TTC21B (tetratricopeptide repeat domain 21B) - Rat Genome Database

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Gene: TTC21B (tetratricopeptide repeat domain 21B) Homo sapiens
Analyze
Symbol: TTC21B
Name: tetratricopeptide repeat domain 21B
RGD ID: 1344161
HGNC Page HGNC
Description: Predicted to enable chromatin binding activity. Involved in regulation of intraciliary retrograde transport. Acts upstream of or within protein localization to cilium and regulation of transcription by RNA polymerase II. Part of intraciliary transport particle A. Implicated in asphyxiating thoracic dystrophy 4 and nephronophthisis 12.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: ATD4; FAP60; FLA17; FLJ11457; IFT139; IFT139B; intraflagellar transport 139 homolog; JBTS11; Nbla10696; NPHP12; putative protein product of Nbla10696; SRTD4; tetratricopeptide repeat protein 21B; THM1; TPR repeat protein 21B
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl2165,857,475 - 165,953,851 (-)EnsemblGRCh38hg38GRCh38
GRCh382165,873,362 - 165,953,781 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh372166,729,872 - 166,810,286 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362166,438,699 - 166,518,594 (-)NCBINCBI36hg18NCBI36
Build 342166,556,350 - 166,635,855NCBI
Celera2160,340,419 - 160,420,342 (-)NCBI
Cytogenetic Map2q24.3NCBI
HuRef2158,611,801 - 158,691,750 (-)NCBIHuRef
CHM1_12166,736,157 - 166,816,658 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


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

Additional References at PubMed
PMID:12056414   PMID:14702039   PMID:16344560   PMID:19490893   PMID:20301500   PMID:20301743   PMID:20889716   PMID:21068128   PMID:21258341   PMID:21873635   PMID:22302990   PMID:24876116  
PMID:25798074   PMID:26186194   PMID:26925547   PMID:26940125   PMID:27173435   PMID:27336129   PMID:27932497   PMID:28124483   PMID:28514442   PMID:28611215   PMID:29220510   PMID:29507755  
PMID:31091453   PMID:33187986   PMID:33547761  


Genomics

Comparative Map Data
TTC21B
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl2165,857,475 - 165,953,851 (-)EnsemblGRCh38hg38GRCh38
GRCh382165,873,362 - 165,953,781 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh372166,729,872 - 166,810,286 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362166,438,699 - 166,518,594 (-)NCBINCBI36hg18NCBI36
Build 342166,556,350 - 166,635,855NCBI
Celera2160,340,419 - 160,420,342 (-)NCBI
Cytogenetic Map2q24.3NCBI
HuRef2158,611,801 - 158,691,750 (-)NCBIHuRef
CHM1_12166,736,157 - 166,816,658 (-)NCBICHM1_1
Ttc21b
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39266,014,131 - 66,087,144 (-)NCBIGRCm39mm39
GRCm39 Ensembl266,014,671 - 66,086,961 (-)Ensembl
GRCm38266,183,787 - 66,256,674 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl266,184,327 - 66,256,617 (-)EnsemblGRCm38mm10GRCm38
MGSCv37266,022,386 - 66,094,674 (-)NCBIGRCm37mm9NCBIm37
MGSCv36265,985,166 - 66,057,456 (-)NCBImm8
Celera267,863,470 - 67,935,886 (-)NCBICelera
Cytogenetic Map2C1.3NCBI
Ttc21b
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2350,861,367 - 50,935,782 (-)NCBImRatBN7.2
mRatBN7.2 Ensembl350,861,367 - 50,935,903 (-)Ensembl
Rnor_6.0352,286,794 - 52,361,060 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl352,286,794 - 52,361,060 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0358,917,760 - 58,990,221 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Rnor_5.0357,297,234 - 57,298,391 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4348,147,053 - 48,222,257 (-)NCBIRGSC3.4rn4RGSC3.4
Celera350,451,676 - 50,523,656 (-)NCBICelera
Cytogenetic Map3q21NCBI
Ttc21b
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554498,241,990 - 8,308,562 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554498,242,327 - 8,306,012 (+)NCBIChiLan1.0ChiLan1.0
TTC21B
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.12B170,618,800 - 170,698,903 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2B170,616,444 - 170,699,471 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v02B53,140,199 - 53,220,535 (-)NCBIMhudiblu_PPA_v0panPan3
TTC21B
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13611,009,362 - 11,086,586 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl3611,010,296 - 11,086,674 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3611,153,712 - 11,231,392 (-)NCBI
ROS_Cfam_1.03611,143,221 - 11,221,003 (-)NCBI
UMICH_Zoey_3.13611,225,004 - 11,302,809 (-)NCBI
UNSW_CanFamBas_1.03611,197,039 - 11,275,277 (-)NCBI
UU_Cfam_GSD_1.03611,309,967 - 11,387,866 (-)NCBI
Ttc21b
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405303128,163,380 - 128,252,674 (-)NCBI
SpeTri2.0NW_00493646913,365,168 - 13,454,340 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
TTC21B
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1572,430,725 - 72,512,491 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11572,430,250 - 72,512,503 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21580,879,935 - 80,937,009 (-)NCBISscrofa10.2Sscrofa10.2susScr3
TTC21B
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11051,365,156 - 51,449,207 (-)NCBIChlSab1.1chlSab2
ChlSab1.1 Ensembl1051,364,889 - 51,449,183 (-)EnsemblChlSab1.1chlSab2
Vero_WHO_p1.0NW_023666040148,071,343 - 148,153,777 (+)NCBIVero_WHO_p1.0
Ttc21b
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247873,685,700 - 3,745,018 (-)NCBIHetGla_female_1.0hetGla2

Position Markers
STS-AA034916  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372166,730,941 - 166,731,190UniSTSGRCh37
Build 362166,439,187 - 166,439,436RGDNCBI36
Celera2160,340,907 - 160,341,156RGD
Cytogenetic Map2q24.3UniSTS
HuRef2158,612,870 - 158,613,119UniSTS
NCBI RH Map21249.7UniSTS
RH118796  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372166,767,686 - 166,768,017UniSTSGRCh37
Build 362166,475,932 - 166,476,263RGDNCBI36
Celera2160,377,659 - 160,377,990RGD
Cytogenetic Map2q24.3UniSTS
HuRef2158,649,622 - 158,649,953UniSTS
RH16316  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372166,714,726 - 166,714,866UniSTSGRCh37
Build 362166,422,972 - 166,423,112RGDNCBI36
Celera2160,324,690 - 160,324,830RGD
HuRef2158,596,652 - 158,596,792UniSTS
GeneMap99-GB4 RH Map2544.47UniSTS
D1S1423  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map10p12.1-p11.2UniSTS
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map7p15.2UniSTS
Cytogenetic Map6p21UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map6p22.3-p21.32UniSTS
Cytogenetic Map6q22.33UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map22q11.22UniSTS
Cytogenetic Map11q13.2-q13.3UniSTS
Cytogenetic Map3q22-q24UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map7q11.2UniSTS
Cytogenetic Map1p22.1UniSTS
Cytogenetic Map2q32UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map9q12UniSTS
Cytogenetic Map3q26.2UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map10q23-q24UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map2p12UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map18q22.1UniSTS
Cytogenetic Map13q12UniSTS
Cytogenetic Map10p14-p13UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map11q23-q24UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map11q25UniSTS
Cytogenetic Map22cen-q12.3UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map15q11.2-q21.3UniSTS
Cytogenetic Map1p21.2UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map7q31.1UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map3q25UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map14q31.1UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map6p12.1UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map10p15.1UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map12p13.32UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map2q14UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map1p36.1UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic MapXq26.3UniSTS
Cytogenetic Map8q24.11UniSTS
Cytogenetic Map9q22.31UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map4q28UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map1q41-q42UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map20q11.21UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map12p13.1-p12.3UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map1p13.1UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map7q33UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map4q23UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map10q26.11UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map11q24.1UniSTS
Cytogenetic Map18q23UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map18p11.31UniSTS
Cytogenetic Map2q24.3UniSTS
Cytogenetic Map11q23UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map12q23.2UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map16q12.2UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map18p11.31-p11.21UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map3q13UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map7p21.2UniSTS
Cytogenetic Map12q21.1UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic Map1q42.1UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map1p34-p33UniSTS
Cytogenetic Map3q22.1UniSTS
Cytogenetic Map7p14UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map12q24.2UniSTS
Cytogenetic Map20q13UniSTS
Cytogenetic Map19q13.3-q13.4UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map8p23-p22UniSTS
Cytogenetic Map1p12UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic Map10p12.33UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map3q26UniSTS
Cytogenetic Map9p21.2UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map5q21.3UniSTS
Cytogenetic Map1p36.22UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map3q26.31UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map17q24.1UniSTS
Cytogenetic Map9q21.11UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map5p13.3UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map10q22.1UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic MapXp22UniSTS
Cytogenetic Map20p12.3-p11.21UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic MapXq27.2UniSTS
Cytogenetic Map4q31.1UniSTS
Cytogenetic Map4q31UniSTS
Cytogenetic Map22q13.1-q13.2UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map10q24.3UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map2p13UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map11q22.1UniSTS
Cytogenetic Map12q14.2UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map20q11.21-q11.23UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map21p11.1UniSTS
Cytogenetic Map1p35-p34.3UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map12q24.31-q24.32UniSTS
Cytogenetic Map17q21.1UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map14q32.1UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map4q31.23UniSTS
Cytogenetic Map11p15.3UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map2p22.3UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map11q14UniSTS
Cytogenetic MapXq13.2UniSTS
Cytogenetic Map16p13.12UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map9p12UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map15q15.2UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map13q33.3UniSTS
Cytogenetic Map15q22-q24UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map14q21.2UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map15q23UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map4p15.31UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map20q13.1UniSTS
Cytogenetic Map15q21.3UniSTS
Cytogenetic Map10q23.33UniSTS
Cytogenetic Map4q26UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map15q22.1-q22.31UniSTS
Cytogenetic Map1q31-q41UniSTS
Cytogenetic Map6q23.3UniSTS
Cytogenetic Map7q21.2UniSTS
Cytogenetic Map14q23UniSTS
Cytogenetic Map12q11-q12UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map4q24UniSTS
Cytogenetic Map1p32UniSTS
Cytogenetic Map3p21.1-p14.2UniSTS
Cytogenetic Map12q22-q23.1UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map6q24.2UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map6p24.1UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map20q11.22-q11.23UniSTS
Cytogenetic Map3p22.3UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic MapXq13-q21UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map16p13.13UniSTS
Cytogenetic Map10pter-q25.3UniSTS
Cytogenetic Map9p24.1UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map12q24UniSTS
Cytogenetic Map3q28-q29UniSTS
Cytogenetic Map10q26UniSTS
Cytogenetic Map6p22.2UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map12q24.2-q24.31UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map1q32.2-q41UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map22q11UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map16p13.11UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map9p21UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map11q13.1-q13.3UniSTS
Cytogenetic Map16p13UniSTS
Cytogenetic Map15q26UniSTS
Cytogenetic Map18q21UniSTS
Cytogenetic Map4p15.1-p14UniSTS
Cytogenetic Map8q11.2UniSTS
Cytogenetic Map16q22UniSTS
Cytogenetic Map15q11-q13UniSTS
Cytogenetic Map7p12.3UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic MapXp22.12UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map14q32.2UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map22q11.1UniSTS
Cytogenetic Map5q33.2UniSTS
Cytogenetic Map14q23.1UniSTS
Cytogenetic Map7q32.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map10q26.13UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map15q25.1UniSTS
Cytogenetic Map9p13UniSTS
Cytogenetic Map2p24.2UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map11q12.2UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map1q25.3UniSTS
Cytogenetic Map6p24-p22.3UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map3q21-q24UniSTS
Cytogenetic Map4q13UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map5q21.2UniSTS
Cytogenetic Map4q34.3UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map15q14UniSTS
Cytogenetic Map13q13.3UniSTS
Cytogenetic Map12q13.2UniSTS
Cytogenetic Map1q31UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic MapXp11.4UniSTS
Cytogenetic Map8q24.12UniSTS
Cytogenetic Map15q22UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map13q11-q12UniSTS
Cytogenetic Map10q24.2UniSTS
Cytogenetic Map15q21.1UniSTS
Cytogenetic Map15q13.2UniSTS
Cytogenetic Map6q25.2UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map6q14.1UniSTS
Cytogenetic Map3q23-q24UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map6q16.1UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map20pter-p12UniSTS
Cytogenetic MapXp22.11UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map16q22.3UniSTS
Cytogenetic Map7q31.3UniSTS
Cytogenetic Map21q22.13UniSTS
Cytogenetic Map1p21UniSTS
Cytogenetic Map8p11UniSTS
Cytogenetic Map7p14.2UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map18p11.22UniSTS
Cytogenetic Map18q21.33UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map14q22.2UniSTS
Cytogenetic Map20p11.22-p11.1UniSTS
Cytogenetic Map6p21.31UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic Map7q31UniSTS
Cytogenetic Map2q12.2UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map11q12-q13UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map10p11.21UniSTS
Cytogenetic Map6p22-p21UniSTS
Cytogenetic Map17q21.1-q21.3UniSTS
Cytogenetic Map12q24.33UniSTS
Cytogenetic Map4p15.32UniSTS
Cytogenetic Map1q42.13UniSTS
Cytogenetic Map19q12UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map12p13.2-p12.3UniSTS
Cytogenetic Map9q22.32UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map5q22.2UniSTS
Cytogenetic Map4p15.2UniSTS
Cytogenetic Map4p15.3UniSTS
Cytogenetic Map4q28.1UniSTS
Cytogenetic Map12q13.1-q13.2UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map1p31UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map9p22.3UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map8q21.11UniSTS
Cytogenetic Map22q12.1UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map20p12.1UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic Map6q22.32UniSTS
Cytogenetic Map5q34UniSTS
Cytogenetic Map5p15.2UniSTS
Cytogenetic Map5q11.2UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map18q12.2UniSTS
Cytogenetic Map14q21.3UniSTS
Cytogenetic Map13q33.1UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic Map12q23.1UniSTS
Cytogenetic Map16p12.1UniSTS
Cytogenetic Map2q33UniSTS
Cytogenetic Map5q12.1UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map7q36UniSTS
Cytogenetic Map10q22.3-q23.2UniSTS
Cytogenetic Map7p15UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map11q21UniSTS
Cytogenetic Map4q21.3UniSTS
Cytogenetic Map7p13-p12UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map3q12.1UniSTS
Cytogenetic Map7q21.1-q22UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map3q13.13-q13.2UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map13q32.2UniSTS
Cytogenetic Map3q26.32UniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map2p13.2UniSTS
Cytogenetic Map3p12.3UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map3q11.2UniSTS
Cytogenetic Map12q13.11UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map6q16.2UniSTS
Cytogenetic Map3q21.1UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map6p24.2UniSTS
Cytogenetic Map20q13.33UniSTS
D8S2279  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map21q22.12UniSTS
Cytogenetic Map15q13UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map15q22.3UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map21q21.3UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map17q24.2UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map15q13.2UniSTS
Cytogenetic Map12q24.1UniSTS
Cytogenetic Map7p15.2UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map2p25.2UniSTS
Cytogenetic Map3p24.3UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map5q14UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map1q42.12UniSTS
Cytogenetic Map7q21.11UniSTS
Cytogenetic Map9q34.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map6p21.1-p12UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map7p21.3UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map22q11.22UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map1q12UniSTS
Cytogenetic Map8p23UniSTS
Cytogenetic Map11q13.2-q13.3UniSTS
Cytogenetic Map13q14.1-q14.3UniSTS
Cytogenetic Map3q22-q24UniSTS
Cytogenetic Map3q13.1-q13.2UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map5q23.3-q31.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map17q11UniSTS
Cytogenetic Map17p13.1-p12UniSTS
Cytogenetic Map18q21.33UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map1q21-q23UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map17p12-p11.2UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map2q32UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map2q33UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map3q27UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map10q23-q24UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map14q31-q32UniSTS
Cytogenetic Map5p15.33UniSTS
Cytogenetic Map1q23.2UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map2q32.3UniSTS
Cytogenetic Map15q21.1UniSTS
Cytogenetic Map4q32.2UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map5q14.2UniSTS
Cytogenetic Map4q32.1UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map11q14.1UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map3p21.1UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map6q22UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map11q23UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map22q12.3UniSTS
Cytogenetic Map20q11UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map18p11.31UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map2p22.1UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map1p35.2UniSTS
Cytogenetic MapYp11.2UniSTS
Cytogenetic Map13q13.1UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map18q12UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map3q27.2UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map5p15.2UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map1q42UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map17q21.2-q21.3UniSTS
Cytogenetic Map5q32-q34UniSTS
Cytogenetic Map15q14UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map3q21.2UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map14q24.2UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map1q32.3UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map13q14.3UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map10p12UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic Map14q21.3UniSTS
Cytogenetic Map8p22-p21UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map12q21.33UniSTS
Cytogenetic Map20q13.32UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map10q26UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map7q31.1UniSTS
Cytogenetic Map1p33UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map9q22.3UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map3q25UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map14q31.1UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map12q13.2UniSTS
Cytogenetic Map22q13.31-q13.33UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic Map7q32.2UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map14q31-q32.1UniSTS
Cytogenetic Map1q42.11UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map2q11.2-q12.1UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map6q16.2UniSTS
Cytogenetic Map18q23UniSTS
Cytogenetic Map2q14UniSTS
Cytogenetic Map20p11.23-p11.21UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic MapXq26.3UniSTS
Cytogenetic Map8q24.11UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map1q44UniSTS
Cytogenetic Map9q22.33UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map9q21.32UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map1p36.1UniSTS
Cytogenetic Map20q12UniSTS
Cytogenetic Map4q21.23UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map22q12.1UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map2q21.3UniSTS
Cytogenetic Map7q21.2UniSTS
Cytogenetic Map17q22.2UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map12q24.11UniSTS
Cytogenetic Map18q21UniSTS
Cytogenetic Map10q11.1UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map19q12UniSTS
Cytogenetic Map7q34-q35UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map1q23.1UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map6p25.1-p23UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map18q12.1-q21.1UniSTS
Cytogenetic Map12p13.1UniSTS
Cytogenetic Map13q12.1UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic Map6p21.32UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map12p13.1-p12.3UniSTS
Cytogenetic Map3p25.2UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map3p21.2UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic MapXp21.2UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map9q21.12UniSTS
Cytogenetic Map15q23UniSTS
Cytogenetic Map7p22.2UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map7q33UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map4q21.22UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map10q24.31UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map16p12.3UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map2q24.3UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map3q13.31UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map6q25UniSTS
Cytogenetic Map6p21UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map12p13-p12UniSTS
Cytogenetic Map9p13.2UniSTS
Cytogenetic Map6p22UniSTS
Cytogenetic Map2q12.1UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map1p22.1UniSTS
Cytogenetic Map1p36UniSTS
Cytogenetic Map9q13-q21UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic MapXp11.2UniSTS
Cytogenetic Map19pUniSTS
Cytogenetic Map19p13.1-p12UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map12q24.33UniSTS
Cytogenetic Map3q21UniSTS
Cytogenetic Map8q24UniSTS
Cytogenetic Map18p11.31-p11.21UniSTS
Cytogenetic Map11p15.3-p15.1UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map8q22UniSTS
Cytogenetic Map4p15.1UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map2p16.3UniSTS
Cytogenetic Map16p13.12UniSTS
Cytogenetic Map7p21.2UniSTS
Cytogenetic Map12q21.1UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map6q24.3UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map5q23.1UniSTS
Cytogenetic Map10q23.2UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map6q22.1UniSTS
Cytogenetic Map1q42.1UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map6p22.3UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map15q22.1UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map3p21-p12UniSTS
Cytogenetic Map4q35UniSTS
Cytogenetic Map1p34-p33UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map3p22-p21.33UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map3q22.1UniSTS
Cytogenetic Map8q21.11UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map7p14UniSTS
Cytogenetic Map17q21.1UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map9q22UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic Map20q11.2-q13.2UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map17q24UniSTS
Cytogenetic Map3q25.31UniSTS
Cytogenetic Map6p24.3UniSTS
Cytogenetic Map2q31.3UniSTS
Cytogenetic Map1q31UniSTS
Cytogenetic Map7q32-q33UniSTS
Cytogenetic Map7q21.1UniSTS
Cytogenetic Map14q23-q24.2UniSTS
Cytogenetic Map19q13.3-q13.4UniSTS
Cytogenetic Map2p24-p21UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map15q26.3UniSTS
Cytogenetic Map7p22UniSTS
Cytogenetic Map12p11UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map1p12UniSTS
Cytogenetic Map13q32.3UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map20q13UniSTS
Cytogenetic Map17q25.2UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map10p12.33UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic MapXp11.22UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic MapXq25-q26UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map5p13UniSTS
Cytogenetic Map15q25UniSTS
Cytogenetic Map5q12.1UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map1p36.22UniSTS
Cytogenetic Map3q26.31UniSTS
Cytogenetic Map17q22-q23UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic MapXq13.2UniSTS
Cytogenetic Map12q23.1UniSTS
Cytogenetic Map16q12.2UniSTS
Cytogenetic Map3q26.32UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map3q26.2-q27UniSTS
Cytogenetic Map1q25.1-q25.2UniSTS
Cytogenetic Map14q24UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map3p25.1UniSTS
Cytogenetic Map5q21.3UniSTS
Cytogenetic Map5p13.3UniSTS
Cytogenetic Map10q22.1UniSTS
Cytogenetic Map14q12-q13UniSTS
Cytogenetic MapXp22UniSTS
Cytogenetic MapXq23UniSTS
Cytogenetic Map20p12.3-p11.21UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map17q11.2-q12UniSTS
Cytogenetic Map4q32-q34UniSTS
Cytogenetic MapXq25-q26.1UniSTS
Cytogenetic Map2p25-p24UniSTS
Cytogenetic Map2p25UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic MapXp22.2-p22.1UniSTS
Cytogenetic MapXq22.1UniSTS
Cytogenetic Map4q25UniSTS
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map20q11.22-q12UniSTS
Cytogenetic Map4q34.2UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map22q13.1-q13.2UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map12q13-q14UniSTS
Cytogenetic Map6q14.1UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map9q31.2UniSTS
Cytogenetic Map11q13.1-q13.2UniSTS
Cytogenetic Map12q13UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map21q21.2UniSTS
Cytogenetic Map10q24.3UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map8q21.1UniSTS
Cytogenetic Map5p13.2UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic Map1q32.2UniSTS
Cytogenetic Map4q21.3UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map3q26.2UniSTS
Cytogenetic Map2q36.3UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map11q22.1UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map10q23.31UniSTS
Cytogenetic Map4p15.32UniSTS
Cytogenetic Map18q12.2UniSTS
Cytogenetic Map15q15.2UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map14q24.1UniSTS
Cytogenetic Map12q14.1UniSTS
Cytogenetic Map6p22.3-p22.1UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map6q15UniSTS
Cytogenetic Map6q23.3UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map5q35.2UniSTS
Cytogenetic Map10q22.3UniSTS
Cytogenetic Map1p35UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map8q23.1UniSTS
Cytogenetic Map6q27UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic MapXp11UniSTS
Cytogenetic Map11p15.3UniSTS
Cytogenetic Map20p12UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic MapXp22.3UniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map19p13.3-p13.2UniSTS
Cytogenetic Map1p36.11-p34.2UniSTS
Cytogenetic Map4q22.1-q23UniSTS
Cytogenetic Map7q22.3UniSTS
Cytogenetic Map9p22UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map2p22.3UniSTS
Cytogenetic MapXq26.1UniSTS
Cytogenetic Map4q21.21UniSTS
Cytogenetic Map22q13.3UniSTS
Cytogenetic Map2q32.1UniSTS
Cytogenetic MapYp11.32UniSTS
Cytogenetic Map11p14UniSTS
Cytogenetic Map1p32.1UniSTS
Cytogenetic Map2p25.3UniSTS
Cytogenetic Map4q34.3UniSTS
Cytogenetic Map9p12UniSTS
Cytogenetic Map3q13.13UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map3p21UniSTS
Cytogenetic Map11q23.2UniSTS
Cytogenetic Map20p11.23UniSTS
Cytogenetic Map3p13UniSTS
Cytogenetic Map4p13UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map10p11.23UniSTS
Cytogenetic Map8p21.1UniSTS
Cytogenetic Map15q22-q24UniSTS
Cytogenetic Map8q23UniSTS
Cytogenetic Map16q12.1UniSTS
Cytogenetic Map14q13.2UniSTS
Cytogenetic Map18q12.1UniSTS
Cytogenetic Map5q31.3UniSTS
Cytogenetic Map11q14UniSTS
Cytogenetic Map13q33.1UniSTS
Cytogenetic Map14q21.2UniSTS
Cytogenetic Map4q31.3UniSTS
Cytogenetic Map15q21-q22UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map13q12.11UniSTS
Cytogenetic Map6p21.2UniSTS
Cytogenetic Map15q21.3UniSTS
Cytogenetic Map3q21.1UniSTS
Cytogenetic Map6p21.31UniSTS
Cytogenetic Map10p15.1UniSTS
Cytogenetic Map1q24.2UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map11q24UniSTS
Cytogenetic Map21q22.13UniSTS
Cytogenetic Map15q22.1-q22.31UniSTS
Cytogenetic Map15q22UniSTS
Cytogenetic MapXq13UniSTS
Cytogenetic Map1q31-q41UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic Map14q32.1UniSTS
Cytogenetic Map16q12-q13UniSTS
Cytogenetic MapXq12-q13UniSTS
Cytogenetic Map14q23UniSTS
Cytogenetic Map12q11-q12UniSTS
Cytogenetic Map1q42.1-q43UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic Map7q31UniSTS
Cytogenetic Map12q24UniSTS
Cytogenetic MapXp22.11UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map8q24.21UniSTS
Cytogenetic Map12q13.1UniSTS
Cytogenetic Map12q22-q23.1UniSTS
Cytogenetic Map11q12.2UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map5q31.2-q34UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map6q24.2UniSTS
Cytogenetic Map22qUniSTS
Cytogenetic Map12q13.11-q14.3UniSTS
Cytogenetic Map7p11UniSTS
Cytogenetic MapXp22.12-p22.11UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map20q11.22-q11.23UniSTS
Cytogenetic Map8q24.22UniSTS
Cytogenetic Map8p22-p21.3UniSTS
Cytogenetic Map10q24UniSTS
Cytogenetic Map1q21.2-q21.3UniSTS
Cytogenetic Map1p36.12UniSTS
Cytogenetic Map9p24.1UniSTS
Cytogenetic Map6q25.2-q27UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map8q11.2UniSTS
Cytogenetic Map3q28-q29UniSTS
Cytogenetic Map7p14-p13UniSTS
Cytogenetic Map12q24.2UniSTS
Cytogenetic Map6p22.2UniSTS
Cytogenetic Map7q22-qterUniSTS
Cytogenetic Map12q24.2-q24.31UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map1p21UniSTS
Cytogenetic Map1q32.2-q41UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map12q23-q24.1UniSTS
Cytogenetic Map5p15.1-p14.3UniSTS
Cytogenetic Map16p13.11UniSTS
Cytogenetic Map6q22-q23UniSTS
Cytogenetic Map9p21UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map3p12.1UniSTS
Cytogenetic Map9q21.11UniSTS
Cytogenetic Map17q24.1UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map14q21UniSTS
Cytogenetic Map11p15UniSTS
Cytogenetic Map16q22UniSTS
Cytogenetic Map15q11-q13UniSTS
Cytogenetic Map13q12-q14UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map2q24UniSTS
Cytogenetic Map12p13UniSTS
Cytogenetic Map3q28UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic MapXq22.2UniSTS
Cytogenetic Map7p12.3UniSTS
Cytogenetic Map7p15.1UniSTS
Cytogenetic Map2q37.2UniSTS
Cytogenetic Map18q22.3UniSTS
Cytogenetic Map14q32.13UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map16p13.1UniSTS
Cytogenetic Map7q31.3UniSTS
Cytogenetic Map20q13.2-q13.3UniSTS
Cytogenetic Map1p21.2UniSTS
Cytogenetic Map9q21.33UniSTS
Cytogenetic Map14q32.2UniSTS
Cytogenetic Map13q13.3UniSTS
Cytogenetic Map10p12.31UniSTS
Cytogenetic Map22q11.1UniSTS
Cytogenetic Map5q33.2UniSTS
Cytogenetic Map13q32.2UniSTS
Cytogenetic Map14q23.1UniSTS
Cytogenetic Map8q21.2UniSTS
Cytogenetic Map2q24.1UniSTS
Cytogenetic Map10q26.13UniSTS
Cytogenetic Map2q23.3UniSTS
Cytogenetic Map19p13.1UniSTS
Cytogenetic Map15q14-q15UniSTS
Cytogenetic Map1q42.13UniSTS
Cytogenetic Map14q31UniSTS
Cytogenetic Map7p21.1UniSTS
Cytogenetic Map8p12-p11UniSTS
Cytogenetic Map18p11.2UniSTS
Cytogenetic Map7p11.1UniSTS
Cytogenetic Map1q31-q32UniSTS
Cytogenetic Map2q12UniSTS
Cytogenetic Map3p21.32UniSTS
Cytogenetic Map2p24.2UniSTS
Cytogenetic Map2q33-q34UniSTS
Cytogenetic Map6q24.1UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map15q13.3UniSTS
Cytogenetic Map10q26.11UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map10q23.33UniSTS
Cytogenetic Map12p12.1UniSTS
Cytogenetic Map7p13-p12UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map17q11-q21UniSTS
Cytogenetic Map12q23UniSTS
Cytogenetic Map6p24-p22.3UniSTS
Cytogenetic Map14q23.2UniSTS
Cytogenetic Map7q31.1-q31.2UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic Map3p26.1-p25.1UniSTS
Cytogenetic Map5q35UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map4p15.2UniSTS
Cytogenetic Map6q16.3UniSTS
Cytogenetic Map17q24-q25UniSTS
Cytogenetic MapXq12UniSTS
Cytogenetic MapXq27.1UniSTS
Cytogenetic Map8q12.3UniSTS
Cytogenetic Map5q21.2UniSTS
Cytogenetic Map5q15UniSTS
Cytogenetic Map5q35.1UniSTS
Cytogenetic Map4q13.3UniSTS
Cytogenetic Map4q35.2UniSTS
Cytogenetic Map3p26.1UniSTS
Cytogenetic Map3p11.1UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map2q21.2UniSTS
Cytogenetic Map19p13.13UniSTS
Cytogenetic Map18q12.3UniSTS
Cytogenetic Map18p11.3UniSTS
Cytogenetic Map17q11.1UniSTS
Cytogenetic Map15q25.1UniSTS
Cytogenetic Map13q12.3UniSTS
Cytogenetic Map12q23.2UniSTS
Cytogenetic Map12q12-q13UniSTS
Cytogenetic Map12q14UniSTS
Cytogenetic Map5q33.1UniSTS
Cytogenetic Map2q32-q34UniSTS
Cytogenetic Map16q22.3UniSTS
Cytogenetic Map2p15-p13UniSTS
Cytogenetic MapXp11.4UniSTS
Cytogenetic Map19q13.33-q13.41UniSTS
Cytogenetic Map20p11UniSTS
Cytogenetic Map6q23-q24UniSTS
Cytogenetic Map2p12UniSTS
Cytogenetic Map2p13UniSTS
Cytogenetic Map13q11-q12UniSTS
Cytogenetic Map6p12.3-p11.2UniSTS
Cytogenetic Map6q16.1-q16.3UniSTS
Cytogenetic Map22q11UniSTS
Cytogenetic Map7q31.2UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map3q25.2UniSTS
Cytogenetic Map3p21.1-p14.3UniSTS
Cytogenetic Map6p12.1UniSTS
Cytogenetic Map3q23-q24UniSTS
Cytogenetic Map3q12UniSTS
Cytogenetic Map7q11.1UniSTS
Cytogenetic Map3q22.3UniSTS
Cytogenetic Map7q21.3UniSTS
Cytogenetic Map4q31.1UniSTS
Cytogenetic Map22q12-q13UniSTS
Cytogenetic Map4q23UniSTS
Cytogenetic MapXp22.12UniSTS
Cytogenetic Map6q16.1UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map18q21.3UniSTS
Cytogenetic Map9q33.2UniSTS
Cytogenetic Map11q21UniSTS
Cytogenetic Map8q12UniSTS
Cytogenetic Map4q28-q32UniSTS
Cytogenetic Map17q24.3UniSTS
Cytogenetic Map6p23UniSTS
Cytogenetic Map8p11UniSTS
Cytogenetic Map5q34UniSTS
Cytogenetic Map1q24.3UniSTS
Cytogenetic Map9q33.1UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map2p16.2UniSTS
Cytogenetic Map9q22.31UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map7q35UniSTS
Cytogenetic Map1p36.2UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map16p12UniSTS
Cytogenetic Map1q22-q23UniSTS
Cytogenetic Map13q22.1UniSTS
Cytogenetic Map2q12.2UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map4q21UniSTS
Cytogenetic Map13q12.2UniSTS
Cytogenetic Map9q31-q33UniSTS
Cytogenetic Map6p24.1UniSTS
Cytogenetic Map1q23UniSTS
Cytogenetic Map11q12-q13UniSTS
Cytogenetic Map11q13.3UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map11q12.1UniSTS
Cytogenetic Map3p26UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map8p21UniSTS
Cytogenetic Map19q13.1-q13.2UniSTS
Cytogenetic Map1p33-p32UniSTS
Cytogenetic Map7q36.2UniSTS
Cytogenetic Map4q32.3UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map10q26.1UniSTS
Cytogenetic Map9q32-q33.3UniSTS
Cytogenetic Map9q22.1-q22.2UniSTS
Cytogenetic Map3q26.1-q26.2UniSTS
Cytogenetic Map5q31-q34UniSTS
Cytogenetic Map9q33-q34UniSTS
Cytogenetic Map5q11.2-q13.2UniSTS
Cytogenetic Map13q32UniSTS
Cytogenetic Map9q22.32UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map4q28.1UniSTS
Cytogenetic Map5q22UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic MapXq13.3UniSTS
Cytogenetic Map9q31.3UniSTS
Cytogenetic Map3p26.3UniSTS
Cytogenetic Map2q11.1UniSTS
Cytogenetic Map21q11.2UniSTS
Cytogenetic Map18q21.32UniSTS
Cytogenetic Map15q26.2UniSTS
Cytogenetic Map12q24.23UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map20p12.1UniSTS
Cytogenetic Map2q31.1-q31.2UniSTS
Cytogenetic MapXp22.31UniSTS
Cytogenetic MapXp21.3UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map4q28.2UniSTS
Cytogenetic Map3p14.2UniSTS
Cytogenetic Map3q24UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map20q13.2UniSTS
Cytogenetic Map14q11.2-q12UniSTS
Cytogenetic Map3p24UniSTS
Cytogenetic Map12q23.3UniSTS
Cytogenetic Map11q24.3UniSTS
Cytogenetic Map11q14.3UniSTS
Cytogenetic Map10q25.2UniSTS
Cytogenetic Map3q25.1UniSTS
Cytogenetic Map8q13UniSTS
Cytogenetic Map1p22.2UniSTS
Cytogenetic Map3p22.3UniSTS
Cytogenetic Map18q11.1UniSTS
Cytogenetic Map8q23.3UniSTS
Cytogenetic Map15q24UniSTS
Cytogenetic Map11cen-q12UniSTS
Cytogenetic Map11q25UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic MapXp21.1UniSTS
Cytogenetic Map7q36UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map12q21UniSTS
Cytogenetic Map7p15UniSTS
Cytogenetic Map7q22-q31UniSTS
Cytogenetic Map11q22UniSTS
Cytogenetic Map5p15.3UniSTS
Cytogenetic Map20q13.3-qterUniSTS
Cytogenetic Map1p35-p34UniSTS
Cytogenetic Map4p13-p12UniSTS
Cytogenetic Map10q21-q22UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map7p13-p11.1UniSTS
Cytogenetic Map9q31-q34UniSTS
Cytogenetic Map7q21.1-q22UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map3q13.13-q13.2UniSTS
Cytogenetic MapXp22.13UniSTS
Cytogenetic Map13q12.12UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map1pUniSTS
Cytogenetic Map16pUniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map7qUniSTS
Cytogenetic Map2qUniSTS
Cytogenetic Map5q13.1UniSTS
Cytogenetic Map11p14.1UniSTS
Cytogenetic Map4q32UniSTS
Cytogenetic Map2p22UniSTS
Cytogenetic Map5q14.3UniSTS
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map5q23.2UniSTS
Cytogenetic Map2p24.1UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map12p13.32UniSTS
Cytogenetic Map9p21.1UniSTS
Cytogenetic Map9q34.2-q34.3UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1920
Count of miRNA genes:901
Interacting mature miRNAs:1021
Transcripts:ENST00000243344, ENST00000392695, ENST00000464374, ENST00000476227, ENST00000484129, ENST00000486672, ENST00000489714, ENST00000497425, ENST00000536175
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 371 409 344 37 647 32 1751 235 1210 122 771 621 13 345 1107 2
Low 2068 2448 1382 587 1175 433 2606 1957 2524 297 689 991 162 1 859 1681 4 2
Below cutoff 134 129 5

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_030345 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_024753 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006712761 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011511871 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011511872 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017004967 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017004968 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017004969 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB073395 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC009495 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC010127 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC011241 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC011303 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC019140 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC108031 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK057268 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK096451 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK292942 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC035767 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC055424 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC063579 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX114229 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX647903 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471058 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CK905149 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA798655 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000243344   ⟹   ENSP00000243344
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2165,873,362 - 165,953,776 (-)Ensembl
RefSeq Acc Id: ENST00000392695   ⟹   ENSP00000376460
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2165,857,478 - 165,890,641 (-)Ensembl
RefSeq Acc Id: ENST00000464374
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2165,928,717 - 165,953,745 (-)Ensembl
RefSeq Acc Id: ENST00000476227
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2165,949,111 - 165,953,811 (-)Ensembl
RefSeq Acc Id: ENST00000484129
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2165,898,627 - 165,907,720 (-)Ensembl
RefSeq Acc Id: ENST00000486672
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2165,857,475 - 165,871,211 (-)Ensembl
RefSeq Acc Id: ENST00000489714
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2165,857,475 - 165,870,991 (-)Ensembl
RefSeq Acc Id: ENST00000497425
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2165,878,786 - 165,884,586 (-)Ensembl
RefSeq Acc Id: ENST00000652557   ⟹   ENSP00000498617
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2165,867,381 - 165,953,816 (-)Ensembl
RefSeq Acc Id: ENST00000679356   ⟹   ENSP00000506245
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2165,857,493 - 165,953,816 (-)Ensembl
RefSeq Acc Id: ENST00000679671
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2165,910,857 - 165,953,818 (-)Ensembl
RefSeq Acc Id: ENST00000679676   ⟹   ENSP00000505492
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2165,857,493 - 165,953,818 (-)Ensembl
RefSeq Acc Id: ENST00000679799   ⟹   ENSP00000505208
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2165,867,393 - 165,953,816 (-)Ensembl
RefSeq Acc Id: ENST00000679840   ⟹   ENSP00000505248
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2165,878,873 - 165,953,816 (-)Ensembl
RefSeq Acc Id: ENST00000679931   ⟹   ENSP00000505632
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2165,857,496 - 165,953,811 (-)Ensembl
RefSeq Acc Id: ENST00000679967   ⟹   ENSP00000506607
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2165,857,493 - 165,953,816 (-)Ensembl
RefSeq Acc Id: ENST00000680225
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2165,923,779 - 165,930,517 (-)Ensembl
RefSeq Acc Id: ENST00000680249
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2165,857,496 - 165,861,952 (-)Ensembl
RefSeq Acc Id: ENST00000680327   ⟹   ENSP00000506639
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2165,857,493 - 165,953,811 (-)Ensembl
RefSeq Acc Id: ENST00000680448   ⟹   ENSP00000505921
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2165,892,048 - 165,953,841 (-)Ensembl
RefSeq Acc Id: ENST00000680657
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2165,857,496 - 165,953,816 (-)Ensembl
RefSeq Acc Id: ENST00000680690   ⟹   ENSP00000506121
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2165,857,493 - 165,953,821 (-)Ensembl
RefSeq Acc Id: ENST00000680698
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2165,931,112 - 165,937,671 (-)Ensembl
RefSeq Acc Id: ENST00000680888   ⟹   ENSP00000506276
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2165,857,493 - 165,953,851 (-)Ensembl
RefSeq Acc Id: ENST00000680904
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2165,857,488 - 165,875,209 (-)Ensembl
RefSeq Acc Id: ENST00000680925
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2165,878,743 - 165,902,477 (-)Ensembl
RefSeq Acc Id: ENST00000680947   ⟹   ENSP00000506496
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2165,857,493 - 165,953,830 (-)Ensembl
RefSeq Acc Id: ENST00000681024   ⟹   ENSP00000506449
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2165,857,493 - 165,953,821 (-)Ensembl
RefSeq Acc Id: ENST00000681083   ⟹   ENSP00000506095
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2165,857,493 - 165,953,823 (-)Ensembl
RefSeq Acc Id: ENST00000681167
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2165,857,493 - 165,933,950 (-)Ensembl
RefSeq Acc Id: ENST00000681483   ⟹   ENSP00000505499
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2165,857,496 - 165,953,816 (-)Ensembl
RefSeq Acc Id: ENST00000681502   ⟹   ENSP00000505644
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2165,857,493 - 165,953,759 (-)Ensembl
RefSeq Acc Id: ENST00000681606   ⟹   ENSP00000505354
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2165,892,301 - 165,953,816 (-)Ensembl
RefSeq Acc Id: ENST00000681819   ⟹   ENSP00000505673
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2165,869,907 - 165,953,816 (-)Ensembl
RefSeq Acc Id: ENST00000681952   ⟹   ENSP00000506400
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2165,857,522 - 165,953,816 (-)Ensembl
RefSeq Acc Id: NM_024753   ⟹   NP_079029
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382165,873,362 - 165,953,776 (-)NCBI
GRCh372166,729,872 - 166,810,348 (-)NCBI
Build 362166,438,699 - 166,518,594 (-)NCBI Archive
Celera2160,340,419 - 160,420,342 (-)RGD
HuRef2158,611,801 - 158,691,750 (-)NCBI
CHM1_12166,736,157 - 166,816,658 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006712761   ⟹   XP_006712824
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382165,892,795 - 165,953,781 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011511871   ⟹   XP_011510173
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382165,873,362 - 165,941,009 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011511872   ⟹   XP_011510174
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382165,873,362 - 165,953,781 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017004967   ⟹   XP_016860456
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382165,876,587 - 165,953,781 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017004968   ⟹   XP_016860457
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382165,873,362 - 165,936,886 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017004969   ⟹   XP_016860458
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382165,873,362 - 165,949,431 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_079029   ⟸   NM_024753
- UniProtKB: Q7Z4L5 (UniProtKB/Swiss-Prot),   A8KA77 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006712824   ⟸   XM_006712761
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_011510173   ⟸   XM_011511871
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_011510174   ⟸   XM_011511872
- Peptide Label: isoform X6
- Sequence:
RefSeq Acc Id: XP_016860458   ⟸   XM_017004969
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: XP_016860457   ⟸   XM_017004968
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_016860456   ⟸   XM_017004967
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: ENSP00000243344   ⟸   ENST00000243344
RefSeq Acc Id: ENSP00000498617   ⟸   ENST00000652557
RefSeq Acc Id: ENSP00000376460   ⟸   ENST00000392695
RefSeq Acc Id: ENSP00000506095   ⟸   ENST00000681083
RefSeq Acc Id: ENSP00000506121   ⟸   ENST00000680690
RefSeq Acc Id: ENSP00000505632   ⟸   ENST00000679931
RefSeq Acc Id: ENSP00000505492   ⟸   ENST00000679676
RefSeq Acc Id: ENSP00000506496   ⟸   ENST00000680947
RefSeq Acc Id: ENSP00000506639   ⟸   ENST00000680327
RefSeq Acc Id: ENSP00000506400   ⟸   ENST00000681952
RefSeq Acc Id: ENSP00000505248   ⟸   ENST00000679840
RefSeq Acc Id: ENSP00000506449   ⟸   ENST00000681024
RefSeq Acc Id: ENSP00000505354   ⟸   ENST00000681606
RefSeq Acc Id: ENSP00000505644   ⟸   ENST00000681502
RefSeq Acc Id: ENSP00000505921   ⟸   ENST00000680448
RefSeq Acc Id: ENSP00000505208   ⟸   ENST00000679799
RefSeq Acc Id: ENSP00000506607   ⟸   ENST00000679967
RefSeq Acc Id: ENSP00000505673   ⟸   ENST00000681819
RefSeq Acc Id: ENSP00000505499   ⟸   ENST00000681483
RefSeq Acc Id: ENSP00000506245   ⟸   ENST00000679356
RefSeq Acc Id: ENSP00000506276   ⟸   ENST00000680888
Protein Domains
TPR_REGION

Promoters
RGD ID:6861926
Promoter ID:EPDNEW_H4128
Type:initiation region
Name:TTC21B_1
Description:tetratricopeptide repeat domain 21B
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382165,953,776 - 165,953,836EPDNEW
RGD ID:6798359
Promoter ID:HG_KWN:35721
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000333770,   OTTHUMT00000333776,   UC002UDL.1
Position:
Human AssemblyChrPosition (strand)Source
Build 362166,518,499 - 166,518,999 (-)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_024753.5(TTC21B):c.2258C>T (p.Pro753Leu) single nucleotide variant Asphyxiating thoracic dystrophy 4 [RCV001128710]|Jeune thoracic dystrophy [RCV000550901]|Meckel-Gruber-like syndrome [RCV001258267]|Nephronophthisis 12 [RCV001128711]|not provided [RCV001572659] Chr2:165912578 [GRCh38]
Chr2:166769088 [GRCh37]
Chr2:2q24.3
benign|likely benign|uncertain significance
NM_024753.5(TTC21B):c.3605T>C (p.Leu1202Pro) single nucleotide variant Asphyxiating thoracic dystrophy 4 [RCV000656518]|Type IV short rib polydactyly syndrome [RCV000515826] Chr2:165883873 [GRCh38]
Chr2:166740383 [GRCh37]
Chr2:2q24.3
pathogenic|likely pathogenic
NM_024753.5(TTC21B):c.1397C>A (p.Pro466His) single nucleotide variant Jeune thoracic dystrophy [RCV000516140] Chr2:165924668 [GRCh38]
Chr2:166781178 [GRCh37]
Chr2:2q24.3
likely pathogenic
NM_024753.5(TTC21B):c.489del (p.Ala164fs) deletion not provided [RCV000722379] Chr2:165943282 [GRCh38]
Chr2:166799792 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_024753.5(TTC21B):c.2693G>A (p.Arg898Gln) single nucleotide variant Asphyxiating thoracic dystrophy 4 [RCV001131238]|Jeune thoracic dystrophy [RCV000515927]|Nephronophthisis 12 [RCV001131237] Chr2:165901786 [GRCh38]
Chr2:166758296 [GRCh37]
Chr2:2q24.3
conflicting interpretations of pathogenicity|uncertain significance
NM_024753.5(TTC21B):c.626C>T (p.Pro209Leu) single nucleotide variant Asphyxiating thoracic dystrophy 4 [RCV000763456]|Finnish congenital nephrotic syndrome [RCV000786982]|Infantile nephronophthisis [RCV000857219]|Jeune thoracic dystrophy [RCV000685092]|Nephronophthisis 12 [RCV000023924]|Nephrotic syndrome [RCV001328175]|Renal dysplasia and retinal aplasia [RCV001003236]|Retinal dystrophy [RCV001074967]|not provided [RCV000681870] Chr2:165941111 [GRCh38]
Chr2:166797621 [GRCh37]
Chr2:2q24.3
pathogenic|likely pathogenic
NM_024753.5(TTC21B):c.1656T>A (p.Cys552Ter) single nucleotide variant Nephronophthisis 12 [RCV000023925] Chr2:165919294 [GRCh38]
Chr2:166775804 [GRCh37]
Chr2:2q24.3
pathogenic
NM_024753.5(TTC21B):c.2758-2A>G single nucleotide variant Asphyxiating thoracic dystrophy 4 [RCV001535927]|Infantile nephronophthisis [RCV000857220]|Nephronophthisis 12 [RCV000023926] Chr2:165899882 [GRCh38]
Chr2:166756392 [GRCh37]
Chr2:2q24.3
pathogenic|likely pathogenic
NM_024753.5(TTC21B):c.1231C>T (p.Arg411Ter) single nucleotide variant Asphyxiating thoracic dystrophy 4 [RCV000023927]|not provided [RCV000627256] Chr2:165929290 [GRCh38]
Chr2:166785800 [GRCh37]
Chr2:2q24.3
pathogenic
NM_024753.5(TTC21B):c.2384T>C (p.Leu795Pro) single nucleotide variant Asphyxiating thoracic dystrophy 4 [RCV000023928] Chr2:165911404 [GRCh38]
Chr2:166767914 [GRCh37]
Chr2:2q24.3
pathogenic
NM_024753.5(TTC21B):c.1709C>T (p.Ala570Val) single nucleotide variant not provided [RCV000723047] Chr2:165917447 [GRCh38]
Chr2:166773957 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_024753.5(TTC21B):c.2500C>T (p.Gln834Ter) single nucleotide variant Short rib-polydactyly syndrome, Majewski type [RCV000515936] Chr2:165907746 [GRCh38]
Chr2:166764256 [GRCh37]
Chr2:2q24.3
pathogenic|likely pathogenic
NM_024753.5(TTC21B):c.2913dup (p.Val972fs) duplication not provided [RCV000722432] Chr2:165898722..165898723 [GRCh38]
Chr2:166755232..166755233 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_024753.5(TTC21B):c.152-2A>G single nucleotide variant Asphyxiating thoracic dystrophy 4 [RCV000656517] Chr2:165949506 [GRCh38]
Chr2:166806016 [GRCh37]
Chr2:2q24.3
pathogenic|likely pathogenic
NM_024753.5(TTC21B):c.268_269insTAGA (p.Glu90fs) insertion SHORT-RIB THORACIC DYSPLASIA 4 WITH POLYDACTYLY [RCV000656519] Chr2:165945684..165945685 [GRCh38]
Chr2:166802194..166802195 [GRCh37]
Chr2:2q24.3
pathogenic
NM_024753.5(TTC21B):c.1538A>G (p.Asn513Ser) single nucleotide variant Jeune thoracic dystrophy [RCV000545623] Chr2:165919412 [GRCh38]
Chr2:166775922 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_024753.5(TTC21B):c.703G>C (p.Ala235Pro) single nucleotide variant Jeune thoracic dystrophy [RCV000516004]|Jeune thoracic dystrophy [RCV001304507] Chr2:165941034 [GRCh38]
Chr2:166797544 [GRCh37]
Chr2:2q24.3
likely pathogenic|uncertain significance
NM_024753.5(TTC21B):c.3182A>G (p.Tyr1061Cys) single nucleotide variant not provided [RCV000519482] Chr2:165890560 [GRCh38]
Chr2:166747070 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_024753.4(TTC21B):c.1674+690G>T single nucleotide variant Lung cancer [RCV000091635] Chr2:165918586 [GRCh38]
Chr2:166775096 [GRCh37]
Chr2:2q24.3
uncertain significance
GRCh38/hg38 2q24.3-31.1(chr2:164850117-175559190)x1 copy number loss See cases [RCV000051201] Chr2:164850117..175559190 [GRCh38]
Chr2:165706627..176423918 [GRCh37]
Chr2:165414873..176132164 [NCBI36]
Chr2:2q24.3-31.1
pathogenic
GRCh38/hg38 2q24.1-24.3(chr2:158382388-166605758)x1 copy number loss See cases [RCV000051003] Chr2:158382388..166605758 [GRCh38]
Chr2:159238900..167462268 [GRCh37]
Chr2:158947146..167170514 [NCBI36]
Chr2:2q24.1-24.3
pathogenic
GRCh38/hg38 2q24.3(chr2:165542962-166152073)x3 copy number gain See cases [RCV000052698] Chr2:165542962..166152073 [GRCh38]
Chr2:166399472..167008583 [GRCh37]
Chr2:166107718..166716829 [NCBI36]
Chr2:2q24.3
uncertain significance
GRCh38/hg38 2q24.3(chr2:165888312-166443535)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052699]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052699]|See cases [RCV000052699] Chr2:165888312..166443535 [GRCh38]
Chr2:166744822..167300045 [GRCh37]
Chr2:166453068..167008291 [NCBI36]
Chr2:2q24.3
uncertain significance
GRCh38/hg38 2q24.1-24.3(chr2:154366788-167048902)x3 copy number gain See cases [RCV000052950] Chr2:154366788..167048902 [GRCh38]
Chr2:155223300..167905412 [GRCh37]
Chr2:154931546..167613658 [NCBI36]
Chr2:2q24.1-24.3
pathogenic
GRCh38/hg38 2q24.3(chr2:163455290-166962322)x1 copy number loss See cases [RCV000054119] Chr2:163455290..166962322 [GRCh38]
Chr2:164311800..167818832 [GRCh37]
Chr2:164020046..167527078 [NCBI36]
Chr2:2q24.3
pathogenic
GRCh38/hg38 2q24.3-32.1(chr2:163965382-182195062)x1 copy number loss See cases [RCV000054122] Chr2:163965382..182195062 [GRCh38]
Chr2:164821892..183059789 [GRCh37]
Chr2:164530138..182768034 [NCBI36]
Chr2:2q24.3-32.1
pathogenic
GRCh38/hg38 2q24.3-31.1(chr2:164066038-172097886)x1 copy number loss See cases [RCV000054123] Chr2:164066038..172097886 [GRCh38]
Chr2:164922548..172962614 [GRCh37]
Chr2:164630794..172670860 [NCBI36]
Chr2:2q24.3-31.1
pathogenic
GRCh38/hg38 2q24.3-31.1(chr2:165209651-169567892)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054124]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054124]|See cases [RCV000054124] Chr2:165209651..169567892 [GRCh38]
Chr2:166066161..170424402 [GRCh37]
Chr2:165774407..170132648 [NCBI36]
Chr2:2q24.3-31.1
pathogenic
NM_024753.5(TTC21B):c.2240A>G (p.Gln747Arg) single nucleotide variant not provided [RCV000087238] Chr2:165912596 [GRCh38]
Chr2:166769106 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_024753.5(TTC21B):c.1417C>T (p.Leu473Phe) single nucleotide variant Asphyxiating thoracic dystrophy 4 [RCV000401778]|Jeune thoracic dystrophy [RCV000477470]|Nephronophthisis 12 [RCV000280317]|none provided [RCV001283023]|not provided [RCV001573002]|not specified [RCV000082210] Chr2:165924648 [GRCh38]
Chr2:166781158 [GRCh37]
Chr2:2q24.3
benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_024753.5(TTC21B):c.2385G>C (p.Leu795=) single nucleotide variant Asphyxiating thoracic dystrophy 4 [RCV000311489]|Jeune thoracic dystrophy [RCV000461313]|Nephronophthisis 12 [RCV000275348]|none provided [RCV001286897]|not specified [RCV000082211] Chr2:165911403 [GRCh38]
Chr2:166767913 [GRCh37]
Chr2:2q24.3
benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_024753.5(TTC21B):c.114C>G (p.Val38=) single nucleotide variant Asphyxiating thoracic dystrophy 4 [RCV001129047]|Jeune thoracic dystrophy [RCV000634202]|Nephronophthisis 12 [RCV001129046]|none provided [RCV001282679]|not specified [RCV000118720] Chr2:165949632 [GRCh38]
Chr2:166806142 [GRCh37]
Chr2:2q24.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_024753.5(TTC21B):c.1387C>T (p.Pro463Ser) single nucleotide variant Asphyxiating thoracic dystrophy 4 [RCV000407714]|Jeune thoracic dystrophy [RCV001085824]|Nephronophthisis 12 [RCV000335415]|none provided [RCV001282678]|not provided [RCV000420642]|not specified [RCV000118721] Chr2:165924678 [GRCh38]
Chr2:166781188 [GRCh37]
Chr2:2q24.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_024753.5(TTC21B):c.1695C>T (p.Tyr565=) single nucleotide variant Asphyxiating thoracic dystrophy 4 [RCV000260738]|Jeune thoracic dystrophy [RCV000860337]|Nephronophthisis 12 [RCV000301142]|not specified [RCV000118722] Chr2:165917461 [GRCh38]
Chr2:166773971 [GRCh37]
Chr2:2q24.3
benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_024753.5(TTC21B):c.1846C>T (p.Arg616Cys) single nucleotide variant Asphyxiating thoracic dystrophy 4 [RCV000407344]|Jeune thoracic dystrophy [RCV001080770]|Nephronophthisis 12 [RCV000349862]|none provided [RCV001282457]|not provided [RCV000118723]|not specified [RCV000244338] Chr2:165917310 [GRCh38]
Chr2:166773820 [GRCh37]
Chr2:2q24.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024753.5(TTC21B):c.2175T>C (p.Phe725=) single nucleotide variant Asphyxiating thoracic dystrophy 4 [RCV000378916]|Jeune thoracic dystrophy [RCV000860336]|Nephronophthisis 12 [RCV000342863]|not specified [RCV000118724] Chr2:165913610 [GRCh38]
Chr2:166770120 [GRCh37]
Chr2:2q24.3
benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_024753.5(TTC21B):c.2334C>T (p.Tyr778=) single nucleotide variant Asphyxiating thoracic dystrophy 4 [RCV000370868]|Jeune thoracic dystrophy [RCV000527028]|Nephronophthisis 12 [RCV000276462]|none provided [RCV001286478]|not specified [RCV000118725] Chr2:165911454 [GRCh38]
Chr2:166767964 [GRCh37]
Chr2:2q24.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_024753.5(TTC21B):c.2742C>T (p.Cys914=) single nucleotide variant Asphyxiating thoracic dystrophy 4 [RCV001131236]|Jeune thoracic dystrophy [RCV001081969]|Nephronophthisis 12 [RCV001131235]|none provided [RCV000755418]|not specified [RCV000118726] Chr2:165901737 [GRCh38]
Chr2:166758247 [GRCh37]
Chr2:2q24.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_024753.5(TTC21B):c.3519T>C (p.Thr1173=) single nucleotide variant Asphyxiating thoracic dystrophy 4 [RCV000265879]|Jeune thoracic dystrophy [RCV000756831]|Nephronophthisis 12 [RCV000328253]|none provided [RCV001282605]|not specified [RCV000118727] Chr2:165883959 [GRCh38]
Chr2:166740469 [GRCh37]
Chr2:2q24.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_024753.5(TTC21B):c.3797C>T (p.Pro1266Leu) single nucleotide variant Asphyxiating thoracic dystrophy 4 [RCV001131125]|Jeune thoracic dystrophy [RCV001078717]|Nephronophthisis 12 [RCV001131126]|not provided [RCV000118728] Chr2:165880687 [GRCh38]
Chr2:166737197 [GRCh37]
Chr2:2q24.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024753.5(TTC21B):c.601G>A (p.Val201Met) single nucleotide variant Asphyxiating thoracic dystrophy 4 [RCV000332739]|Jeune thoracic dystrophy [RCV000860057]|Nephronophthisis 12 [RCV000373358]|not specified [RCV000118729] Chr2:165941136 [GRCh38]
Chr2:166797646 [GRCh37]
Chr2:2q24.3
benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_024753.5(TTC21B):c.665A>T (p.Gln222Leu) single nucleotide variant Asphyxiating thoracic dystrophy 4 [RCV000386132]|Jeune thoracic dystrophy [RCV001086745]|Nephronophthisis 12 [RCV000296525]|none provided [RCV000755417]|not provided [RCV001573936]|not specified [RCV000118730] Chr2:165941072 [GRCh38]
Chr2:166797582 [GRCh37]
Chr2:2q24.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_024753.5(TTC21B):c.724G>A (p.Asp242Asn) single nucleotide variant Asphyxiating thoracic dystrophy 4 [RCV000331562]|Jeune thoracic dystrophy [RCV001083272]|Nephronophthisis 12 [RCV000271787]|not provided [RCV001573696]|not specified [RCV000251249] Chr2:165933044 [GRCh38]
Chr2:166789554 [GRCh37]
Chr2:2q24.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024753.5(TTC21B):c.826A>G (p.Thr276Ala) single nucleotide variant Asphyxiating thoracic dystrophy 4 [RCV000306035]|Jeune thoracic dystrophy [RCV000860056]|Nephronophthisis 12 [RCV000407620]|not specified [RCV000118732] Chr2:165931826 [GRCh38]
Chr2:166788336 [GRCh37]
Chr2:2q24.3
benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_024753.5(TTC21B):c.838A>G (p.Met280Val) single nucleotide variant Asphyxiating thoracic dystrophy 4 [RCV000300296]|Jeune thoracic dystrophy [RCV001079775]|Nephronophthisis 12 [RCV000359707]|none provided [RCV000755416]|not provided [RCV001573083]|not specified [RCV000118733] Chr2:165931814 [GRCh38]
Chr2:166788324 [GRCh37]
Chr2:2q24.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_024753.5(TTC21B):c.368G>A (p.Arg123His) single nucleotide variant Asphyxiating thoracic dystrophy 4 [RCV001331345] Chr2:165945585 [GRCh38]
Chr2:166802095 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_024753.5(TTC21B):c.629G>A (p.Ser210Asn) single nucleotide variant Nephronophthisis 12 [RCV001331346] Chr2:165941108 [GRCh38]
Chr2:166797618 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_024753.5(TTC21B):c.2569-10dup duplication Jeune thoracic dystrophy [RCV000345663]|Jeune thoracic dystrophy [RCV000461746]|Joubert syndrome [RCV000393987]|none provided [RCV001283154]|not specified [RCV000176115] Chr2:165901914..165901915 [GRCh38]
Chr2:166758424..166758425 [GRCh37]
Chr2:2q24.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_024753.5(TTC21B):c.3004C>G (p.Leu1002Val) single nucleotide variant Asphyxiating thoracic dystrophy 4 [RCV001135581]|Chronic kidney disease [RCV001171333]|Jeune thoracic dystrophy [RCV001085304]|Joubert syndrome 1 [RCV000986865]|Nephronophthisis 12 [RCV001135582]|none provided [RCV001283441]|not provided [RCV000415806]|not specified [RCV000176426] Chr2:165890935 [GRCh38]
Chr2:166747445 [GRCh37]
Chr2:2q24.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024753.5(TTC21B):c.2209G>T (p.Glu737Ter) single nucleotide variant not provided [RCV001291578] Chr2:165913576 [GRCh38]
Chr2:166770086 [GRCh37]
Chr2:2q24.3
likely pathogenic
NM_024753.5(TTC21B):c.2731C>G (p.Leu911Val) single nucleotide variant Nephronophthisis 12 [RCV001331343] Chr2:165901748 [GRCh38]
Chr2:166758258 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_024753.5(TTC21B):c.1358T>A (p.Met453Lys) single nucleotide variant not provided [RCV000174167] Chr2:165929163 [GRCh38]
Chr2:166785673 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_024753.5(TTC21B):c.1697A>G (p.His566Arg) single nucleotide variant Asphyxiating thoracic dystrophy 4 [RCV000764280]|Asphyxiating thoracic dystrophy 4 [RCV001134339]|Jeune thoracic dystrophy [RCV001078741]|Nephronophthisis 12 [RCV000755750]|not provided [RCV000174799] Chr2:165917459 [GRCh38]
Chr2:166773969 [GRCh37]
Chr2:2q24.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh38/hg38 2q24.3(chr2:164920562-167536439)x3 copy number gain See cases [RCV000133953] Chr2:164920562..167536439 [GRCh38]
Chr2:165777072..168392949 [GRCh37]
Chr2:165485318..168101195 [NCBI36]
Chr2:2q24.3
pathogenic
NM_024753.5(TTC21B):c.2168G>A (p.Arg723Gln) single nucleotide variant Jeune thoracic dystrophy [RCV000695456]|not provided [RCV000175100] Chr2:165913617 [GRCh38]
Chr2:166770127 [GRCh37]
Chr2:2q24.3
uncertain significance
GRCh38/hg38 2q24.3(chr2:165542113-166137050)x3 copy number gain See cases [RCV000135461] Chr2:165542113..166137050 [GRCh38]
Chr2:166398623..166993560 [GRCh37]
Chr2:166106869..166701806 [NCBI36]
Chr2:2q24.3
uncertain significance
GRCh38/hg38 2q24.3(chr2:165888312-166185811)x1 copy number loss See cases [RCV000137068] Chr2:165888312..166185811 [GRCh38]
Chr2:166744822..167042321 [GRCh37]
Chr2:166453068..166750567 [NCBI36]
Chr2:2q24.3
pathogenic|uncertain significance
GRCh38/hg38 2q24.3(chr2:165238425-166114982)x1 copy number loss See cases [RCV000141780] Chr2:165238425..166114982 [GRCh38]
Chr2:166094935..166971492 [GRCh37]
Chr2:165803181..166679738 [NCBI36]
Chr2:2q24.3
pathogenic
GRCh38/hg38 2q24.1-31.1(chr2:154294042-175989372)x3 copy number gain See cases [RCV000142286] Chr2:154294042..175989372 [GRCh38]
Chr2:155150555..176854100 [GRCh37]
Chr2:154858801..176562346 [NCBI36]
Chr2:2q24.1-31.1
pathogenic
GRCh38/hg38 2q24.3(chr2:165222998-166664612)x1 copy number loss See cases [RCV000143388] Chr2:165222998..166664612 [GRCh38]
Chr2:166079508..167521122 [GRCh37]
Chr2:165787754..167229368 [NCBI36]
Chr2:2q24.3
pathogenic
NM_024753.5(TTC21B):c.2587C>T (p.Arg863Trp) single nucleotide variant Asphyxiating thoracic dystrophy 4 [RCV000398651]|Jeune thoracic dystrophy [RCV000634201]|Nephronophthisis 12 [RCV000304805]|none provided [RCV001000398]|not provided [RCV000509503] Chr2:165901892 [GRCh38]
Chr2:166758402 [GRCh37]
Chr2:2q24.3
uncertain significance|not provided
NM_024753.5(TTC21B):c.691A>T (p.Thr231Ser) single nucleotide variant Asphyxiating thoracic dystrophy 4 [RCV001132638]|Jeune thoracic dystrophy [RCV001087340]|Joubert syndrome 1 [RCV000986867]|Nephronophthisis 12 [RCV001132639]|not provided [RCV000724482]|not specified [RCV000179530] Chr2:165941046 [GRCh38]
Chr2:166797556 [GRCh37]
Chr2:2q24.3
pathogenic|benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024753.5(TTC21B):c.796-3T>C single nucleotide variant not provided [RCV000180372] Chr2:165931859 [GRCh38]
Chr2:166788369 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_024753.5(TTC21B):c.3264-3C>G single nucleotide variant Jeune thoracic dystrophy [RCV001369448]|not provided [RCV000176591] Chr2:165888477 [GRCh38]
Chr2:166744987 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_024753.5(TTC21B):c.3914A>G (p.Asp1305Gly) single nucleotide variant Asphyxiating thoracic dystrophy 4 [RCV000407838]|Jeune thoracic dystrophy [RCV000861564]|Nephronophthisis 12 [RCV000297705] Chr2:165874792 [GRCh38]
Chr2:166731302 [GRCh37]
Chr2:2q24.3
benign|uncertain significance
NM_024753.4(TTC21B):c.-107C>T single nucleotide variant Jeune thoracic dystrophy [RCV000260422]|Joubert syndrome [RCV000355105] Chr2:165953812 [GRCh38]
Chr2:166810322 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_024753.5(TTC21B):c.*516C>T single nucleotide variant Asphyxiating thoracic dystrophy 4 [RCV000260703]|Nephronophthisis 12 [RCV000323078] Chr2:165874239 [GRCh38]
Chr2:166730749 [GRCh37]
Chr2:2q24.3
likely benign|uncertain significance
NM_024753.5(TTC21B):c.-17C>T single nucleotide variant Asphyxiating thoracic dystrophy 4 [RCV000260659]|Nephronophthisis 12 [RCV000316010] Chr2:165953722 [GRCh38]
Chr2:166810232 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_024753.5(TTC21B):c.1478A>G (p.Gln493Arg) single nucleotide variant Asphyxiating thoracic dystrophy 4 [RCV000387321]|Nephronophthisis 12 [RCV000328279] Chr2:165924587 [GRCh38]
Chr2:166781097 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_024753.5(TTC21B):c.2815C>T (p.Arg939Trp) single nucleotide variant Asphyxiating thoracic dystrophy 4 [RCV000387559]|Nephronophthisis 12 [RCV000281585]|not provided [RCV000756834] Chr2:165899823 [GRCh38]
Chr2:166756333 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_024753.5(TTC21B):c.-18C>T single nucleotide variant Asphyxiating thoracic dystrophy 4 [RCV000262325]|Nephronophthisis 12 [RCV000375264] Chr2:165953723 [GRCh38]
Chr2:166810233 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_024753.5(TTC21B):c.19A>G (p.Lys7Glu) single nucleotide variant Asphyxiating thoracic dystrophy 4 [RCV000393968]|Jeune thoracic dystrophy [RCV000699701]|Nephronophthisis 12 [RCV000309123]|not provided [RCV001546922] Chr2:165953687 [GRCh38]
Chr2:166810197 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_024753.5(TTC21B):c.2167C>T (p.Arg723Trp) single nucleotide variant Jeune thoracic dystrophy [RCV000195783] Chr2:165913618 [GRCh38]
Chr2:166770128 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_024753.5(TTC21B):c.3158G>A (p.Arg1053His) single nucleotide variant Jeune thoracic dystrophy [RCV000197661] Chr2:165890584 [GRCh38]
Chr2:166747094 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_024753.5(TTC21B):c.684G>A (p.Trp228Ter) single nucleotide variant Jeune thoracic dystrophy [RCV000198427]|Jeune thoracic dystrophy [RCV001383380] Chr2:165941053 [GRCh38]
Chr2:166797563 [GRCh37]
Chr2:2q24.3
pathogenic
NM_024753.5(TTC21B):c.3223G>C (p.Val1075Leu) single nucleotide variant Asphyxiating thoracic dystrophy 4 [RCV001134079]|Jeune thoracic dystrophy [RCV000198827]|Nephronophthisis 12 [RCV001134078]|not provided [RCV000417538] Chr2:165890519 [GRCh38]
Chr2:166747029 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_024753.5(TTC21B):c.14A>C (p.Glu5Ala) single nucleotide variant Asphyxiating thoracic dystrophy 4 [RCV000273798]|Nephronophthisis 12 [RCV000368451] Chr2:165953692 [GRCh38]
Chr2:166810202 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_024753.4(TTC21B):c.-82C>G single nucleotide variant Jeune thoracic dystrophy [RCV000288189]|Joubert syndrome [RCV000382668] Chr2:165953787 [GRCh38]
Chr2:166810297 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_024753.5(TTC21B):c.1578T>C (p.Ala526=) single nucleotide variant Asphyxiating thoracic dystrophy 4 [RCV000267097]|Nephronophthisis 12 [RCV000326837] Chr2:165919372 [GRCh38]
Chr2:166775882 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_024753.5(TTC21B):c.3042A>G (p.Lys1014=) single nucleotide variant Asphyxiating thoracic dystrophy 4 [RCV000269549]|Nephronophthisis 12 [RCV000366523] Chr2:165890897 [GRCh38]
Chr2:166747407 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_024753.5(TTC21B):c.2472G>A (p.Leu824=) single nucleotide variant Asphyxiating thoracic dystrophy 4 [RCV000365262]|Jeune thoracic dystrophy [RCV001477199]|Nephronophthisis 12 [RCV000310489]|none provided [RCV001001081]|not provided [RCV000842292] Chr2:165907774 [GRCh38]
Chr2:166764284 [GRCh37]
Chr2:2q24.3
likely benign|uncertain significance
NM_024753.5(TTC21B):c.2259G>A (p.Pro753=) single nucleotide variant Asphyxiating thoracic dystrophy 4 [RCV000371840]|Nephronophthisis 12 [RCV000317496]|not provided [RCV000869167] Chr2:165912577 [GRCh38]
Chr2:166769087 [GRCh37]
Chr2:2q24.3
likely benign|uncertain significance
NM_024753.5(TTC21B):c.2322+3A>G single nucleotide variant Asphyxiating thoracic dystrophy 4 [RCV001135708]|Jeune thoracic dystrophy [RCV000204934]|Joubert syndrome 1 [RCV000986866]|Nephronophthisis 12 [RCV001135707]|none provided [RCV001283575]|not provided [RCV001573219]|not specified [RCV000239097] Chr2:165912511 [GRCh38]
Chr2:166769021 [GRCh37]
Chr2:2q24.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_024753.5(TTC21B):c.3932G>A (p.Arg1311His) single nucleotide variant Asphyxiating thoracic dystrophy 4 [RCV001135464]|Jeune thoracic dystrophy [RCV000205446]|Nephronophthisis 12 [RCV001135465]|not provided [RCV000282631] Chr2:165874774 [GRCh38]
Chr2:166731284 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_024753.5(TTC21B):c.1320del (p.Phe440fs) deletion Retinal dystrophy [RCV001074968]|Type IV short rib polydactyly syndrome [RCV000516032] Chr2:165929201 [GRCh38]
Chr2:166785711 [GRCh37]
Chr2:2q24.3
pathogenic|likely pathogenic
NM_024753.5(TTC21B):c.2078_2087del (p.Lys693fs) deletion not provided [RCV000722269] Chr2:165915252..165915261 [GRCh38]
Chr2:166771762..166771771 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_024753.5(TTC21B):c.2757+37C>G single nucleotide variant not provided [RCV001571067] Chr2:165901685 [GRCh38]
Chr2:166758195 [GRCh37]
Chr2:2q24.3
likely benign
NM_024753.5(TTC21B):c.19_20insGCGGGTG (p.Lys7delinsSerGlyTer) insertion Short rib-polydactyly syndrome, Majewski type [RCV000516079] Chr2:165953686..165953687 [GRCh38]
Chr2:166810196..166810197 [GRCh37]
Chr2:2q24.3
likely pathogenic
NM_024753.5(TTC21B):c.131C>A (p.Ala44Asp) single nucleotide variant Short rib-polydactyly syndrome, Majewski type [RCV000516137] Chr2:165949615 [GRCh38]
Chr2:166806125 [GRCh37]
Chr2:2q24.3
pathogenic|likely pathogenic
NM_024753.5(TTC21B):c.1571C>G (p.Ser524Cys) single nucleotide variant Asphyxiating thoracic dystrophy 4 [RCV000381428]|Jeune thoracic dystrophy [RCV000232609]|Nephronophthisis 12 [RCV000291957]|none provided [RCV001285120]|not specified [RCV000252896] Chr2:165919379 [GRCh38]
Chr2:166775889 [GRCh37]
Chr2:2q24.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024753.5(TTC21B):c.1609T>C (p.Leu537=) single nucleotide variant Asphyxiating thoracic dystrophy 4 [RCV000321086]|Nephronophthisis 12 [RCV000361542] Chr2:165919341 [GRCh38]
Chr2:166775851 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_024753.5(TTC21B):c.795+3A>G single nucleotide variant Asphyxiating thoracic dystrophy 4 [RCV000360819]|Jeune thoracic dystrophy [RCV001326971]|Nephronophthisis 12 [RCV000270836] Chr2:165932970 [GRCh38]
Chr2:166789480 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_024753.5(TTC21B):c.2895A>T (p.Lys965Asn) single nucleotide variant Asphyxiating thoracic dystrophy 4 [RCV000330744]|Jeune thoracic dystrophy [RCV000465241]|Nephronophthisis 12 [RCV000277941] Chr2:165898741 [GRCh38]
Chr2:166755251 [GRCh37]
Chr2:2q24.3
likely benign|uncertain significance
NM_024753.5(TTC21B):c.38A>G (p.Tyr13Cys) single nucleotide variant Asphyxiating thoracic dystrophy 4 [RCV000307880]|Nephronophthisis 12 [RCV000362630] Chr2:165949708 [GRCh38]
Chr2:166806218 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_024753.5(TTC21B):c.481A>G (p.Thr161Ala) single nucleotide variant Asphyxiating thoracic dystrophy 4 [RCV000336979]|Jeune thoracic dystrophy [RCV001520464]|Nephronophthisis 12 [RCV000278829] Chr2:165943290 [GRCh38]
Chr2:166799800 [GRCh37]
Chr2:2q24.3
benign|uncertain significance
NM_024753.5(TTC21B):c.1732G>C (p.Glu578Gln) single nucleotide variant Asphyxiating thoracic dystrophy 4 [RCV000314823]|Nephronophthisis 12 [RCV000369402] Chr2:165917424 [GRCh38]
Chr2:166773934 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_024753.5(TTC21B):c.2777G>A (p.Arg926Gln) single nucleotide variant Asphyxiating thoracic dystrophy 4 [RCV000334319]|Nephronophthisis 12 [RCV000372660] Chr2:165899861 [GRCh38]
Chr2:166756371 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_024753.5(TTC21B):c.2100G>A (p.Lys700=) single nucleotide variant Asphyxiating thoracic dystrophy 4 [RCV000343584]|Nephronophthisis 12 [RCV000289163]|not provided [RCV000861100] Chr2:165915239 [GRCh38]
Chr2:166771749 [GRCh37]
Chr2:2q24.3
benign|uncertain significance
NM_024753.5(TTC21B):c.2227G>A (p.Val743Ile) single nucleotide variant Asphyxiating thoracic dystrophy 4 [RCV000318231]|Jeune thoracic dystrophy [RCV000634198]|Nephronophthisis 12 [RCV000263172]|not provided [RCV000756833] Chr2:165912609 [GRCh38]
Chr2:166769119 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_024753.5(TTC21B):c.1870A>G (p.Ile624Val) single nucleotide variant Asphyxiating thoracic dystrophy 4 [RCV000309034]|Jeune thoracic dystrophy [RCV001085825]|Nephronophthisis 12 [RCV000400306]|none provided [RCV000755419]|not provided [RCV000428600] Chr2:165917286 [GRCh38]
Chr2:166773796 [GRCh37]
Chr2:2q24.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 2q24.1-31.3(chr2:156489430-182921298)x3 copy number gain See cases [RCV000239848] Chr2:156489430..182921298 [GRCh37]
Chr2:2q24.1-31.3
pathogenic
NM_024753.5(TTC21B):c.1448C>A (p.Thr483Asn) single nucleotide variant Asphyxiating thoracic dystrophy 4 [RCV000352777]|Jeune thoracic dystrophy [RCV001221413]|Nephronophthisis 12 [RCV000293109]|not provided [RCV001547775] Chr2:165924617 [GRCh38]
Chr2:166781127 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_024753.5(TTC21B):c.3873+10T>A single nucleotide variant Asphyxiating thoracic dystrophy 4 [RCV000354869]|Nephronophthisis 12 [RCV000407794] Chr2:165876155 [GRCh38]
Chr2:166732665 [GRCh37]
Chr2:2q24.3
uncertain significance
GRCh37/hg19 2q24.3(chr2:166094617-166931348)x3 copy number gain See cases [RCV000240508] Chr2:166094617..166931348 [GRCh37]
Chr2:2q24.3
pathogenic
NM_024753.5(TTC21B):c.1867T>C (p.Leu623=) single nucleotide variant Jeune thoracic dystrophy [RCV000864460]|not provided [RCV001551087]|not specified [RCV000248511] Chr2:165917289 [GRCh38]
Chr2:166773799 [GRCh37]
Chr2:2q24.3
benign|likely benign
NM_024753.5(TTC21B):c.*642C>T single nucleotide variant Asphyxiating thoracic dystrophy 4 [RCV000284735]|Nephronophthisis 12 [RCV000376921] Chr2:165874113 [GRCh38]
Chr2:166730623 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_024753.5(TTC21B):c.3084T>C (p.Cys1028=) single nucleotide variant not specified [RCV000248690] Chr2:165890855 [GRCh38]
Chr2:166747365 [GRCh37]
Chr2:2q24.3
likely benign
NM_024753.5(TTC21B):c.2014C>T (p.Arg672Trp) single nucleotide variant Jeune thoracic dystrophy [RCV000516123]|not specified [RCV000253498] Chr2:165915325 [GRCh38]
Chr2:166771835 [GRCh37]
Chr2:2q24.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024753.5(TTC21B):c.*847A>C single nucleotide variant Asphyxiating thoracic dystrophy 4 [RCV000274449]|Nephronophthisis 12 [RCV000330797] Chr2:165873908 [GRCh38]
Chr2:166730418 [GRCh37]
Chr2:2q24.3
likely benign|uncertain significance
NM_024753.5(TTC21B):c.2161A>C (p.Asn721His) single nucleotide variant Jeune thoracic dystrophy [RCV000864459]|not provided [RCV001557493]|not specified [RCV000248837] Chr2:165913624 [GRCh38]
Chr2:166770134 [GRCh37]
Chr2:2q24.3
likely benign
NM_024753.5(TTC21B):c.1650A>G (p.Glu550=) single nucleotide variant Asphyxiating thoracic dystrophy 4 [RCV000355902]|Jeune thoracic dystrophy [RCV000537482]|Nephronophthisis 12 [RCV000265946]|not provided [RCV001538305]|not specified [RCV000244055] Chr2:165919300 [GRCh38]
Chr2:166775810 [GRCh37]
Chr2:2q24.3
likely benign|uncertain significance
NM_024753.5(TTC21B):c.1676T>G (p.Val559Gly) single nucleotide variant Asphyxiating thoracic dystrophy 4 [RCV001135808]|Jeune thoracic dystrophy [RCV001418739]|Nephronophthisis 12 [RCV001135809]|not provided [RCV000861850]|not specified [RCV000249020] Chr2:165917480 [GRCh38]
Chr2:166773990 [GRCh37]
Chr2:2q24.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_024753.5(TTC21B):c.549T>C (p.Gly183=) single nucleotide variant not provided [RCV000725867]|not specified [RCV000249310] Chr2:165943222 [GRCh38]
Chr2:166799732 [GRCh37]
Chr2:2q24.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024753.5(TTC21B):c.2950+16T>C single nucleotide variant Jeune thoracic dystrophy [RCV001512534]|none provided [RCV001285283]|not specified [RCV000251733] Chr2:165898670 [GRCh38]
Chr2:166755180 [GRCh37]
Chr2:2q24.3
benign
NM_024753.5(TTC21B):c.*910C>T single nucleotide variant Asphyxiating thoracic dystrophy 4 [RCV000270951]|Nephronophthisis 12 [RCV000362974] Chr2:165873845 [GRCh38]
Chr2:166730355 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_024753.5(TTC21B):c.3416T>C (p.Val1139Ala) single nucleotide variant Jeune thoracic dystrophy [RCV000861670]|none provided [RCV001289666]|not specified [RCV000252032] Chr2:165888322 [GRCh38]
Chr2:166744832 [GRCh37]
Chr2:2q24.3
benign|likely benign
NM_024753.5(TTC21B):c.2600G>A (p.Arg867His) single nucleotide variant Asphyxiating thoracic dystrophy 4 [RCV001134203]|Jeune thoracic dystrophy [RCV000861928]|Nephronophthisis 12 [RCV001134204]|none provided [RCV001283299]|not specified [RCV000252244] Chr2:165901879 [GRCh38]
Chr2:166758389 [GRCh37]
Chr2:2q24.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024753.5(TTC21B):c.2682T>G (p.Ser894=) single nucleotide variant not specified [RCV000242606] Chr2:165901797 [GRCh38]
Chr2:166758307 [GRCh37]
Chr2:2q24.3
likely benign
NM_024753.5(TTC21B):c.2211+13A>G single nucleotide variant Asphyxiating thoracic dystrophy 4 [RCV000283220]|Jeune thoracic dystrophy [RCV001512535]|Nephronophthisis 12 [RCV000377557]|not specified [RCV000245046] Chr2:165913561 [GRCh38]
Chr2:166770071 [GRCh37]
Chr2:2q24.3
benign|likely benign
NM_024753.5(TTC21B):c.231G>A (p.Leu77=) single nucleotide variant not specified [RCV000250024] Chr2:165949425 [GRCh38]
Chr2:166805935 [GRCh37]
Chr2:2q24.3
likely benign
NM_024753.5(TTC21B):c.429+6T>C single nucleotide variant Jeune thoracic dystrophy [RCV001319589]|not specified [RCV000245172] Chr2:165945518 [GRCh38]
Chr2:166802028 [GRCh37]
Chr2:2q24.3
likely benign|uncertain significance
NM_024753.5(TTC21B):c.1386+15G>A single nucleotide variant not provided [RCV000841343]|not specified [RCV000252582] Chr2:165929120 [GRCh38]
Chr2:166785630 [GRCh37]
Chr2:2q24.3
likely benign
NM_024753.5(TTC21B):c.2462-19A>C single nucleotide variant Jeune thoracic dystrophy [RCV001522969]|none provided [RCV001287267]|not specified [RCV000243084] Chr2:165907803 [GRCh38]
Chr2:166764313 [GRCh37]
Chr2:2q24.3
benign
NM_024753.5(TTC21B):c.2138+15T>C single nucleotide variant not specified [RCV000245507] Chr2:165915186 [GRCh38]
Chr2:166771696 [GRCh37]
Chr2:2q24.3
likely benign
NM_024753.5(TTC21B):c.3519T>G (p.Thr1173=) single nucleotide variant Asphyxiating thoracic dystrophy 4 [RCV000358176]|Jeune thoracic dystrophy [RCV000756832]|Nephronophthisis 12 [RCV000305694]|none provided [RCV001283397]|not provided [RCV001311939]|not specified [RCV000248204] Chr2:165883959 [GRCh38]
Chr2:166740469 [GRCh37]
Chr2:2q24.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024753.5(TTC21B):c.960C>G (p.Asn320Lys) single nucleotide variant not provided [RCV001570982]|not specified [RCV000250774] Chr2:165930299 [GRCh38]
Chr2:166786809 [GRCh37]
Chr2:2q24.3
likely benign|uncertain significance
NM_024753.5(TTC21B):c.3552G>A (p.Ala1184=) single nucleotide variant not provided [RCV000868339]|not specified [RCV000253186] Chr2:165883926 [GRCh38]
Chr2:166740436 [GRCh37]
Chr2:2q24.3
likely benign
NM_024753.5(TTC21B):c.*246G>A single nucleotide variant Asphyxiating thoracic dystrophy 4 [RCV000352081]|Nephronophthisis 12 [RCV000402005] Chr2:165874509 [GRCh38]
Chr2:166731019 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_024753.5(TTC21B):c.*517G>A single nucleotide variant Asphyxiating thoracic dystrophy 4 [RCV000353229]|Nephronophthisis 12 [RCV000300745] Chr2:165874238 [GRCh38]
Chr2:166730748 [GRCh37]
Chr2:2q24.3
benign|likely benign
NM_024753.5(TTC21B):c.*680C>T single nucleotide variant Asphyxiating thoracic dystrophy 4 [RCV000315737]|Nephronophthisis 12 [RCV000372730] Chr2:165874075 [GRCh38]
Chr2:166730585 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_024753.5(TTC21B):c.*105G>A single nucleotide variant Asphyxiating thoracic dystrophy 4 [RCV000337421]|Nephronophthisis 12 [RCV000293674]|not provided [RCV001540655] Chr2:165874650 [GRCh38]
Chr2:166731160 [GRCh37]
Chr2:2q24.3
benign|likely benign
NM_024753.5(TTC21B):c.*460T>C single nucleotide variant Asphyxiating thoracic dystrophy 4 [RCV000383043]|Nephronophthisis 12 [RCV000321951] Chr2:165874295 [GRCh38]
Chr2:166730805 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_024753.5(TTC21B):c.*1105G>T single nucleotide variant Asphyxiating thoracic dystrophy 4 [RCV000341077]|Nephronophthisis 12 [RCV000302260] Chr2:165873650 [GRCh38]
Chr2:166730160 [GRCh37]
Chr2:2q24.3
benign|likely benign
NM_024753.5(TTC21B):c.*473C>G single nucleotide variant Asphyxiating thoracic dystrophy 4 [RCV000361501]|Nephronophthisis 12 [RCV000264500] Chr2:165874282 [GRCh38]
Chr2:166730792 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_024753.4(TTC21B):c.-94C>T single nucleotide variant Jeune thoracic dystrophy [RCV000407286]|Joubert syndrome [RCV000314279] Chr2:165953799 [GRCh38]
Chr2:166810309 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_024753.5(TTC21B):c.*540T>C single nucleotide variant Asphyxiating thoracic dystrophy 4 [RCV000407455]|Nephronophthisis 12 [RCV000315092] Chr2:165874215 [GRCh38]
Chr2:166730725 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_024753.5(TTC21B):c.*656G>A single nucleotide variant Asphyxiating thoracic dystrophy 4 [RCV000324691]|Nephronophthisis 12 [RCV000286088] Chr2:165874099 [GRCh38]
Chr2:166730609 [GRCh37]
Chr2:2q24.3
likely benign|uncertain significance
NM_024753.5(TTC21B):c.*544A>G single nucleotide variant Asphyxiating thoracic dystrophy 4 [RCV000345381]|Nephronophthisis 12 [RCV000288243] Chr2:165874211 [GRCh38]
Chr2:166730721 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_024753.5(TTC21B):c.*531A>G single nucleotide variant Asphyxiating thoracic dystrophy 4 [RCV000367451]|Nephronophthisis 12 [RCV000407451] Chr2:165874224 [GRCh38]
Chr2:166730734 [GRCh37]
Chr2:2q24.3
benign|likely benign
NM_024753.4(TTC21B):c.-89C>G single nucleotide variant Jeune thoracic dystrophy [RCV000347852]|Joubert syndrome [RCV000401278] Chr2:165953794 [GRCh38]
Chr2:166810304 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_024753.5(TTC21B):c.*1087A>T single nucleotide variant Asphyxiating thoracic dystrophy 4 [RCV000393914]|Nephronophthisis 12 [RCV000310656] Chr2:165873668 [GRCh38]
Chr2:166730178 [GRCh37]
Chr2:2q24.3
likely benign|uncertain significance
NM_024753.5(TTC21B):c.*878A>G single nucleotide variant Asphyxiating thoracic dystrophy 4 [RCV000371240]|Nephronophthisis 12 [RCV000314395] Chr2:165873877 [GRCh38]
Chr2:166730387 [GRCh37]
Chr2:2q24.3
benign|likely benign
NM_024753.4(TTC21B):c.-91T>C single nucleotide variant Jeune thoracic dystrophy [RCV000312991]|Joubert syndrome [RCV000349232] Chr2:165953796 [GRCh38]
Chr2:166810306 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_024753.5(TTC21B):c.95G>A (p.Arg32Lys) single nucleotide variant Jeune thoracic dystrophy [RCV000399656]|Joubert syndrome [RCV000283143] Chr2:165949651 [GRCh38]
Chr2:166806161 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_024753.5(TTC21B):c.*730A>C single nucleotide variant Asphyxiating thoracic dystrophy 4 [RCV000373761]|Nephronophthisis 12 [RCV000262835] Chr2:165874025 [GRCh38]
Chr2:166730535 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_024753.5(TTC21B):c.2530A>G (p.Met844Val) single nucleotide variant Asphyxiating thoracic dystrophy 4 [RCV001134207]|Nephronophthisis 12 [RCV001134208]|not provided [RCV000360722] Chr2:165907716 [GRCh38]
Chr2:166764226 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_024753.5(TTC21B):c.1088-3T>C single nucleotide variant not provided [RCV000264477] Chr2:165929750 [GRCh38]
Chr2:166786260 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_024753.5(TTC21B):c.430-52A>G single nucleotide variant not provided [RCV001567325] Chr2:165943393 [GRCh38]
Chr2:166799903 [GRCh37]
Chr2:2q24.3
likely benign
NM_024753.5(TTC21B):c.796-245A>G single nucleotide variant not provided [RCV001548094] Chr2:165932101 [GRCh38]
Chr2:166788611 [GRCh37]
Chr2:2q24.3
likely benign
NM_024753.5(TTC21B):c.1516+201G>T single nucleotide variant not provided [RCV001575315] Chr2:165924348 [GRCh38]
Chr2:166780858 [GRCh37]
Chr2:2q24.3
likely benign
NM_024753.5(TTC21B):c.-16C>G single nucleotide variant Asphyxiating thoracic dystrophy 4 [RCV000314903]|Nephronophthisis 12 [RCV000369468] Chr2:165953721 [GRCh38]
Chr2:166810231 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_024753.4(TTC21B):c.-145G>A single nucleotide variant Jeune thoracic dystrophy [RCV000366143]|Joubert syndrome [RCV000309021]|not provided [RCV000835283] Chr2:165953850 [GRCh38]
Chr2:166810360 [GRCh37]
Chr2:2q24.3
benign
NM_024753.5(TTC21B):c.*593G>A single nucleotide variant Asphyxiating thoracic dystrophy 4 [RCV000401625]|Nephronophthisis 12 [RCV000346750] Chr2:165874162 [GRCh38]
Chr2:166730672 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_024753.5(TTC21B):c.*419C>A single nucleotide variant Asphyxiating thoracic dystrophy 4 [RCV000381964]|Nephronophthisis 12 [RCV000294912] Chr2:165874336 [GRCh38]
Chr2:166730846 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_024753.5(TTC21B):c.2622T>G (p.Asp874Glu) single nucleotide variant Asphyxiating thoracic dystrophy 4 [RCV000339918]|Nephronophthisis 12 [RCV000284964] Chr2:165901857 [GRCh38]
Chr2:166758367 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_024753.5(TTC21B):c.-64G>A single nucleotide variant Asphyxiating thoracic dystrophy 4 [RCV000322195]|Nephronophthisis 12 [RCV000376866] Chr2:165953769 [GRCh38]
Chr2:166810279 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_024753.5(TTC21B):c.3931C>T (p.Arg1311Cys) single nucleotide variant not provided [RCV000522338] Chr2:165874775 [GRCh38]
Chr2:166731285 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_024753.4(TTC21B):c.-75A>C single nucleotide variant Jeune thoracic dystrophy [RCV000286883]|Joubert syndrome [RCV000342113] Chr2:165953780 [GRCh38]
Chr2:166810290 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_024753.5(TTC21B):c.793A>C (p.Lys265Gln) single nucleotide variant Asphyxiating thoracic dystrophy 4 [RCV000366364]|Nephronophthisis 12 [RCV000325863] Chr2:165932975 [GRCh38]
Chr2:166789485 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_024753.5(TTC21B):c.2901C>G (p.Asp967Glu) single nucleotide variant Asphyxiating thoracic dystrophy 4 [RCV000326990]|Nephronophthisis 12 [RCV000388738] Chr2:165898735 [GRCh38]
Chr2:166755245 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_024753.5(TTC21B):c.*1123dup duplication Jeune thoracic dystrophy [RCV000341840]|Joubert syndrome [RCV000393925] Chr2:165873631..165873632 [GRCh38]
Chr2:166730141..166730142 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_024753.5(TTC21B):c.63T>C (p.His21=) single nucleotide variant Asphyxiating thoracic dystrophy 4 [RCV000342796]|Nephronophthisis 12 [RCV000402071] Chr2:165949683 [GRCh38]
Chr2:166806193 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_024753.5(TTC21B):c.*451G>C single nucleotide variant Asphyxiating thoracic dystrophy 4 [RCV000324995]|Nephronophthisis 12 [RCV000291013] Chr2:165874304 [GRCh38]
Chr2:166730814 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_024753.5(TTC21B):c.1231C>G (p.Arg411Gly) single nucleotide variant Jeune thoracic dystrophy [RCV001240289]|not provided [RCV000522845] Chr2:165929290 [GRCh38]
Chr2:166785800 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_024753.5(TTC21B):c.1088-1G>C single nucleotide variant Renal dysplasia and retinal aplasia [RCV001003235]|not provided [RCV000521037] Chr2:165929748 [GRCh38]
Chr2:166786258 [GRCh37]
Chr2:2q24.3
pathogenic|likely pathogenic
NM_024753.5(TTC21B):c.3397dup (p.Thr1133fs) duplication not provided [RCV000722610] Chr2:165888340..165888341 [GRCh38]
Chr2:166744850..166744851 [GRCh37]
Chr2:2q24.3
uncertain significance
NC_000002.12:g.(?_165874735)_(166311776_?)del deletion Early infantile epileptic encephalopathy with suppression bursts [RCV000539384] Chr2:165874735..166311776 [GRCh38]
Chr2:166731245..167168286 [GRCh37]
Chr2:2q24.3
pathogenic
GRCh37/hg19 2q24.2-24.3(chr2:163168812-167567296)x3 copy number gain See cases [RCV000447420] Chr2:163168812..167567296 [GRCh37]
Chr2:2q24.2-24.3
pathogenic
NM_024753.5(TTC21B):c.1116G>A (p.Gly372=) single nucleotide variant not specified [RCV000431259] Chr2:165929719 [GRCh38]
Chr2:166786229 [GRCh37]
Chr2:2q24.3
likely benign
NM_024753.5(TTC21B):c.1965G>A (p.Arg655=) single nucleotide variant Asphyxiating thoracic dystrophy 4 [RCV001131339]|Jeune thoracic dystrophy [RCV000526000]|Nephronophthisis 12 [RCV001131340]|none provided [RCV001287268]|not specified [RCV000428397] Chr2:165915374 [GRCh38]
Chr2:166771884 [GRCh37]
Chr2:2q24.3
benign
NM_024753.5(TTC21B):c.588T>G (p.Gly196=) single nucleotide variant Jeune thoracic dystrophy [RCV000861968]|not specified [RCV000429283] Chr2:165941149 [GRCh38]
Chr2:166797659 [GRCh37]
Chr2:2q24.3
benign|likely benign
NM_024753.5(TTC21B):c.2967A>G (p.Leu989=) single nucleotide variant not specified [RCV000440295] Chr2:165890972 [GRCh38]
Chr2:166747482 [GRCh37]
Chr2:2q24.3
likely benign
NM_024753.5(TTC21B):c.2777_2791del (p.Arg926_Ala930del) deletion not provided [RCV000483626] Chr2:165899847..165899861 [GRCh38]
Chr2:166756357..166756371 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_024753.5(TTC21B):c.3939T>C (p.Ser1313=) single nucleotide variant Jeune thoracic dystrophy [RCV001494745]|not provided [RCV000474710] Chr2:165874767 [GRCh38]
Chr2:166731277 [GRCh37]
Chr2:2q24.3
likely benign
NM_024753.5(TTC21B):c.21+2TGAGCGGG[6] microsatellite not specified [RCV000484273] Chr2:165953651..165953652 [GRCh38]
Chr2:166810161..166810162 [GRCh37]
Chr2:2q24.3
likely benign
NM_024753.5(TTC21B):c.3623T>G (p.Ile1208Ser) single nucleotide variant none provided [RCV001284980]|not provided [RCV000485259] Chr2:165883855 [GRCh38]
Chr2:166740365 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_024753.5(TTC21B):c.553-2A>G single nucleotide variant Jeune thoracic dystrophy [RCV001377359]|not provided [RCV000479541] Chr2:165941186 [GRCh38]
Chr2:166797696 [GRCh37]
Chr2:2q24.3
likely pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384) copy number gain See cases [RCV000512056] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
NM_024753.5(TTC21B):c.272C>A (p.Ala91Asp) single nucleotide variant Jeune thoracic dystrophy [RCV000458618] Chr2:165945681 [GRCh38]
Chr2:166802191 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_024753.5(TTC21B):c.1495G>A (p.Ala499Thr) single nucleotide variant Jeune thoracic dystrophy [RCV000515896]|not provided [RCV000498799] Chr2:165924570 [GRCh38]
Chr2:166781080 [GRCh37]
Chr2:2q24.3
pathogenic|likely pathogenic|uncertain significance
NM_024753.5(TTC21B):c.455A>C (p.Asp152Ala) single nucleotide variant Jeune thoracic dystrophy [RCV001372155]|not specified [RCV000504392] Chr2:165943316 [GRCh38]
Chr2:166799826 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_024753.5(TTC21B):c.3021_3025dup (p.Phe1009fs) duplication not specified [RCV000500708] Chr2:165890913..165890914 [GRCh38]
Chr2:166747423..166747424 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_024753.5(TTC21B):c.2569-11_2569-10dup duplication not specified [RCV000508243] Chr2:165901919..165901920 [GRCh38]
Chr2:166758429..166758430 [GRCh37]
Chr2:2q24.3
benign
NM_024753.5(TTC21B):c.3791C>T (p.Thr1264Ile) single nucleotide variant not specified [RCV000508307] Chr2:165880693 [GRCh38]
Chr2:166737203 [GRCh37]
Chr2:2q24.3
uncertain significance
GRCh37/hg19 2q24.3(chr2:166374955-169671203)x1 copy number loss See cases [RCV000511973] Chr2:166374955..169671203 [GRCh37]
Chr2:2q24.3
pathogenic
GRCh37/hg19 2q24.3(chr2:164366067-169069454)x1 copy number loss See cases [RCV000511424] Chr2:164366067..169069454 [GRCh37]
Chr2:2q24.3
pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3 copy number gain See cases [RCV000511212] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
GRCh37/hg19 2q24.3(chr2:166032047-168283204)x1 copy number loss See cases [RCV000511103] Chr2:166032047..168283204 [GRCh37]
Chr2:2q24.3
pathogenic
NC_000002.12:g.(?_165090130)_(166228992_?)del deletion Early infantile epileptic encephalopathy with suppression bursts [RCV000636624]|Hereditary sensory and autonomic neuropathy type IIA [RCV001387895] Chr2:165090130..166228992 [GRCh38]
Chr2:165946640..167085502 [GRCh37]
Chr2:2q24.3
pathogenic
NM_024753.5(TTC21B):c.2255A>G (p.Asn752Ser) single nucleotide variant Jeune thoracic dystrophy [RCV000534023]|Nephronophthisis 12 [RCV001336665] Chr2:165912581 [GRCh38]
Chr2:166769091 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_024753.5(TTC21B):c.2869-2A>G single nucleotide variant Jeune thoracic dystrophy [RCV000634200] Chr2:165898769 [GRCh38]
Chr2:166755279 [GRCh37]
Chr2:2q24.3
likely pathogenic
NM_024753.5(TTC21B):c.783G>T (p.Gly261=) single nucleotide variant Asphyxiating thoracic dystrophy 4 [RCV001131593]|Jeune thoracic dystrophy [RCV000634204]|Nephronophthisis 12 [RCV001131592]|not provided [RCV000827647] Chr2:165932985 [GRCh38]
Chr2:166789495 [GRCh37]
Chr2:2q24.3
benign|likely benign|uncertain significance
NM_024753.5(TTC21B):c.3114A>G (p.Glu1038=) single nucleotide variant Jeune thoracic dystrophy [RCV000539350] Chr2:165890628 [GRCh38]
Chr2:166747138 [GRCh37]
Chr2:2q24.3
likely benign
NM_024753.5(TTC21B):c.3713G>A (p.Gly1238Glu) single nucleotide variant Nephronophthisis 12 [RCV000590036] Chr2:165880771 [GRCh38]
Chr2:166737281 [GRCh37]
Chr2:2q24.3
uncertain significance
GRCh37/hg19 2q12.1-24.3(chr2:104172062-168223828)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000626436] Chr2:104172062..168223828 [GRCh37]
Chr2:2q12.1-24.3
drug response
NM_024753.5(TTC21B):c.262+16G>A single nucleotide variant Jeune thoracic dystrophy [RCV001522828]|none provided [RCV001289689]|not specified [RCV000602375] Chr2:165949378 [GRCh38]
Chr2:166805888 [GRCh37]
Chr2:2q24.3
benign|likely benign
NM_024753.5(TTC21B):c.3874-14T>C single nucleotide variant Asphyxiating thoracic dystrophy 4 [RCV001130403]|Jeune thoracic dystrophy [RCV001520867]|Nephronophthisis 12 [RCV001130402]|none provided [RCV001286051]|not specified [RCV000612511] Chr2:165874846 [GRCh38]
Chr2:166731356 [GRCh37]
Chr2:2q24.3
benign|likely benign|uncertain significance
NM_024753.5(TTC21B):c.3761A>G (p.Tyr1254Cys) single nucleotide variant Finnish congenital nephrotic syndrome [RCV000625666] Chr2:165880723 [GRCh38]
Chr2:166737233 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_024753.5(TTC21B):c.2568+15C>T single nucleotide variant not specified [RCV000610257] Chr2:165907663 [GRCh38]
Chr2:166764173 [GRCh37]
Chr2:2q24.3
likely benign
NM_024753.5(TTC21B):c.114C>T (p.Val38=) single nucleotide variant not specified [RCV000610537] Chr2:165949632 [GRCh38]
Chr2:166806142 [GRCh37]
Chr2:2q24.3
likely benign
GRCh37/hg19 2q24.3-31.1(chr2:165173620-169779326)x1 copy number loss not provided [RCV000585557] Chr2:165173620..169779326 [GRCh37]
Chr2:2q24.3-31.1
likely pathogenic
NM_024753.5(TTC21B):c.3495G>A (p.Thr1165=) single nucleotide variant not specified [RCV000610867] Chr2:165883983 [GRCh38]
Chr2:166740493 [GRCh37]
Chr2:2q24.3
likely benign
NM_024753.5(TTC21B):c.553-20C>G single nucleotide variant Jeune thoracic dystrophy [RCV001400503]|not specified [RCV000614226] Chr2:165941204 [GRCh38]
Chr2:166797714 [GRCh37]
Chr2:2q24.3
likely benign
NM_024753.5(TTC21B):c.1643C>G (p.Ser548Cys) single nucleotide variant Jeune thoracic dystrophy [RCV000558165] Chr2:165919307 [GRCh38]
Chr2:166775817 [GRCh37]
Chr2:2q24.3
uncertain significance
GRCh37/hg19 2q24.1-24.3(chr2:157970774-169270675)x1 copy number loss See cases [RCV000512264] Chr2:157970774..169270675 [GRCh37]
Chr2:2q24.1-24.3
pathogenic
NM_024753.5(TTC21B):c.3157C>G (p.Arg1053Gly) single nucleotide variant not provided [RCV000512975] Chr2:165890585 [GRCh38]
Chr2:166747095 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_024753.5(TTC21B):c.3383_3384del (p.Tyr1128fs) deletion Jeune thoracic dystrophy [RCV000634199] Chr2:165888354..165888355 [GRCh38]
Chr2:166744864..166744865 [GRCh37]
Chr2:2q24.3
pathogenic
NM_024753.5(TTC21B):c.511G>A (p.Gly171Arg) single nucleotide variant Jeune thoracic dystrophy [RCV001496568]|not provided [RCV000634203] Chr2:165943260 [GRCh38]
Chr2:166799770 [GRCh37]
Chr2:2q24.3
likely benign
NM_024753.5(TTC21B):c.-24C>T single nucleotide variant Asphyxiating thoracic dystrophy 4 [RCV001132735]|Nephronophthisis 12 [RCV001132734]|not specified [RCV000601121] Chr2:165953729 [GRCh38]
Chr2:166810239 [GRCh37]
Chr2:2q24.3
likely benign|uncertain significance
NM_024753.5(TTC21B):c.1715C>A (p.Ser572Ter) single nucleotide variant TTC21B-Related Disorders [RCV000778568]|not provided [RCV000657791] Chr2:165917441 [GRCh38]
Chr2:166773951 [GRCh37]
Chr2:2q24.3
likely pathogenic|uncertain significance
NM_024753.5(TTC21B):c.62A>G (p.His21Arg) single nucleotide variant Jeune thoracic dystrophy [RCV000809882]|not provided [RCV000658128]|not specified [RCV001002060] Chr2:165949684 [GRCh38]
Chr2:166806194 [GRCh37]
Chr2:2q24.3
uncertain significance
GRCh37/hg19 2q24.3(chr2:166395880-167016281)x3 copy number gain not provided [RCV000682093] Chr2:166395880..167016281 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_024753.5(TTC21B):c.1999C>T (p.Gln667Ter) single nucleotide variant not provided [RCV000681869] Chr2:165915340 [GRCh38]
Chr2:166771850 [GRCh37]
Chr2:2q24.3
pathogenic
NM_024753.5(TTC21B):c.3350A>C (p.Gln1117Pro) single nucleotide variant Jeune thoracic dystrophy [RCV000693683] Chr2:165888388 [GRCh38]
Chr2:166744898 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_024753.5(TTC21B):c.901C>T (p.Arg301Cys) single nucleotide variant Jeune thoracic dystrophy [RCV000707517] Chr2:165930358 [GRCh38]
Chr2:166786868 [GRCh37]
Chr2:2q24.3
uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:15672-243101834)x3 copy number gain not provided [RCV000752804] Chr2:15672..243101834 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
NM_024753.5(TTC21B):c.21+2TGAGCGGG[8] microsatellite not provided [RCV001567817] Chr2:165953651..165953652 [GRCh38]
Chr2:166810161..166810162 [GRCh37]
Chr2:2q24.3
likely benign
NM_024753.5(TTC21B):c.1227_1230del (p.Lys410fs) deletion not provided [RCV000723090] Chr2:165929291..165929294 [GRCh38]
Chr2:166785801..166785804 [GRCh37]
Chr2:2q24.3
uncertain significance
Single allele deletion not provided [RCV000768457] Chr2:162485583..168295583 [GRCh37]
Chr2:2q24.2-24.3
pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:14238-243048760)x3 copy number gain not provided [RCV000752802] Chr2:14238..243048760 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
GRCh37/hg19 2q23.3-31.2(chr2:152409978-179325736)x3 copy number gain not provided [RCV000740654] Chr2:152409978..179325736 [GRCh37]
Chr2:2q23.3-31.2
pathogenic
NM_024753.5(TTC21B):c.2758-144_2758-143dup duplication not provided [RCV001534135] Chr2:165900008..165900009 [GRCh38]
Chr2:166756518..166756519 [GRCh37]
Chr2:2q24.3
likely benign
NM_024753.5(TTC21B):c.1387-266A>G single nucleotide variant not provided [RCV001547131] Chr2:165924944 [GRCh38]
Chr2:166781454 [GRCh37]
Chr2:2q24.3
likely benign
NM_024753.5(TTC21B):c.21+165C>T single nucleotide variant not provided [RCV001571553] Chr2:165953520 [GRCh38]
Chr2:166810030 [GRCh37]
Chr2:2q24.3
likely benign
NM_024753.5(TTC21B):c.2569-56C>T single nucleotide variant not provided [RCV001551225] Chr2:165901966 [GRCh38]
Chr2:166758476 [GRCh37]
Chr2:2q24.3
likely benign
NM_024753.5(TTC21B):c.1387-121_1387-117del deletion not provided [RCV001546720] Chr2:165924795..165924799 [GRCh38]
Chr2:166781305..166781309 [GRCh37]
Chr2:2q24.3
likely benign
NM_024753.5(TTC21B):c.2758-142T>G single nucleotide variant not provided [RCV001547261] Chr2:165900022 [GRCh38]
Chr2:166756532 [GRCh37]
Chr2:2q24.3
likely benign
NM_024753.5(TTC21B):c.1181C>T (p.Ser394Phe) single nucleotide variant Asphyxiating thoracic dystrophy 4 [RCV001135924]|Nephronophthisis 12 [RCV001135925] Chr2:165929654 [GRCh38]
Chr2:166786164 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_024753.5(TTC21B):c.429+258_429+261del microsatellite not provided [RCV001578269] Chr2:165945263..165945266 [GRCh38]
Chr2:166801773..166801776 [GRCh37]
Chr2:2q24.3
likely benign
NM_024753.5(TTC21B):c.2868+60A>G single nucleotide variant not provided [RCV001549828] Chr2:165899710 [GRCh38]
Chr2:166756220 [GRCh37]
Chr2:2q24.3
likely benign
NM_024753.5(TTC21B):c.553-5A>C single nucleotide variant Jeune thoracic dystrophy [RCV000866701] Chr2:165941189 [GRCh38]
Chr2:166797699 [GRCh37]
Chr2:2q24.3
likely benign
NM_024753.5(TTC21B):c.592C>T (p.Leu198=) single nucleotide variant not provided [RCV000876817] Chr2:165941145 [GRCh38]
Chr2:166797655 [GRCh37]
Chr2:2q24.3
likely benign
NM_024753.5(TTC21B):c.263-10C>T single nucleotide variant not provided [RCV000905034] Chr2:165945700 [GRCh38]
Chr2:166802210 [GRCh37]
Chr2:2q24.3
likely benign
NM_024753.5(TTC21B):c.984A>G (p.Thr328=) single nucleotide variant not provided [RCV000905637] Chr2:165930275 [GRCh38]
Chr2:166786785 [GRCh37]
Chr2:2q24.3
likely benign
NM_024753.5(TTC21B):c.2928G>A (p.Gln976=) single nucleotide variant not provided [RCV000869394] Chr2:165898708 [GRCh38]
Chr2:166755218 [GRCh37]
Chr2:2q24.3
likely benign
NM_024753.5(TTC21B):c.1710T>G (p.Ala570=) single nucleotide variant not provided [RCV000866956] Chr2:165917446 [GRCh38]
Chr2:166773956 [GRCh37]
Chr2:2q24.3
likely benign
NM_024753.5(TTC21B):c.1851A>G (p.Leu617=) single nucleotide variant not provided [RCV000924264] Chr2:165917305 [GRCh38]
Chr2:166773815 [GRCh37]
Chr2:2q24.3
likely benign
NM_024753.5(TTC21B):c.3481T>C (p.Leu1161=) single nucleotide variant Jeune thoracic dystrophy [RCV001398395]|not provided [RCV000902762] Chr2:165883997 [GRCh38]
Chr2:166740507 [GRCh37]
Chr2:2q24.3
likely benign
NM_024753.5(TTC21B):c.1677G>C (p.Val559=) single nucleotide variant Asphyxiating thoracic dystrophy 4 [RCV001135806]|Nephronophthisis 12 [RCV001135807]|not provided [RCV000868748] Chr2:165917479 [GRCh38]
Chr2:166773989 [GRCh37]
Chr2:2q24.3
likely benign|uncertain significance
NM_024753.5(TTC21B):c.715C>T (p.Leu239=) single nucleotide variant not provided [RCV000893238] Chr2:165933053 [GRCh38]
Chr2:166789563 [GRCh37]
Chr2:2q24.3
likely benign
NM_024753.5(TTC21B):c.2652T>A (p.Ala884=) single nucleotide variant not provided [RCV000901346] Chr2:165901827 [GRCh38]
Chr2:166758337 [GRCh37]
Chr2:2q24.3
likely benign
NM_024753.5(TTC21B):c.785A>T (p.Asp262Val) single nucleotide variant Asphyxiating thoracic dystrophy 4 [RCV001131590]|Nephronophthisis 12 [RCV001131591]|not provided [RCV000866223] Chr2:165932983 [GRCh38]
Chr2:166789493 [GRCh37]
Chr2:2q24.3
likely benign|uncertain significance
NM_024753.5(TTC21B):c.235T>C (p.Tyr79His) single nucleotide variant Jeune thoracic dystrophy [RCV001048635] Chr2:165949421 [GRCh38]
Chr2:166805931 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_024753.5(TTC21B):c.553-295_553-294insTCC insertion not provided [RCV000826346] Chr2:165941478..165941479 [GRCh38]
Chr2:166797988..166797989 [GRCh37]
Chr2:2q24.3
benign
NM_024753.5(TTC21B):c.1674+1G>T single nucleotide variant TTC21B-Related Disorders [RCV000778569] Chr2:165919275 [GRCh38]
Chr2:166775785 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_024753.5(TTC21B):c.3450A>G (p.Ala1150=) single nucleotide variant Asphyxiating thoracic dystrophy 4 [RCV001134076]|Jeune thoracic dystrophy [RCV000874145]|Nephronophthisis 12 [RCV001134077] Chr2:165888288 [GRCh38]
Chr2:166744798 [GRCh37]
Chr2:2q24.3
likely benign|uncertain significance
NM_024753.5(TTC21B):c.2046C>T (p.Ala682=) single nucleotide variant Jeune thoracic dystrophy [RCV000867490] Chr2:165915293 [GRCh38]
Chr2:166771803 [GRCh37]
Chr2:2q24.3
likely benign
NM_024753.5(TTC21B):c.2398T>C (p.Leu800=) single nucleotide variant not provided [RCV000868969] Chr2:165911390 [GRCh38]
Chr2:166767900 [GRCh37]
Chr2:2q24.3
likely benign
NM_024753.5(TTC21B):c.263-4C>A single nucleotide variant Jeune thoracic dystrophy [RCV000914760] Chr2:165945694 [GRCh38]
Chr2:166802204 [GRCh37]
Chr2:2q24.3
likely benign
NM_024753.5(TTC21B):c.2815C>A (p.Arg939=) single nucleotide variant not provided [RCV000865548] Chr2:165899823 [GRCh38]
Chr2:166756333 [GRCh37]
Chr2:2q24.3
likely benign
NM_024753.5(TTC21B):c.843A>G (p.Glu281=) single nucleotide variant not provided [RCV000875821] Chr2:165931809 [GRCh38]
Chr2:166788319 [GRCh37]
Chr2:2q24.3
likely benign
NM_024753.5(TTC21B):c.453T>G (p.Leu151=) single nucleotide variant Jeune thoracic dystrophy [RCV001426945]|not provided [RCV000964597] Chr2:165943318 [GRCh38]
Chr2:166799828 [GRCh37]
Chr2:2q24.3
likely benign
NM_024753.5(TTC21B):c.876A>G (p.Thr292=) single nucleotide variant Asphyxiating thoracic dystrophy 4 [RCV001135931]|Nephronophthisis 12 [RCV001135930]|not provided [RCV000862526] Chr2:165931776 [GRCh38]
Chr2:166788286 [GRCh37]
Chr2:2q24.3
likely benign|uncertain significance
GRCh37/hg19 2q24.3(chr2:166643249-166767040)x3 copy number gain not provided [RCV000845619] Chr2:166643249..166767040 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_024753.5(TTC21B):c.1455A>G (p.Val485=) single nucleotide variant not provided [RCV000893295] Chr2:165924610 [GRCh38]
Chr2:166781120 [GRCh37]
Chr2:2q24.3
likely benign
NM_024753.5(TTC21B):c.318T>C (p.Ala106=) single nucleotide variant Jeune thoracic dystrophy [RCV001462091]|not provided [RCV000870763] Chr2:165945635 [GRCh38]
Chr2:166802145 [GRCh37]
Chr2:2q24.3
likely benign
NM_024753.5(TTC21B):c.1185+23C>G single nucleotide variant not provided [RCV000834515] Chr2:165929627 [GRCh38]
Chr2:166786137 [GRCh37]
Chr2:2q24.3
benign
NM_024753.5(TTC21B):c.1793T>C (p.Ile598Thr) single nucleotide variant Jeune thoracic dystrophy [RCV000795039] Chr2:165917363 [GRCh38]
Chr2:166773873 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_024753.5(TTC21B):c.2323-288A>G single nucleotide variant not provided [RCV000826348] Chr2:165911753 [GRCh38]
Chr2:166768263 [GRCh37]
Chr2:2q24.3
benign
NC_000002.12:g.(?_165090130)_(166286643_?)del deletion Early infantile epileptic encephalopathy with suppression bursts [RCV000808624]|Hereditary sensory and autonomic neuropathy type IIA [RCV001387894] Chr2:165090130..166286643 [GRCh38]
Chr2:165946640..167143153 [GRCh37]
Chr2:2q24.3
pathogenic
NC_000002.12:g.165954114T>C single nucleotide variant not provided [RCV000826345] Chr2:165954114 [GRCh38]
Chr2:166810624 [GRCh37]
Chr2:2q24.3
benign
NC_000002.12:g.165953850C>T single nucleotide variant not provided [RCV000835283] Chr2:166810360 [GRCh37]
Chr2:2q24.3
benign
NM_024753.5(TTC21B):c.3828C>T (p.Tyr1276=) single nucleotide variant not provided [RCV000915584] Chr2:165876210 [GRCh38]
Chr2:166732720 [GRCh37]
Chr2:2q24.3
likely benign
NM_024753.5(TTC21B):c.2951-287T>C single nucleotide variant not provided [RCV000831146] Chr2:165891275 [GRCh38]
Chr2:166747785 [GRCh37]
Chr2:2q24.3
benign
NM_024753.5(TTC21B):c.3195G>T (p.Glu1065Asp) single nucleotide variant Jeune thoracic dystrophy [RCV000811211] Chr2:165890547 [GRCh38]
Chr2:166747057 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_024753.5(TTC21B):c.966G>A (p.Gln322=) single nucleotide variant not provided [RCV000976523] Chr2:165930293 [GRCh38]
Chr2:166786803 [GRCh37]
Chr2:2q24.3
likely benign
NM_024753.5(TTC21B):c.1087+151_1087+152insTAAAAA insertion not provided [RCV000829993] Chr2:165930020..165930021 [GRCh38]
Chr2:166786530..166786531 [GRCh37]
Chr2:2q24.3
benign
NC_000002.11:g.(?_166152314)_(167108415_?)dup duplication Early infantile epileptic encephalopathy with suppression bursts [RCV000811357]|Hereditary sensory and autonomic neuropathy type IIA [RCV001372278] Chr2:165295804..166251905 [GRCh38]
Chr2:166152314..167108415 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_024753.5(TTC21B):c.468A>G (p.Gly156=) single nucleotide variant Jeune thoracic dystrophy [RCV001088586]|not provided [RCV000828094] Chr2:165943303 [GRCh38]
Chr2:166799813 [GRCh37]
Chr2:2q24.3
likely benign
NM_024753.5(TTC21B):c.2138+48G>A single nucleotide variant not provided [RCV000834295] Chr2:165915153 [GRCh38]
Chr2:166771663 [GRCh37]
Chr2:2q24.3
benign
NM_024753.5(TTC21B):c.3460-50G>A single nucleotide variant not provided [RCV000834296] Chr2:165884068 [GRCh38]
Chr2:166740578 [GRCh37]
Chr2:2q24.3
benign
NC_000002.12:g.165929120C>T single nucleotide variant not provided [RCV000841343] Chr2:166785630 [GRCh37]
Chr2:2q24.3
likely benign
NM_024753.5(TTC21B):c.553-66C>G single nucleotide variant not provided [RCV000835399] Chr2:165941250 [GRCh38]
Chr2:166797760 [GRCh37]
Chr2:2q24.3
likely benign
NC_000002.11:g.166679228_166818452inv inversion Epilepsy [RCV000787427] Chr2:166679228..166818452 [GRCh37]
Chr2:2q24.3
pathogenic
NM_024753.5(TTC21B):c.2462-258A>G single nucleotide variant not provided [