LSS (lanosterol synthase) - Rat Genome Database

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Gene: LSS (lanosterol synthase) Homo sapiens
Analyze
Symbol: LSS
Name: lanosterol synthase
RGD ID: 736635
HGNC Page HGNC:6708
Description: Enables lanosterol synthase activity. Involved in cholesterol biosynthetic process and regulation of protein stability. Located in endoplasmic reticulum membrane and lipid droplet. Implicated in alopecia-mental retardation syndrome 4; cataract; cataract 44; and hypotrichosis 14.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: 2,3-epoxysqualene--lanosterol cyclase; 2,3-epoxysqualene-lanosterol cyclase; 2,3-oxidosqualene: lanosterol cyclase; APMR4; CTRCT44; FLJ25486; FLJ35015; FLJ39450; FLJ46393; hOSC; HYPT14; lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase); OSC; oxidosqualene--lanosterol cyclase
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382146,188,446 - 46,228,774 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2146,188,141 - 46,228,824 (-)EnsemblGRCh38hg38GRCh38
GRCh372147,608,360 - 47,648,688 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362146,432,788 - 46,473,119 (-)NCBINCBI36Build 36hg18NCBI36
Build 342146,433,466 - 46,473,119NCBI
Celera2132,720,748 - 32,761,140 (-)NCBICelera
Cytogenetic Map21q22.3NCBI
HuRef2132,990,213 - 33,031,026 (-)NCBIHuRef
CHM1_12147,167,889 - 47,208,226 (-)NCBICHM1_1
T2T-CHM13v2.02144,570,708 - 44,611,332 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+/-)-Aegeline  (ISO)
(RS)-coclaurine  (ISO)
(RS)-norcoclaurine  (ISO)
(S)-coclaurine  (ISO)
1,2-dimethylhydrazine  (ISO)
1-[(4-chlorophenyl)-phenylmethyl]-4-methylpiperazine  (EXP)
1-naphthyl isothiocyanate  (EXP,ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP,ISO)
2,2',4,4',5,5'-hexachlorobiphenyl  (ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (EXP)
2,2',5,5'-tetrachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
2,4-dinitrotoluene  (ISO)
2,6-dinitrotoluene  (ISO)
22-Hydroxycholesterol  (EXP)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
3,3',5-triiodo-L-thyronine  (ISO)
3-chloropropane-1,2-diol  (ISO)
3H-1,2-dithiole-3-thione  (ISO)
4,4'-sulfonyldiphenol  (ISO)
4-hydroxyphenyl retinamide  (ISO)
5-fluorouracil  (EXP)
7,12-dimethyltetraphene  (ISO)
8-Br-cAMP  (EXP)
AB-Fubinaca  (ISO)
acetamide  (ISO)
Acetyl tributyl citrate  (ISO)
acrylamide  (EXP)
afimoxifene  (EXP)
aflatoxin B1  (EXP,ISO)
aldrin  (ISO)
amiodarone  (EXP,ISO)
amitriptyline  (EXP)
ammonium chloride  (ISO)
amphetamine  (ISO)
antimony(0)  (EXP)
arachidonic acid  (EXP)
Archazolid B  (EXP)
aristolochic acid A  (EXP)
Aroclor 1254  (ISO)
arsane  (EXP)
arsenic atom  (EXP)
atrazine  (ISO)
avobenzone  (EXP)
azoxystrobin  (EXP)
benzatropine  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[b]fluoranthene  (ISO)
benzo[e]pyrene  (EXP)
beta-lapachone  (EXP)
beta-naphthoflavone  (EXP,ISO)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
Bisphenol B  (EXP)
bisphenol F  (EXP,ISO)
buta-1,3-diene  (ISO)
Butylbenzyl phthalate  (ISO)
cadmium dichloride  (EXP,ISO)
caffeine  (ISO)
calcitriol  (EXP)
cannabidiol  (EXP,ISO)
carbon nanotube  (ISO)
CGP 52608  (EXP)
chlorpromazine  (EXP)
chromium(6+)  (EXP,ISO)
ciguatoxin CTX1B  (ISO)
cisplatin  (EXP)
clarithromycin  (EXP)
clavulanic acid  (EXP)
clofibric acid  (ISO)
clomipramine  (EXP)
clozapine  (EXP)
cobalt dichloride  (EXP,ISO)
copper atom  (EXP,ISO)
copper(0)  (EXP,ISO)
copper(II) chloride  (EXP)
copper(II) sulfate  (EXP)
Cuprizon  (EXP,ISO)
curcumin  (ISO)
cyclosporin A  (EXP,ISO)
cyproconazole  (ISO)
DDE  (EXP)
deguelin  (EXP)
dexamethasone  (ISO)
Di-n-octyl phthalate  (ISO)
diazinon  (EXP)
dibenzo[a,l]pyrene  (ISO)
Dibutyl phosphate  (EXP)
dibutyl phthalate  (ISO)
dichloromethane  (ISO)
diethyl phthalate  (ISO)
Diisodecyl phthalate  (ISO)
diisononyl phthalate  (ISO)
dimethylarsinic acid  (ISO)
dipotassium bis[mu-tartrato(4-)]diantimonate(2-) trihydrate  (EXP)
doxepin  (EXP)
doxorubicin  (EXP)
epoxiconazole  (EXP,ISO)
erythromycin A  (EXP)
ethanol  (EXP,ISO)
ethyl methanesulfonate  (EXP)
Febrifugine  (EXP)
fenofibrate  (ISO)
fenthion  (ISO)
fipronil  (ISO)
flecainide  (EXP)
fluoranthene  (ISO)
fluoxetine  (EXP)
flusilazole  (ISO)
flutamide  (ISO)
folpet  (ISO)
formaldehyde  (EXP)
Ganoderic acid A  (EXP)
gold atom  (EXP)
gold(0)  (EXP)
hexaconazole  (ISO)
hydroquinone  (EXP)
imipramine  (EXP)
indometacin  (ISO)
isoflavones  (EXP)
ivermectin  (EXP)
ketoconazole  (EXP)
lead(0)  (EXP)
loperamide  (ISO)
loratadine  (EXP)
luteolin  (ISO)
metformin  (ISO)
methapyrilene  (EXP)
methidathion  (ISO)
methyl methanesulfonate  (EXP)
methylarsonic acid  (ISO)
methyltestosterone  (EXP)
N-nitrosodiethylamine  (ISO)
N-nitrosodimethylamine  (EXP)
nickel atom  (EXP)
nickel dichloride  (EXP)
obeticholic acid  (EXP)
ouabain  (EXP)
ozone  (ISO)
paracetamol  (EXP,ISO)
PCB138  (ISO)
pentamidine  (EXP)
perfluorobutyric acid  (ISO)
perfluorononanoic acid  (EXP)
perfluorooctane-1-sulfonic acid  (EXP,ISO)
perfluorooctanoic acid  (EXP,ISO)
perhexiline  (EXP)
phenobarbital  (ISO)
phenylpropanolamine  (EXP)
pirinixic acid  (ISO)
potassium dichromate  (EXP)
pravastatin  (ISO)
pregnenolone 16alpha-carbonitrile  (ISO)
progesterone  (EXP)
propiconazole  (EXP)
quercetin  (EXP)
rotenone  (EXP,ISO)
sertraline  (EXP)
silver atom  (ISO)
silver(0)  (ISO)
sodium arsenate  (ISO)
sodium arsenite  (EXP,ISO)
sotalol  (EXP)
succimer  (ISO)
sulforaphane  (EXP)
sunitinib  (EXP)
tamoxifen  (EXP)
tebuconazole  (EXP)
temozolomide  (EXP)
tert-butyl hydroperoxide  (ISO)
testosterone  (EXP,ISO)
tetrachloromethane  (ISO)
thimerosal  (EXP)
thioridazine  (EXP)
thiram  (EXP)
titanium dioxide  (ISO)
triacsin C  (EXP)
triadimefon  (ISO)
trichostatin A  (EXP)
trimellitic anhydride  (ISO)
triphenyl phosphate  (EXP,ISO)
troglitazone  (EXP,ISO)
tunicamycin  (EXP)
valdecoxib  (ISO)
valproic acid  (ISO)
vinclozolin  (ISO)
vitamin K  (ISO)
vorinostat  (EXP)
Yessotoxin  (EXP)
yohimbine  (ISO)
zaragozic acid A  (ISO)
zimeldine  (EXP)
zoledronic acid  (EXP,ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. KEGG: Kyoto Encyclopedia of Genes and Genomes KEGG
3. Adverse effects of long-term exposure to bisphenol A during adulthood leading to hyperglycaemia and hypercholesterolemia in mice. Marmugi A, etal., Toxicology. 2014 Nov 5;325:133-43. doi: 10.1016/j.tox.2014.08.006. Epub 2014 Aug 26.
4. Purification of 2,3-oxidosqualene cyclase from rat liver. Moore WR and Schatzman GL, J Biol Chem. 1992 Nov 5;267(31):22003-6.
5. Lanosterol synthase mutations cause cholesterol deficiency-associated cataracts in the Shumiya cataract rat. Mori M, etal., J Clin Invest. 2006 Feb;116(2):395-404. Epub 2006 Jan 26.
6. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
7. SMPDB Annotation Import Pipeline Pipeline to import SMPDB annotations from SMPDB into RGD
8. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
9. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
10. Defects of cholesterol biosynthesis. Waterham HR FEBS Lett. 2006 Oct 9;580(23):5442-9. Epub 2006 Jul 20.
11. Lanosterol reverses protein aggregation in cataracts. Zhao L, etal., Nature. 2015 Jul 30;523(7562):607-11. doi: 10.1038/nature14650. Epub 2015 Jul 22.
Additional References at PubMed
PMID:3515096   PMID:7639730   PMID:8593458   PMID:8655142   PMID:8820110   PMID:8889548   PMID:9763219   PMID:10598817   PMID:10830953   PMID:11421484   PMID:12477932   PMID:14702039  
PMID:14741744   PMID:14766201   PMID:15489334   PMID:15525992   PMID:15790807   PMID:16344560   PMID:16806233   PMID:17186944   PMID:17255364   PMID:18660489   PMID:19119143   PMID:19913121  
PMID:19946888   PMID:20379614   PMID:20628086   PMID:21498505   PMID:21873635   PMID:21988832   PMID:25051231   PMID:25921289   PMID:26186194   PMID:26496610   PMID:26667413   PMID:26673895  
PMID:28298427   PMID:28514442   PMID:28611215   PMID:29016354   PMID:29180619   PMID:30401459   PMID:30723320   PMID:30745168   PMID:30923116   PMID:31073040   PMID:31322293   PMID:31536960  
PMID:32101538   PMID:32235678   PMID:32296183   PMID:32694731   PMID:32877255   PMID:33001583   PMID:33222230   PMID:33845483   PMID:33957083   PMID:33961781   PMID:34318586   PMID:34591612  
PMID:34709727   PMID:35016035   PMID:35124280   PMID:35241646   PMID:35271311   PMID:35509820   PMID:35944360   PMID:36215168   PMID:36634849   PMID:37628669   PMID:37827155  


Genomics

Comparative Map Data
LSS
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382146,188,446 - 46,228,774 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2146,188,141 - 46,228,824 (-)EnsemblGRCh38hg38GRCh38
GRCh372147,608,360 - 47,648,688 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362146,432,788 - 46,473,119 (-)NCBINCBI36Build 36hg18NCBI36
Build 342146,433,466 - 46,473,119NCBI
Celera2132,720,748 - 32,761,140 (-)NCBICelera
Cytogenetic Map21q22.3NCBI
HuRef2132,990,213 - 33,031,026 (-)NCBIHuRef
CHM1_12147,167,889 - 47,208,226 (-)NCBICHM1_1
T2T-CHM13v2.02144,570,708 - 44,611,332 (-)NCBIT2T-CHM13v2.0
Lss
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391076,367,303 - 76,392,973 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1076,367,422 - 76,392,972 (+)EnsemblGRCm39 Ensembl
GRCm381076,531,565 - 76,557,139 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1076,531,588 - 76,557,138 (+)EnsemblGRCm38mm10GRCm38
MGSCv371075,994,372 - 76,016,679 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361075,975,343 - 75,997,650 (+)NCBIMGSCv36mm8
Celera1077,576,142 - 77,598,449 (+)NCBICelera
Cytogenetic Map10C1NCBI
cM Map1039.1NCBI
Lss
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr82012,090,641 - 12,118,230 (-)NCBIGRCr8
mRatBN7.22012,091,138 - 12,118,858 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl2012,092,774 - 12,118,762 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx2012,789,080 - 12,815,472 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.02012,150,002 - 12,176,395 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.02012,621,780 - 12,648,174 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.02012,844,522 - 12,870,474 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl2012,842,884 - 12,870,497 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.02015,000,298 - 15,027,581 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Rnor_5.02015,337,114 - 15,338,473 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.42012,507,575 - 12,534,612 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.12012,507,801 - 12,534,839 (-)NCBI
Celera2013,590,952 - 13,616,816 (-)NCBICelera
Cytogenetic Map20p12NCBI
Lss
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495540742,633,658 - 42,653,399 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495540742,633,658 - 42,653,399 (-)NCBIChiLan1.0ChiLan1.0
LSS
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22242,290,120 - 42,328,031 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12137,162,576 - 37,201,020 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v02132,535,564 - 32,571,379 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12145,787,252 - 45,822,181 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2145,787,252 - 45,822,181 (-)Ensemblpanpan1.1panPan2
LSS
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13139,479,255 - 39,502,439 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl3139,480,581 - 39,503,042 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3138,707,040 - 38,730,234 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.03139,120,352 - 39,143,563 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl3139,120,357 - 39,143,585 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.13138,982,033 - 39,005,248 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.03138,942,696 - 38,965,462 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.03139,460,908 - 39,484,125 (-)NCBIUU_Cfam_GSD_1.0
Lss
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440497138,779,602 - 38,807,151 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936778323,014 - 351,102 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936778323,120 - 351,100 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
LSS
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa10.213218,517,444 - 218,539,989 (-)NCBISscrofa10.2Sscrofa10.2susScr3
LSS
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1289,809,065 - 89,846,295 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl289,811,698 - 89,846,242 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605418,194,151 - 18,231,629 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Lss
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462474531,306,807 - 31,325,199 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462474531,301,648 - 31,325,283 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in LSS
256 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 21q22.3(chr21:46214279-46670405)x1 copy number loss See cases [RCV000050919] Chr21:46214279..46670405 [GRCh38]
Chr21:47634193..48090317 [GRCh37]
Chr21:46458621..46914745 [NCBI36]
Chr21:21q22.3		 uncertain significance
GRCh38/hg38 21q22.3(chr21:42232926-46670405)x1 copy number loss See cases [RCV000050746] Chr21:42232926..46670405 [GRCh38]
Chr21:43653036..48090317 [GRCh37]
Chr21:42526105..46914745 [NCBI36]
Chr21:21q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3 copy number gain See cases [RCV000050445] Chr21:7749532..46670405 [GRCh38]
Chr21:15499847..48090317 [GRCh37]
Chr21:14421718..46914745 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 21q22.3(chr21:41285201-46670405)x1 copy number loss See cases [RCV000051022] Chr21:41285201..46670405 [GRCh38]
Chr21:42657128..48090317 [GRCh37]
Chr21:41578998..46914745 [NCBI36]
Chr21:21q22.3		 pathogenic
GRCh38/hg38 21q22.12-22.3(chr21:35027972-46670405)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052836]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052836]|See cases [RCV000052836] Chr21:35027972..46670405 [GRCh38]
Chr21:36400269..48090317 [GRCh37]
Chr21:35322139..46914745 [NCBI36]
Chr21:21q22.12-22.3		 pathogenic
GRCh38/hg38 21q22.13-22.3(chr21:38273492-46670405)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052838]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052838]|See cases [RCV000052838] Chr21:38273492..46670405 [GRCh38]
Chr21:39645414..48090317 [GRCh37]
Chr21:38567284..46914745 [NCBI36]
Chr21:21q22.13-22.3		 pathogenic
GRCh38/hg38 21q22.2-22.3(chr21:40127825-46670546)x1 copy number loss See cases [RCV000052839] Chr21:40127825..46670546 [GRCh38]
Chr21:41499752..48090458 [GRCh37]
Chr21:40421622..46914886 [NCBI36]
Chr21:21q22.2-22.3		 pathogenic
GRCh38/hg38 21q22.3(chr21:45085281-46670546)x1 copy number loss See cases [RCV000052841] Chr21:45085281..46670546 [GRCh38]
Chr21:46505196..48090458 [GRCh37]
Chr21:45329624..46914886 [NCBI36]
Chr21:21q22.3		 pathogenic
GRCh38/hg38 21q22.3(chr21:45110477-46648012)x1 copy number loss See cases [RCV000052842] Chr21:45110477..46648012 [GRCh38]
Chr21:46530392..48067924 [GRCh37]
Chr21:45354820..46892352 [NCBI36]
Chr21:21q22.3		 pathogenic
GRCh38/hg38 21q22.3(chr21:45138321-46670405)x1 copy number loss See cases [RCV000052864] Chr21:45138321..46670405 [GRCh38]
Chr21:46558236..48090317 [GRCh37]
Chr21:45382664..46914745 [NCBI36]
Chr21:21q22.3		 pathogenic
GRCh38/hg38 21q22.3(chr21:45801860-46670405)x1 copy number loss See cases [RCV000052866] Chr21:45801860..46670405 [GRCh38]
Chr21:47221774..48090317 [GRCh37]
Chr21:46046202..46914745 [NCBI36]
Chr21:21q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3 copy number gain See cases [RCV000053042] Chr21:7749532..46623792 [GRCh38]
Chr21:14595524..48043704 [GRCh37]
Chr21:13517395..46868132 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3 copy number gain See cases [RCV000053043] Chr21:7749532..46623792 [GRCh38]
Chr21:14629063..48043704 [GRCh37]
Chr21:13550934..46868132 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670546)x3 copy number gain See cases [RCV000053045] Chr21:7749532..46670546 [GRCh38]
Chr21:15499647..48090458 [GRCh37]
Chr21:14421518..46914886 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46661140)x3 copy number gain See cases [RCV000053065] Chr21:7749532..46661140 [GRCh38]
Chr21:15499647..48081052 [GRCh37]
Chr21:14421518..46905480 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46661140)x3 copy number gain See cases [RCV000053067] Chr21:7749532..46661140 [GRCh38]
Chr21:15499847..48081052 [GRCh37]
Chr21:14421718..46905480 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3 copy number gain See cases [RCV000053068] Chr21:7749532..46670405 [GRCh38]
Chr21:20655360..48090317 [GRCh37]
Chr21:19577231..46914745 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3 copy number gain See cases [RCV000053069] Chr21:7749532..46670405 [GRCh38]
Chr21:34423268..48090317 [GRCh37]
Chr21:33345138..46914745 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3 copy number gain See cases [RCV000053039] Chr21:7749532..46623792 [GRCh38]
Chr21:14524963..48043704 [GRCh37]
Chr21:13446834..46868132 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21q22.3(chr21:45471378-46670405)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053073]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053073]|See cases [RCV000053073] Chr21:45471378..46670405 [GRCh38]
Chr21:46891292..48090317 [GRCh37]
Chr21:45715720..46914745 [NCBI36]
Chr21:21q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46653090)x3 copy number gain See cases [RCV000053040] Chr21:7749532..46653090 [GRCh38]
Chr21:14539679..48073002 [GRCh37]
Chr21:13461550..46897430 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh37/hg19 21q22.3(chr21:47486134-47796810)x3 copy number gain See cases [RCV000184073] Chr21:47486134..47796810 [GRCh37]
Chr21:21q22.3		 uncertain significance
GRCh38/hg38 21q22.3(chr21:43071168-46670405)x1 copy number loss See cases [RCV000133675] Chr21:43071168..46670405 [GRCh38]
Chr21:44491278..48090317 [GRCh37]
Chr21:43364347..46914745 [NCBI36]
Chr21:21q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46653084)x3 copy number gain See cases [RCV000134727] Chr21:7749532..46653084 [GRCh38]
Chr21:15485038..48072996 [GRCh37]
Chr21:14406909..46897424 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46649831)x3 copy number gain See cases [RCV000134509] Chr21:7749532..46649831 [GRCh38]
Chr21:14577835..48069743 [GRCh37]
Chr21:13499706..46894171 [NCBI36]
Chr21:21q11.2-22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670440)x3 copy number gain See cases [RCV000134119] Chr21:7749532..46670440 [GRCh38]
Chr21:15485038..48090352 [GRCh37]
Chr21:14406909..46914780 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21q22.11-22.3(chr21:7749532-46670346)x3 copy number gain See cases [RCV000135310] Chr21:7749532..46670346 [GRCh38]
Chr21:34111831..48090258 [GRCh37]
Chr21:33033702..46914686 [NCBI36]
Chr21:21q22.11-22.3		 pathogenic
GRCh38/hg38 21q22.12-22.3(chr21:36206067-46670405)x3 copy number gain See cases [RCV000134972] Chr21:36206067..46670405 [GRCh38]
Chr21:37578365..48090317 [GRCh37]
Chr21:36500235..46914745 [NCBI36]
Chr21:21q22.12-22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46664250)x3 copy number gain See cases [RCV000134836] Chr21:7749532..46664250 [GRCh38]
Chr21:15485038..48084162 [GRCh37]
Chr21:14406909..46908590 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670440)x3 copy number gain See cases [RCV000134842] Chr21:7749532..46670440 [GRCh38]
Chr21:15513244..48090352 [GRCh37]
Chr21:14435115..46914780 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46660999)x3 copy number gain See cases [RCV000135448] Chr21:7749532..46660999 [GRCh38]
Chr21:15499847..48080911 [GRCh37]
Chr21:14421718..46905339 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21q22.13-22.3(chr21:36519173-46670405)x3 copy number gain See cases [RCV000136142] Chr21:36519173..46670405 [GRCh38]
Chr21:37891471..48090317 [GRCh37]
Chr21:36813341..46914745 [NCBI36]
Chr21:21q22.13-22.3		 pathogenic
GRCh38/hg38 21q22.12-22.3(chr21:34789953-46636538)x1 copy number loss See cases [RCV000136828] Chr21:34789953..46636538 [GRCh38]
Chr21:36162250..48056450 [GRCh37]
Chr21:35084120..46880878 [NCBI36]
Chr21:21q22.12-22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3 copy number gain See cases [RCV000137255] Chr21:7749532..46671060 [GRCh38]
Chr21:35319225..48090972 [GRCh37]
Chr21:34241095..46915400 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3 copy number gain See cases [RCV000137337] Chr21:7749532..46671060 [GRCh38]
Chr21:10697897..48090972 [GRCh37]
Chr21:1..46915400 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21q22.3(chr21:41733640-46671060)x1 copy number loss See cases [RCV000137341] Chr21:41733640..46671060 [GRCh38]
Chr21:43153800..48090972 [GRCh37]
Chr21:42026869..46915400 [NCBI36]
Chr21:21q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3 copy number gain See cases [RCV000138216] Chr21:7749532..46671060 [GRCh38]
Chr21:10944001..48090972 [GRCh37]
Chr21:9965872..46915400 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21q22.13-22.3(chr21:37669628-46671060)x1 copy number loss See cases [RCV000138096] Chr21:37669628..46671060 [GRCh38]
Chr21:39041930..48090972 [GRCh37]
Chr21:37963800..46915400 [NCBI36]
Chr21:21q22.13-22.3		 pathogenic
GRCh38/hg38 21q22.12-22.3(chr21:36066991-46671060)x3 copy number gain See cases [RCV000138164] Chr21:36066991..46671060 [GRCh38]
Chr21:37439289..48090972 [GRCh37]
Chr21:36361159..46915400 [NCBI36]
Chr21:21q22.12-22.3		 pathogenic
GRCh38/hg38 21q22.3(chr21:45877354-46543273)x3 copy number gain See cases [RCV000137820] Chr21:45877354..46543273 [GRCh38]
Chr21:47297268..47963186 [GRCh37]
Chr21:46121696..46787614 [NCBI36]
Chr21:21q22.3		 likely benign
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3 copy number gain See cases [RCV000138436] Chr21:7749532..46671060 [GRCh38]
Chr21:15451032..48090972 [GRCh37]
Chr21:14372903..46915400 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic|conflicting data from submitters
GRCh38/hg38 21q22.2-22.3(chr21:40296025-46670440)x1 copy number loss See cases [RCV000139158] Chr21:40296025..46670440 [GRCh38]
Chr21:41667952..48090352 [GRCh37]
Chr21:40589822..46914780 [NCBI36]
Chr21:21q22.2-22.3		 pathogenic
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46670346)x3 copy number gain See cases [RCV000140103] Chr21:7749532..46670346 [GRCh38]
Chr21:14577894..48090258 [GRCh37]
Chr21:13499765..46914686 [NCBI36]
Chr21:21q11.2-22.3		 pathogenic
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46698247)x3 copy number gain See cases [RCV000141346] Chr21:7749532..46698247 [GRCh38]
Chr21:14577835..48118159 [GRCh37]
Chr21:13499706..46942587 [NCBI36]
Chr21:21q11.2-22.3		 pathogenic
GRCh38/hg38 21q21.3-22.3(chr21:7749532-46677460)x3 copy number gain See cases [RCV000141827] Chr21:7749532..46677460 [GRCh38]
Chr21:28285299..48097372 [GRCh37]
Chr21:27207170..46921800 [NCBI36]
Chr21:21q21.3-22.3		 uncertain significance
GRCh38/hg38 21q22.3(chr21:45903036-46677460)x1 copy number loss See cases [RCV000141901] Chr21:45903036..46677460 [GRCh38]
Chr21:47322950..48097372 [GRCh37]
Chr21:46147378..46921800 [NCBI36]
Chr21:21q22.3		 uncertain significance
GRCh38/hg38 21q22.2-22.3(chr21:38816399-46677460)x1 copy number loss See cases [RCV000142311] Chr21:38816399..46677460 [GRCh38]
Chr21:40188323..48097372 [GRCh37]
Chr21:39110193..46921800 [NCBI36]
Chr21:21q22.2-22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7817158-46670440)x1 copy number loss See cases [RCV000142427] Chr21:7817158..46670440 [GRCh38]
Chr21:15485038..48090352 [GRCh37]
Chr21:14406909..46914780 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3 copy number gain See cases [RCV000143120] Chr21:7749532..46677460 [GRCh38]
Chr21:15006457..48097372 [GRCh37]
Chr21:13928328..46921800 [NCBI36]
Chr21:21q11.2-22.3		 pathogenic
GRCh38/hg38 21q22.3(chr21:42913213-46670405)x1 copy number loss See cases [RCV000142600] Chr21:42913213..46670405 [GRCh38]
Chr21:44333323..48090317 [GRCh37]
Chr21:43206392..46914745 [NCBI36]
Chr21:21q22.3		 pathogenic
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3 copy number gain See cases [RCV000143376] Chr21:7749532..46677460 [GRCh38]
Chr21:15006458..48097372 [GRCh37]
Chr21:13928329..46921800 [NCBI36]
Chr21:21q11.2-22.3		 pathogenic
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460) copy number gain See cases [RCV000143160] Chr21:7749532..46677460 [GRCh38]
Chr21:14386013..48097372 [GRCh37]
Chr21:13307884..46921800 [NCBI36]
Chr21:21q11.2-22.3		 pathogenic
GRCh38/hg38 21q22.3(chr21:42129699-46671060)x1 copy number loss See cases [RCV000143335] Chr21:42129699..46671060 [GRCh38]
Chr21:43549809..48090972 [GRCh37]
Chr21:42422878..46915400 [NCBI36]
Chr21:21q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3 copy number gain See cases [RCV000148131] Chr21:7749532..46670405 [GRCh38]
Chr21:15499847..48090317 [GRCh37]
Chr21:14421718..46914745 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
NM_002340.6(LSS):c.1762G>A (p.Gly588Ser) single nucleotide variant Cataract 44 [RCV000206988]|Hypotrichosis 14 [RCV003237320] Chr21:46195731 [GRCh38]
Chr21:47615645 [GRCh37]
Chr21:21q22.3		 pathogenic|likely pathogenic|uncertain significance
NM_002340.6(LSS):c.1741T>C (p.Trp581Arg) single nucleotide variant Cataract 44 [RCV000207005] Chr21:46195752 [GRCh38]
Chr21:47615666 [GRCh37]
Chr21:21q22.3		 pathogenic
GRCh37/hg19 21q22.3(chr21:44828064-48097372)x1 copy number loss See cases [RCV000449026] Chr21:44828064..48097372 [GRCh37]
Chr21:21q22.3		 pathogenic
Single allele deletion Axenfeld-Rieger syndrome type 3 [RCV000677943] Chr21:46363553..48080926 [GRCh37]
Chr21:21q22.3		 pathogenic
GRCh37/hg19 21q22.3(chr21:46363553-48080926)x1 copy number loss See cases [RCV000239957] Chr21:46363553..48080926 [GRCh37]
Chr21:21q22.3		 pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15538655-48080926)x1 copy number loss See cases [RCV000239948] Chr21:15538655..48080926 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
GRCh37/hg19 21q22.3(chr21:47550596-48080926)x1 copy number loss See cases [RCV000240055] Chr21:47550596..48080926 [GRCh37]
Chr21:21q22.3		 likely pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15410701-48090317)x3 copy number gain See cases [RCV000240397] Chr21:15410701..48090317 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
GRCh37/hg19 21q22.3(chr21:46682125-48090317)x3 copy number gain See cases [RCV000240574] Chr21:46682125..48090317 [GRCh37]
Chr21:21q22.3		 likely pathogenic
NM_002340.6(LSS):c.596T>G (p.Val199Gly) single nucleotide variant Inborn genetic diseases [RCV004047555]|not provided [RCV002281273] Chr21:46219527 [GRCh38]
Chr21:47639441 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_002340.6(LSS):c.1702C>T (p.Arg568Trp) single nucleotide variant not provided [RCV002285998] Chr21:46196236 [GRCh38]
Chr21:47616150 [GRCh37]
Chr21:21q22.3		 likely pathogenic
NM_002340.6(LSS):c.1943A>T (p.Gln648Leu) single nucleotide variant not provided [RCV001573280] Chr21:46194536 [GRCh38]
Chr21:47614450 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_002340.6(LSS):c.320-165C>A single nucleotide variant not provided [RCV001545544] Chr21:46222903 [GRCh38]
Chr21:47642817 [GRCh37]
Chr21:21q22.3		 likely benign
GRCh37/hg19 21q22.3(chr21:46955240-48080867)x1 copy number loss See cases [RCV000449447] Chr21:46955240..48080867 [GRCh37]
Chr21:21q22.3		 likely pathogenic|uncertain significance
GRCh37/hg19 21q22.3(chr21:43268694-48097372)x1 copy number loss See cases [RCV000446372] Chr21:43268694..48097372 [GRCh37]
Chr21:21q22.3		 pathogenic
GRCh37/hg19 21q22.3(chr21:43598607-48097372)x1 copy number loss See cases [RCV000447618] Chr21:43598607..48097372 [GRCh37]
Chr21:21q22.3		 pathogenic
GRCh37/hg19 21q22.2-22.3(chr21:42410406-48097372)x1 copy number loss See cases [RCV000448694] Chr21:42410406..48097372 [GRCh37]
Chr21:21q22.2-22.3		 pathogenic
GRCh37/hg19 21q22.3(chr21:45773272-48097372)x1 copy number loss See cases [RCV000448877] Chr21:45773272..48097372 [GRCh37]
Chr21:21q22.3		 pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:14771770-48080867)x3 copy number gain See cases [RCV000447884] Chr21:14771770..48080867 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15285841-48097372)x3 copy number gain See cases [RCV000447729] Chr21:15285841..48097372 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15006457-48097372)x3 copy number gain See cases [RCV000447749] Chr21:15006457..48097372 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
GRCh37/hg19 21q22.3(chr21:43498966-48097372)x1 copy number loss See cases [RCV000512071] Chr21:43498966..48097372 [GRCh37]
Chr21:21q22.3		 pathogenic
GRCh37/hg19 21q22.13-22.3(chr21:38699545-48097372)x1 copy number loss See cases [RCV000510684] Chr21:38699545..48097372 [GRCh37]
Chr21:21q22.13-22.3		 pathogenic
GRCh37/hg19 21q22.2-22.3(chr21:41254101-48097372)x1 copy number loss See cases [RCV000511808] Chr21:41254101..48097372 [GRCh37]
Chr21:21q22.2-22.3		 pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15006458-48097372) copy number gain See cases [RCV000511589] Chr21:15006458..48097372 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
GRCh37/hg19 21q22.3(chr21:47563979-47681958)x4 copy number gain See cases [RCV000511854] Chr21:47563979..47681958 [GRCh37]
Chr21:21q22.3		 uncertain significance
GRCh37/hg19 21q22.13-22.3(chr21:37914123-48097372)x1 copy number loss See cases [RCV000510798] Chr21:37914123..48097372 [GRCh37]
Chr21:21q22.13-22.3		 pathogenic
NM_002340.6(LSS):c.620G>T (p.Gly207Val) single nucleotide variant Inborn genetic diseases [RCV003281664] Chr21:46219503 [GRCh38]
Chr21:47639417 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_002340.6(LSS):c.1490A>G (p.Asp497Gly) single nucleotide variant Inborn genetic diseases [RCV003289864] Chr21:46206746 [GRCh38]
Chr21:47626660 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_002340.6(LSS):c.2044C>T (p.Leu682Phe) single nucleotide variant Inborn genetic diseases [RCV003305793] Chr21:46191904 [GRCh38]
Chr21:47611818 [GRCh37]
Chr21:21q22.3		 uncertain significance
GRCh37/hg19 21q22.3(chr21:47563979-47681958)x3 copy number gain See cases [RCV000512553] Chr21:47563979..47681958 [GRCh37]
Chr21:21q22.3		 uncertain significance
GRCh37/hg19 21q22.3(chr21:43687353-48097372)x1 copy number loss not provided [RCV000684163] Chr21:43687353..48097372 [GRCh37]
Chr21:21q22.3		 pathogenic
GRCh37/hg19 21q22.2-22.3(chr21:42335622-48097372)x1 copy number loss not provided [RCV000684165] Chr21:42335622..48097372 [GRCh37]
Chr21:21q22.2-22.3		 pathogenic
GRCh37/hg19 21q22.3(chr21:47563979-48004323)x3 copy number gain not provided [RCV000684146] Chr21:47563979..48004323 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_002340.6(LSS):c.1887G>T (p.Trp629Cys) single nucleotide variant Cataract 44 [RCV000735948] Chr21:46194592 [GRCh38]
Chr21:47614506 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_002340.6(LSS):c.743T>C (p.Leu248Pro) single nucleotide variant Hypotrichosis 14 [RCV000735950] Chr21:46216429 [GRCh38]
Chr21:47636343 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_002340.6(LSS):c.304C>G (p.Leu102Val) single nucleotide variant Alopecia-intellectual disability syndrome 4 [RCV003336165]|Hypotrichosis 14 [RCV000735951] Chr21:46227567 [GRCh38]
Chr21:47647481 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_002340.6(LSS):c.1172T>C (p.Phe391Ser) single nucleotide variant Hypotrichosis 14 [RCV000735949] Chr21:46210710 [GRCh38]
Chr21:47630624 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_002340.6(LSS):c.625A>T (p.Asn209Tyr) single nucleotide variant Alopecia-intellectual disability syndrome 4 [RCV000735953]|not provided [RCV002535439] Chr21:46219498 [GRCh38]
Chr21:47639412 [GRCh37]
Chr21:21q22.3		 pathogenic|likely pathogenic
NM_002340.6(LSS):c.1025T>G (p.Ile342Ser) single nucleotide variant Cataract 44 [RCV000735947] Chr21:46213822 [GRCh38]
Chr21:47633736 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_002340.6(LSS):c.423G>A (p.Trp141Ter) single nucleotide variant Alopecia-intellectual disability syndrome 4 [RCV000735952] Chr21:46222635 [GRCh38]
Chr21:47642549 [GRCh37]
Chr21:21q22.3		 pathogenic
Single allele duplication Autism [RCV000754229] Chr21:43403441..46673937 [GRCh38]
Chr21:21q22.3		 likely pathogenic
GRCh37/hg19 21p11.2-q22.3(chr21:10827533-48100155)x3 copy number gain not provided [RCV000741419] Chr21:10827533..48100155 [GRCh37]
Chr21:21p11.2-q22.3		 pathogenic
GRCh37/hg19 21q22.3(chr21:47494789-48117896)x3 copy number gain not provided [RCV000741649] Chr21:47494789..48117896 [GRCh37]
Chr21:21q22.3		 pathogenic
GRCh37/hg19 21q22.3(chr21:47589136-47610085)x1 copy number loss not provided [RCV000741654] Chr21:47589136..47610085 [GRCh37]
Chr21:21q22.3		 benign
GRCh37/hg19 21q22.3(chr21:47589136-47610305)x1 copy number loss not provided [RCV000741655] Chr21:47589136..47610305 [GRCh37]
Chr21:21q22.3		 benign
GRCh37/hg19 21q22.3(chr21:47589136-47610415)x1 copy number loss not provided [RCV000741656] Chr21:47589136..47610415 [GRCh37]
Chr21:21q22.3		 benign
GRCh37/hg19 21q22.3(chr21:47589136-47657673)x1 copy number loss not provided [RCV000741657] Chr21:47589136..47657673 [GRCh37]
Chr21:21q22.3		 benign
GRCh37/hg19 21q22.3(chr21:47589156-47610305)x1 copy number loss not provided [RCV000741658] Chr21:47589156..47610305 [GRCh37]
Chr21:21q22.3		 benign
GRCh37/hg19 21q22.3(chr21:47589277-47610066)x1 copy number loss not provided [RCV000741659] Chr21:47589277..47610066 [GRCh37]
Chr21:21q22.3		 benign
GRCh37/hg19 21q22.3(chr21:47589277-47610085)x1 copy number loss not provided [RCV000741660] Chr21:47589277..47610085 [GRCh37]
Chr21:21q22.3		 benign
GRCh37/hg19 21q22.3(chr21:47589277-47658301)x1 copy number loss not provided [RCV000741661] Chr21:47589277..47658301 [GRCh37]
Chr21:21q22.3		 benign
GRCh37/hg19 21q22.3(chr21:47589429-47610085)x1 copy number loss not provided [RCV000741662] Chr21:47589429..47610085 [GRCh37]
Chr21:21q22.3		 benign
GRCh37/hg19 21q22.3(chr21:47589581-47610085)x1 copy number loss not provided [RCV000741663] Chr21:47589581..47610085 [GRCh37]
Chr21:21q22.3		 benign
GRCh37/hg19 21q22.3(chr21:47589826-47681041)x1 copy number loss not provided [RCV000741664] Chr21:47589826..47681041 [GRCh37]
Chr21:21q22.3		 benign
GRCh37/hg19 21q22.3(chr21:47603387-47610085)x1 copy number loss not provided [RCV000741665] Chr21:47603387..47610085 [GRCh37]
Chr21:21q22.3		 benign
GRCh37/hg19 21q22.3(chr21:47603387-47658404)x1 copy number loss not provided [RCV000741666] Chr21:47603387..47658404 [GRCh37]
Chr21:21q22.3		 benign
GRCh37/hg19 21q22.3(chr21:47603423-47610085)x1 copy number loss not provided [RCV000741667] Chr21:47603423..47610085 [GRCh37]
Chr21:21q22.3		 benign
GRCh37/hg19 21q22.3(chr21:47609731-47610939)x1 copy number loss not provided [RCV000741668] Chr21:47609731..47610939 [GRCh37]
Chr21:21q22.3		 benign
GRCh37/hg19 21p11.2-q22.3(chr21:10699330-48117896)x3 copy number gain not provided [RCV000741413] Chr21:10699330..48117896 [GRCh37]
Chr21:21p11.2-q22.3		 pathogenic
GRCh37/hg19 21p11.2-q22.3(chr21:10704198-48117896)x3 copy number gain not provided [RCV000741415] Chr21:10704198..48117896 [GRCh37]
Chr21:21p11.2-q22.3		 pathogenic
GRCh37/hg19 21p11.2-q22.3(chr21:10824040-48090629)x3 copy number gain not provided [RCV000741418] Chr21:10824040..48090629 [GRCh37]
Chr21:21p11.2-q22.3		 pathogenic
NM_002340.6(LSS):c.1468-46G>A single nucleotide variant not provided [RCV001690099] Chr21:46206814 [GRCh38]
Chr21:47626728 [GRCh37]
Chr21:21q22.3		 benign
NM_002340.6(LSS):c.1989-293T>G single nucleotide variant not provided [RCV001708737] Chr21:46192252 [GRCh38]
Chr21:47612166 [GRCh37]
Chr21:21q22.3		 benign
NM_002340.6(LSS):c.648-240C>T single nucleotide variant not provided [RCV001569609] Chr21:46216764 [GRCh38]
Chr21:47636678 [GRCh37]
Chr21:21q22.3		 likely benign
NM_002340.6(LSS):c.1109+85C>T single nucleotide variant not provided [RCV001552028] Chr21:46213653 [GRCh38]
Chr21:47633567 [GRCh37]
Chr21:21q22.3		 likely benign
NM_002340.6(LSS):c.1736+36C>T single nucleotide variant not provided [RCV001665234] Chr21:46196166 [GRCh38]
Chr21:47616080 [GRCh37]
Chr21:21q22.3		 benign
NM_002340.6(LSS):c.857A>G (p.Tyr286Cys) single nucleotide variant Alopecia-intellectual disability syndrome 4 [RCV002272485]|Hypotrichosis 14 [RCV001663398]|not provided [RCV004720931] Chr21:46215720 [GRCh38]
Chr21:47635634 [GRCh37]
Chr21:21q22.3		 likely pathogenic
NM_002340.6(LSS):c.1840C>T (p.Arg614Trp) single nucleotide variant not provided [RCV001648529] Chr21:46194639 [GRCh38]
Chr21:47614553 [GRCh37]
Chr21:21q22.3		 benign
NM_002340.6(LSS):c.846C>T (p.Pro282=) single nucleotide variant not provided [RCV000949859] Chr21:46215731 [GRCh38]
Chr21:47635645 [GRCh37]
Chr21:21q22.3		 benign|likely benign
NM_002340.6(LSS):c.1865G>A (p.Arg622Gln) single nucleotide variant LSS-related disorder [RCV004535941]|not provided [RCV000965494] Chr21:46194614 [GRCh38]
Chr21:47614528 [GRCh37]
Chr21:21q22.3		 benign
NM_002340.6(LSS):c.805G>A (p.Ala269Thr) single nucleotide variant not provided [RCV000905795] Chr21:46215772 [GRCh38]
Chr21:47635686 [GRCh37]
Chr21:21q22.3		 benign
NM_002340.6(LSS):c.1788C>T (p.Phe596=) single nucleotide variant not provided [RCV000948107] Chr21:46195705 [GRCh38]
Chr21:47615619 [GRCh37]
Chr21:21q22.3		 benign|likely benign
GRCh37/hg19 21q22.3(chr21:46749869-48097372)x1 copy number loss not provided [RCV001007150] Chr21:46749869..48097372 [GRCh37]
Chr21:21q22.3		 likely pathogenic
GRCh37/hg19 21q22.3(chr21:45490774-48097372)x1 copy number loss not provided [RCV001007145] Chr21:45490774..48097372 [GRCh37]
Chr21:21q22.3		 likely pathogenic
NM_002340.6(LSS):c.2114C>A (p.Thr705Lys) single nucleotide variant Alopecia-intellectual disability syndrome 4 [RCV001034700] Chr21:46191189 [GRCh38]
Chr21:47611103 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_002340.6(LSS):c.779G>C (p.Arg260Pro) single nucleotide variant Alopecia-intellectual disability syndrome 4 [RCV001034701] Chr21:46216393 [GRCh38]
Chr21:47636307 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_002340.6(LSS):c.1194+5G>A single nucleotide variant Alopecia-intellectual disability syndrome 4 [RCV001034702]|LSS-related disorder [RCV003595659]|not provided [RCV001784569] Chr21:46210683 [GRCh38]
Chr21:47630597 [GRCh37]
Chr21:21q22.3		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_002340.6(LSS):c.35G>A (p.Gly12Asp) single nucleotide variant Alopecia-intellectual disability syndrome 4 [RCV001034703] Chr21:46228579 [GRCh38]
Chr21:47648493 [GRCh37]
Chr21:21q22.3		 pathogenic
Single allele duplication not provided [RCV000768458] Chr21:43010560..48093051 [GRCh37]
Chr21:21q22.3		 likely pathogenic
NM_002340.6(LSS):c.1710G>A (p.Gln570=) single nucleotide variant LSS-related disorder [RCV004543469]|not provided [RCV000923594] Chr21:46196228 [GRCh38]
Chr21:47616142 [GRCh37]
Chr21:21q22.3		 likely benign
NM_002340.6(LSS):c.712C>T (p.Leu238=) single nucleotide variant not provided [RCV000899746] Chr21:46216460 [GRCh38]
Chr21:47636374 [GRCh37]
Chr21:21q22.3		 likely benign
NM_002340.6(LSS):c.92G>A (p.Arg31Lys) single nucleotide variant not provided [RCV000894496] Chr21:46228522 [GRCh38]
Chr21:47648436 [GRCh37]
Chr21:21q22.3		 benign
GRCh37/hg19 21q11.2-22.3(chr21:14420615-48080926)x3 copy number gain Down syndrome [RCV002284306] Chr21:14420615..48080926 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
NM_002340.6(LSS):c.263A>T (p.Gln88Leu) single nucleotide variant Inborn genetic diseases [RCV003267911] Chr21:46227608 [GRCh38]
Chr21:47647522 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_002340.6(LSS):c.363C>T (p.Ala121=) single nucleotide variant LSS-related disorder [RCV004540135]|not provided [RCV000836753] Chr21:46222695 [GRCh38]
Chr21:47642609 [GRCh37]
Chr21:21q22.3		 benign
NM_002340.6(LSS):c.524G>A (p.Arg175Gln) single nucleotide variant LSS-related disorder [RCV004540136]|not provided [RCV000836754] Chr21:46221880 [GRCh38]
Chr21:47641794 [GRCh37]
Chr21:21q22.3		 benign
NM_002340.6(LSS):c.929A>G (p.His310Arg) single nucleotide variant LSS-related disorder [RCV004540137]|not provided [RCV000836755] Chr21:46215262 [GRCh38]
Chr21:47635176 [GRCh37]
Chr21:21q22.3		 benign
NM_002340.6(LSS):c.2063C>T (p.Pro688Leu) single nucleotide variant not provided [RCV000827453] Chr21:46191885 [GRCh38]
Chr21:47611799 [GRCh37]
Chr21:21q22.3		 benign|likely benign
NM_002340.6(LSS):c.1138-4G>T single nucleotide variant Inborn genetic diseases [RCV002536133]|LSS-related disorder [RCV004538158]|not provided [RCV000841403] Chr21:46210748 [GRCh38]
Chr21:47630662 [GRCh37]
Chr21:21q22.3		 likely benign|uncertain significance
NM_002340.6(LSS):c.551-6G>C single nucleotide variant Alopecia-intellectual disability syndrome 4 [RCV001776057]|Cataract 44 [RCV001776056]|not provided [RCV000836680] Chr21:46219578 [GRCh38]
Chr21:47639492 [GRCh37]
Chr21:21q22.3		 benign
NM_002340.6(LSS):c.784-6C>T single nucleotide variant Alopecia-intellectual disability syndrome 4 [RCV001776059]|Cataract 44 [RCV001776058]|not provided [RCV000836681] Chr21:46215799 [GRCh38]
Chr21:47635713 [GRCh37]
Chr21:21q22.3		 benign
NM_002340.6(LSS):c.864G>C (p.Pro288=) single nucleotide variant Alopecia-intellectual disability syndrome 4 [RCV001776061]|Cataract 44 [RCV001776060]|not provided [RCV000836682] Chr21:46215713 [GRCh38]
Chr21:47635627 [GRCh37]
Chr21:21q22.3		 benign
NM_002340.6(LSS):c.1924T>G (p.Leu642Val) single nucleotide variant Alopecia-intellectual disability syndrome 4 [RCV001776063]|Cataract 44 [RCV001776062]|not provided [RCV000836683] Chr21:46194555 [GRCh38]
Chr21:47614469 [GRCh37]
Chr21:21q22.3		 benign
NM_002340.6(LSS):c.1950T>C (p.His650=) single nucleotide variant not provided [RCV000836684] Chr21:46194529 [GRCh38]
Chr21:47614443 [GRCh37]
Chr21:21q22.3		 benign
GRCh37/hg19 21q22.3(chr21:45125672-48097372)x1 copy number loss not provided [RCV001007144] Chr21:45125672..48097372 [GRCh37]
Chr21:21q22.3		 uncertain significance
GRCh37/hg19 21q22.3(chr21:45866973-48097372)x1 copy number loss not provided [RCV001007146] Chr21:45866973..48097372 [GRCh37]
Chr21:21q22.3		 uncertain significance
GRCh37/hg19 21q11.2-22.3(chr21:15006457-48097372)x3 copy number gain not provided [RCV000846937] Chr21:15006457..48097372 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
NM_002340.6(LSS):c.1196C>T (p.Ala399Val) single nucleotide variant not provided [RCV003237042] Chr21:46209624 [GRCh38]
Chr21:47629538 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_002340.6(LSS):c.1942C>T (p.Gln648Ter) single nucleotide variant not provided [RCV001573603] Chr21:46194537 [GRCh38]
Chr21:47614451 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_002340.6(LSS):c.180+160C>T single nucleotide variant not provided [RCV001574502] Chr21:46228274 [GRCh38]
Chr21:47648188 [GRCh37]
Chr21:21q22.3		 likely benign
NM_002340.6(LSS):c.181-27dup duplication Cataract 44 [RCV002506674]|not provided [RCV001567187] Chr21:46227704..46227705 [GRCh38]
Chr21:47647618..47647619 [GRCh37]
Chr21:21q22.3		 benign|likely benign
NM_002340.6(LSS):c.1110-29A>G single nucleotide variant not provided [RCV001671206] Chr21:46213081 [GRCh38]
Chr21:47632995 [GRCh37]
Chr21:21q22.3		 benign
NM_002340.6(LSS):c.428+130G>A single nucleotide variant not provided [RCV001614748] Chr21:46222500 [GRCh38]
Chr21:47642414 [GRCh37]
Chr21:21q22.3		 benign
NM_002340.6(LSS):c.*33G>A single nucleotide variant not provided [RCV001617775] Chr21:46191071 [GRCh38]
Chr21:47610985 [GRCh37]
Chr21:21q22.3		 benign
NM_002340.6(LSS):c.1818-85C>A single nucleotide variant not provided [RCV001675213] Chr21:46194746 [GRCh38]
Chr21:47614660 [GRCh37]
Chr21:21q22.3		 benign
NM_002340.6(LSS):c.2068-273G>A single nucleotide variant not provided [RCV001555049] Chr21:46191508 [GRCh38]
Chr21:47611422 [GRCh37]
Chr21:21q22.3		 likely benign
NM_002340.6(LSS):c.428+272G>A single nucleotide variant not provided [RCV001695598] Chr21:46222358 [GRCh38]
Chr21:47642272 [GRCh37]
Chr21:21q22.3		 benign
NM_002340.6(LSS):c.1467+252C>T single nucleotide variant not provided [RCV001556026] Chr21:46207176 [GRCh38]
Chr21:47627090 [GRCh37]
Chr21:21q22.3		 likely benign
NM_002340.6(LSS):c.1467+236C>T single nucleotide variant not provided [RCV001589674] Chr21:46207192 [GRCh38]
Chr21:47627106 [GRCh37]
Chr21:21q22.3		 likely benign
NM_002340.6(LSS):c.550+216C>G single nucleotide variant not provided [RCV001562811] Chr21:46221638 [GRCh38]
Chr21:47641552 [GRCh37]
Chr21:21q22.3		 likely benign
NM_002340.6(LSS):c.428+221G>C single nucleotide variant not provided [RCV001652579] Chr21:46222409 [GRCh38]
Chr21:47642323 [GRCh37]
Chr21:21q22.3		 benign
NM_002340.6(LSS):c.647G>A (p.Trp216Ter) single nucleotide variant Alopecia-intellectual disability syndrome 4 [RCV002272486]|Hypotrichosis 14 [RCV001663399]|not provided [RCV003771825] Chr21:46219476 [GRCh38]
Chr21:47639390 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_002340.6(LSS):c.1565-249C>T single nucleotide variant not provided [RCV001614631] Chr21:46206190 [GRCh38]
Chr21:47626104 [GRCh37]
Chr21:21q22.3		 benign
NM_002340.6(LSS):c.2068-209T>C single nucleotide variant not provided [RCV001670543] Chr21:46191444 [GRCh38]
Chr21:47611358 [GRCh37]
Chr21:21q22.3		 benign
NM_002340.6(LSS):c.551-62G>A single nucleotide variant not provided [RCV001665899] Chr21:46219634 [GRCh38]
Chr21:47639548 [GRCh37]
Chr21:21q22.3		 benign
NM_002340.6(LSS):c.1195-31C>T single nucleotide variant not provided [RCV001677254] Chr21:46209656 [GRCh38]
Chr21:47629570 [GRCh37]
Chr21:21q22.3		 benign
NM_002340.6(LSS):c.1267-97C>T single nucleotide variant not provided [RCV001540325] Chr21:46208398 [GRCh38]
Chr21:47628312 [GRCh37]
Chr21:21q22.3		 likely benign
NM_002340.6(LSS):c.752C>T (p.Ala251Val) single nucleotide variant Cataract 44 [RCV002479121]|not provided [RCV000965495] Chr21:46216420 [GRCh38]
Chr21:47636334 [GRCh37]
Chr21:21q22.3		 benign|likely benign
NM_002340.6(LSS):c.860C>T (p.Thr287Met) single nucleotide variant not provided [RCV000896080] Chr21:46215717 [GRCh38]
Chr21:47635631 [GRCh37]
Chr21:21q22.3		 benign|likely benign
NM_002340.6(LSS):c.1548C>T (p.Asn516=) single nucleotide variant LSS-related disorder [RCV004533684]|not provided [RCV000955593] Chr21:46206688 [GRCh38]
Chr21:47626602 [GRCh37]
Chr21:21q22.3		 benign
NC_000021.9:g.46228813A>C single nucleotide variant not provided [RCV001545111] Chr21:46228813 [GRCh38]
Chr21:47648727 [GRCh37]
Chr21:21q22.3		 likely benign
NM_002340.6(LSS):c.1267-128G>A single nucleotide variant not provided [RCV001545153] Chr21:46208429 [GRCh38]
Chr21:47628343 [GRCh37]
Chr21:21q22.3		 likely benign
NM_002340.6(LSS):c.892+54C>T single nucleotide variant not provided [RCV001676944] Chr21:46215631 [GRCh38]
Chr21:47635545 [GRCh37]
Chr21:21q22.3		 benign
NM_002340.6(LSS):c.550+277G>A single nucleotide variant not provided [RCV001554960] Chr21:46221577 [GRCh38]
Chr21:47641491 [GRCh37]
Chr21:21q22.3		 likely benign
NM_002340.6(LSS):c.1012-40G>C single nucleotide variant not provided [RCV001688134] Chr21:46213875 [GRCh38]
Chr21:47633789 [GRCh37]
Chr21:21q22.3		 benign
NM_002340.6(LSS):c.1138-304C>T single nucleotide variant not provided [RCV001621525] Chr21:46211048 [GRCh38]
Chr21:47630962 [GRCh37]
Chr21:21q22.3		 benign
NM_002340.6(LSS):c.1011+179C>T single nucleotide variant not provided [RCV001608340] Chr21:46215001 [GRCh38]
Chr21:47634915 [GRCh37]
Chr21:21q22.3		 benign
NM_002340.6(LSS):c.892+22G>A single nucleotide variant not provided [RCV001675328] Chr21:46215663 [GRCh38]
Chr21:47635577 [GRCh37]
Chr21:21q22.3		 benign
NM_002340.6(LSS):c.180+124C>T single nucleotide variant not provided [RCV001652694] Chr21:46228310 [GRCh38]
Chr21:47648224 [GRCh37]
Chr21:21q22.3		 benign
NM_002340.6(LSS):c.1266+200C>T single nucleotide variant not provided [RCV001686524] Chr21:46209354 [GRCh38]
Chr21:47629268 [GRCh37]
Chr21:21q22.3		 benign
NM_002340.6(LSS):c.429-127G>A single nucleotide variant not provided [RCV001652753] Chr21:46222102 [GRCh38]
Chr21:47642016 [GRCh37]
Chr21:21q22.3		 benign
NM_002340.6(LSS):c.1467+97G>T single nucleotide variant not provided [RCV001685924] Chr21:46207331 [GRCh38]
Chr21:47627245 [GRCh37]
Chr21:21q22.3		 benign
NM_002340.6(LSS):c.320-262T>A single nucleotide variant not provided [RCV001621641] Chr21:46223000 [GRCh38]
Chr21:47642914 [GRCh37]
Chr21:21q22.3		 benign
NC_000021.9:g.46228958A>G single nucleotide variant not provided [RCV001621862] Chr21:46228958 [GRCh38]
Chr21:47648872 [GRCh37]
Chr21:21q22.3		 benign
NM_002340.6(LSS):c.784-176G>A single nucleotide variant not provided [RCV001683799] Chr21:46215969 [GRCh38]
Chr21:47635883 [GRCh37]
Chr21:21q22.3		 benign
NM_002340.6(LSS):c.429-107G>C single nucleotide variant not provided [RCV001677067] Chr21:46222082 [GRCh38]
Chr21:47641996 [GRCh37]
Chr21:21q22.3		 benign
NM_002340.6(LSS):c.2068-161T>C single nucleotide variant not provided [RCV001617408] Chr21:46191396 [GRCh38]
Chr21:47611310 [GRCh37]
Chr21:21q22.3		 benign
NM_002340.6(LSS):c.1318-227_1318-226del deletion not provided [RCV001598964] Chr21:46207803..46207804 [GRCh38]
Chr21:47627717..47627718 [GRCh37]
Chr21:21q22.3		 benign
NM_002340.6(LSS):c.893-93dup duplication not provided [RCV001671739] Chr21:46215388..46215389 [GRCh38]
Chr21:47635302..47635303 [GRCh37]
Chr21:21q22.3		 benign
NM_002340.6(LSS):c.1898T>C (p.Phe633Ser) single nucleotide variant not provided [RCV001531980] Chr21:46194581 [GRCh38]
Chr21:47614495 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_002340.6(LSS):c.1267-160C>A single nucleotide variant not provided [RCV001684369] Chr21:46208461 [GRCh38]
Chr21:47628375 [GRCh37]
Chr21:21q22.3		 benign
NM_002340.6(LSS):c.1817+89GTTT[5] microsatellite not provided [RCV001667970] Chr21:46195564..46195567 [GRCh38]
Chr21:47615478..47615481 [GRCh37]
Chr21:21q22.3		 benign
NM_002340.6(LSS):c.1195-43G>A single nucleotide variant not provided [RCV001588760] Chr21:46209668 [GRCh38]
Chr21:47629582 [GRCh37]
Chr21:21q22.3		 likely benign
NM_002340.6(LSS):c.1736+45C>G single nucleotide variant not provided [RCV001696054] Chr21:46196157 [GRCh38]
Chr21:47616071 [GRCh37]
Chr21:21q22.3		 benign
NM_002340.6(LSS):c.1988+211A>C single nucleotide variant not provided [RCV001685932] Chr21:46194280 [GRCh38]
Chr21:47614194 [GRCh37]
Chr21:21q22.3		 benign
NM_002340.6(LSS):c.1137+55T>C single nucleotide variant not provided [RCV001672109] Chr21:46212970 [GRCh38]
Chr21:47632884 [GRCh37]
Chr21:21q22.3		 benign
NM_002340.6(LSS):c.1138-293A>G single nucleotide variant not provided [RCV001690114] Chr21:46211037 [GRCh38]
Chr21:47630951 [GRCh37]
Chr21:21q22.3		 benign
NM_002340.6(LSS):c.784-149G>C single nucleotide variant not provided [RCV001609963] Chr21:46215942 [GRCh38]
Chr21:47635856 [GRCh37]
Chr21:21q22.3		 benign
NM_002340.6(LSS):c.1138-302G>A single nucleotide variant not provided [RCV001709383] Chr21:46211046 [GRCh38]
Chr21:47630960 [GRCh37]
Chr21:21q22.3		 benign
NM_002340.6(LSS):c.2068-136A>G single nucleotide variant not provided [RCV001692641] Chr21:46191371 [GRCh38]
Chr21:47611285 [GRCh37]
Chr21:21q22.3		 benign
NM_002340.6(LSS):c.1737-221C>T single nucleotide variant not provided [RCV001584740] Chr21:46195977 [GRCh38]
Chr21:47615891 [GRCh37]
Chr21:21q22.3		 likely benign
NM_002340.6(LSS):c.893-8C>T single nucleotide variant not provided [RCV001641773] Chr21:46215306 [GRCh38]
Chr21:47635220 [GRCh37]
Chr21:21q22.3		 benign
NM_002340.6(LSS):c.181-16_181-15del deletion Alopecia-intellectual disability syndrome 4 [RCV001776301]|Cataract 44 [RCV001776300]|not provided [RCV001710979] Chr21:46227705..46227706 [GRCh38]
Chr21:47647619..47647620 [GRCh37]
Chr21:21q22.3		 benign
NM_002340.6(LSS):c.1138-204C>T single nucleotide variant not provided [RCV001694872] Chr21:46210948 [GRCh38]
Chr21:47630862 [GRCh37]
Chr21:21q22.3		 benign
NM_002340.6(LSS):c.428+147G>A single nucleotide variant not provided [RCV001696663] Chr21:46222483 [GRCh38]
Chr21:47642397 [GRCh37]
Chr21:21q22.3		 benign
GRCh37/hg19 21q22.3(chr21:43472147-48097372)x1 copy number loss not provided [RCV001007138] Chr21:43472147..48097372 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_002340.6(LSS):c.1547A>G (p.Asn516Ser) single nucleotide variant Alopecia-intellectual disability syndrome 4 [RCV001034699]|not provided [RCV003127588] Chr21:46206689 [GRCh38]
Chr21:47626603 [GRCh37]
Chr21:21q22.3		 pathogenic|uncertain significance
GRCh37/hg19 21q22.2-22.3(chr21:42044877-48100155)x3 copy number gain See cases [RCV001007433] Chr21:42044877..48100155 [GRCh37]
Chr21:21q22.2-22.3		 pathogenic
NM_002340.6(LSS):c.1109+2T>C single nucleotide variant Alopecia-intellectual disability syndrome 4 [RCV001261953] Chr21:46213736 [GRCh38]
Chr21:47633650 [GRCh37]
Chr21:21q22.3		 pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:14629063-48090317)x3 copy number gain See cases [RCV001263025] Chr21:14629063..48090317 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
GRCh37/hg19 21q22.3(chr21:42679089-48097372) copy number loss Delayed speech and language development [RCV002280704] Chr21:42679089..48097372 [GRCh37]
Chr21:21q22.3		 pathogenic
GRCh37/hg19 21q22.3(chr21:47279953-48097372)x3 copy number gain not provided [RCV001259417] Chr21:47279953..48097372 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_002340.6(LSS):c.1895A>G (p.Asp632Gly) single nucleotide variant Inborn genetic diseases [RCV001265710] Chr21:46194584 [GRCh38]
Chr21:47614498 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_002340.6(LSS):c.386G>C (p.Arg129Pro) single nucleotide variant Inborn genetic diseases [RCV001265711] Chr21:46222672 [GRCh38]
Chr21:47642586 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_002340.6(LSS):c.1817+187C>G single nucleotide variant not provided [RCV001581338] Chr21:46195489 [GRCh38]
Chr21:47615403 [GRCh37]
Chr21:21q22.3		 likely benign
NM_002340.6(LSS):c.1228T>C (p.Cys410Arg) single nucleotide variant Cataract 44 [RCV001329443] Chr21:46209592 [GRCh38]
Chr21:47629506 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_002340.6(LSS):c.429-1G>A single nucleotide variant Alopecia-intellectual disability syndrome 4 [RCV001421019] Chr21:46221976 [GRCh38]
Chr21:47641890 [GRCh37]
Chr21:21q22.3		 likely pathogenic
NM_002340.6(LSS):c.319+84A>T single nucleotide variant not provided [RCV001538666] Chr21:46227468 [GRCh38]
Chr21:47647382 [GRCh37]
Chr21:21q22.3		 benign
NM_002340.6(LSS):c.347G>A (p.Arg116His) single nucleotide variant Cataract 44 [RCV001335487] Chr21:46222711 [GRCh38]
Chr21:47642625 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_002340.6(LSS):c.550+68C>A single nucleotide variant not provided [RCV001539346] Chr21:46221786 [GRCh38]
Chr21:47641700 [GRCh37]
Chr21:21q22.3		 benign
NM_002340.6(LSS):c.1988+236A>G single nucleotide variant not provided [RCV001541182] Chr21:46194255 [GRCh38]
Chr21:47614169 [GRCh37]
Chr21:21q22.3		 benign
NM_002340.6(LSS):c.648-119C>T single nucleotide variant not provided [RCV001679498] Chr21:46216643 [GRCh38]
Chr21:47636557 [GRCh37]
Chr21:21q22.3		 benign
NM_002340.6(LSS):c.1670+92A>G single nucleotide variant not provided [RCV001671443] Chr21:46205744 [GRCh38]
Chr21:47625658 [GRCh37]
Chr21:21q22.3		 benign
NM_002340.6(LSS):c.*78del deletion not provided [RCV001713631] Chr21:46191026 [GRCh38]
Chr21:47610940 [GRCh37]
Chr21:21q22.3		 benign
NM_002340.6(LSS):c.648-269G>A single nucleotide variant not provided [RCV001615773] Chr21:46216793 [GRCh38]
Chr21:47636707 [GRCh37]
Chr21:21q22.3		 benign
NM_002340.6(LSS):c.1194+52G>A single nucleotide variant not provided [RCV001691475] Chr21:46210636 [GRCh38]
Chr21:47630550 [GRCh37]
Chr21:21q22.3		 benign
NM_002340.6(LSS):c.1670+206G>A single nucleotide variant not provided [RCV001695805] Chr21:46205630 [GRCh38]
Chr21:47625544 [GRCh37]
Chr21:21q22.3		 benign
NM_002340.6(LSS):c.1988+8C>T single nucleotide variant LSS-related disorder [RCV004536219]|not provided [RCV001587783] Chr21:46194483 [GRCh38]
Chr21:47614397 [GRCh37]
Chr21:21q22.3		 benign|likely benign
NM_002340.6(LSS):c.319+27G>T single nucleotide variant not provided [RCV001618083] Chr21:46227525 [GRCh38]
Chr21:47647439 [GRCh37]
Chr21:21q22.3		 benign
NM_002340.6(LSS):c.1468-77G>T single nucleotide variant not provided [RCV001616608] Chr21:46206845 [GRCh38]
Chr21:47626759 [GRCh37]
Chr21:21q22.3		 benign
NM_002340.6(LSS):c.2067+250C>T single nucleotide variant not provided [RCV001583458] Chr21:46191631 [GRCh38]
Chr21:47611545 [GRCh37]
Chr21:21q22.3		 likely benign
NM_002340.6(LSS):c.232C>G (p.Leu78Val) single nucleotide variant Developmental cataract [RCV001775027] Chr21:46227639 [GRCh38]
Chr21:47647553 [GRCh37]
Chr21:21q22.3		 uncertain significance
GRCh37/hg19 21q22.3(chr21:46922436-48097372)x3 copy number gain not provided [RCV001834168] Chr21:46922436..48097372 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_002340.6(LSS):c.1109+5G>A single nucleotide variant not provided [RCV001770669] Chr21:46213733 [GRCh38]
Chr21:47633647 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_002340.6(LSS):c.1417dup (p.His473fs) duplication not provided [RCV001782404] Chr21:46207477..46207478 [GRCh38]
Chr21:47627391..47627392 [GRCh37]
Chr21:21q22.3		 likely pathogenic
NM_002340.6(LSS):c.779G>A (p.Arg260His) single nucleotide variant Inborn genetic diseases [RCV002540292]|not provided [RCV001770929] Chr21:46216393 [GRCh38]
Chr21:47636307 [GRCh37]
Chr21:21q22.3		 uncertain significance
GRCh37/hg19 21p13-q22.3(chr21:1-48129895)x3 copy number gain See cases [RCV001780078] Chr21:1..48129895 [GRCh37]
Chr21:21p13-q22.3		 pathogenic
NM_002340.6(LSS):c.473A>G (p.Tyr158Cys) single nucleotide variant not provided [RCV001774586] Chr21:46221931 [GRCh38]
Chr21:47641845 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_002340.6(LSS):c.1054G>A (p.Gly352Arg) single nucleotide variant not provided [RCV001770930] Chr21:46213793 [GRCh38]
Chr21:47633707 [GRCh37]
Chr21:21q22.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_002340.6(LSS):c.620G>C (p.Gly207Ala) single nucleotide variant not provided [RCV001757092] Chr21:46219503 [GRCh38]
Chr21:47639417 [GRCh37]
Chr21:21q22.3		 uncertain significance
NC_000021.8:g.(?_44838120)_(47865240_?)del deletion not provided [RCV001987971] Chr21:44838120..47865240 [GRCh37]
Chr21:21q22.3		 uncertain significance
GRCh37/hg19 21q11.2-22.3(chr21:15006457-48097372)x3 copy number gain not provided [RCV001829203] Chr21:15006457..48097372 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
GRCh37/hg19 21q22.2-22.3(chr21:42410406-48097372) copy number loss not specified [RCV002052739] Chr21:42410406..48097372 [GRCh37]
Chr21:21q22.2-22.3		 pathogenic
GRCh37/hg19 21q22.3(chr21:47515748-47797894)x3 copy number gain not provided [RCV001829138] Chr21:47515748..47797894 [GRCh37]
Chr21:21q22.3		 uncertain significance
GRCh37/hg19 21q11.2-22.3(chr21:15041209-48097372) copy number gain not specified [RCV002052724] Chr21:15041209..48097372 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
GRCh37/hg19 21q22.3(chr21:45773272-48097372) copy number loss not specified [RCV002052744] Chr21:45773272..48097372 [GRCh37]
Chr21:21q22.3		 pathogenic
NC_000021.8:g.(?_47531391)_(47666820_?)dup duplication not provided [RCV001987592] Chr21:47531391..47666820 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_002340.6(LSS):c.1947C>G (p.Ile649Met) single nucleotide variant not provided [RCV001983787] Chr21:46194532 [GRCh38]
Chr21:47614446 [GRCh37]
Chr21:21q22.3		 uncertain significance
GRCh37/hg19 21q11.2-22.3(chr21:15006457-48097372) copy number gain not specified [RCV002052723] Chr21:15006457..48097372 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
NC_000021.8:g.(?_43160998)_(47865240_?)dup duplication Cataract 9 multiple types [RCV001913783]|Developmental and epileptic encephalopathy, 30 [RCV003120744]|Primary ciliary dyskinesia [RCV001913782] Chr21:43160998..47865240 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_002340.6(LSS):c.1670G>A (p.Arg557Gln) single nucleotide variant not provided [RCV001946058] Chr21:46205836 [GRCh38]
Chr21:47625750 [GRCh37]
Chr21:21q22.3		 uncertain significance
NC_000021.8:g.(?_45919666)_(47865240_?)del deletion not provided [RCV001947021] Chr21:45919666..47865240 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_002340.6(LSS):c.530G>A (p.Arg177Gln) single nucleotide variant not provided [RCV002052322] Chr21:46221874 [GRCh38]
Chr21:47641788 [GRCh37]
Chr21:21q22.3		 pathogenic|likely pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15285841-48097372) copy number gain not specified [RCV002052725] Chr21:15285841..48097372 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
NC_000021.8:g.(?_46306283)_(47865240_?)del deletion not provided [RCV001943317] Chr21:46306283..47865240 [GRCh37]
Chr21:21q22.3		 uncertain significance
NC_000021.8:g.(?_43160998)_(47865240_?)del deletion HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED [RCV001956307] Chr21:43160998..47865240 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_002340.6(LSS):c.1348G>A (p.Gly450Ser) single nucleotide variant not provided [RCV001951939] Chr21:46207547 [GRCh38]
Chr21:47627461 [GRCh37]
Chr21:21q22.3		 uncertain significance
NC_000021.8:g.(?_47401765)_(47705200_?)del deletion not provided [RCV001950809] Chr21:47401765..47705200 [GRCh37]
Chr21:21q22.3		 pathogenic
NC_000021.8:g.(?_44473990)_(47865240_?)dup duplication not provided [RCV002011965] Chr21:44473990..47865240 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_002340.6(LSS):c.15-12G>C single nucleotide variant not provided [RCV002130444] Chr21:46228611 [GRCh38]
Chr21:47648525 [GRCh37]
Chr21:21q22.3		 likely benign
NM_002340.6(LSS):c.181-17_181-15del deletion not provided [RCV002110059] Chr21:46227705..46227707 [GRCh38]
Chr21:47647619..47647621 [GRCh37]
Chr21:21q22.3		 benign
NM_002340.6(LSS):c.1988+114C>G single nucleotide variant not provided [RCV002244381] Chr21:46194377 [GRCh38]
Chr21:47614291 [GRCh37]
Chr21:21q22.3		 likely benign
NM_002340.6(LSS):c.1989-20T>G single nucleotide variant not provided [RCV002112910] Chr21:46191979 [GRCh38]
Chr21:47611893 [GRCh37]
Chr21:21q22.3		 benign
NM_002340.6(LSS):c.15-13C>G single nucleotide variant not provided [RCV002148594] Chr21:46228612 [GRCh38]
Chr21:47648526 [GRCh37]
Chr21:21q22.3		 likely benign
NM_002340.6(LSS):c.1122C>T (p.Asp374=) single nucleotide variant not provided [RCV002082226] Chr21:46213040 [GRCh38]
Chr21:47632954 [GRCh37]
Chr21:21q22.3		 likely benign
NM_002340.6(LSS):c.1215C>T (p.Pro405=) single nucleotide variant not provided [RCV002121934] Chr21:46209605 [GRCh38]
Chr21:47629519 [GRCh37]
Chr21:21q22.3		 likely benign
NM_002340.6(LSS):c.893C>T (p.Ala298Val) single nucleotide variant LSS-related disorder [RCV004543695]|not provided [RCV002156879] Chr21:46215298 [GRCh38]
Chr21:47635212 [GRCh37]
Chr21:21q22.3		 benign
NM_002340.6(LSS):c.1137+20G>A single nucleotide variant not provided [RCV002136636] Chr21:46213005 [GRCh38]
Chr21:47632919 [GRCh37]
Chr21:21q22.3		 benign
NM_002340.6(LSS):c.1164C>T (p.Asp388=) single nucleotide variant not provided [RCV002138829] Chr21:46210718 [GRCh38]
Chr21:47630632 [GRCh37]
Chr21:21q22.3		 benign|likely benign
NC_000021.8:g.(?_43160998)_(47754702_?)del deletion Developmental and epileptic encephalopathy, 30 [RCV003119312]|Progressive myoclonic epilepsy [RCV003119311] Chr21:43160998..47754702 [GRCh37]
Chr21:21q22.3		 pathogenic|uncertain significance
NM_002340.6(LSS):c.1194G>A (p.Glu398=) single nucleotide variant Alopecia-intellectual disability syndrome 4 [RCV002275637] Chr21:46210688 [GRCh38]
Chr21:47630602 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_002340.6(LSS):c.22C>G (p.Arg8Gly) single nucleotide variant Alopecia-intellectual disability syndrome 4 [RCV002275638] Chr21:46228592 [GRCh38]
Chr21:47648506 [GRCh37]
Chr21:21q22.3		 uncertain significance
GRCh37/hg19 21q22.3(chr21:47533920-48084286)x1 copy number loss not provided [RCV002276432] Chr21:47533920..48084286 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_002340.6(LSS):c.1110-222C>G single nucleotide variant not provided [RCV002267244] Chr21:46213274 [GRCh38]
Chr21:47633188 [GRCh37]
Chr21:21q22.3		 likely benign
NM_002340.6(LSS):c.1955C>T (p.Thr652Ile) single nucleotide variant Alopecia-intellectual disability syndrome 4 [RCV002286513] Chr21:46194524 [GRCh38]
Chr21:47614438 [GRCh37]
Chr21:21q22.3		 pathogenic
NC_000021.9:g.46228667_46229005del deletion Alopecia-intellectual disability syndrome 4 [RCV002286514] Chr21:46228666..46229004 [GRCh38]
Chr21:47648580..47648918 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_002340.6(LSS):c.1267-145C>T single nucleotide variant not provided [RCV002267248] Chr21:46208446 [GRCh38]
Chr21:47628360 [GRCh37]
Chr21:21q22.3		 likely benign
NM_002340.6(LSS):c.1147G>A (p.Gly383Ser) single nucleotide variant not provided [RCV002293699] Chr21:46210735 [GRCh38]
Chr21:47630649 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_002340.6(LSS):c.831G>C (p.Arg277Ser) single nucleotide variant Hypotrichosis 14 [RCV003237330] Chr21:46215746 [GRCh38]
Chr21:47635660 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_002340.6(LSS):c.647+32G>A single nucleotide variant not provided [RCV002267254] Chr21:46219444 [GRCh38]
Chr21:47639358 [GRCh37]
Chr21:21q22.3		 likely benign
NM_002340.6(LSS):c.2149_2161del (p.Gly717fs) deletion Hypotrichosis 14 [RCV002471513]|not provided [RCV002573608] Chr21:46191142..46191154 [GRCh38]
Chr21:47611056..47611068 [GRCh37]
Chr21:21q22.3		 uncertain significance
GRCh37/hg19 21q22.3(chr21:47500415-48097372)x1 copy number loss not provided [RCV002472844] Chr21:47500415..48097372 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_002340.6(LSS):c.1194+14_1194+16del deletion not provided [RCV002771304] Chr21:46210672..46210674 [GRCh38]
Chr21:47630586..47630588 [GRCh37]
Chr21:21q22.3		 likely benign
NM_002340.6(LSS):c.339C>T (p.His113=) single nucleotide variant LSS-related disorder [RCV004545445]|not provided [RCV002948199] Chr21:46222719 [GRCh38]
Chr21:47642633 [GRCh37]
Chr21:21q22.3		 likely benign
NM_002340.6(LSS):c.1060G>A (p.Ala354Thr) single nucleotide variant Inborn genetic diseases [RCV002689723] Chr21:46213787 [GRCh38]
Chr21:47633701 [GRCh37]
Chr21:21q22.3		 likely benign
GRCh37/hg19 21q22.3(chr21:47563980-48097372)x3 copy number gain not provided [RCV002475657] Chr21:47563980..48097372 [GRCh37]
Chr21:21q22.3		 uncertain significance
GRCh37/hg19 21q22.3(chr21:46882064-47963149)x3 copy number gain not provided [RCV002475631] Chr21:46882064..47963149 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_002340.6(LSS):c.881G>A (p.Arg294His) single nucleotide variant not provided [RCV002971826] Chr21:46215696 [GRCh38]
Chr21:47635610 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_002340.6(LSS):c.1434C>G (p.Ile478Met) single nucleotide variant Inborn genetic diseases [RCV002793647] Chr21:46207461 [GRCh38]
Chr21:47627375 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_002340.6(LSS):c.838G>A (p.Val280Met) single nucleotide variant Inborn genetic diseases [RCV002784637] Chr21:46215739 [GRCh38]
Chr21:47635653 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_002340.6(LSS):c.405G>T (p.Gln135His) single nucleotide variant Inborn genetic diseases [RCV002910380] Chr21:46222653 [GRCh38]
Chr21:47642567 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_002340.6(LSS):c.1003A>G (p.Ile335Val) single nucleotide variant Inborn genetic diseases [RCV002868524] Chr21:46215188 [GRCh38]
Chr21:47635102 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_002340.6(LSS):c.1878C>T (p.Asp626=) single nucleotide variant not provided [RCV002909525] Chr21:46194601 [GRCh38]
Chr21:47614515 [GRCh37]
Chr21:21q22.3		 likely benign
NM_002340.6(LSS):c.1564G>A (p.Gly522Arg) single nucleotide variant not provided [RCV002909179] Chr21:46206672 [GRCh38]
Chr21:47626586 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_002340.6(LSS):c.15-5C>G single nucleotide variant Inborn genetic diseases [RCV002844695] Chr21:46228604 [GRCh38]
Chr21:47648518 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_002340.6(LSS):c.897C>G (p.Leu299=) single nucleotide variant not provided [RCV002796633] Chr21:46215294 [GRCh38]
Chr21:47635208 [GRCh37]
Chr21:21q22.3		 likely benign
NM_002340.6(LSS):c.1529A>G (p.His510Arg) single nucleotide variant not provided [RCV002847010] Chr21:46206707 [GRCh38]
Chr21:47626621 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_002340.6(LSS):c.2193C>A (p.His731Gln) single nucleotide variant Inborn genetic diseases [RCV002924420] Chr21:46191110 [GRCh38]
Chr21:47611024 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_002340.6(LSS):c.180+2dup duplication not provided [RCV003021506] Chr21:46228431..46228432 [GRCh38]
Chr21:47648345..47648346 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_002340.6(LSS):c.1693G>C (p.Glu565Gln) single nucleotide variant not provided [RCV002592218] Chr21:46196245 [GRCh38]
Chr21:47616159 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_002340.6(LSS):c.736G>A (p.Val246Ile) single nucleotide variant Inborn genetic diseases [RCV002924935] Chr21:46216436 [GRCh38]
Chr21:47636350 [GRCh37]
Chr21:21q22.3		 likely benign
NM_002340.6(LSS):c.1444C>T (p.Arg482Trp) single nucleotide variant Inborn genetic diseases [RCV002659970] Chr21:46207451 [GRCh38]
Chr21:47627365 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_002340.6(LSS):c.648-7G>T single nucleotide variant not provided [RCV002638495] Chr21:46216531 [GRCh38]
Chr21:47636445 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_002340.6(LSS):c.700C>T (p.Arg234Trp) single nucleotide variant not provided [RCV002645762] Chr21:46216472 [GRCh38]
Chr21:47636386 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_002340.6(LSS):c.1670+7A>C single nucleotide variant not provided [RCV003043300] Chr21:46205829 [GRCh38]
Chr21:47625743 [GRCh37]
Chr21:21q22.3		 likely benign
NM_002340.6(LSS):c.740G>A (p.Arg247Gln) single nucleotide variant Inborn genetic diseases [RCV002983944] Chr21:46216432 [GRCh38]
Chr21:47636346 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_002340.6(LSS):c.15-12G>A single nucleotide variant not provided [RCV002786748] Chr21:46228611 [GRCh38]
Chr21:47648525 [GRCh37]
Chr21:21q22.3		 benign
NM_002340.6(LSS):c.416G>A (p.Gly139Asp) single nucleotide variant Inborn genetic diseases [RCV002930452] Chr21:46222642 [GRCh38]
Chr21:47642556 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_002340.6(LSS):c.1818-15C>T single nucleotide variant not provided [RCV002574352] Chr21:46194676 [GRCh38]
Chr21:47614590 [GRCh37]
Chr21:21q22.3		 likely benign
NM_002340.6(LSS):c.1467+6G>A single nucleotide variant Inborn genetic diseases [RCV002930594] Chr21:46207422 [GRCh38]
Chr21:47627336 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_002340.6(LSS):c.1383G>C (p.Leu461Phe) single nucleotide variant Inborn genetic diseases [RCV002826587] Chr21:46207512 [GRCh38]
Chr21:47627426 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_002340.6(LSS):c.443del (p.Lys148fs) deletion not provided [RCV003025076] Chr21:46221961 [GRCh38]
Chr21:47641875 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_002340.6(LSS):c.1267-13C>T single nucleotide variant not provided [RCV002786622] Chr21:46208314 [GRCh38]
Chr21:47628228 [GRCh37]
Chr21:21q22.3		 likely benign
NM_002340.6(LSS):c.2073C>T (p.Asn691=) single nucleotide variant not provided [RCV002626370] Chr21:46191230 [GRCh38]
Chr21:47611144 [GRCh37]
Chr21:21q22.3		 likely benign
NM_002340.6(LSS):c.346C>T (p.Arg116Cys) single nucleotide variant LSS-related disorder [RCV004536439]|not provided [RCV002917362] Chr21:46222712 [GRCh38]
Chr21:47642626 [GRCh37]
Chr21:21q22.3		 likely benign
NM_002340.6(LSS):c.2051A>G (p.Asn684Ser) single nucleotide variant Inborn genetic diseases [RCV002964508] Chr21:46191897 [GRCh38]
Chr21:47611811 [GRCh37]
Chr21:21q22.3		 likely benign|uncertain significance
NM_002340.6(LSS):c.893-7C>A single nucleotide variant not provided [RCV003086335] Chr21:46215305 [GRCh38]
Chr21:47635219 [GRCh37]
Chr21:21q22.3		 likely benign
NM_002340.6(LSS):c.1011G>A (p.Pro337=) single nucleotide variant not provided [RCV002602855] Chr21:46215180 [GRCh38]
Chr21:47635094 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_002340.6(LSS):c.1639C>T (p.Arg547Cys) single nucleotide variant not provided [RCV002597874] Chr21:46205867 [GRCh38]
Chr21:47625781 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_002340.6(LSS):c.14+12C>G single nucleotide variant not provided [RCV002720552] Chr21:46228720 [GRCh38]
Chr21:47648634 [GRCh37]
Chr21:21q22.3		 likely benign
NM_002340.6(LSS):c.158C>T (p.Ala53Val) single nucleotide variant Inborn genetic diseases [RCV002941193] Chr21:46228456 [GRCh38]
Chr21:47648370 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_002340.6(LSS):c.422G>A (p.Trp141Ter) single nucleotide variant not provided [RCV003009344] Chr21:46222636 [GRCh38]
Chr21:47642550 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_002340.6(LSS):c.733G>A (p.Ala245Thr) single nucleotide variant not provided [RCV002770514] Chr21:46216439 [GRCh38]
Chr21:47636353 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_002340.6(LSS):c.1527G>T (p.Gly509=) single nucleotide variant not provided [RCV003045981] Chr21:46206709 [GRCh38]
Chr21:47626623 [GRCh37]
Chr21:21q22.3		 likely benign
NM_002340.6(LSS):c.613T>A (p.Trp205Arg) single nucleotide variant Inborn genetic diseases [RCV002808669] Chr21:46219510 [GRCh38]
Chr21:47639424 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_002340.6(LSS):c.1313G>A (p.Arg438His) single nucleotide variant not provided [RCV002599245] Chr21:46208255 [GRCh38]
Chr21:47628169 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_002340.6(LSS):c.1822G>A (p.Ala608Thr) single nucleotide variant Inborn genetic diseases [RCV002963751] Chr21:46194657 [GRCh38]
Chr21:47614571 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_002340.6(LSS):c.1380C>T (p.Ala460=) single nucleotide variant not provided [RCV002937845] Chr21:46207515 [GRCh38]
Chr21:47627429 [GRCh37]
Chr21:21q22.3		 benign
NM_002340.6(LSS):c.1817+8A>C single nucleotide variant not provided [RCV002922613] Chr21:46195668 [GRCh38]
Chr21:47615582 [GRCh37]
Chr21:21q22.3		 likely benign
NM_002340.6(LSS):c.1647G>A (p.Pro549=) single nucleotide variant not provided [RCV002631048] Chr21:46205859 [GRCh38]
Chr21:47625773 [GRCh37]
Chr21:21q22.3		 likely benign
NM_002340.6(LSS):c.319+12C>A single nucleotide variant not provided [RCV003048751] Chr21:46227540 [GRCh38]
Chr21:47647454 [GRCh37]
Chr21:21q22.3		 likely benign
NM_002340.6(LSS):c.824C>T (p.Ala275Val) single nucleotide variant Inborn genetic diseases [RCV002719419] Chr21:46215753 [GRCh38]
Chr21:47635667 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_002340.6(LSS):c.1194+4C>T single nucleotide variant not provided [RCV002675699] Chr21:46210684 [GRCh38]
Chr21:47630598 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_002340.6(LSS):c.279C>T (p.His93=) single nucleotide variant not provided [RCV002943481] Chr21:46227592 [GRCh38]
Chr21:47647506 [GRCh37]
Chr21:21q22.3		 likely benign
NM_002340.6(LSS):c.908A>T (p.Tyr303Phe) single nucleotide variant Inborn genetic diseases [RCV002657153] Chr21:46215283 [GRCh38]
Chr21:47635197 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_002340.6(LSS):c.304del (p.Leu102fs) deletion not provided [RCV002721652] Chr21:46227567 [GRCh38]
Chr21:47647481 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_002340.6(LSS):c.386G>A (p.Arg129Gln) single nucleotide variant Inborn genetic diseases [RCV002679516] Chr21:46222672 [GRCh38]
Chr21:47642586 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_002340.6(LSS):c.1637A>G (p.Lys546Arg) single nucleotide variant Inborn genetic diseases [RCV002724979] Chr21:46205869 [GRCh38]
Chr21:47625783 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_002340.6(LSS):c.551-7_551-6delinsGC indel not provided [RCV003092760] Chr21:46219578..46219579 [GRCh38]
Chr21:47639492..47639493 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_002340.6(LSS):c.950A>G (p.Gln317Arg) single nucleotide variant Inborn genetic diseases [RCV002944468] Chr21:46215241 [GRCh38]
Chr21:47635155 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_002340.6(LSS):c.494del (p.Gly165fs) deletion Inborn genetic diseases [RCV002678846] Chr21:46221910 [GRCh38]
Chr21:47641824 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_002340.6(LSS):c.2141G>T (p.Trp714Leu) single nucleotide variant Inborn genetic diseases [RCV002722995] Chr21:46191162 [GRCh38]
Chr21:47611076 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_002340.6(LSS):c.1195-11G>C single nucleotide variant not provided [RCV002586070] Chr21:46209636 [GRCh38]
Chr21:47629550 [GRCh37]
Chr21:21q22.3		 likely benign
NM_002340.6(LSS):c.149G>T (p.Gly50Val) single nucleotide variant Inborn genetic diseases [RCV003195672] Chr21:46228465 [GRCh38]
Chr21:47648379 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_002340.6(LSS):c.31G>C (p.Gly11Arg) single nucleotide variant Inborn genetic diseases [RCV003261909] Chr21:46228583 [GRCh38]
Chr21:47648497 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_002340.6(LSS):c.217G>A (p.Ala73Thr) single nucleotide variant Inborn genetic diseases [RCV003342089]|not provided [RCV003777513] Chr21:46227654 [GRCh38]
Chr21:47647568 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_002340.6(LSS):c.1168G>A (p.Ala390Thr) single nucleotide variant Inborn genetic diseases [RCV003370221] Chr21:46210714 [GRCh38]
Chr21:47630628 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_002340.6(LSS):c.739C>T (p.Arg247Trp) single nucleotide variant Inborn genetic diseases [RCV003364896] Chr21:46216433 [GRCh38]
Chr21:47636347 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_002340.6(LSS):c.1415C>T (p.Pro472Leu) single nucleotide variant Inborn genetic diseases [RCV003369998] Chr21:46207480 [GRCh38]
Chr21:47627394 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_002340.6(LSS):c.55G>A (p.Ala19Thr) single nucleotide variant Inborn genetic diseases [RCV003383051] Chr21:46228559 [GRCh38]
Chr21:47648473 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_002340.6(LSS):c.181-15del deletion not provided [RCV003875072] Chr21:46227705 [GRCh38]
Chr21:47647619 [GRCh37]
Chr21:21q22.3		 benign
NM_002340.6(LSS):c.1012-7C>T single nucleotide variant not provided [RCV003875523] Chr21:46213842 [GRCh38]
Chr21:47633756 [GRCh37]
Chr21:21q22.3		 likely benign
GRCh37/hg19 21q22.2-22.3(chr21:40681179-48097372)x1 copy number loss not provided [RCV003483381] Chr21:40681179..48097372 [GRCh37]
Chr21:21q22.2-22.3		 pathogenic
GRCh37/hg19 21q22.11-22.3(chr21:33015681-48097372)x3 copy number gain not provided [RCV003485222] Chr21:33015681..48097372 [GRCh37]
Chr21:21q22.11-22.3		 pathogenic
GRCh37/hg19 21q22.3(chr21:43687354-48097372)x3 copy number gain not provided [RCV003485225] Chr21:43687354..48097372 [GRCh37]
Chr21:21q22.3		 likely pathogenic
NM_002340.6(LSS):c.1671-29A>G single nucleotide variant not provided [RCV003431598] Chr21:46196296 [GRCh38]
Chr21:47616210 [GRCh37]
Chr21:21q22.3		 likely benign
NM_002340.6(LSS):c.351C>T (p.Ile117=) single nucleotide variant not provided [RCV003440616] Chr21:46222707 [GRCh38]
Chr21:47642621 [GRCh37]
Chr21:21q22.3		 likely benign
NM_002340.6(LSS):c.1522G>C (p.Gly508Arg) single nucleotide variant Alopecia-intellectual disability syndrome 4 [RCV003388929] Chr21:46206714 [GRCh38]
Chr21:47626628 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_002340.6(LSS):c.1016C>T (p.Ser339Leu) single nucleotide variant Alopecia-intellectual disability syndrome 4 [RCV003388930] Chr21:46213831 [GRCh38]
Chr21:47633745 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_002340.6(LSS):c.36C>G (p.Gly12=) single nucleotide variant not provided [RCV003431599] Chr21:46228578 [GRCh38]
Chr21:47648492 [GRCh37]
Chr21:21q22.3		 likely benign
NM_002340.6(LSS):c.1455T>C (p.Asp485=) single nucleotide variant not provided [RCV003440612] Chr21:46207440 [GRCh38]
Chr21:47627354 [GRCh37]
Chr21:21q22.3		 likely benign
NM_002340.6(LSS):c.1356C>T (p.Ile452=) single nucleotide variant not provided [RCV003440613] Chr21:46207539 [GRCh38]
Chr21:47627453 [GRCh37]
Chr21:21q22.3		 likely benign
NM_002340.6(LSS):c.1053C>T (p.Asp351=) single nucleotide variant not provided [RCV003440614] Chr21:46213794 [GRCh38]
Chr21:47633708 [GRCh37]
Chr21:21q22.3		 likely benign
NM_002340.6(LSS):c.978C>T (p.Asp326=) single nucleotide variant not provided [RCV003440615] Chr21:46215213 [GRCh38]
Chr21:47635127 [GRCh37]
Chr21:21q22.3		 likely benign
NM_002340.6(LSS):c.647+12G>C single nucleotide variant not provided [RCV003827259] Chr21:46219464 [GRCh38]
Chr21:47639378 [GRCh37]
Chr21:21q22.3		 likely benign
NM_002340.6(LSS):c.74G>T (p.Trp25Leu) single nucleotide variant not provided [RCV003694714] Chr21:46228540 [GRCh38]
Chr21:47648454 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_002340.6(LSS):c.641A>C (p.Glu214Ala) single nucleotide variant not provided [RCV003548220] Chr21:46219482 [GRCh38]
Chr21:47639396 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_002340.6(LSS):c.2067+7C>T single nucleotide variant not provided [RCV003548246] Chr21:46191874 [GRCh38]
Chr21:47611788 [GRCh37]
Chr21:21q22.3		 benign
NM_002340.6(LSS):c.138C>T (p.Arg46=) single nucleotide variant not provided [RCV003835260] Chr21:46228476 [GRCh38]
Chr21:47648390 [GRCh37]
Chr21:21q22.3		 likely benign
NM_002340.6(LSS):c.15-11G>T single nucleotide variant not provided [RCV003814754] Chr21:46228610 [GRCh38]
Chr21:47648524 [GRCh37]
Chr21:21q22.3		 likely benign
NM_002340.6(LSS):c.2022C>T (p.Val674=) single nucleotide variant not provided [RCV003725621] Chr21:46191926 [GRCh38]
Chr21:47611840 [GRCh37]
Chr21:21q22.3		 likely benign
NM_002340.6(LSS):c.504T>C (p.Pro168=) single nucleotide variant not provided [RCV003666731] Chr21:46221900 [GRCh38]
Chr21:47641814 [GRCh37]
Chr21:21q22.3		 likely benign
NM_002340.6(LSS):c.1810C>T (p.Arg604Ter) single nucleotide variant not provided [RCV003838066] Chr21:46195683 [GRCh38]
Chr21:47615597 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_002340.6(LSS):c.927C>G (p.Ala309=) single nucleotide variant LSS-related disorder [RCV004540702]|not provided [RCV003554311] Chr21:46215264 [GRCh38]
Chr21:47635178 [GRCh37]
Chr21:21q22.3		 benign|likely benign
NM_002340.6(LSS):c.1988+17C>T single nucleotide variant not provided [RCV003823048] Chr21:46194474 [GRCh38]
Chr21:47614388 [GRCh37]
Chr21:21q22.3		 likely benign
NM_002340.6(LSS):c.893-14C>G single nucleotide variant not provided [RCV003857409] Chr21:46215312 [GRCh38]
Chr21:47635226 [GRCh37]
Chr21:21q22.3		 likely benign
NM_002340.6(LSS):c.1428G>A (p.Glu476=) single nucleotide variant not provided [RCV003679803] Chr21:46207467 [GRCh38]
Chr21:47627381 [GRCh37]
Chr21:21q22.3		 likely benign
NM_002340.6(LSS):c.380T>C (p.Ile127Thr) single nucleotide variant not provided [RCV003709707] Chr21:46222678 [GRCh38]
Chr21:47642592 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_002340.6(LSS):c.1153C>A (p.Gln385Lys) single nucleotide variant not provided [RCV003542531] Chr21:46210729 [GRCh38]
Chr21:47630643 [GRCh37]
Chr21:21q22.3		 uncertain significance
GRCh37/hg19 21q22.11-22.3(chr21:34092685-48097372)x3 copy number gain not specified [RCV003986158] Chr21:34092685..48097372 [GRCh37]
Chr21:21q22.11-22.3		 pathogenic
GRCh37/hg19 21q22.3(chr21:44577746-48097372)x1 copy number loss not specified [RCV003986159] Chr21:44577746..48097372 [GRCh37]
Chr21:21q22.3		 pathogenic
GRCh37/hg19 21q21.3-22.3(chr21:26929299-48097372)x3 copy number gain not specified [RCV003986152] Chr21:26929299..48097372 [GRCh37]
Chr21:21q21.3-22.3		 pathogenic
GRCh37/hg19 21q22.12-22.3(chr21:35872675-48097372)x1 copy number loss not specified [RCV003986157] Chr21:35872675..48097372 [GRCh37]
Chr21:21q22.12-22.3		 pathogenic
GRCh37/hg19 21q21.3-22.3(chr21:30685776-48097372)x3 copy number gain not specified [RCV003986149] Chr21:30685776..48097372 [GRCh37]
Chr21:21q21.3-22.3		 pathogenic
NM_002340.6(LSS):c.1012-13G>A single nucleotide variant not provided [RCV003823406] Chr21:46213848 [GRCh38]
Chr21:47633762 [GRCh37]
Chr21:21q22.3		 likely benign
NM_002340.6(LSS):c.303A>G (p.Pro101=) single nucleotide variant not provided [RCV003854195] Chr21:46227568 [GRCh38]
Chr21:47647482 [GRCh37]
Chr21:21q22.3		 likely benign
GRCh37/hg19 21q22.3(chr21:43369956-48097372)x1 copy number loss not specified [RCV003986155] Chr21:43369956..48097372 [GRCh37]
Chr21:21q22.3		 pathogenic
GRCh37/hg19 21q22.3(chr21:45102309-48097372)x1 copy number loss not specified [RCV003986156] Chr21:45102309..48097372 [GRCh37]
Chr21:21q22.3		 pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15023401-48097372)x3 copy number gain not specified [RCV003986160] Chr21:15023401..48097372 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
GRCh37/hg19 21q22.3(chr21:43603041-48097372)x1 copy number loss not specified [RCV003986150] Chr21:43603041..48097372 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_002340.6(LSS):c.1990C>T (p.His664Tyr) single nucleotide variant not provided [RCV003542217] Chr21:46191958 [GRCh38]
Chr21:47611872 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_002340.6(LSS):c.732C>T (p.Tyr244=) single nucleotide variant not provided [RCV003556843] Chr21:46216440 [GRCh38]
Chr21:47636354 [GRCh37]
Chr21:21q22.3		 benign
NM_002340.6(LSS):c.284C>T (p.Thr95Met) single nucleotide variant not provided [RCV003712098] Chr21:46227587 [GRCh38]
Chr21:47647501 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_002340.6(LSS):c.2148C>T (p.Leu716=) single nucleotide variant not provided [RCV003729446] Chr21:46191155 [GRCh38]
Chr21:47611069 [GRCh37]
Chr21:21q22.3		 likely benign
NM_002340.6(LSS):c.626A>T (p.Asn209Ile) single nucleotide variant not provided [RCV003704275] Chr21:46219497 [GRCh38]
Chr21:47639411 [GRCh37]
Chr21:21q22.3		 likely pathogenic
NM_002340.6(LSS):c.3G>C (p.Met1Ile) single nucleotide variant not provided [RCV003704276] Chr21:46228743 [GRCh38]
Chr21:47648657 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_002340.6(LSS):c.1109+15G>A single nucleotide variant not provided [RCV003853882] Chr21:46213723 [GRCh38]
Chr21:47633637 [GRCh37]
Chr21:21q22.3		 likely benign
NM_002340.6(LSS):c.1988+9G>A single nucleotide variant LSS-related disorder [RCV004536901] Chr21:46194482 [GRCh38]
Chr21:47614396 [GRCh37]
Chr21:21q22.3		 likely benign
NM_002340.6(LSS):c.-10T>A single nucleotide variant LSS-related disorder [RCV004540774] Chr21:46228755 [GRCh38]
Chr21:47648669 [GRCh37]
Chr21:21q22.3		 likely benign
GRCh37/hg19 21q22.3(chr21:45726806-48093361)x1 copy number loss not provided [RCV004442739] Chr21:45726806..48093361 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_002340.6(LSS):c.789C>G (p.Leu263=) single nucleotide variant not provided [RCV003992982] Chr21:46215788 [GRCh38]
Chr21:47635702 [GRCh37]
Chr21:21q22.3		 benign
NM_002340.6(LSS):c.1983C>T (p.Ala661=) single nucleotide variant LSS-related disorder [RCV004534474] Chr21:46194496 [GRCh38]
Chr21:47614410 [GRCh37]
Chr21:21q22.3		 likely benign
NM_002340.6(LSS):c.1758C>T (p.Thr586=) single nucleotide variant not provided [RCV003886897] Chr21:46195735 [GRCh38]
Chr21:47615649 [GRCh37]
Chr21:21q22.3		 likely benign
NM_002340.6(LSS):c.1740C>T (p.Ser580=) single nucleotide variant LSS-related disorder [RCV004539465] Chr21:46195753 [GRCh38]
Chr21:47615667 [GRCh37]
Chr21:21q22.3		 likely benign
NM_002340.6(LSS):c.1683G>T (p.Thr561=) single nucleotide variant not provided [RCV003887571] Chr21:46196255 [GRCh38]
Chr21:47616169 [GRCh37]
Chr21:21q22.3		 likely benign
NM_002340.6(LSS):c.1317+1G>T single nucleotide variant Cataract 44 [RCV003990806] Chr21:46208250 [GRCh38]
Chr21:47628164 [GRCh37]
Chr21:21q22.3		 likely pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15380398-48100790)x3 copy number gain not provided [RCV004577449] Chr21:15380398..48100790 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
NM_002340.6(LSS):c.645G>A (p.Met215Ile) single nucleotide variant not provided [RCV004588679] Chr21:46219478 [GRCh38]
Chr21:47639392 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_002340.6(LSS):c.1111A>T (p.Met371Leu) single nucleotide variant Inborn genetic diseases [RCV004408212] Chr21:46213051 [GRCh38]
Chr21:47632965 [GRCh37]
Chr21:21q22.3		 likely benign
NM_002340.6(LSS):c.1565-2del deletion Inborn genetic diseases [RCV004408214] Chr21:46205943 [GRCh38]
Chr21:47625857 [GRCh37]
Chr21:21q22.3		 likely pathogenic
NM_002340.6(LSS):c.1609G>A (p.Val537Met) single nucleotide variant Inborn genetic diseases [RCV004408215] Chr21:46205897 [GRCh38]
Chr21:47625811 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_002340.6(LSS):c.1700G>T (p.Cys567Phe) single nucleotide variant Inborn genetic diseases [RCV004408216] Chr21:46196238 [GRCh38]
Chr21:47616152 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_002340.6(LSS):c.1793G>A (p.Cys598Tyr) single nucleotide variant Inborn genetic diseases [RCV004408217] Chr21:46195700 [GRCh38]
Chr21:47615614 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_002340.6(LSS):c.2066A>C (p.Gln689Pro) single nucleotide variant Inborn genetic diseases [RCV004408218] Chr21:46191882 [GRCh38]
Chr21:47611796 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_002340.6(LSS):c.2171C>G (p.Pro724Arg) single nucleotide variant Inborn genetic diseases [RCV004408219] Chr21:46191132 [GRCh38]
Chr21:47611046 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_002340.6(LSS):c.340G>A (p.Val114Met) single nucleotide variant Inborn genetic diseases [RCV004408220] Chr21:46222718 [GRCh38]
Chr21:47642632 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_002340.6(LSS):c.686T>A (p.Leu229His) single nucleotide variant Inborn genetic diseases [RCV004408221] Chr21:46216486 [GRCh38]
Chr21:47636400 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_002340.6(LSS):c.751G>A (p.Ala251Thr) single nucleotide variant Inborn genetic diseases [RCV004408222] Chr21:46216421 [GRCh38]
Chr21:47636335 [GRCh37]
Chr21:21q22.3		 likely benign
NM_002340.6(LSS):c.847G>A (p.Asp283Asn) single nucleotide variant Inborn genetic diseases [RCV004408223] Chr21:46215730 [GRCh38]
Chr21:47635644 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_002340.6(LSS):c.253G>A (p.Val85Met) single nucleotide variant Inborn genetic diseases [RCV004640177] Chr21:46227618 [GRCh38]
Chr21:47647532 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_002340.6(LSS):c.37C>T (p.Pro13Ser) single nucleotide variant not provided [RCV004697406] Chr21:46228577 [GRCh38]
Chr21:47648491 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_002340.6(LSS):c.1543C>G (p.Leu515Val) single nucleotide variant Inborn genetic diseases [RCV004640178] Chr21:46206693 [GRCh38]
Chr21:47626607 [GRCh37]
Chr21:21q22.3		 uncertain significance
NC_000021.8:g.(?_45647421)_(47865240_?)dup duplication not provided [RCV004579369] Chr21:45647421..47865240 [GRCh37]
Chr21:21q22.3		 uncertain significance
NC_000021.8:g.(?_44296792)_(47865240_?)del deletion not provided [RCV004579375] Chr21:44296792..47865240 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_002340.6(LSS):c.1153C>G (p.Gln385Glu) single nucleotide variant Alopecia-intellectual disability syndrome 4 [RCV004585148] Chr21:46210729 [GRCh38]
Chr21:47630643 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_002340.6(LSS):c.1063T>A (p.Ser355Thr) single nucleotide variant Inborn genetic diseases [RCV004640176] Chr21:46213784 [GRCh38]
Chr21:47633698 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_002340.6(LSS):c.1083T>G (p.His361Gln) single nucleotide variant Inborn genetic diseases [RCV004640179] Chr21:46213764 [GRCh38]
Chr21:47633678 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_002340.6(LSS):c.2117G>C (p.Ser706Thr) single nucleotide variant Inborn genetic diseases [RCV004636295] Chr21:46191186 [GRCh38]
Chr21:47611100 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_002340.6(LSS):c.700C>G (p.Arg234Gly) single nucleotide variant not provided [RCV004762583]   uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:4574
Count of miRNA genes:1122
Interacting mature miRNAs:1400
Transcripts:ENST00000356396, ENST00000397728, ENST00000419093, ENST00000450351, ENST00000457828, ENST00000464357, ENST00000472272, ENST00000474319, ENST00000484808, ENST00000491729, ENST00000522411
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

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

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


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
407133152GWAS782128_Hmastiha supplement exposure measurement, blood glutathione peroxidase measurement QTL GWAS782128 (human)9e-09mastiha supplement exposure measurement, blood glutathione peroxidase measurementblood glutathione peroxidase activity level (CMO:0002441)214621128546211286Human

Markers in Region
RH78361  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372147,608,432 - 47,608,559UniSTSGRCh37
Build 362146,432,860 - 46,432,987RGDNCBI36
Celera2132,720,820 - 32,720,947RGD
Cytogenetic Map21q22.3UniSTS
HuRef2132,990,285 - 32,990,412UniSTS
GeneMap99-GB4 RH Map21254.42UniSTS
NCBI RH Map21407.7UniSTS
SHGC-87729  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372147,609,148 - 47,609,330UniSTSGRCh37
Build 362146,433,576 - 46,433,758RGDNCBI36
Celera2132,721,536 - 32,721,718RGD
Cytogenetic Map21q22.3UniSTS
HuRef2132,991,001 - 32,991,183UniSTS
TNG Radiation Hybrid Map2119899.0UniSTS
GeneMap99-GB4 RH Map21256.8UniSTS
NCBI RH Map21407.7UniSTS
SHGC-58604  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372147,618,512 - 47,618,655UniSTSGRCh37
Build 362146,442,940 - 46,443,083RGDNCBI36
Celera2132,730,899 - 32,731,042RGD
Cytogenetic Map21q22.3UniSTS
HuRef2133,000,364 - 33,000,507UniSTS
SHGC-144587  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372147,647,049 - 47,647,393UniSTSGRCh37
Build 362146,471,477 - 46,471,821RGDNCBI36
Celera2132,759,451 - 32,759,795RGD
Cytogenetic Map21q22.3UniSTS
HuRef2133,029,337 - 33,029,681UniSTS
TNG Radiation Hybrid Map2119930.0UniSTS
STS_CEB254  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372147,640,569 - 47,641,224UniSTSGRCh37
Build 362146,464,997 - 46,465,652RGDNCBI36
Celera2132,752,969 - 32,753,624RGD
Cytogenetic Map21q22.3UniSTS
HuRef2133,022,855 - 33,023,510UniSTS
SHGC-87723  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372147,608,481 - 47,608,681UniSTSGRCh37
Build 362146,432,909 - 46,433,109RGDNCBI36
Celera2132,720,869 - 32,721,069RGD
Cytogenetic Map21q22.3UniSTS
HuRef2132,990,334 - 32,990,534UniSTS
TNG Radiation Hybrid Map2119899.0UniSTS
GeneMap99-GB4 RH Map21253.7UniSTS
Whitehead-RH Map21247.0UniSTS
NCBI RH Map21407.7UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2439 2788 2253 4974 1726 2351 6 624 1951 465 2270 7306 6472 53 3734 1 852 1744 1617 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_011510 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001001438 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001145436 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001145437 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_002340 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA922470 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ239021 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ239022 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ239023 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ239024 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ239025 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ239026 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ239027 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ239028 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ239029 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ239030 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ239031 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK092334 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK096769 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK098352 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK128839 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK226141 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK296313 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK312489 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP001468 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP001469 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP001759 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY927524 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC035638 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM662957 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU728696 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX443698 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471079 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068257 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D63807 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA333499 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GN121355 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GQ891438 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HB965870 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HB966073 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HD023280 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HD023483 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S81221 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X87809 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000356396   ⟹   ENSP00000348762
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2146,188,141 - 46,228,822 (-)Ensembl
Ensembl Acc Id: ENST00000397728   ⟹   ENSP00000380837
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2146,188,446 - 46,228,774 (-)Ensembl
Ensembl Acc Id: ENST00000419093   ⟹   ENSP00000410678
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2146,188,474 - 46,194,580 (-)Ensembl
Ensembl Acc Id: ENST00000450351   ⟹   ENSP00000391368
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2146,216,389 - 46,228,768 (-)Ensembl
Ensembl Acc Id: ENST00000457828   ⟹   ENSP00000409191
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2146,189,124 - 46,228,824 (-)Ensembl
Ensembl Acc Id: ENST00000464357
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2146,215,685 - 46,228,762 (-)Ensembl
Ensembl Acc Id: ENST00000472272
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2146,227,319 - 46,228,774 (-)Ensembl
Ensembl Acc Id: ENST00000474319
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2146,189,125 - 46,193,370 (-)Ensembl
Ensembl Acc Id: ENST00000484808
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2146,195,676 - 46,196,371 (-)Ensembl
Ensembl Acc Id: ENST00000491729
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2146,188,446 - 46,193,487 (-)Ensembl
Ensembl Acc Id: ENST00000522411   ⟹   ENSP00000429133
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2146,190,783 - 46,228,781 (-)Ensembl
RefSeq Acc Id: NM_001001438   ⟹   NP_001001438
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382146,188,446 - 46,228,774 (-)NCBI
GRCh372147,608,360 - 47,648,738 (-)ENTREZGENE
Build 362146,432,788 - 46,473,119 (-)NCBI Archive
HuRef2132,990,213 - 33,031,026 (-)ENTREZGENE
CHM1_12147,167,889 - 47,208,226 (-)NCBI
T2T-CHM13v2.02144,570,708 - 44,611,332 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001145436   ⟹   NP_001138908
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382146,188,446 - 46,228,774 (-)NCBI
GRCh372147,608,360 - 47,648,738 (-)ENTREZGENE
HuRef2132,990,213 - 33,031,026 (-)ENTREZGENE
CHM1_12147,168,567 - 47,208,226 (-)NCBI
T2T-CHM13v2.02144,570,708 - 44,611,332 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001145437   ⟹   NP_001138909
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382146,188,446 - 46,228,774 (-)NCBI
GRCh372147,608,360 - 47,648,738 (-)ENTREZGENE
HuRef2132,990,213 - 33,031,026 (-)ENTREZGENE
CHM1_12147,168,567 - 47,208,226 (-)NCBI
T2T-CHM13v2.02144,570,708 - 44,611,332 (-)NCBI
Sequence:
RefSeq Acc Id: NM_002340   ⟹   NP_002331
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382146,188,446 - 46,228,774 (-)NCBI
GRCh372147,608,360 - 47,648,738 (-)ENTREZGENE
Build 362146,433,467 - 46,473,119 (-)NCBI Archive
HuRef2132,990,213 - 33,031,026 (-)ENTREZGENE
CHM1_12147,168,567 - 47,208,226 (-)NCBI
T2T-CHM13v2.02144,570,708 - 44,611,332 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001001438 (Get FASTA)   NCBI Sequence Viewer  
  NP_001138908 (Get FASTA)   NCBI Sequence Viewer  
  NP_001138909 (Get FASTA)   NCBI Sequence Viewer  
  NP_002331 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAB36220 (Get FASTA)   NCBI Sequence Viewer  
  AAH35638 (Get FASTA)   NCBI Sequence Viewer  
  ADO22300 (Get FASTA)   NCBI Sequence Viewer  
  BAA09875 (Get FASTA)   NCBI Sequence Viewer  
  BAC03865 (Get FASTA)   NCBI Sequence Viewer  
  BAC04859 (Get FASTA)   NCBI Sequence Viewer  
  BAC05289 (Get FASTA)   NCBI Sequence Viewer  
  BAC87638 (Get FASTA)   NCBI Sequence Viewer  
  BAG35391 (Get FASTA)   NCBI Sequence Viewer  
  BAG59011 (Get FASTA)   NCBI Sequence Viewer  
  CAA61078 (Get FASTA)   NCBI Sequence Viewer  
  CAB42828 (Get FASTA)   NCBI Sequence Viewer  
  CAY34695 (Get FASTA)   NCBI Sequence Viewer  
  CBG17604 (Get FASTA)   NCBI Sequence Viewer  
  CBG17696 (Get FASTA)   NCBI Sequence Viewer  
  CBV30957 (Get FASTA)   NCBI Sequence Viewer  
  CBV31050 (Get FASTA)   NCBI Sequence Viewer  
  EAX09299 (Get FASTA)   NCBI Sequence Viewer  
  EAX09300 (Get FASTA)   NCBI Sequence Viewer  
  EAX09301 (Get FASTA)   NCBI Sequence Viewer  
  EAX09302 (Get FASTA)   NCBI Sequence Viewer  
  EAX09303 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000348762
  ENSP00000348762.3
  ENSP00000380837
  ENSP00000380837.2
  ENSP00000391368.1
  ENSP00000409191
  ENSP00000409191.2
  ENSP00000410678.1
  ENSP00000429133
  ENSP00000429133.1
  ENSP00000485757.1
  ENSP00000486113.1
  ENSP00000487109.1
  ENSP00000487196.1
  ENSP00000487418.1
GenBank Protein P48449 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_001001438   ⟸   NM_001001438
- Peptide Label: isoform 1
- UniProtKB: Q8IYL6 (UniProtKB/Swiss-Prot),   G5E9Q9 (UniProtKB/Swiss-Prot),   E9PEI9 (UniProtKB/Swiss-Prot),   D3DSN0 (UniProtKB/Swiss-Prot),   B4DJZ9 (UniProtKB/Swiss-Prot),   Q9UEZ1 (UniProtKB/Swiss-Prot),   P48449 (UniProtKB/Swiss-Prot),   A0A384MTQ5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001138908   ⟸   NM_001145436
- Peptide Label: isoform 2
- UniProtKB: A0A384MTQ5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_002331   ⟸   NM_002340
- Peptide Label: isoform 1
- UniProtKB: Q8IYL6 (UniProtKB/Swiss-Prot),   G5E9Q9 (UniProtKB/Swiss-Prot),   E9PEI9 (UniProtKB/Swiss-Prot),   D3DSN0 (UniProtKB/Swiss-Prot),   B4DJZ9 (UniProtKB/Swiss-Prot),   Q9UEZ1 (UniProtKB/Swiss-Prot),   P48449 (UniProtKB/Swiss-Prot),   A0A384MTQ5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001138909   ⟸   NM_001145437
- Peptide Label: isoform 3
- UniProtKB: A0A384MTQ5 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000391368   ⟸   ENST00000450351
Ensembl Acc Id: ENSP00000409191   ⟸   ENST00000457828
Ensembl Acc Id: ENSP00000429133   ⟸   ENST00000522411
Ensembl Acc Id: ENSP00000410678   ⟸   ENST00000419093
Ensembl Acc Id: ENSP00000348762   ⟸   ENST00000356396
Ensembl Acc Id: ENSP00000380837   ⟸   ENST00000397728
Protein Domains
Squalene cyclase C-terminal   Squalene cyclase N-terminal

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P48449-F1-model_v2 AlphaFold P48449 1-732 view protein structure

Promoters
RGD ID:13603086
Promoter ID:EPDNEW_H27727
Type:initiation region
Name:LSS_1
Description:lanosterol synthase
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
GRCh382146,228,764 - 46,228,824EPDNEW
RGD ID:6799479
Promoter ID:HG_KWN:41293
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   K562,   Lymphoblastoid
Transcripts:OTTHUMT00000207275,   OTTHUMT00000207276
Position:
Human AssemblyChrPosition (strand)Source
Build 362146,436,356 - 46,438,577 (-)MPROMDB
RGD ID:6799483
Promoter ID:HG_KWN:41294
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:OTTHUMT00000207280
Position:
Human AssemblyChrPosition (strand)Source
Build 362146,438,806 - 46,439,306 (-)MPROMDB
RGD ID:6799497
Promoter ID:HG_KWN:41297
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_001145436,   NM_001145437,   NM_002340,   OTTHUMT00000207273,   OTTHUMT00000207277,   OTTHUMT00000207278,   OTTHUMT00000207279,   OTTHUMT00000207294,   OTTHUMT00000207295,   OTTHUMT00000207296,   OTTHUMT00000207297,   OTTHUMT00000207298,   OTTHUMT00000207299
Position:
Human AssemblyChrPosition (strand)Source
Build 362146,472,101 - 46,474,602 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:6708 AgrOrtholog
COSMIC LSS COSMIC
Ensembl Genes ENSG00000160285 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENSG00000281289 UniProtKB/TrEMBL
Ensembl Transcript ENST00000356396 ENTREZGENE
  ENST00000356396.8 UniProtKB/Swiss-Prot
  ENST00000397728 ENTREZGENE
  ENST00000397728.8 UniProtKB/Swiss-Prot
  ENST00000419093.5 UniProtKB/TrEMBL
  ENST00000450351.1 UniProtKB/TrEMBL
  ENST00000457828 ENTREZGENE
  ENST00000457828.6 UniProtKB/Swiss-Prot
  ENST00000522411 ENTREZGENE
  ENST00000522411.5 UniProtKB/Swiss-Prot
  ENST00000625576.2 UniProtKB/TrEMBL
  ENST00000625922.1 UniProtKB/TrEMBL
  ENST00000627118.2 UniProtKB/TrEMBL
  ENST00000630343.2 UniProtKB/TrEMBL
  ENST00000630761.2 UniProtKB/TrEMBL
Gene3D-CATH 1.50.10.20 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  6.20.120.20 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000160285 GTEx
  ENSG00000281289 GTEx
HGNC ID HGNC:6708 ENTREZGENE
Human Proteome Map LSS Human Proteome Map
InterPro SQ_cyclase_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SQ_cyclase_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Squalene_cyclase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Terpene_synthase_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Terpenoid_cyclase/PrenylTrfase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:4047 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 4047 ENTREZGENE
OMIM 600909 OMIM
PANTHER LANOSTEROL SYNTHASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR11764 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam SQHop_cyclase_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SQHop_cyclase_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA30473 PharmGKB
PROSITE TERPENE_SYNTHASES UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF48239 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A0G2JQD0_HUMAN UniProtKB/TrEMBL
  A0A0G2JS81_HUMAN UniProtKB/TrEMBL
  A0A384MTQ5 ENTREZGENE, UniProtKB/TrEMBL
  B2R694_HUMAN UniProtKB/TrEMBL
  B4DJZ9 ENTREZGENE
  C9J315_HUMAN UniProtKB/TrEMBL
  D3DSN0 ENTREZGENE
  E9PEI9 ENTREZGENE
  ERG7_HUMAN UniProtKB/Swiss-Prot
  G5E9Q9 ENTREZGENE
  H7C3A5_HUMAN UniProtKB/TrEMBL
  P48449 ENTREZGENE
  Q8IYL6 ENTREZGENE
  Q9UEZ1 ENTREZGENE
UniProt Secondary B4DJZ9 UniProtKB/Swiss-Prot
  D3DSN0 UniProtKB/Swiss-Prot
  E9PEI9 UniProtKB/Swiss-Prot
  G5E9Q9 UniProtKB/Swiss-Prot
  Q8IYL6 UniProtKB/Swiss-Prot
  Q9UEZ1 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2017-01-17 LSS  lanosterol synthase  LSS  lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase)  Symbol and/or name change 5135510 APPROVED