRCh38]
Chr10:73494027 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_022124.6(CDH23):c.3369+9_3369+31dup duplication not provided [RCV002586785] Chr10:71712812..71712813 [GRCh38]
Chr10:73472569..73472570 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_022124.6(CDH23):c.3509G>A (p.Arg1170Gln) single nucleotide variant not provided [RCV003066794] Chr10:71725450 [GRCh38]
Chr10:73485207 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_001164375.3(C10orf105):c.170C>T (p.Thr57Met) single nucleotide variant Inborn genetic diseases [RCV002678593] Chr10:71716168 [GRCh38]
Chr10:73475925 [GRCh37]
Chr10:10q22.1
likely benign
NM_022124.6(CDH23):c.3419G>A (p.Arg1140His) single nucleotide variant Inborn genetic diseases [RCV003197297] Chr10:71724094 [GRCh38]
Chr10:73483851 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_022124.6(CDH23):c.3484G>A (p.Gly1162Arg) single nucleotide variant not provided [RCV003144764] Chr10:71725425 [GRCh38]
Chr10:73485182 [GRCh37]
Chr10:10q22.1
uncertain significance
GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143) copy number loss Distal 10q deletion syndrome [RCV003319583] Chr10:12829206..135427143 [GRCh37]
Chr10:10p13-q26.3
pathogenic
GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143) copy number gain Distal trisomy 10q [RCV003319593] Chr10:11138692..135427143 [GRCh37]
Chr10:10p14-q26.3
pathogenic
NM_022124.6(CDH23):c.3796A>G (p.Ile1266Val) single nucleotide variant Inborn genetic diseases [RCV003364702] Chr10:71732067 [GRCh38]
Chr10:73491824 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_022124.6(CDH23):c.3720_3733del (p.Asp1240fs) deletion Pituitary adenoma 5, multiple types [RCV003474534] Chr10:71731989..71732002 [GRCh38]
Chr10:73491746..73491759 [GRCh37]
Chr10:10q22.1
likely pathogenic
NM_022124.6(CDH23):c.3430+19G>T single nucleotide variant not provided [RCV003726067] Chr10:71724124 [GRCh38]
Chr10:73483881 [GRCh37]
Chr10:10q22.1
likely benign
NM_022124.6(CDH23):c.4209+1G>A single nucleotide variant not provided [RCV003710691] Chr10:71734659 [GRCh38]
Chr10:73494416 [GRCh37]
Chr10:10q22.1
likely pathogenic
NM_022124.6(CDH23):c.4206+12C>G single nucleotide variant not provided [RCV003712892] Chr10:71734353 [GRCh38]
Chr10:73494110 [GRCh37]
Chr10:10q22.1
likely benign
NM_022124.6(CDH23):c.3716-10C>G single nucleotide variant not provided [RCV003663329] Chr10:71731977 [GRCh38]
Chr10:73491734 [GRCh37]
Chr10:10q22.1
likely benign
NM_022124.6(CDH23):c.3474C>T (p.Leu1158=) single nucleotide variant not provided [RCV003733465] Chr10:71725415 [GRCh38]
Chr10:73485172 [GRCh37]
Chr10:10q22.1
likely benign
NM_022124.6(CDH23):c.3716-4A>C single nucleotide variant not provided [RCV003734656] Chr10:71731983 [GRCh38]
Chr10:73491740 [GRCh37]
Chr10:10q22.1
likely benign
NM_022124.6(CDH23):c.3370-9C>T single nucleotide variant not provided [RCV003670486] Chr10:71724036 [GRCh38]
Chr10:73483793 [GRCh37]
Chr10:10q22.1
likely benign
NM_022124.6(CDH23):c.3715+10G>T single nucleotide variant not provided [RCV003671707] Chr10:71730614 [GRCh38]
Chr10:73490371 [GRCh37]
Chr10:10q22.1
likely benign
NM_022124.6(CDH23):c.3580-4A>G single nucleotide variant not provided [RCV003734876] Chr10:71730465 [GRCh38]
Chr10:73490222 [GRCh37]
Chr10:10q22.1
likely benign
NM_022124.6(CDH23):c.3370-18T>C single nucleotide variant not provided [RCV003735708] Chr10:71724027 [GRCh38]
Chr10:73483784 [GRCh37]
Chr10:10q22.1
likely benign
NM_022124.6(CDH23):c.4164A>G (p.Thr1388=) single nucleotide variant not provided [RCV003686518] Chr10:71734299 [GRCh38]
Chr10:73494056 [GRCh37]
Chr10:10q22.1
likely benign
NM_022124.6(CDH23):c.4206+14_4206+40del deletion not provided [RCV003681932] Chr10:71734352..71734378 [GRCh38]
Chr10:73494109..73494135 [GRCh37]
Chr10:10q22.1
likely benign
NM_022124.6(CDH23):c.4194G>T (p.Val1398=) single nucleotide variant not provided [RCV003688060] Chr10:71734329 [GRCh38]
Chr10:73494086 [GRCh37]
Chr10:10q22.1
likely benign
NM_022124.6(CDH23):c.3579+19T>C single nucleotide variant not provided [RCV003695536] Chr10:71725539 [GRCh38]
Chr10:73485296 [GRCh37]
Chr10:10q22.1
likely benign
NM_022124.6(CDH23):c.3431-18G>T single nucleotide variant not provided [RCV003671545] Chr10:71725354 [GRCh38]
Chr10:73485111 [GRCh37]
Chr10:10q22.1
likely benign
NM_022124.6(CDH23):c.3561C>T (p.Pro1187=) single nucleotide variant not provided [RCV003690336] Chr10:71725502 [GRCh38]
Chr10:73485259 [GRCh37]
Chr10:10q22.1
likely benign
NM_022124.6(CDH23):c.4104+17A>G single nucleotide variant not provided [RCV003692696] Chr10:71732392 [GRCh38]
Chr10:73492149 [GRCh37]
Chr10:10q22.1
likely benign
NM_022124.6(CDH23):c.3855C>T (p.Ala1285=) single nucleotide variant not provided [RCV003692724] Chr10:71732126 [GRCh38]
Chr10:73491883 [GRCh37]
Chr10:10q22.1
likely benign
NM_022124.6(CDH23):c.3413G>A (p.Trp1138Ter) single nucleotide variant not provided [RCV003693313] Chr10:71724088 [GRCh38]
Chr10:73483845 [GRCh37]
Chr10:10q22.1
pathogenic
NM_022124.6(CDH23):c.3950dup (p.Tyr1318fs) duplication not provided [RCV003694517] Chr10:71732220..71732221 [GRCh38]
Chr10:73491977..73491978 [GRCh37]
Chr10:10q22.1
pathogenic
NM_022124.6(CDH23):c.3370-20C>T single nucleotide variant not provided [RCV003731342] Chr10:71724025 [GRCh38]
Chr10:73483782 [GRCh37]
Chr10:10q22.1
likely benign
NM_022124.6(CDH23):c.3431-15T>C single nucleotide variant not provided [RCV003677687] Chr10:71725357 [GRCh38]
Chr10:73485114 [GRCh37]
Chr10:10q22.1
likely benign
NM_022124.6(CDH23):c.3579+20G>C single nucleotide variant not provided [RCV003678232] Chr10:71725540 [GRCh38]
Chr10:73485297 [GRCh37]
Chr10:10q22.1
likely benign
NM_022124.6(CDH23):c.4101C>T (p.Ile1367=) single nucleotide variant not provided [RCV003701241] Chr10:71732372 [GRCh38]
Chr10:73492129 [GRCh37]
Chr10:10q22.1
likely benign
NM_022124.6(CDH23):c.3897C>T (p.Val1299=) single nucleotide variant not provided [RCV003701441] Chr10:71732168 [GRCh38]
Chr10:73491925 [GRCh37]
Chr10:10q22.1
likely benign
NM_022124.6(CDH23):c.3539C>G (p.Ala1180Gly) single nucleotide variant not provided [RCV003703306] Chr10:71725480 [GRCh38]
Chr10:73485237 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_022124.6(CDH23):c.4173A>G (p.Ala1391=) single nucleotide variant not provided [RCV003707560] Chr10:71734308 [GRCh38]
Chr10:73494065 [GRCh37]
Chr10:10q22.1
likely benign
NM_022124.6(CDH23):c.4195G>A (p.Asp1399Asn) single nucleotide variant Pituitary adenoma 5, multiple types [RCV003474478] Chr10:71734330 [GRCh38]
Chr10:73494087 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_022124.6(CDH23):c.4101_4104+3del deletion Pituitary adenoma 5, multiple types [RCV003474527] Chr10:71732372..71732378 [GRCh38]
Chr10:73492129..73492135 [GRCh37]
Chr10:10q22.1
likely pathogenic
NM_022124.6(CDH23):c.3580-17T>C single nucleotide variant not provided [RCV003872706] Chr10:71730452 [GRCh38]
Chr10:73490209 [GRCh37]
Chr10:10q22.1
likely benign
NM_022124.6(CDH23):c.4207-2A>G single nucleotide variant Pituitary adenoma 5, multiple types [RCV003474529] Chr10:71734654 [GRCh38]
Chr10:73494411 [GRCh37]
Chr10:10q22.1
likely pathogenic
NM_022124.6(CDH23):c.3769G>T (p.Glu1257Ter) single nucleotide variant Pituitary adenoma 5, multiple types [RCV003474536] Chr10:71732040 [GRCh38]
Chr10:73491797 [GRCh37]
Chr10:10q22.1
pathogenic|likely pathogenic
GRCh37/hg19 10q11.21-24.2(chr10:42709645-100834951)x3 copy number gain not provided [RCV003484798] Chr10:42709645..100834951 [GRCh37]
Chr10:10q11.21-24.2
pathogenic
GRCh37/hg19 10q22.1(chr10:73321269-74612651)x1 copy number loss not provided [RCV003483098] Chr10:73321269..74612651 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_022124.6(CDH23):c.3486dup (p.Pro1163fs) duplication Pituitary adenoma 5, multiple types [RCV003474505] Chr10:71725424..71725425 [GRCh38]
Chr10:73485181..73485182 [GRCh37]
Chr10:10q22.1
likely pathogenic
NM_022124.6(CDH23):c.3292_3295dup (p.Arg1099fs) duplication Pituitary adenoma 5, multiple types [RCV003474480] Chr10:71712734..71712735 [GRCh38]
Chr10:73472491..73472492 [GRCh37]
Chr10:10q22.1
likely pathogenic
NM_022124.6(CDH23):c.3591C>A (p.Tyr1197Ter) single nucleotide variant Pituitary adenoma 5, multiple types [RCV003474487] Chr10:71730480 [GRCh38]
Chr10:73490237 [GRCh37]
Chr10:10q22.1
likely pathogenic
NM_022124.6(CDH23):c.3397G>T (p.Glu1133Ter) single nucleotide variant Pituitary adenoma 5, multiple types [RCV003474544] Chr10:71724072 [GRCh38]
Chr10:73483829 [GRCh37]
Chr10:10q22.1
likely pathogenic
NM_022124.6(CDH23):c.3634C>T (p.Gln1212Ter) single nucleotide variant Pituitary adenoma 5, multiple types [RCV003474539] Chr10:71730523 [GRCh38]
Chr10:73490280 [GRCh37]
Chr10:10q22.1
likely pathogenic
NM_001164375.3(C10orf105):c.*490C>T single nucleotide variant not provided [RCV003417485] Chr10:71715446 [GRCh38]
Chr10:73475203 [GRCh37]
Chr10:10q22.1
likely benign
NM_001164375.3(C10orf105):c.78C>T (p.Pro26=) single nucleotide variant not provided [RCV003417486] Chr10:71716260 [GRCh38]
Chr10:73476017 [GRCh37]
Chr10:10q22.1
likely benign
NM_022124.6(CDH23):c.4104+17A>C single nucleotide variant not provided [RCV003551981] Chr10:71732392 [GRCh38]
Chr10:73492149 [GRCh37]
Chr10:10q22.1
likely benign
NM_022124.6(CDH23):c.3431-19G>T single nucleotide variant not provided [RCV003567165] Chr10:71725353 [GRCh38]
Chr10:73485110 [GRCh37]
Chr10:10q22.1
likely benign
NM_022124.6(CDH23):c.3801C>G (p.Thr1267=) single nucleotide variant not provided [RCV003566560] Chr10:71732072 [GRCh38]
Chr10:73491829 [GRCh37]
Chr10:10q22.1
likely benign
NM_022124.6(CDH23):c.3579+13G>T single nucleotide variant not provided [RCV003572993] Chr10:71725533 [GRCh38]
Chr10:73485290 [GRCh37]
Chr10:10q22.1
likely benign
NM_022124.6(CDH23):c.3462C>A (p.Val1154=) single nucleotide variant not provided [RCV003574604] Chr10:71725403 [GRCh38]
Chr10:73485160 [GRCh37]
Chr10:10q22.1
likely benign
NM_022124.6(CDH23):c.3430+9G>A single nucleotide variant not provided [RCV003575723] Chr10:71724114 [GRCh38]
Chr10:73483871 [GRCh37]
Chr10:10q22.1
likely benign
NM_022124.6(CDH23):c.4207-14G>C single nucleotide variant not provided [RCV003878646] Chr10:71734642 [GRCh38]
Chr10:73494399 [GRCh37]
Chr10:10q22.1
likely benign
NM_022124.6(CDH23):c.3822G>A (p.Glu1274=) single nucleotide variant not provided [RCV003544724] Chr10:71732093 [GRCh38]
Chr10:73491850 [GRCh37]
Chr10:10q22.1
likely benign
NM_022124.6(CDH23):c.3888C>T (p.Phe1296=) single nucleotide variant not provided [RCV003551965] Chr10:71732159 [GRCh38]
Chr10:73491916 [GRCh37]
Chr10:10q22.1
likely benign
NM_022124.6(CDH23):c.3615C>T (p.Ala1205=) single nucleotide variant not provided [RCV003877233] Chr10:71730504 [GRCh38]
Chr10:73490261 [GRCh37]
Chr10:10q22.1
likely benign
NM_022124.6(CDH23):c.3430+20G>T single nucleotide variant not provided [RCV003557033] Chr10:71724125 [GRCh38]
Chr10:73483882 [GRCh37]
Chr10:10q22.1
likely benign
NM_001164375.3(C10orf105):c.*3291A>T single nucleotide variant not provided [RCV003663464] Chr10:71712645 [GRCh38]
Chr10:73472402 [GRCh37]
Chr10:10q22.1
likely benign
NM_022124.6(CDH23):c.3715+16G>A single nucleotide variant not provided [RCV003575887] Chr10:71730620 [GRCh38]
Chr10:73490377 [GRCh37]
Chr10:10q22.1
likely benign
NM_022124.6(CDH23):c.3481C>A (p.Arg1161=) single nucleotide variant not provided [RCV003576292] Chr10:71725422 [GRCh38]
Chr10:73485179 [GRCh37]
Chr10:10q22.1
likely benign
NM_022124.6(CDH23):c.3834C>T (p.Ser1278=) single nucleotide variant not provided [RCV003579189] Chr10:71732105 [GRCh38]
Chr10:73491862 [GRCh37]
Chr10:10q22.1
likely benign
NM_022124.6(CDH23):c.3715+17G>A single nucleotide variant not provided [RCV003549171] Chr10:71730621 [GRCh38]
Chr10:73490378 [GRCh37]
Chr10:10q22.1
likely benign
NM_022124.6(CDH23):c.3430+2T>C single nucleotide variant not provided [RCV003545395] Chr10:71724107 [GRCh38]
Chr10:73483864 [GRCh37]
Chr10:10q22.1
likely pathogenic
NM_022124.6(CDH23):c.3431-20G>T single nucleotide variant not provided [RCV003557411] Chr10:71725352 [GRCh38]
Chr10:73485109 [GRCh37]
Chr10:10q22.1
likely benign
NM_022124.6(CDH23):c.3715+1G>A single nucleotide variant not provided [RCV003561557] Chr10:71730605 [GRCh38]
Chr10:73490362 [GRCh37]
Chr10:10q22.1
likely pathogenic
NM_022124.6(CDH23):c.3243A>C (p.Arg1081=) single nucleotide variant not provided [RCV003690176] Chr10:71712687 [GRCh38]
Chr10:73472444 [GRCh37]
Chr10:10q22.1
likely benign
NM_022124.6(CDH23):c.3541_3559del (p.Tyr1181fs) deletion not provided [RCV003565166] Chr10:71725478..71725496 [GRCh38]
Chr10:73485235..73485253 [GRCh37]
Chr10:10q22.1
pathogenic
NM_022124.6(CDH23):c.3828G>A (p.Lys1276=) single nucleotide variant not provided [RCV003574497] Chr10:71732099 [GRCh38]
Chr10:73491856 [GRCh37]
Chr10:10q22.1
likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:5057
Count of miRNA genes:1038
Interacting mature miRNAs:1299
Transcripts:ENST00000398786, ENST00000441508
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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

Markers in Region
STS-N39237  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371073,471,562 - 73,471,687UniSTSGRCh37
Build 361073,141,568 - 73,141,693RGDNCBI36
Celera1066,754,001 - 66,754,126RGD
Cytogenetic Map10q22.1UniSTS
HuRef1067,465,392 - 67,465,517UniSTS
GeneMap99-GB4 RH Map10370.67UniSTS
NCBI RH Map10900.9UniSTS


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 adipose tissue appendage entire extraembryonic component
High
Medium 300 336 2 485 11 1 2
Low 260 1034 110 5 738 4 1980 109 2484 10 664 538 3 555 1261
Below cutoff 1859 1534 1306 469 355 317 2013 1722 652 168 590 726 155 634 1275 1

Sequence


RefSeq Acc Id: ENST00000398786   ⟹   ENSP00000381766
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1071,711,710 - 71,737,824 (-)Ensembl
RefSeq Acc Id: ENST00000441508   ⟹   ENSP00000403151
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1071,711,701 - 71,719,778 (-)Ensembl
RefSeq Acc Id: NM_001164375   ⟹   NP_001157847
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381071,711,701 - 71,719,778 (-)NCBI
GRCh371073,471,458 - 73,497,581 (-)RGD
Celera1066,753,897 - 66,780,020 (-)RGD
HuRef1067,465,288 - 67,491,413 (-)ENTREZGENE
CHM1_11073,753,589 - 73,761,710 (-)NCBI
T2T-CHM13v2.01072,582,515 - 72,590,592 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001168390   ⟹   NP_001161862
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381071,711,701 - 71,737,850 (-)NCBI
GRCh371073,471,458 - 73,497,581 (-)RGD
Celera1066,753,897 - 66,780,020 (-)RGD
HuRef1067,465,288 - 67,491,413 (-)ENTREZGENE
CHM1_11073,753,589 - 73,779,713 (-)NCBI
T2T-CHM13v2.01072,582,515 - 72,608,664 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001157847 (Get FASTA)   NCBI Sequence Viewer  
  NP_001161862 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein BAB84998 (Get FASTA)   NCBI Sequence Viewer  
  EAW54433 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000381766
  ENSP00000381766.3
  ENSP00000403151
  ENSP00000403151.2
GenBank Protein Q8TEF2 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_001161862   ⟸   NM_001168390
- UniProtKB: Q8TEF2 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001157847   ⟸   NM_001164375
- UniProtKB: Q8TEF2 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000381766   ⟸   ENST00000398786
RefSeq Acc Id: ENSP00000403151   ⟸   ENST00000441508

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q8TEF2-F1-model_v2 AlphaFold Q8TEF2 1-133 view protein structure

Promoters
RGD ID:7217787
Promoter ID:EPDNEW_H14639
Type:initiation region
Name:C10orf105_1
Description:chromosome 10 open reading frame 105
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H14640  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381071,719,778 - 71,719,838EPDNEW
RGD ID:7217789
Promoter ID:EPDNEW_H14640
Type:initiation region
Name:C10orf105_2
Description:chromosome 10 open reading frame 105
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H14639  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381071,737,768 - 71,737,828EPDNEW
RGD ID:6787387
Promoter ID:HG_KWN:9960
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell
Transcripts:NM_001168390
Position:
Human AssemblyChrPosition (strand)Source
Build 361073,167,136 - 73,167,837 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:20304 AgrOrtholog
COSMIC C10orf105 COSMIC
Ensembl Genes ENSG00000214688 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000398786 ENTREZGENE
  ENST00000398786.2 UniProtKB/Swiss-Prot
  ENST00000441508 ENTREZGENE
  ENST00000441508.4 UniProtKB/Swiss-Prot
GTEx ENSG00000214688 GTEx
HGNC ID HGNC:20304 ENTREZGENE
Human Proteome Map C10orf105 Human Proteome Map
InterPro DUF5527 UniProtKB/Swiss-Prot
KEGG Report hsa:414152 UniProtKB/Swiss-Prot
NCBI Gene 414152 ENTREZGENE
PANTHER GENE, 17455-RELATED UniProtKB/Swiss-Prot
  PTHR38325 UniProtKB/Swiss-Prot
Pfam DUF5527 UniProtKB/Swiss-Prot
PharmGKB PA134923659 PharmGKB
UniProt CJ105_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE