SLC19A1 (solute carrier family 19 member 1) - Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Gene: SLC19A1 (solute carrier family 19 member 1) Homo sapiens
Analyze
Symbol: SLC19A1
Name: solute carrier family 19 member 1
RGD ID: 737399
HGNC Page HGNC:10937
Description: Enables 2',3'-cyclic GMP-AMP binding activity and organic anion transmembrane transporter activity. Involved in cyclic-GMP-AMP transmembrane import across plasma membrane; folate import across plasma membrane; and methotrexate transport. Located in apical plasma membrane and basolateral plasma membrane. Part of plasma membrane. Implicated in cleft lip; dextro-looped transposition of the great arteries; hematologic cancer; and malaria.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: CHMD; cyclic dinucleotide:anion antiporter SLC19A1; folate transporter 1; folate:anion antiporter SLC19A1; FOLT; hRFC; hSLC19A1; IFC-1; IFC1; intestinal folate carrier 1; MEGAF; placental folate transporter; reduced folate carrier 1; reduced folate carrier protein; reduced folate transporter; reduced folate transporter 1; REFC; RFC; RFC1; RFT-1; solute carrier family 19 (folate transporter), member 1; solute carrier family 19, member 1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
NCBI Annotation Information: Note: RFC1 (GeneID: 5981) and SLC19A1 (GeneID: 6573) share the RFC1 symbol/alias in common. RFC1 is the official symbol for the gene name 'replication factor C subunit 1' and is an alias for 'reduced folate carrier 1' on the 'solute carrier family 19 member 1' gene. [18 May 2018]
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382145,502,517 - 45,563,025 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl2145,493,572 - 45,573,365 (-)EnsemblGRCh38hg38GRCh38
GRCh372146,932,461 - 46,982,939 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362145,759,057 - 45,786,779 (-)NCBINCBI36Build 36hg18NCBI36
Build 342145,759,056 - 45,786,779NCBI
Celera2132,045,498 - 32,073,224 (-)NCBICelera
Cytogenetic Map21q22.3NCBI
HuRef2132,311,090 - 32,338,803 (-)NCBIHuRef
CHM1_12146,495,459 - 46,523,222 (-)NCBICHM1_1
T2T-CHM13v2.02143,880,658 - 43,932,046 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(S)-nicotine  (EXP)
1,2-dichloroethane  (ISO)
1,2-dimethylhydrazine  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP)
2,2',4,4'-Tetrabromodiphenyl ether  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4-dinitrotoluene  (ISO)
4,4'-diisothiocyano-trans-stilbene-2,2'-disulfonic acid  (EXP)
4-Acetamido-4'-isothiocyanostilbene-2,2'-disulphonic acid  (EXP)
4-amino-2,6-dinitrotoluene  (ISO)
5,6,7,8-tetrahydrofolic acid  (ISO)
5-aza-2'-deoxycytidine  (EXP)
5-formyltetrahydrofolic acid  (EXP)
5-methyltetrahydrofolic acid  (EXP,ISO)
acrylamide  (EXP)
aflatoxin B1  (EXP)
alendronic acid  (ISO)
all-trans-retinoic acid  (EXP)
ammonium chloride  (ISO)
antirheumatic drug  (EXP)
aristolochic acid A  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
atenolol  (EXP)
atrazine  (EXP)
benzo[a]pyrene  (EXP)
bisphenol A  (EXP,ISO)
bromosulfophthalein  (ISO)
bumetanide  (ISO)
caffeine  (EXP)
calciol  (ISO)
carbamazepine  (EXP,ISO)
carbon nanotube  (ISO)
chlorpromazine  (ISO)
cholate  (ISO)
choline  (ISO)
ciguatoxin CTX1B  (ISO)
cisplatin  (EXP)
clofibrate  (ISO)
clotrimazole  (ISO)
cobalt dichloride  (EXP)
copper atom  (EXP)
copper(0)  (EXP)
copper(II) sulfate  (EXP)
coumarin  (EXP)
cyclosporin A  (ISO)
diazinon  (EXP)
dibenzo[a,l]pyrene  (ISO)
diclofenac  (EXP)
dihydrofolic acid  (ISO)
dioxygen  (EXP,ISO)
doxorubicin  (EXP)
elemental selenium  (EXP)
epoxiconazole  (ISO)
ethanol  (EXP,ISO)
ethyl methanesulfonate  (EXP)
fipronil  (ISO)
flavonoids  (ISO)
folic acid  (EXP,ISO)
formaldehyde  (EXP)
furan  (ISO)
genistein  (EXP)
gentamycin  (ISO)
hydrogen peroxide  (EXP)
ICI D1694  (EXP)
indometacin  (EXP)
irinotecan  (EXP)
L-methionine  (ISO)
Lasiocarpine  (EXP)
lipopolysaccharide  (ISO)
methotrexate  (EXP,ISO)
methyl methanesulfonate  (EXP)
methylseleninic acid  (EXP)
monocrotaline  (EXP)
nicotine  (EXP)
okadaic acid  (ISO)
paracetamol  (EXP,ISO)
pemetrexed  (EXP)
phenobarbital  (ISO)
phorbol 13-acetate 12-myristate  (ISO)
potassium chromate  (EXP)
pregnenolone 16alpha-carbonitrile  (ISO)
raloxifene  (ISO)
resveratrol  (EXP)
S-adenosyl-L-homocysteine  (ISO)
S-adenosyl-L-methioninate  (ISO)
S-adenosyl-L-methionine  (ISO)
selenium atom  (EXP)
taurocholic acid  (ISO)
trichloroethene  (ISO)
trichostatin A  (EXP)
trimellitic anhydride  (ISO)
trimetrexate  (ISO)
troglitazone  (ISO)
urethane  (EXP)
valproic acid  (EXP)
vitamin E  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
apical plasma membrane  (IBA,IDA,IEA,ISS)
basolateral plasma membrane  (IBA,IDA,IEA,ISO,ISS)
brush border membrane  (IEA,ISO)
membrane  (IEA)
plasma membrane  (IBA,IDA,IEA,ISO,TAS)

Molecular Pathway Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. Overview of homocysteine and folate metabolism. With special references to cardiovascular disease and neural tube defects. Blom HJ and Smulders Y, J Inherit Metab Dis. 2011 Feb;34(1):75-81. doi: 10.1007/s10545-010-9177-4. Epub 2010 Sep 4.
2. Effect of chronic kidney disease on the expression of thiamin and folic acid transporters. Bukhari FJ, etal., Nephrol Dial Transplant. 2011 Jul;26(7):2137-44. doi: 10.1093/ndt/gfq675. Epub 2010 Dec 13.
3. The role of MTHFR and RFC1 polymorphisms on toxicity and outcome of adult patients with hematological malignancies treated with high-dose methotrexate followed by leucovorin rescue. Chiusolo P, etal., Cancer Chemother Pharmacol. 2012 Mar;69(3):691-6. doi: 10.1007/s00280-011-1751-4. Epub 2011 Oct 9.
4. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
5. Methylenetetrahydrofolate reductase C677T and reduced folate carrier 80 G>A polymorphisms are associated with an increased risk of conotruncal heart defects. Gong D, etal., Clin Chem Lab Med. 2012 Feb 4;50(8):1455-61. doi: 10.1515/cclm-2011-0759.
6. Possible selection of host folate pathway gene polymorphisms in patients with malaria from a malaria endemic region in North East India. Mirgal D, etal., Trans R Soc Trop Med Hyg. 2016 May;110(5):294-8. doi: 10.1093/trstmh/trw026.
7. Expression of the reduced folate carrier SLC19A1 in IEC-6 cells results in two distinct transport activities. Rajgopal A, etal., Am J Physiol Cell Physiol 2001 Nov;281(5):C1579-86.
8. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
9. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
10. Reduced folate carrier 1 (RFC1) is associated with cleft of the lip only. Vieira AR, etal., Braz J Med Biol Res. 2008 Aug;41(8):689-93.
11. Update and new concepts in vitamin responsive disorders of folate transport and metabolism. Watkins D and Rosenblatt DS, J Inherit Metab Dis. 2012 Jul;35(4):665-70. doi: 10.1007/s10545-011-9418-1. Epub 2011 Nov 23.
Additional References at PubMed
PMID:7615551   PMID:7641195   PMID:7763259   PMID:7826387   PMID:7852378   PMID:8276792   PMID:9041240   PMID:9570943   PMID:9602167   PMID:9804996   PMID:10347183   PMID:10787414  
PMID:10830953   PMID:11705857   PMID:11857541   PMID:12087110   PMID:12139489   PMID:12144527   PMID:12175915   PMID:12227830   PMID:12228234   PMID:12411325   PMID:12454742   PMID:12477932  
PMID:12519783   PMID:12576457   PMID:12673279   PMID:12707400   PMID:12749765   PMID:12753319   PMID:12855225   PMID:14551190   PMID:14561664   PMID:14584080   PMID:14602046   PMID:14609557  
PMID:14632302   PMID:15044114   PMID:15059614   PMID:15060097   PMID:15068242   PMID:15198953   PMID:15214842   PMID:15231126   PMID:15297414   PMID:15337749   PMID:15457444   PMID:15469899  
PMID:15564880   PMID:15652157   PMID:15677700   PMID:15769366   PMID:15797993   PMID:15799025   PMID:15922487   PMID:15937947   PMID:15952116   PMID:15964598   PMID:16019224   PMID:16086047  
PMID:16115349   PMID:16115875   PMID:16122883   PMID:16141796   PMID:16225938   PMID:16284371   PMID:16343969   PMID:16365025   PMID:16471213   PMID:16522921   PMID:16596679   PMID:16712703  
PMID:16750224   PMID:16845273   PMID:16875718   PMID:16917939   PMID:16923800   PMID:16962770   PMID:17035141   PMID:17113562   PMID:17180579   PMID:17181924   PMID:17208363   PMID:17264302  
PMID:17306382   PMID:17311259   PMID:17311260   PMID:17323057   PMID:17325736   PMID:17334909   PMID:17404734   PMID:17410198   PMID:17436311   PMID:17439323   PMID:17449906   PMID:17702010  
PMID:17891500   PMID:17983788   PMID:18022874   PMID:18023275   PMID:18028428   PMID:18053808   PMID:18060320   PMID:18182479   PMID:18204969   PMID:18258338   PMID:18273817   PMID:18322994  
PMID:18406541   PMID:18414976   PMID:18427977   PMID:18447718   PMID:18458567   PMID:18499665   PMID:18528741   PMID:18607581   PMID:18629538   PMID:18635682   PMID:18650265   PMID:18676680  
PMID:18776693   PMID:18799873   PMID:18823966   PMID:18830263   PMID:18842806   PMID:18988749   PMID:19019492   PMID:19019821   PMID:19020309   PMID:19048631   PMID:19093297   PMID:19105199  
PMID:19159907   PMID:19161160   PMID:19170196   PMID:19172696   PMID:19274320   PMID:19307503   PMID:19324355   PMID:19336370   PMID:19336437   PMID:19340000   PMID:19461557   PMID:19493349  
PMID:19533788   PMID:19548564   PMID:19571232   PMID:19625176   PMID:19650776   PMID:19651439   PMID:19692168   PMID:19706844   PMID:19729796   PMID:19776634   PMID:19827168   PMID:19841321  
PMID:19858780   PMID:19913121   PMID:20018840   PMID:20036773   PMID:20037791   PMID:20056620   PMID:20141435   PMID:20233025   PMID:20235210   PMID:20237949   PMID:20310006   PMID:20335220  
PMID:20371868   PMID:20424473   PMID:20458436   PMID:20466634   PMID:20468076   PMID:20472929   PMID:20494980   PMID:20511665   PMID:20544798   PMID:20557288   PMID:20628086   PMID:20634891  
PMID:20647221   PMID:20651609   PMID:20661649   PMID:20683905   PMID:20718043   PMID:20737570   PMID:20824655   PMID:20852008   PMID:20890936   PMID:20948192   PMID:21045269   PMID:21113649  
PMID:21274745   PMID:21507721   PMID:21681722   PMID:21760912   PMID:21811990   PMID:21873635   PMID:21878957   PMID:22344739   PMID:22475273   PMID:22554803   PMID:22729036   PMID:22890010  
PMID:22914600   PMID:22975209   PMID:23137377   PMID:23144806   PMID:23148635   PMID:23336575   PMID:23385809   PMID:23430030   PMID:23656756   PMID:23669721   PMID:23838799   PMID:23857226  
PMID:23986219   PMID:24100087   PMID:24237708   PMID:24333266   PMID:24350725   PMID:24367687   PMID:24396145   PMID:24554143   PMID:24749799   PMID:24782176   PMID:24917213   PMID:24927955  
PMID:24942095   PMID:24995314   PMID:25074866   PMID:25078587   PMID:25124723   PMID:25536437   PMID:25599563   PMID:25659099   PMID:25697897   PMID:25730024   PMID:25771854   PMID:25778468  
PMID:25860940   PMID:26186194   PMID:26193446   PMID:26439863   PMID:26638075   PMID:26959650   PMID:27213354   PMID:27233001   PMID:27427275   PMID:27783031   PMID:27936032   PMID:28112518  
PMID:28514442   PMID:28536923   PMID:28611215   PMID:28885847   PMID:28948692   PMID:28994615   PMID:29121255   PMID:29345051   PMID:29568061   PMID:29986308   PMID:30022368   PMID:30194290  
PMID:30280653   PMID:30388610   PMID:30579244   PMID:30639242   PMID:31073040   PMID:31091453   PMID:31126740   PMID:31499477   PMID:31511694   PMID:31544789   PMID:31786878   PMID:31791063  
PMID:31871319   PMID:31903637   PMID:31926453   PMID:32276275   PMID:32296183   PMID:32403197   PMID:32498429   PMID:33180421   PMID:33326752   PMID:33737637   PMID:33913025   PMID:33933170  
PMID:33935279   PMID:33957083   PMID:33961781   PMID:34079125   PMID:34709727   PMID:35271311   PMID:35844135   PMID:35952336   PMID:35958555   PMID:36071163   PMID:36265513  


Genomics

Comparative Map Data
SLC19A1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382145,502,517 - 45,563,025 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl2145,493,572 - 45,573,365 (-)EnsemblGRCh38hg38GRCh38
GRCh372146,932,461 - 46,982,939 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362145,759,057 - 45,786,779 (-)NCBINCBI36Build 36hg18NCBI36
Build 342145,759,056 - 45,786,779NCBI
Celera2132,045,498 - 32,073,224 (-)NCBICelera
Cytogenetic Map21q22.3NCBI
HuRef2132,311,090 - 32,338,803 (-)NCBIHuRef
CHM1_12146,495,459 - 46,523,222 (-)NCBICHM1_1
T2T-CHM13v2.02143,880,658 - 43,932,046 (-)NCBIT2T-CHM13v2.0
Slc19a1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391076,868,103 - 76,886,266 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1076,868,075 - 76,896,836 (+)EnsemblGRCm39 Ensembl
GRCm381077,032,269 - 77,050,432 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1077,032,241 - 77,061,002 (+)EnsemblGRCm38mm10GRCm38
MGSCv371076,496,004 - 76,513,171 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361076,476,975 - 76,494,142 (+)NCBIMGSCv36mm8
Celera1078,077,259 - 78,094,426 (+)NCBICelera
Cytogenetic Map10C1NCBI
cM Map1039.72NCBI
Slc19a1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.22011,584,410 - 11,602,429 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl2011,584,411 - 11,601,972 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx2012,280,810 - 12,298,413 (-)NCBIRnor_SHR
UTH_Rnor_SHRSP_BbbUtx_1.02011,641,794 - 11,659,406 (-)NCBIRnor_SHRSP
UTH_Rnor_WKY_Bbb_1.02012,113,554 - 12,131,164 (-)NCBIRnor_WKY
Rnor_6.02012,334,675 - 12,354,517 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl2012,334,676 - 12,352,377 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.02014,497,058 - 14,515,221 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.42011,984,283 - 12,001,865 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.12011,984,510 - 12,001,518 (-)NCBI
Celera2013,083,139 - 13,100,721 (-)NCBICelera
Cytogenetic Map20p12NCBI
Slc19a1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495540742,132,165 - 42,141,992 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495540742,132,216 - 42,154,252 (-)NCBIChiLan1.0ChiLan1.0
SLC19A1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.12145,108,537 - 45,155,049 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2145,090,595 - 45,134,752 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v02131,836,774 - 31,883,829 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
SLC19A1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13138,958,332 - 38,971,091 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl3138,967,013 - 38,971,094 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3138,186,973 - 38,207,074 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.03138,595,425 - 38,615,689 (-)NCBIROS_Cfam_1.0
UMICH_Zoey_3.13138,459,144 - 38,479,394 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.03138,418,853 - 38,439,175 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.03138,937,728 - 38,958,024 (-)NCBIUU_Cfam_GSD_1.0
Slc19a1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440497138,283,370 - 38,301,406 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936778829,550 - 848,833 (+)EnsemblSpeTri2.0
SpeTri2.0NW_004936778823,376 - 846,843 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SLC19A1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl13207,986,098 - 208,007,675 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.113207,986,094 - 208,007,855 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.213218,089,574 - 218,114,847 (-)NCBISscrofa10.2Sscrofa10.2susScr3
SLC19A1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1289,188,171 - 89,232,081 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl289,188,733 - 89,209,281 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605417,449,163 - 17,496,448 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Slc19a1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462474530,794,024 - 30,811,944 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462474530,793,114 - 30,811,944 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in SLC19A1
626 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001379500.1(COL18A1):c.3837G>A (p.Ser1279=) single nucleotide variant not provided [RCV001488392]|not specified [RCV000516681] Chr21:45512215 [GRCh38]
Chr21:46932129 [GRCh37]
Chr21:21q22.3
likely benign
NM_001379500.1(COL18A1):c.3036G>A (p.Pro1012=) single nucleotide variant Glaucoma, primary closed-angle [RCV002496992]|not provided [RCV002060233]|not specified [RCV000517493] Chr21:45505380 [GRCh38]
Chr21:46925294 [GRCh37]
Chr21:21q22.3
benign|likely benign
NM_001379500.1(COL18A1):c.3406G>A (p.Gly1136Arg) single nucleotide variant not provided [RCV001516584]|not specified [RCV000516334] Chr21:45509512 [GRCh38]
Chr21:46929426 [GRCh37]
Chr21:21q22.3
benign|uncertain significance
NM_001379500.1(COL18A1):c.3665G>A (p.Arg1222His) single nucleotide variant not provided [RCV001522502]|not specified [RCV000518504] Chr21:45510233 [GRCh38]
Chr21:46930147 [GRCh37]
Chr21:21q22.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_001379500.1(COL18A1):c.2782G>A (p.Gly928Arg) single nucleotide variant Knobloch syndrome [RCV001139523]|not provided [RCV001514518]|not specified [RCV000517971] Chr21:45504470 [GRCh38]
Chr21:46924384 [GRCh37]
Chr21:21q22.3
benign
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 21q22.3(chr21:45084236-45991858)x3 copy number gain See cases [RCV000052831] Chr21:45084236..45991858 [GRCh38]
Chr21:46504151..47411772 [GRCh37]
Chr21:45328579..46236200 [NCBI36]
Chr21:21q22.3
uncertain significance
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 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
NM_001379500.1(COL18A1):c.3959_3960insTGCC (p.Cys1321fs) insertion Knobloch syndrome [RCV000662297] Chr21:45512337..45512338 [GRCh38]
Chr21:46932251..46932252 [GRCh37]
Chr21:21q22.3
pathogenic
NM_001379500.1(COL18A1):c.3539G>A (p.Arg1180Gln) single nucleotide variant Knobloch syndrome [RCV001333463]|not provided [RCV001452439] Chr21:45510107 [GRCh38]
Chr21:46930021 [GRCh37]
Chr21:21q22.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001379500.1(COL18A1):c.2743C>T (p.Arg915Ter) single nucleotide variant not provided [RCV000171509] Chr21:45504431 [GRCh38]
Chr21:46924345 [GRCh37]
Chr21:21q22.3
pathogenic|likely pathogenic
NM_001379500.1(COL18A1):c.3763C>T (p.Arg1255Cys) single nucleotide variant not provided [RCV001494319] Chr21:45511180 [GRCh38]
Chr21:46931094 [GRCh37]
Chr21:21q22.3
likely benign
NM_001379500.1(COL18A1):c.2823dup (p.Gly942fs) duplication Knobloch syndrome [RCV000018654]|not provided [RCV001588817] Chr21:45504504..45504505 [GRCh38]
Chr21:46924418..46924419 [GRCh37]
Chr21:21q22.3
pathogenic
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
NM_194255.4(SLC19A1):c.80A>G (p.His27Arg) single nucleotide variant Gastrointestinal stromal tumor [RCV000144916]|methotrexate response - Efficacy [RCV001788041]|not provided [RCV002055868] Chr21:45537880 [GRCh38]
Chr21:46957794 [GRCh37]
Chr21:21q22.3
benign|drug response|uncertain significance
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
NM_001379500.1(COL18A1):c.2702TTC[1] (p.Leu902del) microsatellite Glaucoma, primary closed-angle [RCV002496986]|not provided [RCV000514569]|not specified [RCV001821446] Chr21:45504029..45504031 [GRCh38]
Chr21:46923943..46923945 [GRCh37]
Chr21:21q22.3
benign|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 21q22.2-22.3(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_001379500.1(COL18A1):c.3778G>A (p.Asp1260Asn) single nucleotide variant Knobloch syndrome [RCV000018655]|not provided [RCV000711309]|not specified [RCV000248578] Chr21:45511195 [GRCh38]
Chr21:46931109 [GRCh37]
Chr21:21q22.3
pathogenic|benign|likely benign|conflicting interpretations of pathogenicity
NM_001379500.1(COL18A1):c.3523_3524del (p.Leu1175fs) deletion Glaucoma, primary closed-angle [RCV001198207]|Glaucoma, primary closed-angle [RCV002504954]|Knobloch syndrome [RCV000055632]|Macular dystrophy [RCV000504900]|Retinal dystrophy [RCV001074487]|Retinitis pigmentosa [RCV000505165]|not provided [RCV000479282] Chr21:45510091..45510092 [GRCh38]
Chr21:46930005..46930006 [GRCh37]
Chr21:21q22.3
pathogenic|likely pathogenic
GRCh37/hg19 21q22.3(chr21:44828064-48097372)x1 copy number loss See cases [RCV000449026] Chr21:44828064..48097372 [GRCh37]
Chr21:21q22.3
pathogenic
NM_001379500.1(COL18A1):c.2964CCCCCCAGG[1] (p.985GPP[3]) microsatellite Knobloch syndrome [RCV000714628]|not provided [RCV001442641] Chr21:45505227..45505235 [GRCh38]
Chr21:46925141..46925149 [GRCh37]
Chr21:21q22.3
likely benign|uncertain significance
Single allele deletion Axenfeld-Rieger syndrome type 3 [RCV000677943] Chr21:46363553..48080926 [GRCh37]
Chr21:21q22.3
pathogenic
chr21:45970718..47545826 complex variant complex Ductal breast carcinoma [RCV000207279] Chr21:45970718..47545826 [GRCh37]
Chr21:21q22.3
uncertain significance
Single allele duplication not provided [RCV000768458] Chr21:43010560..48093051 [GRCh37]
Chr21:21q22.3
likely pathogenic
NM_001379500.1(COL18A1):c.3673G>A (p.Val1225Met) single nucleotide variant not provided [RCV000224896]|not specified [RCV001818549] Chr21:45510241 [GRCh38]
Chr21:46930155 [GRCh37]
Chr21:21q22.3
benign|likely benign
NM_001379500.1(COL18A1):c.3250-13C>T single nucleotide variant not provided [RCV002166712] Chr21:45509343 [GRCh38]
Chr21:46929257 [GRCh37]
Chr21:21q22.3
likely benign
NM_001379500.1(COL18A1):c.2979A>C (p.Pro993=) single nucleotide variant not provided [RCV001513042]|not specified [RCV000516236] Chr21:45505244 [GRCh38]
Chr21:46925158 [GRCh37]
Chr21:21q22.3
benign|likely benign
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
NM_001379500.1(COL18A1):c.3810-20C>T single nucleotide variant not provided [RCV001512591]|not specified [RCV000253362] Chr21:45512168 [GRCh38]
Chr21:46932082 [GRCh37]
Chr21:21q22.3
benign
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
NM_001379500.1(COL18A1):c.3495+38C>G single nucleotide variant not provided [RCV001689920]|not specified [RCV000244405] Chr21:45509639 [GRCh38]
Chr21:46929553 [GRCh37]
Chr21:21q22.3
benign
GRCh37/hg19 21q22.3(chr21:46682125-48090317)x3 copy number gain See cases [RCV000240574] Chr21:46682125..48090317 [GRCh37]
Chr21:21q22.3
likely pathogenic
NM_001379500.1(COL18A1):c.2728-8G>A single nucleotide variant Knobloch syndrome [RCV000323806]|not provided [RCV001511990]|not specified [RCV000242235] Chr21:45504408 [GRCh38]
Chr21:46924322 [GRCh37]
Chr21:21q22.3
benign|likely benign
NM_001379500.1(COL18A1):c.3528A>G (p.Ser1176=) single nucleotide variant not provided [RCV001513715]|not specified [RCV000249582] Chr21:45510096 [GRCh38]
Chr21:46930010 [GRCh37]
Chr21:21q22.3
benign
NM_001379500.1(COL18A1):c.*16G>A single nucleotide variant Glaucoma, primary closed-angle [RCV001589276]|Knobloch syndrome [RCV000368050]|not provided [RCV001651254]|not specified [RCV000249700] Chr21:45512414 [GRCh38]
Chr21:46932328 [GRCh37]
Chr21:21q22.3
benign
NM_001379500.1(COL18A1):c.2781C>T (p.Pro927=) single nucleotide variant Knobloch syndrome [RCV000371942]|not provided [RCV001520483]|not specified [RCV000247426] Chr21:45504469 [GRCh38]
Chr21:46924383 [GRCh37]
Chr21:21q22.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_001379500.1(COL18A1):c.3087+9_3087+10del deletion not provided [RCV001511992]|not specified [RCV000252188] Chr21:45505439..45505440 [GRCh38]
Chr21:46925353..46925354 [GRCh37]
Chr21:21q22.3
benign|likely benign
NM_001379500.1(COL18A1):c.3694-33A>C single nucleotide variant not provided [RCV001683118]|not specified [RCV000245036] Chr21:45511078 [GRCh38]
Chr21:46930992 [GRCh37]
Chr21:21q22.3
benign|likely benign
NM_001379500.1(COL18A1):c.3250-15G>A single nucleotide variant not provided [RCV001513141]|not specified [RCV000247530] Chr21:45509341 [GRCh38]
Chr21:46929255 [GRCh37]
Chr21:21q22.3
benign
NM_001379500.1(COL18A1):c.3231A>G (p.Thr1077=) single nucleotide variant Knobloch syndrome [RCV000625366]|not provided [RCV000711308]|not specified [RCV000242753] Chr21:45507575 [GRCh38]
Chr21:46927489 [GRCh37]
Chr21:21q22.3
benign
NM_001379500.1(COL18A1):c.3447G>A (p.Ala1149=) single nucleotide variant Glaucoma, primary closed-angle [RCV001589285]|Knobloch syndrome [RCV000607757]|not provided [RCV001510213]|not specified [RCV000252618] Chr21:45509553 [GRCh38]
Chr21:46929467 [GRCh37]
Chr21:21q22.3
benign
NM_001379500.1(COL18A1):c.3579G>A (p.Ala1193=) single nucleotide variant not provided [RCV001857852]|not specified [RCV000252725] Chr21:45510147 [GRCh38]
Chr21:46930061 [GRCh37]
Chr21:21q22.3
likely benign
NM_001379500.1(COL18A1):c.3694-20AC[4] microsatellite not provided [RCV001538486]|not specified [RCV000248065] Chr21:45511090..45511091 [GRCh38]
Chr21:46931004..46931005 [GRCh37]
Chr21:21q22.3
benign
NM_001379500.1(COL18A1):c.2684-28C>T single nucleotide variant not specified [RCV000250480] Chr21:45503983 [GRCh38]
Chr21:46923897 [GRCh37]
Chr21:21q22.3
likely benign
NM_001379500.1(COL18A1):c.3610G>A (p.Ala1204Thr) single nucleotide variant not provided [RCV001510214]|not specified [RCV000243313] Chr21:45510178 [GRCh38]
Chr21:46930092 [GRCh37]
Chr21:21q22.3
benign|likely benign
NM_001379500.1(COL18A1):c.3694-32C>A single nucleotide variant not provided [RCV001636822]|not specified [RCV000253243] Chr21:45511079 [GRCh38]
Chr21:46930993 [GRCh37]
Chr21:21q22.3
benign|likely benign
NM_001379500.1(COL18A1):c.*484C>T single nucleotide variant Knobloch syndrome [RCV000299901] Chr21:45512882 [GRCh38]
Chr21:46932796 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.2823C>A (p.Pro941=) single nucleotide variant Knobloch syndrome [RCV000292412] Chr21:45504511 [GRCh38]
Chr21:46924425 [GRCh37]
Chr21:21q22.3
likely benign|uncertain significance
NM_001379500.1(COL18A1):c.*30G>A single nucleotide variant Knobloch syndrome [RCV000275794] Chr21:45512428 [GRCh38]
Chr21:46932342 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.*498G>A single nucleotide variant Knobloch syndrome [RCV000356957] Chr21:45512896 [GRCh38]
Chr21:46932810 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.2693C>T (p.Pro898Leu) single nucleotide variant Glaucoma, primary closed-angle [RCV002487503]|Knobloch syndrome [RCV000358757]|not provided [RCV001861180] Chr21:45504020 [GRCh38]
Chr21:46923934 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.*532T>C single nucleotide variant Knobloch syndrome [RCV000312877] Chr21:45512930 [GRCh38]
Chr21:46932844 [GRCh37]
Chr21:21q22.3
likely benign|uncertain significance
NM_001379500.1(COL18A1):c.*1088C>T single nucleotide variant Knobloch syndrome [RCV000323857] Chr21:45513486 [GRCh38]
Chr21:46933400 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.*851C>T single nucleotide variant Knobloch syndrome [RCV000272401] Chr21:45513249 [GRCh38]
Chr21:46933163 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.*1148_*1149insCA insertion Knobloch syndrome [RCV000279292] Chr21:45513546..45513547 [GRCh38]
Chr21:46933460..46933461 [GRCh37]
Chr21:21q22.3
benign
NM_001379500.1(COL18A1):c.2979_2980delinsC (p.Pro996fs) indel not provided [RCV000311760] Chr21:45505244..45505245 [GRCh38]
Chr21:46925158..46925159 [GRCh37]
Chr21:21q22.3
pathogenic
NM_001379500.1(COL18A1):c.*852G>C single nucleotide variant Knobloch syndrome [RCV000320423] Chr21:45513250 [GRCh38]
Chr21:46933164 [GRCh37]
Chr21:21q22.3
benign|likely benign
NM_001379500.1(COL18A1):c.*1129A>C single nucleotide variant Knobloch syndrome [RCV000371426] Chr21:45513527 [GRCh38]
Chr21:46933441 [GRCh37]
Chr21:21q22.3
benign|uncertain significance
NM_001379500.1(COL18A1):c.2815G>A (p.Gly939Ser) single nucleotide variant Knobloch syndrome [RCV000375403]|not provided [RCV001861181] Chr21:45504503 [GRCh38]
Chr21:46924417 [GRCh37]
Chr21:21q22.3
benign|likely benign|uncertain significance
NM_001379500.1(COL18A1):c.2849G>A (p.Arg950His) single nucleotide variant not provided [RCV000384279] Chr21:45504537 [GRCh38]
Chr21:46924451 [GRCh37]
Chr21:21q22.3
conflicting interpretations of pathogenicity|uncertain significance
NM_001379500.1(COL18A1):c.3787G>A (p.Asp1263Asn) single nucleotide variant Knobloch syndrome [RCV000262928] Chr21:45511204 [GRCh38]
Chr21:46931118 [GRCh37]
Chr21:21q22.3
likely benign
NM_001379500.1(COL18A1):c.*305C>T single nucleotide variant Knobloch syndrome [RCV000283895] Chr21:45512703 [GRCh38]
Chr21:46932617 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.*864C>A single nucleotide variant Knobloch syndrome [RCV000377357] Chr21:45513262 [GRCh38]
Chr21:46933176 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.*277T>C single nucleotide variant Knobloch syndrome [RCV000328294] Chr21:45512675 [GRCh38]
Chr21:46932589 [GRCh37]
Chr21:21q22.3
benign|likely benign
NM_001379500.1(COL18A1):c.*302C>A single nucleotide variant Knobloch syndrome [RCV000385255] Chr21:45512700 [GRCh38]
Chr21:46932614 [GRCh37]
Chr21:21q22.3
likely benign|uncertain significance
NM_001379500.1(COL18A1):c.*71G>A single nucleotide variant Knobloch syndrome [RCV000333113]|not provided [RCV001613119] Chr21:45512469 [GRCh38]
Chr21:46932383 [GRCh37]
Chr21:21q22.3
benign
NM_001379500.1(COL18A1):c.*134G>A single nucleotide variant Knobloch syndrome [RCV000289670] Chr21:45512532 [GRCh38]
Chr21:46932446 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.2899C>T (p.Pro967Ser) single nucleotide variant Knobloch syndrome [RCV000387981] Chr21:45505164 [GRCh38]
Chr21:46925078 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.*1222C>T single nucleotide variant Knobloch syndrome [RCV000292656] Chr21:45513620 [GRCh38]
Chr21:46933534 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.*584C>A single nucleotide variant Knobloch syndrome [RCV000277713] Chr21:45512982 [GRCh38]
Chr21:46932896 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.*340G>A single nucleotide variant Knobloch syndrome [RCV000407365] Chr21:45512738 [GRCh38]
Chr21:46932652 [GRCh37]
Chr21:21q22.3
benign
NM_001379500.1(COL18A1):c.3682G>A (p.Val1228Ile) single nucleotide variant Knobloch syndrome [RCV000260062]|not provided [RCV001861184] Chr21:45510250 [GRCh38]
Chr21:46930164 [GRCh37]
Chr21:21q22.3
likely benign|uncertain significance
NM_001379500.1(COL18A1):c.2956C>T (p.Pro986Ser) single nucleotide variant Knobloch syndrome [RCV000296080]|Seizure [RCV001263255] Chr21:45505221 [GRCh38]
Chr21:46925135 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.3547C>T (p.Arg1183Cys) single nucleotide variant Knobloch syndrome [RCV000339550]|not provided [RCV001865240]|not specified [RCV001821025] Chr21:45510115 [GRCh38]
Chr21:46930029 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.*306G>C single nucleotide variant Knobloch syndrome [RCV000340934] Chr21:45512704 [GRCh38]
Chr21:46932618 [GRCh37]
Chr21:21q22.3
benign|likely benign
NM_001379500.1(COL18A1):c.*1157C>G single nucleotide variant Knobloch syndrome [RCV000337088] Chr21:45513555 [GRCh38]
Chr21:46933469 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.2787C>T (p.Gly929=) single nucleotide variant Knobloch syndrome [RCV000260819]|not provided [RCV001520484] Chr21:45504475 [GRCh38]
Chr21:46924389 [GRCh37]
Chr21:21q22.3
benign|likely benign|uncertain significance
NM_001379500.1(COL18A1):c.3548G>A (p.Arg1183His) single nucleotide variant Knobloch syndrome [RCV000404759]|not provided [RCV001861183] Chr21:45510116 [GRCh38]
Chr21:46930030 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.2694G>A (p.Pro898=) single nucleotide variant Knobloch syndrome [RCV000266319]|not provided [RCV001514879] Chr21:45504021 [GRCh38]
Chr21:46923935 [GRCh37]
Chr21:21q22.3
benign|likely benign|uncertain significance
NM_001379500.1(COL18A1):c.2832A>C (p.Pro944=) single nucleotide variant Knobloch syndrome [RCV000349746]|not provided [RCV002057775] Chr21:45504529 [GRCh38]
Chr21:46924443 [GRCh37]
Chr21:21q22.3
likely benign
NM_001379500.1(COL18A1):c.*390G>A single nucleotide variant Knobloch syndrome [RCV000404960] Chr21:45512788 [GRCh38]
Chr21:46932702 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.2788G>A (p.Gly930Ser) single nucleotide variant Knobloch syndrome [RCV000318487]|not provided [RCV001865239] Chr21:45504476 [GRCh38]
Chr21:46924390 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.*849A>T single nucleotide variant Knobloch syndrome [RCV000364738] Chr21:45513247 [GRCh38]
Chr21:46933161 [GRCh37]
Chr21:21q22.3
likely benign|uncertain significance
NM_001379500.1(COL18A1):c.3620C>T (p.Ser1207Phe) single nucleotide variant not provided [RCV000489585] Chr21:45510188 [GRCh38]
Chr21:46930102 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.3847G>T (p.Gly1283Trp) single nucleotide variant not provided [RCV000489683] Chr21:45512225 [GRCh38]
Chr21:46932139 [GRCh37]
Chr21:21q22.3
likely pathogenic|conflicting interpretations of pathogenicity
NM_001379500.1(COL18A1):c.3832G>T (p.Gly1278Cys) single nucleotide variant Knobloch syndrome [RCV000329765] Chr21:45512210 [GRCh38]
Chr21:46932124 [GRCh37]
Chr21:21q22.3
likely benign
NM_001379500.1(COL18A1):c.3030C>T (p.Gly1010=) single nucleotide variant Knobloch syndrome [RCV000345438] Chr21:45505374 [GRCh38]
Chr21:46925288 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.3658G>A (p.Ala1220Thr) single nucleotide variant Knobloch syndrome [RCV000361790] Chr21:45510226 [GRCh38]
Chr21:46930140 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.*133T>C single nucleotide variant Knobloch syndrome [RCV000380734] Chr21:45512531 [GRCh38]
Chr21:46932445 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.2776G>A (p.Glu926Lys) single nucleotide variant not provided [RCV000520782] Chr21:45504464 [GRCh38]
Chr21:46924378 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.3558C>T (p.Asp1186=) single nucleotide variant Knobloch syndrome [RCV000304636] Chr21:45510126 [GRCh38]
Chr21:46930040 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.2684-9C>T single nucleotide variant not provided [RCV001445760]|not specified [RCV000517039] Chr21:45504002 [GRCh38]
Chr21:46923916 [GRCh37]
Chr21:21q22.3
likely benign|uncertain significance
NM_001379500.1(COL18A1):c.*369C>T single nucleotide variant Knobloch syndrome [RCV000335294] Chr21:45512767 [GRCh38]
Chr21:46932681 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.*505G>A single nucleotide variant Knobloch syndrome [RCV000405777] Chr21:45512903 [GRCh38]
Chr21:46932817 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.*866C>T single nucleotide variant Knobloch syndrome [RCV000285185] Chr21:45513264 [GRCh38]
Chr21:46933178 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.*550dup duplication Knobloch syndrome [RCV000369866] Chr21:45512944..45512945 [GRCh38]
Chr21:46932858..46932859 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.*1203A>G single nucleotide variant Knobloch syndrome [RCV000408194] Chr21:45513601 [GRCh38]
Chr21:46933515 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.*342C>G single nucleotide variant Knobloch syndrome [RCV000287329] Chr21:45512740 [GRCh38]
Chr21:46932654 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.3367G>A (p.Ala1123Thr) single nucleotide variant Knobloch syndrome [RCV000310319]|not provided [RCV001861182] Chr21:45509473 [GRCh38]
Chr21:46929387 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.3690C>T (p.Leu1230=) single nucleotide variant Knobloch syndrome [RCV000298918] Chr21:45510258 [GRCh38]
Chr21:46930172 [GRCh37]
Chr21:21q22.3
likely benign
NM_001379500.1(COL18A1):c.3765C>T (p.Arg1255=) single nucleotide variant Knobloch syndrome [RCV000356118] Chr21:45511182 [GRCh38]
Chr21:46931096 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.*638G>A single nucleotide variant Knobloch syndrome [RCV000325764] Chr21:45513036 [GRCh38]
Chr21:46932950 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.3240A>G (p.Pro1080=) single nucleotide variant Knobloch syndrome [RCV000393966] Chr21:45507584 [GRCh38]
Chr21:46927498 [GRCh37]
Chr21:21q22.3
likely benign
NM_001379500.1(COL18A1):c.2790C>T (p.Gly930=) single nucleotide variant Knobloch syndrome [RCV001139525]|not provided [RCV001512010]|not specified [RCV000517069] Chr21:45504478 [GRCh38]
Chr21:46924392 [GRCh37]
Chr21:21q22.3
benign|likely benign
NM_001379500.1(COL18A1):c.3510G>A (p.Ala1170=) single nucleotide variant not provided [RCV002060234]|not specified [RCV000517278] Chr21:45510078 [GRCh38]
Chr21:46929992 [GRCh37]
Chr21:21q22.3
likely benign
NM_001379500.1(COL18A1):c.3448C>T (p.Arg1150Ter) single nucleotide variant Cataract [RCV000415261]|not provided [RCV001865300] Chr21:45509554 [GRCh38]
Chr21:46929468 [GRCh37]
Chr21:21q22.3
pathogenic|likely pathogenic
NM_001379500.1(COL18A1):c.3028G>A (p.Gly1010Ser) single nucleotide variant Glaucoma, primary closed-angle [RCV001198208]|Progressive neurodegenerative disease [RCV000415411]|not provided [RCV001865298] Chr21:45505372 [GRCh38]
Chr21:46925286 [GRCh37]
Chr21:21q22.3
likely pathogenic|uncertain significance
NM_001379500.1(COL18A1):c.3413C>T (p.Pro1138Leu) single nucleotide variant not provided [RCV001850996]|not specified [RCV000412780] Chr21:45509519 [GRCh38]
Chr21:46929433 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.3039_3047del (p.1011PPG[3]) deletion not provided [RCV000722738] Chr21:45505381..45505389 [GRCh38]
Chr21:46925295..46925303 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.3605T>G (p.Phe1202Cys) single nucleotide variant not provided [RCV000519318] Chr21:45510173 [GRCh38]
Chr21:46930087 [GRCh37]
Chr21:21q22.3
uncertain significance
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(chr21:46682647-47080985)x3 copy number gain See cases [RCV000449483] Chr21:46682647..47080985 [GRCh37]
Chr21:21q22.3
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 21q22.3(chr21:45265857-47057233)x1 copy number loss See cases [RCV000447458] Chr21:45265857..47057233 [GRCh37]
Chr21:21q22.3
pathogenic
NM_001379500.1(COL18A1):c.3352G>A (p.Ala1118Thr) single nucleotide variant not provided [RCV000418275] Chr21:45509458 [GRCh38]
Chr21:46929372 [GRCh37]
Chr21:21q22.3
benign|likely benign
NM_030582.4(COL18A1):c.3364_3371del (p.Gly1122fs) deletion Retinal dystrophy [RCV000504712] Chr21:45504521..45504528 [GRCh38]
Chr21:46924435..46924442 [GRCh37]
Chr21:21q22.3
likely 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
NM_001379500.1(COL18A1):c.2961_2969dup (p.985GPP[5]) duplication not specified [RCV000455236] Chr21:45505223..45505224 [GRCh38]
Chr21:46925137..46925138 [GRCh37]
Chr21:21q22.3
benign
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 21q22.13-22.3(chr21:37914123-48097372)x1 copy number loss See cases [RCV000510798] Chr21:37914123..48097372 [GRCh37]
Chr21:21q22.13-22.3
pathogenic
NM_001379500.1(COL18A1):c.2782G>C (p.Gly928Arg) single nucleotide variant Knobloch syndrome [RCV001139524]|not provided [RCV001520920]|not specified [RCV000516207] Chr21:45504470 [GRCh38]
Chr21:46924384 [GRCh37]
Chr21:21q22.3
benign
NM_001379500.1(COL18A1):c.2941G>A (p.Glu981Lys) single nucleotide variant not provided [RCV000514170] Chr21:45505206 [GRCh38]
Chr21:46925120 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.2829CCCAGGCCC[1] (p.938PGP[3]) microsatellite Knobloch syndrome [RCV000600681]|not provided [RCV001573345]|not specified [RCV001579930] Chr21:45504512..45504520 [GRCh38]
Chr21:46924440..46924448 [GRCh37]
Chr21:21q22.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_001379500.1(COL18A1):c.3823G>T (p.Val1275Leu) single nucleotide variant not provided [RCV000515030] Chr21:45512201 [GRCh38]
Chr21:46932115 [GRCh37]
Chr21:21q22.3
benign|likely benign
NM_001379500.1(COL18A1):c.3681C>T (p.Ile1227=) single nucleotide variant Knobloch syndrome [RCV000625367]|not provided [RCV001521474] Chr21:45510249 [GRCh38]
Chr21:46930163 [GRCh37]
Chr21:21q22.3
benign
NM_001379500.1(COL18A1):c.3495+14del deletion Knobloch syndrome [RCV000614859]|not provided [RCV001513307]|not specified [RCV001579374] Chr21:45509609 [GRCh38]
Chr21:46929523 [GRCh37]
Chr21:21q22.3
benign
NM_001379500.1(COL18A1):c.2684-14TC[2] microsatellite not provided [RCV000514818] Chr21:45503997..45504000 [GRCh38]
Chr21:46923911..46923914 [GRCh37]
Chr21:21q22.3
benign|likely benign
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(chr21:43687353-48097372)x1 copy number loss not provided [RCV000684163] Chr21:43687353..48097372 [GRCh37]
Chr21:21q22.3
pathogenic
NM_001379500.1(COL18A1):c.3694-65del deletion not provided [RCV001665207] Chr21:45511046 [GRCh38]
Chr21:46930960 [GRCh37]
Chr21:21q22.3
benign
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(chr21:45821582-47383056)x1 copy number loss not provided [RCV000741633] Chr21:45821582..47383056 [GRCh37]
Chr21:21q22.3
pathogenic
GRCh37/hg19 21q22.3(chr21:46797389-46958299)x3 copy number gain not provided [RCV000741638] Chr21:46797389..46958299 [GRCh37]
Chr21:21q22.3
benign
GRCh37/hg19 21q22.3(chr21:46809884-46958299)x3 copy number gain not provided [RCV000741639] Chr21:46809884..46958299 [GRCh37]
Chr21:21q22.3
benign
GRCh37/hg19 21q22.3(chr21:46929467-46953292)x1 copy number loss not provided [RCV000741641] Chr21:46929467..46953292 [GRCh37]
Chr21:21q22.3
benign
GRCh37/hg19 21q22.3(chr21:46931684-46975848)x3 copy number gain not provided [RCV000741642] Chr21:46931684..46975848 [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_001379500.1(COL18A1):c.2869-71C>T single nucleotide variant not provided [RCV001665847] Chr21:45505063 [GRCh38]
Chr21:46924977 [GRCh37]
Chr21:21q22.3
benign
NM_001379500.1(COL18A1):c.3694-229A>G single nucleotide variant not provided [RCV001649130] Chr21:45510882 [GRCh38]
Chr21:46930796 [GRCh37]
Chr21:21q22.3
benign
NM_001379500.1(COL18A1):c.3088-167C>A single nucleotide variant not provided [RCV001535385] Chr21:45505671 [GRCh38]
Chr21:46925585 [GRCh37]
Chr21:21q22.3
benign
NM_001379500.1(COL18A1):c.2824_2837= (p.Gly942_Pro946=) variation Glaucoma, primary closed-angle [RCV001588005]|Knobloch syndrome [RCV001588004] Chr21:45504521..45504534 [GRCh38]
Chr21:46924435..46924448 [GRCh37]
Chr21:21q22.3
benign
NM_001379500.1(COL18A1):c.3809+2T>C single nucleotide variant Knobloch syndrome [RCV000761287]|not provided [RCV001869040] Chr21:45511228 [GRCh38]
Chr21:46931142 [GRCh37]
Chr21:21q22.3
pathogenic|uncertain significance
NM_001379500.1(COL18A1):c.2978_2987del (p.Pro993fs) deletion Knobloch syndrome [RCV000761494]|not provided [RCV001855942] Chr21:45505236..45505245 [GRCh38]
Chr21:46925150..46925159 [GRCh37]
Chr21:21q22.3
pathogenic
NM_001379500.1(COL18A1):c.3317G>A (p.Arg1106Gln) single nucleotide variant Knobloch syndrome [RCV001724767]|not provided [RCV002032667] Chr21:45509423 [GRCh38]
Chr21:46929337 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_194255.4(SLC19A1):c.1151+8C>A single nucleotide variant not provided [RCV000900350] Chr21:45530762 [GRCh38]
Chr21:46950676 [GRCh37]
Chr21:21q22.3
benign
NM_194255.4(SLC19A1):c.1707T>C (p.His569=) single nucleotide variant not provided [RCV000928046] Chr21:45515727 [GRCh38]
Chr21:46935641 [GRCh37]
Chr21:21q22.3
likely benign
NM_001379500.1(COL18A1):c.3241C>T (p.Arg1081Ter) single nucleotide variant Knobloch syndrome [RCV000825517]|not provided [RCV001869266] Chr21:45507585 [GRCh38]
Chr21:46927499 [GRCh37]
Chr21:21q22.3
pathogenic|likely pathogenic
NM_001379500.1(COL18A1):c.2846= variation not provided [RCV000948103] Chr21:45504534..45504535 [GRCh38]
Chr21:46924448..46924449 [GRCh37]
Chr21:21q22.3
benign
NM_001379500.1(COL18A1):c.2978_2979insCGGCCCCCC (p.985GPP[5]) insertion not provided [RCV000948104] Chr21:45505235..45505236 [GRCh38]
Chr21:46925149..46925150 [GRCh37]
Chr21:21q22.3
benign
NM_194255.4(SLC19A1):c.348G>C (p.Val116=) single nucleotide variant not provided [RCV000948105] Chr21:45531990 [GRCh38]
Chr21:46951904 [GRCh37]
Chr21:21q22.3
benign
NM_001379500.1(COL18A1):c.3022G>A (p.Val1008Ile) single nucleotide variant not provided [RCV000950294] Chr21:45505366 [GRCh38]
Chr21:46925280 [GRCh37]
Chr21:21q22.3
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(chr21:45125672-48097372)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
NM_001379500.1(COL18A1):c.3087+1G>T single nucleotide variant not provided [RCV001043373] Chr21:45505432 [GRCh38]
Chr21:46925346 [GRCh37]
Chr21:21q22.3
likely pathogenic
NM_001379500.1(COL18A1):c.2780_2781insT (p.Gly928fs) insertion Knobloch syndrome [RCV000779358] Chr21:45504468..45504469 [GRCh38]
Chr21:46924382..46924383 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_194255.4(SLC19A1):c.1200C>T (p.Phe400=) single nucleotide variant not provided [RCV000904074] Chr21:45525910 [GRCh38]
Chr21:46945824 [GRCh37]
Chr21:21q22.3
likely benign
NM_001379500.1(COL18A1):c.3429C>T (p.Tyr1143=) single nucleotide variant not provided [RCV000972561] Chr21:45509535 [GRCh38]
Chr21:46929449 [GRCh37]
Chr21:21q22.3
benign
NM_194255.4(SLC19A1):c.1564G>A (p.Asp522Asn) single nucleotide variant not provided [RCV000892424] Chr21:45515870 [GRCh38]
Chr21:46935784 [GRCh37]
Chr21:21q22.3
likely benign
NM_194255.4(SLC19A1):c.795G>A (p.Pro265=) single nucleotide variant not provided [RCV000939723] Chr21:45531543 [GRCh38]
Chr21:46951457 [GRCh37]
Chr21:21q22.3
likely benign
NM_194255.4(SLC19A1):c.1012C>T (p.Leu338Phe) single nucleotide variant not provided [RCV000898711] Chr21:45530909 [GRCh38]
Chr21:46950823 [GRCh37]
Chr21:21q22.3
benign
NM_194255.4(SLC19A1):c.246C>G (p.Pro82=) single nucleotide variant not provided [RCV000974665] Chr21:45532092 [GRCh38]
Chr21:46952006 [GRCh37]
Chr21:21q22.3
benign
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
GRCh37/hg19 21q22.3(chr21:44310057-47503155)x1 copy number loss not provided [RCV000847671] Chr21:44310057..47503155 [GRCh37]
Chr21:21q22.3
pathogenic
NM_001379500.1(COL18A1):c.2829_2846del (p.938PGP[2]) deletion Knobloch syndrome [RCV000990362]|not provided [RCV001511991] Chr21:45504512..45504529 [GRCh38]
Chr21:46924426..46924443 [GRCh37]
Chr21:21q22.3
benign|likely benign
NM_001379500.1(COL18A1):c.3522_3523del (p.Leu1175fs) deletion Knobloch syndrome [RCV000845112] Chr21:45510087..45510088 [GRCh38]
Chr21:46930001..46930002 [GRCh37]
Chr21:21q22.3
pathogenic
NM_001379500.1(COL18A1):c.3407G>A (p.Gly1136Glu) single nucleotide variant not provided [RCV000997840] Chr21:45509513 [GRCh38]
Chr21:46929427 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.3735C>T (p.Gly1245=) single nucleotide variant not provided [RCV000997841] Chr21:45511152 [GRCh38]
Chr21:46931066 [GRCh37]
Chr21:21q22.3
benign|likely benign
NM_001379500.1(COL18A1):c.3826_3827del (p.Trp1276fs) microsatellite Knobloch syndrome [RCV000985046] Chr21:45512201..45512202 [GRCh38]
Chr21:46932115..46932116 [GRCh37]
Chr21:21q22.3
likely pathogenic
NM_001379500.1(COL18A1):c.*291G>A single nucleotide variant Knobloch syndrome [RCV001137599] Chr21:45512689 [GRCh38]
Chr21:46932603 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.*1235T>C single nucleotide variant Knobloch syndrome [RCV001137714] Chr21:45513633 [GRCh38]
Chr21:46933547 [GRCh37]
Chr21:21q22.3
uncertain significance
GRCh37/hg19 21q22.3(chr21:46933276-47155361)x3 copy number gain not provided [RCV000847779] Chr21:46933276..47155361 [GRCh37]
Chr21:21q22.3
uncertain significance
GRCh37/hg19 21q22.3(chr21:46749759-47243074)x3 copy number gain not provided [RCV000845851] Chr21:46749759..47243074 [GRCh37]
Chr21:21q22.3
uncertain significance
GRCh37/hg19 21q22.3(chr21:45490774-48097372)x1 copy number loss not provided [RCV001007145] Chr21:45490774..48097372 [GRCh37]
Chr21:21q22.3
likely pathogenic
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_001379500.1(COL18A1):c.3833G>T (p.Gly1278Val) single nucleotide variant Glaucoma, primary closed-angle [RCV001198156] Chr21:45512211 [GRCh38]
Chr21:46932125 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.2728-121C>A single nucleotide variant not provided [RCV001686827] Chr21:45504295 [GRCh38]
Chr21:46924209 [GRCh37]
Chr21:21q22.3
benign
NM_001379500.1(COL18A1):c.3216+87C>T single nucleotide variant not provided [RCV001638733] Chr21:45506053 [GRCh38]
Chr21:46925967 [GRCh37]
Chr21:21q22.3
benign
NM_001379500.1(COL18A1):c.3694-114_3694-101del deletion not provided [RCV001685943] Chr21:45510996..45511009 [GRCh38]
Chr21:46930910..46930923 [GRCh37]
Chr21:21q22.3
benign
NM_001379500.1(COL18A1):c.3250-186G>A single nucleotide variant not provided [RCV001720609] Chr21:45509170 [GRCh38]
Chr21:46929084 [GRCh37]
Chr21:21q22.3
benign
NM_001379500.1(COL18A1):c.3495+230G>A single nucleotide variant not provided [RCV001720610] Chr21:45509831 [GRCh38]
Chr21:46929745 [GRCh37]
Chr21:21q22.3
benign
NM_001379500.1(COL18A1):c.3217-213G>A single nucleotide variant not provided [RCV001709006] Chr21:45507348 [GRCh38]
Chr21:46927262 [GRCh37]
Chr21:21q22.3
benign
NM_001379500.1(COL18A1):c.3694-159_3694-124del deletion not provided [RCV001654420] Chr21:45510952..45510987 [GRCh38]
Chr21:46930866..46930901 [GRCh37]
Chr21:21q22.3
benign
NM_001379500.1(COL18A1):c.3216+174T>C single nucleotide variant not provided [RCV001716440] Chr21:45506140 [GRCh38]
Chr21:46926054 [GRCh37]
Chr21:21q22.3
benign
NM_001379500.1(COL18A1):c.3694-99del deletion not provided [RCV001654708] Chr21:45511003 [GRCh38]
Chr21:46930917 [GRCh37]
Chr21:21q22.3
benign
NM_001379500.1(COL18A1):c.3495+155C>G single nucleotide variant not provided [RCV001657030] Chr21:45509756 [GRCh38]
Chr21:46929670 [GRCh37]
Chr21:21q22.3
benign
NM_194255.4(SLC19A1):c.784C>T (p.Leu262=) single nucleotide variant not provided [RCV000886150] Chr21:45531554 [GRCh38]
Chr21:46951468 [GRCh37]
Chr21:21q22.3
benign
NM_001379500.1(COL18A1):c.2869-213_2869-207dup duplication not provided [RCV001643774] Chr21:45504919..45504920 [GRCh38]
Chr21:46924833..46924834 [GRCh37]
Chr21:21q22.3
benign
NM_001379500.1(COL18A1):c.*918C>T single nucleotide variant Knobloch syndrome [RCV001142463] Chr21:45513316 [GRCh38]
Chr21:46933230 [GRCh37]
Chr21:21q22.3
benign
NM_194255.4(SLC19A1):c.660C>T (p.Cys220=) single nucleotide variant not provided [RCV000913335] Chr21:45531678 [GRCh38]
Chr21:46951592 [GRCh37]
Chr21:21q22.3
likely benign
NM_194255.4(SLC19A1):c.166G>C (p.Asp56His) single nucleotide variant not provided [RCV000889324] Chr21:45537794 [GRCh38]
Chr21:46957708 [GRCh37]
Chr21:21q22.3
benign
NM_194255.4(SLC19A1):c.1242C>A (p.Ile414=) single nucleotide variant not provided [RCV000958143] Chr21:45525868 [GRCh38]
Chr21:46945782 [GRCh37]
Chr21:21q22.3
benign
NM_001379500.1(COL18A1):c.2869-117G>A single nucleotide variant not provided [RCV001720585] Chr21:45505017 [GRCh38]
Chr21:46924931 [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_001379500.1(COL18A1):c.3495+50C>T single nucleotide variant not provided [RCV001720606] Chr21:45509651 [GRCh38]
Chr21:46929565 [GRCh37]
Chr21:21q22.3
benign
NM_001379500.1(COL18A1):c.3694-56_3694-55insG insertion not provided [RCV001621068] Chr21:45511055..45511056 [GRCh38]
Chr21:46930969..46930970 [GRCh37]
Chr21:21q22.3
benign
NM_001379500.1(COL18A1):c.3495+205G>C single nucleotide variant not provided [RCV001639618] Chr21:45509806 [GRCh38]
Chr21:46929720 [GRCh37]
Chr21:21q22.3
benign
NM_001379500.1(COL18A1):c.2684-51G>A single nucleotide variant not provided [RCV001660877] Chr21:45503960 [GRCh38]
Chr21:46923874 [GRCh37]
Chr21:21q22.3
benign
NM_194255.4(SLC19A1):c.-43C>T single nucleotide variant not provided [RCV001595378] Chr21:45538002 [GRCh38]
Chr21:46957916 [GRCh37]
Chr21:21q22.3
benign
NM_001379500.1(COL18A1):c.2890C>T (p.Arg964Trp) single nucleotide variant not provided [RCV001591966] Chr21:45505155 [GRCh38]
Chr21:46925069 [GRCh37]
Chr21:21q22.3
conflicting interpretations of pathogenicity|uncertain significance
NM_001379500.1(COL18A1):c.3216+213G>A single nucleotide variant not provided [RCV001620916] Chr21:45506179 [GRCh38]
Chr21:46926093 [GRCh37]
Chr21:21q22.3
benign
NM_001379500.1(COL18A1):c.3216+122C>G single nucleotide variant not provided [RCV001598473] Chr21:45506088 [GRCh38]
Chr21:46926002 [GRCh37]
Chr21:21q22.3
benign
NM_001379500.1(COL18A1):c.3694-101C>T single nucleotide variant not provided [RCV001677142] Chr21:45511010 [GRCh38]
Chr21:46930924 [GRCh37]
Chr21:21q22.3
benign
NM_001379500.1(COL18A1):c.*13T>A single nucleotide variant Knobloch syndrome [RCV001142340] Chr21:45512411 [GRCh38]
Chr21:46932325 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.*1062C>T single nucleotide variant Knobloch syndrome [RCV001142466] Chr21:45513460 [GRCh38]
Chr21:46933374 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.*1209C>T single nucleotide variant Knobloch syndrome [RCV001137713] Chr21:45513607 [GRCh38]
Chr21:46933521 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.*431G>A single nucleotide variant Knobloch syndrome [RCV001139824] Chr21:45512829 [GRCh38]
Chr21:46932743 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.*718A>G single nucleotide variant Knobloch syndrome [RCV001140599] Chr21:45513116 [GRCh38]
Chr21:46933030 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.*732C>T single nucleotide variant Knobloch syndrome [RCV001140600] Chr21:45513130 [GRCh38]
Chr21:46933044 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.*95A>C single nucleotide variant Knobloch syndrome [RCV001142341] Chr21:45512493 [GRCh38]
Chr21:46932407 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.*1107C>G single nucleotide variant Knobloch syndrome [RCV001142467] Chr21:45513505 [GRCh38]
Chr21:46933419 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.3694-77A>C single nucleotide variant not provided [RCV001710578] Chr21:45511034 [GRCh38]
Chr21:46930948 [GRCh37]
Chr21:21q22.3
benign
NM_001379500.1(COL18A1):c.3694-70_3694-62del deletion not provided [RCV001695273] Chr21:45511041..45511049 [GRCh38]
Chr21:46930955..46930963 [GRCh37]
Chr21:21q22.3
benign
NM_001379500.1(COL18A1):c.3694-84dup duplication not provided [RCV001708416] Chr21:45511023..45511024 [GRCh38]
Chr21:46930937..46930938 [GRCh37]
Chr21:21q22.3
benign
NM_001379500.1(COL18A1):c.3217-202G>A single nucleotide variant not provided [RCV001693571] Chr21:45507359 [GRCh38]
Chr21:46927273 [GRCh37]
Chr21:21q22.3
benign
NM_001379500.1(COL18A1):c.3217-96_3217-55del deletion not provided [RCV001681906] Chr21:45507457..45507498 [GRCh38]
Chr21:46927371..46927412 [GRCh37]
Chr21:21q22.3
benign
NM_001379500.1(COL18A1):c.3694-49_3694-47del deletion not provided [RCV001690514] Chr21:45511061..45511063 [GRCh38]
Chr21:46930975..46930977 [GRCh37]
Chr21:21q22.3
benign
NM_001379500.1(COL18A1):c.3694-230C>T single nucleotide variant not provided [RCV001671831] Chr21:45510881 [GRCh38]
Chr21:46930795 [GRCh37]
Chr21:21q22.3
benign
NM_001379500.1(COL18A1):c.3694-97C>G single nucleotide variant not provided [RCV001691720] Chr21:45511014 [GRCh38]
Chr21:46930928 [GRCh37]
Chr21:21q22.3
benign
NM_001379500.1(COL18A1):c.2728-12T>C single nucleotide variant Knobloch syndrome [RCV001137273] Chr21:45504404 [GRCh38]
Chr21:46924318 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.2781C>G (p.Pro927=) single nucleotide variant Knobloch syndrome [RCV001137274] Chr21:45504469 [GRCh38]
Chr21:46924383 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.*1000C>A single nucleotide variant Knobloch syndrome [RCV001142465] Chr21:45513398 [GRCh38]
Chr21:46933312 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.*12A>T single nucleotide variant Knobloch syndrome [RCV001142339] Chr21:45512410 [GRCh38]
Chr21:46932324 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.*126C>T single nucleotide variant Knobloch syndrome [RCV001142342] Chr21:45512524 [GRCh38]
Chr21:46932438 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.*954C>T single nucleotide variant Knobloch syndrome [RCV001142464] Chr21:45513352 [GRCh38]
Chr21:46933266 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.*6G>A single nucleotide variant Knobloch syndrome [RCV001140494] Chr21:45512404 [GRCh38]
Chr21:46932318 [GRCh37]
Chr21:21q22.3
benign
NM_001379500.1(COL18A1):c.*824G>A single nucleotide variant Knobloch syndrome [RCV001140601] Chr21:45513222 [GRCh38]
Chr21:46933136 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.3532_3533del (p.Gly1178fs) deletion Knobloch syndrome [RCV001253603]|not provided [RCV001780202] Chr21:45510100..45510101 [GRCh38]
Chr21:46930014..46930015 [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
NM_001379500.1(COL18A1):c.2917C>T (p.Gln973Ter) single nucleotide variant not provided [RCV001311577] Chr21:45505182 [GRCh38]
Chr21:46925096 [GRCh37]
Chr21:21q22.3
pathogenic
NM_001379500.1(COL18A1):c.3217-63A>T single nucleotide variant not specified [RCV001261620] Chr21:45507498 [GRCh38]
Chr21:46927412 [GRCh37]
Chr21:21q22.3
benign
NM_001379500.1(COL18A1):c.2931dup (p.Ile978fs) duplication early onset and severe retinal dystrophy [RCV001270473] Chr21:45505195..45505196 [GRCh38]
Chr21:46925109..46925110 [GRCh37]
Chr21:21q22.3
pathogenic
NM_001379500.1(COL18A1):c.3532G>A (p.Gly1178Ser) single nucleotide variant not provided [RCV001325283] Chr21:45510100 [GRCh38]
Chr21:46930014 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.3466G>A (p.Ala1156Thr) single nucleotide variant Knobloch syndrome [RCV001329611]|not provided [RCV001863205] Chr21:45509572 [GRCh38]
Chr21:46929486 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.2819C>G (p.Pro940Arg) single nucleotide variant not provided [RCV001297753] Chr21:45504507 [GRCh38]
Chr21:46924421 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.2771G>A (p.Arg924Lys) single nucleotide variant not provided [RCV001309323] Chr21:45504459 [GRCh38]
Chr21:46924373 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.3311C>T (p.Pro1104Leu) single nucleotide variant not provided [RCV001362374] Chr21:45509417 [GRCh38]
Chr21:46929331 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.3183C>T (p.Tyr1061=) single nucleotide variant not provided [RCV001392109] Chr21:45505933 [GRCh38]
Chr21:46925847 [GRCh37]
Chr21:21q22.3
likely benign
NM_194255.4(SLC19A1):c.631TTC[1] (p.Phe212del) microsatellite Megaloblastic anemia, folate-responsive [RCV001796461] Chr21:45531702..45531704 [GRCh38]
Chr21:46951616..46951618 [GRCh37]
Chr21:21q22.3
pathogenic
NM_001379500.1(COL18A1):c.3607C>T (p.Arg1203Cys) single nucleotide variant not provided [RCV001374229] Chr21:45510175 [GRCh38]
Chr21:46930089 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.2947C>T (p.Arg983Cys) single nucleotide variant Glaucoma, primary closed-angle [RCV002504442]|not provided [RCV001298092] Chr21:45505212 [GRCh38]
Chr21:46925126 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.3295G>A (p.Asp1099Asn) single nucleotide variant not provided [RCV001303430] Chr21:45509401 [GRCh38]
Chr21:46929315 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.3524T>C (p.Leu1175Pro) single nucleotide variant not provided [RCV001327326] Chr21:45510092 [GRCh38]
Chr21:46930006 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.3133G>A (p.Glu1045Lys) single nucleotide variant not provided [RCV001346834] Chr21:45505883 [GRCh38]
Chr21:46925797 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.3757G>A (p.Gly1253Arg) single nucleotide variant Glaucoma, primary closed-angle [RCV002486419]|not provided [RCV001347335] Chr21:45511174 [GRCh38]
Chr21:46931088 [GRCh37]
Chr21:21q22.3
uncertain significance
GRCh37/hg19 21q11.2-22.3(chr21:14420615-48080926)x3 copy number gain Complete trisomy 21 syndrome [RCV002284306] Chr21:14420615..48080926 [GRCh37]
Chr21:21q11.2-22.3
pathogenic
NM_001379500.1(COL18A1):c.3249G>A (p.Thr1083=) single nucleotide variant not provided [RCV001374359] Chr21:45507593 [GRCh38]
Chr21:46927507 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.2948G>A (p.Arg983His) single nucleotide variant Glaucoma, primary closed-angle [RCV002499687]|not provided [RCV001344386] Chr21:45505213 [GRCh38]
Chr21:46925127 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.2822C>T (p.Pro941Leu) single nucleotide variant not provided [RCV001337301] Chr21:45504510 [GRCh38]
Chr21:46924424 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.3958A>G (p.Ser1320Gly) single nucleotide variant not provided [RCV001370755] Chr21:45512336 [GRCh38]
Chr21:46932250 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.3115A>G (p.Met1039Val) single nucleotide variant not provided [RCV001364338] Chr21:45505865 [GRCh38]
Chr21:46925779 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.3875_3881del (p.Glu1292fs) deletion not provided [RCV001339641] Chr21:45512250..45512256 [GRCh38]
Chr21:46932164..46932170 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.3294C>T (p.His1098=) single nucleotide variant not provided [RCV001413988] Chr21:45509400 [GRCh38]
Chr21:46929314 [GRCh37]
Chr21:21q22.3
likely benign
NM_030582.4(COL18A1):c.3372A>C (p.Pro1124=) single nucleotide variant not provided [RCV001413504] Chr21:45504520 [GRCh38]
Chr21:46924434 [GRCh37]
Chr21:21q22.3
likely benign
NM_001379500.1(COL18A1):c.3380G>A (p.Arg1127His) single nucleotide variant not provided [RCV001339737] Chr21:45509486 [GRCh38]
Chr21:46929400 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.3690C>G (p.Leu1230=) single nucleotide variant not provided [RCV001499103] Chr21:45510258 [GRCh38]
Chr21:46930172 [GRCh37]
Chr21:21q22.3
likely benign
NM_001379500.1(COL18A1):c.3217-6T>A single nucleotide variant not provided [RCV001475088] Chr21:45507555 [GRCh38]
Chr21:46927469 [GRCh37]
Chr21:21q22.3
likely benign
NM_001379500.1(COL18A1):c.3217-18C>T single nucleotide variant not provided [RCV001465234] Chr21:45507543 [GRCh38]
Chr21:46927457 [GRCh37]
Chr21:21q22.3
likely benign
NM_001379500.1(COL18A1):c.3369C>T (p.Ala1123=) single nucleotide variant not provided [RCV001520738] Chr21:45509475 [GRCh38]
Chr21:46929389 [GRCh37]
Chr21:21q22.3
benign
NM_001379500.1(COL18A1):c.3809+17G>A single nucleotide variant not provided [RCV001519806] Chr21:45511243 [GRCh38]
Chr21:46931157 [GRCh37]
Chr21:21q22.3
benign
NM_001379500.1(COL18A1):c.3694-79_3694-78del deletion not provided [RCV001539237] Chr21:45511032..45511033 [GRCh38]
Chr21:46930946..46930947 [GRCh37]
Chr21:21q22.3
benign
NM_001379500.1(COL18A1):c.2684-19G>A single nucleotide variant not provided [RCV001518375] Chr21:45503992 [GRCh38]
Chr21:46923906 [GRCh37]
Chr21:21q22.3
benign
NM_001379500.1(COL18A1):c.3048GCCCCCTGG[3] (p.1011PPG[5]) microsatellite not provided [RCV001446139] Chr21:45505383..45505384 [GRCh38]
Chr21:46925297..46925298 [GRCh37]
Chr21:21q22.3
likely benign
NM_001379500.1(COL18A1):c.3969C>T (p.His1323=) single nucleotide variant not provided [RCV001407087] Chr21:45512347 [GRCh38]
Chr21:46932261 [GRCh37]
Chr21:21q22.3
likely benign
NM_001379500.1(COL18A1):c.3316C>T (p.Arg1106Trp) single nucleotide variant Glaucoma, primary closed-angle [RCV002501574]|not provided [RCV001448753] Chr21:45509422 [GRCh38]
Chr21:46929336 [GRCh37]
Chr21:21q22.3
likely benign
NM_001379500.1(COL18A1):c.3496-17C>T single nucleotide variant not provided [RCV001432664] Chr21:45510047 [GRCh38]
Chr21:46929961 [GRCh37]
Chr21:21q22.3
likely benign
NM_001379500.1(COL18A1):c.2958T>C (p.Pro986=) single nucleotide variant not provided [RCV001449303] Chr21:45505223 [GRCh38]
Chr21:46925137 [GRCh37]
Chr21:21q22.3
likely benign
NM_001379500.1(COL18A1):c.3672C>G (p.Ala1224=) single nucleotide variant not provided [RCV001449519] Chr21:45510240 [GRCh38]
Chr21:46930154 [GRCh37]
Chr21:21q22.3
likely benign
NM_001379500.1(COL18A1):c.2901C>G (p.Pro967=) single nucleotide variant not provided [RCV001403716] Chr21:45505166 [GRCh38]
Chr21:46925080 [GRCh37]
Chr21:21q22.3
likely benign
NM_001379500.1(COL18A1):c.3480C>T (p.Arg1160=) single nucleotide variant not provided [RCV001442623] Chr21:45509586 [GRCh38]
Chr21:46929500 [GRCh37]
Chr21:21q22.3
likely benign
NM_001379500.1(COL18A1):c.3279C>A (p.Pro1093=) single nucleotide variant not provided [RCV001435177] Chr21:45509385 [GRCh38]
Chr21:46929299 [GRCh37]
Chr21:21q22.3
likely benign
NM_001379500.1(COL18A1):c.2961C>A (p.Pro987=) single nucleotide variant not provided [RCV001450303] Chr21:45505226 [GRCh38]
Chr21:46925140 [GRCh37]
Chr21:21q22.3
likely benign
NM_001379500.1(COL18A1):c.2964CCCCCCAGG[3] (p.985GPP[5]) microsatellite not provided [RCV001502759] Chr21:45505226..45505227 [GRCh38]
Chr21:46925140..46925141 [GRCh37]
Chr21:21q22.3
likely benign
NM_001379500.1(COL18A1):c.3694-95_3694-91del deletion not provided [RCV001715485] Chr21:45511016..45511020 [GRCh38]
Chr21:46930930..46930934 [GRCh37]
Chr21:21q22.3
benign
NM_001379500.1(COL18A1):c.3694-41C>A single nucleotide variant not provided [RCV001716519] Chr21:45511070 [GRCh38]
Chr21:46930984 [GRCh37]
Chr21:21q22.3
benign
NM_001379500.1(COL18A1):c.3810-11G>A single nucleotide variant not provided [RCV001519655] Chr21:45512177 [GRCh38]
Chr21:46932091 [GRCh37]
Chr21:21q22.3
benign
NM_001379500.1(COL18A1):c.3965A>G (p.His1322Arg) single nucleotide variant not provided [RCV001482355] Chr21:45512343 [GRCh38]
Chr21:46932257 [GRCh37]
Chr21:21q22.3
likely benign
NM_001379500.1(COL18A1):c.3087+71A>G single nucleotide variant not provided [RCV001687225] Chr21:45505502 [GRCh38]
Chr21:46925416 [GRCh37]
Chr21:21q22.3
benign
NM_001379500.1(COL18A1):c.3905C>T (p.Thr1302Met) single nucleotide variant not provided [RCV001589458] Chr21:45512283 [GRCh38]
Chr21:46932197 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.3048GCCCCCTGG[1] (p.1011PPG[3]) microsatellite not provided [RCV001517020] Chr21:45505384..45505392 [GRCh38]
Chr21:46925298..46925306 [GRCh37]
Chr21:21q22.3
benign
NM_001379500.1(COL18A1):c.3250-176A>G single nucleotide variant not provided [RCV001671852] Chr21:45509180 [GRCh38]
Chr21:46929094 [GRCh37]
Chr21:21q22.3
benign
NM_001379500.1(COL18A1):c.3087+80C>A single nucleotide variant not provided [RCV001614505] Chr21:45505511 [GRCh38]
Chr21:46925425 [GRCh37]
Chr21:21q22.3
benign
NM_001379500.1(COL18A1):c.3694-172A>G single nucleotide variant not provided [RCV001654132] Chr21:45510939 [GRCh38]
Chr21:46930853 [GRCh37]
Chr21:21q22.3
benign
NM_001379500.1(COL18A1):c.2982G>C (p.Gly994=) single nucleotide variant not provided [RCV001513043] Chr21:45505247 [GRCh38]
Chr21:46925161 [GRCh37]
Chr21:21q22.3
benign|likely benign
NM_001379500.1(COL18A1):c.2823_2840del (p.938PGP[2]) deletion not provided [RCV001513041] Chr21:45504503..45504520 [GRCh38]
Chr21:46924417..46924434 [GRCh37]
Chr21:21q22.3
benign
NM_001379500.1(COL18A1):c.3310_3311delinsTG (p.Pro1104Trp) indel Knobloch syndrome [RCV001724766] Chr21:45509416..45509417 [GRCh38]
Chr21:46929330..46929331 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.2814CGGCCCCCC[1] (p.938PGP[3]) microsatellite not provided [RCV001523437] Chr21:45504500..45504508 [GRCh38]
Chr21:46924414..46924422 [GRCh37]
Chr21:21q22.3
benign
NM_001379500.1(COL18A1):c.2970A>C (p.Pro990=) single nucleotide variant not provided [RCV001456832] Chr21:45505235 [GRCh38]
Chr21:46925149 [GRCh37]
Chr21:21q22.3
likely benign
NM_001379500.1(COL18A1):c.3609C>T (p.Arg1203=) single nucleotide variant not provided [RCV001514519] Chr21:45510177 [GRCh38]
Chr21:46930091 [GRCh37]
Chr21:21q22.3
benign
NM_001379500.1(COL18A1):c.3077C>T (p.Ala1026Val) single nucleotide variant not provided [RCV001401517] Chr21:45505421 [GRCh38]
Chr21:46925335 [GRCh37]
Chr21:21q22.3
likely benign
NM_001379500.1(COL18A1):c.3496-5C>T single nucleotide variant not provided [RCV001513044] Chr21:45510059 [GRCh38]
Chr21:46929973 [GRCh37]
Chr21:21q22.3
benign
NM_001379500.1(COL18A1):c.3496-18G>A single nucleotide variant not provided [RCV001513075] Chr21:45510046 [GRCh38]
Chr21:46929960 [GRCh37]
Chr21:21q22.3
benign
NM_001379500.1(COL18A1):c.3495+13C>G single nucleotide variant not provided [RCV001520512] Chr21:45509614 [GRCh38]
Chr21:46929528 [GRCh37]
Chr21:21q22.3
benign
NM_001379500.1(COL18A1):c.2869-14G>A single nucleotide variant not provided [RCV001518914] Chr21:45505120 [GRCh38]
Chr21:46925034 [GRCh37]
Chr21:21q22.3
benign
NM_001379500.1(COL18A1):c.3920C>T (p.Ser1307Leu) single nucleotide variant not provided [RCV001451600] Chr21:45512298 [GRCh38]
Chr21:46932212 [GRCh37]
Chr21:21q22.3
likely benign
NM_001379500.1(COL18A1):c.3198C>T (p.Asn1066=) single nucleotide variant not provided [RCV001519713] Chr21:45505948 [GRCh38]
Chr21:46925862 [GRCh37]
Chr21:21q22.3
benign
NM_001379500.1(COL18A1):c.3014-19C>T single nucleotide variant not provided [RCV001519731] Chr21:45505339 [GRCh38]
Chr21:46925253 [GRCh37]
Chr21:21q22.3
benign
NM_001379500.1(COL18A1):c.3495+14C>G single nucleotide variant Glaucoma, primary closed-angle [RCV002506624]|not provided [RCV001519174]|not specified [RCV001699569] Chr21:45509615 [GRCh38]
Chr21:46929529 [GRCh37]
Chr21:21q22.3
benign|likely benign
NM_001379500.1(COL18A1):c.2961C>T (p.Pro987=) single nucleotide variant not provided [RCV001521482] Chr21:45505226 [GRCh38]
Chr21:46925140 [GRCh37]
Chr21:21q22.3
benign
NM_001379500.1(COL18A1):c.2824_2832= (p.Gly942_Pro944=) variation not provided [RCV001521796] Chr21:45504512..45504520 [GRCh38]
Chr21:46924426..46924434 [GRCh37]
Chr21:21q22.3
benign
NM_001379500.1(COL18A1):c.3075C>T (p.Gly1025=) single nucleotide variant not provided [RCV001504134] Chr21:45505419 [GRCh38]
Chr21:46925333 [GRCh37]
Chr21:21q22.3
likely benign
NM_001379500.1(COL18A1):c.3809+16C>T single nucleotide variant not provided [RCV001398723] Chr21:45511242 [GRCh38]
Chr21:46931156 [GRCh37]
Chr21:21q22.3
likely benign
NM_001379500.1(COL18A1):c.3311C>G (p.Pro1104Arg) single nucleotide variant not provided [RCV001519944]|not specified [RCV001821834] Chr21:45509417 [GRCh38]
Chr21:46929331 [GRCh37]
Chr21:21q22.3
benign
NM_001379500.1(COL18A1):c.3750G>A (p.Leu1250=) single nucleotide variant not provided [RCV001516122] Chr21:45511167 [GRCh38]
Chr21:46931081 [GRCh37]
Chr21:21q22.3
benign
NM_001379500.1(COL18A1):c.3314G>A (p.Arg1105Gln) single nucleotide variant not provided [RCV001522579]|not specified [RCV001821841] Chr21:45509420 [GRCh38]
Chr21:46929334 [GRCh37]
Chr21:21q22.3
benign|likely benign
NM_001379500.1(COL18A1):c.3386C>A (p.Pro1129His) single nucleotide variant Knobloch syndrome [RCV001761653] Chr21:45509492 [GRCh38]
Chr21:46929406 [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_030582.4(COL18A1):c.3367_3384del (p.Pro1123_Gly1128del) deletion not specified [RCV001818083] Chr21:45504521..45504538 [GRCh38]
Chr21:46924435..46924452 [GRCh37]
Chr21:21q22.3
benign
NM_001379500.1(COL18A1):c.3013+3A>C single nucleotide variant Knobloch syndrome [RCV000018656] Chr21:45505281 [GRCh38]
Chr21:46925195 [GRCh37]
Chr21:21q22.3
pathogenic
NM_001379500.1(COL18A1):c.2785G>A (p.Gly929Ser) single nucleotide variant not provided [RCV002001507] Chr21:45504473 [GRCh38]
Chr21:46924387 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.2837C>T (p.Pro946Leu) single nucleotide variant not provided [RCV002045589] Chr21:45504534 [GRCh38]
Chr21:46924448 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.3379C>T (p.Arg1127Cys) single nucleotide variant not provided [RCV001985368] Chr21:45509485 [GRCh38]
Chr21:46929399 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.3478C>T (p.Arg1160Cys) single nucleotide variant not provided [RCV002045293] Chr21:45509584 [GRCh38]
Chr21:46929498 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.3216+6C>T single nucleotide variant not provided [RCV001874119] Chr21:45505972 [GRCh38]
Chr21:46925886 [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
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
NM_001379500.1(COL18A1):c.3430G>A (p.Val1144Met) single nucleotide variant not provided [RCV001895765] Chr21:45509536 [GRCh38]
Chr21:46929450 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.3106C>A (p.Arg1036Ser) single nucleotide variant not provided [RCV001971253] Chr21:45505856 [GRCh38]
Chr21:46925770 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.3887C>T (p.Thr1296Met) single nucleotide variant not provided [RCV001950719] Chr21:45512265 [GRCh38]
Chr21:46932179 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.3358G>A (p.Asp1120Asn) single nucleotide variant not provided [RCV001966395] Chr21:45509464 [GRCh38]
Chr21:46929378 [GRCh37]
Chr21:21q22.3
uncertain significance
NC_000021.8:g.(?_43160998)_(47865240_?)dup duplication Cataract 9 multiple types [RCV001913783]|HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED [RCV001913780]|Leukocyte adhesion deficiency 1 [RCV001913784]|Polyglandular autoimmune syndrome, type 1 [RCV001913781]|Primary ciliary dyskinesia [RCV001913782] Chr21:43160998..47865240 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.2755G>A (p.Gly919Arg) single nucleotide variant not provided [RCV001949865] Chr21:45504443 [GRCh38]
Chr21:46924357 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.3580C>T (p.Arg1194Trp) single nucleotide variant not provided [RCV001863463] Chr21:45510148 [GRCh38]
Chr21:46930062 [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
NM_001379500.1(COL18A1):c.2824G>A (p.Gly942Ser) single nucleotide variant not provided [RCV001913104] Chr21:45504521 [GRCh38]
Chr21:46924435 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.3760G>T (p.Ala1254Ser) single nucleotide variant not provided [RCV001926404] Chr21:45511177 [GRCh38]
Chr21:46931091 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.3491C>T (p.Pro1164Leu) single nucleotide variant not provided [RCV001965168] Chr21:45509597 [GRCh38]
Chr21:46929511 [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
NM_001379500.1(COL18A1):c.3297C>A (p.Asp1099Glu) single nucleotide variant not provided [RCV002008637] Chr21:45509403 [GRCh38]
Chr21:46929317 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.3310C>T (p.Pro1104Ser) single nucleotide variant not provided [RCV001929677] Chr21:45509416 [GRCh38]
Chr21:46929330 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_194255.4(SLC19A1):c.1403C>T (p.Pro468Leu) single nucleotide variant not provided [RCV002007886] Chr21:45516031 [GRCh38]
Chr21:46935945 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.3421A>G (p.Ser1141Gly) single nucleotide variant not provided [RCV001949915] Chr21:45509527 [GRCh38]
Chr21:46929441 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.2707C>T (p.Gln903Ter) single nucleotide variant not provided [RCV001950134] Chr21:45504034 [GRCh38]
Chr21:46923948 [GRCh37]
Chr21:21q22.3
pathogenic
NM_001379500.1(COL18A1):c.3154A>G (p.Ile1052Val) single nucleotide variant not provided [RCV002005263] Chr21:45505904 [GRCh38]
Chr21:46925818 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.3160G>A (p.Val1054Met) single nucleotide variant not provided [RCV001929101] Chr21:45505910 [GRCh38]
Chr21:46925824 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.3749T>C (p.Leu1250Pro) single nucleotide variant not provided [RCV001863899] Chr21:45511166 [GRCh38]
Chr21:46931080 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.2983C>A (p.Pro995Thr) single nucleotide variant not provided [RCV002044995] Chr21:45505248 [GRCh38]
Chr21:46925162 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.2781dup (p.Gly928fs) duplication not provided [RCV001929516] Chr21:45504466..45504467 [GRCh38]
Chr21:46924380..46924381 [GRCh37]
Chr21:21q22.3
pathogenic
NM_001379500.1(COL18A1):c.3396G>T (p.Gln1132His) single nucleotide variant not provided [RCV001896858] Chr21:45509502 [GRCh38]
Chr21:46929416 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.3265G>A (p.Ala1089Thr) single nucleotide variant not provided [RCV001909383] Chr21:45509371 [GRCh38]
Chr21:46929285 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.3440G>A (p.Arg1147Gln) single nucleotide variant not provided [RCV001985298] Chr21:45509546 [GRCh38]
Chr21:46929460 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.3520C>T (p.Pro1174Ser) single nucleotide variant not provided [RCV001986596] Chr21:45510088 [GRCh38]
Chr21:46930002 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.3306dup (p.Tyr1103fs) duplication not provided [RCV001950486] Chr21:45509408..45509409 [GRCh38]
Chr21:46929322..46929323 [GRCh37]
Chr21:21q22.3
pathogenic
NM_001379500.1(COL18A1):c.3899C>T (p.Ser1300Leu) single nucleotide variant not provided [RCV001950490] Chr21:45512277 [GRCh38]
Chr21:46932191 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.3006C>G (p.His1002Gln) single nucleotide variant not provided [RCV001930051] Chr21:45505271 [GRCh38]
Chr21:46925185 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.3929G>A (p.Gly1310Glu) single nucleotide variant not provided [RCV001971711] Chr21:45512307 [GRCh38]
Chr21:46932221 [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_001379500.1(COL18A1):c.2717C>G (p.Ala906Gly) single nucleotide variant not provided [RCV002043756] Chr21:45504044 [GRCh38]
Chr21:46923958 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.3076G>A (p.Ala1026Thr) single nucleotide variant not provided [RCV001984297] Chr21:45505420 [GRCh38]
Chr21:46925334 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.3206G>A (p.Arg1069Gln) single nucleotide variant not provided [RCV001891188] Chr21:45505956 [GRCh38]
Chr21:46925870 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_194255.4(SLC19A1):c.1753G>A (p.Gly585Ser) single nucleotide variant not provided [RCV001965951] Chr21:45515681 [GRCh38]
Chr21:46935595 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.2728G>A (p.Gly910Arg) single nucleotide variant Knobloch syndrome 1 [RCV002290834]|not provided [RCV002004102] Chr21:45504416 [GRCh38]
Chr21:46924330 [GRCh37]
Chr21:21q22.3
likely pathogenic|uncertain significance
NM_001379500.1(COL18A1):c.3155T>A (p.Ile1052Asn) single nucleotide variant not provided [RCV001969169] Chr21:45505905 [GRCh38]
Chr21:46925819 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.3188G>C (p.Arg1063Pro) single nucleotide variant not provided [RCV002040624] Chr21:45505938 [GRCh38]
Chr21:46925852 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_194255.4(SLC19A1):c.443G>A (p.Arg148His) single nucleotide variant not provided [RCV001967907] Chr21:45531895 [GRCh38]
Chr21:46951809 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.3048GCCCCCTGG[4] (p.1011PPG[6]) microsatellite not provided [RCV001964240] Chr21:45505383..45505384 [GRCh38]
Chr21:46925297..46925298 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.3691A>G (p.Lys1231Glu) single nucleotide variant not provided [RCV001966546] Chr21:45510259 [GRCh38]
Chr21:46930173 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.3250-3C>T single nucleotide variant not provided [RCV002006668] Chr21:45509353 [GRCh38]
Chr21:46929267 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.3590_3591del (p.Gly1197fs) deletion not provided [RCV001780528] Chr21:45510156..45510157 [GRCh38]
Chr21:46930070..46930071 [GRCh37]
Chr21:21q22.3
pathogenic
NM_001379500.1(COL18A1):c.3058C>T (p.Pro1020Ser) single nucleotide variant not provided [RCV001889639] Chr21:45505402 [GRCh38]
Chr21:46925316 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.3340C>G (p.Arg1114Gly) single nucleotide variant not provided [RCV001893154] Chr21:45509446 [GRCh38]
Chr21:46929360 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.3007A>G (p.Arg1003Gly) single nucleotide variant not provided [RCV001984405] Chr21:45505272 [GRCh38]
Chr21:46925186 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.3242G>A (p.Arg1081Gln) single nucleotide variant not provided [RCV001947330] Chr21:45507586 [GRCh38]
Chr21:46927500 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.2937C>G (p.Gly979=) single nucleotide variant not provided [RCV001912197] Chr21:45505202 [GRCh38]
Chr21:46925116 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.3586G>A (p.Val1196Met) single nucleotide variant not provided [RCV001909075] Chr21:45510154 [GRCh38]
Chr21:46930068 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.3956C>T (p.Ala1319Val) single nucleotide variant not provided [RCV001945981] Chr21:45512334 [GRCh38]
Chr21:46932248 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.2728-6C>A single nucleotide variant not provided [RCV002021197] Chr21:45504410 [GRCh38]
Chr21:46924324 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.3388G>A (p.Glu1130Lys) single nucleotide variant not provided [RCV001910828] Chr21:45509494 [GRCh38]
Chr21:46929408 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.2979_2988dup (p.Ser997fs) duplication not provided [RCV001967402] Chr21:45505243..45505244 [GRCh38]
Chr21:46925157..46925158 [GRCh37]
Chr21:21q22.3
pathogenic
NM_001379500.1(COL18A1):c.3107G>A (p.Arg1036His) single nucleotide variant not provided [RCV001967277] Chr21:45505857 [GRCh38]
Chr21:46925771 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.3043C>G (p.Pro1015Ala) single nucleotide variant not provided [RCV002003358] Chr21:45505387 [GRCh38]
Chr21:46925301 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.3928G>C (p.Gly1310Arg) single nucleotide variant not provided [RCV001909580] Chr21:45512306 [GRCh38]
Chr21:46932220 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.2818C>T (p.Pro940Ser) single nucleotide variant not provided [RCV001949125] Chr21:45504506 [GRCh38]
Chr21:46924420 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.2869-5C>T single nucleotide variant not provided [RCV001928516] Chr21:45505129 [GRCh38]
Chr21:46925043 [GRCh37]
Chr21:21q22.3
likely benign
NM_001379500.1(COL18A1):c.2969C>G (p.Pro990Arg) single nucleotide variant not provided [RCV001986970] Chr21:45505234 [GRCh38]
Chr21:46925148 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.2921G>A (p.Gly974Glu) single nucleotide variant not provided [RCV001928213] Chr21:45505186 [GRCh38]
Chr21:46925100 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.3940C>T (p.Leu1314=) single nucleotide variant not provided [RCV001928233] Chr21:45512318 [GRCh38]
Chr21:46932232 [GRCh37]
Chr21:21q22.3
likely benign
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
NM_001379500.1(COL18A1):c.3884G>A (p.Arg1295Gln) single nucleotide variant not provided [RCV001986084] Chr21:45512262 [GRCh38]
Chr21:46932176 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.3165C>T (p.Ala1055=) single nucleotide variant not provided [RCV001892874] Chr21:45505915 [GRCh38]
Chr21:46925829 [GRCh37]
Chr21:21q22.3
likely benign
NM_001379500.1(COL18A1):c.3495+20G>A single nucleotide variant not provided [RCV001969097] Chr21:45509621 [GRCh38]
Chr21:46929535 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.3926T>A (p.Leu1309Gln) single nucleotide variant not provided [RCV001872176] Chr21:45512304 [GRCh38]
Chr21:46932218 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.3248C>T (p.Thr1083Met) single nucleotide variant not provided [RCV001786226] Chr21:45507592 [GRCh38]
Chr21:46927506 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.2772G>T (p.Arg924Ser) single nucleotide variant not provided [RCV001889980] Chr21:45504460 [GRCh38]
Chr21:46924374 [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
NM_001379500.1(COL18A1):c.3764G>C (p.Arg1255Pro) single nucleotide variant not provided [RCV002024492] Chr21:45511181 [GRCh38]
Chr21:46931095 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.3011A>G (p.Gln1004Arg) single nucleotide variant not provided [RCV002004458] Chr21:45505276 [GRCh38]
Chr21:46925190 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.3013+10dup duplication not provided [RCV001966979] Chr21:45505287..45505288 [GRCh38]
Chr21:46925201..46925202 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.3719A>G (p.Glu1240Gly) single nucleotide variant not provided [RCV001872349] Chr21:45511136 [GRCh38]
Chr21:46931050 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.3130C>T (p.His1044Tyr) single nucleotide variant not provided [RCV002043860] Chr21:45505880 [GRCh38]
Chr21:46925794 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.3439C>T (p.Arg1147Trp) single nucleotide variant not provided [RCV001928717] Chr21:45509545 [GRCh38]
Chr21:46929459 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.2766C>T (p.Gly922=) single nucleotide variant not provided [RCV001948295] Chr21:45504454 [GRCh38]
Chr21:46924368 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.2747G>A (p.Gly916Asp) single nucleotide variant not provided [RCV001967250] Chr21:45504435 [GRCh38]
Chr21:46924349 [GRCh37]
Chr21:21q22.3
uncertain significance
GRCh37/hg19 21q22.3(chr21:45265857-47057233) copy number loss not specified [RCV002052743] Chr21:45265857..47057233 [GRCh37]
Chr21:21q22.3
pathogenic
NC_000021.8:g.(?_45919666)_(47865240_?)del deletion not provided [RCV001947021] Chr21:45919666..47865240 [GRCh37]
Chr21:21q22.3
pathogenic
NM_001379500.1(COL18A1):c.3087+6T>C single nucleotide variant not provided [RCV001912488] Chr21:45505437 [GRCh38]
Chr21:46925351 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.3923T>C (p.Leu1308Pro) single nucleotide variant not provided [RCV002023581] Chr21:45512301 [GRCh38]
Chr21:46932215 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.3941dup (p.Gln1316fs) duplication not provided [RCV001780808] Chr21:45512318..45512319 [GRCh38]
Chr21:46932232..46932233 [GRCh37]
Chr21:21q22.3
likely pathogenic
NM_001379500.1(COL18A1):c.3664C>T (p.Arg1222Cys) single nucleotide variant not provided [RCV002039850] Chr21:45510232 [GRCh38]
Chr21:46930146 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.3434A>G (p.His1145Arg) single nucleotide variant not provided [RCV002039908] Chr21:45509540 [GRCh38]
Chr21:46929454 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.2932_2964del (p.Ile978_Gly988del) deletion not provided [RCV001872281] Chr21:45505191..45505223 [GRCh38]
Chr21:46925105..46925137 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.3470A>C (p.His1157Pro) single nucleotide variant not provided [RCV002022400] Chr21:45509576 [GRCh38]
Chr21:46929490 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.3916T>G (p.Ser1306Ala) single nucleotide variant not provided [RCV001871247] Chr21:45512294 [GRCh38]
Chr21:46932208 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.3655C>T (p.Arg1219Cys) single nucleotide variant not provided [RCV001893118] Chr21:45510223 [GRCh38]
Chr21:46930137 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.3142G>A (p.Glu1048Lys) single nucleotide variant not provided [RCV001891087] Chr21:45505892 [GRCh38]
Chr21:46925806 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.3444G>A (p.Pro1148=) single nucleotide variant not provided [RCV001894667] Chr21:45509550 [GRCh38]
Chr21:46929464 [GRCh37]
Chr21:21q22.3
likely benign
NM_001379500.1(COL18A1):c.3979G>A (p.Val1327Met) single nucleotide variant not provided [RCV001871093] Chr21:45512357 [GRCh38]
Chr21:46932271 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.3449G>A (p.Arg1150Gln) single nucleotide variant not provided [RCV001985931] Chr21:45509555 [GRCh38]
Chr21:46929469 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.3005A>G (p.His1002Arg) single nucleotide variant not provided [RCV002006782] Chr21:45505270 [GRCh38]
Chr21:46925184 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.3227G>C (p.Arg1076Pro) single nucleotide variant not provided [RCV002006814] Chr21:45507571 [GRCh38]
Chr21:46927485 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.3970G>A (p.Ala1324Thr) single nucleotide variant not provided [RCV002023491] Chr21:45512348 [GRCh38]
Chr21:46932262 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.2786G>A (p.Gly929Asp) single nucleotide variant not provided [RCV001983547] Chr21:45504474 [GRCh38]
Chr21:46924388 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.3764G>T (p.Arg1255Leu) single nucleotide variant not provided [RCV001893472] Chr21:45511181 [GRCh38]
Chr21:46931095 [GRCh37]
Chr21:21q22.3
uncertain significance
GRCh37/hg19 21q22.3(chr21:45773272-48097372) copy number loss not specified [RCV002052744] Chr21:45773272..48097372 [GRCh37]
Chr21:21q22.3
pathogenic
GRCh37/hg19 21q22.3(chr21:46777490-47168397)x3 copy number gain not provided [RCV001834466] Chr21:46777490..47168397 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.3889G>C (p.Glu1297Gln) single nucleotide variant not provided [RCV001999162] Chr21:45512267 [GRCh38]
Chr21:46932181 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.2786dup (p.Gly930fs) duplication not provided [RCV001957130] Chr21:45504469..45504470 [GRCh38]
Chr21:46924383..46924384 [GRCh37]
Chr21:21q22.3
pathogenic
NM_001379500.1(COL18A1):c.2984C>A (p.Pro995His) single nucleotide variant not provided [RCV002019861] Chr21:45505249 [GRCh38]
Chr21:46925163 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.3077C>G (p.Ala1026Gly) single nucleotide variant not provided [RCV001881809] Chr21:45505421 [GRCh38]
Chr21:46925335 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.3350G>A (p.Arg1117Gln) single nucleotide variant not provided [RCV001942700] Chr21:45509456 [GRCh38]
Chr21:46929370 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.3964C>A (p.His1322Asn) single nucleotide variant not provided [RCV001962834] Chr21:45512342 [GRCh38]
Chr21:46932256 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.3388_3393del (p.Glu1130_Pro1131del) deletion not provided [RCV001954547] Chr21:45509490..45509495 [GRCh38]
Chr21:46929404..46929409 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.3053dup (p.Gly1019fs) duplication not provided [RCV001999903] Chr21:45505392..45505393 [GRCh38]
Chr21:46925306..46925307 [GRCh37]
Chr21:21q22.3
pathogenic
NM_001379500.1(COL18A1):c.3661_3677del (p.Asp1221fs) deletion not provided [RCV001999934] Chr21:45510221..45510237 [GRCh38]
Chr21:46930135..46930151 [GRCh37]
Chr21:21q22.3
pathogenic
NM_001379500.1(COL18A1):c.2822C>G (p.Pro941Arg) single nucleotide variant not provided [RCV001905723] Chr21:45504510 [GRCh38]
Chr21:46924424 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_194255.4(SLC19A1):c.1024G>T (p.Val342Phe) single nucleotide variant not provided [RCV001942425] Chr21:45530897 [GRCh38]
Chr21:46950811 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.3812C>T (p.Pro1271Leu) single nucleotide variant not provided [RCV002038232] Chr21:45512190 [GRCh38]
Chr21:46932104 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.3172G>T (p.Glu1058Ter) single nucleotide variant not provided [RCV001939623] Chr21:45505922 [GRCh38]
Chr21:46925836 [GRCh37]
Chr21:21q22.3
pathogenic
NM_001379500.1(COL18A1):c.2824_2831del (p.Gly942fs) deletion not provided [RCV001974474] Chr21:45504506..45504513 [GRCh38]
Chr21:46924420..46924427 [GRCh37]
Chr21:21q22.3
pathogenic
NM_001379500.1(COL18A1):c.3646A>G (p.Ile1216Val) single nucleotide variant not provided [RCV002033228] Chr21:45510214 [GRCh38]
Chr21:46930128 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.3764G>A (p.Arg1255His) single nucleotide variant not provided [RCV001939075] Chr21:45511181 [GRCh38]
Chr21:46931095 [GRCh37]
Chr21:21q22.3
uncertain significance
NC_000021.8:g.(?_46306283)_(47865240_?)del deletion not provided [RCV001943317] Chr21:46306283..47865240 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.2728-2del deletion not provided [RCV001980753] Chr21:45504414 [GRCh38]
Chr21:46924328 [GRCh37]
Chr21:21q22.3
likely pathogenic
NM_001379500.1(COL18A1):c.2961_2978dup (p.985GPP[6]) duplication not provided [RCV001906484] Chr21:45505223..45505224 [GRCh38]
Chr21:46925137..46925138 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.3568T>C (p.Phe1190Leu) single nucleotide variant not provided [RCV001899813] Chr21:45510136 [GRCh38]
Chr21:46930050 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_194255.4(SLC19A1):c.402C>A (p.Ile134=) single nucleotide variant not provided [RCV001980891] Chr21:45531936 [GRCh38]
Chr21:46951850 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.3649G>A (p.Val1217Met) single nucleotide variant not provided [RCV001979743] Chr21:45510217 [GRCh38]
Chr21:46930131 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.3581G>A (p.Arg1194Gln) single nucleotide variant not provided [RCV001915869] Chr21:45510149 [GRCh38]
Chr21:46930063 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_194255.4(SLC19A1):c.1151+16G>T single nucleotide variant not provided [RCV001999526] Chr21:45530754 [GRCh38]
Chr21:46950668 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.2818C>A (p.Pro940Thr) single nucleotide variant not provided [RCV002001410] Chr21:45504506 [GRCh38]
Chr21:46924420 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.3628C>G (p.Leu1210Val) single nucleotide variant not provided [RCV001979750] Chr21:45510196 [GRCh38]
Chr21:46930110 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.4008_*2dup (p.Thr1336_Ter1340=) duplication not provided [RCV001869997] Chr21:45512384..45512385 [GRCh38]
Chr21:46932298..46932299 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.3773_3775del (p.Ser1258del) deletion not provided [RCV001936062] Chr21:45511188..45511190 [GRCh38]
Chr21:46931102..46931104 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.3608G>A (p.Arg1203His) single nucleotide variant not provided [RCV002020132] Chr21:45510176 [GRCh38]
Chr21:46930090 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.3810-12C>T single nucleotide variant not provided [RCV001875558] Chr21:45512176 [GRCh38]
Chr21:46932090 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.2727G>A (p.Lys909=) single nucleotide variant not provided [RCV001901388] Chr21:45504054 [GRCh38]
Chr21:46923968 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.2772G>C (p.Arg924Ser) single nucleotide variant not provided [RCV001962259] Chr21:45504460 [GRCh38]
Chr21:46924374 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.3664C>G (p.Arg1222Gly) single nucleotide variant not provided [RCV001960979] Chr21:45510232 [GRCh38]
Chr21:46930146 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.3549_3586del (p.Asp1186fs) deletion not provided [RCV001963219] Chr21:45510114..45510151 [GRCh38]
Chr21:46930028..46930065 [GRCh37]
Chr21:21q22.3
pathogenic
NM_001379500.1(COL18A1):c.3553G>A (p.Ala1185Thr) single nucleotide variant not provided [RCV002000279] Chr21:45510121 [GRCh38]
Chr21:46930035 [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_001379500.1(COL18A1):c.3537G>T (p.Met1179Ile) single nucleotide variant not provided [RCV002046691] Chr21:45510105 [GRCh38]
Chr21:46930019 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.2832_2839del (p.Gly945fs) deletion not provided [RCV001920226] Chr21:45504515..45504522 [GRCh38]
Chr21:46924429..46924436 [GRCh37]
Chr21:21q22.3
pathogenic
NM_001379500.1(COL18A1):c.3050_3075del (p.Pro1017fs) deletion not provided [RCV001975123] Chr21:45505389..45505414 [GRCh38]
Chr21:46925303..46925328 [GRCh37]
Chr21:21q22.3
pathogenic
NM_001379500.1(COL18A1):c.3562C>T (p.Gln1188Ter) single nucleotide variant not provided [RCV001975161] Chr21:45510130 [GRCh38]
Chr21:46930044 [GRCh37]
Chr21:21q22.3
pathogenic
NM_194255.4(SLC19A1):c.1165T>A (p.Ser389Thr) single nucleotide variant not provided [RCV001919274] Chr21:45525945 [GRCh38]
Chr21:46945859 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.2882A>G (p.Glu961Gly) single nucleotide variant not provided [RCV001916611] Chr21:45505147 [GRCh38]
Chr21:46925061 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.2927_2978del (p.Pro976fs) deletion not provided [RCV001921239] Chr21:45505188..45505239 [GRCh38]
Chr21:46925102..46925153 [GRCh37]
Chr21:21q22.3
pathogenic
NM_001379500.1(COL18A1):c.2728G>T (p.Gly910Trp) single nucleotide variant not provided [RCV001995029] Chr21:45504416 [GRCh38]
Chr21:46924330 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.3743G>A (p.Gly1248Asp) single nucleotide variant not provided [RCV001933693] Chr21:45511160 [GRCh38]
Chr21:46931074 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.2969_2978dup (p.Gly994fs) duplication not provided [RCV001932611] Chr21:45505228..45505229 [GRCh38]
Chr21:46925142..46925143 [GRCh37]
Chr21:21q22.3
pathogenic
NM_001379500.1(COL18A1):c.2824_2840del (p.Gly942fs) deletion not provided [RCV001994470] Chr21:45504506..45504522 [GRCh38]
Chr21:46924420..46924436 [GRCh37]
Chr21:21q22.3
pathogenic
NM_001379500.1(COL18A1):c.3971C>T (p.Ala1324Val) single nucleotide variant not provided [RCV001996293] Chr21:45512349 [GRCh38]
Chr21:46932263 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.3802C>T (p.Pro1268Ser) single nucleotide variant not provided [RCV001877681] Chr21:45511219 [GRCh38]
Chr21:46931133 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.3079T>G (p.Ser1027Ala) single nucleotide variant not provided [RCV001904464] Chr21:45505423 [GRCh38]
Chr21:46925337 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.2887A>T (p.Ile963Phe) single nucleotide variant not provided [RCV001933961] Chr21:45505152 [GRCh38]
Chr21:46925066 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.3686A>G (p.Asn1229Ser) single nucleotide variant not provided [RCV002015693] Chr21:45510254 [GRCh38]
Chr21:46930168 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.3720G>C (p.Glu1240Asp) single nucleotide variant not provided [RCV002033398] Chr21:45511137 [GRCh38]
Chr21:46931051 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.3509C>T (p.Ala1170Val) single nucleotide variant not provided [RCV002049675] Chr21:45510077 [GRCh38]
Chr21:46929991 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.3340C>T (p.Arg1114Trp) single nucleotide variant not provided [RCV001916954] Chr21:45509446 [GRCh38]
Chr21:46929360 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.3443C>T (p.Pro1148Leu) single nucleotide variant not provided [RCV001876643] Chr21:45509549 [GRCh38]
Chr21:46929463 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.3538C>T (p.Arg1180Trp) single nucleotide variant not provided [RCV002029889] Chr21:45510106 [GRCh38]
Chr21:46930020 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.2929G>A (p.Gly977Ser) single nucleotide variant Glaucoma, primary closed-angle [RCV002503520]|not provided [RCV001919823] Chr21:45505194 [GRCh38]
Chr21:46925108 [GRCh37]
Chr21:21q22.3
uncertain significance
NC_000021.8:g.(?_46929958)_(46936074_?)del deletion not provided [RCV001956055] Chr21:46929958..46936074 [GRCh37]
Chr21:21q22.3
pathogenic
NM_001379500.1(COL18A1):c.3033_3051del (p.Pro1012fs) deletion not provided [RCV001950862] Chr21:45505372..45505390 [GRCh38]
Chr21:46925286..46925304 [GRCh37]
Chr21:21q22.3
pathogenic
NM_001379500.1(COL18A1):c.3050C>T (p.Pro1017Leu) single nucleotide variant not provided [RCV002014712] Chr21:45505394 [GRCh38]
Chr21:46925308 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_194255.4(SLC19A1):c.790_810dup (p.Arg264_Trp270dup) duplication not provided [RCV002033079] Chr21:45531527..45531528 [GRCh38]
Chr21:46951441..46951442 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.3314G>T (p.Arg1105Leu) single nucleotide variant not provided [RCV001867810] Chr21:45509420 [GRCh38]
Chr21:46929334 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.2978_2987dup (p.Ser997fs) duplication not provided [RCV001994665] Chr21:45505235..45505236 [GRCh38]
Chr21:46925149..46925150 [GRCh37]
Chr21:21q22.3
pathogenic
NM_001379500.1(COL18A1):c.3599G>A (p.Gly1200Asp) single nucleotide variant not provided [RCV001881304] Chr21:45510167 [GRCh38]
Chr21:46930081 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.3482A>C (p.Asp1161Ala) single nucleotide variant not provided [RCV001952493] Chr21:45509588 [GRCh38]
Chr21:46929502 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_194255.4(SLC19A1):c.1108G>A (p.Val370Met) single nucleotide variant not provided [RCV002048814] Chr21:45530813 [GRCh38]
Chr21:46950727 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.3045del (p.Pro1018fs) deletion not provided [RCV001972315] Chr21:45505389 [GRCh38]
Chr21:46925303 [GRCh37]
Chr21:21q22.3
pathogenic
NM_001379500.1(COL18A1):c.3144G>T (p.Glu1048Asp) single nucleotide variant not provided [RCV001990665] Chr21:45505894 [GRCh38]
Chr21:46925808 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.2979del (p.Pro996fs) deletion not provided [RCV001972512] Chr21:45505244 [GRCh38]
Chr21:46925158 [GRCh37]
Chr21:21q22.3
pathogenic
NM_001379500.1(COL18A1):c.3781G>A (p.Gly1261Ser) single nucleotide variant not provided [RCV002050557] Chr21:45511198 [GRCh38]
Chr21:46931112 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.3017T>A (p.Ile1006Asn) single nucleotide variant not provided [RCV001993414] Chr21:45505361 [GRCh38]
Chr21:46925275 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.3058C>G (p.Pro1020Ala) single nucleotide variant not provided [RCV001922294] Chr21:45505402 [GRCh38]
Chr21:46925316 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.2768A>G (p.Glu923Gly) single nucleotide variant not provided [RCV002018159] Chr21:45504456 [GRCh38]
Chr21:46924370 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.2866C>T (p.Pro956Ser) single nucleotide variant not provided [RCV001989620] Chr21:45504554 [GRCh38]
Chr21:46924468 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.3950_*18del (p.Ser1317fs) deletion not provided [RCV002029398] Chr21:45512326..45512414 [GRCh38]
Chr21:46932240..46932328 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.3188G>A (p.Arg1063His) single nucleotide variant not provided [RCV001993631] Chr21:45505938 [GRCh38]
Chr21:46925852 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_194255.4(SLC19A1):c.1293+5G>C single nucleotide variant not provided [RCV002010302] Chr21:45525812 [GRCh38]
Chr21:46945726 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.3661G>A (p.Asp1221Asn) single nucleotide variant not provided [RCV002026944] Chr21:45510229 [GRCh38]
Chr21:46930143 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.3150G>A (p.Trp1050Ter) single nucleotide variant not provided [RCV001994646] Chr21:45505900 [GRCh38]
Chr21:46925814 [GRCh37]
Chr21:21q22.3
pathogenic
NM_001379500.1(COL18A1):c.2776dup (p.Glu926fs) duplication not provided [RCV001958503] Chr21:45504458..45504459 [GRCh38]
Chr21:46924372..46924373 [GRCh37]
Chr21:21q22.3
pathogenic
NM_001379500.1(COL18A1):c.3216+11dup duplication not provided [RCV001884438] Chr21:45505976..45505977 [GRCh38]
Chr21:46925890..46925891 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.3922C>G (p.Leu1308Val) single nucleotide variant not provided [RCV001992385] Chr21:45512300 [GRCh38]
Chr21:46932214 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.2719G>A (p.Glu907Lys) single nucleotide variant not provided [RCV001901857] Chr21:45504046 [GRCh38]
Chr21:46923960 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.2923C>A (p.Pro975Thr) single nucleotide variant not provided [RCV001923928] Chr21:45505188 [GRCh38]
Chr21:46925102 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_194255.4(SLC19A1):c.460G>A (p.Gly154Ser) single nucleotide variant not provided [RCV001917931] Chr21:45531878 [GRCh38]
Chr21:46951792 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.3446C>T (p.Ala1149Val) single nucleotide variant Glaucoma, primary closed-angle [RCV002486694]|not provided [RCV002014448] Chr21:45509552 [GRCh38]
Chr21:46929466 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.3906G>A (p.Thr1302=) single nucleotide variant not provided [RCV001995766] Chr21:45512284 [GRCh38]
Chr21:46932198 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.3796A>G (p.Arg1266Gly) single nucleotide variant not provided [RCV001997682] Chr21:45511213 [GRCh38]
Chr21:46931127 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.2821C>G (p.Pro941Ala) single nucleotide variant not provided [RCV001960375] Chr21:45504509 [GRCh38]
Chr21:46924423 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.3443C>A (p.Pro1148Gln) single nucleotide variant not provided [RCV001981261] Chr21:45509549 [GRCh38]
Chr21:46929463 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.3869_3871del (p.Tyr1290del) deletion not provided [RCV001916704] Chr21:45512245..45512247 [GRCh38]
Chr21:46932159..46932161 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.3653G>A (p.Arg1218His) single nucleotide variant not provided [RCV001918040] Chr21:45510221 [GRCh38]
Chr21:46930135 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.2958_2966dup (p.985GPP[5]) duplication not provided [RCV001886370] Chr21:45505217..45505218 [GRCh38]
Chr21:46925131..46925132 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.3823G>A (p.Val1275Met) single nucleotide variant not provided [RCV002014566] Chr21:45512201 [GRCh38]
Chr21:46932115 [GRCh37]
Chr21:21q22.3
uncertain significance
NC_000021.8:g.(?_44473990)_(47865240_?)dup duplication not provided [RCV002011965] Chr21:44473990..47865240 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.2958_2985del (p.Pro987fs) deletion not provided [RCV001931485] Chr21:45505214..45505241 [GRCh38]
Chr21:46925128..46925155 [GRCh37]
Chr21:21q22.3
pathogenic
NM_001379500.1(COL18A1):c.3035C>T (p.Pro1012Leu) single nucleotide variant not provided [RCV001866353] Chr21:45505379 [GRCh38]
Chr21:46925293 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.3311C>A (p.Pro1104Gln) single nucleotide variant not provided [RCV001934111] Chr21:45509417 [GRCh38]
Chr21:46929331 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.3701T>G (p.Leu1234Arg) single nucleotide variant not provided [RCV001978866] Chr21:45511118 [GRCh38]
Chr21:46931032 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.3337G>A (p.Ala1113Thr) single nucleotide variant not provided [RCV002016526] Chr21:45509443 [GRCh38]
Chr21:46929357 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.3481G>A (p.Asp1161Asn) single nucleotide variant not provided [RCV001988923] Chr21:45509587 [GRCh38]
Chr21:46929501 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.3314G>C (p.Arg1105Pro) single nucleotide variant not provided [RCV001878029] Chr21:45509420 [GRCh38]
Chr21:46929334 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.2935G>A (p.Gly979Ser) single nucleotide variant not provided [RCV001934297] Chr21:45505200 [GRCh38]
Chr21:46925114 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.3155T>C (p.Ile1052Thr) single nucleotide variant not provided [RCV001952362] Chr21:45505905 [GRCh38]
Chr21:46925819 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.3337G>C (p.Ala1113Pro) single nucleotide variant not provided [RCV001980878] Chr21:45509443 [GRCh38]
Chr21:46929357 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.2808C>G (p.Ser936Arg) single nucleotide variant not provided [RCV001885451] Chr21:45504496 [GRCh38]
Chr21:46924410 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.3338C>T (p.Ala1113Val) single nucleotide variant not provided [RCV001876982] Chr21:45509444 [GRCh38]
Chr21:46929358 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.3904A>G (p.Thr1302Ala) single nucleotide variant not provided [RCV001976067] Chr21:45512282 [GRCh38]
Chr21:46932196 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_194255.4(SLC19A1):c.971C>T (p.Ala324Val) single nucleotide variant not provided [RCV001866737] Chr21:45530950 [GRCh38]
Chr21:46950864 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_194255.4(SLC19A1):c.944_947dup (p.Gly317fs) duplication not provided [RCV001923655] Chr21:45531390..45531391 [GRCh38]
Chr21:46951304..46951305 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_194255.4(SLC19A1):c.1405G>T (p.Ala469Ser) single nucleotide variant not provided [RCV001906727] Chr21:45516029 [GRCh38]
Chr21:46935943 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.3955G>A (p.Ala1319Thr) single nucleotide variant not provided [RCV002047685] Chr21:45512333 [GRCh38]
Chr21:46932247 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.2799C>A (p.Phe933Leu) single nucleotide variant not provided [RCV002030360] Chr21:45504487 [GRCh38]
Chr21:46924401 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.3301A>G (p.Asn1101Asp) single nucleotide variant not provided [RCV001923693] Chr21:45509407 [GRCh38]
Chr21:46929321 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.3536T>C (p.Met1179Thr) single nucleotide variant not provided [RCV001998018] Chr21:45510104 [GRCh38]
Chr21:46930018 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.3280G>A (p.Val1094Met) single nucleotide variant not provided [RCV001878449] Chr21:45509386 [GRCh38]
Chr21:46929300 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.3036_3044del (p.1011PPG[3]) deletion not provided [RCV001922110] Chr21:45505378..45505386 [GRCh38]
Chr21:46925292..46925300 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.3326_3328del (p.Pro1109del) deletion not provided [RCV001957339] Chr21:45509430..45509432 [GRCh38]
Chr21:46929344..46929346 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.2800G>A (p.Gly934Ser) single nucleotide variant not provided [RCV001960176] Chr21:45504488 [GRCh38]
Chr21:46924402 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.3106C>T (p.Arg1036Cys) single nucleotide variant not provided [RCV001923206] Chr21:45505856 [GRCh38]
Chr21:46925770 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.2717C>T (p.Ala906Val) single nucleotide variant not provided [RCV001881150] Chr21:45504044 [GRCh38]
Chr21:46923958 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.3790G>A (p.Val1264Ile) single nucleotide variant not provided [RCV001957459] Chr21:45511207 [GRCh38]
Chr21:46931121 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.3206_3216+702del deletion not provided [RCV002046650] Chr21:45505953..45506665 [GRCh38]
Chr21:46925867..46926579 [GRCh37]
Chr21:21q22.3
likely pathogenic
NM_001379500.1(COL18A1):c.3048dup (p.Pro1017fs) duplication not provided [RCV001993363] Chr21:45505389..45505390 [GRCh38]
Chr21:46925303..46925304 [GRCh37]
Chr21:21q22.3
pathogenic
NM_001379500.1(COL18A1):c.3862G>A (p.Glu1288Lys) single nucleotide variant not provided [RCV001939052] Chr21:45512240 [GRCh38]
Chr21:46932154 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.3088-6C>T single nucleotide variant not provided [RCV001997284] Chr21:45505832 [GRCh38]
Chr21:46925746 [GRCh37]
Chr21:21q22.3
likely benign
NM_001379500.1(COL18A1):c.3250-9C>G single nucleotide variant not provided [RCV001924542] Chr21:45509347 [GRCh38]
Chr21:46929261 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.3626G>A (p.Arg1209His) single nucleotide variant not provided [RCV002019081] Chr21:45510194 [GRCh38]
Chr21:46930108 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.4003A>G (p.Met1335Val) single nucleotide variant not provided [RCV002017365] Chr21:45512381 [GRCh38]
Chr21:46932295 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.3686A>C (p.Asn1229Thr) single nucleotide variant not provided [RCV001884441] Chr21:45510254 [GRCh38]
Chr21:46930168 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.3693+5_3693+25del deletion not provided [RCV001961248] Chr21:45510265..45510285 [GRCh38]
Chr21:46930179..46930199 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.2767G>A (p.Glu923Lys) single nucleotide variant not provided [RCV001879034] Chr21:45504455 [GRCh38]
Chr21:46924369 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.3044_3062del (p.Pro1015fs) deletion not provided [RCV001951891] Chr21:45505380..45505398 [GRCh38]
Chr21:46925294..46925312 [GRCh37]
Chr21:21q22.3
pathogenic
NM_001379500.1(COL18A1):c.2752G>A (p.Ala918Thr) single nucleotide variant not provided [RCV001933929] Chr21:45504440 [GRCh38]
Chr21:46924354 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.3578C>T (p.Ala1193Val) single nucleotide variant not provided [RCV002050435] Chr21:45510146 [GRCh38]
Chr21:46930060 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.2744G>A (p.Arg915Gln) single nucleotide variant not provided [RCV001955433] Chr21:45504432 [GRCh38]
Chr21:46924346 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.3216+19G>A single nucleotide variant not provided [RCV001919482] Chr21:45505985 [GRCh38]
Chr21:46925899 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.3200G>A (p.Gly1067Glu) single nucleotide variant not provided [RCV001934107] Chr21:45505950 [GRCh38]
Chr21:46925864 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.2774G>A (p.Gly925Glu) single nucleotide variant not provided [RCV001881166] Chr21:45504462 [GRCh38]
Chr21:46924376 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.3279del (p.Val1094fs) deletion not provided [RCV001915929] Chr21:45509380 [GRCh38]
Chr21:46929294 [GRCh37]
Chr21:21q22.3
pathogenic
NM_001379500.1(COL18A1):c.3810-3C>T single nucleotide variant not provided [RCV001922721] Chr21:45512185 [GRCh38]
Chr21:46932099 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.3761C>T (p.Ala1254Val) single nucleotide variant Glaucoma, primary closed-angle [RCV002478116]|not provided [RCV001866453] Chr21:45511178 [GRCh38]
Chr21:46931092 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.3845A>T (p.Asn1282Ile) single nucleotide variant not provided [RCV002015231] Chr21:45512223 [GRCh38]
Chr21:46932137 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_194255.4(SLC19A1):c.1265G>A (p.Arg422Gln) single nucleotide variant not provided [RCV001972310] Chr21:45525845 [GRCh38]
Chr21:46945759 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.3536T>G (p.Met1179Arg) single nucleotide variant not provided [RCV001974207] Chr21:45510104 [GRCh38]
Chr21:46930018 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.3835T>G (p.Ser1279Ala) single nucleotide variant not provided [RCV002048168] Chr21:45512213 [GRCh38]
Chr21:46932127 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.2907_2966del (p.Gln973_Pro992del) deletion not provided [RCV001878500] Chr21:45505164..45505223 [GRCh38]
Chr21:46925078..46925137 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.3597G>A (p.Ala1199=) single nucleotide variant not provided [RCV001954092] Chr21:45510165 [GRCh38]
Chr21:46930079 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.2942A>G (p.Glu981Gly) single nucleotide variant not provided [RCV001919902] Chr21:45505207 [GRCh38]
Chr21:46925121 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.3166G>A (p.Glu1056Lys) single nucleotide variant not provided [RCV002014632] Chr21:45505916 [GRCh38]
Chr21:46925830 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.3199G>A (p.Gly1067Arg) single nucleotide variant not provided [RCV001904644] Chr21:45505949 [GRCh38]
Chr21:46925863 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_030582.4(COL18A1):c.3371_3379del (p.1118PGP[2]) deletion not provided [RCV001988770] Chr21:45504527..45504535 [GRCh38]
Chr21:46924441..46924449 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.3932G>A (p.Gly1311Asp) single nucleotide variant not provided [RCV002011049] Chr21:45512310 [GRCh38]
Chr21:46932224 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.3232C>G (p.Pro1078Ala) single nucleotide variant not provided [RCV002013771] Chr21:45507576 [GRCh38]
Chr21:46927490 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.3073G>A (p.Gly1025Ser) single nucleotide variant not provided [RCV001952609] Chr21:45505417 [GRCh38]
Chr21:46925331 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.2853C>T (p.Gly951=) single nucleotide variant not provided [RCV002169493] Chr21:45504541 [GRCh38]
Chr21:46924455 [GRCh37]
Chr21:21q22.3
likely benign
NM_001379500.1(COL18A1):c.2793T>C (p.Gly931=) single nucleotide variant not provided [RCV002092859] Chr21:45504481 [GRCh38]
Chr21:46924395 [GRCh37]
Chr21:21q22.3
likely benign
NM_001379500.1(COL18A1):c.3900G>A (p.Ser1300=) single nucleotide variant not provided [RCV002085672] Chr21:45512278 [GRCh38]
Chr21:46932192 [GRCh37]
Chr21:21q22.3
likely benign
NM_001379500.1(COL18A1):c.3921G>A (p.Ser1307=) single nucleotide variant not provided [RCV002107111] Chr21:45512299 [GRCh38]
Chr21:46932213 [GRCh37]
Chr21:21q22.3
likely benign
NM_001379500.1(COL18A1):c.3694-7C>A single nucleotide variant not provided [RCV002109984] Chr21:45511104 [GRCh38]
Chr21:46931018 [GRCh37]
Chr21:21q22.3
likely benign
NM_001379500.1(COL18A1):c.3246G>C (p.Gly1082=) single nucleotide variant not provided [RCV002209222] Chr21:45507590 [GRCh38]
Chr21:46927504 [GRCh37]
Chr21:21q22.3
likely benign
NM_001379500.1(COL18A1):c.3549C>T (p.Arg1183=) single nucleotide variant not provided [RCV002186334] Chr21:45510117 [GRCh38]
Chr21:46930031 [GRCh37]
Chr21:21q22.3
likely benign
NM_001379500.1(COL18A1):c.3333C>T (p.Pro1111=) single nucleotide variant not provided [RCV002126817] Chr21:45509439 [GRCh38]
Chr21:46929353 [GRCh37]
Chr21:21q22.3
likely benign
NM_001379500.1(COL18A1):c.3349C>A (p.Arg1117=) single nucleotide variant not provided [RCV002090696] Chr21:45509455 [GRCh38]
Chr21:46929369 [GRCh37]
Chr21:21q22.3
likely benign
NM_001379500.1(COL18A1):c.3903C>A (p.Ala1301=) single nucleotide variant not provided [RCV002186304] Chr21:45512281 [GRCh38]
Chr21:46932195 [GRCh37]
Chr21:21q22.3
likely benign
NM_001379500.1(COL18A1):c.2832A>G (p.Pro944=) single nucleotide variant not provided [RCV002189391] Chr21:45504520 [GRCh38]
Chr21:46924434 [GRCh37]
Chr21:21q22.3
likely benign
NM_001379500.1(COL18A1):c.3851G>A (p.Arg1284His) single nucleotide variant not provided [RCV002127372] Chr21:45512229 [GRCh38]
Chr21:46932143 [GRCh37]
Chr21:21q22.3
benign
NM_001379500.1(COL18A1):c.3531C>T (p.Gly1177=) single nucleotide variant not provided [RCV002124943] Chr21:45510099 [GRCh38]
Chr21:46930013 [GRCh37]
Chr21:21q22.3
benign
NM_001379500.1(COL18A1):c.3249+16dup duplication not provided [RCV002124753] Chr21:45507603..45507604 [GRCh38]
Chr21:46927517..46927518 [GRCh37]
Chr21:21q22.3
benign
NM_194255.4(SLC19A1):c.1116C>T (p.Phe372=) single nucleotide variant not provided [RCV002167031] Chr21:45530805 [GRCh38]
Chr21:46950719 [GRCh37]
Chr21:21q22.3
likely benign
NM_001379500.1(COL18A1):c.3531C>A (p.Gly1177=) single nucleotide variant not provided [RCV002191301] Chr21:45510099 [GRCh38]
Chr21:46930013 [GRCh37]
Chr21:21q22.3
likely benign
NM_001379500.1(COL18A1):c.2684-15G>C single nucleotide variant not provided [RCV002191305] Chr21:45503996 [GRCh38]
Chr21:46923910 [GRCh37]
Chr21:21q22.3
likely benign
NM_001379500.1(COL18A1):c.3693+16C>T single nucleotide variant not provided [RCV002190199] Chr21:45510277 [GRCh38]
Chr21:46930191 [GRCh37]
Chr21:21q22.3
likely benign
NM_194255.4(SLC19A1):c.696T>C (p.Pro232=) single nucleotide variant not provided [RCV002125005] Chr21:45531642 [GRCh38]
Chr21:46951556 [GRCh37]
Chr21:21q22.3
benign
NM_001379500.1(COL18A1):c.3809+14G>A single nucleotide variant not provided [RCV002087931] Chr21:45511240 [GRCh38]
Chr21:46931154 [GRCh37]
Chr21:21q22.3
likely benign
NM_001379500.1(COL18A1):c.3810-10C>T single nucleotide variant not provided [RCV002075368] Chr21:45512178 [GRCh38]
Chr21:46932092 [GRCh37]
Chr21:21q22.3
likely benign
NM_001379500.1(COL18A1):c.2997T>C (p.Pro999=) single nucleotide variant not provided [RCV002091501] Chr21:45505262 [GRCh38]
Chr21:46925176 [GRCh37]
Chr21:21q22.3
likely benign
NM_001379500.1(COL18A1):c.2868+15G>A single nucleotide variant not provided [RCV002148622] Chr21:45504571 [GRCh38]
Chr21:46924485 [GRCh37]
Chr21:21q22.3
likely benign
NM_001379500.1(COL18A1):c.3711C>T (p.Pro1237=) single nucleotide variant not provided [RCV002148212] Chr21:45511128 [GRCh38]
Chr21:46931042 [GRCh37]
Chr21:21q22.3
likely benign
NM_001379500.1(COL18A1):c.3255T>C (p.Asn1085=) single nucleotide variant not provided [RCV002188602] Chr21:45509361 [GRCh38]
Chr21:46929275 [GRCh37]
Chr21:21q22.3
likely benign
NM_001379500.1(COL18A1):c.3809+11dup duplication not provided [RCV002075142] Chr21:45511236..45511237 [GRCh38]
Chr21:46931150..46931151 [GRCh37]
Chr21:21q22.3
likely benign
NM_001379500.1(COL18A1):c.3852C>G (p.Arg1284=) single nucleotide variant not provided [RCV002185629] Chr21:45512230 [GRCh38]
Chr21:46932144 [GRCh37]
Chr21:21q22.3
likely benign
NM_194255.4(SLC19A1):c.1473C>T (p.Leu491=) single nucleotide variant not provided [RCV002165082] Chr21:45515961 [GRCh38]
Chr21:46935875 [GRCh37]
Chr21:21q22.3
likely benign
NM_001379500.1(COL18A1):c.2901C>T (p.Pro967=) single nucleotide variant not provided [RCV002126851] Chr21:45505166 [GRCh38]
Chr21:46925080 [GRCh37]
Chr21:21q22.3
likely benign
NM_001379500.1(COL18A1):c.3013+13G>C single nucleotide variant not provided [RCV002128428] Chr21:45505291 [GRCh38]
Chr21:46925205 [GRCh37]
Chr21:21q22.3
likely benign
NM_001379500.1(COL18A1):c.3771C>T (p.Phe1257=) single nucleotide variant not provided [RCV002088843] Chr21:45511188 [GRCh38]
Chr21:46931102 [GRCh37]
Chr21:21q22.3
likely benign
NM_001379500.1(COL18A1):c.3216+10C>G single nucleotide variant not provided [RCV002075808] Chr21:45505976 [GRCh38]
Chr21:46925890 [GRCh37]
Chr21:21q22.3
likely benign
NM_001379500.1(COL18A1):c.3372C>T (p.Ser1124=) single nucleotide variant not provided [RCV002128365] Chr21:45509478 [GRCh38]
Chr21:46929392 [GRCh37]
Chr21:21q22.3
likely benign
NM_001379500.1(COL18A1):c.3217-13T>C single nucleotide variant not provided [RCV002168067] Chr21:45507548 [GRCh38]
Chr21:46927462 [GRCh37]
Chr21:21q22.3
likely benign
NM_194255.4(SLC19A1):c.1536G>A (p.Gly512=) single nucleotide variant not provided [RCV002105703] Chr21:45515898 [GRCh38]
Chr21:46935812 [GRCh37]
Chr21:21q22.3
likely benign
NM_001379500.1(COL18A1):c.3087+14C>T single nucleotide variant not provided [RCV002170109] Chr21:45505445 [GRCh38]
Chr21:46925359 [GRCh37]
Chr21:21q22.3
likely benign
NM_001379500.1(COL18A1):c.3694-15C>T single nucleotide variant not provided [RCV002188145] Chr21:45511096 [GRCh38]
Chr21:46931010 [GRCh37]
Chr21:21q22.3
likely benign
NM_001379500.1(COL18A1):c.2727+7G>T single nucleotide variant not provided [RCV002108742] Chr21:45504061 [GRCh38]
Chr21:46923975 [GRCh37]
Chr21:21q22.3
likely benign
NM_001379500.1(COL18A1):c.2973C>G (p.Gly991=) single nucleotide variant not provided [RCV002147034] Chr21:45505238 [GRCh38]
Chr21:46925152 [GRCh37]
Chr21:21q22.3
likely benign
NM_001379500.1(COL18A1):c.3861C>A (p.Thr1287=) single nucleotide variant not provided [RCV002206531] Chr21:45512239 [GRCh38]
Chr21:46932153 [GRCh37]
Chr21:21q22.3
likely benign
NM_001379500.1(COL18A1):c.2684-11C>G single nucleotide variant not provided [RCV002189624] Chr21:45504000 [GRCh38]
Chr21:46923914 [GRCh37]
Chr21:21q22.3
likely benign
NM_001379500.1(COL18A1):c.3495+14dup duplication not provided [RCV002127286] Chr21:45509608..45509609 [GRCh38]
Chr21:46929522..46929523 [GRCh37]
Chr21:21q22.3
benign
NM_001379500.1(COL18A1):c.3303C>T (p.Asn1101=) single nucleotide variant not provided [RCV002072437] Chr21:45509409 [GRCh38]
Chr21:46929323 [GRCh37]
Chr21:21q22.3
likely benign
NM_001379500.1(COL18A1):c.3354A>G (p.Ala1118=) single nucleotide variant not provided [RCV002188234] Chr21:45509460 [GRCh38]
Chr21:46929374 [GRCh37]
Chr21:21q22.3
likely benign
NM_001379500.1(COL18A1):c.3495+13C>T single nucleotide variant not provided [RCV002190737] Chr21:45509614 [GRCh38]
Chr21:46929528 [GRCh37]
Chr21:21q22.3
likely benign
NM_001379500.1(COL18A1):c.3159C>T (p.Phe1053=) single nucleotide variant not provided [RCV002189588] Chr21:45505909 [GRCh38]
Chr21:46925823 [GRCh37]
Chr21:21q22.3
likely benign
NM_001379500.1(COL18A1):c.2883G>A (p.Glu961=) single nucleotide variant not provided [RCV002147228] Chr21:45505148 [GRCh38]
Chr21:46925062 [GRCh37]
Chr21:21q22.3
likely benign
NM_001379500.1(COL18A1):c.3435C>T (p.His1145=) single nucleotide variant not provided [RCV002110748] Chr21:45509541 [GRCh38]
Chr21:46929455 [GRCh37]
Chr21:21q22.3
likely benign
NM_001379500.1(COL18A1):c.2868+15G>C single nucleotide variant not provided [RCV002089813] Chr21:45504571 [GRCh38]
Chr21:46924485 [GRCh37]
Chr21:21q22.3
likely benign
NM_001379500.1(COL18A1):c.3021C>T (p.Ser1007=) single nucleotide variant not provided [RCV002107942] Chr21:45505365 [GRCh38]
Chr21:46925279 [GRCh37]
Chr21:21q22.3
likely benign
NM_194255.4(SLC19A1):c.966C>T (p.Phe322=) single nucleotide variant not provided [RCV002091457] Chr21:45530955 [GRCh38]
Chr21:46950869 [GRCh37]
Chr21:21q22.3
likely benign
NM_001379500.1(COL18A1):c.3822C>T (p.Ser1274=) single nucleotide variant not provided [RCV002107235] Chr21:45512200 [GRCh38]
Chr21:46932114 [GRCh37]
Chr21:21q22.3
likely benign
NM_001379500.1(COL18A1):c.2869-19C>T single nucleotide variant not provided [RCV002148632] Chr21:45505115 [GRCh38]
Chr21:46925029 [GRCh37]
Chr21:21q22.3
likely benign
NM_194255.4(SLC19A1):c.1250T>C (p.Ile417Thr) single nucleotide variant not provided [RCV002207663] Chr21:45525860 [GRCh38]
Chr21:46945774 [GRCh37]
Chr21:21q22.3
benign
NM_001379500.1(COL18A1):c.2869-15T>C single nucleotide variant not provided [RCV002090176] Chr21:45505119 [GRCh38]
Chr21:46925033 [GRCh37]
Chr21:21q22.3
likely benign
NM_001379500.1(COL18A1):c.3999C>T (p.Ser1333=) single nucleotide variant not provided [RCV002087274] Chr21:45512377 [GRCh38]
Chr21:46932291 [GRCh37]
Chr21:21q22.3
likely benign
NM_001379500.1(COL18A1):c.3447_3448delinsAA (p.Ala1149_Arg1150=) indel not provided [RCV002174759] Chr21:45509553..45509554 [GRCh38]
Chr21:46929467..46929468 [GRCh37]
Chr21:21q22.3
likely benign
NM_001379500.1(COL18A1):c.3264C>T (p.Ala1088=) single nucleotide variant not provided [RCV002089262] Chr21:45509370 [GRCh38]
Chr21:46929284 [GRCh37]
Chr21:21q22.3
benign
NM_001379500.1(COL18A1):c.3555C>T (p.Ala1185=) single nucleotide variant not provided [RCV002172356] Chr21:45510123 [GRCh38]
Chr21:46930037 [GRCh37]
Chr21:21q22.3
likely benign
NM_001379500.1(COL18A1):c.2826C>T (p.Gly942=) single nucleotide variant not provided [RCV002195800] Chr21:45504523 [GRCh38]
Chr21:46924437 [GRCh37]
Chr21:21q22.3
likely benign
NM_001379500.1(COL18A1):c.3496-4G>A single nucleotide variant not provided [RCV002078350] Chr21:45510060 [GRCh38]
Chr21:46929974 [GRCh37]
Chr21:21q22.3
likely benign
NM_001379500.1(COL18A1):c.2892G>A (p.Arg964=) single nucleotide variant not provided [RCV002215978] Chr21:45505157 [GRCh38]
Chr21:46925071 [GRCh37]
Chr21:21q22.3
likely benign
NM_001379500.1(COL18A1):c.2886C>T (p.Ser962=) single nucleotide variant not provided [RCV002114762] Chr21:45505151 [GRCh38]
Chr21:46925065 [GRCh37]
Chr21:21q22.3
likely benign
NM_001379500.1(COL18A1):c.3141C>T (p.Pro1047=) single nucleotide variant not provided [RCV002076591] Chr21:45505891 [GRCh38]
Chr21:46925805 [GRCh37]
Chr21:21q22.3
likely benign
NM_001379500.1(COL18A1):c.3087+18C>T single nucleotide variant not provided [RCV002134504] Chr21:45505449 [GRCh38]
Chr21:46925363 [GRCh37]
Chr21:21q22.3
likely benign
NM_001379500.1(COL18A1):c.3570C>T (p.Phe1190=) single nucleotide variant not provided [RCV002196291] Chr21:45510138 [GRCh38]
Chr21:46930052 [GRCh37]
Chr21:21q22.3
likely benign
NM_001379500.1(COL18A1):c.3216+12G>C single nucleotide variant not provided [RCV002196303] Chr21:45505978 [GRCh38]
Chr21:46925892 [GRCh37]
Chr21:21q22.3
likely benign
NM_001379500.1(COL18A1):c.2976C>G (p.Pro992=) single nucleotide variant not provided [RCV002092724] Chr21:45505241 [GRCh38]
Chr21:46925155 [GRCh37]
Chr21:21q22.3
likely benign
NM_001379500.1(COL18A1):c.3216+13T>C single nucleotide variant not provided [RCV002194777] Chr21:45505979 [GRCh38]
Chr21:46925893 [GRCh37]
Chr21:21q22.3
likely benign
NM_001379500.1(COL18A1):c.3216+7G>C single nucleotide variant not provided [RCV002209978] Chr21:45505973 [GRCh38]
Chr21:46925887 [GRCh37]
Chr21:21q22.3
likely benign
NM_001379500.1(COL18A1):c.3048G>A (p.Gly1016=) single nucleotide variant not provided [RCV002191841] Chr21:45505392 [GRCh38]
Chr21:46925306 [GRCh37]
Chr21:21q22.3
likely benign
NM_001379500.1(COL18A1):c.3585C>G (p.Ala1195=) single nucleotide variant not provided [RCV002091672] Chr21:45510153 [GRCh38]
Chr21:46930067 [GRCh37]
Chr21:21q22.3
likely benign
NM_001379500.1(COL18A1):c.3187C>T (p.Arg1063Cys) single nucleotide variant not provided [RCV002097263] Chr21:45505937 [GRCh38]
Chr21:46925851 [GRCh37]
Chr21:21q22.3
likely benign
NM_001379500.1(COL18A1):c.3624G>A (p.Ser1208=) single nucleotide variant not provided [RCV002116124] Chr21:45510192 [GRCh38]
Chr21:46930106 [GRCh37]
Chr21:21q22.3
benign
NM_001379500.1(COL18A1):c.2869-11G>A single nucleotide variant Glaucoma, primary closed-angle [RCV002500245]|not provided [RCV002135204] Chr21:45505123 [GRCh38]
Chr21:46925037 [GRCh37]
Chr21:21q22.3
likely benign
NM_001379500.1(COL18A1):c.2869-12C>T single nucleotide variant not provided [RCV002208338] Chr21:45505122 [GRCh38]
Chr21:46925036 [GRCh37]
Chr21:21q22.3
likely benign
NM_001379500.1(COL18A1):c.3624G>C (p.Ser1208=) single nucleotide variant not provided [RCV002212745] Chr21:45510192 [GRCh38]
Chr21:46930106 [GRCh37]
Chr21:21q22.3
likely benign
NM_001379500.1(COL18A1):c.3900G>C (p.Ser1300=) single nucleotide variant not provided [RCV002172821] Chr21:45512278 [GRCh38]
Chr21:46932192 [GRCh37]
Chr21:21q22.3
likely benign
NM_194255.4(SLC19A1):c.1497C>T (p.Ser499=) single nucleotide variant not provided [RCV002134134] Chr21:45515937 [GRCh38]
Chr21:46935851 [GRCh37]
Chr21:21q22.3
likely benign
NM_001379500.1(COL18A1):c.2772G>A (p.Arg924=) single nucleotide variant not provided [RCV002171503] Chr21:45504460 [GRCh38]
Chr21:46924374 [GRCh37]
Chr21:21q22.3
likely benign
NM_001379500.1(COL18A1):c.2817C>T (p.Gly939=) single nucleotide variant not provided [RCV002126693] Chr21:45504505 [GRCh38]
Chr21:46924419 [GRCh37]
Chr21:21q22.3
likely benign
NM_001379500.1(COL18A1):c.3656G>A (p.Arg1219His) single nucleotide variant not provided [RCV002115207] Chr21:45510224 [GRCh38]
Chr21:46930138 [GRCh37]
Chr21:21q22.3
likely benign
NM_001379500.1(COL18A1):c.2985C>T (p.Pro995=) single nucleotide variant not provided [RCV002130191] Chr21:45505250 [GRCh38]
Chr21:46925164 [GRCh37]
Chr21:21q22.3
likely benign
NM_001379500.1(COL18A1):c.3027C>T (p.Pro1009=) single nucleotide variant not provided [RCV002112151] Chr21:45505371 [GRCh38]
Chr21:46925285 [GRCh37]
Chr21:21q22.3
likely benign
NM_001379500.1(COL18A1):c.3339G>A (p.Ala1113=) single nucleotide variant not provided [RCV002134185] Chr21:45509445 [GRCh38]
Chr21:46929359 [GRCh37]
Chr21:21q22.3
likely benign
NM_001379500.1(COL18A1):c.2832A>T (p.Pro944=) single nucleotide variant not provided [RCV002134195] Chr21:45504520 [GRCh38]
Chr21:46924434 [GRCh37]
Chr21:21q22.3
likely benign
NM_001379500.1(COL18A1):c.2728-8G>T single nucleotide variant not provided [RCV002116262] Chr21:45504408 [GRCh38]
Chr21:46924322 [GRCh37]
Chr21:21q22.3
likely benign
NM_001379500.1(COL18A1):c.3402C>T (p.Tyr1134=) single nucleotide variant not provided [RCV002213756] Chr21:45509508 [GRCh38]
Chr21:46929422 [GRCh37]
Chr21:21q22.3
likely benign
NM_001379500.1(COL18A1):c.3465C>T (p.Pro1155=) single nucleotide variant not provided [RCV002077553] Chr21:45509571 [GRCh38]
Chr21:46929485 [GRCh37]
Chr21:21q22.3
likely benign
NM_001379500.1(COL18A1):c.3495+12C>A single nucleotide variant not provided [RCV002172197] Chr21:45509613 [GRCh38]
Chr21:46929527 [GRCh37]
Chr21:21q22.3
likely benign
NM_001379500.1(COL18A1):c.3648C>A (p.Ile1216=) single nucleotide variant not provided [RCV002152692] Chr21:45510216 [GRCh38]
Chr21:46930130 [GRCh37]
Chr21:21q22.3
likely benign
NM_001379500.1(COL18A1):c.3903C>G (p.Ala1301=) single nucleotide variant not provided [RCV002186919] Chr21:45512281 [GRCh38]
Chr21:46932195 [GRCh37]
Chr21:21q22.3
likely benign
NM_001379500.1(COL18A1):c.3702G>A (p.Leu1234=) single nucleotide variant not provided [RCV002086606] Chr21:45511119 [GRCh38]
Chr21:46931033 [GRCh37]
Chr21:21q22.3
likely benign
NM_001379500.1(COL18A1):c.3479G>A (p.Arg1160His) single nucleotide variant not provided [RCV002093562] Chr21:45509585 [GRCh38]
Chr21:46929499 [GRCh37]
Chr21:21q22.3
likely benign
NM_001379500.1(COL18A1):c.3603C>T (p.Thr1201=) single nucleotide variant not provided [RCV002093604] Chr21:45510171 [GRCh38]
Chr21:46930085 [GRCh37]
Chr21:21q22.3
likely benign
NM_001379500.1(COL18A1):c.2869-8G>T single nucleotide variant not provided [RCV002171696] Chr21:45505126 [GRCh38]
Chr21:46925040 [GRCh37]
Chr21:21q22.3
likely benign
NM_001379500.1(COL18A1):c.3861C>T (p.Thr1287=) single nucleotide variant not provided [RCV002133728] Chr21:45512239 [GRCh38]
Chr21:46932153 [GRCh37]
Chr21:21q22.3
likely benign
NM_001379500.1(COL18A1):c.3414G>A (p.Pro1138=) single nucleotide variant not provided [RCV002192838] Chr21:45509520 [GRCh38]
Chr21:46929434 [GRCh37]
Chr21:21q22.3
likely benign
NM_001379500.1(COL18A1):c.3087+19G>A single nucleotide variant not provided [RCV002149087] Chr21:45505450 [GRCh38]
Chr21:46925364 [GRCh37]
Chr21:21q22.3
likely benign
NM_001379500.1(COL18A1):c.3453C>T (p.Pro1151=) single nucleotide variant not provided [RCV002213961] Chr21:45509559 [GRCh38]
Chr21:46929473 [GRCh37]
Chr21:21q22.3
likely benign
NM_001379500.1(COL18A1):c.3960C>T (p.Ser1320=) single nucleotide variant not provided [RCV002151049] Chr21:45512338 [GRCh38]
Chr21:46932252 [GRCh37]
Chr21:21q22.3
likely benign
NM_001379500.1(COL18A1):c.3696C>T (p.Asp1232=) single nucleotide variant not provided [RCV002134241] Chr21:45511113 [GRCh38]
Chr21:46931027 [GRCh37]
Chr21:21q22.3
likely benign
NM_001379500.1(COL18A1):c.3126G>A (p.Gln1042=) single nucleotide variant not provided [RCV002085159] Chr21:45505876 [GRCh38]
Chr21:46925790 [GRCh37]
Chr21:21q22.3
likely benign
NM_194255.4(SLC19A1):c.261C>T (p.Thr87=) single nucleotide variant not provided [RCV002209782] Chr21:45532077 [GRCh38]
Chr21:46951991 [GRCh37]
Chr21:21q22.3
benign
NM_194255.4(SLC19A1):c.1531G>T (p.Val511Leu) single nucleotide variant not provided [RCV002133592] Chr21:45515903 [GRCh38]
Chr21:46935817 [GRCh37]
Chr21:21q22.3
likely benign
NM_001379500.1(COL18A1):c.3420C>T (p.His1140=) single nucleotide variant not provided [RCV002193710] Chr21:45509526 [GRCh38]
Chr21:46929440 [GRCh37]
Chr21:21q22.3
likely benign
NM_001379500.1(COL18A1):c.2973C>T (p.Gly991=) single nucleotide variant not provided [RCV002093617] Chr21:45505238 [GRCh38]
Chr21:46925152 [GRCh37]
Chr21:21q22.3
likely benign
NM_001379500.1(COL18A1):c.3088-18T>C single nucleotide variant not provided [RCV002173227] Chr21:45505820 [GRCh38]
Chr21:46925734 [GRCh37]
Chr21:21q22.3
likely benign
NM_001379500.1(COL18A1):c.3336C>T (p.Thr1112=) single nucleotide variant Glaucoma, primary closed-angle [RCV002486987]|not provided [RCV002193252] Chr21:45509442 [GRCh38]
Chr21:46929356 [GRCh37]
Chr21:21q22.3
likely benign
NM_001379500.1(COL18A1):c.3585C>T (p.Ala1195=) single nucleotide variant not provided [RCV002114456] Chr21:45510153 [GRCh38]
Chr21:46930067 [GRCh37]
Chr21:21q22.3
likely benign
NM_001379500.1(COL18A1):c.3189C>T (p.Arg1063=) single nucleotide variant not provided [RCV002151326] Chr21:45505939 [GRCh38]
Chr21:46925853 [GRCh37]
Chr21:21q22.3
likely benign
NM_001379500.1(COL18A1):c.3789C>T (p.Asp1263=) single nucleotide variant not provided [RCV002151982] Chr21:45511206 [GRCh38]
Chr21:46931120 [GRCh37]
Chr21:21q22.3
likely benign
NM_001379500.1(COL18A1):c.2728-9C>T single nucleotide variant not provided [RCV002173820] Chr21:45504407 [GRCh38]
Chr21:46924321 [GRCh37]
Chr21:21q22.3
likely benign
NM_194255.4(SLC19A1):c.1413C>A (p.Gly471=) single nucleotide variant not provided [RCV002196314] Chr21:45516021 [GRCh38]
Chr21:46935935 [GRCh37]
Chr21:21q22.3
likely benign
NM_001379500.1(COL18A1):c.2868+12C>A single nucleotide variant not provided [RCV002075750] Chr21:45504568 [GRCh38]
Chr21:46924482 [GRCh37]
Chr21:21q22.3
likely benign
NM_001379500.1(COL18A1):c.2880A>G (p.Gly960=) single nucleotide variant not provided [RCV002112211] Chr21:45505145 [GRCh38]
Chr21:46925059 [GRCh37]
Chr21:21q22.3
likely benign
NM_001379500.1(COL18A1):c.2979_2987dup (p.985GPP[5]) duplication not provided [RCV002195863] Chr21:45505238..45505239 [GRCh38]
Chr21:46925152..46925153 [GRCh37]
Chr21:21q22.3
likely benign
NM_001379500.1(COL18A1):c.3846C>T (p.Asn1282=) single nucleotide variant not provided [RCV002150119] Chr21:45512224 [GRCh38]
Chr21:46932138 [GRCh37]
Chr21:21q22.3
likely benign
NM_001379500.1(COL18A1):c.3249+15T>C single nucleotide variant not provided [RCV002134735] Chr21:45507608 [GRCh38]
Chr21:46927522 [GRCh37]
Chr21:21q22.3
likely benign
NM_001379500.1(COL18A1):c.3810-14G>A single nucleotide variant not provided [RCV002134094] Chr21:45512174 [GRCh38]
Chr21:46932088 [GRCh37]
Chr21:21q22.3
likely benign
NM_001379500.1(COL18A1):c.2728-15T>C single nucleotide variant not provided [RCV002212025] Chr21:45504401 [GRCh38]
Chr21:46924315 [GRCh37]
Chr21:21q22.3
likely benign
NM_001379500.1(COL18A1):c.2684-20C>T single nucleotide variant not provided [RCV002131855] Chr21:45503991 [GRCh38]
Chr21:46923905 [GRCh37]
Chr21:21q22.3
likely benign
NM_001379500.1(COL18A1):c.3312G>A (p.Pro1104=) single nucleotide variant not provided [RCV002219933] Chr21:45509418 [GRCh38]
Chr21:46929332 [GRCh37]
Chr21:21q22.3
likely benign
NM_001379500.1(COL18A1):c.2904C>G (p.Gly968=) single nucleotide variant not provided [RCV002199472] Chr21:45505169 [GRCh38]
Chr21:46925083 [GRCh37]
Chr21:21q22.3
likely benign
NM_001379500.1(COL18A1):c.2799C>T (p.Phe933=) single nucleotide variant not provided [RCV002139116] Chr21:45504487 [GRCh38]
Chr21:46924401 [GRCh37]
Chr21:21q22.3
likely benign
NM_001379500.1(COL18A1):c.3957G>A (p.Ala1319=) single nucleotide variant not provided [RCV002117598] Chr21:45512335 [GRCh38]
Chr21:46932249 [GRCh37]
Chr21:21q22.3
likely benign
NM_001379500.1(COL18A1):c.2814C>A (p.Pro938=) single nucleotide variant not provided [RCV002197872] Chr21:45504502 [GRCh38]
Chr21:46924416 [GRCh37]
Chr21:21q22.3
likely benign
NM_001379500.1(COL18A1):c.3672C>T (p.Ala1224=) single nucleotide variant not provided [RCV002218514] Chr21:45510240 [GRCh38]
Chr21:46930154 [GRCh37]
Chr21:21q22.3
likely benign
NM_001379500.1(COL18A1):c.3810-9G>A single nucleotide variant not provided [RCV002175352] Chr21:45512179 [GRCh38]
Chr21:46932093 [GRCh37]
Chr21:21q22.3
likely benign
NM_001379500.1(COL18A1):c.2814C>T (p.Pro938=) single nucleotide variant not provided [RCV002119406] Chr21:45504502 [GRCh38]
Chr21:46924416 [GRCh37]
Chr21:21q22.3
likely benign
NM_001379500.1(COL18A1):c.3809+10C>T single nucleotide variant not provided [RCV002198078] Chr21:45511236 [GRCh38]
Chr21:46931150 [GRCh37]
Chr21:21q22.3
likely benign
NM_001379500.1(COL18A1):c.3279C>T (p.Pro1093=) single nucleotide variant not provided [RCV002121601] Chr21:45509385 [GRCh38]
Chr21:46929299 [GRCh37]
Chr21:21q22.3
likely benign
NM_001379500.1(COL18A1):c.2869-4G>A single nucleotide variant not provided [RCV002175855] Chr21:45505130 [GRCh38]
Chr21:46925044 [GRCh37]
Chr21:21q22.3
likely benign
NM_001379500.1(COL18A1):c.3127G>A (p.Val1043Met) single nucleotide variant not provided [RCV002135967] Chr21:45505877 [GRCh38]
Chr21:46925791 [GRCh37]
Chr21:21q22.3
likely benign
NM_001379500.1(COL18A1):c.3879G>A (p.Thr1293=) single nucleotide variant not provided [RCV002082081] Chr21:45512257 [GRCh38]
Chr21:46932171 [GRCh37]
Chr21:21q22.3
likely benign
NM_194255.4(SLC19A1):c.972G>A (p.Ala324=) single nucleotide variant not provided [RCV002137940] Chr21:45530949 [GRCh38]
Chr21:46950863 [GRCh37]
Chr21:21q22.3
benign
NM_001379500.1(COL18A1):c.3250-9C>T single nucleotide variant not provided [RCV002118442] Chr21:45509347 [GRCh38]
Chr21:46929261 [GRCh37]
Chr21:21q22.3
likely benign
NM_001379500.1(COL18A1):c.3014-4G>A single nucleotide variant not provided [RCV002122094] Chr21:45505354 [GRCh38]
Chr21:46925268 [GRCh37]
Chr21:21q22.3
likely benign
NM_001379500.1(COL18A1):c.3190G>A (p.Val1064Met) single nucleotide variant not provided [RCV002122345] Chr21:45505940 [GRCh38]
Chr21:46925854 [GRCh37]
Chr21:21q22.3
likely benign
NM_001379500.1(COL18A1):c.3087+8T>A single nucleotide variant not provided [RCV002176256] Chr21:45505439 [GRCh38]
Chr21:46925353 [GRCh37]
Chr21:21q22.3
likely benign
NM_001379500.1(COL18A1):c.3705G>C (p.Leu1235=) single nucleotide variant not provided [RCV002202386] Chr21:45511122 [GRCh38]
Chr21:46931036 [GRCh37]
Chr21:21q22.3
likely benign
NM_001379500.1(COL18A1):c.3633G>A (p.Gln1211=) single nucleotide variant not provided [RCV002182172] Chr21:45510201 [GRCh38]
Chr21:46930115 [GRCh37]
Chr21:21q22.3
likely benign
NM_001379500.1(COL18A1):c.3630G>A (p.Leu1210=) single nucleotide variant not provided [RCV002217826] Chr21:45510198 [GRCh38]
Chr21:46930112 [GRCh37]
Chr21:21q22.3
likely benign
NM_194255.4(SLC19A1):c.950-14C>T single nucleotide variant not provided [RCV002155303] Chr21:45530985 [GRCh38]
Chr21:46950899 [GRCh37]
Chr21:21q22.3
benign
NM_001379500.1(COL18A1):c.3450A>C (p.Arg1150=) single nucleotide variant not provided [RCV002140670] Chr21:45509556 [GRCh38]
Chr21:46929470 [GRCh37]
Chr21:21q22.3
likely benign
NM_001379500.1(COL18A1):c.3249+9C>A single nucleotide variant not provided [RCV002142622] Chr21:45507602 [GRCh38]
Chr21:46927516 [GRCh37]
Chr21:21q22.3
likely benign
NM_001379500.1(COL18A1):c.3496-17C>G single nucleotide variant not provided [RCV002181081] Chr21:45510047 [GRCh38]
Chr21:46929961 [GRCh37]
Chr21:21q22.3
likely benign
NM_001379500.1(COL18A1):c.3927G>T (p.Leu1309=) single nucleotide variant not provided [RCV002216537] Chr21:45512305 [GRCh38]
Chr21:46932219 [GRCh37]
Chr21:21q22.3
likely benign
NM_194255.4(SLC19A1):c.837C>T (p.Ala279=) single nucleotide variant not provided [RCV002203729] Chr21:45531501 [GRCh38]
Chr21:46951415 [GRCh37]
Chr21:21q22.3
benign
NM_001379500.1(COL18A1):c.2869-8G>A single nucleotide variant not provided [RCV002198017] Chr21:45505126 [GRCh38]
Chr21:46925040 [GRCh37]
Chr21:21q22.3
likely benign
NM_001379500.1(COL18A1):c.2784G>A (p.Gly928=) single nucleotide variant not provided [RCV002100038] Chr21:45504472 [GRCh38]
Chr21:46924386 [GRCh37]
Chr21:21q22.3
likely benign
NM_001379500.1(COL18A1):c.3087+18C>A single nucleotide variant not provided [RCV002163363] Chr21:45505449 [GRCh38]
Chr21:46925363 [GRCh37]
Chr21:21q22.3
likely benign
NM_001379500.1(COL18A1):c.3834C>T (p.Gly1278=) single nucleotide variant not provided [RCV002143158] Chr21:45512212 [GRCh38]
Chr21:46932126 [GRCh37]
Chr21:21q22.3
likely benign
NM_001379500.1(COL18A1):c.3810-15C>T single nucleotide variant not provided [RCV002175682] Chr21:45512173 [GRCh38]
Chr21:46932087 [GRCh37]
Chr21:21q22.3
likely benign
NM_001379500.1(COL18A1):c.3984C>G (p.Leu1328=) single nucleotide variant not provided [RCV002156948] Chr21:45512362 [GRCh38]
Chr21:46932276 [GRCh37]
Chr21:21q22.3
likely benign
NM_001379500.1(COL18A1):c.3249+16del deletion not provided [RCV002219637] Chr21:45507604 [GRCh38]
Chr21:46927518 [GRCh37]
Chr21:21q22.3
benign
NM_001379500.1(COL18A1):c.3648C>T (p.Ile1216=) single nucleotide variant not provided [RCV002142315] Chr21:45510216 [GRCh38]
Chr21:46930130 [GRCh37]
Chr21:21q22.3
likely benign
NM_001379500.1(COL18A1):c.2868+8C>A single nucleotide variant not provided [RCV002162616] Chr21:45504564 [GRCh38]
Chr21:46924478 [GRCh37]
Chr21:21q22.3
likely benign
NM_001379500.1(COL18A1):c.2829C>T (p.Pro943=) single nucleotide variant not provided [RCV002099291] Chr21:45504526 [GRCh38]
Chr21:46924440 [GRCh37]
Chr21:21q22.3
likely benign
NM_001379500.1(COL18A1):c.3496-12C>T single nucleotide variant not provided [RCV002161201] Chr21:45510052 [GRCh38]
Chr21:46929966 [GRCh37]
Chr21:21q22.3
likely benign
NM_001379500.1(COL18A1):c.3810-19G>A single nucleotide variant not provided [RCV002142562] Chr21:45512169 [GRCh38]
Chr21:46932083 [GRCh37]
Chr21:21q22.3
likely benign
NM_001379500.1(COL18A1):c.3120G>A (p.Leu1040=) single nucleotide variant not provided [RCV002164570] Chr21:45505870 [GRCh38]
Chr21:46925784 [GRCh37]
Chr21:21q22.3
likely benign
NM_001379500.1(COL18A1):c.3755C>T (p.Pro1252Leu) single nucleotide variant not provided [RCV002204652] Chr21:45511172 [GRCh38]
Chr21:46931086 [GRCh37]
Chr21:21q22.3
likely benign
NM_001379500.1(COL18A1):c.2955C>G (p.Gly985=) single nucleotide variant not provided [RCV002162631] Chr21:45505220 [GRCh38]
Chr21:46925134 [GRCh37]
Chr21:21q22.3
likely benign
NM_001379500.1(COL18A1):c.2928C>T (p.Pro976=) single nucleotide variant not provided [RCV002099759] Chr21:45505193 [GRCh38]
Chr21:46925107 [GRCh37]
Chr21:21q22.3
likely benign
NM_001379500.1(COL18A1):c.3039C>T (p.Gly1013=) single nucleotide variant not provided [RCV002157600] Chr21:45505383 [GRCh38]
Chr21:46925297 [GRCh37]
Chr21:21q22.3
likely benign
NM_001379500.1(COL18A1):c.2684-17C>G single nucleotide variant not provided [RCV002142279] Chr21:45503994 [GRCh38]
Chr21:46923908 [GRCh37]
Chr21:21q22.3
likely benign
NM_001379500.1(COL18A1):c.3756C>T (p.Pro1252=) single nucleotide variant not provided [RCV002119549] Chr21:45511173 [GRCh38]
Chr21:46931087 [GRCh37]
Chr21:21q22.3
likely benign
NM_001379500.1(COL18A1):c.3216+18C>T single nucleotide variant not provided [RCV002122933] Chr21:45505984 [GRCh38]
Chr21:46925898 [GRCh37]
Chr21:21q22.3
benign
NM_001379500.1(COL18A1):c.3582G>A (p.Arg1194=) single nucleotide variant not provided [RCV002142537] Chr21:45510150 [GRCh38]
Chr21:46930064 [GRCh37]
Chr21:21q22.3
likely benign
NM_001379500.1(COL18A1):c.3993G>A (p.Glu1331=) single nucleotide variant not provided [RCV002182589] Chr21:45512371 [GRCh38]
Chr21:46932285 [GRCh37]
Chr21:21q22.3
likely benign
NM_001379500.1(COL18A1):c.2684-14TC[5] microsatellite not provided [RCV002201761] Chr21:45503996..45503997 [GRCh38]
Chr21:46923910..46923911 [GRCh37]
Chr21:21q22.3
likely benign
NM_001379500.1(COL18A1):c.2976C>T (p.Pro992=) single nucleotide variant not provided [RCV002081728] Chr21:45505241 [GRCh38]
Chr21:46925155 [GRCh37]
Chr21:21q22.3
likely benign
NM_001379500.1(COL18A1):c.3694-15_3694-14insA insertion not provided [RCV002123067] Chr21:45511096..45511097 [GRCh38]
Chr21:46931010..46931011 [GRCh37]
Chr21:21q22.3
likely benign
NM_001379500.1(COL18A1):c.2934C>T (p.Ile978=) single nucleotide variant not provided [RCV002083802] Chr21:45505199 [GRCh38]
Chr21:46925113 [GRCh37]
Chr21:21q22.3
likely benign
NM_001379500.1(COL18A1):c.3405C>T (p.Pro1135=) single nucleotide variant not provided [RCV002103897] Chr21:45509511 [GRCh38]
Chr21:46929425 [GRCh37]
Chr21:21q22.3
likely benign
NM_001379500.1(COL18A1):c.2940C>T (p.Tyr980=) single nucleotide variant not provided [RCV002200637] Chr21:45505205 [GRCh38]
Chr21:46925119 [GRCh37]
Chr21:21q22.3
likely benign
NM_001379500.1(COL18A1):c.2754A>C (p.Ala918=) single nucleotide variant not provided [RCV002219377] Chr21:45504442 [GRCh38]
Chr21:46924356 [GRCh37]
Chr21:21q22.3
likely benign
NM_194255.4(SLC19A1):c.1406C>T (p.Ala469Val) single nucleotide variant not provided [RCV002158592] Chr21:45516028 [GRCh38]
Chr21:46935942 [GRCh37]
Chr21:21q22.3
benign
NM_001379500.1(COL18A1):c.3013+16G>A single nucleotide variant not provided [RCV002198786] Chr21:45505294 [GRCh38]
Chr21:46925208 [GRCh37]
Chr21:21q22.3
likely benign
NM_001379500.1(COL18A1):c.3888G>A (p.Thr1296=) single nucleotide variant not provided [RCV002102833] Chr21:45512266 [GRCh38]
Chr21:46932180 [GRCh37]
Chr21:21q22.3
likely benign
NM_001379500.1(COL18A1):c.3291G>A (p.Leu1097=) single nucleotide variant not provided [RCV002141612] Chr21:45509397 [GRCh38]
Chr21:46929311 [GRCh37]
Chr21:21q22.3
likely benign
NM_001379500.1(COL18A1):c.2966_2967insTCCAGGCCC (p.985GPP[5]) insertion not provided [RCV002178514] Chr21:45505226..45505227 [GRCh38]
Chr21:46925140..46925141 [GRCh37]
Chr21:21q22.3
likely benign
NM_001379500.1(COL18A1):c.2727+8A>T single nucleotide variant not provided [RCV002180079] Chr21:45504062 [GRCh38]
Chr21:46923976 [GRCh37]
Chr21:21q22.3
likely benign
NM_001379500.1(COL18A1):c.3250-16C>T single nucleotide variant not provided [RCV002158944] Chr21:45509340 [GRCh38]
Chr21:46929254 [GRCh37]
Chr21:21q22.3
likely benign
NM_001379500.1(COL18A1):c.3216+7G>A single nucleotide variant not provided [RCV002124030] Chr21:45505973 [GRCh38]
Chr21:46925887 [GRCh37]
Chr21:21q22.3
likely benign
NM_001379500.1(COL18A1):c.2710T>C (p.Leu904=) single nucleotide variant not provided [RCV002160526] Chr21:45504037 [GRCh38]
Chr21:46923951 [GRCh37]
Chr21:21q22.3
likely benign
NM_001379500.1(COL18A1):c.3930G>A (p.Gly1310=) single nucleotide variant not provided [RCV002138767] Chr21:45512308 [GRCh38]
Chr21:46932222 [GRCh37]
Chr21:21q22.3
likely benign
NM_001379500.1(COL18A1):c.3249+9C>T single nucleotide variant not provided [RCV002082961] Chr21:45507602 [GRCh38]
Chr21:46927516 [GRCh37]
Chr21:21q22.3
likely benign
NM_001379500.1(COL18A1):c.3240A>C (p.Pro1080=) single nucleotide variant not provided [RCV002218198] Chr21:45507584 [GRCh38]
Chr21:46927498 [GRCh37]
Chr21:21q22.3
likely benign
NM_001379500.1(COL18A1):c.2796C>T (p.Phe932=) single nucleotide variant not provided [RCV002157987] Chr21:45504484 [GRCh38]
Chr21:46924398 [GRCh37]
Chr21:21q22.3
likely benign
NM_001379500.1(COL18A1):c.3954C>T (p.Ala1318=) single nucleotide variant not provided [RCV002220758] Chr21:45512332 [GRCh38]
Chr21:46932246 [GRCh37]
Chr21:21q22.3
likely benign
NM_001379500.1(COL18A1):c.3694-15_3694-14insAT insertion not provided [RCV002154443] Chr21:45511096..45511097 [GRCh38]
Chr21:46931010..46931011 [GRCh37]
Chr21:21q22.3
likely benign
NM_001379500.1(COL18A1):c.2820C>T (p.Pro940=) single nucleotide variant not provided [RCV002183688] Chr21:45504508 [GRCh38]
Chr21:46924422 [GRCh37]
Chr21:21q22.3
likely benign
NM_001379500.1(COL18A1):c.3693+12C>T single nucleotide variant not provided [RCV002175835] Chr21:45510273 [GRCh38]
Chr21:46930187 [GRCh37]
Chr21:21q22.3
likely benign
NM_001379500.1(COL18A1):c.3780C>T (p.Asp1260=) single nucleotide variant not provided [RCV002098528] Chr21:45511197 [GRCh38]
Chr21:46931111 [GRCh37]
Chr21:21q22.3
likely benign
NM_001379500.1(COL18A1):c.2979_2987del (p.985GPP[3]) deletion not provided [RCV002123746] Chr21:45505239..45505247 [GRCh38]
Chr21:46925153..46925161 [GRCh37]
Chr21:21q22.3
benign
NM_001379500.1(COL18A1):c.3013+14G>T single nucleotide variant not provided [RCV002184013] Chr21:45505292 [GRCh38]
Chr21:46925206 [GRCh37]
Chr21:21q22.3
likely benign
NM_001379500.1(COL18A1):c.3660C>T (p.Ala1220=) single nucleotide variant not provided [RCV002136327] Chr21:45510228 [GRCh38]
Chr21:46930142 [GRCh37]
Chr21:21q22.3
likely benign
NM_001379500.1(COL18A1):c.2684-7C>T single nucleotide variant not provided [RCV002138481] Chr21:45504004 [GRCh38]
Chr21:46923918 [GRCh37]
Chr21:21q22.3
likely benign
NM_001379500.1(COL18A1):c.3171G>A (p.Gln1057=) single nucleotide variant not provided [RCV002160261] Chr21:45505921 [GRCh38]
Chr21:46925835 [GRCh37]
Chr21:21q22.3
likely benign
NM_001379500.1(COL18A1):c.3496-19C>T single nucleotide variant not provided [RCV002123883] Chr21:45510045 [GRCh38]
Chr21:46929959 [GRCh37]
Chr21:21q22.3
likely benign
NM_001379500.1(COL18A1):c.3694-14G>A single nucleotide variant not provided [RCV002136545] Chr21:45511097 [GRCh38]
Chr21:46931011 [GRCh37]
Chr21:21q22.3
likely benign
NM_001379500.1(COL18A1):c.2943G>A (p.Glu981=) single nucleotide variant not provided [RCV002220035] Chr21:45505208 [GRCh38]
Chr21:46925122 [GRCh37]
Chr21:21q22.3
likely benign
NM_001379500.1(COL18A1):c.3496-16G>A single nucleotide variant not provided [RCV002158681] Chr21:45510048 [GRCh38]
Chr21:46929962 [GRCh37]
Chr21:21q22.3
likely benign
NM_001379500.1(COL18A1):c.2869-9C>T single nucleotide variant not provided [RCV002122282] Chr21:45505125 [GRCh38]
Chr21:46925039 [GRCh37]
Chr21:21q22.3
likely benign
NM_001379500.1(COL18A1):c.3087+15A>C single nucleotide variant not provided [RCV002120880] Chr21:45505446 [GRCh38]
Chr21:46925360 [GRCh37]
Chr21:21q22.3
likely benign
NM_001379500.1(COL18A1):c.2684-14TC[3] microsatellite not provided [RCV002159188] Chr21:45503997..45503998 [GRCh38]
Chr21:46923911..46923912 [GRCh37]
Chr21:21q22.3
likely benign
GRCh37/hg19 21q22.3(chr21:45808650-47529568)x1 copy number loss not provided [RCV002291533] Chr21:45808650..47529568 [GRCh37]
Chr21:21q22.3
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
NM_001379500.1(COL18A1):c.2797T>C (p.Phe933Leu) single nucleotide variant not provided [RCV002299152] Chr21:45504485 [GRCh38]
Chr21:46924399 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.2869G>A (p.Gly957Ser) single nucleotide variant not provided [RCV002295998] Chr21:45505134 [GRCh38]
Chr21:46925048 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.3325C>A (p.Pro1109Thr) single nucleotide variant not provided [RCV002299527] Chr21:45509431 [GRCh38]
Chr21:46929345 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.3062C>G (p.Pro1021Arg) single nucleotide variant not provided [RCV002308944] Chr21:45505406 [GRCh38]
Chr21:46925320 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001379500.1(COL18A1):c.3146G>C (p.Gly1049Ala) single nucleotide variant not provided [RCV002303075] Chr21:45505896 [GRCh38]
Chr21:46925810 [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
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:6037
Count of miRNA genes:1224
Interacting mature miRNAs:1586
Transcripts:ENST00000311124, ENST00000380010, ENST00000417954, ENST00000427839, ENST00000443742, ENST00000460174, ENST00000461785, ENST00000468508, ENST00000477688, ENST00000485649, ENST00000486303, ENST00000528477, ENST00000567670
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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

Markers in Region
SHGC-8080  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372146,932,501 - 46,932,732UniSTSGRCh37
Build 362145,756,929 - 45,757,160RGDNCBI36
Celera2132,043,370 - 32,043,601RGD
Cytogenetic Map21q22.3UniSTS
HuRef2132,308,962 - 32,309,193UniSTS
GeneMap99-G3 RH Map211594.0UniSTS
SHGC-87711  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372146,933,390 - 46,933,616UniSTSGRCh37
Build 362145,757,818 - 45,758,044RGDNCBI36
Celera2132,044,259 - 32,044,485RGD
Cytogenetic Map21q22.3UniSTS
HuRef2132,309,851 - 32,310,077UniSTS
TNG Radiation Hybrid Map2119502.0UniSTS
GeneMap99-GB4 RH Map21247.59UniSTS
NCBI RH Map21407.7UniSTS
RH91121  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372146,934,710 - 46,934,878UniSTSGRCh37
Build 362145,759,138 - 45,759,306RGDNCBI36
Celera2132,045,579 - 32,045,747RGD
Cytogenetic Map21q22.3UniSTS
HuRef2132,311,171 - 32,311,339UniSTS
SHGC-12530  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372146,933,272 - 46,933,613UniSTSGRCh37
Build 362145,757,700 - 45,758,041RGDNCBI36
Celera2132,044,141 - 32,044,482RGD
Cytogenetic Map21q22.3UniSTS
HuRef2132,309,733 - 32,310,074UniSTS
TNG Radiation Hybrid Map2119502.0UniSTS
STS_CEB288  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372146,946,998 - 46,947,819UniSTSGRCh37
Build 362145,771,426 - 45,772,247RGDNCBI36
Celera2132,057,867 - 32,058,688RGD
Cytogenetic Map21q22.3UniSTS
HuRef2132,323,159 - 32,323,881UniSTS
COL18A1_540.2  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372146,933,013 - 46,933,711UniSTSGRCh37
Build 362145,757,441 - 45,758,139RGDNCBI36
Celera2132,043,882 - 32,044,580RGD
HuRef2132,309,474 - 32,310,172UniSTS
STS-T97724  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372146,934,667 - 46,934,771UniSTSGRCh37
Build 362145,759,095 - 45,759,199RGDNCBI36
Celera2132,045,536 - 32,045,640RGD
Cytogenetic Map21q22.3UniSTS
HuRef2132,311,128 - 32,311,232UniSTS
GeneMap99-GB4 RH Map21249.04UniSTS
NCBI RH Map21407.7UniSTS
RH78304  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372146,934,797 - 46,934,929UniSTSGRCh37
Build 362145,759,225 - 45,759,357RGDNCBI36
Celera2132,045,666 - 32,045,798RGD
Cytogenetic Map21q22.3UniSTS
HuRef2132,311,258 - 32,311,390UniSTS
GeneMap99-GB4 RH Map21255.76UniSTS
NCBI RH Map21407.7UniSTS
SHGC-87717  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372146,934,649 - 46,934,748UniSTSGRCh37
Build 362145,759,077 - 45,759,176RGDNCBI36
Celera2132,045,518 - 32,045,617RGD
Cytogenetic Map21q22.3UniSTS
HuRef2132,311,110 - 32,311,209UniSTS
TNG Radiation Hybrid Map2119502.0UniSTS
GeneMap99-GB4 RH Map21248.62UniSTS
Whitehead-RH Map21254.8UniSTS
NCBI RH Map21407.7UniSTS


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component
High
Medium 150 792 412 65 919 67 673 46 526 48 348 885 4 42 499 2
Low 2279 2134 1311 557 997 397 3609 2017 3183 357 1101 721 167 1162 2216 3
Below cutoff 4 58 1 32 73 130 6 13 2 1 1 1 73

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_028278 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001205206 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001205207 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001352510 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001352511 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001352512 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_194255 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011529696 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011529698 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011529700 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011529701 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011529702 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011529703 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011529706 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011529709 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017028443 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017028444 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017028445 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047440954 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047440955 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047440956 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047440957 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047440958 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047440959 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047440960 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047440961 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047440962 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047440963 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047440964 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047440965 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB209069 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF004354 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF046920 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF064602 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH006305 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH011689 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK303168 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK307623 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK310797 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK313125 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL163302 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC003068 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC023005 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC128247 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX322561 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CB959876 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CB995207 (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
  DC311922 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MT937140 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MT937141 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MT937142 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MT954627 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S78996 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U15939 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U17566 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U19720 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000311124   ⟹   ENSP00000308895
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2145,512,565 - 45,542,440 (-)Ensembl
RefSeq Acc Id: ENST00000380010   ⟹   ENSP00000369347
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2145,514,715 - 45,542,471 (-)Ensembl
RefSeq Acc Id: ENST00000417954   ⟹   ENSP00000393988
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2145,493,572 - 45,531,541 (-)Ensembl
RefSeq Acc Id: ENST00000427839   ⟹   ENSP00000401850
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2145,531,791 - 45,541,838 (-)Ensembl
RefSeq Acc Id: ENST00000443742   ⟹   ENSP00000411345
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2145,531,874 - 45,544,400 (-)Ensembl
RefSeq Acc Id: ENST00000460174
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2145,512,825 - 45,515,768 (-)Ensembl
RefSeq Acc Id: ENST00000461785
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2145,502,513 - 45,504,121 (-)Ensembl
RefSeq Acc Id: ENST00000468508
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2145,512,362 - 45,515,133 (-)Ensembl
RefSeq Acc Id: ENST00000485649   ⟹   ENSP00000441772
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2145,515,518 - 45,534,706 (-)Ensembl
RefSeq Acc Id: ENST00000486303
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2145,535,984 - 45,537,933 (-)Ensembl
RefSeq Acc Id: ENST00000528477   ⟹   ENSP00000435780
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2145,537,778 - 45,544,402 (-)Ensembl
RefSeq Acc Id: ENST00000567670   ⟹   ENSP00000457278
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2145,498,201 - 45,544,411 (-)Ensembl
RefSeq Acc Id: ENST00000650808   ⟹   ENSP00000498221
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2145,514,715 - 45,563,115 (-)Ensembl
RefSeq Acc Id: ENST00000651099
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2145,562,221 - 45,573,365 (-)Ensembl
RefSeq Acc Id: NM_001205206   ⟹   NP_001192135
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382145,512,547 - 45,542,440 (-)NCBI
GRCh372146,934,629 - 46,983,045 (-)NCBI
HuRef2132,311,090 - 32,338,803 (-)ENTREZGENE
CHM1_12146,495,459 - 46,523,222 (-)NCBI
T2T-CHM13v2.02143,880,658 - 43,910,803 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001205207   ⟹   NP_001192136
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382145,512,565 - 45,534,756 (-)NCBI
GRCh372146,934,629 - 46,983,045 (-)NCBI
HuRef2132,311,090 - 32,338,803 (-)ENTREZGENE
CHM1_12146,495,459 - 46,515,380 (-)NCBI
T2T-CHM13v2.02143,880,676 - 43,902,987 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001352510   ⟹   NP_001339439
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382145,512,565 - 45,542,440 (-)NCBI
T2T-CHM13v2.02143,880,676 - 43,910,803 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001352511   ⟹   NP_001339440
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382145,512,547 - 45,563,025 (-)NCBI
T2T-CHM13v2.02143,880,658 - 43,932,046 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001352512   ⟹   NP_001339441
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382145,512,565 - 45,541,846 (-)NCBI
T2T-CHM13v2.02143,880,676 - 43,910,209 (-)NCBI
Sequence:
RefSeq Acc Id: NM_194255   ⟹   NP_919231
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382145,512,565 - 45,542,440 (-)NCBI
GRCh372146,934,629 - 46,983,045 (-)NCBI
Build 362145,759,057 - 45,786,779 (-)NCBI Archive
HuRef2132,311,090 - 32,338,803 (-)ENTREZGENE
CHM1_12146,495,459 - 46,523,222 (-)NCBI
T2T-CHM13v2.02143,880,676 - 43,910,803 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011529696   ⟹   XP_011527998
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382145,512,565 - 45,563,025 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011529698   ⟹   XP_011528000
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382145,512,565 - 45,541,846 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011529700   ⟹   XP_011528002
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382145,512,565 - 45,563,025 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011529702   ⟹   XP_011528004
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382145,512,565 - 45,542,326 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011529703   ⟹   XP_011528005
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382145,512,565 - 45,541,707 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011529706   ⟹   XP_011528008
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382145,512,565 - 45,535,777 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017028443   ⟹   XP_016883932
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382145,512,565 - 45,543,861 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047440954   ⟹   XP_047296910
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382145,512,565 - 45,563,025 (-)NCBI