AGPS (alkylglycerone phosphate synthase) - Rat Genome Database

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Gene: AGPS (alkylglycerone phosphate synthase) Homo sapiens
Analyze
Symbol: AGPS
Name: alkylglycerone phosphate synthase
RGD ID: 732011
HGNC Page HGNC:327
Description: Enables alkylglycerone-phosphate synthase activity. Acts upstream of or within lipid biosynthetic process. Located in peroxisome. Implicated in rhizomelic chondrodysplasia punctata and rhizomelic chondrodysplasia punctata type 3.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: ADAP-S; ADAS; ADHAPS; ADPS; aging-associated gene 5 protein; aging-associated protein 5; ALDHPSY; alkyl-DHAP synthase; alkyldihydroxyacetonephosphate synthase, peroxisomal; alkylglycerone-phosphate synthase; DKFZp762O2215; FLJ99755; RCDP3
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382177,392,773 - 177,543,834 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2177,392,746 - 177,567,024 (+)EnsemblGRCh38hg38GRCh38
GRCh372178,257,501 - 178,408,562 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362177,965,731 - 178,112,411 (+)NCBINCBI36Build 36hg18NCBI36
Build 342178,083,009 - 178,228,512NCBI
Celera2171,860,003 - 172,011,409 (+)NCBICelera
Cytogenetic Map2q31.2NCBI
HuRef2170,128,203 - 170,279,631 (+)NCBIHuRef
CHM1_12178,262,812 - 178,413,489 (+)NCBICHM1_1
T2T-CHM13v2.02177,875,047 - 178,026,109 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


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

Biological Process

Cellular Component
cytosol  (TAS)
membrane  (HDA,IEA)
mitochondrion  (HDA)
peroxisomal matrix  (TAS)
peroxisomal membrane  (HDA,IEA)
peroxisome  (IBA,IDA,IEA,ISO)

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. Alkyl-dihydroxyacetonephosphate synthase. Fate in peroxisome biogenesis disorders and identification of the point mutation underlying a single enzyme deficiency. de Vet EC, etal., J Biol Chem 1998 Apr 24;273(17):10296-301.
2. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
3. Activities of enzymes involved in the metabolism of ether-linked lipids in normal and neoplastic tissues of rat. Lee TC, etal., Biochim Biophys Acta. 1980 Aug 11;619(2):420-3.
4. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
5. SMPDB Annotation Import Pipeline Pipeline to import SMPDB annotations from SMPDB into RGD
6. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
7. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
8. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:1495418   PMID:2464339   PMID:3646870   PMID:4031664   PMID:7807941   PMID:8125298   PMID:8399344   PMID:9187299   PMID:9266692   PMID:10215861   PMID:10384985   PMID:10415121  
PMID:10553003   PMID:10683770   PMID:11152660   PMID:11330037   PMID:12477932   PMID:16756494   PMID:17601746   PMID:18029348   PMID:18571506   PMID:19946888   PMID:20379614   PMID:20562859  
PMID:20833797   PMID:20877624   PMID:21525035   PMID:21873635   PMID:21990100   PMID:22002062   PMID:22190034   PMID:22939629   PMID:23752268   PMID:23980144   PMID:24147044   PMID:24244333  
PMID:24711643   PMID:24815474   PMID:24841318   PMID:25416956   PMID:25505242   PMID:25542233   PMID:25921289   PMID:25963833   PMID:26344197   PMID:26496610   PMID:26972000   PMID:28380382  
PMID:28561026   PMID:29128334   PMID:29180619   PMID:29467282   PMID:29507755   PMID:29509794   PMID:29564676   PMID:29568061   PMID:29676528   PMID:29955894   PMID:30378028   PMID:30397336  
PMID:30463901   PMID:30559450   PMID:30737378   PMID:30948266   PMID:31091453   PMID:31280863   PMID:31515488   PMID:31536960   PMID:31586073   PMID:31950832   PMID:32176739   PMID:32296183  
PMID:32353859   PMID:32687490   PMID:33060197   PMID:33226137   PMID:33545068   PMID:33742100   PMID:34079125   PMID:34244565   PMID:34621897   PMID:34709727   PMID:34901782   PMID:35032548  
PMID:35256949   PMID:35271311   PMID:35439318   PMID:35509820   PMID:35844135   PMID:35944360   PMID:36042349   PMID:36215168   PMID:36244648   PMID:36517590   PMID:37827155   PMID:38200609  


Genomics

Comparative Map Data
AGPS
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382177,392,773 - 177,543,834 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2177,392,746 - 177,567,024 (+)EnsemblGRCh38hg38GRCh38
GRCh372178,257,501 - 178,408,562 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362177,965,731 - 178,112,411 (+)NCBINCBI36Build 36hg18NCBI36
Build 342178,083,009 - 178,228,512NCBI
Celera2171,860,003 - 172,011,409 (+)NCBICelera
Cytogenetic Map2q31.2NCBI
HuRef2170,128,203 - 170,279,631 (+)NCBIHuRef
CHM1_12178,262,812 - 178,413,489 (+)NCBICHM1_1
T2T-CHM13v2.02177,875,047 - 178,026,109 (+)NCBIT2T-CHM13v2.0
Agps
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39275,662,477 - 75,761,694 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl275,662,521 - 75,761,694 (+)EnsemblGRCm39 Ensembl
GRCm38275,832,177 - 75,931,350 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl275,832,177 - 75,931,350 (+)EnsemblGRCm38mm10GRCm38
MGSCv37275,670,234 - 75,769,407 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36275,633,031 - 75,730,489 (+)NCBIMGSCv36mm8
Celera277,493,849 - 77,593,052 (+)NCBICelera
Cytogenetic Map2C3NCBI
cM Map244.77NCBI
Agps
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8381,154,599 - 81,253,099 (+)NCBIGRCr8
mRatBN7.2360,747,323 - 60,845,831 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl360,747,323 - 60,845,830 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx364,120,994 - 64,219,055 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0372,704,658 - 72,802,714 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0370,471,616 - 70,569,962 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0362,648,352 - 62,749,250 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl362,648,447 - 62,749,153 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0369,193,349 - 69,296,169 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.1358,425,040 - 58,444,100 (+)NCBI
Celera360,248,210 - 60,345,456 (+)NCBICelera
Cytogenetic Map3q23NCBI
Agps
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495540319,257,501 - 19,381,901 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495540319,253,784 - 19,381,883 (-)NCBIChiLan1.0ChiLan1.0
AGPS
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21380,058,687 - 80,208,144 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12B80,073,679 - 80,223,118 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v02B64,671,136 - 64,823,956 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12B182,375,149 - 182,526,192 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2B182,375,149 - 182,520,557 (+)Ensemblpanpan1.1panPan2
AGPS
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13621,131,616 - 21,264,615 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl3621,131,641 - 21,329,467 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3621,149,863 - 21,284,172 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.03621,274,757 - 21,409,268 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl3621,276,105 - 21,474,081 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.13621,345,042 - 21,479,391 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.03621,346,803 - 21,481,415 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.03621,462,141 - 21,596,527 (+)NCBIUU_Cfam_GSD_1.0
Agps
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405303138,188,897 - 138,319,862 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365096,742,673 - 6,868,401 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365096,742,800 - 6,872,045 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
AGPS
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1583,146,002 - 83,391,984 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11583,146,063 - 83,285,905 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21592,609,561 - 92,727,304 (+)NCBISscrofa10.2Sscrofa10.2susScr3
AGPS
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11062,943,914 - 63,101,644 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1062,946,695 - 63,096,044 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666040136,479,515 - 136,640,249 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Agps
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462478714,513,082 - 14,656,632 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462478714,517,552 - 14,661,138 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in AGPS
664 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_003659.4(AGPS):c.831T>C (p.His277=) single nucleotide variant not provided [RCV001495062] Chr2:177445587 [GRCh38]
Chr2:178310315 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.1703C>T (p.Thr568Met) single nucleotide variant Rhizomelic chondrodysplasia punctata type 3 [RCV000029144] Chr2:177521274 [GRCh38]
Chr2:178386002 [GRCh37]
Chr2:2q31.2		 pathogenic
NM_003659.4(AGPS):c.1256G>A (p.Arg419His) single nucleotide variant Rhizomelic chondrodysplasia punctata type 3 [RCV000007024] Chr2:177493170 [GRCh38]
Chr2:178357898 [GRCh37]
Chr2:2q31.2		 pathogenic|likely pathogenic
NM_003659.4(AGPS):c.926C>T (p.Thr309Ile) single nucleotide variant Rhizomelic chondrodysplasia punctata type 3 [RCV000007025] Chr2:177461948 [GRCh38]
Chr2:178326676 [GRCh37]
Chr2:2q31.2		 pathogenic|likely pathogenic
NM_003659.4(AGPS):c.1406T>C (p.Leu469Pro) single nucleotide variant Rhizomelic chondrodysplasia punctata type 3 [RCV000007026] Chr2:177499661 [GRCh38]
Chr2:178364389 [GRCh37]
Chr2:2q31.2		 pathogenic
GRCh38/hg38 2q31.1-33.2(chr2:174898848-203941548)x1 copy number loss See cases [RCV000050980] Chr2:174898848..203941548 [GRCh38]
Chr2:175763576..204806271 [GRCh37]
Chr2:175471822..204514516 [NCBI36]
Chr2:2q31.1-33.2		 pathogenic
GRCh38/hg38 2q31.1-31.2(chr2:172779876-177598000)x1 copy number loss See cases [RCV000050765] Chr2:172779876..177598000 [GRCh38]
Chr2:173644604..178462728 [GRCh37]
Chr2:173352850..178170974 [NCBI36]
Chr2:2q31.1-31.2		 pathogenic
GRCh38/hg38 2q31.1-31.2(chr2:173408061-177702487)x1 copy number loss See cases [RCV000052555] Chr2:173408061..177702487 [GRCh38]
Chr2:174272789..178567215 [GRCh37]
Chr2:173981035..178275461 [NCBI36]
Chr2:2q31.1-31.2		 pathogenic
GRCh38/hg38 2q31.1-33.1(chr2:176304445-202039790)x1 copy number loss See cases [RCV000052558] Chr2:176304445..202039790 [GRCh38]
Chr2:177169173..202904513 [GRCh37]
Chr2:176877419..202612758 [NCBI36]
Chr2:2q31.1-33.1		 pathogenic
GRCh38/hg38 2q24.3-32.1(chr2:163965382-182195062)x1 copy number loss See cases [RCV000054122] Chr2:163965382..182195062 [GRCh38]
Chr2:164821892..183059789 [GRCh37]
Chr2:164530138..182768034 [NCBI36]
Chr2:2q24.3-32.1		 pathogenic
GRCh38/hg38 2q31.1-32.1(chr2:170407688-186189894)x1 copy number loss See cases [RCV000054127] Chr2:170407688..186189894 [GRCh38]
Chr2:171264198..187054621 [GRCh37]
Chr2:170972444..186762866 [NCBI36]
Chr2:2q31.1-32.1		 pathogenic
NM_003659.4(AGPS):c.261-5A>C single nucleotide variant Rhizomelic chondrodysplasia punctata [RCV001277026]|Rhizomelic chondrodysplasia punctata type 3 [RCV001001493]|not provided [RCV000836146]|not specified [RCV000145011] Chr2:177420264 [GRCh38]
Chr2:178284992 [GRCh37]
Chr2:2q31.2		 benign|likely benign
NM_003659.4(AGPS):c.1173C>G (p.Gly391=) single nucleotide variant Rhizomelic chondrodysplasia punctata type 3 [RCV001001533]|not provided [RCV000948610]|not specified [RCV000145008] Chr2:177482126 [GRCh38]
Chr2:178346854 [GRCh37]
Chr2:2q31.2		 benign|likely benign
NM_003659.4(AGPS):c.147C>T (p.Pro49=) single nucleotide variant Rhizomelic chondrodysplasia punctata [RCV001276315]|Rhizomelic chondrodysplasia punctata type 3 [RCV001001695]|not provided [RCV000676025]|not specified [RCV000145009] Chr2:177392936 [GRCh38]
Chr2:178257664 [GRCh37]
Chr2:2q31.2		 benign|likely benign|uncertain significance
NM_003659.4(AGPS):c.207A>G (p.Ala69=) single nucleotide variant Rhizomelic chondrodysplasia punctata [RCV001274999]|Rhizomelic chondrodysplasia punctata type 3 [RCV000364436]|not provided [RCV001515645]|not specified [RCV000145010] Chr2:177392996 [GRCh38]
Chr2:178257724 [GRCh37]
Chr2:2q31.2		 benign|likely benign|conflicting interpretations of pathogenicity
GRCh38/hg38 2q31.1-32.2(chr2:171429233-189179568)x1 copy number loss See cases [RCV000136850] Chr2:171429233..189179568 [GRCh38]
Chr2:172285743..190044294 [GRCh37]
Chr2:171993989..189752539 [NCBI36]
Chr2:2q31.1-32.2		 pathogenic
GRCh38/hg38 2q31.1-32.2(chr2:174634502-189000964)x1 copy number loss See cases [RCV000136861] Chr2:174634502..189000964 [GRCh38]
Chr2:175499230..189865690 [GRCh37]
Chr2:175207476..189573935 [NCBI36]
Chr2:2q31.1-32.2		 pathogenic
NM_003659.4(AGPS):c.214A>G (p.Thr72Ala) single nucleotide variant Inborn genetic diseases [RCV002515498]|Rhizomelic chondrodysplasia punctata type 3 [RCV000764289]|not provided [RCV000676026]|not specified [RCV000202921] Chr2:177393003 [GRCh38]
Chr2:178257731 [GRCh37]
Chr2:2q31.2		 uncertain significance
GRCh38/hg38 2q31.1-31.2(chr2:171513047-177854080)x1 copy number loss See cases [RCV000139646] Chr2:171513047..177854080 [GRCh38]
Chr2:172369557..178718807 [GRCh37]
Chr2:172077803..178427053 [NCBI36]
Chr2:2q31.1-31.2		 pathogenic
GRCh38/hg38 2q31.1-31.3(chr2:174236451-181188846)x1 copy number loss See cases [RCV000143597] Chr2:174236451..181188846 [GRCh38]
Chr2:175101179..182053573 [GRCh37]
Chr2:174809425..181761818 [NCBI36]
Chr2:2q31.1-31.3		 pathogenic
GRCh38/hg38 2q31.1-32.3(chr2:176086763-193201970)x1 copy number loss See cases [RCV000143484] Chr2:176086763..193201970 [GRCh38]
Chr2:176951491..194066696 [GRCh37]
Chr2:176659737..193774941 [NCBI36]
Chr2:2q31.1-32.3		 pathogenic
NM_003659.4(AGPS):c.1233+5A>G single nucleotide variant Rhizomelic chondrodysplasia punctata type 3 [RCV000386029]|not provided [RCV000972535]|not specified [RCV000596919] Chr2:177482191 [GRCh38]
Chr2:178346919 [GRCh37]
Chr2:2q31.2		 likely benign|uncertain significance
NM_003659.4(AGPS):c.*552T>G single nucleotide variant Rhizomelic chondrodysplasia punctata type 3 [RCV000262800] Chr2:177538747 [GRCh38]
Chr2:178403475 [GRCh37]
Chr2:2q31.2		 benign|likely benign
NM_003659.4(AGPS):c.65C>G (p.Ala22Gly) single nucleotide variant Inborn genetic diseases [RCV002521338]|Rhizomelic chondrodysplasia punctata type 3 [RCV000400035] Chr2:177392854 [GRCh38]
Chr2:178257582 [GRCh37]
Chr2:2q31.2		 likely benign|uncertain significance
NM_003659.4(AGPS):c.1233+14T>A single nucleotide variant Rhizomelic chondrodysplasia punctata type 3 [RCV000294138]|not provided [RCV002057610] Chr2:177482200 [GRCh38]
Chr2:178346928 [GRCh37]
Chr2:2q31.2		 benign|likely benign|uncertain significance
NM_003659.4(AGPS):c.1152C>A (p.Val384=) single nucleotide variant Rhizomelic chondrodysplasia punctata type 3 [RCV000262408]|not provided [RCV000904608] Chr2:177482105 [GRCh38]
Chr2:178346833 [GRCh37]
Chr2:2q31.2		 benign|likely benign|uncertain significance
NM_003659.4(AGPS):c.1767T>C (p.Ser589=) single nucleotide variant not provided [RCV001493746] Chr2:177521338 [GRCh38]
Chr2:178386066 [GRCh37]
Chr2:2q31.2		 likely benign
GRCh37/hg19 2q31.1-32.3(chr2:177315153-196375520)x1 copy number loss See cases [RCV000239432] Chr2:177315153..196375520 [GRCh37]
Chr2:2q31.1-32.3		 pathogenic
GRCh37/hg19 2q24.1-31.3(chr2:156489430-182921298)x3 copy number gain See cases [RCV000239848] Chr2:156489430..182921298 [GRCh37]
Chr2:2q24.1-31.3		 pathogenic
NM_003659.4(AGPS):c.35G>A (p.Gly12Asp) single nucleotide variant Rhizomelic chondrodysplasia punctata type 3 [RCV000348540]|not provided [RCV000910755]|not specified [RCV000423931] Chr2:177392824 [GRCh38]
Chr2:178257552 [GRCh37]
Chr2:2q31.2		 benign|likely benign|uncertain significance
NM_003659.4(AGPS):c.*1106A>T single nucleotide variant Rhizomelic chondrodysplasia punctata type 3 [RCV000283586] Chr2:177539301 [GRCh38]
Chr2:178404029 [GRCh37]
Chr2:2q31.2		 benign|likely benign
NM_003659.4(AGPS):c.-14A>G single nucleotide variant Rhizomelic chondrodysplasia punctata type 3 [RCV000281906] Chr2:177392776 [GRCh38]
Chr2:178257504 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_003659.4(AGPS):c.1856-16G>T single nucleotide variant Rhizomelic chondrodysplasia punctata type 3 [RCV001543211]|not provided [RCV000676028]|not specified [RCV000244768] Chr2:177538058 [GRCh38]
Chr2:178402786 [GRCh37]
Chr2:2q31.2		 benign
NM_003659.4(AGPS):c.*2667G>C single nucleotide variant Rhizomelic chondrodysplasia punctata type 3 [RCV000268545] Chr2:177540862 [GRCh38]
Chr2:178405590 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_003659.4(AGPS):c.*4974T>C single nucleotide variant Rhizomelic chondrodysplasia punctata type 3 [RCV000269027] Chr2:177543169 [GRCh38]
Chr2:178407897 [GRCh37]
Chr2:2q31.2		 benign
NM_003659.4(AGPS):c.*683A>G single nucleotide variant Rhizomelic chondrodysplasia punctata type 3 [RCV000276706] Chr2:177538878 [GRCh38]
Chr2:178403606 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_003659.4(AGPS):c.*1866_*1867del deletion Rhizomelic chondrodysplasia punctata [RCV000272184] Chr2:177540061..177540062 [GRCh38]
Chr2:178404789..178404790 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_003659.4(AGPS):c.*4821C>T single nucleotide variant Rhizomelic chondrodysplasia punctata type 3 [RCV000272565] Chr2:177543016 [GRCh38]
Chr2:178407744 [GRCh37]
Chr2:2q31.2		 benign|likely benign
NM_003659.4(AGPS):c.637+13C>T single nucleotide variant Rhizomelic chondrodysplasia punctata type 3 [RCV000266679]|not provided [RCV002057609]|not specified [RCV000439188] Chr2:177437067 [GRCh38]
Chr2:178301795 [GRCh37]
Chr2:2q31.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_003659.4(AGPS):c.*4516_*4517del deletion Rhizomelic chondrodysplasia punctata [RCV000267098] Chr2:177542711..177542712 [GRCh38]
Chr2:178407439..178407440 [GRCh37]
Chr2:2q31.2		 benign
NM_003659.4(AGPS):c.*469A>T single nucleotide variant Rhizomelic chondrodysplasia punctata type 3 [RCV000299151] Chr2:177538664 [GRCh38]
Chr2:178403392 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_003659.4(AGPS):c.83A>T (p.Asp28Val) single nucleotide variant Rhizomelic chondrodysplasia punctata type 3 [RCV000352151]|not provided [RCV002521340] Chr2:177392872 [GRCh38]
Chr2:178257600 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_003659.4(AGPS):c.*3045C>T single nucleotide variant Rhizomelic chondrodysplasia punctata type 3 [RCV000373700] Chr2:177541240 [GRCh38]
Chr2:178405968 [GRCh37]
Chr2:2q31.2		 benign|uncertain significance
NM_003659.4(AGPS):c.*2091T>C single nucleotide variant Rhizomelic chondrodysplasia punctata type 3 [RCV000315041] Chr2:177540286 [GRCh38]
Chr2:178405014 [GRCh37]
Chr2:2q31.2		 benign|likely benign
NM_003659.4(AGPS):c.*4996C>T single nucleotide variant Rhizomelic chondrodysplasia punctata type 3 [RCV000333577] Chr2:177543191 [GRCh38]
Chr2:178407919 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_003659.4(AGPS):c.*865A>G single nucleotide variant Rhizomelic chondrodysplasia punctata type 3 [RCV000334045] Chr2:177539060 [GRCh38]
Chr2:178403788 [GRCh37]
Chr2:2q31.2		 benign|uncertain significance
NM_003659.4(AGPS):c.*5124C>T single nucleotide variant Rhizomelic chondrodysplasia punctata type 3 [RCV000374893] Chr2:177543319 [GRCh38]
Chr2:178408047 [GRCh37]
Chr2:2q31.2		 likely benign|uncertain significance
NM_003659.4(AGPS):c.*118A>G single nucleotide variant Rhizomelic chondrodysplasia punctata type 3 [RCV000398449] Chr2:177538313 [GRCh38]
Chr2:178403041 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_003659.4(AGPS):c.*5609G>A single nucleotide variant Rhizomelic chondrodysplasia punctata type 3 [RCV000398638] Chr2:177543804 [GRCh38]
Chr2:178408532 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_003659.4(AGPS):c.*1814_*1815insAGAA insertion Rhizomelic chondrodysplasia punctata [RCV000300781] Chr2:177540007..177540008 [GRCh38]
Chr2:178404735..178404736 [GRCh37]
Chr2:2q31.2		 benign
NM_003659.4(AGPS):c.*1866A>G single nucleotide variant Rhizomelic chondrodysplasia punctata type 3 [RCV000377269] Chr2:177540061 [GRCh38]
Chr2:178404789 [GRCh37]
Chr2:2q31.2		 benign
NM_003659.4(AGPS):c.*5453C>T single nucleotide variant Rhizomelic chondrodysplasia punctata type 3 [RCV000399413] Chr2:177543648 [GRCh38]
Chr2:178408376 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_003659.4(AGPS):c.*2730G>A single nucleotide variant Rhizomelic chondrodysplasia punctata type 3 [RCV000316634] Chr2:177540925 [GRCh38]
Chr2:178405653 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_003659.4(AGPS):c.*5159T>C single nucleotide variant Rhizomelic chondrodysplasia punctata type 3 [RCV000335930] Chr2:177543354 [GRCh38]
Chr2:178408082 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_003659.4(AGPS):c.*1628C>G single nucleotide variant Rhizomelic chondrodysplasia punctata type 3 [RCV000400801] Chr2:177539823 [GRCh38]
Chr2:178404551 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_003659.4(AGPS):c.*2088T>G single nucleotide variant Rhizomelic chondrodysplasia punctata type 3 [RCV000401255] Chr2:177540283 [GRCh38]
Chr2:178405011 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_003659.4(AGPS):c.*4098C>T single nucleotide variant Rhizomelic chondrodysplasia punctata type 3 [RCV000337343] Chr2:177542293 [GRCh38]
Chr2:178407021 [GRCh37]
Chr2:2q31.2		 benign|uncertain significance
NM_003659.4(AGPS):c.*4132A>G single nucleotide variant Rhizomelic chondrodysplasia punctata type 3 [RCV000402211] Chr2:177542327 [GRCh38]
Chr2:178407055 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_003659.4(AGPS):c.*1701T>C single nucleotide variant Rhizomelic chondrodysplasia punctata type 3 [RCV000286915] Chr2:177539896 [GRCh38]
Chr2:178404624 [GRCh37]
Chr2:2q31.2		 likely benign|uncertain significance
NM_003659.4(AGPS):c.*3381G>A single nucleotide variant Rhizomelic chondrodysplasia punctata type 3 [RCV000289682] Chr2:177541576 [GRCh38]
Chr2:178406304 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_003659.4(AGPS):c.*4618A>G single nucleotide variant Rhizomelic chondrodysplasia punctata type 3 [RCV000303493] Chr2:177542813 [GRCh38]
Chr2:178407541 [GRCh37]
Chr2:2q31.2		 benign|likely benign
NM_003659.4(AGPS):c.*2621C>T single nucleotide variant Rhizomelic chondrodysplasia punctata type 3 [RCV000303592] Chr2:177540816 [GRCh38]
Chr2:178405544 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_003659.4(AGPS):c.*921A>G single nucleotide variant Rhizomelic chondrodysplasia punctata type 3 [RCV000381608] Chr2:177539116 [GRCh38]
Chr2:178403844 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_003659.4(AGPS):c.*206T>C single nucleotide variant Rhizomelic chondrodysplasia punctata type 3 [RCV000339847] Chr2:177538401 [GRCh38]
Chr2:178403129 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_003659.4(AGPS):c.*2636G>C single nucleotide variant Rhizomelic chondrodysplasia punctata type 3 [RCV000360712] Chr2:177540831 [GRCh38]
Chr2:178405559 [GRCh37]
Chr2:2q31.2		 benign|likely benign
NM_003659.4(AGPS):c.*1364A>G single nucleotide variant Rhizomelic chondrodysplasia punctata type 3 [RCV000340877] Chr2:177539559 [GRCh38]
Chr2:178404287 [GRCh37]
Chr2:2q31.2		 benign|uncertain significance
NM_003659.4(AGPS):c.*4253C>A single nucleotide variant Rhizomelic chondrodysplasia punctata type 3 [RCV000361548] Chr2:177542448 [GRCh38]
Chr2:178407176 [GRCh37]
Chr2:2q31.2		 benign
NM_003659.4(AGPS):c.*428C>T single nucleotide variant Rhizomelic chondrodysplasia punctata type 3 [RCV000362090] Chr2:177538623 [GRCh38]
Chr2:178403351 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_003659.4(AGPS):c.*1105T>A single nucleotide variant Rhizomelic chondrodysplasia punctata type 3 [RCV000384988] Chr2:177539300 [GRCh38]
Chr2:178404028 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_003659.4(AGPS):c.*2455C>T single nucleotide variant Rhizomelic chondrodysplasia punctata type 3 [RCV000408085] Chr2:177540650 [GRCh38]
Chr2:178405378 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_003659.4(AGPS):c.*3262C>A single nucleotide variant Rhizomelic chondrodysplasia punctata type 3 [RCV000386504] Chr2:177541457 [GRCh38]
Chr2:178406185 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_003659.4(AGPS):c.*1880AT[8] microsatellite Rhizomelic chondrodysplasia punctata [RCV000292898] Chr2:177540074..177540077 [GRCh38]
Chr2:178404802..178404805 [GRCh37]
Chr2:2q31.2		 conflicting interpretations of pathogenicity
NM_003659.4(AGPS):c.*2437A>G single nucleotide variant Rhizomelic chondrodysplasia punctata type 3 [RCV000344219] Chr2:177540632 [GRCh38]
Chr2:178405360 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_003659.4(AGPS):c.*5026C>T single nucleotide variant Rhizomelic chondrodysplasia punctata type 3 [RCV000293859] Chr2:177543221 [GRCh38]
Chr2:178407949 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_003659.4(AGPS):c.*3558C>T single nucleotide variant Rhizomelic chondrodysplasia punctata type 3 [RCV000344624] Chr2:177541753 [GRCh38]
Chr2:178406481 [GRCh37]
Chr2:2q31.2		 benign
NM_003659.4(AGPS):c.1855+6C>A single nucleotide variant Rhizomelic chondrodysplasia punctata type 3 [RCV000345446]|not provided [RCV002521341]|not specified [RCV003155164] Chr2:177523811 [GRCh38]
Chr2:178388539 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_003659.4(AGPS):c.*5023C>A single nucleotide variant Rhizomelic chondrodysplasia punctata type 3 [RCV000388067]|not provided [RCV002510871] Chr2:177543218 [GRCh38]
Chr2:178407946 [GRCh37]
Chr2:2q31.2		 benign|likely benign|uncertain significance
NM_003659.4(AGPS):c.*2487C>T single nucleotide variant Rhizomelic chondrodysplasia punctata type 3 [RCV000309295] Chr2:177540682 [GRCh38]
Chr2:178405410 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_003659.4(AGPS):c.*2548A>G single nucleotide variant Rhizomelic chondrodysplasia punctata type 3 [RCV000366582] Chr2:177540743 [GRCh38]
Chr2:178405471 [GRCh37]
Chr2:2q31.2		 benign|likely benign
NM_003659.4(AGPS):c.1698-14T>C single nucleotide variant Rhizomelic chondrodysplasia punctata type 3 [RCV000389384]|not provided [RCV002057611]|not specified [RCV000607940] Chr2:177521255 [GRCh38]
Chr2:178385983 [GRCh37]
Chr2:2q31.2		 benign|likely benign|uncertain significance
NM_003659.4(AGPS):c.*3606A>G single nucleotide variant Rhizomelic chondrodysplasia punctata type 3 [RCV000389813] Chr2:177541801 [GRCh38]
Chr2:178406529 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_003659.4(AGPS):c.*3854dup duplication Rhizomelic chondrodysplasia punctata [RCV000295522] Chr2:177542041..177542042 [GRCh38]
Chr2:178406769..178406770 [GRCh37]
Chr2:2q31.2		 benign
NM_003659.4(AGPS):c.*3073A>G single nucleotide variant Rhizomelic chondrodysplasia punctata type 3 [RCV000329606] Chr2:177541268 [GRCh38]
Chr2:178405996 [GRCh37]
Chr2:2q31.2		 likely benign|uncertain significance
NM_003659.4(AGPS):c.*560T>A single nucleotide variant Rhizomelic chondrodysplasia punctata type 3 [RCV000329670] Chr2:177538755 [GRCh38]
Chr2:178403483 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_003659.4(AGPS):c.*377C>G single nucleotide variant Rhizomelic chondrodysplasia punctata type 3 [RCV000392850] Chr2:177538572 [GRCh38]
Chr2:178403300 [GRCh37]
Chr2:2q31.2		 benign|likely benign
NM_003659.4(AGPS):c.*5072T>G single nucleotide variant Rhizomelic chondrodysplasia punctata [RCV000330160] Chr2:177543267 [GRCh38]
Chr2:178407995 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_003659.4(AGPS):c.*3911AGTTTT[1] microsatellite Rhizomelic chondrodysplasia punctata [RCV000350310] Chr2:177542102..177542107 [GRCh38]
Chr2:178406830..178406835 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_003659.4(AGPS):c.*4232A>G single nucleotide variant Rhizomelic chondrodysplasia punctata type 3 [RCV000297706] Chr2:177542427 [GRCh38]
Chr2:178407155 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_003659.4(AGPS):c.891T>C (p.Cys297=) single nucleotide variant not provided [RCV000338899] Chr2:177461913 [GRCh38]
Chr2:178326641 [GRCh37]
Chr2:2q31.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_003659.4(AGPS):c.*5155C>T single nucleotide variant Rhizomelic chondrodysplasia punctata type 3 [RCV000280922] Chr2:177543350 [GRCh38]
Chr2:178408078 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_003659.4(AGPS):c.*3060A>G single nucleotide variant Rhizomelic chondrodysplasia punctata type 3 [RCV000262737] Chr2:177541255 [GRCh38]
Chr2:178405983 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_003659.4(AGPS):c.*2582C>T single nucleotide variant Rhizomelic chondrodysplasia punctata type 3 [RCV000264947] Chr2:177540777 [GRCh38]
Chr2:178405505 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_003659.4(AGPS):c.*1811_*1812insAAAA insertion Rhizomelic chondrodysplasia punctata [RCV000400527] Chr2:177540006..177540007 [GRCh38]
Chr2:178404734..178404735 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_003659.4(AGPS):c.638-7T>C single nucleotide variant not provided [RCV000292358] Chr2:177440958 [GRCh38]
Chr2:178305686 [GRCh37]
Chr2:2q31.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_003659.4(AGPS):c.1380A>C (p.Pro460=) single nucleotide variant Rhizomelic chondrodysplasia punctata type 3 [RCV001001321]|not provided [RCV000973783]|not specified [RCV000360907] Chr2:177499635 [GRCh38]
Chr2:178364363 [GRCh37]
Chr2:2q31.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_003659.4(AGPS):c.*1880AT[11] microsatellite Rhizomelic chondrodysplasia punctata [RCV000279545] Chr2:177540073..177540074 [GRCh38]
Chr2:178404801..178404802 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_003659.4(AGPS):c.*1862_*1863del deletion Rhizomelic chondrodysplasia punctata [RCV000269100] Chr2:177540056..177540057 [GRCh38]
Chr2:178404784..178404785 [GRCh37]
Chr2:2q31.2		 uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:14238-243048760)x3 copy number gain not provided [RCV000752802] Chr2:14238..243048760 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
NM_003659.4(AGPS):c.*165T>A single nucleotide variant Rhizomelic chondrodysplasia punctata type 3 [RCV000291938] Chr2:177538360 [GRCh38]
Chr2:178403088 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_003659.4(AGPS):c.*4910C>T single nucleotide variant Rhizomelic chondrodysplasia punctata type 3 [RCV000382158] Chr2:177543105 [GRCh38]
Chr2:178407833 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_003659.4(AGPS):c.*378G>A single nucleotide variant Rhizomelic chondrodysplasia punctata type 3 [RCV000305016] Chr2:177538573 [GRCh38]
Chr2:178403301 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_003659.4(AGPS):c.*1863_*1864insATGT insertion Rhizomelic chondrodysplasia punctata [RCV000364930] Chr2:177540057..177540058 [GRCh38]
Chr2:178404785..178404786 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_003659.4(AGPS):c.*1884A>G single nucleotide variant Rhizomelic chondrodysplasia punctata type 3 [RCV000350283] Chr2:177540079 [GRCh38]
Chr2:178404807 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_003659.4(AGPS):c.*1836_*1841del deletion Rhizomelic chondrodysplasia punctata [RCV000367127] Chr2:177540031..177540036 [GRCh38]
Chr2:178404759..178404764 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_003659.4(AGPS):c.*1868GT[7] microsatellite Rhizomelic chondrodysplasia punctata [RCV000320282] Chr2:177540061..177540062 [GRCh38]
Chr2:178404789..178404790 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_003659.4(AGPS):c.*1713TGA[1] microsatellite Rhizomelic chondrodysplasia punctata [RCV000334954] Chr2:177539908..177539910 [GRCh38]
Chr2:178404636..178404638 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.*641T>C single nucleotide variant Rhizomelic chondrodysplasia punctata type 3 [RCV000368030] Chr2:177538836 [GRCh38]
Chr2:178403564 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_003659.4(AGPS):c.1597C>A (p.Pro533Thr) single nucleotide variant Rhizomelic chondrodysplasia punctata type 3 [RCV000351202] Chr2:177508021 [GRCh38]
Chr2:178372749 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_003659.4(AGPS):c.*1838AT[12] microsatellite Rhizomelic chondrodysplasia punctata [RCV000407302] Chr2:177540031..177540032 [GRCh38]
Chr2:178404759..178404760 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_003659.4(AGPS):c.*1868_*1869insCG insertion Rhizomelic chondrodysplasia punctata [RCV000285569] Chr2:177540062..177540063 [GRCh38]
Chr2:178404790..178404791 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_003659.4(AGPS):c.*1860_*1861dup duplication Rhizomelic chondrodysplasia punctata [RCV000370754] Chr2:177540053..177540054 [GRCh38]
Chr2:178404781..178404782 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_003659.4(AGPS):c.870+4T>A single nucleotide variant Rhizomelic chondrodysplasia punctata type 3 [RCV000371704] Chr2:177445630 [GRCh38]
Chr2:178310358 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_003659.4(AGPS):c.*1878_*1885del deletion Rhizomelic chondrodysplasia punctata [RCV000371806] Chr2:177540072..177540079 [GRCh38]
Chr2:178404800..178404807 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_003659.4(AGPS):c.*5465C>T single nucleotide variant Rhizomelic chondrodysplasia punctata type 3 [RCV000286640] Chr2:177543660 [GRCh38]
Chr2:178408388 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_003659.4(AGPS):c.793C>T (p.Arg265Ter) single nucleotide variant Rhizomelic chondrodysplasia punctata type 3 [RCV000324114] Chr2:177445549 [GRCh38]
Chr2:178310277 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_003659.4(AGPS):c.*1878_*1883del deletion Rhizomelic chondrodysplasia punctata [RCV000324204] Chr2:177540072..177540077 [GRCh38]
Chr2:178404800..178404805 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_003659.4(AGPS):c.*513T>C single nucleotide variant Rhizomelic chondrodysplasia punctata type 3 [RCV000355247] Chr2:177538708 [GRCh38]
Chr2:178403436 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_003659.4(AGPS):c.108G>A (p.Arg36=) single nucleotide variant Rhizomelic chondrodysplasia punctata type 3 [RCV000392211] Chr2:177392897 [GRCh38]
Chr2:178257625 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_003659.4(AGPS):c.1762A>G (p.Ile588Val) single nucleotide variant Rhizomelic chondrodysplasia punctata [RCV000288111] Chr2:177521333 [GRCh38]
Chr2:178386061 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_003659.4(AGPS):c.*467_*475del deletion Rhizomelic chondrodysplasia punctata [RCV000392855] Chr2:177538659..177538667 [GRCh38]
Chr2:178403387..178403395 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_003659.4(AGPS):c.*5506T>C single nucleotide variant Rhizomelic chondrodysplasia punctata type 3 [RCV000341672] Chr2:177543701 [GRCh38]
Chr2:178408429 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_003659.4(AGPS):c.*1862_*1867del deletion Rhizomelic chondrodysplasia punctata [RCV000326618] Chr2:177540056..177540061 [GRCh38]
Chr2:178404784..178404789 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_003659.4(AGPS):c.*4660del deletion Rhizomelic chondrodysplasia punctata [RCV000358258] Chr2:177542846 [GRCh38]
Chr2:178407574 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.451A>T (p.Asn151Tyr) single nucleotide variant Rhizomelic chondrodysplasia punctata type 3 [RCV000358824] Chr2:177436773 [GRCh38]
Chr2:178301501 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_003659.4(AGPS):c.*1880AT[7] microsatellite Rhizomelic chondrodysplasia punctata [RCV000375669] Chr2:177540074..177540079 [GRCh38]
Chr2:178404802..178404807 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_003659.4(AGPS):c.*947T>G single nucleotide variant Rhizomelic chondrodysplasia punctata type 3 [RCV000289529] Chr2:177539142 [GRCh38]
Chr2:178403870 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_003659.4(AGPS):c.*3977T>G single nucleotide variant Rhizomelic chondrodysplasia punctata type 3 [RCV000301134] Chr2:177542172 [GRCh38]
Chr2:178406900 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_003659.4(AGPS):c.*4885A>G single nucleotide variant Rhizomelic chondrodysplasia punctata type 3 [RCV000327664] Chr2:177543080 [GRCh38]
Chr2:178407808 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_003659.4(AGPS):c.*1105dup duplication Rhizomelic chondrodysplasia punctata [RCV000328086] Chr2:177539292..177539293 [GRCh38]
Chr2:178404020..178404021 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_003659.4(AGPS):c.*1838AT[10] microsatellite Rhizomelic chondrodysplasia punctata [RCV000313573] Chr2:177540032..177540033 [GRCh38]
Chr2:178404760..178404761 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_003659.4(AGPS):c.86CGGACC[3] (p.29PD[3]) microsatellite Rhizomelic chondrodysplasia punctata [RCV000313816]|not provided [RCV002521339] Chr2:177392869..177392870 [GRCh38]
Chr2:178257597..178257598 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_003659.4(AGPS):c.*3953A>G single nucleotide variant Rhizomelic chondrodysplasia punctata type 3 [RCV000398358] Chr2:177542148 [GRCh38]
Chr2:178406876 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_003659.4(AGPS):c.-5_-3del deletion not provided [RCV000595983] Chr2:177392784..177392786 [GRCh38]
Chr2:178257512..178257514 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_003659.4(AGPS):c.549A>G (p.Val183=) single nucleotide variant not provided [RCV000597230] Chr2:177436871 [GRCh38]
Chr2:178301599 [GRCh37]
Chr2:2q31.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_003659.4(AGPS):c.1335C>T (p.Asp445=) single nucleotide variant Rhizomelic chondrodysplasia punctata type 3 [RCV001829640]|not provided [RCV000595433] Chr2:177497738 [GRCh38]
Chr2:178362466 [GRCh37]
Chr2:2q31.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_003659.4(AGPS):c.1607+171G>A single nucleotide variant not provided [RCV001572226] Chr2:177508202 [GRCh38]
Chr2:178372930 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.20C>T (p.Ala7Val) single nucleotide variant not provided [RCV002525363]|not specified [RCV000443317] Chr2:177392809 [GRCh38]
Chr2:178257537 [GRCh37]
Chr2:2q31.2		 likely benign|uncertain significance
GRCh37/hg19 2q31.1-35(chr2:169829974-215521436)x3 copy number gain See cases [RCV000448271] Chr2:169829974..215521436 [GRCh37]
Chr2:2q31.1-35		 pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384) copy number gain See cases [RCV000512056] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3 copy number gain See cases [RCV000511212] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
NM_003659.4(AGPS):c.1632A>G (p.Val544=) single nucleotide variant not provided [RCV001406522]|not specified [RCV000607278] Chr2:177513843 [GRCh38]
Chr2:178378571 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.7G>A (p.Glu3Lys) single nucleotide variant not provided [RCV000595030] Chr2:177392796 [GRCh38]
Chr2:178257524 [GRCh37]
Chr2:2q31.2		 uncertain significance
GRCh37/hg19 2q31.1-31.2(chr2:173741558-178416381)x1 copy number loss not provided [RCV000682153] Chr2:173741558..178416381 [GRCh37]
Chr2:2q31.1-31.2		 pathogenic
NM_003659.4(AGPS):c.1704G>A (p.Thr568=) single nucleotide variant Rhizomelic chondrodysplasia punctata type 3 [RCV001132328]|not provided [RCV000676027] Chr2:177521275 [GRCh38]
Chr2:178386003 [GRCh37]
Chr2:2q31.2		 benign
NM_003659.4(AGPS):c.441+77T>G single nucleotide variant not provided [RCV001574693] Chr2:177434494 [GRCh38]
Chr2:178299222 [GRCh37]
Chr2:2q31.2		 likely benign
GRCh37/hg19 2p25.3-q37.3(chr2:15672-243101834)x3 copy number gain not provided [RCV000752804] Chr2:15672..243101834 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
GRCh37/hg19 2q23.3-31.2(chr2:152409978-179325736)x3 copy number gain not provided [RCV000740654] Chr2:152409978..179325736 [GRCh37]
Chr2:2q23.3-31.2		 pathogenic
GRCh37/hg19 2q31.1-31.3(chr2:174238257-181604341)x1 copy number loss not provided [RCV000740710] Chr2:174238257..181604341 [GRCh37]
Chr2:2q31.1-31.3		 pathogenic
NM_003659.4(AGPS):c.790-9T>C single nucleotide variant not provided [RCV000976999] Chr2:177445537 [GRCh38]
Chr2:178310265 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.871-129dup duplication not provided [RCV001680038] Chr2:177461748..177461749 [GRCh38]
Chr2:178326476..178326477 [GRCh37]
Chr2:2q31.2		 benign
NM_003659.4(AGPS):c.442-64C>T single nucleotide variant Rhizomelic chondrodysplasia punctata type 3 [RCV001543208]|not provided [RCV001707899] Chr2:177436700 [GRCh38]
Chr2:178301428 [GRCh37]
Chr2:2q31.2		 benign
NM_003659.4(AGPS):c.996+101G>A single nucleotide variant not provided [RCV001645149] Chr2:177462119 [GRCh38]
Chr2:178326847 [GRCh37]
Chr2:2q31.2		 benign
NM_003659.4(AGPS):c.1855+85T>C single nucleotide variant not provided [RCV001567114] Chr2:177523890 [GRCh38]
Chr2:178388618 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.1665G>A (p.Lys555=) single nucleotide variant Rhizomelic chondrodysplasia punctata type 3 [RCV001132327]|not provided [RCV001440144] Chr2:177513876 [GRCh38]
Chr2:178378604 [GRCh37]
Chr2:2q31.2		 likely benign|uncertain significance
NM_003659.4(AGPS):c.*1858A>G single nucleotide variant Rhizomelic chondrodysplasia punctata type 3 [RCV001132429] Chr2:177540053 [GRCh38]
Chr2:178404781 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_003659.4(AGPS):c.1546-159G>C single nucleotide variant not provided [RCV001545998] Chr2:177507811 [GRCh38]
Chr2:178372539 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.1106-129_1106-120del deletion not provided [RCV001708028] Chr2:177481927..177481936 [GRCh38]
Chr2:178346655..178346664 [GRCh37]
Chr2:2q31.2		 benign
NM_003659.4(AGPS):c.870+227G>A single nucleotide variant not provided [RCV001547082] Chr2:177445853 [GRCh38]
Chr2:178310581 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.*4255T>G single nucleotide variant Rhizomelic chondrodysplasia punctata type 3 [RCV001134941] Chr2:177542450 [GRCh38]
Chr2:178407178 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.64G>A (p.Ala22Thr) single nucleotide variant Inborn genetic diseases [RCV002556854]|Rhizomelic chondrodysplasia punctata type 3 [RCV001133139]|not provided [RCV002556855] Chr2:177392853 [GRCh38]
Chr2:178257581 [GRCh37]
Chr2:2q31.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_003659.4(AGPS):c.*377C>T single nucleotide variant Rhizomelic chondrodysplasia punctata type 3 [RCV001133258] Chr2:177538572 [GRCh38]
Chr2:178403300 [GRCh37]
Chr2:2q31.2		 benign
NM_003659.4(AGPS):c.*731A>G single nucleotide variant Rhizomelic chondrodysplasia punctata type 3 [RCV001134716] Chr2:177538926 [GRCh38]
Chr2:178403654 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_003659.4(AGPS):c.148C>T (p.Arg50Trp) single nucleotide variant Rhizomelic chondrodysplasia punctata [RCV001276316]|Rhizomelic chondrodysplasia punctata type 3 [RCV001002207]|not provided [RCV000973782] Chr2:177392937 [GRCh38]
Chr2:178257665 [GRCh37]
Chr2:2q31.2		 benign|likely benign|uncertain significance
NM_003659.4(AGPS):c.54C>T (p.Ser18=) single nucleotide variant Rhizomelic chondrodysplasia punctata type 3 [RCV001276314]|not provided [RCV000924147] Chr2:177392843 [GRCh38]
Chr2:178257571 [GRCh37]
Chr2:2q31.2		 likely benign|uncertain significance
NM_003659.4(AGPS):c.1713C>T (p.Tyr571=) single nucleotide variant Rhizomelic chondrodysplasia punctata type 3 [RCV001276321]|not provided [RCV000944429] Chr2:177521284 [GRCh38]
Chr2:178386012 [GRCh37]
Chr2:2q31.2		 likely benign|uncertain significance
NM_003659.4(AGPS):c.228C>T (p.Ala76=) single nucleotide variant not provided [RCV000927853] Chr2:177393017 [GRCh38]
Chr2:178257745 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.1086C>T (p.His362=) single nucleotide variant AGPS-related condition [RCV003905945]|Rhizomelic chondrodysplasia punctata [RCV001276320]|not provided [RCV000968299] Chr2:177468505 [GRCh38]
Chr2:178333233 [GRCh37]
Chr2:2q31.2		 likely benign|uncertain significance
NM_003659.4(AGPS):c.1341A>T (p.Leu447Phe) single nucleotide variant not provided [RCV002001516] Chr2:177497744 [GRCh38]
Chr2:178362472 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_003659.4(AGPS):c.441+10C>T single nucleotide variant not provided [RCV000942782] Chr2:177434427 [GRCh38]
Chr2:178299155 [GRCh37]
Chr2:2q31.2		 likely benign
GRCh37/hg19 2q31.1-31.2(chr2:176794846-178494259) copy number loss not provided [RCV000767781] Chr2:176794846..178494259 [GRCh37]
Chr2:2q31.1-31.2		 pathogenic
NM_003659.4(AGPS):c.435C>G (p.Thr145=) single nucleotide variant AGPS-related condition [RCV003920821]|not provided [RCV000894585] Chr2:177434411 [GRCh38]
Chr2:178299139 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.260+10G>C single nucleotide variant not provided [RCV000975590] Chr2:177393059 [GRCh38]
Chr2:178257787 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.1519C>T (p.Leu507=) single nucleotide variant Rhizomelic chondrodysplasia punctata type 3 [RCV001129587]|not provided [RCV000942265] Chr2:177505549 [GRCh38]
Chr2:178370277 [GRCh37]
Chr2:2q31.2		 likely benign|uncertain significance
NM_003659.4(AGPS):c.1908T>C (p.Phe636=) single nucleotide variant Rhizomelic chondrodysplasia punctata type 3 [RCV001132329]|not provided [RCV000983172] Chr2:177538126 [GRCh38]
Chr2:178402854 [GRCh37]
Chr2:2q31.2		 likely benign|uncertain significance
NM_003659.4(AGPS):c.351-5_351-4dup duplication not provided [RCV000978312] Chr2:177434321..177434322 [GRCh38]
Chr2:178299049..178299050 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.921C>T (p.Phe307=) single nucleotide variant Rhizomelic chondrodysplasia punctata type 3 [RCV001276318]|not provided [RCV000906532] Chr2:177461943 [GRCh38]
Chr2:178326671 [GRCh37]
Chr2:2q31.2		 likely benign|uncertain significance
NM_003659.4(AGPS):c.1106-213T>G single nucleotide variant not provided [RCV000831178] Chr2:177481846 [GRCh38]
Chr2:178346574 [GRCh37]
Chr2:2q31.2		 benign
NM_003659.4(AGPS):c.1856-15A>T single nucleotide variant not provided [RCV000842451] Chr2:177538059 [GRCh38]
Chr2:178402787 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.351-194G>A single nucleotide variant not provided [RCV000843933] Chr2:177434133 [GRCh38]
Chr2:178298861 [GRCh37]
Chr2:2q31.2		 benign
NM_003659.4(AGPS):c.442-325T>C single nucleotide variant not provided [RCV000843934] Chr2:177436439 [GRCh38]
Chr2:178301167 [GRCh37]
Chr2:2q31.2		 benign
NM_003659.4(AGPS):c.1029T>C (p.Gly343=) single nucleotide variant AGPS-related condition [RCV003978007]|Rhizomelic chondrodysplasia punctata type 3 [RCV001276319]|not provided [RCV000916067] Chr2:177468448 [GRCh38]
Chr2:178333176 [GRCh37]
Chr2:2q31.2		 likely benign|uncertain significance
GRCh37/hg19 2q31.1-32.1(chr2:173538954-186401606)x1 copy number loss not provided [RCV000846537] Chr2:173538954..186401606 [GRCh37]
Chr2:2q31.1-32.1		 pathogenic
GRCh37/hg19 2q31.1-31.2(chr2:176310551-179092634)x1 copy number loss not provided [RCV000849015] Chr2:176310551..179092634 [GRCh37]
Chr2:2q31.1-31.2		 pathogenic
NM_003659.3(AGPS):c.-127G>A single nucleotide variant not provided [RCV000834353] Chr2:177392663 [GRCh38]
Chr2:178257391 [GRCh37]
Chr2:2q31.2		 benign
GRCh37/hg19 2q24.3-32.3(chr2:167329586-192756373)x1 copy number loss not provided [RCV000848216] Chr2:167329586..192756373 [GRCh37]
Chr2:2q24.3-32.3		 pathogenic
NM_003659.4(AGPS):c.*4100A>G single nucleotide variant Rhizomelic chondrodysplasia punctata type 3 [RCV001133449] Chr2:177542295 [GRCh38]
Chr2:178407023 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_003659.4(AGPS):c.*3894A>G single nucleotide variant Rhizomelic chondrodysplasia punctata type 3 [RCV001132523] Chr2:177542089 [GRCh38]
Chr2:178406817 [GRCh37]
Chr2:2q31.2		 benign
NM_003659.4(AGPS):c.*361C>T single nucleotide variant Rhizomelic chondrodysplasia punctata type 3 [RCV001133257] Chr2:177538556 [GRCh38]
Chr2:178403284 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_003659.4(AGPS):c.*1880A>G single nucleotide variant Rhizomelic chondrodysplasia punctata type 3 [RCV001133345] Chr2:177540075 [GRCh38]
Chr2:178404803 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_003659.4(AGPS):c.*4056T>C single nucleotide variant Rhizomelic chondrodysplasia punctata type 3 [RCV001133448] Chr2:177542251 [GRCh38]
Chr2:178406979 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_003659.4(AGPS):c.14C>T (p.Ala5Val) single nucleotide variant Rhizomelic chondrodysplasia punctata [RCV001279420]|Rhizomelic chondrodysplasia punctata type 3 [RCV001132210] Chr2:177392803 [GRCh38]
Chr2:178257531 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_003659.4(AGPS):c.*1744A>G single nucleotide variant Rhizomelic chondrodysplasia punctata type 3 [RCV001132428] Chr2:177539939 [GRCh38]
Chr2:178404667 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_003659.4(AGPS):c.*2318A>G single nucleotide variant Rhizomelic chondrodysplasia punctata type 3 [RCV001134816] Chr2:177540513 [GRCh38]
Chr2:178405241 [GRCh37]
Chr2:2q31.2		 uncertain significance
NC_000002.12:g.177420264A>C single nucleotide variant not provided [RCV000836146] Chr2:178284992 [GRCh37]
Chr2:2q31.2		 benign
NM_003659.3(AGPS):c.-304G>A single nucleotide variant not provided [RCV000843929] Chr2:177392486 [GRCh38]
Chr2:178257214 [GRCh37]
Chr2:2q31.2		 benign
NM_003659.4(AGPS):c.637+275A>G single nucleotide variant not provided [RCV000843936] Chr2:177437329 [GRCh38]
Chr2:178302057 [GRCh37]
Chr2:2q31.2		 benign
NM_003659.4(AGPS):c.638-256A>G single nucleotide variant not provided [RCV000843937] Chr2:177440709 [GRCh38]
Chr2:178305437 [GRCh37]
Chr2:2q31.2		 benign
NM_003659.4(AGPS):c.996+206A>G single nucleotide variant not provided [RCV000843953] Chr2:177462224 [GRCh38]
Chr2:178326952 [GRCh37]
Chr2:2q31.2		 benign
NM_003659.4(AGPS):c.1234-232_1234-231insAAA insertion not provided [RCV000843955] Chr2:177492916..177492917 [GRCh38]
Chr2:178357644..178357645 [GRCh37]
Chr2:2q31.2		 benign
NM_003659.4(AGPS):c.1234-231G>C single nucleotide variant not provided [RCV000843957] Chr2:177492917 [GRCh38]
Chr2:178357645 [GRCh37]
Chr2:2q31.2		 benign
NM_003659.4(AGPS):c.1285+145C>T single nucleotide variant not provided [RCV000843958] Chr2:177493344 [GRCh38]
Chr2:178358072 [GRCh37]
Chr2:2q31.2		 benign
NM_003659.4(AGPS):c.1285+306G>T single nucleotide variant not provided [RCV000843960] Chr2:177493505 [GRCh38]
Chr2:178358233 [GRCh37]
Chr2:2q31.2		 benign
NM_003659.4(AGPS):c.1476-194T>C single nucleotide variant not provided [RCV000843962] Chr2:177505312 [GRCh38]
Chr2:178370040 [GRCh37]
Chr2:2q31.2		 benign
NM_003659.4(AGPS):c.1798-312T>G single nucleotide variant not provided [RCV000843963] Chr2:177523436 [GRCh38]
Chr2:178388164 [GRCh37]
Chr2:2q31.2		 benign
NM_003659.4(AGPS):c.157C>T (p.Leu53=) single nucleotide variant Rhizomelic chondrodysplasia punctata type 3 [RCV001133140]|not provided [RCV000938068] Chr2:177392946 [GRCh38]
Chr2:178257674 [GRCh37]
Chr2:2q31.2		 benign|likely benign
NM_003659.4(AGPS):c.*794C>T single nucleotide variant Rhizomelic chondrodysplasia punctata type 3 [RCV001134717] Chr2:177538989 [GRCh38]
Chr2:178403717 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_003659.4(AGPS):c.*823T>A single nucleotide variant Rhizomelic chondrodysplasia punctata type 3 [RCV001134718] Chr2:177539018 [GRCh38]
Chr2:178403746 [GRCh37]
Chr2:2q31.2		 uncertain significance
GRCh37/hg19 2q24.2-34(chr2:163233162-211927188)x3 copy number gain not provided [RCV001005349] Chr2:163233162..211927188 [GRCh37]
Chr2:2q24.2-34		 pathogenic
NM_003659.4(AGPS):c.*1882A>G single nucleotide variant Rhizomelic chondrodysplasia punctata type 3 [RCV001133346] Chr2:177540077 [GRCh38]
Chr2:178404805 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_003659.4(AGPS):c.*3931A>G single nucleotide variant Rhizomelic chondrodysplasia punctata type 3 [RCV001133446] Chr2:177542126 [GRCh38]
Chr2:178406854 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_003659.4(AGPS):c.1475+12A>G single nucleotide variant Rhizomelic chondrodysplasia punctata type 3 [RCV001129586]|not provided [RCV002070515] Chr2:177499742 [GRCh38]
Chr2:178364470 [GRCh37]
Chr2:2q31.2		 benign|uncertain significance
NM_003659.4(AGPS):c.*4780G>A single nucleotide variant Rhizomelic chondrodysplasia punctata type 3 [RCV001129915] Chr2:177542975 [GRCh38]
Chr2:178407703 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_003659.4(AGPS):c.*1312T>C single nucleotide variant Rhizomelic chondrodysplasia punctata type 3 [RCV001129721] Chr2:177539507 [GRCh38]
Chr2:178404235 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_003659.4(AGPS):c.*1469T>G single nucleotide variant Rhizomelic chondrodysplasia punctata type 3 [RCV001132426] Chr2:177539664 [GRCh38]
Chr2:178404392 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_003659.4(AGPS):c.*1865C>T single nucleotide variant Rhizomelic chondrodysplasia punctata type 3 [RCV001133343] Chr2:177540060 [GRCh38]
Chr2:178404788 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_003659.4(AGPS):c.*2311G>A single nucleotide variant Rhizomelic chondrodysplasia punctata type 3 [RCV001134815] Chr2:177540506 [GRCh38]
Chr2:178405234 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_003659.4(AGPS):c.*4674A>G single nucleotide variant Rhizomelic chondrodysplasia punctata type 3 [RCV001134943] Chr2:177542869 [GRCh38]
Chr2:178407597 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_003659.4(AGPS):c.194C>T (p.Ser65Leu) single nucleotide variant Inborn genetic diseases [RCV003291879] Chr2:177392983 [GRCh38]
Chr2:178257711 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_003659.4(AGPS):c.1658_1659del (p.Lys553fs) deletion Rhizomelic chondrodysplasia punctata [RCV003230992] Chr2:177513868..177513869 [GRCh38]
Chr2:178378596..178378597 [GRCh37]
Chr2:2q31.2		 likely pathogenic
NM_003659.4(AGPS):c.442-88G>A single nucleotide variant not provided [RCV001577478] Chr2:177436676 [GRCh38]
Chr2:178301404 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.1678G>C (p.Ala560Pro) single nucleotide variant Rhizomelic chondrodysplasia punctata type 3 [RCV001559278] Chr2:177513889 [GRCh38]
Chr2:178378617 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_003659.4(AGPS):c.351-198T>G single nucleotide variant not provided [RCV001560320] Chr2:177434129 [GRCh38]
Chr2:178298857 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.261-175T>C single nucleotide variant not provided [RCV001576543] Chr2:177420094 [GRCh38]
Chr2:178284822 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.1234-228T>C single nucleotide variant not provided [RCV001561413] Chr2:177492920 [GRCh38]
Chr2:178357648 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.350+203TA[6] microsatellite not provided [RCV001550965] Chr2:177420560..177420561 [GRCh38]
Chr2:178285288..178285289 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.350+95G>A single nucleotide variant not provided [RCV001710824] Chr2:177420453 [GRCh38]
Chr2:178285181 [GRCh37]
Chr2:2q31.2		 benign
NM_003659.4(AGPS):c.871-129del deletion not provided [RCV001683819] Chr2:177461749 [GRCh38]
Chr2:178326477 [GRCh37]
Chr2:2q31.2		 benign
NM_003659.4(AGPS):c.1363-345C>G single nucleotide variant not provided [RCV001599037] Chr2:177499273 [GRCh38]
Chr2:178364001 [GRCh37]
Chr2:2q31.2		 benign
NM_003659.4(AGPS):c.186A>G (p.Arg62=) single nucleotide variant Rhizomelic chondrodysplasia punctata [RCV001276317]|not provided [RCV000885299] Chr2:177392975 [GRCh38]
Chr2:178257703 [GRCh37]
Chr2:2q31.2		 benign|uncertain significance
NM_003659.4(AGPS):c.75G>A (p.Arg25=) single nucleotide variant not provided [RCV000975572] Chr2:177392864 [GRCh38]
Chr2:178257592 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.1569A>G (p.Val523=) single nucleotide variant Rhizomelic chondrodysplasia punctata type 3 [RCV001129588]|not provided [RCV000923796] Chr2:177507993 [GRCh38]
Chr2:178372721 [GRCh37]
Chr2:2q31.2		 likely benign|uncertain significance
NM_003659.4(AGPS):c.1209C>T (p.Ala403=) single nucleotide variant Rhizomelic chondrodysplasia punctata type 3 [RCV001826960]|not provided [RCV000932773] Chr2:177482162 [GRCh38]
Chr2:178346890 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.997-9A>G single nucleotide variant not provided [RCV000976218] Chr2:177468407 [GRCh38]
Chr2:178333135 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.951C>T (p.Arg317=) single nucleotide variant Rhizomelic chondrodysplasia punctata type 3 [RCV001825842]|not provided [RCV000916551] Chr2:177461973 [GRCh38]
Chr2:178326701 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.1856-4C>G single nucleotide variant not provided [RCV000979518] Chr2:177538070 [GRCh38]
Chr2:178402798 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.*1719G>A single nucleotide variant Rhizomelic chondrodysplasia punctata type 3 [RCV001132427] Chr2:177539914 [GRCh38]
Chr2:178404642 [GRCh37]
Chr2:2q31.2		 benign
NM_003659.4(AGPS):c.*3524T>C single nucleotide variant Rhizomelic chondrodysplasia punctata type 3 [RCV001132522] Chr2:177541719 [GRCh38]
Chr2:178406447 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_003659.4(AGPS):c.*385G>C single nucleotide variant Rhizomelic chondrodysplasia punctata type 3 [RCV001133259] Chr2:177538580 [GRCh38]
Chr2:178403308 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.*1869T>C single nucleotide variant Rhizomelic chondrodysplasia punctata type 3 [RCV001133344] Chr2:177540064 [GRCh38]
Chr2:178404792 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_003659.4(AGPS):c.774G>A (p.Leu258=) single nucleotide variant Rhizomelic chondrodysplasia punctata type 3 [RCV001134614] Chr2:177442471 [GRCh38]
Chr2:178307199 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_003659.4(AGPS):c.1536A>T (p.Ala512=) single nucleotide variant Rhizomelic chondrodysplasia punctata type 3 [RCV001825797]|not provided [RCV000891453] Chr2:177505566 [GRCh38]
Chr2:178370294 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.1476-238_1476-235del deletion not provided [RCV001559752] Chr2:177505266..177505269 [GRCh38]
Chr2:178369994..178369997 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.1475+33G>C single nucleotide variant not provided [RCV001717832] Chr2:177499763 [GRCh38]
Chr2:178364491 [GRCh37]
Chr2:2q31.2		 benign
NM_003659.4(AGPS):c.1105+339G>A single nucleotide variant not provided [RCV001553397] Chr2:177468863 [GRCh38]
Chr2:178333591 [GRCh37]
Chr2:2q31.2		 likely benign
GRCh37/hg19 2q24.2-31.3(chr2:163078055-182119617)x1 copy number loss 2q24 microdeletion syndrome [RCV001263223] Chr2:163078055..182119617 [GRCh37]
Chr2:2q24.2-31.3		 pathogenic
GRCh37/hg19 2q31.1-32.3(chr2:174690039-195521582)x1 copy number loss not provided [RCV001005359] Chr2:174690039..195521582 [GRCh37]
Chr2:2q31.1-32.3		 pathogenic
NM_003659.4(AGPS):c.871-151A>G single nucleotide variant not provided [RCV001620629] Chr2:177461742 [GRCh38]
Chr2:178326470 [GRCh37]
Chr2:2q31.2		 benign
NM_003659.4(AGPS):c.996+92C>G single nucleotide variant not provided [RCV001686186] Chr2:177462110 [GRCh38]
Chr2:178326838 [GRCh37]
Chr2:2q31.2		 benign
NM_003659.4(AGPS):c.1797+99C>T single nucleotide variant not provided [RCV001594159] Chr2:177521467 [GRCh38]
Chr2:178386195 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.996+148G>A single nucleotide variant not provided [RCV001595126] Chr2:177462166 [GRCh38]
Chr2:178326894 [GRCh37]
Chr2:2q31.2		 benign
NM_003659.4(AGPS):c.1135A>G (p.Ile379Val) single nucleotide variant Rhizomelic chondrodysplasia punctata type 3 [RCV001000842] Chr2:177482088 [GRCh38]
Chr2:178346816 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_003659.4(AGPS):c.*2833G>T single nucleotide variant Rhizomelic chondrodysplasia punctata type 3 [RCV001129834] Chr2:177541028 [GRCh38]
Chr2:178405756 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_003659.4(AGPS):c.789+116C>T single nucleotide variant not provided [RCV001714757] Chr2:177442602 [GRCh38]
Chr2:178307330 [GRCh37]
Chr2:2q31.2		 benign
NM_003659.4(AGPS):c.260+62A>C single nucleotide variant not provided [RCV001671984] Chr2:177393111 [GRCh38]
Chr2:178257839 [GRCh37]
Chr2:2q31.2		 benign
NM_003659.4(AGPS):c.1234-39A>G single nucleotide variant not provided [RCV001692521] Chr2:177493109 [GRCh38]
Chr2:178357837 [GRCh37]
Chr2:2q31.2		 benign
NR_026966.1(LOC100130691):n.61C>T single nucleotide variant not provided [RCV001589835] Chr2:177392631 [GRCh38]
Chr2:178257359 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.996+257C>T single nucleotide variant not provided [RCV001584889] Chr2:177462275 [GRCh38]
Chr2:178327003 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.1545+125C>T single nucleotide variant not provided [RCV001612402] Chr2:177505700 [GRCh38]
Chr2:178370428 [GRCh37]
Chr2:2q31.2		 benign
NM_003659.4(AGPS):c.1476-21_1476-20del deletion not provided [RCV001648386] Chr2:177505484..177505485 [GRCh38]
Chr2:178370212..178370213 [GRCh37]
Chr2:2q31.2		 benign
NM_003659.4(AGPS):c.1545+77T>A single nucleotide variant not provided [RCV001640963] Chr2:177505652 [GRCh38]
Chr2:178370380 [GRCh37]
Chr2:2q31.2		 benign
NM_003659.4(AGPS):c.1362+44A>G single nucleotide variant not provided [RCV001663354] Chr2:177497809 [GRCh38]
Chr2:178362537 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.350+215A>G single nucleotide variant not provided [RCV001587988] Chr2:177420573 [GRCh38]
Chr2:178285301 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.*1073T>C single nucleotide variant Rhizomelic chondrodysplasia punctata type 3 [RCV001129719] Chr2:177539268 [GRCh38]
Chr2:178403996 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_003659.4(AGPS):c.*1238T>C single nucleotide variant Rhizomelic chondrodysplasia punctata type 3 [RCV001129720] Chr2:177539433 [GRCh38]
Chr2:178404161 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_003659.4(AGPS):c.260+324T>C single nucleotide variant not provided [RCV001710369] Chr2:177393373 [GRCh38]
Chr2:178258101 [GRCh37]
Chr2:2q31.2		 benign
NM_003659.4(AGPS):c.*4228A>C single nucleotide variant Rhizomelic chondrodysplasia punctata type 3 [RCV001134940] Chr2:177542423 [GRCh38]
Chr2:178407151 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_003659.4(AGPS):c.1244C>T (p.Pro415Leu) single nucleotide variant Inborn genetic diseases [RCV003259112]|Rhizomelic chondrodysplasia punctata type 3 [RCV001129585]|not provided [RCV002556824] Chr2:177493158 [GRCh38]
Chr2:178357886 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_003659.4(AGPS):c.*1860G>A single nucleotide variant Rhizomelic chondrodysplasia punctata type 3 [RCV001132430] Chr2:177540055 [GRCh38]
Chr2:178404783 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_003659.4(AGPS):c.544C>T (p.Arg182Ter) single nucleotide variant Rhizomelic chondrodysplasia punctata type 3 [RCV003469364]|not provided [RCV001214616] Chr2:177436866 [GRCh38]
Chr2:178301594 [GRCh37]
Chr2:2q31.2		 pathogenic|likely pathogenic
NM_003659.4(AGPS):c.*1424G>A single nucleotide variant Rhizomelic chondrodysplasia punctata type 3 [RCV001132425] Chr2:177539619 [GRCh38]
Chr2:178404347 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_003659.4(AGPS):c.*3971A>G single nucleotide variant Rhizomelic chondrodysplasia punctata type 3 [RCV001133447] Chr2:177542166 [GRCh38]
Chr2:178406894 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_003659.4(AGPS):c.*4625C>T single nucleotide variant Rhizomelic chondrodysplasia punctata type 3 [RCV001134942] Chr2:177542820 [GRCh38]
Chr2:178407548 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_003659.4(AGPS):c.*4788G>T single nucleotide variant Rhizomelic chondrodysplasia punctata type 3 [RCV001129916] Chr2:177542983 [GRCh38]
Chr2:178407711 [GRCh37]
Chr2:2q31.2		 uncertain significance
GRCh37/hg19 2q31.2-37.3(chr2:178397959-243007457)x3 copy number gain See cases [RCV001263052] Chr2:178397959..243007457 [GRCh37]
Chr2:2q31.2-37.3		 pathogenic
GRCh37/hg19 2q31.1-31.2(chr2:177542722-179538238)x3 copy number gain not provided [RCV001258562] Chr2:177542722..179538238 [GRCh37]
Chr2:2q31.1-31.2		 uncertain significance
NM_003659.4(AGPS):c.712G>A (p.Gly238Arg) single nucleotide variant not provided [RCV001303086] Chr2:177442409 [GRCh38]
Chr2:178307137 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_003659.4(AGPS):c.57C>T (p.Tyr19=) single nucleotide variant Rhizomelic chondrodysplasia punctata [RCV001279422]|not provided [RCV002069460] Chr2:177392846 [GRCh38]
Chr2:178257574 [GRCh37]
Chr2:2q31.2		 likely benign|uncertain significance
NM_003659.4(AGPS):c.197C>T (p.Ala66Val) single nucleotide variant Rhizomelic chondrodysplasia punctata [RCV001279423] Chr2:177392986 [GRCh38]
Chr2:178257714 [GRCh37]
Chr2:2q31.2		 uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373) copy number gain Mosaic trisomy 2 [RCV002280628] Chr2:1..243199373 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
NM_003659.4(AGPS):c.51G>T (p.Ala17=) single nucleotide variant not provided [RCV001423016] Chr2:177392840 [GRCh38]
Chr2:178257568 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.563-10del deletion Rhizomelic chondrodysplasia punctata type 3 [RCV001289657]|not provided [RCV002070101] Chr2:177436969 [GRCh38]
Chr2:178301697 [GRCh37]
Chr2:2q31.2		 benign
NM_003659.4(AGPS):c.200C>T (p.Ala67Val) single nucleotide variant Rhizomelic chondrodysplasia punctata [RCV001279424] Chr2:177392989 [GRCh38]
Chr2:178257717 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_003659.4(AGPS):c.1376A>G (p.Asp459Gly) single nucleotide variant Rhizomelic chondrodysplasia punctata [RCV001279432] Chr2:177499631 [GRCh38]
Chr2:178364359 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_003659.4(AGPS):c.1566T>C (p.Tyr522=) single nucleotide variant Rhizomelic chondrodysplasia punctata [RCV001279434]|not provided [RCV001480737] Chr2:177507990 [GRCh38]
Chr2:178372718 [GRCh37]
Chr2:2q31.2		 likely benign|uncertain significance
NM_003659.4(AGPS):c.1874A>C (p.Gln625Pro) single nucleotide variant Rhizomelic chondrodysplasia punctata [RCV001279435] Chr2:177538092 [GRCh38]
Chr2:178402820 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_003659.4(AGPS):c.1452G>A (p.Val484=) single nucleotide variant not provided [RCV001423112] Chr2:177499707 [GRCh38]
Chr2:178364435 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.1273C>T (p.Gln425Ter) single nucleotide variant Rhizomelic chondrodysplasia punctata type 3 [RCV001334160] Chr2:177493187 [GRCh38]
Chr2:178357915 [GRCh37]
Chr2:2q31.2		 pathogenic
NM_003659.4(AGPS):c.40G>T (p.Gly14Cys) single nucleotide variant Rhizomelic chondrodysplasia punctata [RCV001279421] Chr2:177392829 [GRCh38]
Chr2:178257557 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_003659.4(AGPS):c.258G>A (p.Lys86=) single nucleotide variant Rhizomelic chondrodysplasia punctata [RCV001279426]|not provided [RCV001438549] Chr2:177393047 [GRCh38]
Chr2:178257775 [GRCh37]
Chr2:2q31.2		 likely benign|uncertain significance
NM_003659.4(AGPS):c.582A>G (p.Ile194Met) single nucleotide variant Rhizomelic chondrodysplasia punctata [RCV001279428] Chr2:177436999 [GRCh38]
Chr2:178301727 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_003659.4(AGPS):c.952G>A (p.Ala318Thr) single nucleotide variant Rhizomelic chondrodysplasia punctata [RCV001279430] Chr2:177461974 [GRCh38]
Chr2:178326702 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_003659.4(AGPS):c.895G>A (p.Gly299Ser) single nucleotide variant not provided [RCV001337691] Chr2:177461917 [GRCh38]
Chr2:178326645 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_003659.4(AGPS):c.1037_1043del (p.Glu346fs) deletion Rhizomelic chondrodysplasia punctata type 3 [RCV001449736] Chr2:177468454..177468460 [GRCh38]
Chr2:178333182..178333188 [GRCh37]
Chr2:2q31.2		 likely pathogenic
NM_003659.4(AGPS):c.231G>A (p.Ala77=) single nucleotide variant Rhizomelic chondrodysplasia punctata [RCV001279425]|not provided [RCV001480002] Chr2:177393020 [GRCh38]
Chr2:178257748 [GRCh37]
Chr2:2q31.2		 likely benign|uncertain significance
NM_003659.4(AGPS):c.870G>A (p.Gln290=) single nucleotide variant Rhizomelic chondrodysplasia punctata [RCV001279429]|not provided [RCV001315420] Chr2:177445626 [GRCh38]
Chr2:178310354 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_003659.4(AGPS):c.1245G>A (p.Pro415=) single nucleotide variant Rhizomelic chondrodysplasia punctata [RCV001279431]|Rhizomelic chondrodysplasia punctata type 3 [RCV002493494]|not provided [RCV001513987] Chr2:177493159 [GRCh38]
Chr2:178357887 [GRCh37]
Chr2:2q31.2		 benign|likely benign|uncertain significance
NM_003659.4(AGPS):c.354C>T (p.Tyr118=) single nucleotide variant Rhizomelic chondrodysplasia punctata [RCV001279427]|not provided [RCV001448003] Chr2:177434330 [GRCh38]
Chr2:178299058 [GRCh37]
Chr2:2q31.2		 likely benign|uncertain significance
NM_003659.4(AGPS):c.1437A>G (p.Gln479=) single nucleotide variant AGPS-related condition [RCV003938596]|Rhizomelic chondrodysplasia punctata [RCV001279433]|not provided [RCV001413971] Chr2:177499692 [GRCh38]
Chr2:178364420 [GRCh37]
Chr2:2q31.2		 likely benign|uncertain significance
NM_003659.4(AGPS):c.996+7A>G single nucleotide variant not provided [RCV001421314] Chr2:177462025 [GRCh38]
Chr2:178326753 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.45G>C (p.Ala15=) single nucleotide variant not provided [RCV001421349] Chr2:177392834 [GRCh38]
Chr2:178257562 [GRCh37]
Chr2:2q31.2		 likely benign
GRCh37/hg19 2q31.1-31.3(chr2:171999572-182774361) copy number loss 3-4 finger syndactyly [RCV001352646] Chr2:171999572..182774361 [GRCh37]
Chr2:2q31.1-31.3		 pathogenic
NM_003659.4(AGPS):c.975C>A (p.Ile325=) single nucleotide variant not provided [RCV001504627] Chr2:177461997 [GRCh38]
Chr2:178326725 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.1779C>T (p.Thr593=) single nucleotide variant not provided [RCV001467212] Chr2:177521350 [GRCh38]
Chr2:178386078 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.327C>T (p.Gly109=) single nucleotide variant not provided [RCV001473592] Chr2:177420335 [GRCh38]
Chr2:178285063 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.1140A>G (p.Lys380=) single nucleotide variant not provided [RCV001475361] Chr2:177482093 [GRCh38]
Chr2:178346821 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.1170T>C (p.Tyr390=) single nucleotide variant not provided [RCV001467436] Chr2:177482123 [GRCh38]
Chr2:178346851 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.360T>C (p.Leu120=) single nucleotide variant not provided [RCV001480176] Chr2:177434336 [GRCh38]
Chr2:178299064 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.1629T>C (p.Asn543=) single nucleotide variant not provided [RCV001483959] Chr2:177513840 [GRCh38]
Chr2:178378568 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.1855+10T>C single nucleotide variant not provided [RCV001483172] Chr2:177523815 [GRCh38]
Chr2:178388543 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.240G>T (p.Ser80=) single nucleotide variant not provided [RCV001466011] Chr2:177393029 [GRCh38]
Chr2:178257757 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.189C>T (p.Ala63=) single nucleotide variant not provided [RCV001491704] Chr2:177392978 [GRCh38]
Chr2:178257706 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.1788A>G (p.Glu596=) single nucleotide variant not provided [RCV001487230] Chr2:177521359 [GRCh38]
Chr2:178386087 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.159G>C (p.Leu53=) single nucleotide variant not provided [RCV001472097] Chr2:177392948 [GRCh38]
Chr2:178257676 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.513T>G (p.Thr171=) single nucleotide variant not provided [RCV001415994] Chr2:177436835 [GRCh38]
Chr2:178301563 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.927T>C (p.Thr309=) single nucleotide variant not provided [RCV001464132] Chr2:177461949 [GRCh38]
Chr2:178326677 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.1197A>G (p.Glu399=) single nucleotide variant not provided [RCV001474764] Chr2:177482150 [GRCh38]
Chr2:178346878 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.1779C>A (p.Thr593=) single nucleotide variant not provided [RCV001443255] Chr2:177521350 [GRCh38]
Chr2:178386078 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.1917G>A (p.Leu639=) single nucleotide variant not provided [RCV001400737] Chr2:177538135 [GRCh38]
Chr2:178402863 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.96C>T (p.Asp32=) single nucleotide variant not provided [RCV001419943] Chr2:177392885 [GRCh38]
Chr2:178257613 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.1260C>T (p.Leu420=) single nucleotide variant not provided [RCV001430285] Chr2:177493174 [GRCh38]
Chr2:178357902 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.1719A>G (p.Ala573=) single nucleotide variant not provided [RCV001415576] Chr2:177521290 [GRCh38]
Chr2:178386018 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.153G>A (p.Glu51=) single nucleotide variant not provided [RCV001430254] Chr2:177392942 [GRCh38]
Chr2:178257670 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.1386G>A (p.Gln462=) single nucleotide variant not provided [RCV001423600] Chr2:177499641 [GRCh38]
Chr2:178364369 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.1314T>C (p.Ser438=) single nucleotide variant not provided [RCV001444582] Chr2:177497717 [GRCh38]
Chr2:178362445 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.790-6C>T single nucleotide variant not provided [RCV001437097] Chr2:177445540 [GRCh38]
Chr2:178310268 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.562+9_562+13del deletion not provided [RCV001444681] Chr2:177436890..177436894 [GRCh38]
Chr2:178301618..178301622 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.1624A>C (p.Arg542=) single nucleotide variant not provided [RCV001405813] Chr2:177513835 [GRCh38]
Chr2:178378563 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.1773A>G (p.Pro591=) single nucleotide variant not provided [RCV001399959] Chr2:177521344 [GRCh38]
Chr2:178386072 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.1362+79G>A single nucleotide variant Rhizomelic chondrodysplasia punctata type 3 [RCV001543209]|not provided [RCV001685468] Chr2:177497844 [GRCh38]
Chr2:178362572 [GRCh37]
Chr2:2q31.2		 benign
NM_003659.4(AGPS):c.1608-95T>A single nucleotide variant Rhizomelic chondrodysplasia punctata type 3 [RCV001543210]|not provided [RCV001638138] Chr2:177513724 [GRCh38]
Chr2:178378452 [GRCh37]
Chr2:2q31.2		 benign
NM_003659.4(AGPS):c.1824T>C (p.Ala608=) single nucleotide variant not provided [RCV001417754] Chr2:177523774 [GRCh38]
Chr2:178388502 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.261-10T>A single nucleotide variant not provided [RCV001408302] Chr2:177420259 [GRCh38]
Chr2:178284987 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.27T>A (p.Gly9=) single nucleotide variant not provided [RCV001398158] Chr2:177392816 [GRCh38]
Chr2:178257544 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.324G>A (p.Lys108=) single nucleotide variant not provided [RCV001416270] Chr2:177420332 [GRCh38]
Chr2:178285060 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.1935T>C (p.Tyr645=) single nucleotide variant not provided [RCV001431967] Chr2:177538153 [GRCh38]
Chr2:178402881 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.1167G>A (p.Lys389=) single nucleotide variant not provided [RCV001419988] Chr2:177482120 [GRCh38]
Chr2:178346848 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.1476-7_1476-4del deletion not provided [RCV001472716] Chr2:177505496..177505499 [GRCh38]
Chr2:178370224..178370227 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.260+9C>T single nucleotide variant not provided [RCV001478988] Chr2:177393058 [GRCh38]
Chr2:178257786 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.1902C>T (p.Val634=) single nucleotide variant not provided [RCV001490288] Chr2:177538120 [GRCh38]
Chr2:178402848 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.915G>A (p.Leu305=) single nucleotide variant not provided [RCV001473070] Chr2:177461937 [GRCh38]
Chr2:178326665 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.405C>A (p.Thr135=) single nucleotide variant not provided [RCV001465175] Chr2:177434381 [GRCh38]
Chr2:178299109 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.405C>G (p.Thr135=) single nucleotide variant not provided [RCV001486494] Chr2:177434381 [GRCh38]
Chr2:178299109 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.563-8C>A single nucleotide variant not provided [RCV001502666] Chr2:177436972 [GRCh38]
Chr2:178301700 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.1080C>T (p.Ile360=) single nucleotide variant not provided [RCV001491446] Chr2:177468499 [GRCh38]
Chr2:178333227 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.350+7C>G single nucleotide variant not provided [RCV001476694] Chr2:177420365 [GRCh38]
Chr2:178285093 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.1500T>C (p.Asn500=) single nucleotide variant not provided [RCV001487381] Chr2:177505530 [GRCh38]
Chr2:178370258 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.350+273dup duplication not provided [RCV001617723] Chr2:177420627..177420628 [GRCh38]
Chr2:178285355..178285356 [GRCh37]
Chr2:2q31.2		 benign
NM_003659.4(AGPS):c.192G>C (p.Ala64=) single nucleotide variant AGPS-related condition [RCV003930955]|not provided [RCV001456033] Chr2:177392981 [GRCh38]
Chr2:178257709 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.1311C>T (p.Ser437=) single nucleotide variant not provided [RCV001460275] Chr2:177497714 [GRCh38]
Chr2:178362442 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.1608-3dup duplication not provided [RCV001517655] Chr2:177513809..177513810 [GRCh38]
Chr2:178378537..178378538 [GRCh37]
Chr2:2q31.2		 benign
NM_003659.4(AGPS):c.873T>C (p.Leu291=) single nucleotide variant not provided [RCV001470801] Chr2:177461895 [GRCh38]
Chr2:178326623 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.1119A>G (p.Val373=) single nucleotide variant not provided [RCV001460618] Chr2:177482072 [GRCh38]
Chr2:178346800 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.1248A>G (p.Ala416=) single nucleotide variant not provided [RCV001460689] Chr2:177493162 [GRCh38]
Chr2:178357890 [GRCh37]
Chr2:2q31.2		 likely benign
NR_026966.1(LOC100130691):n.68C>G single nucleotide variant not provided [RCV001666279] Chr2:177392624 [GRCh38]
Chr2:178257352 [GRCh37]
Chr2:2q31.2		 benign
NM_003659.4(AGPS):c.204G>C (p.Thr68=) single nucleotide variant not provided [RCV001431052] Chr2:177392993 [GRCh38]
Chr2:178257721 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.1749T>C (p.Phe583=) single nucleotide variant not provided [RCV001479793] Chr2:177521320 [GRCh38]
Chr2:178386048 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.1011A>G (p.Lys337=) single nucleotide variant not provided [RCV001501868] Chr2:177468430 [GRCh38]
Chr2:178333158 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.1286-5_1286-3del microsatellite not provided [RCV001467293] Chr2:177497680..177497682 [GRCh38]
Chr2:178362408..178362410 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.1176A>G (p.Ser392=) single nucleotide variant not provided [RCV001504810] Chr2:177482129 [GRCh38]
Chr2:178346857 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.1545+9T>A single nucleotide variant not provided [RCV001506765] Chr2:177505584 [GRCh38]
Chr2:178370312 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.733C>T (p.Leu245=) single nucleotide variant not provided [RCV001498625] Chr2:177442430 [GRCh38]
Chr2:178307158 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.1806T>C (p.Ala602=) single nucleotide variant not provided [RCV001406172] Chr2:177523756 [GRCh38]
Chr2:178388484 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.1539C>T (p.Tyr513=) single nucleotide variant Rhizomelic chondrodysplasia punctata type 3 [RCV001803320]|not provided [RCV001469398] Chr2:177505569 [GRCh38]
Chr2:178370297 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.638-5A>C single nucleotide variant not provided [RCV001451467] Chr2:177440960 [GRCh38]
Chr2:178305688 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.909T>C (p.Asp303=) single nucleotide variant not provided [RCV001458817] Chr2:177461931 [GRCh38]
Chr2:178326659 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.405C>T (p.Thr135=) single nucleotide variant not provided [RCV001506358] Chr2:177434381 [GRCh38]
Chr2:178299109 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.1662G>A (p.Glu554=) single nucleotide variant not provided [RCV001461708] Chr2:177513873 [GRCh38]
Chr2:178378601 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.588G>A (p.Leu196=) single nucleotide variant not provided [RCV001432185] Chr2:177437005 [GRCh38]
Chr2:178301733 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.563-9A>G single nucleotide variant not provided [RCV001423439] Chr2:177436971 [GRCh38]
Chr2:178301699 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.555A>G (p.Arg185=) single nucleotide variant not provided [RCV001451829] Chr2:177436877 [GRCh38]
Chr2:178301605 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.141C>A (p.Gly47=) single nucleotide variant Rhizomelic chondrodysplasia punctata type 3 [RCV001832632]|not provided [RCV001483505] Chr2:177392930 [GRCh38]
Chr2:178257658 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.1106-4T>A single nucleotide variant not provided [RCV001399860] Chr2:177482055 [GRCh38]
Chr2:178346783 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.183G>A (p.Arg61=) single nucleotide variant not provided [RCV001425409] Chr2:177392972 [GRCh38]
Chr2:178257700 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.1875A>G (p.Gln625=) single nucleotide variant not provided [RCV001419560] Chr2:177538093 [GRCh38]
Chr2:178402821 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.1779C>G (p.Thr593=) single nucleotide variant not provided [RCV001476624] Chr2:177521350 [GRCh38]
Chr2:178386078 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.684T>C (p.Tyr228=) single nucleotide variant not provided [RCV001463366] Chr2:177441011 [GRCh38]
Chr2:178305739 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.1338A>G (p.Gly446=) single nucleotide variant not provided [RCV001496983] Chr2:177497741 [GRCh38]
Chr2:178362469 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.735G>A (p.Leu245=) single nucleotide variant not provided [RCV001501067] Chr2:177442432 [GRCh38]
Chr2:178307160 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.72C>T (p.Asp24=) single nucleotide variant Rhizomelic chondrodysplasia punctata type 3 [RCV001826235]|not provided [RCV001424496] Chr2:177392861 [GRCh38]
Chr2:178257589 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.1863G>A (p.Lys621=) single nucleotide variant not provided [RCV001495103] Chr2:177538081 [GRCh38]
Chr2:178402809 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.567T>C (p.His189=) single nucleotide variant not provided [RCV001462294] Chr2:177436984 [GRCh38]
Chr2:178301712 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.837G>A (p.Glu279=) single nucleotide variant not provided [RCV001501372] Chr2:177445593 [GRCh38]
Chr2:178310321 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.1797+11A>G single nucleotide variant Rhizomelic chondrodysplasia punctata type 3 [RCV001802498]|not provided [RCV002077242] Chr2:177521379 [GRCh38]
Chr2:178386107 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.1363-2A>T single nucleotide variant Rhizomelic chondrodysplasia punctata type 3 [RCV001809120] Chr2:177499616 [GRCh38]
Chr2:178364344 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_003659.4(AGPS):c.1350T>G (p.Phe450Leu) single nucleotide variant not provided [RCV001914712] Chr2:177497753 [GRCh38]
Chr2:178362481 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_003659.4(AGPS):c.1229A>G (p.Lys410Arg) single nucleotide variant not provided [RCV001986595] Chr2:177482182 [GRCh38]
Chr2:178346910 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_003659.4(AGPS):c.71A>T (p.Asp24Val) single nucleotide variant not specified [RCV001844589] Chr2:177392860 [GRCh38]
Chr2:178257588 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_003659.4(AGPS):c.89A>T (p.Asp30Val) single nucleotide variant not specified [RCV001844591] Chr2:177392878 [GRCh38]
Chr2:178257606 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_003659.4(AGPS):c.115C>T (p.Arg39Trp) single nucleotide variant not provided [RCV002041146] Chr2:177392904 [GRCh38]
Chr2:178257632 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_003659.4(AGPS):c.871-16A>G single nucleotide variant not provided [RCV002023621] Chr2:177461877 [GRCh38]
Chr2:178326605 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_003659.4(AGPS):c.49_54dup (p.Ala17_Ser18dup) duplication not provided [RCV002004145]|not specified [RCV002266089] Chr2:177392835..177392836 [GRCh38]
Chr2:178257563..178257564 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_003659.4(AGPS):c.1141A>G (p.Ile381Val) single nucleotide variant not provided [RCV001889810] Chr2:177482094 [GRCh38]
Chr2:178346822 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_003659.4(AGPS):c.77A>T (p.Asp26Val) single nucleotide variant not specified [RCV001844590] Chr2:177392866 [GRCh38]
Chr2:178257594 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_003659.4(AGPS):c.1238G>A (p.Cys413Tyr) single nucleotide variant not provided [RCV001914197] Chr2:177493152 [GRCh38]
Chr2:178357880 [GRCh37]
Chr2:2q31.2		 uncertain significance
GRCh37/hg19 2q31.1-35(chr2:169829974-215521436) copy number gain not specified [RCV002053265] Chr2:169829974..215521436 [GRCh37]
Chr2:2q31.1-35		 pathogenic
NM_003659.4(AGPS):c.1418A>G (p.Asp473Gly) single nucleotide variant not provided [RCV001941282] Chr2:177499673 [GRCh38]
Chr2:178364401 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_003659.4(AGPS):c.1826A>G (p.Asn609Ser) single nucleotide variant not provided [RCV001902030] Chr2:177523776 [GRCh38]
Chr2:178388504 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_003659.4(AGPS):c.949C>T (p.Arg317Cys) single nucleotide variant not provided [RCV001906327] Chr2:177461971 [GRCh38]
Chr2:178326699 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_003659.4(AGPS):c.425A>G (p.His142Arg) single nucleotide variant not provided [RCV001962650] Chr2:177434401 [GRCh38]
Chr2:178299129 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_003659.4(AGPS):c.703A>G (p.Ile235Val) single nucleotide variant not provided [RCV001943623] Chr2:177441030 [GRCh38]
Chr2:178305758 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_003659.4(AGPS):c.1233+1G>A single nucleotide variant not provided [RCV001931010] Chr2:177482187 [GRCh38]
Chr2:178346915 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_003659.4(AGPS):c.34G>C (p.Gly12Arg) single nucleotide variant not provided [RCV001880360] Chr2:177392823 [GRCh38]
Chr2:178257551 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_003659.4(AGPS):c.166A>G (p.Asn56Asp) single nucleotide variant not provided [RCV001935098] Chr2:177392955 [GRCh38]
Chr2:178257683 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_003659.4(AGPS):c.404C>T (p.Thr135Ile) single nucleotide variant not provided [RCV001992527] Chr2:177434380 [GRCh38]
Chr2:178299108 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_003659.4(AGPS):c.1382A>G (p.Asn461Ser) single nucleotide variant not provided [RCV001937384] Chr2:177499637 [GRCh38]
Chr2:178364365 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_003659.4(AGPS):c.5C>A (p.Ala2Glu) single nucleotide variant not provided [RCV002012088] Chr2:177392794 [GRCh38]
Chr2:178257522 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_003659.4(AGPS):c.6G>T (p.Ala2=) single nucleotide variant not provided [RCV002185459] Chr2:177392795 [GRCh38]
Chr2:178257523 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.1491A>C (p.Gly497=) single nucleotide variant not provided [RCV002110423] Chr2:177505521 [GRCh38]
Chr2:178370249 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.990G>A (p.Glu330=) single nucleotide variant not provided [RCV002189867] Chr2:177462012 [GRCh38]
Chr2:178326740 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.546A>T (p.Arg182=) single nucleotide variant not provided [RCV002090107] Chr2:177436868 [GRCh38]
Chr2:178301596 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.534G>A (p.Glu178=) single nucleotide variant not provided [RCV002092136] Chr2:177436856 [GRCh38]
Chr2:178301584 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.954A>T (p.Ala318=) single nucleotide variant not provided [RCV002206033] Chr2:177461976 [GRCh38]
Chr2:178326704 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.1362+7A>T single nucleotide variant not provided [RCV002191168] Chr2:177497772 [GRCh38]
Chr2:178362500 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.6G>A (p.Ala2=) single nucleotide variant AGPS-related condition [RCV003913636]|not provided [RCV002088453] Chr2:177392795 [GRCh38]
Chr2:178257523 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.1286-4T>C single nucleotide variant not provided [RCV002129286] Chr2:177497685 [GRCh38]
Chr2:178362413 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.1233+12A>T single nucleotide variant not provided [RCV002185889] Chr2:177482198 [GRCh38]
Chr2:178346926 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.1286-10C>G single nucleotide variant not provided [RCV002147361] Chr2:177497679 [GRCh38]
Chr2:178362407 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.1872G>A (p.Lys624=) single nucleotide variant not provided [RCV002186946] Chr2:177538090 [GRCh38]
Chr2:178402818 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.246C>A (p.Thr82=) single nucleotide variant not provided [RCV002110978] Chr2:177393035 [GRCh38]
Chr2:178257763 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.871-9G>A single nucleotide variant not provided [RCV002130585] Chr2:177461884 [GRCh38]
Chr2:178326612 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.1363-5del deletion not provided [RCV002196721] Chr2:177499601 [GRCh38]
Chr2:178364329 [GRCh37]
Chr2:2q31.2		 benign
NM_003659.4(AGPS):c.966G>A (p.Lys322=) single nucleotide variant not provided [RCV002193725] Chr2:177461988 [GRCh38]
Chr2:178326716 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.563-9A>T single nucleotide variant not provided [RCV002171282] Chr2:177436971 [GRCh38]
Chr2:178301699 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.537A>G (p.Ala179=) single nucleotide variant not provided [RCV002097038] Chr2:177436859 [GRCh38]
Chr2:178301587 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.729T>C (p.Tyr243=) single nucleotide variant not provided [RCV002109907] Chr2:177442426 [GRCh38]
Chr2:178307154 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.642C>T (p.Cys214=) single nucleotide variant not provided [RCV002077783] Chr2:177440969 [GRCh38]
Chr2:178305697 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.1575A>G (p.Gly525=) single nucleotide variant not provided [RCV002096508] Chr2:177507999 [GRCh38]
Chr2:178372727 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.1363-18del deletion not provided [RCV002153314] Chr2:177499598 [GRCh38]
Chr2:178364326 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.1950C>T (p.Asn650=) single nucleotide variant not provided [RCV002207101] Chr2:177538168 [GRCh38]
Chr2:178402896 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.637+18C>T single nucleotide variant not provided [RCV002113384] Chr2:177437072 [GRCh38]
Chr2:178301800 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.15G>C (p.Ala5=) single nucleotide variant not provided [RCV002153423] Chr2:177392804 [GRCh38]
Chr2:178257532 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.1363-4G>T single nucleotide variant not provided [RCV002125721] Chr2:177499614 [GRCh38]
Chr2:178364342 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.1105+18T>C single nucleotide variant not provided [RCV002209111] Chr2:177468542 [GRCh38]
Chr2:178333270 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.1701G>T (p.Val567=) single nucleotide variant not provided [RCV002134215] Chr2:177521272 [GRCh38]
Chr2:178386000 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.147C>A (p.Pro49=) single nucleotide variant not provided [RCV002095984] Chr2:177392936 [GRCh38]
Chr2:178257664 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.426T>C (p.His142=) single nucleotide variant not provided [RCV002116299] Chr2:177434402 [GRCh38]
Chr2:178299130 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.710-10A>C single nucleotide variant not provided [RCV002195474] Chr2:177442397 [GRCh38]
Chr2:178307125 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.1698-8T>C single nucleotide variant not provided [RCV002091531] Chr2:177521261 [GRCh38]
Chr2:178385989 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.1105+9A>G single nucleotide variant not provided [RCV002114194] Chr2:177468533 [GRCh38]
Chr2:178333261 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.1323A>G (p.Thr441=) single nucleotide variant not provided [RCV002093589] Chr2:177497726 [GRCh38]
Chr2:178362454 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.1233+13AT[7] microsatellite Rhizomelic chondrodysplasia punctata type 3 [RCV003617947]|not provided [RCV002086188] Chr2:177482198..177482199 [GRCh38]
Chr2:178346926..178346927 [GRCh37]
Chr2:2q31.2		 benign|likely benign
NM_003659.4(AGPS):c.183G>T (p.Arg61=) single nucleotide variant not provided [RCV002131078] Chr2:177392972 [GRCh38]
Chr2:178257700 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.1293T>C (p.Ala431=) single nucleotide variant not provided [RCV002150770] Chr2:177497696 [GRCh38]
Chr2:178362424 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.1286-8C>A single nucleotide variant not provided [RCV002172701] Chr2:177497681 [GRCh38]
Chr2:178362409 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.1363-18A>T single nucleotide variant not provided [RCV002218501] Chr2:177499600 [GRCh38]
Chr2:178364328 [GRCh37]
Chr2:2q31.2		 benign
NM_003659.4(AGPS):c.522A>G (p.Ser174=) single nucleotide variant not provided [RCV002157931] Chr2:177436844 [GRCh38]
Chr2:178301572 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.1719A>T (p.Ala573=) single nucleotide variant not provided [RCV002098392] Chr2:177521290 [GRCh38]
Chr2:178386018 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.790-8T>C single nucleotide variant not provided [RCV002220761] Chr2:177445538 [GRCh38]
Chr2:178310266 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.1363-5dup duplication not provided [RCV002123853] Chr2:177499600..177499601 [GRCh38]
Chr2:178364328..178364329 [GRCh37]
Chr2:2q31.2		 benign
NM_003659.4(AGPS):c.225C>G (p.Pro75=) single nucleotide variant not provided [RCV002179605] Chr2:177393014 [GRCh38]
Chr2:178257742 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.301dup (p.Ser101fs) duplication Rhizomelic chondrodysplasia punctata type 3 [RCV003459994] Chr2:177420307..177420308 [GRCh38]
Chr2:178285035..178285036 [GRCh37]
Chr2:2q31.2		 likely pathogenic
NM_003659.4(AGPS):c.1545+13A>G single nucleotide variant not provided [RCV002084332] Chr2:177505588 [GRCh38]
Chr2:178370316 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.1545+8A>G single nucleotide variant not provided [RCV002141902] Chr2:177505583 [GRCh38]
Chr2:178370311 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.544C>A (p.Arg182=) single nucleotide variant not provided [RCV002176250] Chr2:177436866 [GRCh38]
Chr2:178301594 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.441+18A>G single nucleotide variant not provided [RCV002140685] Chr2:177434435 [GRCh38]
Chr2:178299163 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.1755C>T (p.Tyr585=) single nucleotide variant not provided [RCV002083017] Chr2:177521326 [GRCh38]
Chr2:178386054 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.465A>T (p.Thr155=) single nucleotide variant not provided [RCV002157754] Chr2:177436787 [GRCh38]
Chr2:178301515 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.1405C>T (p.Leu469=) single nucleotide variant not provided [RCV002160011] Chr2:177499660 [GRCh38]
Chr2:178364388 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.771T>G (p.Ser257=) single nucleotide variant not provided [RCV002143118] Chr2:177442468 [GRCh38]
Chr2:178307196 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.1068A>G (p.Thr356=) single nucleotide variant not provided [RCV002183330] Chr2:177468487 [GRCh38]
Chr2:178333215 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.563-12dup duplication not provided [RCV002164009] Chr2:177436966..177436967 [GRCh38]
Chr2:178301694..178301695 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.81G>A (p.Arg27=) single nucleotide variant not provided [RCV002142123] Chr2:177392870 [GRCh38]
Chr2:178257598 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.60G>T (p.Gly20=) single nucleotide variant not provided [RCV002164656] Chr2:177392849 [GRCh38]
Chr2:178257577 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.1285+7A>G single nucleotide variant not provided [RCV002119207] Chr2:177493206 [GRCh38]
Chr2:178357934 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.372T>A (p.Gly124=) single nucleotide variant not provided [RCV002160780] Chr2:177434348 [GRCh38]
Chr2:178299076 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.670C>T (p.Leu224=) single nucleotide variant not provided [RCV002182370] Chr2:177440997 [GRCh38]
Chr2:178305725 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.711A>G (p.Gly237=) single nucleotide variant not provided [RCV002218773] Chr2:177442408 [GRCh38]
Chr2:178307136 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.260+10G>A single nucleotide variant not provided [RCV002100531] Chr2:177393059 [GRCh38]
Chr2:178257787 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.1884G>A (p.Lys628=) single nucleotide variant not provided [RCV002083979] Chr2:177538102 [GRCh38]
Chr2:178402830 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.396C>T (p.Ile132=) single nucleotide variant not provided [RCV002221109] Chr2:177434372 [GRCh38]
Chr2:178299100 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.987C>T (p.Ile329=) single nucleotide variant not provided [RCV002120379] Chr2:177462009 [GRCh38]
Chr2:178326737 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.1545+9T>C single nucleotide variant not provided [RCV002178195] Chr2:177505584 [GRCh38]
Chr2:178370312 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.790-7G>T single nucleotide variant not provided [RCV002143387] Chr2:177445539 [GRCh38]
Chr2:178310267 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.78C>T (p.Asp26=) single nucleotide variant not provided [RCV002199336] Chr2:177392867 [GRCh38]
Chr2:178257595 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.871-15del deletion not provided [RCV002122983] Chr2:177461876 [GRCh38]
Chr2:178326604 [GRCh37]
Chr2:2q31.2		 benign
NM_003659.4(AGPS):c.117G>T (p.Arg39=) single nucleotide variant not provided [RCV002180340] Chr2:177392906 [GRCh38]
Chr2:178257634 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.120T>C (p.Val40=) single nucleotide variant not provided [RCV002137573] Chr2:177392909 [GRCh38]
Chr2:178257637 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.342T>C (p.Thr114=) single nucleotide variant not provided [RCV002217234] Chr2:177420350 [GRCh38]
Chr2:178285078 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.180G>A (p.Ala60=) single nucleotide variant not provided [RCV002175808] Chr2:177392969 [GRCh38]
Chr2:178257697 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.37T>C (p.Leu13=) single nucleotide variant not provided [RCV002200436] Chr2:177392826 [GRCh38]
Chr2:178257554 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.930A>C (p.Val310=) single nucleotide variant not provided [RCV002184132] Chr2:177461952 [GRCh38]
Chr2:178326680 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.1812A>G (p.Glu604=) single nucleotide variant not provided [RCV002162811] Chr2:177523762 [GRCh38]
Chr2:178388490 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.637+19G>A single nucleotide variant not provided [RCV002178401] Chr2:177437073 [GRCh38]
Chr2:178301801 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.873T>G (p.Leu291=) single nucleotide variant not provided [RCV002102852] Chr2:177461895 [GRCh38]
Chr2:178326623 [GRCh37]
Chr2:2q31.2		 likely benign
NC_000002.11:g.(?_178095513)_(178705130_?)dup duplication not provided [RCV003113299] Chr2:178095513..178705130 [GRCh37]
Chr2:2q31.2		 uncertain significance
NC_000002.11:g.(?_178095513)_(179914668_?)del deletion not provided [RCV003113300] Chr2:178095513..179914668 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_003659.4(AGPS):c.1746C>G (p.Ala582=) single nucleotide variant not provided [RCV003118028] Chr2:177521317 [GRCh38]
Chr2:178386045 [GRCh37]
Chr2:2q31.2		 likely benign
NC_000002.11:g.(?_178095513)_(179914668_?)dup duplication not provided [RCV003116536] Chr2:178095513..179914668 [GRCh37]
Chr2:2q31.2		 uncertain significance
Single allele deletion Split hand-foot malformation 5 [RCV002264898] Chr2:171524396..178694337 [GRCh37]
Chr2:2q31.1-31.2		 pathogenic
NM_003659.4(AGPS):c.1697+2T>C single nucleotide variant not specified [RCV002266374] Chr2:177513910 [GRCh38]
Chr2:178378638 [GRCh37]
Chr2:2q31.2		 uncertain significance
GRCh37/hg19 2q31.2(chr2:178085640-178407456)x1 copy number loss See cases [RCV002287840] Chr2:178085640..178407456 [GRCh37]
Chr2:2q31.2		 pathogenic
NM_003659.4(AGPS):c.602T>C (p.Met201Thr) single nucleotide variant Inborn genetic diseases [RCV003280626] Chr2:177437019 [GRCh38]
Chr2:178301747 [GRCh37]
Chr2:2q31.2		 uncertain significance
GRCh37/hg19 2q31.1-31.3(chr2:175143352-180999636)x1 copy number loss not provided [RCV002474570] Chr2:175143352..180999636 [GRCh37]
Chr2:2q31.1-31.3		 pathogenic
NM_003659.4(AGPS):c.1336G>A (p.Gly446Arg) single nucleotide variant not provided [RCV002616198] Chr2:177497739 [GRCh38]
Chr2:178362467 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_003659.4(AGPS):c.1638A>G (p.Glu546=) single nucleotide variant not provided [RCV002968116] Chr2:177513849 [GRCh38]
Chr2:178378577 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.1285+12G>C single nucleotide variant not provided [RCV003013500] Chr2:177493211 [GRCh38]
Chr2:178357939 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.261-4C>T single nucleotide variant not provided [RCV002994795] Chr2:177420265 [GRCh38]
Chr2:178284993 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.1050A>G (p.Gln350=) single nucleotide variant not provided [RCV002908923] Chr2:177468469 [GRCh38]
Chr2:178333197 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.457A>C (p.Ser153Arg) single nucleotide variant not provided [RCV003076518] Chr2:177436779 [GRCh38]
Chr2:178301507 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_003659.4(AGPS):c.26G>C (p.Gly9Ala) single nucleotide variant not provided [RCV002970596] Chr2:177392815 [GRCh38]
Chr2:178257543 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_003659.4(AGPS):c.1161C>T (p.Tyr387=) single nucleotide variant not provided [RCV002862010] Chr2:177482114 [GRCh38]
Chr2:178346842 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.1656C>T (p.Cys552=) single nucleotide variant not provided [RCV002881861] Chr2:177513867 [GRCh38]
Chr2:178378595 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.69G>A (p.Ala23=) single nucleotide variant not provided [RCV002775580] Chr2:177392858 [GRCh38]
Chr2:178257586 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.30G>C (p.Gly10=) single nucleotide variant not provided [RCV003074818] Chr2:177392819 [GRCh38]
Chr2:178257547 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.1475+7C>A single nucleotide variant not provided [RCV002995298] Chr2:177499737 [GRCh38]
Chr2:178364465 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.740G>T (p.Cys247Phe) single nucleotide variant not provided [RCV003073709] Chr2:177442437 [GRCh38]
Chr2:178307165 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_003659.4(AGPS):c.1689T>C (p.Ser563=) single nucleotide variant not provided [RCV002815318] Chr2:177513900 [GRCh38]
Chr2:178378628 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.333T>C (p.Ile111=) single nucleotide variant not provided [RCV003033784] Chr2:177420341 [GRCh38]
Chr2:178285069 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.1454A>G (p.Tyr485Cys) single nucleotide variant Inborn genetic diseases [RCV002732363] Chr2:177499709 [GRCh38]
Chr2:178364437 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_003659.4(AGPS):c.562+8A>T single nucleotide variant not provided [RCV002726828] Chr2:177436892 [GRCh38]
Chr2:178301620 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.1798-8A>C single nucleotide variant not provided [RCV002846490] Chr2:177523740 [GRCh38]
Chr2:178388468 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.1617T>C (p.Asp539=) single nucleotide variant not provided [RCV003080072] Chr2:177513828 [GRCh38]
Chr2:178378556 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.870+7T>C single nucleotide variant not provided [RCV002740363] Chr2:177445633 [GRCh38]
Chr2:178310361 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.1017A>G (p.Val339=) single nucleotide variant not provided [RCV003003222] Chr2:177468436 [GRCh38]
Chr2:178333164 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.1608-17C>T single nucleotide variant not provided [RCV002591306] Chr2:177513802 [GRCh38]
Chr2:178378530 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.239C>T (p.Ser80Leu) single nucleotide variant Inborn genetic diseases [RCV002757178] Chr2:177393028 [GRCh38]
Chr2:178257756 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_003659.4(AGPS):c.60G>A (p.Gly20=) single nucleotide variant not provided [RCV003035917] Chr2:177392849 [GRCh38]
Chr2:178257577 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.1507A>G (p.Arg503Gly) single nucleotide variant Inborn genetic diseases [RCV002924937] Chr2:177505537 [GRCh38]
Chr2:178370265 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_003659.4(AGPS):c.735G>C (p.Leu245=) single nucleotide variant not provided [RCV002866770] Chr2:177442432 [GRCh38]
Chr2:178307160 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.615T>A (p.Ile205=) single nucleotide variant not provided [RCV003000177] Chr2:177437032 [GRCh38]
Chr2:178301760 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.133C>T (p.Leu45=) single nucleotide variant not provided [RCV003037687] Chr2:177392922 [GRCh38]
Chr2:178257650 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.655G>T (p.Val219Phe) single nucleotide variant Inborn genetic diseases [RCV002738143] Chr2:177440982 [GRCh38]
Chr2:178305710 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_003659.4(AGPS):c.90C>T (p.Asp30=) single nucleotide variant not provided [RCV002760163] Chr2:177392879 [GRCh38]
Chr2:178257607 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.1286-9T>C single nucleotide variant not provided [RCV002847208] Chr2:177497680 [GRCh38]
Chr2:178362408 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.638-6C>T single nucleotide variant not provided [RCV002913942] Chr2:177440959 [GRCh38]
Chr2:178305687 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.997-18G>A single nucleotide variant not provided [RCV002761507] Chr2:177468398 [GRCh38]
Chr2:178333126 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.149G>A (p.Arg50Gln) single nucleotide variant not provided [RCV002913626] Chr2:177392938 [GRCh38]
Chr2:178257666 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_003659.4(AGPS):c.1768G>C (p.Asp590His) single nucleotide variant not provided [RCV002952810] Chr2:177521339 [GRCh38]
Chr2:178386067 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_003659.4(AGPS):c.1507A>C (p.Arg503=) single nucleotide variant not provided [RCV003017997] Chr2:177505537 [GRCh38]
Chr2:178370265 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.1798-10C>T single nucleotide variant not provided [RCV003020094] Chr2:177523738 [GRCh38]
Chr2:178388466 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.1224T>C (p.Ile408=) single nucleotide variant not provided [RCV002621333] Chr2:177482177 [GRCh38]
Chr2:178346905 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.1946A>G (p.Asn649Ser) single nucleotide variant not provided [RCV002923645] Chr2:177538164 [GRCh38]
Chr2:178402892 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_003659.4(AGPS):c.404C>A (p.Thr135Asn) single nucleotide variant Inborn genetic diseases [RCV002758554] Chr2:177434380 [GRCh38]
Chr2:178299108 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_003659.4(AGPS):c.918G>A (p.Glu306=) single nucleotide variant not provided [RCV002886261] Chr2:177461940 [GRCh38]
Chr2:178326668 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.1527T>C (p.Tyr509=) single nucleotide variant not provided [RCV003038959] Chr2:177505557 [GRCh38]
Chr2:178370285 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.9G>A (p.Glu3=) single nucleotide variant not provided [RCV002866833] Chr2:177392798 [GRCh38]
Chr2:178257526 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.1762A>C (p.Ile588Leu) single nucleotide variant Inborn genetic diseases [RCV002869955] Chr2:177521333 [GRCh38]
Chr2:178386061 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_003659.4(AGPS):c.350+10G>T single nucleotide variant not provided [RCV002570301] Chr2:177420368 [GRCh38]
Chr2:178285096 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.829C>A (p.His277Asn) single nucleotide variant Inborn genetic diseases [RCV002830625] Chr2:177445585 [GRCh38]
Chr2:178310313 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_003659.4(AGPS):c.411A>G (p.Gly137=) single nucleotide variant not provided [RCV003023894] Chr2:177434387 [GRCh38]
Chr2:178299115 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.303T>C (p.Ser101=) single nucleotide variant not provided [RCV002933365] Chr2:177420311 [GRCh38]
Chr2:178285039 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.870+19T>A single nucleotide variant not provided [RCV003082443] Chr2:177445645 [GRCh38]
Chr2:178310373 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.477T>A (p.Val159=) single nucleotide variant not provided [RCV003083275] Chr2:177436799 [GRCh38]
Chr2:178301527 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.1378C>T (p.Pro460Ser) single nucleotide variant Inborn genetic diseases [RCV003056795]|not provided [RCV003056796] Chr2:177499633 [GRCh38]
Chr2:178364361 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_003659.4(AGPS):c.1851T>C (p.His617=) single nucleotide variant not provided [RCV002805513] Chr2:177523801 [GRCh38]
Chr2:178388529 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.1106-18C>T single nucleotide variant not provided [RCV002919241] Chr2:177482041 [GRCh38]
Chr2:178346769 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.981C>G (p.Gly327=) single nucleotide variant not provided [RCV002594745] Chr2:177462003 [GRCh38]
Chr2:178326731 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.261-6C>T single nucleotide variant not provided [RCV002805557] Chr2:177420263 [GRCh38]
Chr2:178284991 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.1798-6del deletion not provided [RCV003023094] Chr2:177523740 [GRCh38]
Chr2:178388468 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.954A>G (p.Ala318=) single nucleotide variant not provided [RCV002667419] Chr2:177461976 [GRCh38]
Chr2:178326704 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.240G>C (p.Ser80=) single nucleotide variant not provided [RCV002829385] Chr2:177393029 [GRCh38]
Chr2:178257757 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.897T>G (p.Gly299=) single nucleotide variant not provided [RCV002876275] Chr2:177461919 [GRCh38]
Chr2:178326647 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.80G>C (p.Arg27Pro) single nucleotide variant Inborn genetic diseases [RCV002891432] Chr2:177392869 [GRCh38]
Chr2:178257597 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_003659.4(AGPS):c.1443A>G (p.Glu481=) single nucleotide variant not provided [RCV003024656] Chr2:177499698 [GRCh38]
Chr2:178364426 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.562+10T>A single nucleotide variant not provided [RCV002810752] Chr2:177436894 [GRCh38]
Chr2:178301622 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.160A>T (p.Ser54Cys) single nucleotide variant not provided [RCV002807094] Chr2:177392949 [GRCh38]
Chr2:178257677 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_003659.4(AGPS):c.420G>A (p.Val140=) single nucleotide variant not provided [RCV003048567] Chr2:177434396 [GRCh38]
Chr2:178299124 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.45G>A (p.Ala15=) single nucleotide variant not provided [RCV002834543] Chr2:177392834 [GRCh38]
Chr2:178257562 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.444A>G (p.Ala148=) single nucleotide variant not provided [RCV002646988] Chr2:177436766 [GRCh38]
Chr2:178301494 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.1204G>A (p.Val402Ile) single nucleotide variant not provided [RCV002963257] Chr2:177482157 [GRCh38]
Chr2:178346885 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_003659.4(AGPS):c.1436A>G (p.Gln479Arg) single nucleotide variant not provided [RCV002599297] Chr2:177499691 [GRCh38]
Chr2:178364419 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_003659.4(AGPS):c.1839G>A (p.Leu613=) single nucleotide variant not provided [RCV002899343] Chr2:177523789 [GRCh38]
Chr2:178388517 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.1362+3A>G single nucleotide variant not provided [RCV002806875] Chr2:177497768 [GRCh38]
Chr2:178362496 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_003659.4(AGPS):c.794G>A (p.Arg265Gln) single nucleotide variant not provided [RCV002647301] Chr2:177445550 [GRCh38]
Chr2:178310278 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_003659.4(AGPS):c.732C>G (p.Gly244=) single nucleotide variant not provided [RCV002810268] Chr2:177442429 [GRCh38]
Chr2:178307157 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.208G>A (p.Ala70Thr) single nucleotide variant not provided [RCV002811576] Chr2:177392997 [GRCh38]
Chr2:178257725 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_003659.4(AGPS):c.1107A>C (p.Gly369=) single nucleotide variant not provided [RCV002812103] Chr2:177482060 [GRCh38]
Chr2:178346788 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.231G>T (p.Ala77=) single nucleotide variant not provided [RCV002647091] Chr2:177393020 [GRCh38]
Chr2:178257748 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.441+20T>C single nucleotide variant not provided [RCV002648180] Chr2:177434437 [GRCh38]
Chr2:178299165 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.64_65delinsAG (p.Ala22Arg) indel Inborn genetic diseases [RCV003011536]|not provided [RCV003011535] Chr2:177392853..177392854 [GRCh38]
Chr2:178257581..178257582 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_003659.4(AGPS):c.709+10G>A single nucleotide variant not provided [RCV002631179] Chr2:177441046 [GRCh38]
Chr2:178305774 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.637+10C>T single nucleotide variant not provided [RCV003031737] Chr2:177437064 [GRCh38]
Chr2:178301792 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.36C>T (p.Gly12=) single nucleotide variant not provided [RCV002811332] Chr2:177392825 [GRCh38]
Chr2:178257553 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.243C>T (p.Gly81=) single nucleotide variant not provided [RCV002900285] Chr2:177393032 [GRCh38]
Chr2:178257760 [GRCh37]
Chr2:2q31.2		 likely benign|uncertain significance
NM_003659.4(AGPS):c.97_98insCGGGCC (p.Asp32_Arg33insProGly) insertion not provided [RCV002988532] Chr2:177392884..177392885 [GRCh38]
Chr2:178257612..178257613 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_003659.4(AGPS):c.10G>T (p.Ala4Ser) single nucleotide variant Inborn genetic diseases [RCV002719664] Chr2:177392799 [GRCh38]
Chr2:178257527 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_003659.4(AGPS):c.1605C>A (p.Asp535Glu) single nucleotide variant Inborn genetic diseases [RCV002672601] Chr2:177508029 [GRCh38]
Chr2:178372757 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_003659.4(AGPS):c.1608-5T>C single nucleotide variant not provided [RCV003069916] Chr2:177513814 [GRCh38]
Chr2:178378542 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.1347G>A (p.Lys449=) single nucleotide variant not provided [RCV002584358] Chr2:177497750 [GRCh38]
Chr2:178362478 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.1647A>G (p.Thr549=) single nucleotide variant not provided [RCV002584067] Chr2:177513858 [GRCh38]
Chr2:178378586 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.1363-7T>G single nucleotide variant not provided [RCV003069291] Chr2:177499611 [GRCh38]
Chr2:178364339 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.637+15C>T single nucleotide variant not provided [RCV003067753] Chr2:177437069 [GRCh38]
Chr2:178301797 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.638-9T>C single nucleotide variant not provided [RCV002588083] Chr2:177440956 [GRCh38]
Chr2:178305684 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.358C>G (p.Leu120Val) single nucleotide variant not provided [RCV003072347] Chr2:177434334 [GRCh38]
Chr2:178299062 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_003659.4(AGPS):c.1764T>C (p.Ile588=) single nucleotide variant not provided [RCV002586496] Chr2:177521335 [GRCh38]
Chr2:178386063 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.672A>G (p.Leu224=) single nucleotide variant not provided [RCV002611173] Chr2:177440999 [GRCh38]
Chr2:178305727 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.591C>T (p.Leu197=) single nucleotide variant not provided [RCV002606658] Chr2:177437008 [GRCh38]
Chr2:178301736 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.1789C>G (p.Gln597Glu) single nucleotide variant Inborn genetic diseases [RCV003343168] Chr2:177521360 [GRCh38]
Chr2:178386088 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_003659.4(AGPS):c.918_919del (p.Glu306fs) deletion Rhizomelic chondrodysplasia punctata type 3 [RCV003467868] Chr2:177461940..177461941 [GRCh38]
Chr2:178326668..178326669 [GRCh37]
Chr2:2q31.2		 likely pathogenic
NM_003659.4(AGPS):c.1608-1G>A single nucleotide variant Rhizomelic chondrodysplasia punctata type 3 [RCV003459985] Chr2:177513818 [GRCh38]
Chr2:178378546 [GRCh37]
Chr2:2q31.2		 likely pathogenic
NM_003659.4(AGPS):c.710-2A>G single nucleotide variant Rhizomelic chondrodysplasia punctata type 3 [RCV003460002] Chr2:177442405 [GRCh38]
Chr2:178307133 [GRCh37]
Chr2:2q31.2		 likely pathogenic
NM_003659.4(AGPS):c.595G>T (p.Glu199Ter) single nucleotide variant Rhizomelic chondrodysplasia punctata type 3 [RCV003467841] Chr2:177437012 [GRCh38]
Chr2:178301740 [GRCh37]
Chr2:2q31.2		 likely pathogenic
NM_003659.4(AGPS):c.563-14T>A single nucleotide variant not provided [RCV003712603] Chr2:177436966 [GRCh38]
Chr2:178301694 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.1475+11A>C single nucleotide variant not provided [RCV003571745] Chr2:177499741 [GRCh38]
Chr2:178364469 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.1698-9_1698-6del microsatellite not provided [RCV003571786] Chr2:177521253..177521256 [GRCh38]
Chr2:178385981..178385984 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.516T>C (p.Asn172=) single nucleotide variant not provided [RCV003569644] Chr2:177436838 [GRCh38]
Chr2:178301566 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.1182T>G (p.Ala394=) single nucleotide variant not provided [RCV003570037] Chr2:177482135 [GRCh38]
Chr2:178346863 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.350+9G>A single nucleotide variant not provided [RCV003874079] Chr2:177420367 [GRCh38]
Chr2:178285095 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.417T>C (p.Asn139=) single nucleotide variant not provided [RCV003542899] Chr2:177434393 [GRCh38]
Chr2:178299121 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.1105+11C>T single nucleotide variant not provided [RCV003569223] Chr2:177468535 [GRCh38]
Chr2:178333263 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.852A>G (p.Gly284=) single nucleotide variant not provided [RCV003542972] Chr2:177445608 [GRCh38]
Chr2:178310336 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.1546-84_1591dup duplication Rhizomelic chondrodysplasia punctata type 3 [RCV003475589] Chr2:177507885..177507886 [GRCh38]
Chr2:178372613..178372614 [GRCh37]
Chr2:2q31.2		 likely pathogenic
NM_003659.4(AGPS):c.637+2T>A single nucleotide variant Rhizomelic chondrodysplasia punctata type 3 [RCV003466240] Chr2:177437056 [GRCh38]
Chr2:178301784 [GRCh37]
Chr2:2q31.2		 likely pathogenic
NM_003659.4(AGPS):c.562+1G>A single nucleotide variant Rhizomelic chondrodysplasia punctata type 3 [RCV003459996] Chr2:177436885 [GRCh38]
Chr2:178301613 [GRCh37]
Chr2:2q31.2		 likely pathogenic
NM_003659.4(AGPS):c.288G>A (p.Trp96Ter) single nucleotide variant Rhizomelic chondrodysplasia punctata type 3 [RCV003459981] Chr2:177420296 [GRCh38]
Chr2:178285024 [GRCh37]
Chr2:2q31.2		 likely pathogenic
NM_003659.4(AGPS):c.1557_1564del (p.Glu520fs) deletion Rhizomelic chondrodysplasia punctata type 3 [RCV003459986] Chr2:177507980..177507987 [GRCh38]
Chr2:178372708..178372715 [GRCh37]
Chr2:2q31.2		 likely pathogenic
NM_003659.4(AGPS):c.557_562+5del deletion Rhizomelic chondrodysplasia punctata type 3 [RCV003459987] Chr2:177436877..177436887 [GRCh38]
Chr2:178301605..178301615 [GRCh37]
Chr2:2q31.2		 likely pathogenic
NM_003659.4(AGPS):c.1362+10T>G single nucleotide variant not provided [RCV003579173] Chr2:177497775 [GRCh38]
Chr2:178362503 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.1275G>A (p.Gln425=) single nucleotide variant not provided [RCV003579067] Chr2:177493189 [GRCh38]
Chr2:178357917 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.1248A>T (p.Ala416=) single nucleotide variant not provided [RCV003661525] Chr2:177493162 [GRCh38]
Chr2:178357890 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.573T>C (p.Leu191=) single nucleotide variant not provided [RCV003547350] Chr2:177436990 [GRCh38]
Chr2:178301718 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.996+14T>C single nucleotide variant not provided [RCV003688709] Chr2:177462032 [GRCh38]
Chr2:178326760 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.564T>C (p.Gly188=) single nucleotide variant not provided [RCV003691371] Chr2:177436981 [GRCh38]
Chr2:178301709 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.474T>C (p.Ser158=) single nucleotide variant not provided [RCV003576350] Chr2:177436796 [GRCh38]
Chr2:178301524 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.69G>C (p.Ala23=) single nucleotide variant not provided [RCV003691661] Chr2:177392858 [GRCh38]
Chr2:178257586 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.1158A>G (p.Glu386=) single nucleotide variant not provided [RCV003694873] Chr2:177482111 [GRCh38]
Chr2:178346839 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.1285+18A>G single nucleotide variant not provided [RCV003738785] Chr2:177493217 [GRCh38]
Chr2:178357945 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.474T>A (p.Ser158=) single nucleotide variant not provided [RCV003544716] Chr2:177436796 [GRCh38]
Chr2:178301524 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.735G>T (p.Leu245=) single nucleotide variant not provided [RCV003693589] Chr2:177442432 [GRCh38]
Chr2:178307160 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.1607+19C>A single nucleotide variant not provided [RCV003576587] Chr2:177508050 [GRCh38]
Chr2:178372778 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.981C>A (p.Gly327=) single nucleotide variant not provided [RCV003713682] Chr2:177462003 [GRCh38]
Chr2:178326731 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.867A>G (p.Arg289=) single nucleotide variant not provided [RCV003829368] Chr2:177445623 [GRCh38]
Chr2:178310351 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.1107A>T (p.Gly369=) single nucleotide variant not provided [RCV003575254] Chr2:177482060 [GRCh38]
Chr2:178346788 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.1363-19A>C single nucleotide variant not provided [RCV003825966] Chr2:177499599 [GRCh38]
Chr2:178364327 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.213C>T (p.Pro71=) single nucleotide variant not provided [RCV003576665] Chr2:177393002 [GRCh38]
Chr2:178257730 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.801C>T (p.Leu267=) single nucleotide variant not provided [RCV003573214] Chr2:177445557 [GRCh38]
Chr2:178310285 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.870+13T>C single nucleotide variant not provided [RCV003714241] Chr2:177445639 [GRCh38]
Chr2:178310367 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.1065A>T (p.Ser355=) single nucleotide variant not provided [RCV003544192] Chr2:177468484 [GRCh38]
Chr2:178333212 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.345G>C (p.Gly115=) single nucleotide variant not provided [RCV003877194] Chr2:177420353 [GRCh38]
Chr2:178285081 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.1106-4dup duplication not provided [RCV003738771] Chr2:177482048..177482049 [GRCh38]
Chr2:178346776..178346777 [GRCh37]
Chr2:2q31.2		 benign
NM_003659.4(AGPS):c.1546-6del deletion not provided [RCV003690702] Chr2:177507963 [GRCh38]
Chr2:178372691 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.562+12T>A single nucleotide variant not provided [RCV003695109] Chr2:177436896 [GRCh38]
Chr2:178301624 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.709+14C>T single nucleotide variant not provided [RCV003738732] Chr2:177441050 [GRCh38]
Chr2:178305778 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.441+19_441+21del microsatellite not provided [RCV003694470] Chr2:177434432..177434434 [GRCh38]
Chr2:178299160..178299162 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.1476-9T>C single nucleotide variant not provided [RCV003695517] Chr2:177505497 [GRCh38]
Chr2:178370225 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.1608-17C>G single nucleotide variant not provided [RCV003714427] Chr2:177513802 [GRCh38]
Chr2:178378530 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.693T>C (p.Cys231=) single nucleotide variant not provided [RCV003663155] Chr2:177441020 [GRCh38]
Chr2:178305748 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.1821T>C (p.Leu607=) single nucleotide variant not provided [RCV003875803] Chr2:177523771 [GRCh38]
Chr2:178388499 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.637+11C>T single nucleotide variant not provided [RCV003544916] Chr2:177437065 [GRCh38]
Chr2:178301793 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.638-7del deletion not provided [RCV003576918] Chr2:177440953 [GRCh38]
Chr2:178305681 [GRCh37]
Chr2:2q31.2		 benign
NM_003659.4(AGPS):c.261-18A>G single nucleotide variant not provided [RCV003739261] Chr2:177420251 [GRCh38]
Chr2:178284979 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.480A>G (p.Val160=) single nucleotide variant not provided [RCV003662167] Chr2:177436802 [GRCh38]
Chr2:178301530 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.1551G>A (p.Leu517=) single nucleotide variant not provided [RCV003689500] Chr2:177507975 [GRCh38]
Chr2:178372703 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.1698-14del deletion not provided [RCV003714616] Chr2:177521252 [GRCh38]
Chr2:178385980 [GRCh37]
Chr2:2q31.2		 benign
NM_003659.4(AGPS):c.1452G>T (p.Val484=) single nucleotide variant not provided [RCV003576329] Chr2:177499707 [GRCh38]
Chr2:178364435 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.1234-6A>C single nucleotide variant not provided [RCV003879064] Chr2:177493142 [GRCh38]
Chr2:178357870 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.871-20G>A single nucleotide variant not provided [RCV003828045] Chr2:177461873 [GRCh38]
Chr2:178326601 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.936A>T (p.Gly312=) single nucleotide variant not provided [RCV003572510] Chr2:177461958 [GRCh38]
Chr2:178326686 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.201C>T (p.Ala67=) single nucleotide variant not provided [RCV003687324] Chr2:177392990 [GRCh38]
Chr2:178257718 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.1608-3del deletion not provided [RCV003691888] Chr2:177513810 [GRCh38]
Chr2:178378538 [GRCh37]
Chr2:2q31.2		 benign
NM_003659.4(AGPS):c.1611G>A (p.Val537=) single nucleotide variant not provided [RCV003660657] Chr2:177513822 [GRCh38]
Chr2:178378550 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.1363-13T>C single nucleotide variant not provided [RCV003690483] Chr2:177499605 [GRCh38]
Chr2:178364333 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.1545+19C>A single nucleotide variant not provided [RCV003712657] Chr2:177505594 [GRCh38]
Chr2:178370322 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.1607+10A>G single nucleotide variant not provided [RCV003692027] Chr2:177508041 [GRCh38]
Chr2:178372769 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.350+7del deletion not provided [RCV003687780] Chr2:177420363 [GRCh38]
Chr2:178285091 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.1233+13AT[8] microsatellite not provided [RCV003690556] Chr2:177482198..177482199 [GRCh38]
Chr2:178346926..178346927 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.285A>G (p.Gly95=) single nucleotide variant not provided [RCV003878962] Chr2:177420293 [GRCh38]
Chr2:178285021 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.562+13A>G single nucleotide variant not provided [RCV003691507] Chr2:177436897 [GRCh38]
Chr2:178301625 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.123C>G (p.Leu41=) single nucleotide variant not provided [RCV003665351] Chr2:177392912 [GRCh38]
Chr2:178257640 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.1797+15C>T single nucleotide variant not provided [RCV003665301] Chr2:177521383 [GRCh38]
Chr2:178386111 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.1407G>A (p.Leu469=) single nucleotide variant not provided [RCV003579658] Chr2:177499662 [GRCh38]
Chr2:178364390 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.260+8G>T single nucleotide variant not provided [RCV003850382] Chr2:177393057 [GRCh38]
Chr2:178257785 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.1233+15A>G single nucleotide variant not provided [RCV003557948] Chr2:177482201 [GRCh38]
Chr2:178346929 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.1285+12G>A single nucleotide variant not provided [RCV003726701] Chr2:177493211 [GRCh38]
Chr2:178357939 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.1233+19A>G single nucleotide variant not provided [RCV003832461] Chr2:177482205 [GRCh38]
Chr2:178346933 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.709+19G>T single nucleotide variant not provided [RCV003659036] Chr2:177441055 [GRCh38]
Chr2:178305783 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.351-9G>T single nucleotide variant not provided [RCV003700012] Chr2:177434318 [GRCh38]
Chr2:178299046 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.1698-10del deletion not provided [RCV003673962] Chr2:177521257 [GRCh38]
Chr2:178385985 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.351-15T>G single nucleotide variant not provided [RCV003810926] Chr2:177434312 [GRCh38]
Chr2:178299040 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.1607+9T>C single nucleotide variant not provided [RCV003852653] Chr2:177508040 [GRCh38]
Chr2:178372768 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.1285+16T>C single nucleotide variant not provided [RCV003697520] Chr2:177493215 [GRCh38]
Chr2:178357943 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.192G>A (p.Ala64=) single nucleotide variant not provided [RCV003718089] Chr2:177392981 [GRCh38]
Chr2:178257709 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.637+20T>C single nucleotide variant not provided [RCV003856551] Chr2:177437074 [GRCh38]
Chr2:178301802 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.228C>G (p.Ala76=) single nucleotide variant not provided [RCV003840199] Chr2:177393017 [GRCh38]
Chr2:178257745 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.510A>G (p.Glu170=) single nucleotide variant not provided [RCV003560467] Chr2:177436832 [GRCh38]
Chr2:178301560 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.136C>T (p.Leu46=) single nucleotide variant not provided [RCV003855583] Chr2:177392925 [GRCh38]
Chr2:178257653 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.260+15G>A single nucleotide variant not provided [RCV003855593] Chr2:177393064 [GRCh38]
Chr2:178257792 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.1545+19C>T single nucleotide variant not provided [RCV003699822] Chr2:177505594 [GRCh38]
Chr2:178370322 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.1697+16T>C single nucleotide variant not provided [RCV003724375] Chr2:177513924 [GRCh38]
Chr2:178378652 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.1377C>T (p.Asp459=) single nucleotide variant not provided [RCV003664208] Chr2:177499632 [GRCh38]
Chr2:178364360 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.1506G>A (p.Gln502=) single nucleotide variant not provided [RCV003665093] Chr2:177505536 [GRCh38]
Chr2:178370264 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.260+7A>G single nucleotide variant not provided [RCV003836426] Chr2:177393056 [GRCh38]
Chr2:178257784 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.1362+12T>A single nucleotide variant not provided [RCV003672253] Chr2:177497777 [GRCh38]
Chr2:178362505 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.870+12A>G single nucleotide variant not provided [RCV003701114] Chr2:177445638 [GRCh38]
Chr2:178310366 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.783A>C (p.Ser261=) single nucleotide variant not provided [RCV003810824] Chr2:177442480 [GRCh38]
Chr2:178307208 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.710-10A>G single nucleotide variant not provided [RCV003724366] Chr2:177442397 [GRCh38]
Chr2:178307125 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.105G>A (p.Gly35=) single nucleotide variant not provided [RCV003665766] Chr2:177392894 [GRCh38]
Chr2:178257622 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.1798-17G>A single nucleotide variant not provided [RCV003732542] Chr2:177523731 [GRCh38]
Chr2:178388459 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.309C>T (p.Phe103=) single nucleotide variant not provided [RCV003862132] Chr2:177420317 [GRCh38]
Chr2:178285045 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.1286-17C>G single nucleotide variant not provided [RCV003729826] Chr2:177497672 [GRCh38]
Chr2:178362400 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.1855+12T>G single nucleotide variant not provided [RCV003730950] Chr2:177523817 [GRCh38]
Chr2:178388545 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.1797+17G>A single nucleotide variant not provided [RCV003554410] Chr2:177521385 [GRCh38]
Chr2:178386113 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.1697+23_1697+28del deletion not provided [RCV003562666] Chr2:177513928..177513933 [GRCh38]
Chr2:178378656..178378661 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.1896T>G (p.Ser632=) single nucleotide variant not provided [RCV003681299] Chr2:177538114 [GRCh38]
Chr2:178402842 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.261-8C>T single nucleotide variant not provided [RCV003679525] Chr2:177420261 [GRCh38]
Chr2:178284989 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.1797+19A>G single nucleotide variant not provided [RCV003736066] Chr2:177521387 [GRCh38]
Chr2:178386115 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.1020A>G (p.Thr340=) single nucleotide variant not provided [RCV003704494] Chr2:177468439 [GRCh38]
Chr2:178333167 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.562+19G>A single nucleotide variant not provided [RCV003670557] Chr2:177436903 [GRCh38]
Chr2:178301631 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.372T>C (p.Gly124=) single nucleotide variant not provided [RCV003822337] Chr2:177434348 [GRCh38]
Chr2:178299076 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.1419T>C (p.Asp473=) single nucleotide variant not provided [RCV003680868] Chr2:177499674 [GRCh38]
Chr2:178364402 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.1341A>G (p.Leu447=) single nucleotide variant not provided [RCV003683761] Chr2:177497744 [GRCh38]
Chr2:178362472 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.1234-20T>C single nucleotide variant not provided [RCV003732910] Chr2:177493128 [GRCh38]
Chr2:178357856 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.93G>T (p.Pro31=) single nucleotide variant not provided [RCV003719334] Chr2:177392882 [GRCh38]
Chr2:178257610 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.84C>T (p.Asp28=) single nucleotide variant not provided [RCV003726867] Chr2:177392873 [GRCh38]
Chr2:178257601 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.681A>G (p.Lys227=) single nucleotide variant not provided [RCV003870767] Chr2:177441008 [GRCh38]
Chr2:178305736 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.351-10T>G single nucleotide variant not provided [RCV003557053] Chr2:177434317 [GRCh38]
Chr2:178299045 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.789+19T>C single nucleotide variant not provided [RCV003870966] Chr2:177442505 [GRCh38]
Chr2:178307233 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.1546-4A>T single nucleotide variant not provided [RCV003675906] Chr2:177507966 [GRCh38]
Chr2:178372694 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.1497T>C (p.Asp499=) single nucleotide variant not provided [RCV003705197] Chr2:177505527 [GRCh38]
Chr2:178370255 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.1476-5T>C single nucleotide variant not provided [RCV003682683] Chr2:177505501 [GRCh38]
Chr2:178370229 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.1608-20A>G single nucleotide variant not provided [RCV003557252] Chr2:177513799 [GRCh38]
Chr2:178378527 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.563-14T>C single nucleotide variant not provided [RCV003556610] Chr2:177436966 [GRCh38]
Chr2:178301694 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.1545+20C>G single nucleotide variant not provided [RCV003705561] Chr2:177505595 [GRCh38]
Chr2:178370323 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.1286-14T>C single nucleotide variant not provided [RCV003845933] Chr2:177497675 [GRCh38]
Chr2:178362403 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.1233+18T>C single nucleotide variant not provided [RCV003554730] Chr2:177482204 [GRCh38]
Chr2:178346932 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.1363-5T>G single nucleotide variant not provided [RCV003707116] Chr2:177499613 [GRCh38]
Chr2:178364341 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.680A>G (p.Lys227Arg) single nucleotide variant not provided [RCV003737842] Chr2:177441007 [GRCh38]
Chr2:178305735 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_003659.4(AGPS):c.997-11G>T single nucleotide variant not provided [RCV003871839] Chr2:177468405 [GRCh38]
Chr2:178333133 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.820T>C (p.Leu274=) single nucleotide variant not provided [RCV003718670] Chr2:177445576 [GRCh38]
Chr2:178310304 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.1545+20C>T single nucleotide variant not provided [RCV003563094] Chr2:177505595 [GRCh38]
Chr2:178370323 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.225C>T (p.Pro75=) single nucleotide variant not provided [RCV003711183] Chr2:177393014 [GRCh38]
Chr2:178257742 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.1697+8T>G single nucleotide variant not provided [RCV003866755] Chr2:177513916 [GRCh38]
Chr2:178378644 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.345G>A (p.Gly115=) single nucleotide variant not provided [RCV003870480] Chr2:177420353 [GRCh38]
Chr2:178285081 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.297T>C (p.Asn99=) single nucleotide variant not provided [RCV003564288] Chr2:177420305 [GRCh38]
Chr2:178285033 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.1107A>G (p.Gly369=) single nucleotide variant not provided [RCV003676606] Chr2:177482060 [GRCh38]
Chr2:178346788 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.871-16A>T single nucleotide variant not provided [RCV003732523] Chr2:177461877 [GRCh38]
Chr2:178326605 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.597A>G (p.Glu199=) single nucleotide variant not provided [RCV003868300] Chr2:177437014 [GRCh38]
Chr2:178301742 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.1233+13_1233+14insATA insertion not provided [RCV003844807] Chr2:177482198..177482199 [GRCh38]
Chr2:178346926..178346927 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.441+12A>G single nucleotide variant not provided [RCV003865228] Chr2:177434429 [GRCh38]
Chr2:178299157 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.1286-19A>T single nucleotide variant not provided [RCV003555590] Chr2:177497670 [GRCh38]
Chr2:178362398 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.1599T>C (p.Pro533=) single nucleotide variant not provided [RCV003684886] Chr2:177508023 [GRCh38]
Chr2:178372751 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.563-15T>G single nucleotide variant not provided [RCV003722686] Chr2:177436965 [GRCh38]
Chr2:178301693 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.48C>A (p.Gly16=) single nucleotide variant not provided [RCV003542722] Chr2:177392837 [GRCh38]
Chr2:178257565 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.1464T>A (p.Ala488=) single nucleotide variant not provided [RCV003550372] Chr2:177499719 [GRCh38]
Chr2:178364447 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.996+8T>C single nucleotide variant not provided [RCV003738536] Chr2:177462026 [GRCh38]
Chr2:178326754 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.1455T>C (p.Tyr485=) single nucleotide variant not provided [RCV003863837] Chr2:177499710 [GRCh38]
Chr2:178364438 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.709+13C>G single nucleotide variant not provided [RCV003738555] Chr2:177441049 [GRCh38]
Chr2:178305777 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.997-15T>C single nucleotide variant not provided [RCV003721661] Chr2:177468401 [GRCh38]
Chr2:178333129 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.1134A>C (p.Thr378=) single nucleotide variant not provided [RCV003722299] Chr2:177482087 [GRCh38]
Chr2:178346815 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.1692A>T (p.Thr564=) single nucleotide variant not provided [RCV003681411] Chr2:177513903 [GRCh38]
Chr2:178378631 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.1363-16T>A single nucleotide variant not provided [RCV003866367] Chr2:177499602 [GRCh38]
Chr2:178364330 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.1234-15_1234-8del deletion not provided [RCV003736109] Chr2:177493128..177493135 [GRCh38]
Chr2:178357856..178357863 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.1607+12del deletion not provided [RCV003707099] Chr2:177508043 [GRCh38]
Chr2:178372771 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.709+10G>T single nucleotide variant not provided [RCV003684575] Chr2:177441046 [GRCh38]
Chr2:178305774 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.1106-11C>G single nucleotide variant not provided [RCV003820247] Chr2:177482048 [GRCh38]
Chr2:178346776 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.81G>C (p.Arg27=) single nucleotide variant not provided [RCV003677943] Chr2:177392870 [GRCh38]
Chr2:178257598 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.1105+12del deletion not provided [RCV003551117] Chr2:177468536 [GRCh38]
Chr2:178333264 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.1125A>G (p.Thr375=) single nucleotide variant not provided [RCV003708395] Chr2:177482078 [GRCh38]
Chr2:178346806 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.33T>A (p.Thr11=) single nucleotide variant not provided [RCV003863387] Chr2:177392822 [GRCh38]
Chr2:178257550 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.1608-16A>G single nucleotide variant not provided [RCV003564281] Chr2:177513803 [GRCh38]
Chr2:178378531 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.1546-16G>A single nucleotide variant not provided [RCV003710315] Chr2:177507954 [GRCh38]
Chr2:178372682 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.48C>T (p.Gly16=) single nucleotide variant not provided [RCV003568900] Chr2:177392837 [GRCh38]
Chr2:178257565 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.1798-14G>C single nucleotide variant not provided [RCV003848517] Chr2:177523734 [GRCh38]
Chr2:178388462 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.563-13A>G single nucleotide variant not provided [RCV003823438] Chr2:177436967 [GRCh38]
Chr2:178301695 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.637+9T>C single nucleotide variant not provided [RCV003564406] Chr2:177437063 [GRCh38]
Chr2:178301791 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.1363-17T>A single nucleotide variant not provided [RCV003735651] Chr2:177499601 [GRCh38]
Chr2:178364329 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.1233+16T>C single nucleotide variant not provided [RCV003707469] Chr2:177482202 [GRCh38]
Chr2:178346930 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.1923T>C (p.Ser641=) single nucleotide variant not provided [RCV003566110] Chr2:177538141 [GRCh38]
Chr2:178402869 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.1071C>A (p.Gly357=) single nucleotide variant not provided [RCV003846027] Chr2:177468490 [GRCh38]
Chr2:178333218 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.997-19C>T single nucleotide variant not provided [RCV003730644] Chr2:177468397 [GRCh38]
Chr2:178333125 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.996+8T>A single nucleotide variant not provided [RCV003679981] Chr2:177462026 [GRCh38]
Chr2:178326754 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.1704G>T (p.Thr568=) single nucleotide variant not provided [RCV003675973] Chr2:177521275 [GRCh38]
Chr2:178386003 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.1290T>C (p.His430=) single nucleotide variant not provided [RCV003566576] Chr2:177497693 [GRCh38]
Chr2:178362421 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.1106-10T>C single nucleotide variant not provided [RCV003680249] Chr2:177482049 [GRCh38]
Chr2:178346777 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.1475+17A>G single nucleotide variant not provided [RCV003562582] Chr2:177499747 [GRCh38]
Chr2:178364475 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.1286-12_1286-11del deletion not provided [RCV003562819] Chr2:177497673..177497674 [GRCh38]
Chr2:178362401..178362402 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.442-16C>G single nucleotide variant not provided [RCV003736206] Chr2:177436748 [GRCh38]
Chr2:178301476 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.350+8T>A single nucleotide variant not provided [RCV003866511] Chr2:177420366 [GRCh38]
Chr2:178285094 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.1434T>A (p.Leu478=) single nucleotide variant not provided [RCV003860187] Chr2:177499689 [GRCh38]
Chr2:178364417 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.1607+18G>C single nucleotide variant not provided [RCV003705912] Chr2:177508049 [GRCh38]
Chr2:178372777 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.441+19T>A single nucleotide variant not provided [RCV003552813] Chr2:177434436 [GRCh38]
Chr2:178299164 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.1632A>T (p.Val544=) single nucleotide variant not provided [RCV003566751] Chr2:177513843 [GRCh38]
Chr2:178378571 [GRCh37]
Chr2:2q31.2		 likely benign
NM_003659.4(AGPS):c.1536dup (p.Tyr513fs) duplication Rhizomelic chondrodysplasia punctata type 3 [RCV003467863] Chr2:177505565..177505566 [GRCh38]
Chr2:178370293..178370294 [GRCh37]
Chr2:2q31.2		 likely pathogenic
NM_003659.4(AGPS):c.709+4G>C single nucleotide variant not specified [RCV003155717] Chr2:177441040 [GRCh38]
Chr2:178305768 [GRCh37]
Chr2:2q31.2		 uncertain significance
NM_003659.4(AGPS):c.610C>T (p.Arg204Ter) single nucleotide variant Rhizomelic chondrodysplasia punctata type 3 [RCV003467859] Chr2:177437027 [GRCh38]
Chr2:178301755 [GRCh37]
Chr2:2q31.2		 likely pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1888
Count of miRNA genes:895
Interacting mature miRNAs:1065
Transcripts:ENST00000264167, ENST00000409888, ENST00000460342
Prediction methods:Miranda, Rnahybrid
Result types:miRGate_prediction

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

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

Markers in Region
RH65564  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372178,408,337 - 178,408,456UniSTSGRCh37
Build 362178,116,583 - 178,116,702RGDNCBI36
Celera2172,011,182 - 172,011,301RGD
Cytogenetic Map2q31.2UniSTS
HuRef2170,279,404 - 170,279,523UniSTS
GeneMap99-GB4 RH Map2575.13UniSTS
RH69481  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372178,406,421 - 178,406,674UniSTSGRCh37
Build 362178,114,667 - 178,114,920RGDNCBI36
Celera2172,009,265 - 172,009,518RGD
Cytogenetic Map2q31.2UniSTS
HuRef2170,277,487 - 170,277,740UniSTS
GeneMap99-GB4 RH Map2575.13UniSTS
WI-15756  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372178,404,045 - 178,404,150UniSTSGRCh37
Build 362178,112,291 - 178,112,396RGDNCBI36
Celera2172,006,889 - 172,006,994RGD
Cytogenetic Map2q31.2UniSTS
HuRef2170,275,111 - 170,275,216UniSTS
GeneMap99-GB4 RH Map2574.02UniSTS
Whitehead-RH Map2883.4UniSTS


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 1299 1027 449 264 816 185 2103 608 1042 266 893 750 96 1 831 1240 5 2
Low 1140 1943 1277 360 1117 280 2254 1586 2692 153 567 863 79 373 1548 1
Below cutoff 21 18 3

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_008968 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_003659 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011512041 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011512042 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011512043 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047446104 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047446105 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054344265 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054344266 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001739007 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA832354 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC016762 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC019080 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC073834 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK296239 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK309714 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK314259 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK316240 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL359559 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY544121 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC141820 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ007087 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471058 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068276 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR749699 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC402978 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y09443 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000264167   ⟹   ENSP00000264167
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2177,392,773 - 177,543,834 (+)Ensembl
RefSeq Acc Id: ENST00000409888   ⟹   ENSP00000386688
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2177,392,768 - 177,538,418 (+)Ensembl
RefSeq Acc Id: ENST00000460342
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2177,392,748 - 177,462,352 (+)Ensembl
RefSeq Acc Id: ENST00000637633   ⟹   ENSP00000490844
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2177,392,746 - 177,559,299 (+)Ensembl
RefSeq Acc Id: ENST00000642466   ⟹   ENSP00000494433
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2177,392,773 - 177,559,299 (+)Ensembl
RefSeq Acc Id: ENST00000679421
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2177,392,760 - 177,543,592 (+)Ensembl
RefSeq Acc Id: ENST00000679459   ⟹   ENSP00000506137
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2177,392,746 - 177,567,024 (+)Ensembl
RefSeq Acc Id: ENST00000679478   ⟹   ENSP00000506484
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2177,393,036 - 177,543,765 (+)Ensembl
RefSeq Acc Id: ENST00000679639
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2177,393,062 - 177,462,337 (+)Ensembl
RefSeq Acc Id: ENST00000679994   ⟹   ENSP00000504957
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2177,393,276 - 177,543,834 (+)Ensembl
RefSeq Acc Id: ENST00000680028
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2177,393,112 - 177,543,592 (+)Ensembl
RefSeq Acc Id: ENST00000680155   ⟹   ENSP00000505333
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2177,393,029 - 177,543,765 (+)Ensembl
RefSeq Acc Id: ENST00000680390
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2177,476,668 - 177,539,433 (+)Ensembl
RefSeq Acc Id: ENST00000680677
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2177,392,760 - 177,442,810 (+)Ensembl
RefSeq Acc Id: ENST00000680705
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2177,392,746 - 177,508,229 (+)Ensembl
RefSeq Acc Id: ENST00000680770   ⟹   ENSP00000505536
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2177,392,746 - 177,524,950 (+)Ensembl
RefSeq Acc Id: ENST00000680893   ⟹   ENSP00000505929
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2177,392,760 - 177,543,592 (+)Ensembl
RefSeq Acc Id: ENST00000680910
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2177,392,760 - 177,499,883 (+)Ensembl
RefSeq Acc Id: ENST00000681028   ⟹   ENSP00000506323
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2177,393,062 - 177,539,742 (+)Ensembl
RefSeq Acc Id: ENST00000681032   ⟹   ENSP00000505205
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2177,392,760 - 177,543,592 (+)Ensembl
RefSeq Acc Id: ENST00000681300
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2177,476,688 - 177,539,433 (+)Ensembl
RefSeq Acc Id: ENST00000681449   ⟹   ENSP00000505342
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2177,393,041 - 177,538,243 (+)Ensembl
RefSeq Acc Id: ENST00000681565   ⟹   ENSP00000505620
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2177,392,760 - 177,543,813 (+)Ensembl
RefSeq Acc Id: ENST00000681752   ⟹   ENSP00000504994
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2177,392,747 - 177,543,592 (+)Ensembl
RefSeq Acc Id: ENST00000681891
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2177,393,043 - 177,543,592 (+)Ensembl
RefSeq Acc Id: NM_003659   ⟹   NP_003650
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382177,392,773 - 177,543,834 (+)NCBI
GRCh372178,257,471 - 178,408,564 (+)ENTREZGENE
GRCh372178,257,471 - 178,408,564 (+)NCBI
Build 362177,965,731 - 178,112,411 (+)NCBI Archive
HuRef2170,128,203 - 170,279,631 (+)ENTREZGENE
CHM1_12178,262,812 - 178,413,489 (+)NCBI
T2T-CHM13v2.02177,875,047 - 178,026,109 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011512041   ⟹   XP_011510343
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382177,393,055 - 177,543,834 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047446104   ⟹   XP_047302060
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382177,395,574 - 177,543,834 (+)NCBI
RefSeq Acc Id: XM_047446105   ⟹   XP_047302061
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382177,392,773 - 177,482,114 (+)NCBI
RefSeq Acc Id: XM_054344265   ⟹   XP_054200240
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02177,875,329 - 178,026,109 (+)NCBI
RefSeq Acc Id: XM_054344266   ⟹   XP_054200241
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02177,875,047 - 177,964,414 (+)NCBI
Reference Protein Sequences
RefSeq Acc Id: NP_003650   ⟸   NM_003659
- Peptide Label: precursor
- UniProtKB: A5D8U9 (UniProtKB/Swiss-Prot),   Q2TU35 (UniProtKB/Swiss-Prot),   O00116 (UniProtKB/Swiss-Prot),   A0A7P0T984 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011510343   ⟸   XM_011512041
- Peptide Label: isoform X1
- UniProtKB: B7Z3Q4 (UniProtKB/TrEMBL),   A0A7P0T984 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000490844   ⟸   ENST00000637633
RefSeq Acc Id: ENSP00000494433   ⟸   ENST00000642466
RefSeq Acc Id: ENSP00000386688   ⟸   ENST00000409888
RefSeq Acc Id: ENSP00000264167   ⟸   ENST00000264167
RefSeq Acc Id: ENSP00000505205   ⟸   ENST00000681032
RefSeq Acc Id: ENSP00000506323   ⟸   ENST00000681028
RefSeq Acc Id: ENSP00000506484   ⟸   ENST00000679478
RefSeq Acc Id: ENSP00000505342   ⟸   ENST00000681449
RefSeq Acc Id: ENSP00000505333   ⟸   ENST00000680155
RefSeq Acc Id: ENSP00000505620   ⟸   ENST00000681565
RefSeq Acc Id: ENSP00000505929   ⟸   ENST00000680893
RefSeq Acc Id: ENSP00000505536   ⟸   ENST00000680770
RefSeq Acc Id: ENSP00000506137   ⟸   ENST00000679459
RefSeq Acc Id: ENSP00000504994   ⟸   ENST00000681752
RefSeq Acc Id: ENSP00000504957   ⟸   ENST00000679994
RefSeq Acc Id: XP_047302061   ⟸   XM_047446105
- Peptide Label: isoform X2
RefSeq Acc Id: XP_047302060   ⟸   XM_047446104
- Peptide Label: isoform X1
- UniProtKB: B7Z3Q4 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054200241   ⟸   XM_054344266
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054200240   ⟸   XM_054344265
- Peptide Label: isoform X1
- UniProtKB: B7Z3Q4 (UniProtKB/TrEMBL)
Protein Domains
FAD-binding oxidoreductase/transferase type 4 C-   FAD-binding PCMH-type

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-O00116-F1-model_v2 AlphaFold O00116 1-658 view protein structure

Promoters
RGD ID:6862152
Promoter ID:EPDNEW_H4241
Type:initiation region
Name:AGPS_1
Description:alkylglycerone phosphate synthase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382177,392,773 - 177,392,833EPDNEW
RGD ID:6796760
Promoter ID:HG_KWN:36093
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000409888,   OTTHUMT00000255730
Position:
Human AssemblyChrPosition (strand)Source
Build 362177,965,471 - 177,965,971 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:327 AgrOrtholog
COSMIC AGPS COSMIC
Ensembl Genes ENSG00000018510 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000264167 ENTREZGENE
  ENST00000264167.11 UniProtKB/Swiss-Prot
  ENST00000409888.1 UniProtKB/TrEMBL
  ENST00000637633.2 UniProtKB/TrEMBL
  ENST00000642466.2 UniProtKB/TrEMBL
  ENST00000679459.1 UniProtKB/TrEMBL
  ENST00000679478 ENTREZGENE
  ENST00000679478.1 UniProtKB/TrEMBL
  ENST00000679994.1 UniProtKB/TrEMBL
  ENST00000680155.1 UniProtKB/TrEMBL
  ENST00000680770.1 UniProtKB/TrEMBL
  ENST00000680893.1 UniProtKB/TrEMBL
  ENST00000681028.1 UniProtKB/TrEMBL
  ENST00000681032.1 UniProtKB/TrEMBL
  ENST00000681449 ENTREZGENE
  ENST00000681449.1 UniProtKB/TrEMBL
  ENST00000681565 ENTREZGENE
  ENST00000681565.1 UniProtKB/TrEMBL
  ENST00000681752.1 UniProtKB/TrEMBL
Gene3D-CATH 3.30.160.650 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.30.300.330 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.30.43.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.30.465.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.30.70.3450 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000018510 GTEx
HGNC ID HGNC:327 ENTREZGENE
Human Proteome Map AGPS Human Proteome Map
InterPro Alkyl-DHAP_Synthase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FAD-bd_PCMH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FAD-bd_PCMH-like_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FAD-bd_PCMH_sub1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FAD-bd_PCMH_sub2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FAD-linked_Oxase-like_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FAD-linked_oxidase_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Oxid_FAD_bind_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Vanillyl_alc_oxidase_C-sub2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:8540 UniProtKB/Swiss-Prot
NCBI Gene 8540 ENTREZGENE
OMIM 603051 OMIM
PANTHER ALKYLDIHYDROXYACETONEPHOSPHATE SYNTHASE, PEROXISOMAL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR46568 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam FAD-oxidase_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FAD_binding_4 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA24624 PharmGKB
PROSITE FAD_PCMH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF55103 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF56176 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A1B0GWA2_HUMAN UniProtKB/TrEMBL
  A0A2R8YEL0_HUMAN UniProtKB/TrEMBL
  A0A7P0T857_HUMAN UniProtKB/TrEMBL
  A0A7P0T8Q7_HUMAN UniProtKB/TrEMBL
  A0A7P0T984 ENTREZGENE, UniProtKB/TrEMBL
  A0A7P0T9C9_HUMAN UniProtKB/TrEMBL
  A0A7P0TA54_HUMAN UniProtKB/TrEMBL
  A0A7P0TAL3_HUMAN UniProtKB/TrEMBL
  A0A7P0TAU9_HUMAN UniProtKB/TrEMBL
  A5D8U9 ENTREZGENE
  ADAS_HUMAN UniProtKB/Swiss-Prot
  B7Z3Q4 ENTREZGENE, UniProtKB/TrEMBL
  B8ZZ81_HUMAN UniProtKB/TrEMBL
  O00116 ENTREZGENE
  Q2TU35 ENTREZGENE
  Q53S12_HUMAN UniProtKB/TrEMBL
  Q53SG6_HUMAN UniProtKB/TrEMBL
  Q53SN7_HUMAN UniProtKB/TrEMBL
UniProt Secondary A5D8U9 UniProtKB/Swiss-Prot
  Q2TU35 UniProtKB/Swiss-Prot