TRIM37 (tripartite motif containing 37) - Rat Genome Database

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Gene: TRIM37 (tripartite motif containing 37) Homo sapiens
Analyze
Symbol: TRIM37
Name: tripartite motif containing 37
RGD ID: 1318066
HGNC Page HGNC:7523
Description: Enables several functions, including histone H2AK119 ubiquitin ligase activity; protein homodimerization activity; and tumor necrosis factor receptor binding activity. Involved in several processes, including aggresome assembly; protein ubiquitination; and regulation of DNA-templated transcription. Located in several cellular components, including ESC/E(Z) complex; aggresome; and peroxisome. Is active in peroxisomal membrane. Implicated in mulibrey nanism.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: E3 ubiquitin-protein ligase TRIM37; KIAA0898; MUL; mulibrey nanism protein; POB1; RING-B-box-coiled-coil protein; RING-type E3 ubiquitin transferase TRIM37; TEF3; tripartite motif-containing 37; tripartite motif-containing protein 37
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381758,967,201 - 59,106,880 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1758,982,638 - 59,106,921 (-)EnsemblGRCh38hg38GRCh38
GRCh371757,060,010 - 57,184,241 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361754,414,792 - 54,539,011 (-)NCBINCBI36Build 36hg18NCBI36
Build 341754,430,346 - 54,539,011NCBI
Celera1753,522,345 - 53,646,906 (-)NCBICelera
Cytogenetic Map17q22NCBI
HuRef1752,420,495 - 52,544,850 (-)NCBIHuRef
CHM1_11757,125,449 - 57,249,763 (-)NCBICHM1_1
T2T-CHM13v2.01759,835,276 - 59,974,976 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
aggresome  (IBA,IDA)
chromosome  (IEA)
cytoplasm  (IDA,IEA)
cytosol  (IDA)
ESC/E(Z) complex  (IBA,IDA)
membrane  (IEA)
perinuclear region of cytoplasm  (IEA)
peroxisomal membrane  (IBA,IDA,IEA)
peroxisome  (IDA,IEA)

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. Gene encoding a new RING-B-box-Coiled-coil protein is mutated in mulibrey nanism. Avela K, etal., Nat Genet. 2000 Jul;25(3):298-301.
2. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
3. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
4. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
5. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
6. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
7. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:9106536   PMID:10048485   PMID:11279055   PMID:11331580   PMID:11578880   PMID:11938494   PMID:12477932   PMID:12754710   PMID:14702039   PMID:15108285   PMID:15146197   PMID:15489334  
PMID:15885686   PMID:16189514   PMID:16306379   PMID:16310976   PMID:16713569   PMID:17081983   PMID:17100991   PMID:17551331   PMID:19322201   PMID:19329943   PMID:19447967   PMID:19549727  
PMID:19690564   PMID:21143188   PMID:21873635   PMID:21988832   PMID:22939624   PMID:23077300   PMID:23385855   PMID:23443559   PMID:23666239   PMID:23769972   PMID:24255178   PMID:24317724  
PMID:24613305   PMID:24722188   PMID:25416956   PMID:25470042   PMID:26186194   PMID:26208456   PMID:26395261   PMID:26638075   PMID:26673895   PMID:26871637   PMID:26972000   PMID:27107014  
PMID:27832544   PMID:28081740   PMID:28098873   PMID:28416489   PMID:28514442   PMID:28718761   PMID:28724525   PMID:28815877   PMID:29324313   PMID:29395067   PMID:29507755   PMID:29509190  
PMID:29940807   PMID:30021884   PMID:30043491   PMID:30254148   PMID:31301768   PMID:31413325   PMID:31452512   PMID:31586073   PMID:31691373   PMID:32296183   PMID:32353567   PMID:32572790  
PMID:32707033   PMID:32855208   PMID:32908304   PMID:32908313   PMID:32916597   PMID:33194618   PMID:33259899   PMID:33491649   PMID:33728810   PMID:33839419   PMID:33961781   PMID:33983387  
PMID:34079125   PMID:34130705   PMID:34611473   PMID:35163097   PMID:35220664   PMID:35310029   PMID:35563538   PMID:35864973   PMID:35914814   PMID:35921902   PMID:35950370   PMID:36252649  
PMID:36923153   PMID:36961398   PMID:37689310   PMID:38225382   PMID:38580884   PMID:38884661  


Genomics

Comparative Map Data
TRIM37
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381758,967,201 - 59,106,880 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1758,982,638 - 59,106,921 (-)EnsemblGRCh38hg38GRCh38
GRCh371757,060,010 - 57,184,241 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361754,414,792 - 54,539,011 (-)NCBINCBI36Build 36hg18NCBI36
Build 341754,430,346 - 54,539,011NCBI
Celera1753,522,345 - 53,646,906 (-)NCBICelera
Cytogenetic Map17q22NCBI
HuRef1752,420,495 - 52,544,850 (-)NCBIHuRef
CHM1_11757,125,449 - 57,249,763 (-)NCBICHM1_1
T2T-CHM13v2.01759,835,276 - 59,974,976 (-)NCBIT2T-CHM13v2.0
Trim37
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391187,017,675 - 87,141,700 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1187,017,903 - 87,111,509 (+)EnsemblGRCm39 Ensembl
GRCm381187,126,790 - 87,250,874 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1187,127,077 - 87,220,683 (+)EnsemblGRCm38mm10GRCm38
MGSCv371186,940,579 - 87,034,184 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361186,943,272 - 87,036,877 (+)NCBIMGSCv36mm8
Celera1196,729,142 - 96,822,534 (+)NCBICelera
Cytogenetic Map11CNCBI
cM Map1151.93NCBI
Trim37
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81072,440,672 - 72,572,831 (+)NCBIGRCr8
mRatBN7.21071,943,384 - 72,075,563 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1071,943,375 - 72,075,558 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1076,553,912 - 76,686,077 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01076,058,816 - 76,190,978 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01071,523,340 - 71,655,486 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01074,436,165 - 74,568,636 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1074,436,208 - 74,568,493 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01075,532,027 - 75,664,501 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41075,404,911 - 75,537,072 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11075,419,046 - 75,520,023 (+)NCBI
Celera1070,859,603 - 70,991,657 (+)NCBICelera
Cytogenetic Map10q26NCBI
Trim37
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554513,878,416 - 3,989,208 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554513,839,757 - 4,014,178 (+)NCBIChiLan1.0ChiLan1.0
TRIM37
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21975,150,473 - 75,273,925 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11779,961,021 - 80,087,929 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01753,070,235 - 53,178,209 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11757,904,813 - 58,027,160 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1757,904,813 - 58,027,100 (-)Ensemblpanpan1.1panPan2
TRIM37
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1933,446,903 - 33,687,650 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl933,446,918 - 33,687,555 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha932,681,076 - 32,921,453 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0934,252,571 - 34,493,167 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl934,252,586 - 34,493,173 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1933,165,440 - 33,278,937 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0933,327,586 - 33,567,948 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0933,414,104 - 33,654,617 (-)NCBIUU_Cfam_GSD_1.0
Trim37
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440560232,720,472 - 32,911,203 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049364904,163,719 - 4,354,932 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049364904,163,871 - 4,310,016 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
TRIM37
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1235,260,154 - 35,393,430 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11235,259,292 - 35,393,464 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21237,114,377 - 37,162,720 (+)NCBISscrofa10.2Sscrofa10.2susScr3
TRIM37
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11634,310,090 - 34,446,887 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1634,310,159 - 34,436,177 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660775,112,103 - 5,249,679 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Trim37
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_004624871912,140 - 1,021,354 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_004624871899,931 - 1,049,583 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in TRIM37
667 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_015294.6(TRIM37):c.493-2A>G single nucleotide variant Mulibrey nanism syndrome [RCV000005552]|not provided [RCV003555925] Chr17:59079879 [GRCh38]
Chr17:57157240 [GRCh37]
Chr17:17q22		 pathogenic
TRIM37, 1-BP DEL, 2212G deletion Mulibrey nanism syndrome [RCV000005553] Chr17:17q22-q23 pathogenic
TRIM37, 5-BP DEL, NT838 deletion Mulibrey nanism syndrome [RCV000005554] Chr17:17q22-q23 pathogenic
TRIM37, 1-BP INS, 1346A insertion Mulibrey nanism syndrome [RCV000005555] Chr17:17q22-q23 pathogenic
TRIM37, 8-BP DEL, NT855 deletion Mulibrey nanism syndrome [RCV000005556] Chr17:17q22-q23 pathogenic
NM_015294.6(TRIM37):c.326G>C (p.Cys109Ser) single nucleotide variant Mulibrey nanism syndrome [RCV000005557]|not specified [RCV004689410] Chr17:59084045 [GRCh38]
Chr17:57161406 [GRCh37]
Chr17:17q22		 pathogenic|uncertain significance
NM_015294.6(TRIM37):c.1447G>A (p.Glu483Lys) single nucleotide variant Inborn genetic diseases [RCV003278939]|not provided [RCV000594010] Chr17:59049261 [GRCh38]
Chr17:57126622 [GRCh37]
Chr17:17q22		 uncertain significance
NM_015294.6(TRIM37):c.860G>A (p.Ser287Asn) single nucleotide variant Mulibrey nanism syndrome [RCV000005558]|not provided [RCV000729885] Chr17:59064355 [GRCh38]
Chr17:57141716 [GRCh37]
Chr17:17q22		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_001005207.2(TRIM37):c.124-6156G>A single nucleotide variant Lung cancer [RCV000100575] Chr17:59097496 [GRCh38]
Chr17:57174857 [GRCh37]
Chr17:17q22		 uncertain significance
NM_015294.6(TRIM37):c.1037_1040dup (p.Met347fs) duplication Mulibrey nanism syndrome [RCV000049976] Chr17:59057033..59057034 [GRCh38]
Chr17:57134394..57134395 [GRCh37]
Chr17:17q22		 likely pathogenic
NM_015294.6(TRIM37):c.1346dup (p.Ser450fs) duplication Mulibrey nanism syndrome [RCV000049977] Chr17:59049361..59049362 [GRCh38]
Chr17:57126722..57126723 [GRCh37]
Chr17:17q22		 pathogenic|likely pathogenic
NM_015294.6(TRIM37):c.1411C>T (p.Arg471Ter) single nucleotide variant Mulibrey nanism syndrome [RCV000049978]|not provided [RCV000734622] Chr17:59049297 [GRCh38]
Chr17:57126658 [GRCh37]
Chr17:17q22		 pathogenic|likely pathogenic
NM_015294.6(TRIM37):c.1894_1895del (p.Glu632fs) deletion Mulibrey nanism syndrome [RCV000049979]|not provided [RCV002514258] Chr17:59031949..59031950 [GRCh38]
Chr17:57109310..57109311 [GRCh37]
Chr17:17q22		 pathogenic|likely pathogenic
NM_015294.6(TRIM37):c.2056C>T (p.Arg686Ter) single nucleotide variant Mulibrey nanism syndrome [RCV000049980] Chr17:59028616 [GRCh38]
Chr17:57105977 [GRCh37]
Chr17:17q22		 pathogenic|likely pathogenic
NM_015294.6(TRIM37):c.2212del (p.Glu738fs) deletion Mulibrey nanism syndrome [RCV000049981]|not provided [RCV003556135] Chr17:59028460 [GRCh38]
Chr17:57105821 [GRCh37]
Chr17:17q22		 pathogenic
NM_015294.6(TRIM37):c.227T>C (p.Leu76Pro) single nucleotide variant Mulibrey nanism syndrome [RCV000049982]|TRIM37-related disorder [RCV003415819] Chr17:59088345 [GRCh38]
Chr17:57165706 [GRCh37]
Chr17:17q22		 likely pathogenic|uncertain significance
NM_015294.6(TRIM37):c.745C>T (p.Gln249Ter) single nucleotide variant Mulibrey nanism syndrome [RCV000049983]|not provided [RCV003556136] Chr17:59070887 [GRCh38]
Chr17:57148248 [GRCh37]
Chr17:17q22		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_015294.6(TRIM37):c.810-1G>A single nucleotide variant Mulibrey nanism syndrome [RCV000049984] Chr17:59064406 [GRCh38]
Chr17:57141767 [GRCh37]
Chr17:17q22		 pathogenic|likely pathogenic
NM_015294.6(TRIM37):c.838_842del (p.Thr280fs) deletion Mulibrey nanism syndrome [RCV000049985] Chr17:59064373..59064377 [GRCh38]
Chr17:57141734..57141738 [GRCh37]
Chr17:17q22		 pathogenic|likely pathogenic
NM_015294.6(TRIM37):c.965G>T (p.Gly322Val) single nucleotide variant Mulibrey nanism syndrome [RCV000049987] Chr17:59061086 [GRCh38]
Chr17:57138447 [GRCh37]
Chr17:17q22		 likely pathogenic
GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3 copy number gain See cases [RCV000050957] Chr17:36449220..68170214 [GRCh38]
Chr17:48563237..65936105 [GRCh37]
Chr17:45918236..63677950 [NCBI36]
Chr17:17q21.33-24.2		 pathogenic
GRCh38/hg38 17q23.2-25.3(chr17:36449220-83086677)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052483]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052483]|See cases [RCV000052483] Chr17:36449220..83086677 [GRCh38]
Chr17:58617905..81044553 [GRCh37]
Chr17:55972687..78637842 [NCBI36]
Chr17:17q23.2-25.3		 pathogenic
NM_014906.4(PPM1E):c.1954T>C (p.Leu652=) single nucleotide variant Malignant melanoma [RCV000071586] Chr17:58980717 [GRCh38]
Chr17:57058078 [GRCh37]
Chr17:54412860 [NCBI36]
Chr17:17q22		 not provided
NM_015294.6(TRIM37):c.2049C>T (p.Ala683=) single nucleotide variant Mulibrey nanism syndrome [RCV000315972]|not provided [RCV000968292]|not specified [RCV000175464] Chr17:59028623 [GRCh38]
Chr17:57105984 [GRCh37]
Chr17:17q22		 benign|likely benign|uncertain significance
NM_015294.6(TRIM37):c.398C>T (p.Ala133Val) single nucleotide variant Mulibrey nanism syndrome [RCV001126866]|not provided [RCV000514105]|not specified [RCV000179488] Chr17:59081191 [GRCh38]
Chr17:59081191..59081192 [GRCh38]
Chr17:57158552 [GRCh37]
Chr17:57158552..57158553 [GRCh37]
Chr17:17q22		 benign|likely benign
GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3 copy number gain See cases [RCV000137437] Chr17:36449220..75053130 [GRCh38]
Chr17:57595736..73049225 [GRCh37]
Chr17:54950518..70560820 [NCBI36]
Chr17:17q23.1-25.1		 pathogenic
NM_015294.6(TRIM37):c.1691del (p.Tyr564fs) deletion Mulibrey nanism syndrome [RCV001294119] Chr17:59041875 [GRCh38]
Chr17:57119236 [GRCh37]
Chr17:17q22		 pathogenic
NM_015294.6(TRIM37):c.950A>G (p.Asn317Ser) single nucleotide variant not provided [RCV000174374] Chr17:59061101 [GRCh38]
Chr17:57138462 [GRCh37]
Chr17:17q22		 uncertain significance
NM_015294.6(TRIM37):c.1015T>A (p.Ser339Thr) single nucleotide variant not provided [RCV000174375] Chr17:59061036 [GRCh38]
Chr17:57138397 [GRCh37]
Chr17:17q22		 uncertain significance
GRCh38/hg38 17q22-23.1(chr17:57418806-59735464)x1 copy number loss See cases [RCV000140211] Chr17:57418806..59735464 [GRCh38]
Chr17:55496167..57812825 [GRCh37]
Chr17:52851166..55167607 [NCBI36]
Chr17:17q22-23.1		 pathogenic
GRCh38/hg38 17q22(chr17:58940516-59008749)x3 copy number gain See cases [RCV000141108] Chr17:58940516..59008749 [GRCh38]
Chr17:57017877..57086110 [GRCh37]
Chr17:54372659..54440892 [NCBI36]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.2696-2A>G single nucleotide variant not provided [RCV000254999] Chr17:59001716 [GRCh38]
Chr17:57079077 [GRCh37]
Chr17:17q22		 likely pathogenic
NM_015294.6(TRIM37):c.2577-7C>G single nucleotide variant Mulibrey nanism syndrome [RCV000314046]|TRIM37-related disorder [RCV003939940]|not provided [RCV000885019]|not specified [RCV000289344] Chr17:59012453 [GRCh38]
Chr17:57089814 [GRCh37]
Chr17:17q22		 benign|likely benign|uncertain significance
NM_015294.6(TRIM37):c.1919G>A (p.Arg640His) single nucleotide variant Mulibrey nanism syndrome [RCV000354466]|not provided [RCV000350888] Chr17:59031925 [GRCh38]
Chr17:57109286 [GRCh37]
Chr17:17q22		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 17q22-23.3(chr17:56321134-62080001)x3 copy number gain See cases [RCV000240364] Chr17:56321134..62080001 [GRCh37]
Chr17:17q22-23.3		 pathogenic
NM_015294.6(TRIM37):c.1264T>C (p.Leu422=) single nucleotide variant Mulibrey nanism syndrome [RCV000284395]|not provided [RCV001590961] Chr17:59051264 [GRCh38]
Chr17:57128625 [GRCh37]
Chr17:17q22		 benign|likely benign
NM_015294.6(TRIM37):c.*759T>C single nucleotide variant Mulibrey nanism syndrome [RCV000274465]|not provided [RCV004705356] Chr17:58998618 [GRCh38]
Chr17:57075979 [GRCh37]
Chr17:17q22		 likely benign|uncertain significance
NM_015294.6(TRIM37):c.2776G>T (p.Asp926Tyr) single nucleotide variant Inborn genetic diseases [RCV004686580]|Mulibrey nanism syndrome [RCV000291945] Chr17:59001634 [GRCh38]
Chr17:57078995 [GRCh37]
Chr17:17q22		 uncertain significance
NM_015294.6(TRIM37):c.-419G>T single nucleotide variant Mulibrey nanism syndrome [RCV000294344] Chr17:59106880 [GRCh38]
Chr17:57184241 [GRCh37]
Chr17:17q22		 uncertain significance
NM_015294.6(TRIM37):c.-340T>G single nucleotide variant Mulibrey nanism syndrome [RCV000276584]|not provided [RCV001534810] Chr17:59106801 [GRCh38]
Chr17:57184162 [GRCh37]
Chr17:17q22		 benign
NM_015294.6(TRIM37):c.810-13dup duplication Mulibrey nanism syndrome [RCV000296131]|not provided [RCV000676024] Chr17:59064407..59064408 [GRCh38]
Chr17:57141768..57141769 [GRCh37]
Chr17:17q22		 benign|likely benign|uncertain significance
NM_015294.6(TRIM37):c.*622T>C single nucleotide variant Mulibrey nanism syndrome [RCV000280324] Chr17:58998755 [GRCh38]
Chr17:57076116 [GRCh37]
Chr17:17q22		 uncertain significance
NM_015294.6(TRIM37):c.2430C>T (p.Pro810=) single nucleotide variant Mulibrey nanism syndrome [RCV000355946]|TRIM37-related disorder [RCV003969921]|not provided [RCV000880319] Chr17:59015756 [GRCh38]
Chr17:57093117 [GRCh37]
Chr17:17q22		 likely benign|uncertain significance
NM_015294.6(TRIM37):c.2754T>C (p.His918=) single nucleotide variant Mulibrey nanism syndrome [RCV000344361]|not provided [RCV003736718] Chr17:59001656 [GRCh38]
Chr17:57079017 [GRCh37]
Chr17:17q22		 likely benign|uncertain significance
NM_015294.6(TRIM37):c.2512G>A (p.Val838Ile) single nucleotide variant Mulibrey nanism syndrome [RCV000393513]|not provided [RCV000960573] Chr17:59015674 [GRCh38]
Chr17:57093035 [GRCh37]
Chr17:17q22		 benign|likely benign
NM_015294.6(TRIM37):c.861-6C>T single nucleotide variant Mulibrey nanism syndrome [RCV000345268]|not provided [RCV001539750]|not specified [RCV001795943] Chr17:59062654 [GRCh38]
Chr17:57140015 [GRCh37]
Chr17:17q22		 benign|likely benign
NM_015294.6(TRIM37):c.-224A>G single nucleotide variant Mulibrey nanism syndrome [RCV000361750]|not provided [RCV001537235] Chr17:59106685 [GRCh38]
Chr17:57184046 [GRCh37]
Chr17:17q22		 benign|likely benign
NM_015294.6(TRIM37):c.-236A>G single nucleotide variant Mulibrey nanism syndrome [RCV000365210] Chr17:59106697 [GRCh38]
Chr17:57184058 [GRCh37]
Chr17:17q22		 benign|likely benign
NM_015294.6(TRIM37):c.810-3del deletion Mulibrey nanism syndrome [RCV000348619]|not provided [RCV000676023]|not specified [RCV001579489] Chr17:59064408 [GRCh38]
Chr17:57141769 [GRCh37]
Chr17:17q22		 benign|likely benign|uncertain significance
NM_015294.6(TRIM37):c.*634A>T single nucleotide variant Mulibrey nanism syndrome [RCV000372594]|not provided [RCV004709711] Chr17:58998743 [GRCh38]
Chr17:57076104 [GRCh37]
Chr17:17q22		 benign
NM_015294.6(TRIM37):c.*977del deletion Mulibrey nanism syndrome [RCV000277835] Chr17:58998400 [GRCh38]
Chr17:57075761 [GRCh37]
Chr17:17q22		 uncertain significance
NM_015294.6(TRIM37):c.*836A>G single nucleotide variant Mulibrey nanism syndrome [RCV000368949] Chr17:58998541 [GRCh38]
Chr17:57075902 [GRCh37]
Chr17:17q22		 uncertain significance
NM_015294.6(TRIM37):c.2544G>A (p.Ala848=) single nucleotide variant Mulibrey nanism syndrome [RCV000371103]|not provided [RCV002524430] Chr17:59015642 [GRCh38]
Chr17:57093003 [GRCh37]
Chr17:17q22		 likely benign|uncertain significance
NM_015294.6(TRIM37):c.-296G>T single nucleotide variant Mulibrey nanism syndrome [RCV000272910] Chr17:59106757 [GRCh38]
Chr17:57184118 [GRCh37]
Chr17:17q22		 uncertain significance
NM_015294.6(TRIM37):c.1200-11A>G single nucleotide variant Mulibrey nanism syndrome [RCV000327793] Chr17:59051339 [GRCh38]
Chr17:57128700 [GRCh37]
Chr17:17q22		 uncertain significance
NM_015294.6(TRIM37):c.*658A>G single nucleotide variant Mulibrey nanism syndrome [RCV000320206] Chr17:58998719 [GRCh38]
Chr17:57076080 [GRCh37]
Chr17:17q22		 likely benign|uncertain significance
NM_015294.6(TRIM37):c.828C>T (p.Tyr276=) single nucleotide variant Mulibrey nanism syndrome [RCV000399584]|not provided [RCV003727679] Chr17:59064387 [GRCh38]
Chr17:57141748 [GRCh37]
Chr17:17q22		 likely benign|uncertain significance
NM_015294.6(TRIM37):c.1748C>A (p.Pro583His) single nucleotide variant Mulibrey nanism syndrome [RCV000324150]|not provided [RCV000961512] Chr17:59041818 [GRCh38]
Chr17:57119179 [GRCh37]
Chr17:17q22		 benign|likely benign|uncertain significance
NM_015294.6(TRIM37):c.*1084C>T single nucleotide variant Mulibrey nanism syndrome [RCV000308411] Chr17:58998293 [GRCh38]
Chr17:57075654 [GRCh37]
Chr17:17q22		 uncertain significance
NM_015294.6(TRIM37):c.1446C>T (p.Leu482=) single nucleotide variant Mulibrey nanism syndrome [RCV000376553]|not provided [RCV003727678] Chr17:59049262 [GRCh38]
Chr17:57126623 [GRCh37]
Chr17:17q22		 likely benign|uncertain significance
NM_015294.6(TRIM37):c.*369C>T single nucleotide variant Mulibrey nanism syndrome [RCV000380548] Chr17:58999008 [GRCh38]
Chr17:57076369 [GRCh37]
Chr17:17q22		 uncertain significance
NM_015294.6(TRIM37):c.-228C>G single nucleotide variant Mulibrey nanism syndrome [RCV000264535] Chr17:59106689 [GRCh38]
Chr17:57184050 [GRCh37]
Chr17:17q22		 uncertain significance
NM_015294.6(TRIM37):c.*961A>G single nucleotide variant Mulibrey nanism syndrome [RCV000332983] Chr17:58998416 [GRCh38]
Chr17:57075777 [GRCh37]
Chr17:17q22		 uncertain significance
NM_015294.6(TRIM37):c.-365G>A single nucleotide variant Mulibrey nanism syndrome [RCV000334112] Chr17:59106826 [GRCh38]
Chr17:57184187 [GRCh37]
Chr17:17q22		 uncertain significance
NM_015294.6(TRIM37):c.513A>T (p.Val171=) single nucleotide variant not provided [RCV000286964] Chr17:59079857 [GRCh38]
Chr17:57157218 [GRCh37]
Chr17:17q22		 uncertain significance
NM_015294.6(TRIM37):c.*235G>A single nucleotide variant Mulibrey nanism syndrome [RCV000341056] Chr17:58999142 [GRCh38]
Chr17:57076503 [GRCh37]
Chr17:17q22		 uncertain significance
NM_015294.6(TRIM37):c.2401T>C (p.Ser801Pro) single nucleotide variant not provided [RCV000399177] Chr17:59015785 [GRCh38]
Chr17:57093146 [GRCh37]
Chr17:17q22		 uncertain significance
NM_015294.6(TRIM37):c.1178A>G (p.Gln393Arg) single nucleotide variant Inborn genetic diseases [RCV003258764]|Mulibrey nanism syndrome [RCV000384706]|not provided [RCV001859917] Chr17:59056896 [GRCh38]
Chr17:57134257 [GRCh37]
Chr17:17q22		 uncertain significance
NM_015294.6(TRIM37):c.-18C>T single nucleotide variant Mulibrey nanism syndrome [RCV000338148] Chr17:59106479 [GRCh38]
Chr17:57183840 [GRCh37]
Chr17:17q22		 uncertain significance
NM_015294.6(TRIM37):c.2316A>G (p.Leu772=) single nucleotide variant Mulibrey nanism syndrome [RCV000263515]|not provided [RCV002524431] Chr17:59017366 [GRCh38]
Chr17:57094727 [GRCh37]
Chr17:17q22		 likely benign|uncertain significance
NM_015294.6(TRIM37):c.398C>G (p.Ala133Gly) single nucleotide variant Mulibrey nanism syndrome [RCV000299610] Chr17:59081191 [GRCh38]
Chr17:57158552 [GRCh37]
Chr17:17q22		 uncertain significance
NM_015294.6(TRIM37):c.*172C>T single nucleotide variant Mulibrey nanism syndrome [RCV000401444] Chr17:58999205 [GRCh38]
Chr17:57076566 [GRCh37]
Chr17:17q22		 uncertain significance
NM_015294.6(TRIM37):c.2240A>G (p.Asn747Ser) single nucleotide variant not provided [RCV000262301] Chr17:59028432 [GRCh38]
Chr17:57105793 [GRCh37]
Chr17:17q22		 uncertain significance
NM_015294.6(TRIM37):c.*1025A>G single nucleotide variant Mulibrey nanism syndrome [RCV000362979]|not provided [RCV004694341] Chr17:58998352 [GRCh38]
Chr17:57075713 [GRCh37]
Chr17:17q22		 uncertain significance
NM_015294.6(TRIM37):c.1815C>T (p.Ser605=) single nucleotide variant Mulibrey nanism syndrome [RCV000266716]|not provided [RCV000908861] Chr17:59032029 [GRCh38]
Chr17:57109390 [GRCh37]
Chr17:17q22		 likely benign|uncertain significance
NM_015294.6(TRIM37):c.-203C>A single nucleotide variant Mulibrey nanism syndrome [RCV000304681] Chr17:59106664 [GRCh38]
Chr17:57184025 [GRCh37]
Chr17:17q22		 uncertain significance
NM_015294.6(TRIM37):c.943-135A>G single nucleotide variant not provided [RCV002285682] Chr17:59061243 [GRCh38]
Chr17:57138604 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.-230C>T single nucleotide variant Mulibrey nanism syndrome [RCV000303561] Chr17:59106691 [GRCh38]
Chr17:57184052 [GRCh37]
Chr17:17q22		 uncertain significance
NM_015294.6(TRIM37):c.-335T>A single nucleotide variant Mulibrey nanism syndrome [RCV000382788] Chr17:59106796 [GRCh38]
Chr17:57184157 [GRCh37]
Chr17:17q22		 uncertain significance
NM_015294.6(TRIM37):c.2676T>G (p.Ala892=) single nucleotide variant Mulibrey nanism syndrome [RCV000400956] Chr17:59012347 [GRCh38]
Chr17:57089708 [GRCh37]
Chr17:17q22		 uncertain significance
NM_015294.6(TRIM37):c.*344G>A single nucleotide variant Mulibrey nanism syndrome [RCV000283701] Chr17:58999033 [GRCh38]
Chr17:57076394 [GRCh37]
Chr17:17q22		 uncertain significance
NM_015294.6(TRIM37):c.-389G>T single nucleotide variant Mulibrey nanism syndrome [RCV000386248] Chr17:59106850 [GRCh38]
Chr17:57184211 [GRCh37]
Chr17:17q22		 uncertain significance
NM_015294.6(TRIM37):c.-139G>A single nucleotide variant Mulibrey nanism syndrome [RCV000407394] Chr17:59106600 [GRCh38]
Chr17:57183961 [GRCh37]
Chr17:17q22		 uncertain significance
NM_015294.6(TRIM37):c.*381T>C single nucleotide variant Mulibrey nanism syndrome [RCV000323633] Chr17:58998996 [GRCh38]
Chr17:57076357 [GRCh37]
Chr17:17q22		 uncertain significance
NM_001005207.3(TRIM37):c.-449dupC duplication Mulibrey nanism syndrome [RCV000401476]|not provided [RCV001723968] Chr17:59106909..59106910 [GRCh38]
Chr17:57184270..57184271 [GRCh37]
Chr17:17q22		 benign
NM_015294.6(TRIM37):c.943-7_943-5del microsatellite Mulibrey nanism syndrome [RCV000288005]|not provided [RCV003574745] Chr17:59061113..59061115 [GRCh38]
Chr17:57138474..57138476 [GRCh37]
Chr17:17q22		 likely benign|uncertain significance
NM_015294.6(TRIM37):c.-334C>G single nucleotide variant Mulibrey nanism syndrome [RCV000325666] Chr17:59106795 [GRCh38]
Chr17:57184156 [GRCh37]
Chr17:17q22		 uncertain significance
NM_015294.6(TRIM37):c.2487G>T (p.Gln829His) single nucleotide variant Mulibrey nanism syndrome [RCV000312908] Chr17:59015699 [GRCh38]
Chr17:57093060 [GRCh37]
Chr17:17q22		 uncertain significance
NM_015294.6(TRIM37):c.698G>A (p.Ser233Asn) single nucleotide variant not provided [RCV000733052] Chr17:59070934 [GRCh38]
Chr17:57148295 [GRCh37]
Chr17:17q22		 uncertain significance
NM_015294.6(TRIM37):c.2280G>A (p.Ser760=) single nucleotide variant Mulibrey nanism syndrome [RCV001127155]|not provided [RCV000728739] Chr17:59017402 [GRCh38]
Chr17:57094763 [GRCh37]
Chr17:17q22		 conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 17q22(chr17:56998237-57064254)x3 copy number gain See cases [RCV000446477] Chr17:56998237..57064254 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.617-5A>G single nucleotide variant not provided [RCV002062606]|not specified [RCV000432962] Chr17:59075719 [GRCh38]
Chr17:57153080 [GRCh37]
Chr17:17q22		 likely benign
GRCh37/hg19 17q22(chr17:57061085-57134239)x3 copy number gain See cases [RCV000445903] Chr17:57061085..57134239 [GRCh37]
Chr17:17q22		 likely benign
GRCh37/hg19 17q22(chr17:52189051-57477162)x3 copy number gain See cases [RCV000448801] Chr17:52189051..57477162 [GRCh37]
Chr17:17q22		 pathogenic
GRCh37/hg19 17q21.33-23.2(chr17:49076980-58740945)x3 copy number gain See cases [RCV000448805] Chr17:49076980..58740945 [GRCh37]
Chr17:17q21.33-23.2		 pathogenic
GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3 copy number gain See cases [RCV000447823] Chr17:42580684..81085615 [GRCh37]
Chr17:17q21.31-25.3		 pathogenic
GRCh37/hg19 17q22-23.1(chr17:57159678-57665342)x3 copy number gain See cases [RCV000510643] Chr17:57159678..57665342 [GRCh37]
Chr17:17q22-23.1		 uncertain significance
GRCh37/hg19 17q22-23.1(chr17:57070141-57752711)x3 copy number gain See cases [RCV000510335] Chr17:57070141..57752711 [GRCh37]
Chr17:17q22-23.1		 uncertain significance
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938) copy number gain See cases [RCV000511439] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17q22-23.2(chr17:56623275-60285107)x1 copy number loss See cases [RCV000511292] Chr17:56623275..60285107 [GRCh37]
Chr17:17q22-23.2		 pathogenic
NM_015294.6(TRIM37):c.1684G>T (p.Val562Leu) single nucleotide variant Inborn genetic diseases [RCV003273160] Chr17:59041882 [GRCh38]
Chr17:57119243 [GRCh37]
Chr17:17q22		 uncertain significance
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3 copy number gain See cases [RCV000512441] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17q22(chr17:57045488-57404278)x3 copy number gain not provided [RCV000513051] Chr17:57045488..57404278 [GRCh37]
Chr17:17q22		 uncertain significance
NM_015294.6(TRIM37):c.771A>G (p.Ala257=) single nucleotide variant not provided [RCV003690691] Chr17:59070861 [GRCh38]
Chr17:57148222 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.1667+14T>A single nucleotide variant not provided [RCV003690868] Chr17:59047669 [GRCh38]
Chr17:57125030 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.2136C>T (p.Ser712=) single nucleotide variant not provided [RCV000676022] Chr17:59028536 [GRCh38]
Chr17:57105897 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.2229A>G (p.Ser743=) single nucleotide variant not provided [RCV000676020] Chr17:59028443 [GRCh38]
Chr17:57105804 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.2169A>G (p.Ala723=) single nucleotide variant not provided [RCV000676021] Chr17:59028503 [GRCh38]
Chr17:57105864 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.586C>T (p.Gln196Ter) single nucleotide variant Mulibrey nanism syndrome [RCV000680212] Chr17:59079784 [GRCh38]
Chr17:57157145 [GRCh37]
Chr17:17q22		 likely pathogenic|uncertain significance
NM_015294.6(TRIM37):c.1199+277G>A single nucleotide variant not provided [RCV001567787] Chr17:59056598 [GRCh38]
Chr17:57133959 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.2036A>C (p.Lys679Thr) single nucleotide variant Mulibrey nanism syndrome [RCV000714726] Chr17:59028636 [GRCh38]
Chr17:57105997 [GRCh37]
Chr17:17q22		 uncertain significance
NM_015294.6(TRIM37):c.2812+68T>G single nucleotide variant not provided [RCV001574086] Chr17:59001530 [GRCh38]
Chr17:57078891 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.2258-213dup duplication not provided [RCV001547325] Chr17:59017625..59017626 [GRCh38]
Chr17:57094986..57094987 [GRCh37]
Chr17:17q22		 likely benign
GRCh37/hg19 17p13.3-q25.3(chr17:7214-81058310)x3 copy number gain not provided [RCV000739320] Chr17:7214..81058310 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:12344-81057996)x3 copy number gain not provided [RCV000739325] Chr17:12344..81057996 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:8547-81060040)x3 copy number gain not provided [RCV000739324] Chr17:8547..81060040 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
NM_015294.6(TRIM37):c.2695+101CTG[9] microsatellite not provided [RCV001541842] Chr17:59012215..59012216 [GRCh38]
Chr17:57089576..57089577 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.123+130G>A single nucleotide variant not provided [RCV001535143] Chr17:59104163 [GRCh38]
Chr17:57181524 [GRCh37]
Chr17:17q22		 benign
NM_015294.6(TRIM37):c.1667+21C>T single nucleotide variant not provided [RCV001547280] Chr17:59047662 [GRCh38]
Chr17:57125023 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.2000G>A (p.Arg667Gln) single nucleotide variant not provided [RCV001566872] Chr17:59028672 [GRCh38]
Chr17:57106033 [GRCh37]
Chr17:17q22		 uncertain significance
NM_015294.6(TRIM37):c.181C>T (p.Arg61Ter) single nucleotide variant Mulibrey nanism syndrome [RCV000761536]|not provided [RCV003558564] Chr17:59088391 [GRCh38]
Chr17:57165752 [GRCh37]
Chr17:17q22		 pathogenic
GRCh37/hg19 17q22(chr17:56854249-57177549)x3 copy number gain not provided [RCV000752154] Chr17:56854249..57177549 [GRCh37]
Chr17:17q22		 benign
NM_015294.6(TRIM37):c.124-171_124-170del deletion not provided [RCV001707958] Chr17:59091510..59091511 [GRCh38]
Chr17:57168871..57168872 [GRCh37]
Chr17:17q22		 benign
NM_015294.6(TRIM37):c.942+106G>A single nucleotide variant not provided [RCV001708389] Chr17:59062461 [GRCh38]
Chr17:57139822 [GRCh37]
Chr17:17q22		 benign
NM_015294.6(TRIM37):c.2190C>A (p.Gly730=) single nucleotide variant not provided [RCV000902617] Chr17:59028482 [GRCh38]
Chr17:57105843 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.1386C>T (p.Pro462=) single nucleotide variant not provided [RCV000928148] Chr17:59049322 [GRCh38]
Chr17:57126683 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.996A>G (p.Ser332=) single nucleotide variant not provided [RCV000904682] Chr17:59061055 [GRCh38]
Chr17:57138416 [GRCh37]
Chr17:17q22		 benign
NM_015294.6(TRIM37):c.1870del (p.Asp624fs) deletion Mulibrey nanism syndrome [RCV000778507] Chr17:59031974 [GRCh38]
Chr17:57109335 [GRCh37]
Chr17:17q22		 uncertain significance
NM_015294.6(TRIM37):c.1754-3C>T single nucleotide variant Mulibrey nanism syndrome [RCV001123098]|not provided [RCV000959951] Chr17:59032093 [GRCh38]
Chr17:57109454 [GRCh37]
Chr17:17q22		 benign|likely benign
NM_015294.6(TRIM37):c.1347G>A (p.Lys449=) single nucleotide variant not provided [RCV000900070] Chr17:59049361 [GRCh38]
Chr17:57126722 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.164+7G>A single nucleotide variant not provided [RCV000954310] Chr17:59091293 [GRCh38]
Chr17:57168654 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.1153_1154insGACTTACTCGC (p.Ala385fs) insertion Mulibrey nanism syndrome [RCV000824872] Chr17:59056920..59056921 [GRCh38]
Chr17:57134281..57134282 [GRCh37]
Chr17:17q22		 likely pathogenic
GRCh37/hg19 17q22(chr17:57177648-57576615)x3 copy number gain not provided [RCV000847865] Chr17:57177648..57576615 [GRCh37]
Chr17:17q22		 uncertain significance
NC_000017.10:g.57075470_57235248del159779 deletion Mulibrey nanism syndrome [RCV000785665] Chr17:58998109..59157887 [GRCh38]
Chr17:57075470..57235248 [GRCh37]
Chr17:17q22		 likely pathogenic
GRCh37/hg19 17q22(chr17:57059828-57375023)x3 copy number gain not provided [RCV000846313] Chr17:57059828..57375023 [GRCh37]
Chr17:17q22		 uncertain significance
NM_015294.6(TRIM37):c.1394del (p.Asp465fs) deletion not provided [RCV001008397] Chr17:59049314 [GRCh38]
Chr17:57126675 [GRCh37]
Chr17:17q22		 likely pathogenic
GRCh37/hg19 17q22(chr17:56780562-57251609)x1 copy number loss See cases [RCV001194580] Chr17:56780562..57251609 [GRCh37]
Chr17:17q22		 pathogenic
NM_015294.6(TRIM37):c.369+8G>C single nucleotide variant Mulibrey nanism syndrome [RCV001126867] Chr17:59083994 [GRCh38]
Chr17:57161355 [GRCh37]
Chr17:17q22		 uncertain significance
NM_015294.6(TRIM37):c.2367C>G (p.Asp789Glu) single nucleotide variant Mulibrey nanism syndrome [RCV001127153]|not provided [RCV001856659] Chr17:59017315 [GRCh38]
Chr17:57094676 [GRCh37]
Chr17:17q22		 uncertain significance
NM_015294.6(TRIM37):c.1700T>A (p.Met567Lys) single nucleotide variant Mulibrey nanism syndrome [RCV001123100] Chr17:59041866 [GRCh38]
Chr17:57119227 [GRCh37]
Chr17:17q22		 uncertain significance
NM_015294.6(TRIM37):c.*1030T>C single nucleotide variant Mulibrey nanism syndrome [RCV001126652] Chr17:58998347 [GRCh38]
Chr17:57075708 [GRCh37]
Chr17:17q22		 uncertain significance
NM_015294.6(TRIM37):c.370-184G>A single nucleotide variant not provided [RCV001643717] Chr17:59081403 [GRCh38]
Chr17:57158764 [GRCh37]
Chr17:17q22		 benign
NM_015294.6(TRIM37):c.277G>A (p.Asp93Asn) single nucleotide variant Inborn genetic diseases [RCV003250896] Chr17:59088295 [GRCh38]
Chr17:57165656 [GRCh37]
Chr17:17q22		 uncertain significance
NM_015294.6(TRIM37):c.124-236AT[5] microsatellite not provided [RCV001658638] Chr17:59091568..59091569 [GRCh38]
Chr17:57168929..57168930 [GRCh37]
Chr17:17q22		 benign
NM_015294.6(TRIM37):c.1199+112C>A single nucleotide variant not provided [RCV001666276] Chr17:59056763 [GRCh38]
Chr17:57134124 [GRCh37]
Chr17:17q22		 benign
NM_001005207.5(TRIM37):c.2892-24G>A single nucleotide variant not provided [RCV001560762] Chr17:58982945 [GRCh38]
Chr17:57060306 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.2576+246C>G single nucleotide variant not provided [RCV001636008] Chr17:59015364 [GRCh38]
Chr17:57092725 [GRCh37]
Chr17:17q22		 benign
NM_015294.6(TRIM37):c.1754-161G>A single nucleotide variant not provided [RCV001560986] Chr17:59032251 [GRCh38]
Chr17:57109612 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.492+70A>G single nucleotide variant not provided [RCV001562182] Chr17:59081027 [GRCh38]
Chr17:57158388 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.684+88T>C single nucleotide variant not provided [RCV001680184] Chr17:59075559 [GRCh38]
Chr17:57152920 [GRCh37]
Chr17:17q22		 benign
NM_015294.6(TRIM37):c.124-148_124-144del microsatellite not provided [RCV001558334] Chr17:59091484..59091488 [GRCh38]
Chr17:57168845..57168849 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.684+63dup duplication not provided [RCV001599048] Chr17:59075563..59075564 [GRCh38]
Chr17:57152924..57152925 [GRCh37]
Chr17:17q22		 benign
NM_015294.6(TRIM37):c.124-170G>A single nucleotide variant not provided [RCV001599056] Chr17:59091510 [GRCh38]
Chr17:57168871 [GRCh37]
Chr17:17q22		 benign
NM_015294.6(TRIM37):c.375C>A (p.Gly125=) single nucleotide variant not provided [RCV000887165] Chr17:59081214 [GRCh38]
Chr17:57158575 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.1739C>T (p.Ala580Val) single nucleotide variant not provided [RCV000924324] Chr17:59041827 [GRCh38]
Chr17:57119188 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.*925G>T single nucleotide variant Mulibrey nanism syndrome [RCV001127049] Chr17:58998452 [GRCh38]
Chr17:57075813 [GRCh37]
Chr17:17q22		 uncertain significance
NM_015294.6(TRIM37):c.2262A>G (p.Thr754=) single nucleotide variant Mulibrey nanism syndrome [RCV001127156]|not provided [RCV002070079] Chr17:59017420 [GRCh38]
Chr17:57094781 [GRCh37]
Chr17:17q22		 likely benign|uncertain significance
NM_015294.6(TRIM37):c.1750G>A (p.Ala584Thr) single nucleotide variant Mulibrey nanism syndrome [RCV001123099] Chr17:59041816 [GRCh38]
Chr17:57119177 [GRCh37]
Chr17:17q22		 uncertain significance
NM_015294.6(TRIM37):c.375C>T (p.Gly125=) single nucleotide variant not provided [RCV000911132] Chr17:59081214 [GRCh38]
Chr17:57158575 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.2386+297A>G single nucleotide variant not provided [RCV001557144] Chr17:59016999 [GRCh38]
Chr17:57094360 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.123+213G>C single nucleotide variant not provided [RCV001557220] Chr17:59104080 [GRCh38]
Chr17:57181441 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.165-164C>T single nucleotide variant not provided [RCV001567433] Chr17:59088571 [GRCh38]
Chr17:57165932 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.2812+129dup duplication not provided [RCV001548256] Chr17:59001454..59001455 [GRCh38]
Chr17:57078815..57078816 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.2812+143del deletion not provided [RCV001558606] Chr17:59001455 [GRCh38]
Chr17:57078816 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.2258-62A>G single nucleotide variant not provided [RCV001555476] Chr17:59017486 [GRCh38]
Chr17:57094847 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.124-184_124-182del deletion not provided [RCV001555704] Chr17:59091522..59091524 [GRCh38]
Chr17:57168883..57168885 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.861-292T>C single nucleotide variant not provided [RCV001659429] Chr17:59062940 [GRCh38]
Chr17:57140301 [GRCh37]
Chr17:17q22		 benign
NM_015294.6(TRIM37):c.1315-88C>T single nucleotide variant not provided [RCV001639221] Chr17:59049481 [GRCh38]
Chr17:57126842 [GRCh37]
Chr17:17q22		 benign
NM_015294.6(TRIM37):c.861-295T>A single nucleotide variant not provided [RCV001686085] Chr17:59062943 [GRCh38]
Chr17:57140304 [GRCh37]
Chr17:17q22		 benign
NM_015294.6(TRIM37):c.684+83del deletion not provided [RCV001689324] Chr17:59075564 [GRCh38]
Chr17:57152925 [GRCh37]
Chr17:17q22		 benign
NM_015294.6(TRIM37):c.2257+70A>G single nucleotide variant not provided [RCV001594271] Chr17:59028345 [GRCh38]
Chr17:57105706 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.684+84G>T single nucleotide variant not provided [RCV001652993] Chr17:59075563 [GRCh38]
Chr17:57152924 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.2813-73A>T single nucleotide variant not provided [RCV001620626] Chr17:58999532 [GRCh38]
Chr17:57076893 [GRCh37]
Chr17:17q22		 benign
NM_015294.6(TRIM37):c.370-260C>T single nucleotide variant not provided [RCV001595221] Chr17:59081479 [GRCh38]
Chr17:57158840 [GRCh37]
Chr17:17q22		 benign
NM_015294.6(TRIM37):c.1152C>T (p.Leu384=) single nucleotide variant Mulibrey nanism syndrome [RCV001124187]|not provided [RCV003769200] Chr17:59056922 [GRCh38]
Chr17:57134283 [GRCh37]
Chr17:17q22		 likely benign|uncertain significance
NM_015294.6(TRIM37):c.2746G>A (p.Glu916Lys) single nucleotide variant Inborn genetic diseases [RCV002558247]|Mulibrey nanism syndrome [RCV001126752] Chr17:59001664 [GRCh38]
Chr17:57079025 [GRCh37]
Chr17:17q22		 uncertain significance
NM_015294.6(TRIM37):c.2695+11A>G single nucleotide variant Mulibrey nanism syndrome [RCV001126753] Chr17:59012317 [GRCh38]
Chr17:57089678 [GRCh37]
Chr17:17q22		 uncertain significance
NM_015294.6(TRIM37):c.2556G>A (p.Arg852=) single nucleotide variant Mulibrey nanism syndrome [RCV001126754] Chr17:59015630 [GRCh38]
Chr17:57092991 [GRCh37]
Chr17:17q22		 uncertain significance
NM_015294.6(TRIM37):c.2543C>T (p.Ala848Val) single nucleotide variant Inborn genetic diseases [RCV004032270]|Mulibrey nanism syndrome [RCV001126755] Chr17:59015643 [GRCh38]
Chr17:57093004 [GRCh37]
Chr17:17q22		 uncertain significance
NM_015294.6(TRIM37):c.689G>A (p.Arg230Gln) single nucleotide variant Inborn genetic diseases [RCV002558251]|Mulibrey nanism syndrome [RCV001126864] Chr17:59070943 [GRCh38]
Chr17:57148304 [GRCh37]
Chr17:17q22		 uncertain significance
NM_015294.6(TRIM37):c.*1029A>G single nucleotide variant Mulibrey nanism syndrome [RCV001127047] Chr17:58998348 [GRCh38]
Chr17:57075709 [GRCh37]
Chr17:17q22		 uncertain significance
NM_015294.6(TRIM37):c.*963A>G single nucleotide variant Mulibrey nanism syndrome [RCV001127048] Chr17:58998414 [GRCh38]
Chr17:57075775 [GRCh37]
Chr17:17q22		 uncertain significance
NM_015294.6(TRIM37):c.-244C>T single nucleotide variant Mulibrey nanism syndrome [RCV001127267] Chr17:59106705 [GRCh38]
Chr17:57184066 [GRCh37]
Chr17:17q22		 uncertain significance
NM_015294.6(TRIM37):c.1667+9C>T single nucleotide variant Mulibrey nanism syndrome [RCV001123101] Chr17:59047674 [GRCh38]
Chr17:57125035 [GRCh37]
Chr17:17q22		 uncertain significance
NM_015294.6(TRIM37):c.*118G>T single nucleotide variant Mulibrey nanism syndrome [RCV001124086] Chr17:58999259 [GRCh38]
Chr17:57076620 [GRCh37]
Chr17:17q22		 uncertain significance
NM_015294.6(TRIM37):c.2576+77T>C single nucleotide variant not provided [RCV001589611] Chr17:59015533 [GRCh38]
Chr17:57092894 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.2695+118A>G single nucleotide variant not provided [RCV001533846] Chr17:59012210 [GRCh38]
Chr17:57089571 [GRCh37]
Chr17:17q22		 benign
NM_015294.6(TRIM37):c.123+149C>T single nucleotide variant not provided [RCV001609942] Chr17:59104144 [GRCh38]
Chr17:57181505 [GRCh37]
Chr17:17q22		 benign
NM_015294.6(TRIM37):c.809+157G>A single nucleotide variant not provided [RCV001707214] Chr17:59070666 [GRCh38]
Chr17:57148027 [GRCh37]
Chr17:17q22		 benign
NM_015294.6(TRIM37):c.2386+40A>G single nucleotide variant Mulibrey nanism syndrome [RCV001838801]|not provided [RCV001696383] Chr17:59017256 [GRCh38]
Chr17:57094617 [GRCh37]
Chr17:17q22		 benign
NM_015294.6(TRIM37):c.684+141C>A single nucleotide variant not provided [RCV001580843] Chr17:59075506 [GRCh38]
Chr17:57152867 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.*594A>G single nucleotide variant Mulibrey nanism syndrome [RCV001123021] Chr17:58998783 [GRCh38]
Chr17:57076144 [GRCh37]
Chr17:17q22		 uncertain significance
NM_015294.6(TRIM37):c.*484G>A single nucleotide variant Mulibrey nanism syndrome [RCV001123022] Chr17:58998893 [GRCh38]
Chr17:57076254 [GRCh37]
Chr17:17q22		 uncertain significance
NM_015294.6(TRIM37):c.*373A>G single nucleotide variant Mulibrey nanism syndrome [RCV001123023] Chr17:58999004 [GRCh38]
Chr17:57076365 [GRCh37]
Chr17:17q22		 benign
NM_015294.6(TRIM37):c.2816C>T (p.Thr939Ile) single nucleotide variant Mulibrey nanism syndrome [RCV001124087] Chr17:58999456 [GRCh38]
Chr17:57076817 [GRCh37]
Chr17:17q22		 uncertain significance
NM_015294.6(TRIM37):c.*1060C>G single nucleotide variant Mulibrey nanism syndrome [RCV001126651] Chr17:58998317 [GRCh38]
Chr17:57075678 [GRCh37]
Chr17:17q22		 uncertain significance
NM_015294.6(TRIM37):c.796C>T (p.Pro266Ser) single nucleotide variant Mulibrey nanism syndrome [RCV001126863] Chr17:59070836 [GRCh38]
Chr17:57148197 [GRCh37]
Chr17:17q22		 uncertain significance
NM_015294.6(TRIM37):c.685T>A (p.Leu229Met) single nucleotide variant Mulibrey nanism syndrome [RCV001126865] Chr17:59070947 [GRCh38]
Chr17:57148308 [GRCh37]
Chr17:17q22		 uncertain significance
NM_015294.6(TRIM37):c.-100C>T single nucleotide variant Mulibrey nanism syndrome [RCV001126868] Chr17:59106561 [GRCh38]
Chr17:57183922 [GRCh37]
Chr17:17q22		 uncertain significance
NM_015294.6(TRIM37):c.*663T>C single nucleotide variant Mulibrey nanism syndrome [RCV001127050] Chr17:58998714 [GRCh38]
Chr17:57076075 [GRCh37]
Chr17:17q22		 uncertain significance
NM_015294.6(TRIM37):c.2282C>T (p.Pro761Leu) single nucleotide variant Mulibrey nanism syndrome [RCV001127154] Chr17:59017400 [GRCh38]
Chr17:57094761 [GRCh37]
Chr17:17q22		 uncertain significance
NM_015294.6(TRIM37):c.1330C>T (p.Leu444=) single nucleotide variant Mulibrey nanism syndrome [RCV001124185]|not provided [RCV002070025] Chr17:59049378 [GRCh38]
Chr17:57126739 [GRCh37]
Chr17:17q22		 likely benign|uncertain significance
GRCh37/hg19 17q22(chr17:57119174-57128690) copy number loss Mulibrey nanism syndrome [RCV001195118] Chr17:57119174..57128690 [GRCh37]
Chr17:17q22		 pathogenic
NM_015294.6(TRIM37):c.*598C>T single nucleotide variant Mulibrey nanism syndrome [RCV001123020] Chr17:58998779 [GRCh38]
Chr17:57076140 [GRCh37]
Chr17:17q22		 uncertain significance
NM_015294.6(TRIM37):c.1200-5T>C single nucleotide variant Mulibrey nanism syndrome [RCV001124186]|not provided [RCV003769199] Chr17:59051333 [GRCh38]
Chr17:57128694 [GRCh37]
Chr17:17q22		 likely benign|uncertain significance
NM_001005207.5(TRIM37):c.2892-2A>T single nucleotide variant Mulibrey nanism syndrome [RCV001197354] Chr17:58982923 [GRCh38]
Chr17:57060284 [GRCh37]
Chr17:17q22		 likely pathogenic
NM_015294.6(TRIM37):c.1167C>G (p.Tyr389Ter) single nucleotide variant Inborn genetic diseases [RCV001266998] Chr17:59056907 [GRCh38]
Chr17:57134268 [GRCh37]
Chr17:17q22		 pathogenic
NM_015294.6(TRIM37):c.2243G>A (p.Cys748Tyr) single nucleotide variant Mulibrey nanism syndrome [RCV001267687] Chr17:59028429 [GRCh38]
Chr17:57105790 [GRCh37]
Chr17:17q22		 uncertain significance
NM_015294.6(TRIM37):c.1225_1228del (p.Phe409fs) microsatellite Inborn genetic diseases [RCV001266999]|Mulibrey nanism syndrome [RCV004570659] Chr17:59051300..59051303 [GRCh38]
Chr17:57128661..57128664 [GRCh37]
Chr17:17q22		 pathogenic
NM_015294.6(TRIM37):c.934G>A (p.Val312Ile) single nucleotide variant Mulibrey nanism syndrome [RCV001267688] Chr17:59062575 [GRCh38]
Chr17:57139936 [GRCh37]
Chr17:17q22		 uncertain significance
NM_015294.6(TRIM37):c.1357T>A (p.Leu453Met) single nucleotide variant not provided [RCV001357652] Chr17:59049351 [GRCh38]
Chr17:57126712 [GRCh37]
Chr17:17q22		 uncertain significance
NM_015294.6(TRIM37):c.1199+288T>C single nucleotide variant not provided [RCV001684456] Chr17:59056587 [GRCh38]
Chr17:57133948 [GRCh37]
Chr17:17q22		 benign
NM_015294.6(TRIM37):c.1531-249G>C single nucleotide variant not provided [RCV001590849] Chr17:59048068 [GRCh38]
Chr17:57125429 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.124-234_124-196del microsatellite not provided [RCV001654669] Chr17:59091536..59091574 [GRCh38]
Chr17:57168897..57168935 [GRCh37]
Chr17:17q22		 benign
NM_015294.6(TRIM37):c.1199+177T>C single nucleotide variant not provided [RCV001616399] Chr17:59056698 [GRCh38]
Chr17:57134059 [GRCh37]
Chr17:17q22		 benign
NM_015294.6(TRIM37):c.1668-207C>T single nucleotide variant not provided [RCV001591480] Chr17:59042105 [GRCh38]
Chr17:57119466 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.1753+61G>A single nucleotide variant not provided [RCV001589996] Chr17:59041752 [GRCh38]
Chr17:57119113 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.2576+183C>T single nucleotide variant not provided [RCV001696621] Chr17:59015427 [GRCh38]
Chr17:57092788 [GRCh37]
Chr17:17q22		 benign
NM_015294.6(TRIM37):c.492+113A>G single nucleotide variant not provided [RCV001696739] Chr17:59080984 [GRCh38]
Chr17:57158345 [GRCh37]
Chr17:17q22		 benign
NM_015294.6(TRIM37):c.1949-12A>G single nucleotide variant Mulibrey nanism syndrome [RCV001418333] Chr17:59028735 [GRCh38]
Chr17:57106096 [GRCh37]
Chr17:17q22		 pathogenic
NM_015294.6(TRIM37):c.1948+2T>C single nucleotide variant Mulibrey nanism syndrome [RCV003475313]|See cases [RCV002252376] Chr17:59031894 [GRCh38]
Chr17:57109255 [GRCh37]
Chr17:17q22		 likely pathogenic
NM_015294.6(TRIM37):c.370-1G>A single nucleotide variant Mulibrey nanism syndrome [RCV003317986]|not provided [RCV003699066] Chr17:59081220 [GRCh38]
Chr17:57158581 [GRCh37]
Chr17:17q22		 pathogenic|likely pathogenic
NM_015294.6(TRIM37):c.447del (p.Lys149fs) deletion Mulibrey nanism syndrome [RCV001785085]|not provided [RCV003574885] Chr17:59081142 [GRCh38]
Chr17:57158503 [GRCh37]
Chr17:17q22		 pathogenic
NM_015294.6(TRIM37):c.2600T>C (p.Leu867Pro) single nucleotide variant not provided [RCV002261387]|not specified [RCV001817404] Chr17:59012423 [GRCh38]
Chr17:57089784 [GRCh37]
Chr17:17q22		 uncertain significance
NM_015294.6(TRIM37):c.847T>C (p.Leu283=) single nucleotide variant not provided [RCV002541994]|not specified [RCV001817405] Chr17:59064368 [GRCh38]
Chr17:57141729 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.861C>G (p.Ser287Arg) single nucleotide variant not specified [RCV001817697] Chr17:59062648 [GRCh38]
Chr17:57140009 [GRCh37]
Chr17:17q22		 uncertain significance
NM_015294.6(TRIM37):c.1243C>T (p.Gln415Ter) single nucleotide variant Mulibrey nanism syndrome [RCV003475208]|not provided [RCV002007468] Chr17:59051285 [GRCh38]
Chr17:57128646 [GRCh37]
Chr17:17q22		 pathogenic|likely pathogenic
NM_015294.6(TRIM37):c.1883G>A (p.Arg628Gln) single nucleotide variant Inborn genetic diseases [RCV002548722]|not provided [RCV001874210] Chr17:59031961 [GRCh38]
Chr17:57109322 [GRCh37]
Chr17:17q22		 uncertain significance
NM_015294.6(TRIM37):c.737T>C (p.Met246Thr) single nucleotide variant not provided [RCV001929824] Chr17:59070895 [GRCh38]
Chr17:57148256 [GRCh37]
Chr17:17q22		 uncertain significance
NM_015294.6(TRIM37):c.2576+5A>C single nucleotide variant not provided [RCV001950698] Chr17:59015605 [GRCh38]
Chr17:57092966 [GRCh37]
Chr17:17q22		 uncertain significance
NM_015294.6(TRIM37):c.229G>T (p.Asp77Tyr) single nucleotide variant not provided [RCV001912511] Chr17:59088343 [GRCh38]
Chr17:57165704 [GRCh37]
Chr17:17q22		 uncertain significance
NM_015294.6(TRIM37):c.2131A>G (p.Thr711Ala) single nucleotide variant not provided [RCV001945963] Chr17:59028541 [GRCh38]
Chr17:57105902 [GRCh37]
Chr17:17q22		 uncertain significance
NM_015294.6(TRIM37):c.1995G>A (p.Met665Ile) single nucleotide variant not provided [RCV001909831] Chr17:59028677 [GRCh38]
Chr17:57106038 [GRCh37]
Chr17:17q22		 uncertain significance
NM_015294.6(TRIM37):c.2022G>A (p.Met674Ile) single nucleotide variant not provided [RCV001948495] Chr17:59028650 [GRCh38]
Chr17:57106011 [GRCh37]
Chr17:17q22		 uncertain significance
NM_015294.6(TRIM37):c.575G>T (p.Arg192Leu) single nucleotide variant not provided [RCV001871110] Chr17:59079795 [GRCh38]
Chr17:57157156 [GRCh37]
Chr17:17q22		 uncertain significance
GRCh37/hg19 17q22-23.1(chr17:57177520-57616383)x3 copy number gain not provided [RCV001834301] Chr17:57177520..57616383 [GRCh37]
Chr17:17q22-23.1		 uncertain significance
NM_015294.6(TRIM37):c.1290C>G (p.Ile430Met) single nucleotide variant not provided [RCV001912147] Chr17:59051238 [GRCh38]
Chr17:57128599 [GRCh37]
Chr17:17q22		 uncertain significance
NM_015294.6(TRIM37):c.1828A>G (p.Ser610Gly) single nucleotide variant not provided [RCV001966914] Chr17:59032016 [GRCh38]
Chr17:57109377 [GRCh37]
Chr17:17q22		 uncertain significance
NM_015294.6(TRIM37):c.1189G>T (p.Val397Leu) single nucleotide variant not provided [RCV002039634] Chr17:59056885 [GRCh38]
Chr17:57134246 [GRCh37]
Chr17:17q22		 uncertain significance
NM_015294.6(TRIM37):c.2707G>A (p.Asp903Asn) single nucleotide variant not provided [RCV001972075] Chr17:59001703 [GRCh38]
Chr17:57079064 [GRCh37]
Chr17:17q22		 uncertain significance
NC_000017.10:g.(?_54671585)_(59938900_?)dup duplication Familial aplasia of the vermis [RCV001923071] Chr17:54671585..59938900 [GRCh37]
Chr17:17q22-23.2		 uncertain significance
NM_015294.6(TRIM37):c.21+6G>A single nucleotide variant not provided [RCV001956991] Chr17:59106435 [GRCh38]
Chr17:57183796 [GRCh37]
Chr17:17q22		 uncertain significance
NM_015294.6(TRIM37):c.124C>T (p.Arg42Cys) single nucleotide variant not provided [RCV001902053] Chr17:59091340 [GRCh38]
Chr17:57168701 [GRCh37]
Chr17:17q22		 uncertain significance
NM_015294.6(TRIM37):c.49A>G (p.Ile17Val) single nucleotide variant Inborn genetic diseases [RCV002551022]|not provided [RCV001867382] Chr17:59104367 [GRCh38]
Chr17:57181728 [GRCh37]
Chr17:17q22		 uncertain significance
NM_015294.6(TRIM37):c.375_377dup (p.Gly126dup) duplication not provided [RCV001902184] Chr17:59081211..59081212 [GRCh38]
Chr17:57158572..57158573 [GRCh37]
Chr17:17q22		 uncertain significance
NM_015294.6(TRIM37):c.369+7del deletion not provided [RCV001936738] Chr17:59083995 [GRCh38]
Chr17:57161356 [GRCh37]
Chr17:17q22		 uncertain significance
NC_000017.10:g.(?_57119154)_(57119279_?)del deletion not provided [RCV001958757] Chr17:57119154..57119279 [GRCh37]
Chr17:17q22		 pathogenic
NM_015294.6(TRIM37):c.1948+5A>G single nucleotide variant not provided [RCV001993512] Chr17:59031891 [GRCh38]
Chr17:57109252 [GRCh37]
Chr17:17q22		 uncertain significance
NM_015294.6(TRIM37):c.2700G>A (p.Met900Ile) single nucleotide variant not provided [RCV001932943] Chr17:59001710 [GRCh38]
Chr17:57079071 [GRCh37]
Chr17:17q22		 uncertain significance
NM_015294.6(TRIM37):c.1570T>G (p.Tyr524Asp) single nucleotide variant Inborn genetic diseases [RCV002563370]|not provided [RCV001958059] Chr17:59047780 [GRCh38]
Chr17:57125141 [GRCh37]
Chr17:17q22		 uncertain significance
NM_015294.6(TRIM37):c.77G>A (p.Arg26His) single nucleotide variant not provided [RCV001991806] Chr17:59104339 [GRCh38]
Chr17:57181700 [GRCh37]
Chr17:17q22		 uncertain significance
NM_015294.6(TRIM37):c.1501GAG[1] (p.Glu502del) microsatellite not provided [RCV002028330] Chr17:59049202..59049204 [GRCh38]
Chr17:57126563..57126565 [GRCh37]
Chr17:17q22		 uncertain significance
NM_015294.6(TRIM37):c.2387-20C>T single nucleotide variant not provided [RCV002087762] Chr17:59015819 [GRCh38]
Chr17:57093180 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.1949-14C>A single nucleotide variant not provided [RCV002107916] Chr17:59028737 [GRCh38]
Chr17:57106098 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.1949-16G>T single nucleotide variant not provided [RCV002208664] Chr17:59028739 [GRCh38]
Chr17:57106100 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.1821T>C (p.Ala607=) single nucleotide variant not provided [RCV002110443] Chr17:59032023 [GRCh38]
Chr17:57109384 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.1668-17A>G single nucleotide variant not provided [RCV002150274] Chr17:59041915 [GRCh38]
Chr17:57119276 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.609A>G (p.Thr203=) single nucleotide variant not provided [RCV002216233] Chr17:59079761 [GRCh38]
Chr17:57157122 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.942+12A>G single nucleotide variant not provided [RCV002095345] Chr17:59062555 [GRCh38]
Chr17:57139916 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.1531-12G>T single nucleotide variant not provided [RCV002207419] Chr17:59047831 [GRCh38]
Chr17:57125192 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.2766C>T (p.Gly922=) single nucleotide variant not provided [RCV002195993] Chr17:59001644 [GRCh38]
Chr17:57079005 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.1314+14T>A single nucleotide variant not provided [RCV002088020] Chr17:59051200 [GRCh38]
Chr17:57128561 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.234T>C (p.Thr78=) single nucleotide variant not provided [RCV002201400] Chr17:59088338 [GRCh38]
Chr17:57165699 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.1530+15A>G single nucleotide variant not provided [RCV002098732] Chr17:59049163 [GRCh38]
Chr17:57126524 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.2387-13C>T single nucleotide variant not provided [RCV002120519] Chr17:59015812 [GRCh38]
Chr17:57093173 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.1754-14C>T single nucleotide variant not provided [RCV002160605] Chr17:59032104 [GRCh38]
Chr17:57109465 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.1389A>G (p.Gln463=) single nucleotide variant not provided [RCV002101591] Chr17:59049319 [GRCh38]
Chr17:57126680 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.492+19T>A single nucleotide variant not provided [RCV002161223] Chr17:59081078 [GRCh38]
Chr17:57158439 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.1754-13G>A single nucleotide variant not provided [RCV002221019] Chr17:59032103 [GRCh38]
Chr17:57109464 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.2387-16C>A single nucleotide variant not provided [RCV002175266] Chr17:59015815 [GRCh38]
Chr17:57093176 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.2733G>A (p.Glu911=) single nucleotide variant not provided [RCV002119466] Chr17:59001677 [GRCh38]
Chr17:57079038 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.1314+15A>G single nucleotide variant not provided [RCV002218703] Chr17:59051199 [GRCh38]
Chr17:57128560 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.478T>C (p.Leu160=) single nucleotide variant not provided [RCV002122021] Chr17:59081111 [GRCh38]
Chr17:57158472 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.15C>T (p.Ser5=) single nucleotide variant not provided [RCV002142059] Chr17:59106447 [GRCh38]
Chr17:57183808 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.1770T>C (p.Tyr590=) single nucleotide variant not provided [RCV003115685] Chr17:59032074 [GRCh38]
Chr17:57109435 [GRCh37]
Chr17:17q22		 likely benign
NC_000017.10:g.(?_57076738)_(57094805_?)dup duplication not provided [RCV003119568] Chr17:57076738..57094805 [GRCh37]
Chr17:17q22		 uncertain significance
NC_000017.10:g.(?_57119154)_(57148328_?)del deletion not provided [RCV003119566] Chr17:57119154..57148328 [GRCh37]
Chr17:17q22		 pathogenic
NC_000017.10:g.(?_56798087)_(57771213_?)dup duplication not provided [RCV003119567] Chr17:56798087..57771213 [GRCh37]
Chr17:17q22-23.1		 uncertain significance
NM_015294.6(TRIM37):c.422C>A (p.Thr141Asn) single nucleotide variant Inborn genetic diseases [RCV003295657] Chr17:59081167 [GRCh38]
Chr17:57158528 [GRCh37]
Chr17:17q22		 uncertain significance
NM_015294.6(TRIM37):c.2360A>G (p.Lys787Arg) single nucleotide variant Inborn genetic diseases [RCV004684665] Chr17:59017322 [GRCh38]
Chr17:57094683 [GRCh37]
Chr17:17q22		 uncertain significance
NM_015294.6(TRIM37):c.137_138del (p.Glu46fs) microsatellite Mulibrey nanism syndrome [RCV002283740]|not provided [RCV003096374] Chr17:59091326..59091327 [GRCh38]
Chr17:57168687..57168688 [GRCh37]
Chr17:17q22		 pathogenic
NM_015294.6(TRIM37):c.745C>G (p.Gln249Glu) single nucleotide variant not provided [RCV002304690] Chr17:59070887 [GRCh38]
Chr17:57148248 [GRCh37]
Chr17:17q22		 uncertain significance
NM_015294.6(TRIM37):c.2657C>G (p.Pro886Arg) single nucleotide variant Inborn genetic diseases [RCV004684663] Chr17:59012366 [GRCh38]
Chr17:57089727 [GRCh37]
Chr17:17q22		 uncertain significance
NM_015294.6(TRIM37):c.2759G>T (p.Ser920Ile) single nucleotide variant Inborn genetic diseases [RCV004684664] Chr17:59001651 [GRCh38]
Chr17:57079012 [GRCh37]
Chr17:17q22		 uncertain significance
NM_015294.6(TRIM37):c.2062A>G (p.Met688Val) single nucleotide variant not provided [RCV002308844] Chr17:59028610 [GRCh38]
Chr17:57105971 [GRCh37]
Chr17:17q22		 uncertain significance
NM_015294.6(TRIM37):c.1153G>T (p.Ala385Ser) single nucleotide variant Inborn genetic diseases [RCV002776991] Chr17:59056921 [GRCh38]
Chr17:57134282 [GRCh37]
Chr17:17q22		 uncertain significance
NM_015294.6(TRIM37):c.123+8G>A single nucleotide variant not provided [RCV002615029] Chr17:59104285 [GRCh38]
Chr17:57181646 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.2870A>G (p.Asn957Ser) single nucleotide variant not provided [RCV002461668] Chr17:58999402 [GRCh38]
Chr17:57076763 [GRCh37]
Chr17:17q22		 uncertain significance
NM_015294.6(TRIM37):c.1930T>A (p.Ser644Thr) single nucleotide variant Inborn genetic diseases [RCV002859219] Chr17:59031914 [GRCh38]
Chr17:57109275 [GRCh37]
Chr17:17q22		 uncertain significance
NM_015294.6(TRIM37):c.1368A>G (p.Pro456=) single nucleotide variant not provided [RCV002613548] Chr17:59049340 [GRCh38]
Chr17:57126701 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.1295A>G (p.Gln432Arg) single nucleotide variant not provided [RCV002904109] Chr17:59051233 [GRCh38]
Chr17:57128594 [GRCh37]
Chr17:17q22		 uncertain significance
NM_015294.6(TRIM37):c.1757G>A (p.Ser586Asn) single nucleotide variant Inborn genetic diseases [RCV002865439] Chr17:59032087 [GRCh38]
Chr17:57109448 [GRCh37]
Chr17:17q22		 uncertain significance
NM_015294.6(TRIM37):c.572C>G (p.Ala191Gly) single nucleotide variant not provided [RCV002902918] Chr17:59079798 [GRCh38]
Chr17:57157159 [GRCh37]
Chr17:17q22		 uncertain significance
NM_015294.6(TRIM37):c.498G>A (p.Arg166=) single nucleotide variant not provided [RCV002771038] Chr17:59079872 [GRCh38]
Chr17:57157233 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.1020-9C>A single nucleotide variant not provided [RCV002613789] Chr17:59057063 [GRCh38]
Chr17:57134424 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.164+10T>C single nucleotide variant not provided [RCV002754953] Chr17:59091290 [GRCh38]
Chr17:57168651 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.2368T>C (p.Cys790Arg) single nucleotide variant not provided [RCV002730763] Chr17:59017314 [GRCh38]
Chr17:57094675 [GRCh37]
Chr17:17q22		 uncertain significance
NM_015294.6(TRIM37):c.1765G>A (p.Gly589Ser) single nucleotide variant not provided [RCV002685452] Chr17:59032079 [GRCh38]
Chr17:57109440 [GRCh37]
Chr17:17q22		 uncertain significance
NM_014906.5(PPM1E):c.2261T>C (p.Ile754Thr) single nucleotide variant not specified [RCV004162502] Chr17:58981024 [GRCh38]
Chr17:57058385 [GRCh37]
Chr17:17q22		 uncertain significance
NM_014906.5(PPM1E):c.2202G>A (p.Met734Ile) single nucleotide variant not specified [RCV004132826] Chr17:58980965 [GRCh38]
Chr17:57058326 [GRCh37]
Chr17:17q22		 uncertain significance
NM_015294.6(TRIM37):c.2655G>C (p.Gln885His) single nucleotide variant not provided [RCV002819231] Chr17:59012368 [GRCh38]
Chr17:57089729 [GRCh37]
Chr17:17q22		 uncertain significance
NM_015294.6(TRIM37):c.2834A>G (p.Asp945Gly) single nucleotide variant Inborn genetic diseases [RCV004067030]|not provided [RCV002927800] Chr17:58999438 [GRCh38]
Chr17:57076799 [GRCh37]
Chr17:17q22		 uncertain significance
NM_015294.6(TRIM37):c.787C>G (p.Pro263Ala) single nucleotide variant not provided [RCV003081695] Chr17:59070845 [GRCh38]
Chr17:57148206 [GRCh37]
Chr17:17q22		 uncertain significance
NM_015294.6(TRIM37):c.2678C>T (p.Ser893Leu) single nucleotide variant not provided [RCV002928016] Chr17:59012345 [GRCh38]
Chr17:57089706 [GRCh37]
Chr17:17q22		 uncertain significance
NM_015294.6(TRIM37):c.282-17C>G single nucleotide variant not provided [RCV002662632] Chr17:59084106 [GRCh38]
Chr17:57161467 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.369+17C>G single nucleotide variant not provided [RCV002825575] Chr17:59083985 [GRCh38]
Chr17:57161346 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.2241T>G (p.Asn747Lys) single nucleotide variant not provided [RCV002593222] Chr17:59028431 [GRCh38]
Chr17:57105792 [GRCh37]
Chr17:17q22		 uncertain significance
NM_015294.6(TRIM37):c.736A>T (p.Met246Leu) single nucleotide variant Inborn genetic diseases [RCV002799320] Chr17:59070896 [GRCh38]
Chr17:57148257 [GRCh37]
Chr17:17q22		 uncertain significance
NM_015294.6(TRIM37):c.809+10A>G single nucleotide variant not provided [RCV003036001] Chr17:59070813 [GRCh38]
Chr17:57148174 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.608C>T (p.Thr203Ile) single nucleotide variant not provided [RCV002912536] Chr17:59079762 [GRCh38]
Chr17:57157123 [GRCh37]
Chr17:17q22		 uncertain significance
NM_015294.6(TRIM37):c.2279C>T (p.Ser760Leu) single nucleotide variant not provided [RCV002638460] Chr17:59017403 [GRCh38]
Chr17:57094764 [GRCh37]
Chr17:17q22		 uncertain significance
NM_014906.5(PPM1E):c.1762C>T (p.Pro588Ser) single nucleotide variant not specified [RCV004117386] Chr17:58980525 [GRCh38]
Chr17:57057886 [GRCh37]
Chr17:17q22		 uncertain significance
NM_015294.6(TRIM37):c.2849G>A (p.Gly950Asp) single nucleotide variant Inborn genetic diseases [RCV003164790]|not provided [RCV002571116] Chr17:58999423 [GRCh38]
Chr17:57076784 [GRCh37]
Chr17:17q22		 uncertain significance
NM_015294.6(TRIM37):c.539G>A (p.Arg180Gln) single nucleotide variant not provided [RCV003078369] Chr17:59079831 [GRCh38]
Chr17:57157192 [GRCh37]
Chr17:17q22		 uncertain significance
NM_014906.5(PPM1E):c.1978C>G (p.Pro660Ala) single nucleotide variant not specified [RCV004153832] Chr17:58980741 [GRCh38]
Chr17:57058102 [GRCh37]
Chr17:17q22		 uncertain significance
NM_015294.6(TRIM37):c.755A>G (p.His252Arg) single nucleotide variant Inborn genetic diseases [RCV002799779] Chr17:59070877 [GRCh38]
Chr17:57148238 [GRCh37]
Chr17:17q22		 uncertain significance
NM_015294.6(TRIM37):c.574C>T (p.Arg192Trp) single nucleotide variant Inborn genetic diseases [RCV002977244] Chr17:59079796 [GRCh38]
Chr17:57157157 [GRCh37]
Chr17:17q22		 uncertain significance
NM_015294.6(TRIM37):c.1723dup (p.Met575fs) duplication not provided [RCV002889245] Chr17:59041842..59041843 [GRCh38]
Chr17:57119203..57119204 [GRCh37]
Chr17:17q22		 pathogenic
NM_015294.6(TRIM37):c.2324G>A (p.Arg775Gln) single nucleotide variant Inborn genetic diseases [RCV003349038]|not provided [RCV002619002] Chr17:59017358 [GRCh38]
Chr17:57094719 [GRCh37]
Chr17:17q22		 uncertain significance
NM_015294.6(TRIM37):c.2715C>T (p.Asp905=) single nucleotide variant not provided [RCV003080317] Chr17:59001695 [GRCh38]
Chr17:57079056 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.417C>T (p.His139=) single nucleotide variant not provided [RCV002780196] Chr17:59081172 [GRCh38]
Chr17:57158533 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.2369G>C (p.Cys790Ser) single nucleotide variant Inborn genetic diseases [RCV002644796] Chr17:59017313 [GRCh38]
Chr17:57094674 [GRCh37]
Chr17:17q22		 uncertain significance
NM_015294.6(TRIM37):c.2368T>A (p.Cys790Ser) single nucleotide variant Inborn genetic diseases [RCV002644795] Chr17:59017314 [GRCh38]
Chr17:57094675 [GRCh37]
Chr17:17q22		 uncertain significance
NM_015294.6(TRIM37):c.2249T>C (p.Ile750Thr) single nucleotide variant not provided [RCV002958914] Chr17:59028423 [GRCh38]
Chr17:57105784 [GRCh37]
Chr17:17q22		 uncertain significance
NM_015294.6(TRIM37):c.2188G>A (p.Gly730Ser) single nucleotide variant Inborn genetic diseases [RCV002713426] Chr17:59028484 [GRCh38]
Chr17:57105845 [GRCh37]
Chr17:17q22		 uncertain significance
NM_014906.5(PPM1E):c.1774T>G (p.Phe592Val) single nucleotide variant not specified [RCV004181896] Chr17:58980537 [GRCh38]
Chr17:57057898 [GRCh37]
Chr17:17q22		 uncertain significance
NM_015294.6(TRIM37):c.1554G>C (p.Leu518=) single nucleotide variant not provided [RCV003082006] Chr17:59047796 [GRCh38]
Chr17:57125157 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.2512G>C (p.Val838Leu) single nucleotide variant not provided [RCV002574341] Chr17:59015674 [GRCh38]
Chr17:57093035 [GRCh37]
Chr17:17q22		 uncertain significance
NM_015294.6(TRIM37):c.1189G>A (p.Val397Met) single nucleotide variant Inborn genetic diseases [RCV004069092]|not provided [RCV002623281] Chr17:59056885 [GRCh38]
Chr17:57134246 [GRCh37]
Chr17:17q22		 uncertain significance
NM_015294.6(TRIM37):c.296A>G (p.His99Arg) single nucleotide variant Inborn genetic diseases [RCV003003756]|not provided [RCV003481430] Chr17:59084075 [GRCh38]
Chr17:57161436 [GRCh37]
Chr17:17q22		 uncertain significance
NM_015294.6(TRIM37):c.1829del (p.Ser610fs) deletion not provided [RCV003042785] Chr17:59032015 [GRCh38]
Chr17:57109376 [GRCh37]
Chr17:17q22		 pathogenic
NM_015294.6(TRIM37):c.21+14G>T single nucleotide variant not provided [RCV002932812] Chr17:59106427 [GRCh38]
Chr17:57183788 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.659C>T (p.Ser220Phe) single nucleotide variant not provided [RCV002829190] Chr17:59075672 [GRCh38]
Chr17:57153033 [GRCh37]
Chr17:17q22		 uncertain significance
NM_015294.6(TRIM37):c.2617A>G (p.Thr873Ala) single nucleotide variant not provided [RCV002573135] Chr17:59012406 [GRCh38]
Chr17:57089767 [GRCh37]
Chr17:17q22		 uncertain significance
NM_015294.6(TRIM37):c.170C>T (p.Pro57Leu) single nucleotide variant not provided [RCV002852825] Chr17:59088402 [GRCh38]
Chr17:57165763 [GRCh37]
Chr17:17q22		 uncertain significance
NM_015294.6(TRIM37):c.758G>A (p.Arg253Gln) single nucleotide variant not provided [RCV002791129] Chr17:59070874 [GRCh38]
Chr17:57148235 [GRCh37]
Chr17:17q22		 uncertain significance
NM_015294.6(TRIM37):c.2476G>A (p.Glu826Lys) single nucleotide variant not provided [RCV002919079] Chr17:59015710 [GRCh38]
Chr17:57093071 [GRCh37]
Chr17:17q22		 uncertain significance
NM_015294.6(TRIM37):c.1698C>A (p.Asn566Lys) single nucleotide variant not provided [RCV003084125] Chr17:59041868 [GRCh38]
Chr17:57119229 [GRCh37]
Chr17:17q22		 uncertain significance
NM_015294.6(TRIM37):c.2629A>G (p.Asn877Asp) single nucleotide variant Inborn genetic diseases [RCV003003648] Chr17:59012394 [GRCh38]
Chr17:57089755 [GRCh37]
Chr17:17q22		 uncertain significance
NM_014906.5(PPM1E):c.1450A>G (p.Ile484Val) single nucleotide variant not specified [RCV004231480] Chr17:58980213 [GRCh38]
Chr17:57057574 [GRCh37]
Chr17:17q22		 uncertain significance
NM_015294.6(TRIM37):c.1753+11C>T single nucleotide variant not provided [RCV002624341] Chr17:59041802 [GRCh38]
Chr17:57119163 [GRCh37]
Chr17:17q22		 likely benign
NM_014906.5(PPM1E):c.1966C>G (p.Gln656Glu) single nucleotide variant not specified [RCV004094012] Chr17:58980729 [GRCh38]
Chr17:57058090 [GRCh37]
Chr17:17q22		 uncertain significance
NM_015294.6(TRIM37):c.1272T>A (p.Ala424=) single nucleotide variant not provided [RCV003031281] Chr17:59051256 [GRCh38]
Chr17:57128617 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.2623T>A (p.Leu875Met) single nucleotide variant not provided [RCV002632987] Chr17:59012400 [GRCh38]
Chr17:57089761 [GRCh37]
Chr17:17q22		 uncertain significance
NM_015294.6(TRIM37):c.1432T>A (p.Ser478Thr) single nucleotide variant Inborn genetic diseases [RCV002813324] Chr17:59049276 [GRCh38]
Chr17:57126637 [GRCh37]
Chr17:17q22		 uncertain significance
NM_015294.6(TRIM37):c.943-10C>A single nucleotide variant not provided [RCV002647275] Chr17:59061118 [GRCh38]
Chr17:57138479 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.2705G>C (p.Ser902Thr) single nucleotide variant not provided [RCV002632590] Chr17:59001705 [GRCh38]
Chr17:57079066 [GRCh37]
Chr17:17q22		 uncertain significance
NM_014906.5(PPM1E):c.2259A>C (p.Lys753Asn) single nucleotide variant not specified [RCV004170896] Chr17:58981022 [GRCh38]
Chr17:57058383 [GRCh37]
Chr17:17q22		 uncertain significance
NM_015294.6(TRIM37):c.1321A>G (p.Thr441Ala) single nucleotide variant not provided [RCV002933738] Chr17:59049387 [GRCh38]
Chr17:57126748 [GRCh37]
Chr17:17q22		 uncertain significance
NM_015294.6(TRIM37):c.684+16A>G single nucleotide variant not provided [RCV002834575] Chr17:59075631 [GRCh38]
Chr17:57152992 [GRCh37]
Chr17:17q22		 uncertain significance
NM_015294.6(TRIM37):c.2824A>C (p.Ser942Arg) single nucleotide variant not provided [RCV002962669] Chr17:58999448 [GRCh38]
Chr17:57076809 [GRCh37]
Chr17:17q22		 uncertain significance
NM_015294.6(TRIM37):c.627A>G (p.Thr209=) single nucleotide variant not provided [RCV003044101] Chr17:59075704 [GRCh38]
Chr17:57153065 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.1200-13C>A single nucleotide variant not provided [RCV002630515] Chr17:59051341 [GRCh38]
Chr17:57128702 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.378A>G (p.Gly126=) single nucleotide variant not provided [RCV002577962] Chr17:59081211 [GRCh38]
Chr17:57158572 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.1052C>T (p.Ser351Phe) single nucleotide variant not provided [RCV003091335] Chr17:59057022 [GRCh38]
Chr17:57134383 [GRCh37]
Chr17:17q22		 uncertain significance
NM_015294.6(TRIM37):c.912A>G (p.Ser304=) single nucleotide variant not provided [RCV002988768] Chr17:59062597 [GRCh38]
Chr17:57139958 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.2353C>T (p.Arg785Cys) single nucleotide variant not provided [RCV003064770] Chr17:59017329 [GRCh38]
Chr17:57094690 [GRCh37]
Chr17:17q22		 uncertain significance
NM_015294.6(TRIM37):c.2047G>A (p.Ala683Thr) single nucleotide variant Inborn genetic diseases [RCV002922781]|not provided [RCV002922780] Chr17:59028625 [GRCh38]
Chr17:57105986 [GRCh37]
Chr17:17q22		 uncertain significance
NM_015294.6(TRIM37):c.2258-1G>A single nucleotide variant not provided [RCV002600369] Chr17:59017425 [GRCh38]
Chr17:57094786 [GRCh37]
Chr17:17q22		 likely pathogenic
NM_015294.6(TRIM37):c.2742G>A (p.Glu914=) single nucleotide variant not provided [RCV002627849] Chr17:59001668 [GRCh38]
Chr17:57079029 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.1804C>T (p.His602Tyr) single nucleotide variant not provided [RCV003031513] Chr17:59032040 [GRCh38]
Chr17:57109401 [GRCh37]
Chr17:17q22		 uncertain significance
NM_015294.6(TRIM37):c.169C>A (p.Pro57Thr) single nucleotide variant Inborn genetic diseases [RCV003167501]|not provided [RCV002634902] Chr17:59088403 [GRCh38]
Chr17:57165764 [GRCh37]
Chr17:17q22		 uncertain significance
NM_015294.6(TRIM37):c.1730A>G (p.Asp577Gly) single nucleotide variant Inborn genetic diseases [RCV003161681]|not provided [RCV003067745] Chr17:59041836 [GRCh38]
Chr17:57119197 [GRCh37]
Chr17:17q22		 uncertain significance
NM_015294.6(TRIM37):c.2385A>G (p.Glu795=) single nucleotide variant not provided [RCV003067159] Chr17:59017297 [GRCh38]
Chr17:57094658 [GRCh37]
Chr17:17q22		 uncertain significance
NM_015294.6(TRIM37):c.2410_2412del (p.Gly804del) deletion not provided [RCV002654936] Chr17:59015774..59015776 [GRCh38]
Chr17:57093135..57093137 [GRCh37]
Chr17:17q22		 uncertain significance
NM_015294.6(TRIM37):c.906A>G (p.Gln302=) single nucleotide variant not provided [RCV003066277] Chr17:59062603 [GRCh38]
Chr17:57139964 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.1199+5C>G single nucleotide variant not provided [RCV003072762] Chr17:59056870 [GRCh38]
Chr17:57134231 [GRCh37]
Chr17:17q22		 uncertain significance
NM_015294.6(TRIM37):c.2706C>T (p.Ser902=) single nucleotide variant not provided [RCV002585585] Chr17:59001704 [GRCh38]
Chr17:57079065 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.343C>T (p.His115Tyr) single nucleotide variant not provided [RCV002814475] Chr17:59084028 [GRCh38]
Chr17:57161389 [GRCh37]
Chr17:17q22		 uncertain significance
NM_015294.6(TRIM37):c.861-20T>G single nucleotide variant not provided [RCV002611262] Chr17:59062668 [GRCh38]
Chr17:57140029 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.616+13G>A single nucleotide variant not provided [RCV003068630] Chr17:59079741 [GRCh38]
Chr17:57157102 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.1878G>A (p.Lys626=) single nucleotide variant not provided [RCV002610510] Chr17:59031966 [GRCh38]
Chr17:57109327 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.213A>G (p.Glu71=) single nucleotide variant not provided [RCV003092333] Chr17:59088359 [GRCh38]
Chr17:57165720 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.1048C>T (p.Gln350Ter) single nucleotide variant Mulibrey nanism syndrome [RCV003131769] Chr17:59057026 [GRCh38]
Chr17:57134387 [GRCh37]
Chr17:17q22		 likely pathogenic
NM_015294.6(TRIM37):c.1555G>C (p.Asp519His) single nucleotide variant Inborn genetic diseases [RCV003197135] Chr17:59047795 [GRCh38]
Chr17:57125156 [GRCh37]
Chr17:17q22		 uncertain significance
NM_014906.5(PPM1E):c.881G>A (p.Arg294His) single nucleotide variant not specified [RCV004251373] Chr17:58969636 [GRCh38]
Chr17:57046997 [GRCh37]
Chr17:17q22		 uncertain significance
NM_015294.6(TRIM37):c.1379T>C (p.Leu460Pro) single nucleotide variant Inborn genetic diseases [RCV003202587] Chr17:59049329 [GRCh38]
Chr17:57126690 [GRCh37]
Chr17:17q22		 uncertain significance
NM_015294.6(TRIM37):c.2002G>A (p.Val668Met) single nucleotide variant Mulibrey nanism syndrome [RCV003142780] Chr17:59028670 [GRCh38]
Chr17:57106031 [GRCh37]
Chr17:17q22		 uncertain significance
NM_015294.6(TRIM37):c.2482C>T (p.Arg828Trp) single nucleotide variant Inborn genetic diseases [RCV003309205] Chr17:59015704 [GRCh38]
Chr17:57093065 [GRCh37]
Chr17:17q22		 uncertain significance
NM_015294.6(TRIM37):c.6T>A (p.Asp2Glu) single nucleotide variant Inborn genetic diseases [RCV003305146] Chr17:59106456 [GRCh38]
Chr17:57183817 [GRCh37]
Chr17:17q22		 uncertain significance
NM_014906.5(PPM1E):c.815T>C (p.Phe272Ser) single nucleotide variant not specified [RCV004358804] Chr17:58969570 [GRCh38]
Chr17:57046931 [GRCh37]
Chr17:17q22		 uncertain significance
NM_014906.5(PPM1E):c.1979C>T (p.Pro660Leu) single nucleotide variant not specified [RCV004342502] Chr17:58980742 [GRCh38]
Chr17:57058103 [GRCh37]
Chr17:17q22		 likely benign
NM_014906.5(PPM1E):c.2035C>T (p.His679Tyr) single nucleotide variant not specified [RCV004339036] Chr17:58980798 [GRCh38]
Chr17:57058159 [GRCh37]
Chr17:17q22		 uncertain significance
NM_015294.6(TRIM37):c.1531-6A>T single nucleotide variant not provided [RCV003686178] Chr17:59047825 [GRCh38]
Chr17:57125186 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.1768dup (p.Tyr590fs) duplication not provided [RCV003569380] Chr17:59032075..59032076 [GRCh38]
Chr17:57109436..57109437 [GRCh37]
Chr17:17q22		 pathogenic
NM_015294.6(TRIM37):c.617-15A>G single nucleotide variant not provided [RCV003570770] Chr17:59075729 [GRCh38]
Chr17:57153090 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.2387-20C>G single nucleotide variant not provided [RCV003569382] Chr17:59015819 [GRCh38]
Chr17:57093180 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.640G>T (p.Glu214Ter) single nucleotide variant Mulibrey nanism syndrome [RCV003474150] Chr17:59075691 [GRCh38]
Chr17:57153052 [GRCh37]
Chr17:17q22		 likely pathogenic
NM_015294.6(TRIM37):c.1291C>T (p.Gln431Ter) single nucleotide variant Mulibrey nanism syndrome [RCV003474153]|not provided [RCV003779131] Chr17:59051237 [GRCh38]
Chr17:57128598 [GRCh37]
Chr17:17q22		 pathogenic|likely pathogenic
NM_015294.6(TRIM37):c.1929T>C (p.Ala643=) single nucleotide variant not provided [RCV003571475] Chr17:59031915 [GRCh38]
Chr17:57109276 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.1197A>G (p.Leu399=) single nucleotide variant not provided [RCV003571679] Chr17:59056877 [GRCh38]
Chr17:57134238 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.1911A>G (p.Leu637=) single nucleotide variant not provided [RCV003873897] Chr17:59031933 [GRCh38]
Chr17:57109294 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.943-13A>T single nucleotide variant not provided [RCV003570651] Chr17:59061121 [GRCh38]
Chr17:57138482 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.861-4T>A single nucleotide variant not provided [RCV003873918] Chr17:59062652 [GRCh38]
Chr17:57140013 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.1023T>C (p.Tyr341=) single nucleotide variant not provided [RCV003570650] Chr17:59057051 [GRCh38]
Chr17:57134412 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.2257+15C>G single nucleotide variant not provided [RCV003571047] Chr17:59028400 [GRCh38]
Chr17:57105761 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.1383C>T (p.Ser461=) single nucleotide variant not provided [RCV003571471] Chr17:59049325 [GRCh38]
Chr17:57126686 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.2544G>C (p.Ala848=) single nucleotide variant not provided [RCV003874346] Chr17:59015642 [GRCh38]
Chr17:57093003 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.1410A>G (p.Thr470=) single nucleotide variant not provided [RCV003570615] Chr17:59049298 [GRCh38]
Chr17:57126659 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.861-5G>A single nucleotide variant not provided [RCV003874350] Chr17:59062653 [GRCh38]
Chr17:57140014 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.1269A>G (p.Glu423=) single nucleotide variant not provided [RCV003571121] Chr17:59051259 [GRCh38]
Chr17:57128620 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.1620C>T (p.Ser540=) single nucleotide variant not provided [RCV003873389] Chr17:59047730 [GRCh38]
Chr17:57125091 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.1129A>C (p.Arg377=) single nucleotide variant not provided [RCV003543361] Chr17:59056945 [GRCh38]
Chr17:57134306 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.492+17A>C single nucleotide variant not provided [RCV003571809] Chr17:59081080 [GRCh38]
Chr17:57158441 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.2391C>T (p.Ser797=) single nucleotide variant not provided [RCV003874914] Chr17:59015795 [GRCh38]
Chr17:57093156 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.1527T>A (p.Tyr509Ter) single nucleotide variant not provided [RCV003686303] Chr17:59049181 [GRCh38]
Chr17:57126542 [GRCh37]
Chr17:17q22		 pathogenic
NM_015294.6(TRIM37):c.1081C>T (p.Arg361Ter) single nucleotide variant Mulibrey nanism syndrome [RCV003474142]|not provided [RCV003732597] Chr17:59056993 [GRCh38]
Chr17:57134354 [GRCh37]
Chr17:17q22		 pathogenic|likely pathogenic
NM_015294.6(TRIM37):c.2437_2438insAT (p.Leu813fs) insertion Mulibrey nanism syndrome [RCV003474144] Chr17:59015748..59015749 [GRCh38]
Chr17:57093109..57093110 [GRCh37]
Chr17:17q22		 pathogenic
NM_015294.6(TRIM37):c.609_610del (p.Leu204fs) microsatellite Mulibrey nanism syndrome [RCV003474145] Chr17:59079760..59079761 [GRCh38]
Chr17:57157121..57157122 [GRCh37]
Chr17:17q22		 likely pathogenic
NM_015294.6(TRIM37):c.1019+2dup duplication Mulibrey nanism syndrome [RCV003474147] Chr17:59061029..59061030 [GRCh38]
Chr17:57138390..57138391 [GRCh37]
Chr17:17q22		 likely pathogenic
NM_015294.6(TRIM37):c.40C>T (p.Arg14Ter) single nucleotide variant Mulibrey nanism syndrome [RCV003474148] Chr17:59104376 [GRCh38]
Chr17:57181737 [GRCh37]
Chr17:17q22		 likely pathogenic
NM_015294.6(TRIM37):c.1668-1G>C single nucleotide variant Mulibrey nanism syndrome [RCV003474141] Chr17:59041899 [GRCh38]
Chr17:57119260 [GRCh37]
Chr17:17q22		 likely pathogenic
NM_015294.6(TRIM37):c.2380_2383del (p.Ser794fs) microsatellite Mulibrey nanism syndrome [RCV003474161]|not provided [RCV003708817] Chr17:59017299..59017302 [GRCh38]
Chr17:57094660..57094663 [GRCh37]
Chr17:17q22		 pathogenic|likely pathogenic
NM_015294.6(TRIM37):c.1020-1G>C single nucleotide variant Mulibrey nanism syndrome [RCV003474138]|not provided [RCV003779129] Chr17:59057055 [GRCh38]
Chr17:57134416 [GRCh37]
Chr17:17q22		 likely pathogenic
NM_015294.6(TRIM37):c.2246dup (p.Tyr749Ter) duplication Mulibrey nanism syndrome [RCV003474155] Chr17:59028425..59028426 [GRCh38]
Chr17:57105786..57105787 [GRCh37]
Chr17:17q22		 likely pathogenic
NM_015294.6(TRIM37):c.13_14del (p.Ser5fs) microsatellite Mulibrey nanism syndrome [RCV003474134] Chr17:59106448..59106449 [GRCh38]
Chr17:57183809..57183810 [GRCh37]
Chr17:17q22		 likely pathogenic
NM_015294.6(TRIM37):c.123+1G>A single nucleotide variant Mulibrey nanism syndrome [RCV003474143] Chr17:59104292 [GRCh38]
Chr17:57181653 [GRCh37]
Chr17:17q22		 likely pathogenic
NM_015294.6(TRIM37):c.961C>T (p.Arg321Ter) single nucleotide variant Mulibrey nanism syndrome [RCV003474159] Chr17:59061090 [GRCh38]
Chr17:57138451 [GRCh37]
Chr17:17q22		 likely pathogenic
NM_015294.6(TRIM37):c.1289dup (p.Gln431fs) duplication Mulibrey nanism syndrome [RCV003474137] Chr17:59051238..59051239 [GRCh38]
Chr17:57128599..57128600 [GRCh37]
Chr17:17q22		 likely pathogenic
NM_015294.6(TRIM37):c.2293C>T (p.Arg765Ter) single nucleotide variant Mulibrey nanism syndrome [RCV003474139]|not provided [RCV003689100] Chr17:59017389 [GRCh38]
Chr17:57094750 [GRCh37]
Chr17:17q22		 pathogenic|likely pathogenic
NM_015294.6(TRIM37):c.265G>T (p.Glu89Ter) single nucleotide variant Mulibrey nanism syndrome [RCV003474149] Chr17:59088307 [GRCh38]
Chr17:57165668 [GRCh37]
Chr17:17q22		 likely pathogenic
NM_015294.6(TRIM37):c.2015dup (p.Leu672fs) duplication Mulibrey nanism syndrome [RCV003474157] Chr17:59028656..59028657 [GRCh38]
Chr17:57106017..57106018 [GRCh37]
Chr17:17q22		 likely pathogenic
NM_014906.5(PPM1E):c.2053C>T (p.Pro685Ser) single nucleotide variant not provided [RCV003428348] Chr17:58980816 [GRCh38]
Chr17:57058177 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.617-5A>C single nucleotide variant not provided [RCV003852883] Chr17:59075719 [GRCh38]
Chr17:57153080 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.617-1G>A single nucleotide variant TRIM37-related disorder [RCV003400359]|not provided [RCV003553909] Chr17:59075715 [GRCh38]
Chr17:57153076 [GRCh37]
Chr17:17q22		 likely pathogenic
NM_015294.6(TRIM37):c.2237_2243del (p.Ala746fs) deletion Mulibrey nanism syndrome [RCV003474135] Chr17:59028429..59028435 [GRCh38]
Chr17:57105790..57105796 [GRCh37]
Chr17:17q22		 likely pathogenic
NM_015294.6(TRIM37):c.1987C>T (p.Gln663Ter) single nucleotide variant Mulibrey nanism syndrome [RCV003474136] Chr17:59028685 [GRCh38]
Chr17:57106046 [GRCh37]
Chr17:17q22		 likely pathogenic
NM_015294.6(TRIM37):c.1320_1323del (p.Thr441fs) deletion Mulibrey nanism syndrome [RCV003474151] Chr17:59049385..59049388 [GRCh38]
Chr17:57126746..57126749 [GRCh37]
Chr17:17q22		 likely pathogenic
NM_015294.6(TRIM37):c.1808T>A (p.Leu603Ter) single nucleotide variant Mulibrey nanism syndrome [RCV003474152] Chr17:59032036 [GRCh38]
Chr17:57109397 [GRCh37]
Chr17:17q22		 likely pathogenic
NM_015294.6(TRIM37):c.165-2A>G single nucleotide variant Mulibrey nanism syndrome [RCV003474154] Chr17:59088409 [GRCh38]
Chr17:57165770 [GRCh37]
Chr17:17q22		 likely pathogenic
NM_015294.6(TRIM37):c.2804del (p.Pro935fs) deletion Mulibrey nanism syndrome [RCV003474158] Chr17:59001606 [GRCh38]
Chr17:57078967 [GRCh37]
Chr17:17q22		 likely pathogenic
NM_015294.6(TRIM37):c.637C>T (p.Gln213Ter) single nucleotide variant Mulibrey nanism syndrome [RCV003474160] Chr17:59075694 [GRCh38]
Chr17:57153055 [GRCh37]
Chr17:17q22		 likely pathogenic
NM_015294.6(TRIM37):c.1999C>T (p.Arg667Ter) single nucleotide variant Mulibrey nanism syndrome [RCV003474140]|not provided [RCV003779130] Chr17:59028673 [GRCh38]
Chr17:57106034 [GRCh37]
Chr17:17q22		 pathogenic
NM_015294.6(TRIM37):c.937del (p.Tyr313fs) deletion Mulibrey nanism syndrome [RCV003474146]|not provided [RCV003553973] Chr17:59062572 [GRCh38]
Chr17:57139933 [GRCh37]
Chr17:17q22		 pathogenic|likely pathogenic
NM_015294.6(TRIM37):c.2377_2378del (p.Leu793fs) microsatellite Mulibrey nanism syndrome [RCV003474156] Chr17:59017304..59017305 [GRCh38]
Chr17:57094665..57094666 [GRCh37]
Chr17:17q22		 pathogenic
NM_015294.6(TRIM37):c.2689G>A (p.Glu897Lys) single nucleotide variant not provided [RCV003421377] Chr17:59012334 [GRCh38]
Chr17:57089695 [GRCh37]
Chr17:17q22		 uncertain significance
NM_015294.6(TRIM37):c.165-5C>G single nucleotide variant not provided [RCV003579452] Chr17:59088412 [GRCh38]
Chr17:57165773 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.81del (p.Cys28fs) deletion Mulibrey nanism syndrome [RCV004573202]|not provided [RCV003696812] Chr17:59104335 [GRCh38]
Chr17:57181696 [GRCh37]
Chr17:17q22		 pathogenic|likely pathogenic
NM_015294.6(TRIM37):c.124-7C>A single nucleotide variant not provided [RCV003544401] Chr17:59091347 [GRCh38]
Chr17:57168708 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.2169A>C (p.Ala723=) single nucleotide variant not provided [RCV003831577] Chr17:59028503 [GRCh38]
Chr17:57105864 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.1948+20A>G single nucleotide variant not provided [RCV003831586] Chr17:59031876 [GRCh38]
Chr17:57109237 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.2813-19A>G single nucleotide variant not provided [RCV003831801] Chr17:58999478 [GRCh38]
Chr17:57076839 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.492+7C>T single nucleotide variant not provided [RCV003738943] Chr17:59081090 [GRCh38]
Chr17:57158451 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.1350A>T (p.Ser450=) single nucleotide variant not provided [RCV003694676] Chr17:59049358 [GRCh38]
Chr17:57126719 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.1949-4G>A single nucleotide variant not provided [RCV003825799] Chr17:59028727 [GRCh38]
Chr17:57106088 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.2163G>C (p.Leu721=) single nucleotide variant not provided [RCV003574128] Chr17:59028509 [GRCh38]
Chr17:57105870 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.2571C>G (p.Thr857=) single nucleotide variant not provided [RCV003829829] Chr17:59015615 [GRCh38]
Chr17:57092976 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.943-10C>T single nucleotide variant not provided [RCV003716316] Chr17:59061118 [GRCh38]
Chr17:57138479 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.1668-12G>T single nucleotide variant not provided [RCV003547704] Chr17:59041910 [GRCh38]
Chr17:57119271 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.1761C>T (p.Ser587=) single nucleotide variant not provided [RCV003576452] Chr17:59032083 [GRCh38]
Chr17:57109444 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.164+8T>G single nucleotide variant not provided [RCV003693899] Chr17:59091292 [GRCh38]
Chr17:57168653 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.2775C>T (p.His925=) single nucleotide variant not provided [RCV003882064] Chr17:59001635 [GRCh38]
Chr17:57078996 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.2577-16T>G single nucleotide variant not provided [RCV003573396] Chr17:59012462 [GRCh38]
Chr17:57089823 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.1290C>T (p.Ile430=) single nucleotide variant not provided [RCV003544117] Chr17:59051238 [GRCh38]
Chr17:57128599 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.1668-9T>C single nucleotide variant not provided [RCV003547066] Chr17:59041907 [GRCh38]
Chr17:57119268 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.860+20C>A single nucleotide variant not provided [RCV003575653] Chr17:59064335 [GRCh38]
Chr17:57141696 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.2372_2381del (p.Gln791fs) deletion not provided [RCV003687447] Chr17:59017301..59017310 [GRCh38]
Chr17:57094662..57094671 [GRCh37]
Chr17:17q22		 pathogenic
NM_015294.6(TRIM37):c.1020-12T>C single nucleotide variant not provided [RCV003690598] Chr17:59057066 [GRCh38]
Chr17:57134427 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.1020-10dup duplication Mulibrey nanism syndrome [RCV003486276] Chr17:59057063..59057064 [GRCh38]
Chr17:57134424..57134425 [GRCh37]
Chr17:17q22		 uncertain significance
NM_015294.6(TRIM37):c.1667+18_1667+19del deletion not provided [RCV003690866] Chr17:59047664..59047665 [GRCh38]
Chr17:57125025..57125026 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.1245G>A (p.Gln415=) single nucleotide variant not provided [RCV003880151] Chr17:59051283 [GRCh38]
Chr17:57128644 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.164+16C>G single nucleotide variant not provided [RCV003739076] Chr17:59091284 [GRCh38]
Chr17:57168645 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.123+14C>A single nucleotide variant not provided [RCV003575274] Chr17:59104279 [GRCh38]
Chr17:57181640 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.2784C>T (p.Phe928=) single nucleotide variant not provided [RCV003689720] Chr17:59001626 [GRCh38]
Chr17:57078987 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.2387-15T>A single nucleotide variant not provided [RCV003544936] Chr17:59015814 [GRCh38]
Chr17:57093175 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.616+11A>G single nucleotide variant not provided [RCV003575810] Chr17:59079743 [GRCh38]
Chr17:57157104 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.63A>G (p.Lys21=) single nucleotide variant not provided [RCV003547752] Chr17:59104353 [GRCh38]
Chr17:57181714 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.2257+10A>G single nucleotide variant not provided [RCV003693866] Chr17:59028405 [GRCh38]
Chr17:57105766 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.2193A>G (p.Arg731=) single nucleotide variant not provided [RCV003715378] Chr17:59028479 [GRCh38]
Chr17:57105840 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.207A>G (p.Ala69=) single nucleotide variant not provided [RCV003739381] Chr17:59088365 [GRCh38]
Chr17:57165726 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.921C>T (p.Cys307=) single nucleotide variant not provided [RCV003881474] Chr17:59062588 [GRCh38]
Chr17:57139949 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.21+1G>T single nucleotide variant not provided [RCV003578075] Chr17:59106440 [GRCh38]
Chr17:57183801 [GRCh37]
Chr17:17q22		 likely pathogenic
NM_015294.6(TRIM37):c.897A>G (p.Pro299=) single nucleotide variant not provided [RCV003545914] Chr17:59062612 [GRCh38]
Chr17:57139973 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.2257+8A>G single nucleotide variant not provided [RCV003738686] Chr17:59028407 [GRCh38]
Chr17:57105768 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.164+15del deletion not provided [RCV003692251] Chr17:59091285 [GRCh38]
Chr17:57168646 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.860+7G>A single nucleotide variant not provided [RCV003739269] Chr17:59064348 [GRCh38]
Chr17:57141709 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.2812+15G>A single nucleotide variant not provided [RCV003714097] Chr17:59001583 [GRCh38]
Chr17:57078944 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.809+2T>C single nucleotide variant not provided [RCV003692274] Chr17:59070821 [GRCh38]
Chr17:57148182 [GRCh37]
Chr17:17q22		 likely pathogenic
NM_015294.6(TRIM37):c.2313T>C (p.Ser771=) single nucleotide variant not provided [RCV003576797] Chr17:59017369 [GRCh38]
Chr17:57094730 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.810-7T>G single nucleotide variant not provided [RCV003662410] Chr17:59064412 [GRCh38]
Chr17:57141773 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.493-18T>C single nucleotide variant not provided [RCV003548002] Chr17:59079895 [GRCh38]
Chr17:57157256 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.2097A>T (p.Ile699=) single nucleotide variant not provided [RCV003827227] Chr17:59028575 [GRCh38]
Chr17:57105936 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.493-15C>G single nucleotide variant not provided [RCV003827961] Chr17:59079892 [GRCh38]
Chr17:57157253 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.685-15T>C single nucleotide variant not provided [RCV003714711] Chr17:59070962 [GRCh38]
Chr17:57148323 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.1785T>C (p.Ser595=) single nucleotide variant not provided [RCV003879316] Chr17:59032059 [GRCh38]
Chr17:57109420 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.1428A>G (p.Ala476=) single nucleotide variant not provided [RCV003572312] Chr17:59049280 [GRCh38]
Chr17:57126641 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.1667+19T>C single nucleotide variant not provided [RCV003695177] Chr17:59047664 [GRCh38]
Chr17:57125025 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.369+16T>A single nucleotide variant not provided [RCV003577555] Chr17:59083986 [GRCh38]
Chr17:57161347 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.975A>G (p.Leu325=) single nucleotide variant not provided [RCV003686642] Chr17:59061076 [GRCh38]
Chr17:57138437 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.22-12T>A single nucleotide variant not provided [RCV003661682] Chr17:59104406 [GRCh38]
Chr17:57181767 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.1530+18T>C single nucleotide variant not provided [RCV003739121] Chr17:59049160 [GRCh38]
Chr17:57126521 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.1131A>G (p.Arg377=) single nucleotide variant not provided [RCV003739134] Chr17:59056943 [GRCh38]
Chr17:57134304 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.1083A>G (p.Arg361=) single nucleotide variant not provided [RCV003578646] Chr17:59056991 [GRCh38]
Chr17:57134352 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.1667+15_1667+16insAG insertion not provided [RCV003690867] Chr17:59047667..59047668 [GRCh38]
Chr17:57125028..57125029 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.1713G>A (p.Glu571=) single nucleotide variant not provided [RCV003829019] Chr17:59041853 [GRCh38]
Chr17:57119214 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.2805G>A (p.Pro935=) single nucleotide variant not provided [RCV003876757] Chr17:59001605 [GRCh38]
Chr17:57078966 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.2577-19A>C single nucleotide variant not provided [RCV003695294] Chr17:59012465 [GRCh38]
Chr17:57089826 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.2695+16C>T single nucleotide variant not provided [RCV003827797] Chr17:59012312 [GRCh38]
Chr17:57089673 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.360G>A (p.Trp120Ter) single nucleotide variant not provided [RCV003572441] Chr17:59084011 [GRCh38]
Chr17:57161372 [GRCh37]
Chr17:17q22		 pathogenic
NM_015294.6(TRIM37):c.493-21_493-16del deletion not provided [RCV003576497] Chr17:59079893..59079898 [GRCh38]
Chr17:57157254..57157259 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.493-10dup duplication not provided [RCV003714410] Chr17:59079886..59079887 [GRCh38]
Chr17:57157247..57157248 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.1949-4G>T single nucleotide variant not provided [RCV003739583] Chr17:59028727 [GRCh38]
Chr17:57106088 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.2868C>T (p.Phe956=) single nucleotide variant not provided [RCV003575826] Chr17:58999404 [GRCh38]
Chr17:57076765 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.2431C>T (p.Arg811Ter) single nucleotide variant not provided [RCV003875954] Chr17:59015755 [GRCh38]
Chr17:57093116 [GRCh37]
Chr17:17q22		 pathogenic
NM_015294.6(TRIM37):c.123+17T>C single nucleotide variant not provided [RCV003687492] Chr17:59104276 [GRCh38]
Chr17:57181637 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.124-5C>T single nucleotide variant not provided [RCV003575328] Chr17:59091345 [GRCh38]
Chr17:57168706 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.1020-10T>C single nucleotide variant not provided [RCV003739186] Chr17:59057064 [GRCh38]
Chr17:57134425 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.2043A>G (p.Gln681=) single nucleotide variant not provided [RCV003739502] Chr17:59028629 [GRCh38]
Chr17:57105990 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.2388C>T (p.Gly796=) single nucleotide variant not provided [RCV003659823] Chr17:59015798 [GRCh38]
Chr17:57093159 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.2823C>T (p.Ser941=) single nucleotide variant not provided [RCV003661210] Chr17:58999449 [GRCh38]
Chr17:57076810 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.684+12T>C single nucleotide variant not provided [RCV003882453] Chr17:59075635 [GRCh38]
Chr17:57152996 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.1020-3del deletion not provided [RCV003688182] Chr17:59057057 [GRCh38]
Chr17:57134418 [GRCh37]
Chr17:17q22		 benign
NM_015294.6(TRIM37):c.164+18A>G single nucleotide variant not provided [RCV003715168] Chr17:59091282 [GRCh38]
Chr17:57168643 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.1551T>C (p.Asp517=) single nucleotide variant not provided [RCV003544411] Chr17:59047799 [GRCh38]
Chr17:57125160 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.809+11G>A single nucleotide variant not provided [RCV003716082] Chr17:59070812 [GRCh38]
Chr17:57148173 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.2004G>A (p.Val668=) single nucleotide variant not provided [RCV003692283] Chr17:59028668 [GRCh38]
Chr17:57106029 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.1948+14A>G single nucleotide variant not provided [RCV003826640] Chr17:59031882 [GRCh38]
Chr17:57109243 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.281+18T>G single nucleotide variant not provided [RCV003660406] Chr17:59088273 [GRCh38]
Chr17:57165634 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.2808T>C (p.Asp936=) single nucleotide variant not provided [RCV003661430] Chr17:59001602 [GRCh38]
Chr17:57078963 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.135A>G (p.Thr45=) single nucleotide variant not provided [RCV003661809] Chr17:59091329 [GRCh38]
Chr17:57168690 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.165-4C>T single nucleotide variant not provided [RCV003692255] Chr17:59088411 [GRCh38]
Chr17:57165772 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.1824C>T (p.Thr608=) single nucleotide variant not provided [RCV003692364] Chr17:59032020 [GRCh38]
Chr17:57109381 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.495A>G (p.Glu165=) single nucleotide variant not provided [RCV003688290] Chr17:59079875 [GRCh38]
Chr17:57157236 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.1531-12G>C single nucleotide variant not provided [RCV003573009] Chr17:59047831 [GRCh38]
Chr17:57125192 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.2695+10G>C single nucleotide variant not provided [RCV003544746] Chr17:59012318 [GRCh38]
Chr17:57089679 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.276G>A (p.Lys92=) single nucleotide variant not provided [RCV003879513] Chr17:59088296 [GRCh38]
Chr17:57165657 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.2862C>T (p.Leu954=) single nucleotide variant not provided [RCV003880379] Chr17:58999410 [GRCh38]
Chr17:57076771 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.2727C>T (p.Asp909=) single nucleotide variant not provided [RCV003714776] Chr17:59001683 [GRCh38]
Chr17:57079044 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.1320T>C (p.Leu440=) single nucleotide variant not provided [RCV003713817] Chr17:59049388 [GRCh38]
Chr17:57126749 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.1754-16T>C single nucleotide variant not provided [RCV003826767] Chr17:59032106 [GRCh38]
Chr17:57109467 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.450del (p.Arg151fs) deletion not provided [RCV003716104] Chr17:59081139 [GRCh38]
Chr17:57158500 [GRCh37]
Chr17:17q22		 pathogenic
NM_015294.6(TRIM37):c.537dup (p.Arg180fs) duplication not provided [RCV003545222] Chr17:59079832..59079833 [GRCh38]
Chr17:57157193..57157194 [GRCh37]
Chr17:17q22		 pathogenic
NM_015294.6(TRIM37):c.810-17del deletion not provided [RCV003692861] Chr17:59064422 [GRCh38]
Chr17:57141783 [GRCh37]
Chr17:17q22		 benign
NM_015294.6(TRIM37):c.2577-7del deletion not provided [RCV003661750] Chr17:59012453 [GRCh38]
Chr17:57089814 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.1314+20T>C single nucleotide variant not provided [RCV003692067] Chr17:59051194 [GRCh38]
Chr17:57128555 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.164+15dup duplication not provided [RCV003545426] Chr17:59091284..59091285 [GRCh38]
Chr17:57168645..57168646 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.942+13T>C single nucleotide variant not provided [RCV003875838] Chr17:59062554 [GRCh38]
Chr17:57139915 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.2813-12T>G single nucleotide variant not provided [RCV003544171] Chr17:58999471 [GRCh38]
Chr17:57076832 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.2709C>T (p.Asp903=) single nucleotide variant not provided [RCV003576327] Chr17:59001701 [GRCh38]
Chr17:57079062 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.827dup (p.Tyr276Ter) duplication not provided [RCV003572269] Chr17:59064387..59064388 [GRCh38]
Chr17:57141748..57141749 [GRCh37]
Chr17:17q22		 pathogenic
NM_015294.6(TRIM37):c.2034C>G (p.Leu678=) single nucleotide variant not provided [RCV003688172] Chr17:59028638 [GRCh38]
Chr17:57105999 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.40del (p.Arg14fs) deletion not provided [RCV003877539] Chr17:59104376 [GRCh38]
Chr17:57181737 [GRCh37]
Chr17:17q22		 pathogenic
NM_015294.6(TRIM37):c.2331A>C (p.Ala777=) single nucleotide variant not provided [RCV003575724] Chr17:59017351 [GRCh38]
Chr17:57094712 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.1425T>G (p.Ser475=) single nucleotide variant not provided [RCV003692895] Chr17:59049283 [GRCh38]
Chr17:57126644 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.2576+20A>T single nucleotide variant not provided [RCV003557760] Chr17:59015590 [GRCh38]
Chr17:57092951 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.1579G>T (p.Glu527Ter) single nucleotide variant not provided [RCV003812119] Chr17:59047771 [GRCh38]
Chr17:57125132 [GRCh37]
Chr17:17q22		 pathogenic
NM_015294.6(TRIM37):c.164+16C>T single nucleotide variant not provided [RCV003851319] Chr17:59091284 [GRCh38]
Chr17:57168645 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.411G>A (p.Glu137=) single nucleotide variant not provided [RCV003698674] Chr17:59081178 [GRCh38]
Chr17:57158539 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.1113A>G (p.Glu371=) single nucleotide variant not provided [RCV003698592] Chr17:59056961 [GRCh38]
Chr17:57134322 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.2349T>C (p.Asn783=) single nucleotide variant not provided [RCV003716984] Chr17:59017333 [GRCh38]
Chr17:57094694 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.22-13T>C single nucleotide variant not provided [RCV003834007] Chr17:59104407 [GRCh38]
Chr17:57181768 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.1531-16C>T single nucleotide variant not provided [RCV003663809] Chr17:59047835 [GRCh38]
Chr17:57125196 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.164+8T>C single nucleotide variant not provided [RCV003581029] Chr17:59091292 [GRCh38]
Chr17:57168653 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.809+17A>C single nucleotide variant not provided [RCV003699250] Chr17:59070806 [GRCh38]
Chr17:57148167 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.861-16T>C single nucleotide variant not provided [RCV003810676] Chr17:59062664 [GRCh38]
Chr17:57140025 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.2289A>T (p.Pro763=) single nucleotide variant not provided [RCV003697286] Chr17:59017393 [GRCh38]
Chr17:57094754 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.1314+17T>G single nucleotide variant not provided [RCV003659533] Chr17:59051197 [GRCh38]
Chr17:57128558 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.2541T>C (p.Pro847=) single nucleotide variant not provided [RCV003851858] Chr17:59015645 [GRCh38]
Chr17:57093006 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.2679A>G (p.Ser893=) single nucleotide variant not provided [RCV003726900] Chr17:59012344 [GRCh38]
Chr17:57089705 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.1667+16T>C single nucleotide variant not provided [RCV003834397] Chr17:59047667 [GRCh38]
Chr17:57125028 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.309T>C (p.Ser103=) single nucleotide variant not provided [RCV003726077] Chr17:59084062 [GRCh38]
Chr17:57161423 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.2274dup (p.Asn759Ter) duplication not provided [RCV003852444] Chr17:59017407..59017408 [GRCh38]
Chr17:57094768..57094769 [GRCh37]
Chr17:17q22		 pathogenic
NM_015294.6(TRIM37):c.1749C>T (p.Pro583=) single nucleotide variant not provided [RCV003839656] Chr17:59041817 [GRCh38]
Chr17:57119178 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.1611T>C (p.Ser537=) single nucleotide variant not provided [RCV003669505] Chr17:59047739 [GRCh38]
Chr17:57125100 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.909T>G (p.Val303=) single nucleotide variant not provided [RCV003817552] Chr17:59062600 [GRCh38]
Chr17:57139961 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.1461T>G (p.Thr487=) single nucleotide variant not provided [RCV003549549] Chr17:59049247 [GRCh38]
Chr17:57126608 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.616+18C>T single nucleotide variant not provided [RCV003580273] Chr17:59079736 [GRCh38]
Chr17:57157097 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.2829T>C (p.Phe943=) single nucleotide variant not provided [RCV003659558] Chr17:58999443 [GRCh38]
Chr17:57076804 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.900T>C (p.Pro300=) single nucleotide variant not provided [RCV003717184] Chr17:59062609 [GRCh38]
Chr17:57139970 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.2604A>G (p.Glu868=) single nucleotide variant not provided [RCV003671480] Chr17:59012419 [GRCh38]
Chr17:57089780 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.2331A>G (p.Ala777=) single nucleotide variant not provided [RCV003560318] Chr17:59017351 [GRCh38]
Chr17:57094712 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.351T>A (p.Cys117Ter) single nucleotide variant not provided [RCV003697084] Chr17:59084020 [GRCh38]
Chr17:57161381 [GRCh37]
Chr17:17q22		 pathogenic
NM_015294.6(TRIM37):c.2576+19T>C single nucleotide variant not provided [RCV003717192] Chr17:59015591 [GRCh38]
Chr17:57092952 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.474C>T (p.Ile158=) single nucleotide variant not provided [RCV003725845] Chr17:59081115 [GRCh38]
Chr17:57158476 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.2118T>C (p.Ser706=) single nucleotide variant not provided [RCV003835907] Chr17:59028554 [GRCh38]
Chr17:57105915 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.1531-18T>C single nucleotide variant not provided [RCV003665261] Chr17:59047837 [GRCh38]
Chr17:57125198 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.2883T>C (p.Asn961=) single nucleotide variant not provided [RCV003717798] Chr17:58999389 [GRCh38]
Chr17:57076750 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.860+14A>G single nucleotide variant not provided [RCV003561853] Chr17:59064341 [GRCh38]
Chr17:57141702 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.2511T>A (p.Ala837=) single nucleotide variant not provided [RCV003698118] Chr17:59015675 [GRCh38]
Chr17:57093036 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.609_610dup (p.Leu204fs) microsatellite not provided [RCV003548835] Chr17:59079759..59079760 [GRCh38]
Chr17:57157120..57157121 [GRCh37]
Chr17:17q22		 pathogenic
NM_015294.6(TRIM37):c.1668-10A>G single nucleotide variant not provided [RCV003664292] Chr17:59041908 [GRCh38]
Chr17:57119269 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.2257+19G>A single nucleotide variant not provided [RCV003674140] Chr17:59028396 [GRCh38]
Chr17:57105757 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.2550G>A (p.Glu850=) single nucleotide variant not provided [RCV003702385] Chr17:59015636 [GRCh38]
Chr17:57092997 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.2695+10G>T single nucleotide variant not provided [RCV003724668] Chr17:59012318 [GRCh38]
Chr17:57089679 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.493-15C>T single nucleotide variant not provided [RCV003579749] Chr17:59079892 [GRCh38]
Chr17:57157253 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.165-20T>C single nucleotide variant not provided [RCV003856400] Chr17:59088427 [GRCh38]
Chr17:57165788 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.810-4_810-3dup duplication not provided [RCV003561874] Chr17:59064407..59064408 [GRCh38]
Chr17:57141768..57141769 [GRCh37]
Chr17:17q22		 benign
NM_015294.6(TRIM37):c.1362A>G (p.Ser454=) single nucleotide variant not provided [RCV003723309] Chr17:59049346 [GRCh38]
Chr17:57126707 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.603T>G (p.Leu201=) single nucleotide variant not provided [RCV003579880] Chr17:59079767 [GRCh38]
Chr17:57157128 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.2079G>A (p.Lys693=) single nucleotide variant not provided [RCV003726577] Chr17:59028593 [GRCh38]
Chr17:57105954 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.861-19T>C single nucleotide variant not provided [RCV003670898] Chr17:59062667 [GRCh38]
Chr17:57140028 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.2730T>C (p.Thr910=) single nucleotide variant not provided [RCV003701766] Chr17:59001680 [GRCh38]
Chr17:57079041 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.2835T>C (p.Asp945=) single nucleotide variant not provided [RCV003557976] Chr17:58999437 [GRCh38]
Chr17:57076798 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.486A>G (p.Gln162=) single nucleotide variant not provided [RCV003559425] Chr17:59081103 [GRCh38]
Chr17:57158464 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.1530+20T>C single nucleotide variant not provided [RCV003702669] Chr17:59049158 [GRCh38]
Chr17:57126519 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.124-13T>G single nucleotide variant not provided [RCV003579916] Chr17:59091353 [GRCh38]
Chr17:57168714 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.1949-7del deletion not provided [RCV003669935] Chr17:59028730 [GRCh38]
Chr17:57106091 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.2812+12G>A single nucleotide variant not provided [RCV003673143] Chr17:59001586 [GRCh38]
Chr17:57078947 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.1146C>T (p.Asp382=) single nucleotide variant not provided [RCV003666583] Chr17:59056928 [GRCh38]
Chr17:57134289 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.2813-10T>G single nucleotide variant not provided [RCV003548450] Chr17:58999469 [GRCh38]
Chr17:57076830 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.1949-15T>A single nucleotide variant not provided [RCV003559256] Chr17:59028738 [GRCh38]
Chr17:57106099 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.492+9A>G single nucleotide variant not provided [RCV003703197] Chr17:59081088 [GRCh38]
Chr17:57158449 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.1960C>T (p.Arg654Ter) single nucleotide variant not provided [RCV003724145] Chr17:59028712 [GRCh38]
Chr17:57106073 [GRCh37]
Chr17:17q22		 pathogenic
NM_015294.6(TRIM37):c.1530+13C>G single nucleotide variant not provided [RCV003701412] Chr17:59049165 [GRCh38]
Chr17:57126526 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.2577-15G>A single nucleotide variant not provided [RCV003816152] Chr17:59012461 [GRCh38]
Chr17:57089822 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.2070T>C (p.Thr690=) single nucleotide variant not provided [RCV003669552] Chr17:59028602 [GRCh38]
Chr17:57105963 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.2484G>A (p.Arg828=) single nucleotide variant not provided [RCV003817102] Chr17:59015702 [GRCh38]
Chr17:57093063 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.2576+12T>A single nucleotide variant not provided [RCV003724220] Chr17:59015598 [GRCh38]
Chr17:57092959 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.1948+19T>G single nucleotide variant not provided [RCV003669639] Chr17:59031877 [GRCh38]
Chr17:57109238 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.1199+13A>G single nucleotide variant not provided [RCV003816217] Chr17:59056862 [GRCh38]
Chr17:57134223 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.2580T>C (p.Ala860=) single nucleotide variant not provided [RCV003549852] Chr17:59012443 [GRCh38]
Chr17:57089804 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.617-12A>G single nucleotide variant not provided [RCV003669759] Chr17:59075726 [GRCh38]
Chr17:57153087 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.222A>G (p.Gln74=) single nucleotide variant not provided [RCV003856119] Chr17:59088350 [GRCh38]
Chr17:57165711 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.1020-15_1020-12del deletion not provided [RCV003836022] Chr17:59057066..59057069 [GRCh38]
Chr17:57134427..57134430 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.1020-14T>G single nucleotide variant not provided [RCV003580489] Chr17:59057068 [GRCh38]
Chr17:57134429 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.282-4A>G single nucleotide variant not provided [RCV003811233] Chr17:59084093 [GRCh38]
Chr17:57161454 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.531G>A (p.Glu177=) single nucleotide variant not provided [RCV003672134] Chr17:59079839 [GRCh38]
Chr17:57157200 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.102G>A (p.Leu34=) single nucleotide variant not provided [RCV003559753] Chr17:59104314 [GRCh38]
Chr17:57181675 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.1530+20del deletion not provided [RCV003703384] Chr17:59049158 [GRCh38]
Chr17:57126519 [GRCh37]
Chr17:17q22		 benign
NM_015294.6(TRIM37):c.2010T>C (p.Ser670=) single nucleotide variant not provided [RCV003840246] Chr17:59028662 [GRCh38]
Chr17:57106023 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.600G>A (p.Lys200=) single nucleotide variant not provided [RCV003559407] Chr17:59079770 [GRCh38]
Chr17:57157131 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.1020-16T>C single nucleotide variant not provided [RCV003702270] Chr17:59057070 [GRCh38]
Chr17:57134431 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.1667+2T>G single nucleotide variant not provided [RCV003697703] Chr17:59047681 [GRCh38]
Chr17:57125042 [GRCh37]
Chr17:17q22		 likely pathogenic
NM_015294.6(TRIM37):c.1667+8T>G single nucleotide variant not provided [RCV003740435] Chr17:59047675 [GRCh38]
Chr17:57125036 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.617-3C>G single nucleotide variant not provided [RCV003835332] Chr17:59075717 [GRCh38]
Chr17:57153078 [GRCh37]
Chr17:17q22		 uncertain significance
NM_015294.6(TRIM37):c.860+18T>G single nucleotide variant not provided [RCV003559873] Chr17:59064337 [GRCh38]
Chr17:57141698 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.2805G>C (p.Pro935=) single nucleotide variant not provided [RCV003854255] Chr17:59001605 [GRCh38]
Chr17:57078966 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.2258-8C>T single nucleotide variant not provided [RCV003717181] Chr17:59017432 [GRCh38]
Chr17:57094793 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.660C>T (p.Ser220=) single nucleotide variant not provided [RCV003700477] Chr17:59075671 [GRCh38]
Chr17:57153032 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.684+9A>G single nucleotide variant not provided [RCV003672251] Chr17:59075638 [GRCh38]
Chr17:57152999 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.685-17T>A single nucleotide variant not provided [RCV003702330] Chr17:59070964 [GRCh38]
Chr17:57148325 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.22-19C>T single nucleotide variant not provided [RCV003833677] Chr17:59104413 [GRCh38]
Chr17:57181774 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.1531-13G>C single nucleotide variant not provided [RCV003672619] Chr17:59047832 [GRCh38]
Chr17:57125193 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.2763G>A (p.Val921=) single nucleotide variant not provided [RCV003548891] Chr17:59001647 [GRCh38]
Chr17:57079008 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.2671G>T (p.Gly891Ter) single nucleotide variant not provided [RCV003699302] Chr17:59012352 [GRCh38]
Chr17:57089713 [GRCh37]
Chr17:17q22		 pathogenic
NM_015294.6(TRIM37):c.2874A>G (p.Thr958=) single nucleotide variant not provided [RCV003667873] Chr17:58999398 [GRCh38]
Chr17:57076759 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.1176A>G (p.Pro392=) single nucleotide variant not provided [RCV003558861] Chr17:59056898 [GRCh38]
Chr17:57134259 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.468del (p.Glu156fs) deletion not provided [RCV003723971] Chr17:59081121 [GRCh38]
Chr17:57158482 [GRCh37]
Chr17:17q22		 pathogenic
NM_015294.6(TRIM37):c.2307A>G (p.Ala769=) single nucleotide variant not provided [RCV003558216] Chr17:59017375 [GRCh38]
Chr17:57094736 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.616+15A>G single nucleotide variant not provided [RCV003664201] Chr17:59079739 [GRCh38]
Chr17:57157100 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.282-6G>A single nucleotide variant not provided [RCV003566572] Chr17:59084095 [GRCh38]
Chr17:57161456 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.123+10A>G single nucleotide variant not provided [RCV003822885] Chr17:59104283 [GRCh38]
Chr17:57181644 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.423T>C (p.Thr141=) single nucleotide variant not provided [RCV003734432] Chr17:59081166 [GRCh38]
Chr17:57158527 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.370-11A>G single nucleotide variant not provided [RCV003711878] Chr17:59081230 [GRCh38]
Chr17:57158591 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.2577-15G>T single nucleotide variant not provided [RCV003844328] Chr17:59012461 [GRCh38]
Chr17:57089822 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.522A>T (p.Ala174=) single nucleotide variant not provided [RCV003709013] Chr17:59079848 [GRCh38]
Chr17:57157209 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.1053C>T (p.Ser351=) single nucleotide variant not provided [RCV003553192] Chr17:59057021 [GRCh38]
Chr17:57134382 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.474C>A (p.Ile158=) single nucleotide variant not provided [RCV003857758] Chr17:59081115 [GRCh38]
Chr17:57158476 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.617-16C>G single nucleotide variant not provided [RCV003732505] Chr17:59075730 [GRCh38]
Chr17:57153091 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.281+12A>G single nucleotide variant not provided [RCV003730750] Chr17:59088279 [GRCh38]
Chr17:57165640 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.22-12del deletion not provided [RCV003553123] Chr17:59104406 [GRCh38]
Chr17:57181767 [GRCh37]
Chr17:17q22		 benign
NM_015294.6(TRIM37):c.164+19T>G single nucleotide variant not provided [RCV003823308] Chr17:59091281 [GRCh38]
Chr17:57168642 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.2576+11T>C single nucleotide variant not provided [RCV003729824] Chr17:59015599 [GRCh38]
Chr17:57092960 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.2652dup (p.Gln885fs) duplication not provided [RCV003732812] Chr17:59012370..59012371 [GRCh38]
Chr17:57089731..57089732 [GRCh37]
Chr17:17q22		 pathogenic
NM_015294.6(TRIM37):c.2387-11T>G single nucleotide variant not provided [RCV003675553] Chr17:59015810 [GRCh38]
Chr17:57093171 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.413_417dup (p.Val140fs) duplication not provided [RCV003565111] Chr17:59081171..59081172 [GRCh38]
Chr17:57158532..57158533 [GRCh37]
Chr17:17q22		 pathogenic
NM_015294.6(TRIM37):c.657A>G (p.Glu219=) single nucleotide variant not provided [RCV003566224] Chr17:59075674 [GRCh38]
Chr17:57153035 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.2310T>C (p.Gly770=) single nucleotide variant not provided [RCV003566999] Chr17:59017372 [GRCh38]
Chr17:57094733 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.2576+18G>A single nucleotide variant not provided [RCV003860358] Chr17:59015592 [GRCh38]
Chr17:57092953 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.1239G>T (p.Arg413=) single nucleotide variant not provided [RCV003731195] Chr17:59051289 [GRCh38]
Chr17:57128650 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.1314+12T>C single nucleotide variant not provided [RCV003841535] Chr17:59051202 [GRCh38]
Chr17:57128563 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.2608C>T (p.Leu870=) single nucleotide variant not provided [RCV003550530] Chr17:59012415 [GRCh38]
Chr17:57089776 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.78C>T (p.Arg26=) single nucleotide variant not provided [RCV003736075] Chr17:59104338 [GRCh38]
Chr17:57181699 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.1101T>C (p.Phe367=) single nucleotide variant not provided [RCV003555701] Chr17:59056973 [GRCh38]
Chr17:57134334 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.164+12C>T single nucleotide variant not provided [RCV003736217] Chr17:59091288 [GRCh38]
Chr17:57168649 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.124-14T>G single nucleotide variant not provided [RCV003563028] Chr17:59091354 [GRCh38]
Chr17:57168715 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.1524T>C (p.Asp508=) single nucleotide variant not provided [RCV003711682] Chr17:59049184 [GRCh38]
Chr17:57126545 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.588G>A (p.Gln196=) single nucleotide variant not provided [RCV003731924] Chr17:59079782 [GRCh38]
Chr17:57157143 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.2387-10T>C single nucleotide variant not provided [RCV003555805] Chr17:59015809 [GRCh38]
Chr17:57093170 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.1531-17T>C single nucleotide variant not provided [RCV003735727] Chr17:59047836 [GRCh38]
Chr17:57125197 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.216A>G (p.Val72=) single nucleotide variant not provided [RCV003866042] Chr17:59088356 [GRCh38]
Chr17:57165717 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.164+1G>A single nucleotide variant not provided [RCV003860328] Chr17:59091299 [GRCh38]
Chr17:57168660 [GRCh37]
Chr17:17q22		 likely pathogenic
NM_015294.6(TRIM37):c.2323C>T (p.Arg775Ter) single nucleotide variant not provided [RCV003729486] Chr17:59017359 [GRCh38]
Chr17:57094720 [GRCh37]
Chr17:17q22		 pathogenic
NM_015294.6(TRIM37):c.243C>T (p.Leu81=) single nucleotide variant not provided [RCV003706492] Chr17:59088329 [GRCh38]
Chr17:57165690 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.2202T>C (p.Asp734=) single nucleotide variant not provided [RCV003726977] Chr17:59028470 [GRCh38]
Chr17:57105831 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.165-9T>C single nucleotide variant not provided [RCV003859509] Chr17:59088416 [GRCh38]
Chr17:57165777 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.1464A>G (p.Thr488=) single nucleotide variant not provided [RCV003564738] Chr17:59049244 [GRCh38]
Chr17:57126605 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.2461dup (p.Ile821fs) duplication not provided [RCV003734679] Chr17:59015724..59015725 [GRCh38]
Chr17:57093085..57093086 [GRCh37]
Chr17:17q22		 pathogenic
NM_015294.6(TRIM37):c.2802C>A (p.Pro934=) single nucleotide variant not provided [RCV003858006] Chr17:59001608 [GRCh38]
Chr17:57078969 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.1345A>T (p.Lys449Ter) single nucleotide variant not provided [RCV003551581] Chr17:59049363 [GRCh38]
Chr17:57126724 [GRCh37]
Chr17:17q22		 pathogenic
NM_015294.6(TRIM37):c.685-7C>T single nucleotide variant not provided [RCV003737404] Chr17:59070954 [GRCh38]
Chr17:57148315 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.2257+15C>A single nucleotide variant not provided [RCV003731066] Chr17:59028400 [GRCh38]
Chr17:57105761 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.282-13del deletion not provided [RCV003847061] Chr17:59084102 [GRCh38]
Chr17:57161463 [GRCh37]
Chr17:17q22		 benign
NM_015294.6(TRIM37):c.2601G>A (p.Leu867=) single nucleotide variant not provided [RCV003729765] Chr17:59012422 [GRCh38]
Chr17:57089783 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.1194T>C (p.Ile398=) single nucleotide variant not provided [RCV003553739] Chr17:59056880 [GRCh38]
Chr17:57134241 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.1020-15G>C single nucleotide variant not provided [RCV003737405] Chr17:59057069 [GRCh38]
Chr17:57134430 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.1209A>T (p.Val403=) single nucleotide variant not provided [RCV003704133] Chr17:59051319 [GRCh38]
Chr17:57128680 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.1638A>G (p.Thr546=) single nucleotide variant not provided [RCV003867919] Chr17:59047712 [GRCh38]
Chr17:57125073 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.1531-20T>C single nucleotide variant not provided [RCV003735939] Chr17:59047839 [GRCh38]
Chr17:57125200 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.1128T>C (p.Asn376=) single nucleotide variant not provided [RCV003557548] Chr17:59056946 [GRCh38]
Chr17:57134307 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.1020-4T>G single nucleotide variant not provided [RCV003721316] Chr17:59057058 [GRCh38]
Chr17:57134419 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.165-9dup duplication not provided [RCV003721337] Chr17:59088415..59088416 [GRCh38]
Chr17:57165776..57165777 [GRCh37]
Chr17:17q22		 benign
NM_015294.6(TRIM37):c.1168T>C (p.Leu390=) single nucleotide variant not provided [RCV003871795] Chr17:59056906 [GRCh38]
Chr17:57134267 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.426A>G (p.Lys142=) single nucleotide variant not provided [RCV003841230] Chr17:59081163 [GRCh38]
Chr17:57158524 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.370-16A>C single nucleotide variant not provided [RCV003684568] Chr17:59081235 [GRCh38]
Chr17:57158596 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.2258-9T>C single nucleotide variant not provided [RCV003721688] Chr17:59017433 [GRCh38]
Chr17:57094794 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.1207dup (p.Val403fs) duplication not provided [RCV003542110] Chr17:59051320..59051321 [GRCh38]
Chr17:57128681..57128682 [GRCh37]
Chr17:17q22		 pathogenic
NM_015294.6(TRIM37):c.819G>T (p.Val273=) single nucleotide variant not provided [RCV003737858] Chr17:59064396 [GRCh38]
Chr17:57141757 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.693T>C (p.Ser231=) single nucleotide variant not provided [RCV003683748] Chr17:59070939 [GRCh38]
Chr17:57148300 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.354A>C (p.Ala118=) single nucleotide variant not provided [RCV003718989] Chr17:59084017 [GRCh38]
Chr17:57161378 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.2034C>T (p.Leu678=) single nucleotide variant not provided [RCV003680362] Chr17:59028638 [GRCh38]
Chr17:57105999 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.1315-19G>A single nucleotide variant not provided [RCV003859599] Chr17:59049412 [GRCh38]
Chr17:57126773 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.2812+16T>C single nucleotide variant not provided [RCV003678566] Chr17:59001582 [GRCh38]
Chr17:57078943 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.2076A>G (p.Val692=) single nucleotide variant not provided [RCV003719327] Chr17:59028596 [GRCh38]
Chr17:57105957 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.124-8C>A single nucleotide variant not provided [RCV003722989] Chr17:59091348 [GRCh38]
Chr17:57168709 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.480A>G (p.Leu160=) single nucleotide variant not provided [RCV003684190] Chr17:59081109 [GRCh38]
Chr17:57158470 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.860+12T>C single nucleotide variant not provided [RCV003870003] Chr17:59064343 [GRCh38]
Chr17:57141704 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.2517G>T (p.Val839=) single nucleotide variant not provided [RCV003869634] Chr17:59015669 [GRCh38]
Chr17:57093030 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.2696-16_2696-14del deletion not provided [RCV003821156] Chr17:59001728..59001730 [GRCh38]
Chr17:57079089..57079091 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.1116C>T (p.Cys372=) single nucleotide variant TRIM37-related disorder [RCV003893345]|not provided [RCV003738586] Chr17:59056958 [GRCh38]
Chr17:57134319 [GRCh37]
Chr17:17q22		 benign|likely benign
NM_015294.6(TRIM37):c.2433A>C (p.Arg811=) single nucleotide variant not provided [RCV003737442] Chr17:59015753 [GRCh38]
Chr17:57093114 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.519T>C (p.Asn173=) single nucleotide variant not provided [RCV003719481] Chr17:59079851 [GRCh38]
Chr17:57157212 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.2813-4A>G single nucleotide variant not provided [RCV003684359] Chr17:58999463 [GRCh38]
Chr17:57076824 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.2695+20T>G single nucleotide variant not provided [RCV003870306] Chr17:59012308 [GRCh38]
Chr17:57089669 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.124-6C>T single nucleotide variant not provided [RCV003870448] Chr17:59091346 [GRCh38]
Chr17:57168707 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.2577-9T>C single nucleotide variant not provided [RCV003735932] Chr17:59012455 [GRCh38]
Chr17:57089816 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.943-7del deletion not provided [RCV003722180] Chr17:59061115 [GRCh38]
Chr17:57138476 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.1110A>C (p.Gly370=) single nucleotide variant not provided [RCV003864339] Chr17:59056964 [GRCh38]
Chr17:57134325 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.462C>G (p.Leu154=) single nucleotide variant not provided [RCV003685541] Chr17:59081127 [GRCh38]
Chr17:57158488 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.993C>G (p.Leu331=) single nucleotide variant not provided [RCV003823462] Chr17:59061058 [GRCh38]
Chr17:57138419 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.1199+14T>A single nucleotide variant not provided [RCV003868978] Chr17:59056861 [GRCh38]
Chr17:57134222 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.48C>T (p.Phe16=) single nucleotide variant not provided [RCV003707100] Chr17:59104368 [GRCh38]
Chr17:57181729 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.943-11T>A single nucleotide variant not provided [RCV003552935] Chr17:59061119 [GRCh38]
Chr17:57138480 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.1199+7G>A single nucleotide variant not provided [RCV003568285] Chr17:59056868 [GRCh38]
Chr17:57134229 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.2695+20T>C single nucleotide variant not provided [RCV003734836] Chr17:59012308 [GRCh38]
Chr17:57089669 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.591G>A (p.Leu197=) single nucleotide variant not provided [RCV003865683] Chr17:59079779 [GRCh38]
Chr17:57157140 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.1314+11A>G single nucleotide variant not provided [RCV003707347] Chr17:59051203 [GRCh38]
Chr17:57128564 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.492+1G>T single nucleotide variant not provided [RCV003552539] Chr17:59081096 [GRCh38]
Chr17:57158457 [GRCh37]
Chr17:17q22		 likely pathogenic
NM_015294.6(TRIM37):c.1949-14C>T single nucleotide variant not provided [RCV003865733] Chr17:59028737 [GRCh38]
Chr17:57106098 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.1949-18T>G single nucleotide variant not provided [RCV003553066] Chr17:59028741 [GRCh38]
Chr17:57106102 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.1479G>A (p.Glu493=) single nucleotide variant not provided [RCV003567265] Chr17:59049229 [GRCh38]
Chr17:57126590 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.492+7C>A single nucleotide variant not provided [RCV003866787] Chr17:59081090 [GRCh38]
Chr17:57158451 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.2029dup (p.Arg677fs) duplication not provided [RCV003556948] Chr17:59028642..59028643 [GRCh38]
Chr17:57106003..57106004 [GRCh37]
Chr17:17q22		 pathogenic
NM_015294.6(TRIM37):c.807C>T (p.Thr269=) single nucleotide variant not provided [RCV003823642] Chr17:59070825 [GRCh38]
Chr17:57148186 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.1533C>T (p.His511=) single nucleotide variant not provided [RCV003568838] Chr17:59047817 [GRCh38]
Chr17:57125178 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.493-4C>G single nucleotide variant not provided [RCV003860584] Chr17:59079881 [GRCh38]
Chr17:57157242 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.1593C>T (p.Leu531=) single nucleotide variant not provided [RCV003729310] Chr17:59047757 [GRCh38]
Chr17:57125118 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.369+19G>A single nucleotide variant not provided [RCV003735647] Chr17:59083983 [GRCh38]
Chr17:57161344 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.1753+9G>A single nucleotide variant not provided [RCV003819530] Chr17:59041804 [GRCh38]
Chr17:57119165 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.1199+12A>C single nucleotide variant not provided [RCV003840707] Chr17:59056863 [GRCh38]
Chr17:57134224 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.2695+9T>G single nucleotide variant not provided [RCV003682891] Chr17:59012319 [GRCh38]
Chr17:57089680 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.2813-5_2813-3del deletion not provided [RCV003679814] Chr17:58999462..58999464 [GRCh38]
Chr17:57076823..57076825 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.1692T>C (p.Tyr564=) single nucleotide variant not provided [RCV003565852] Chr17:59041874 [GRCh38]
Chr17:57119235 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.1671T>G (p.Ser557=) single nucleotide variant not provided [RCV003562347] Chr17:59041895 [GRCh38]
Chr17:57119256 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.147T>C (p.Ala49=) single nucleotide variant not provided [RCV003866117] Chr17:59091317 [GRCh38]
Chr17:57168678 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.1959T>G (p.Ser653=) single nucleotide variant not provided [RCV003680109] Chr17:59028713 [GRCh38]
Chr17:57106074 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.1668-12G>A single nucleotide variant not provided [RCV003705299] Chr17:59041910 [GRCh38]
Chr17:57119271 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.2454C>T (p.Ile818=) single nucleotide variant not provided [RCV003732796] Chr17:59015732 [GRCh38]
Chr17:57093093 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.1668-8A>G single nucleotide variant not provided [RCV003863213] Chr17:59041906 [GRCh38]
Chr17:57119267 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.1754-4G>T single nucleotide variant not provided [RCV003734206] Chr17:59032094 [GRCh38]
Chr17:57109455 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.150A>G (p.Gln50=) single nucleotide variant not provided [RCV003728873] Chr17:59091314 [GRCh38]
Chr17:57168675 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.2688T>C (p.Pro896=) single nucleotide variant not provided [RCV003552297] Chr17:59012335 [GRCh38]
Chr17:57089696 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.216A>T (p.Val72=) single nucleotide variant not provided [RCV003678540] Chr17:59088356 [GRCh38]
Chr17:57165717 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.1314+17T>A single nucleotide variant not provided [RCV003556618] Chr17:59051197 [GRCh38]
Chr17:57128558 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.1887C>T (p.Ser629=) single nucleotide variant not provided [RCV003550637] Chr17:59031957 [GRCh38]
Chr17:57109318 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.2813-20T>A single nucleotide variant not provided [RCV003554090] Chr17:58999479 [GRCh38]
Chr17:57076840 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.370-13C>T single nucleotide variant not provided [RCV003857587] Chr17:59081232 [GRCh38]
Chr17:57158593 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.1083A>C (p.Arg361=) single nucleotide variant not provided [RCV003565363] Chr17:59056991 [GRCh38]
Chr17:57134352 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.2143dup (p.Ser715fs) duplication not provided [RCV003861377] Chr17:59028528..59028529 [GRCh38]
Chr17:57105889..57105890 [GRCh37]
Chr17:17q22		 pathogenic
NM_015294.6(TRIM37):c.1754-9C>G single nucleotide variant not provided [RCV003731580] Chr17:59032099 [GRCh38]
Chr17:57109460 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.1864T>C (p.Leu622=) single nucleotide variant not provided [RCV003705937] Chr17:59031980 [GRCh38]
Chr17:57109341 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.636C>G (p.Thr212=) single nucleotide variant not provided [RCV003678923] Chr17:59075695 [GRCh38]
Chr17:57153056 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.1336C>T (p.Arg446Ter) single nucleotide variant not provided [RCV003731672] Chr17:59049372 [GRCh38]
Chr17:57126733 [GRCh37]
Chr17:17q22		 pathogenic
NM_015294.6(TRIM37):c.252C>T (p.Leu84=) single nucleotide variant not provided [RCV003734458] Chr17:59088320 [GRCh38]
Chr17:57165681 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.209AAG[1] (p.Glu71del) microsatellite TRIM37-related disorder [RCV003957020] Chr17:59088358..59088360 [GRCh38]
Chr17:57165719..57165721 [GRCh37]
Chr17:17q22		 uncertain significance
NM_014906.5(PPM1E):c.1492A>G (p.Ser498Gly) single nucleotide variant not specified [RCV004507168] Chr17:58980255 [GRCh38]
Chr17:57057616 [GRCh37]
Chr17:17q22		 uncertain significance
NM_014906.5(PPM1E):c.1892A>G (p.Asn631Ser) single nucleotide variant not specified [RCV004507169] Chr17:58980655 [GRCh38]
Chr17:57058016 [GRCh37]
Chr17:17q22		 uncertain significance
NM_015294.6(TRIM37):c.1315-3A>G single nucleotide variant Mulibrey nanism syndrome [RCV004577151] Chr17:59049396 [GRCh38]
Chr17:57126757 [GRCh37]
Chr17:17q22		 uncertain significance
NM_015294.6(TRIM37):c.2492A>G (p.Lys831Arg) single nucleotide variant Inborn genetic diseases [RCV004473831] Chr17:59015694 [GRCh38]
Chr17:57093055 [GRCh37]
Chr17:17q22		 uncertain significance
NM_014906.5(PPM1E):c.2068T>C (p.Phe690Leu) single nucleotide variant not specified [RCV004507170] Chr17:58980831 [GRCh38]
Chr17:57058192 [GRCh37]
Chr17:17q22		 uncertain significance
NM_014906.5(PPM1E):c.2126G>A (p.Gly709Glu) single nucleotide variant not specified [RCV004507171] Chr17:58980889 [GRCh38]
Chr17:57058250 [GRCh37]
Chr17:17q22		 uncertain significance
NM_015294.6(TRIM37):c.1177C>G (p.Gln393Glu) single nucleotide variant Inborn genetic diseases [RCV004473828] Chr17:59056897 [GRCh38]
Chr17:57134258 [GRCh37]
Chr17:17q22		 uncertain significance
NM_015294.6(TRIM37):c.1655A>T (p.Asp552Val) single nucleotide variant Inborn genetic diseases [RCV004473829] Chr17:59047695 [GRCh38]
Chr17:57125056 [GRCh37]
Chr17:17q22		 uncertain significance
NM_015294.6(TRIM37):c.205G>T (p.Ala69Ser) single nucleotide variant Inborn genetic diseases [RCV004473830] Chr17:59088367 [GRCh38]
Chr17:57165728 [GRCh37]
Chr17:17q22		 uncertain significance
NM_015294.6(TRIM37):c.1349C>G (p.Ser450Ter) single nucleotide variant Mulibrey nanism syndrome [RCV004573759] Chr17:59049359 [GRCh38]
Chr17:57126720 [GRCh37]
Chr17:17q22		 likely pathogenic
NC_000017.10:g.(?_57092951)_(57093180_?)del deletion not provided [RCV004581424] Chr17:57092951..57093180 [GRCh37]
Chr17:17q22		 pathogenic
NC_000017.10:g.(?_57161343)_(57161470_?)del deletion not provided [RCV004581426] Chr17:57161343..57161470 [GRCh37]
Chr17:17q22		 pathogenic
NC_000017.10:g.(?_57148164)_(57148328_?)del deletion not provided [RCV004581427] Chr17:57148164..57148328 [GRCh37]
Chr17:17q22		 pathogenic
NC_000017.10:g.(?_57138373)_(57168721_?)del deletion not provided [RCV004581428] Chr17:57138373..57168721 [GRCh37]
Chr17:17q22		 pathogenic
NC_000017.10:g.(?_57092951)_(57094805_?)dup duplication not provided [RCV004581429] Chr17:57092951..57094805 [GRCh37]
Chr17:17q22		 likely pathogenic
NM_015294.6(TRIM37):c.2395G>T (p.Gly799Ter) single nucleotide variant Mulibrey nanism syndrome [RCV004573754] Chr17:59015791 [GRCh38]
Chr17:57093152 [GRCh37]
Chr17:17q22		 likely pathogenic
NM_015294.6(TRIM37):c.1250G>A (p.Trp417Ter) single nucleotide variant Mulibrey nanism syndrome [RCV004573763] Chr17:59051278 [GRCh38]
Chr17:57128639 [GRCh37]
Chr17:17q22		 likely pathogenic
NM_015294.6(TRIM37):c.1020-1G>T single nucleotide variant Mulibrey nanism syndrome [RCV004573762] Chr17:59057055 [GRCh38]
Chr17:57134416 [GRCh37]
Chr17:17q22		 likely pathogenic
NM_015294.6(TRIM37):c.616+1G>A single nucleotide variant Mulibrey nanism syndrome [RCV004573752] Chr17:59079753 [GRCh38]
Chr17:57157114 [GRCh37]
Chr17:17q22		 likely pathogenic
NM_015294.6(TRIM37):c.2695+1G>A single nucleotide variant Mulibrey nanism syndrome [RCV004573755] Chr17:59012327 [GRCh38]
Chr17:57089688 [GRCh37]
Chr17:17q22		 likely pathogenic
NM_015294.6(TRIM37):c.2186_2187del (p.Ser729fs) microsatellite Mulibrey nanism syndrome [RCV004573757] Chr17:59028485..59028486 [GRCh38]
Chr17:57105846..57105847 [GRCh37]
Chr17:17q22		 likely pathogenic
NM_015294.6(TRIM37):c.1298_1301del (p.Ile433fs) deletion Mulibrey nanism syndrome [RCV004573758] Chr17:59051227..59051230 [GRCh38]
Chr17:57128588..57128591 [GRCh37]
Chr17:17q22		 likely pathogenic
NM_015294.6(TRIM37):c.1939C>T (p.Gln647Ter) single nucleotide variant Mulibrey nanism syndrome [RCV004573761] Chr17:59031905 [GRCh38]
Chr17:57109266 [GRCh37]
Chr17:17q22		 likely pathogenic
NM_015294.6(TRIM37):c.1686_1692dup (p.Asn565delinsGlyIleTer) duplication Mulibrey nanism syndrome [RCV004573764] Chr17:59041873..59041874 [GRCh38]
Chr17:57119234..57119235 [GRCh37]
Chr17:17q22		 likely pathogenic
NM_015294.6(TRIM37):c.336T>G (p.Cys112Trp) single nucleotide variant Inborn genetic diseases [RCV004684662] Chr17:59084035 [GRCh38]
Chr17:57161396 [GRCh37]
Chr17:17q22		 uncertain significance
NM_015294.6(TRIM37):c.643del (p.Thr215fs) deletion Mulibrey nanism syndrome [RCV004573760] Chr17:59075688 [GRCh38]
Chr17:57153049 [GRCh37]
Chr17:17q22		 likely pathogenic
NM_015294.6(TRIM37):c.1620del (p.Thr541fs) deletion Mulibrey nanism syndrome [RCV004573753] Chr17:59047730 [GRCh38]
Chr17:57125091 [GRCh37]
Chr17:17q22		 pathogenic
NM_015294.6(TRIM37):c.2576+1G>A single nucleotide variant Mulibrey nanism syndrome [RCV004573756] Chr17:59015609 [GRCh38]
Chr17:57092970 [GRCh37]
Chr17:17q22		 likely pathogenic
NM_015294.6(TRIM37):c.1965del (p.Asp656fs) deletion Mulibrey nanism syndrome [RCV004573765] Chr17:59028707 [GRCh38]
Chr17:57106068 [GRCh37]
Chr17:17q22		 likely pathogenic
NM_015294.6(TRIM37):c.2246A>C (p.Tyr749Ser) single nucleotide variant TRIM37-related disorder [RCV004731372] Chr17:59028426 [GRCh38]
Chr17:57105787 [GRCh37]
Chr17:17q22		 uncertain significance
NM_015294.6(TRIM37):c.2031A>G (p.Arg677=) single nucleotide variant not provided [RCV003872047] Chr17:59028641 [GRCh38]
Chr17:57106002 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.616+14_616+17del microsatellite not provided [RCV003069188] Chr17:59079737..59079740 [GRCh38]
Chr17:57157098..57157101 [GRCh37]
Chr17:17q22		 likely benign
NM_015294.6(TRIM37):c.414A>G (p.Gln138=) single nucleotide variant not provided [RCV003682853] Chr17:59081175 [GRCh38]
Chr17:57158536 [GRCh37]
Chr17:17q22		 likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3439
Count of miRNA genes:1073
Interacting mature miRNAs:1308
Transcripts:ENST00000262294, ENST00000376149, ENST00000393065, ENST00000393066, ENST00000577554, ENST00000580122, ENST00000580620, ENST00000580973, ENST00000581468, ENST00000582852, ENST00000583387, ENST00000583945, ENST00000584889, ENST00000585287
Prediction methods:Microtar, Miranda, Pita, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
407293845GWAS942821_Hbody height QTL GWAS942821 (human)3e-16body height (VT:0001253)body height (CMO:0000106)175905306659053067Human
407164049GWAS813025_HFEV/FVC ratio, response to bronchodilator QTL GWAS813025 (human)0.000001FEV/FVC ratio, response to bronchodilatorforced expiratory volume to forced vital capacity ratio (CMO:0000241)175898327258983273Human
407195363GWAS844339_Hunipolar depression, information processing speed, cognitive function measurement QTL GWAS844339 (human)0.000005unipolar depression, information processing speed, cognitive function measurement175908119159081192Human
406938539GWAS587515_Hintelligence QTL GWAS587515 (human)2e-14intelligence175901785159017852Human
407035737GWAS684713_Hcognitive function measurement, self reported educational attainment QTL GWAS684713 (human)1e-09cognitive function measurement175901785159017852Human
407100862GWAS749838_Hchronotype measurement QTL GWAS749838 (human)1e-08chronotype measurement175903390859033909Human
407195851GWAS844827_Hunipolar depression, information processing speed, cognitive function measurement QTL GWAS844827 (human)7e-09unipolar depression, information processing speed, cognitive function measurement175908119159081192Human

Markers in Region
G20499  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371757,075,607 - 57,075,766UniSTSGRCh37
Build 361754,430,389 - 54,430,548RGDNCBI36
Celera1753,537,947 - 53,538,106RGD
Cytogenetic Map17q23.2UniSTS
HuRef1752,436,098 - 52,436,257UniSTS
A005U07  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371757,075,607 - 57,075,766UniSTSGRCh37
Build 361754,430,389 - 54,430,548RGDNCBI36
Celera1753,537,947 - 53,538,106RGD
Cytogenetic Map17q23.2UniSTS
HuRef1752,436,098 - 52,436,257UniSTS
GeneMap99-GB4 RH Map17375.41UniSTS
A009B30  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371757,076,955 - 57,077,055UniSTSGRCh37
Build 361754,431,737 - 54,431,837RGDNCBI36
Celera1753,539,295 - 53,539,395RGD
Cytogenetic Map17q23.2UniSTS
HuRef1752,437,446 - 52,437,546UniSTS
GeneMap99-GB4 RH Map17375.41UniSTS
NCBI RH Map17665.5UniSTS
WI-15527  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371757,062,407 - 57,062,506UniSTSGRCh37
Build 361754,417,189 - 54,417,288RGDNCBI36
Celera1753,524,753 - 53,524,852RGD
Cytogenetic Map17q22UniSTS
Cytogenetic Map17q23.2UniSTS
HuRef1752,422,903 - 52,423,002UniSTS
GeneMap99-GB4 RH Map17374.97UniSTS
Whitehead-RH Map17436.6UniSTS
RH11893  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371757,060,109 - 57,060,325UniSTSGRCh37
Build 361754,414,891 - 54,415,107RGDNCBI36
Celera1753,522,455 - 53,522,671RGD
Cytogenetic Map17q22UniSTS
Cytogenetic Map17q23.2UniSTS
HuRef1752,420,605 - 52,420,821UniSTS
GeneMap99-GB4 RH Map17375.41UniSTS
RH91179  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371757,075,634 - 57,075,823UniSTSGRCh37
Build 361754,430,416 - 54,430,605RGDNCBI36
Celera1753,537,974 - 53,538,163RGD
Cytogenetic Map17q23.2UniSTS
HuRef1752,436,125 - 52,436,314UniSTS
GeneMap99-GB4 RH Map17375.41UniSTS
G42202  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371757,140,837 - 57,140,945UniSTSGRCh37
Build 361754,495,619 - 54,495,727RGDNCBI36
Celera1753,603,215 - 53,603,323RGD
Cytogenetic Map17q23.2UniSTS
HuRef1752,501,472 - 52,501,580UniSTS
G42207  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371757,140,432 - 57,140,529UniSTSGRCh37
Build 361754,495,214 - 54,495,311RGDNCBI36
Celera1753,602,810 - 53,602,907RGD
Cytogenetic Map17q23.2UniSTS
HuRef1752,501,067 - 52,501,164UniSTS
G42231  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371757,080,044 - 57,080,173UniSTSGRCh37
Build 361754,434,826 - 54,434,955RGDNCBI36
Celera1753,542,384 - 53,542,513RGD
Cytogenetic Map17q23.2UniSTS
HuRef1752,440,535 - 52,440,664UniSTS
D17S1389E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371757,062,266 - 57,062,365UniSTSGRCh37
Build 361754,417,048 - 54,417,147RGDNCBI36
Celera1753,524,612 - 53,524,711RGD
Cytogenetic Map17q22UniSTS
Cytogenetic Map17q23.2UniSTS
HuRef1752,422,762 - 52,422,861UniSTS
D17S1449E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371757,076,688 - 57,076,802UniSTSGRCh37
Build 361754,431,470 - 54,431,584RGDNCBI36
Celera1753,539,028 - 53,539,142RGD
Cytogenetic Map17q23.2UniSTS
HuRef1752,437,179 - 52,437,293UniSTS
GDB:314385  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371757,089,562 - 57,089,919UniSTSGRCh37
Build 361754,444,344 - 54,444,701RGDNCBI36
Celera1753,551,907 - 53,552,271RGD
Cytogenetic Map17q23.2UniSTS
HuRef1752,449,991 - 52,450,348UniSTS
PMC310730P3  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371757,113,758 - 57,113,881UniSTSGRCh37
Build 361754,468,540 - 54,468,663RGDNCBI36
Celera1753,576,108 - 53,576,233RGD
Cytogenetic Map17q23.2UniSTS
HuRef519,112,115 - 19,113,192UniSTS
HuRef1752,474,549 - 52,474,674UniSTS
D17S1670  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371757,075,591 - 57,075,841UniSTSGRCh37
Build 361754,430,373 - 54,430,623RGDNCBI36
Celera1753,537,931 - 53,538,181RGD
Cytogenetic Map17q23.2UniSTS
HuRef1752,436,082 - 52,436,332UniSTS
Whitehead-YAC Contig Map17 UniSTS
WI-18603  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371757,060,220 - 57,060,347UniSTSGRCh37
Build 361754,415,002 - 54,415,129RGDNCBI36
Celera1753,522,566 - 53,522,693RGD
Cytogenetic Map17q22UniSTS
Cytogenetic Map17q23.2UniSTS
HuRef1752,420,716 - 52,420,843UniSTS
GeneMap99-GB4 RH Map17374.65UniSTS
Whitehead-RH Map17436.6UniSTS
A007E14  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371757,076,438 - 57,076,574UniSTSGRCh37
Build 361754,431,220 - 54,431,356RGDNCBI36
Celera1753,538,778 - 53,538,914RGD
Cytogenetic Map17q23.2UniSTS
HuRef1752,436,929 - 52,437,065UniSTS
GeneMap99-GB4 RH Map17377.81UniSTS
NCBI RH Map17665.5UniSTS
D17S1680  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371757,062,168 - 57,062,367UniSTSGRCh37
Build 361754,416,950 - 54,417,149RGDNCBI36
Celera1753,524,514 - 53,524,713RGD
Cytogenetic Map17q22UniSTS
Cytogenetic Map17q23.2UniSTS
HuRef1752,422,664 - 52,422,863UniSTS
GeneMap99-GB4 RH Map17377.81UniSTS
Whitehead-RH Map17434.9UniSTS
Whitehead-YAC Contig Map17 UniSTS
NCBI RH Map17665.5UniSTS
PPM1E__5569  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371757,060,403 - 57,061,270UniSTSGRCh37
Build 361754,415,185 - 54,416,052RGDNCBI36
Celera1753,522,749 - 53,523,616RGD
HuRef1752,420,899 - 52,421,766UniSTS
GDB:314677  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371757,090,313 - 57,090,548UniSTSGRCh37
GRCh37X27,515,381 - 27,515,728UniSTSGRCh37
GRCh371757,090,313 - 57,090,546UniSTSGRCh37
Celera1753,552,665 - 53,552,900UniSTS
Celera1753,552,665 - 53,552,898UniSTS
CeleraX31,643,971 - 31,644,312UniSTS
Cytogenetic Map17q23.2UniSTS
HuRefX25,254,933 - 25,255,304UniSTS
HuRef1752,450,742 - 52,450,975UniSTS
HuRef1752,450,742 - 52,450,977UniSTS
G32388  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371757,076,955 - 57,077,055UniSTSGRCh37
Celera1753,539,295 - 53,539,395UniSTS
Cytogenetic Map17q23.2UniSTS
HuRef1752,437,446 - 52,437,546UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2435 2788 2250 4972 1726 2350 5 623 1950 465 2269 7297 6467 53 3734 1 851 1743 1615 174 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_009298 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001005207 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001320987 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001320988 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001320989 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001320990 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001353082 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001353083 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001353084 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001353085 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001353086 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_015294 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_148346 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_148347 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005257385 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011524831 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011524832 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011524833 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011524834 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011524836 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017024662 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017024663 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017024664 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017024665 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017024667 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017024669 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017024670 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017024671 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017024672 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017024673 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024450765 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047436106 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047436107 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047436108 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047436109 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047436110 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047436111 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047436112 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047436113 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047436114 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047436115 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047436116 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047436117 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047436118 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047436119 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047436120 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047436121 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047436122 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047436123 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047436124 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047436125 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047436126 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054316198 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054316199 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054316200 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054316201 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054316202 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054316203 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054316204 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054316205 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054316206 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054316207 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054316208 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054316209 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054316210 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054316211 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054316212 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054316213 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054316214 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054316215 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054316216 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054316217 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054316218 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054316219 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054316220 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054316221 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054316222 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054316223 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054316224 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054316225 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054316226 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054316227 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054316228 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054316229 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054316230 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054316231 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054316232 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB020705 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC005207 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC036154 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC099850 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC100832 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF213365 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI307801 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI610736 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK022701 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK025648 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK289674 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK292459 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK294850 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC036012 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG722700 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ447834 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX537955 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471109 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CN388771 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068261 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC343932 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC351295 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000262294   ⟹   ENSP00000262294
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1758,998,202 - 59,106,880 (-)Ensembl
Ensembl Acc Id: ENST00000393065   ⟹   ENSP00000376784
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1758,998,987 - 59,106,826 (-)Ensembl
Ensembl Acc Id: ENST00000393066   ⟹   ENSP00000376785
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1758,982,651 - 59,106,921 (-)Ensembl
Ensembl Acc Id: ENST00000577554   ⟹   ENSP00000462340
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1758,998,200 - 59,106,740 (-)Ensembl
Ensembl Acc Id: ENST00000580122   ⟹   ENSP00000464688
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1759,079,798 - 59,106,459 (-)Ensembl
Ensembl Acc Id: ENST00000580620
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1759,087,979 - 59,106,664 (-)Ensembl
Ensembl Acc Id: ENST00000580973   ⟹   ENSP00000464590
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1759,075,684 - 59,106,715 (-)Ensembl
Ensembl Acc Id: ENST00000581468   ⟹   ENSP00000462863
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1759,061,089 - 59,081,162 (-)Ensembl
Ensembl Acc Id: ENST00000582852
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1759,064,152 - 59,079,807 (-)Ensembl
Ensembl Acc Id: ENST00000583387
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1759,087,980 - 59,106,711 (-)Ensembl
Ensembl Acc Id: ENST00000583945   ⟹   ENSP00000462778
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1758,982,651 - 59,012,407 (-)Ensembl
Ensembl Acc Id: ENST00000584889   ⟹   ENSP00000464263
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1759,088,226 - 59,106,468 (-)Ensembl
Ensembl Acc Id: ENST00000585287   ⟹   ENSP00000464666
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1758,982,638 - 59,015,617 (-)Ensembl
Ensembl Acc Id: ENST00000625984   ⟹   ENSP00000485901
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1759,090,053 - 59,106,461 (-)Ensembl
RefSeq Acc Id: NM_001005207   ⟹   NP_001005207
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381758,982,649 - 59,106,880 (-)NCBI
GRCh371757,059,999 - 57,184,266 (-)ENTREZGENE
GRCh371757,059,999 - 57,184,266 (-)NCBI
Build 361754,414,792 - 54,539,011 (-)NCBI Archive
HuRef1752,420,495 - 52,544,850 (-)ENTREZGENE
CHM1_11757,125,449 - 57,249,779 (-)NCBI
T2T-CHM13v2.01759,850,723 - 59,974,976 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001320987   ⟹   NP_001307916
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381758,998,202 - 59,106,880 (-)NCBI
CHM1_11757,141,007 - 57,249,779 (-)NCBI
T2T-CHM13v2.01759,866,275 - 59,974,976 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001320988   ⟹   NP_001307917
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381758,998,202 - 59,106,880 (-)NCBI
CHM1_11757,141,007 - 57,249,779 (-)NCBI
T2T-CHM13v2.01759,866,275 - 59,974,976 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001320989   ⟹   NP_001307918
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381758,982,649 - 59,106,880 (-)NCBI
CHM1_11757,125,449 - 57,249,779 (-)NCBI
T2T-CHM13v2.01759,850,723 - 59,974,976 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001320990   ⟹   NP_001307919
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381758,998,202 - 59,106,880 (-)NCBI
CHM1_11757,141,007 - 57,249,779 (-)NCBI
T2T-CHM13v2.01759,866,275 - 59,974,976 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001353082   ⟹   NP_001340011
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381758,998,202 - 59,106,880 (-)NCBI
T2T-CHM13v2.01759,866,275 - 59,974,976 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001353083   ⟹   NP_001340012
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381758,998,202 - 59,106,880 (-)NCBI
T2T-CHM13v2.01759,866,275 - 59,974,976 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001353084   ⟹   NP_001340013
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381758,998,202 - 59,106,880 (-)NCBI
T2T-CHM13v2.01759,866,275 - 59,974,976 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001353085   ⟹   NP_001340014
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381758,998,202 - 59,106,880 (-)NCBI
T2T-CHM13v2.01759,866,275 - 59,974,976 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001353086   ⟹   NP_001340015
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381758,998,202 - 59,106,880 (-)NCBI
T2T-CHM13v2.01759,866,275 - 59,974,976 (-)NCBI
Sequence:
RefSeq Acc Id: NM_015294   ⟹   NP_056109
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381758,998,202 - 59,106,880 (-)NCBI
GRCh371757,059,999 - 57,184,266 (-)ENTREZGENE
GRCh371757,059,999 - 57,184,266 (-)NCBI
Build 361754,430,345 - 54,539,011 (-)NCBI Archive
HuRef1752,420,495 - 52,544,850 (-)ENTREZGENE
CHM1_11757,141,007 - 57,249,779 (-)NCBI
T2T-CHM13v2.01759,866,275 - 59,974,976 (-)NCBI
Sequence:
RefSeq Acc Id: NR_148346
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381758,998,202 - 59,106,880 (-)NCBI
T2T-CHM13v2.01759,866,275 - 59,974,976 (-)NCBI
Sequence:
RefSeq Acc Id: NR_148347
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381758,998,202 - 59,106,880 (-)NCBI
T2T-CHM13v2.01759,866,275 - 59,974,976 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005257385   ⟹   XP_005257442
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381758,982,649 - 59,106,880 (-)NCBI
GRCh371757,059,999 - 57,184,266 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011524831   ⟹   XP_011523133
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381758,986,505 - 59,106,880 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011524832   ⟹   XP_011523134
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381758,984,769 - 59,106,880 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011524833   ⟹   XP_011523135
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381758,987,974 - 59,106,880 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011524834   ⟹   XP_011523136
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381758,987,974 - 59,106,880 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011524836   ⟹   XP_011523138
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381758,987,296 - 59,106,880 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017024662   ⟹   XP_016880151
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381758,967,201 - 59,106,880 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017024663   ⟹   XP_016880152
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381758,967,201 - 59,106,880 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017024665   ⟹   XP_016880154
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381758,986,474 - 59,106,880 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017024667   ⟹   XP_016880156
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381758,982,649 - 59,106,880 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017024669   ⟹   XP_016880158
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381758,998,202 - 59,106,880 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017024670   ⟹   XP_016880159
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381758,998,202 - 59,106,880 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017024673   ⟹   XP_016880162
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381758,987,974 - 59,075,693 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047436106   ⟹   XP_047292062
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381758,986,474 - 59,106,880 (-)NCBI
RefSeq Acc Id: XM_047436107   ⟹   XP_047292063
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381758,967,201 - 59,106,880 (-)NCBI
RefSeq Acc Id: XM_047436108   ⟹   XP_047292064
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381758,982,649 - 59,106,880 (-)NCBI
RefSeq Acc Id: XM_047436109   ⟹   XP_047292065
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381758,986,505 - 59,106,880 (-)NCBI
RefSeq Acc Id: XM_047436110   ⟹   XP_047292066
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381758,967,201 - 59,106,880 (-)NCBI
RefSeq Acc Id: XM_047436111   ⟹   XP_047292067
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381758,967,201 - 59,106,880 (-)NCBI
RefSeq Acc Id: XM_047436112   ⟹   XP_047292068
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381758,987,974 - 59,106,880 (-)NCBI
RefSeq Acc Id: XM_047436113   ⟹   XP_047292069
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381758,982,649 - 59,106,880 (-)NCBI
RefSeq Acc Id: XM_047436114   ⟹   XP_047292070
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381758,982,649 - 59,106,880 (-)NCBI
RefSeq Acc Id: XM_047436115   ⟹   XP_047292071
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381758,982,649 - 59,106,880 (-)NCBI
RefSeq Acc Id: XM_047436116   ⟹   XP_047292072
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381758,982,649 - 59,106,880 (-)NCBI
RefSeq Acc Id: XM_047436117   ⟹   XP_047292073
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381758,982,649 - 59,106,880 (-)NCBI
RefSeq Acc Id: XM_047436118   ⟹   XP_047292074
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381758,987,974 - 59,106,880 (-)NCBI
RefSeq Acc Id: XM_047436119   ⟹   XP_047292075
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381758,998,202 - 59,106,880 (-)NCBI
RefSeq Acc Id: XM_047436120   ⟹   XP_047292076
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381758,998,202 - 59,106,880 (-)NCBI
RefSeq Acc Id: XM_047436121   ⟹   XP_047292077
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381758,982,649 - 59,106,880 (-)NCBI
RefSeq Acc Id: XM_047436122   ⟹   XP_047292078
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381758,982,649 - 59,106,880 (-)NCBI
RefSeq Acc Id: XM_047436123   ⟹   XP_047292079
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381758,982,649 - 59,106,880 (-)NCBI
RefSeq Acc Id: XM_047436124   ⟹   XP_047292080
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381758,998,202 - 59,106,880 (-)NCBI
RefSeq Acc Id: XM_047436125   ⟹   XP_047292081
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381758,998,202 - 59,106,880 (-)NCBI
RefSeq Acc Id: XM_047436126   ⟹   XP_047292082
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381758,998,202 - 59,106,880 (-)NCBI
RefSeq Acc Id: XM_054316198   ⟹   XP_054172173
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01759,854,579 - 59,974,976 (-)NCBI
RefSeq Acc Id: XM_054316199   ⟹   XP_054172174
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01759,837,801 - 59,974,976 (-)NCBI
RefSeq Acc Id: XM_054316200   ⟹   XP_054172175
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01759,854,038 - 59,974,976 (-)NCBI
RefSeq Acc Id: XM_054316201   ⟹   XP_054172176
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01759,835,276 - 59,974,976 (-)NCBI
RefSeq Acc Id: XM_054316202   ⟹   XP_054172177
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01759,856,048 - 59,974,976 (-)NCBI
RefSeq Acc Id: XM_054316203   ⟹   XP_054172178
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01759,850,723 - 59,974,976 (-)NCBI
RefSeq Acc Id: XM_054316204   ⟹   XP_054172179
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01759,854,548 - 59,974,976 (-)NCBI
RefSeq Acc Id: XM_054316205   ⟹   XP_054172180
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01759,856,048 - 59,974,976 (-)NCBI
RefSeq Acc Id: XM_054316206   ⟹   XP_054172181
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01759,837,801 - 59,974,976 (-)NCBI
RefSeq Acc Id: XM_054316207   ⟹   XP_054172182
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01759,850,723 - 59,974,976 (-)NCBI
RefSeq Acc Id: XM_054316208   ⟹   XP_054172183
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01759,854,548 - 59,974,976 (-)NCBI
RefSeq Acc Id: XM_054316209   ⟹   XP_054172184
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01759,854,579 - 59,974,976 (-)NCBI
RefSeq Acc Id: XM_054316210   ⟹   XP_054172185
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01759,835,284 - 59,974,976 (-)NCBI
RefSeq Acc Id: XM_054316211   ⟹   XP_054172186
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01759,855,370 - 59,974,976 (-)NCBI
RefSeq Acc Id: XM_054316212   ⟹   XP_054172187
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01759,835,871 - 59,974,976 (-)NCBI
RefSeq Acc Id: XM_054316213   ⟹   XP_054172188
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01759,850,723 - 59,974,976 (-)NCBI
RefSeq Acc Id: XM_054316214   ⟹   XP_054172189
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01759,856,048 - 59,974,976 (-)NCBI
RefSeq Acc Id: XM_054316215   ⟹   XP_054172190
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01759,850,723 - 59,974,976 (-)NCBI
RefSeq Acc Id: XM_054316216   ⟹   XP_054172191
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01759,850,723 - 59,974,976 (-)NCBI
RefSeq Acc Id: XM_054316217   ⟹   XP_054172192
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01759,850,723 - 59,974,976 (-)NCBI
RefSeq Acc Id: XM_054316218   ⟹   XP_054172193
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01759,850,723 - 59,974,976 (-)NCBI
RefSeq Acc Id: XM_054316219   ⟹   XP_054172194
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01759,866,275 - 59,974,976 (-)NCBI
RefSeq Acc Id: XM_054316220   ⟹   XP_054172195
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01759,850,723 - 59,974,976 (-)NCBI
RefSeq Acc Id: XM_054316221   ⟹   XP_054172196
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01759,856,048 - 59,974,976 (-)NCBI
RefSeq Acc Id: XM_054316222   ⟹   XP_054172197
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01759,866,275 - 59,974,976 (-)NCBI
RefSeq Acc Id: XM_054316223   ⟹   XP_054172198
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01759,866,275 - 59,974,976 (-)NCBI
RefSeq Acc Id: XM_054316224   ⟹   XP_054172199
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01759,866,275 - 59,974,976 (-)NCBI
RefSeq Acc Id: XM_054316225   ⟹   XP_054172200
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01759,850,723 - 59,974,976 (-)NCBI
RefSeq Acc Id: XM_054316226   ⟹   XP_054172201
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01759,850,723 - 59,974,976 (-)NCBI
RefSeq Acc Id: XM_054316227   ⟹   XP_054172202
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01759,850,723 - 59,974,976 (-)NCBI
RefSeq Acc Id: XM_054316228   ⟹   XP_054172203
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01759,866,275 - 59,974,976 (-)NCBI
RefSeq Acc Id: XM_054316229   ⟹   XP_054172204
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01759,866,275 - 59,974,976 (-)NCBI
RefSeq Acc Id: XM_054316230   ⟹   XP_054172205
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01759,866,275 - 59,974,976 (-)NCBI
RefSeq Acc Id: XM_054316231   ⟹   XP_054172206
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01759,856,048 - 59,956,493 (-)NCBI
RefSeq Acc Id: XM_054316232   ⟹   XP_054172207
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01759,856,048 - 59,943,786 (-)NCBI
Protein Sequences
Protein RefSeqs NP_001005207 (Get FASTA)   NCBI Sequence Viewer  
  NP_001307916 (Get FASTA)   NCBI Sequence Viewer  
  NP_001307917 (Get FASTA)   NCBI Sequence Viewer  
  NP_001307918 (Get FASTA)   NCBI Sequence Viewer  
  NP_001307919 (Get FASTA)   NCBI Sequence Viewer  
  NP_001340011 (Get FASTA)   NCBI Sequence Viewer  
  NP_001340012 (Get FASTA)   NCBI Sequence Viewer  
  NP_001340013 (Get FASTA)   NCBI Sequence Viewer  
  NP_001340014 (Get FASTA)   NCBI Sequence Viewer  
  NP_001340015 (Get FASTA)   NCBI Sequence Viewer  
  NP_056109 (Get FASTA)   NCBI Sequence Viewer  
  XP_005257442 (Get FASTA)   NCBI Sequence Viewer  
  XP_011523133 (Get FASTA)   NCBI Sequence Viewer  
  XP_011523134 (Get FASTA)   NCBI Sequence Viewer  
  XP_011523135 (Get FASTA)   NCBI Sequence Viewer  
  XP_011523136 (Get FASTA)   NCBI Sequence Viewer  
  XP_011523138 (Get FASTA)   NCBI Sequence Viewer  
  XP_016880151 (Get FASTA)   NCBI Sequence Viewer  
  XP_016880152 (Get FASTA)   NCBI Sequence Viewer  
  XP_016880154 (Get FASTA)   NCBI Sequence Viewer  
  XP_016880156 (Get FASTA)   NCBI Sequence Viewer  
  XP_016880158 (Get FASTA)   NCBI Sequence Viewer  
  XP_016880159 (Get FASTA)   NCBI Sequence Viewer  
  XP_016880162 (Get FASTA)   NCBI Sequence Viewer  
  XP_047292062 (Get FASTA)   NCBI Sequence Viewer  
  XP_047292063 (Get FASTA)   NCBI Sequence Viewer  
  XP_047292064 (Get FASTA)   NCBI Sequence Viewer  
  XP_047292065 (Get FASTA)   NCBI Sequence Viewer  
  XP_047292066 (Get FASTA)   NCBI Sequence Viewer  
  XP_047292067 (Get FASTA)   NCBI Sequence Viewer  
  XP_047292068 (Get FASTA)   NCBI Sequence Viewer  
  XP_047292069 (Get FASTA)   NCBI Sequence Viewer  
  XP_047292070 (Get FASTA)   NCBI Sequence Viewer  
  XP_047292071 (Get FASTA)   NCBI Sequence Viewer  
  XP_047292072 (Get FASTA)   NCBI Sequence Viewer  
  XP_047292073 (Get FASTA)   NCBI Sequence Viewer  
  XP_047292074 (Get FASTA)   NCBI Sequence Viewer  
  XP_047292075 (Get FASTA)   NCBI Sequence Viewer  
  XP_047292076 (Get FASTA)   NCBI Sequence Viewer  
  XP_047292077 (Get FASTA)   NCBI Sequence Viewer  
  XP_047292078 (Get FASTA)   NCBI Sequence Viewer  
  XP_047292079 (Get FASTA)   NCBI Sequence Viewer  
  XP_047292080 (Get FASTA)   NCBI Sequence Viewer  
  XP_047292081 (Get FASTA)   NCBI Sequence Viewer  
  XP_047292082 (Get FASTA)   NCBI Sequence Viewer  
  XP_054172173 (Get FASTA)   NCBI Sequence Viewer  
  XP_054172174 (Get FASTA)   NCBI Sequence Viewer  
  XP_054172175 (Get FASTA)   NCBI Sequence Viewer  
  XP_054172176 (Get FASTA)   NCBI Sequence Viewer  
  XP_054172177 (Get FASTA)   NCBI Sequence Viewer  
  XP_054172178 (Get FASTA)   NCBI Sequence Viewer  
  XP_054172179 (Get FASTA)   NCBI Sequence Viewer  
  XP_054172180 (Get FASTA)   NCBI Sequence Viewer  
  XP_054172181 (Get FASTA)   NCBI Sequence Viewer  
  XP_054172182 (Get FASTA)   NCBI Sequence Viewer  
  XP_054172183 (Get FASTA)   NCBI Sequence Viewer  
  XP_054172184 (Get FASTA)   NCBI Sequence Viewer  
  XP_054172185 (Get FASTA)   NCBI Sequence Viewer  
  XP_054172186 (Get FASTA)   NCBI Sequence Viewer  
  XP_054172187 (Get FASTA)   NCBI Sequence Viewer  
  XP_054172188 (Get FASTA)   NCBI Sequence Viewer  
  XP_054172189 (Get FASTA)   NCBI Sequence Viewer  
  XP_054172190 (Get FASTA)   NCBI Sequence Viewer  
  XP_054172191 (Get FASTA)   NCBI Sequence Viewer  
  XP_054172192 (Get FASTA)   NCBI Sequence Viewer  
  XP_054172193 (Get FASTA)   NCBI Sequence Viewer  
  XP_054172194 (Get FASTA)   NCBI Sequence Viewer  
  XP_054172195 (Get FASTA)   NCBI Sequence Viewer  
  XP_054172196 (Get FASTA)   NCBI Sequence Viewer  
  XP_054172197 (Get FASTA)   NCBI Sequence Viewer  
  XP_054172198 (Get FASTA)   NCBI Sequence Viewer  
  XP_054172199 (Get FASTA)   NCBI Sequence Viewer  
  XP_054172200 (Get FASTA)   NCBI Sequence Viewer  
  XP_054172201 (Get FASTA)   NCBI Sequence Viewer  
  XP_054172202 (Get FASTA)   NCBI Sequence Viewer  
  XP_054172203 (Get FASTA)   NCBI Sequence Viewer  
  XP_054172204 (Get FASTA)   NCBI Sequence Viewer  
  XP_054172205 (Get FASTA)   NCBI Sequence Viewer  
  XP_054172206 (Get FASTA)   NCBI Sequence Viewer  
  XP_054172207 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH36012 (Get FASTA)   NCBI Sequence Viewer  
  AAL36460 (Get FASTA)   NCBI Sequence Viewer  
  BAA74921 (Get FASTA)   NCBI Sequence Viewer  
  BAF82363 (Get FASTA)   NCBI Sequence Viewer  
  BAF85148 (Get FASTA)   NCBI Sequence Viewer  
  BAG51105 (Get FASTA)   NCBI Sequence Viewer  
  BAG57954 (Get FASTA)   NCBI Sequence Viewer  
  CAD97922 (Get FASTA)   NCBI Sequence Viewer  
  EAW94424 (Get FASTA)   NCBI Sequence Viewer  
  EAW94425 (Get FASTA)   NCBI Sequence Viewer  
  EAW94426 (Get FASTA)   NCBI Sequence Viewer  
  EAW94427 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000262294
  ENSP00000262294.7
  ENSP00000376784
  ENSP00000376784.2
  ENSP00000376785
  ENSP00000376785.3
  ENSP00000462340.1
  ENSP00000462778.1
  ENSP00000462863.1
  ENSP00000464263.1
  ENSP00000464590.1
  ENSP00000464666.1
  ENSP00000464688.1
  ENSP00000485901.1
GenBank Protein O94972 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_001005207   ⟸   NM_001005207
- Peptide Label: isoform a
- UniProtKB: Q8IYF7 (UniProtKB/Swiss-Prot),   Q7Z3E6 (UniProtKB/Swiss-Prot),   F8WEE6 (UniProtKB/Swiss-Prot),   B4DGZ3 (UniProtKB/Swiss-Prot),   A8MZ79 (UniProtKB/Swiss-Prot),   A8K8U4 (UniProtKB/Swiss-Prot),   A8K0V9 (UniProtKB/Swiss-Prot),   Q8WYF7 (UniProtKB/Swiss-Prot),   O94972 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_056109   ⟸   NM_015294
- Peptide Label: isoform a
- UniProtKB: Q8IYF7 (UniProtKB/Swiss-Prot),   Q7Z3E6 (UniProtKB/Swiss-Prot),   F8WEE6 (UniProtKB/Swiss-Prot),   B4DGZ3 (UniProtKB/Swiss-Prot),   A8MZ79 (UniProtKB/Swiss-Prot),   A8K8U4 (UniProtKB/Swiss-Prot),   A8K0V9 (UniProtKB/Swiss-Prot),   Q8WYF7 (UniProtKB/Swiss-Prot),   O94972 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005257442   ⟸   XM_005257385
- Peptide Label: isoform X6
- Sequence:
RefSeq Acc Id: XP_011523135   ⟸   XM_011524833
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: XP_011523138   ⟸   XM_011524836
- Peptide Label: isoform X14
- Sequence:
RefSeq Acc Id: XP_011523134   ⟸   XM_011524832
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_011523133   ⟸   XM_011524831
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011523136   ⟸   XM_011524834
- Peptide Label: isoform X8
- Sequence:
RefSeq Acc Id: NP_001307918   ⟸   NM_001320989
- Peptide Label: isoform c
- Sequence:
RefSeq Acc Id: NP_001307916   ⟸   NM_001320987
- Peptide Label: isoform b
- UniProtKB: O94972 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001307917   ⟸   NM_001320988
- Peptide Label: isoform c
- Sequence:
RefSeq Acc Id: NP_001307919   ⟸   NM_001320990
- Peptide Label: isoform d
- UniProtKB: O94972 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016880152   ⟸   XM_017024663
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_016880151   ⟸   XM_017024662
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_016880156   ⟸   XM_017024667
- Peptide Label: isoform X16
- Sequence:
RefSeq Acc Id: XP_016880154   ⟸   XM_017024665
- Peptide Label: isoform X11
- Sequence:
RefSeq Acc Id: XP_016880162   ⟸   XM_017024673
- Peptide Label: isoform X34
- Sequence:
RefSeq Acc Id: XP_016880159   ⟸   XM_017024670
- Peptide Label: isoform X27
- Sequence:
RefSeq Acc Id: XP_016880158   ⟸   XM_017024669
- Peptide Label: isoform X22
- Sequence:
RefSeq Acc Id: NP_001340014   ⟸   NM_001353085
- Peptide Label: isoform h
- Sequence:
RefSeq Acc Id: NP_001340011   ⟸   NM_001353082
- Peptide Label: isoform e
- Sequence:
RefSeq Acc Id: NP_001340015   ⟸   NM_001353086
- Peptide Label: isoform i
- Sequence:
RefSeq Acc Id: NP_001340013   ⟸   NM_001353084
- Peptide Label: isoform g
- Sequence:
RefSeq Acc Id: NP_001340012   ⟸   NM_001353083
- Peptide Label: isoform f
- Sequence:
Ensembl Acc Id: ENSP00000464590   ⟸   ENST00000580973
Ensembl Acc Id: ENSP00000464688   ⟸   ENST00000580122
Ensembl Acc Id: ENSP00000462863   ⟸   ENST00000581468
Ensembl Acc Id: ENSP00000462778   ⟸   ENST00000583945
Ensembl Acc Id: ENSP00000464263   ⟸   ENST00000584889
Ensembl Acc Id: ENSP00000464666   ⟸   ENST00000585287
Ensembl Acc Id: ENSP00000485901   ⟸   ENST00000625984
Ensembl Acc Id: ENSP00000462340   ⟸   ENST00000577554
Ensembl Acc Id: ENSP00000376785   ⟸   ENST00000393066
Ensembl Acc Id: ENSP00000376784   ⟸   ENST00000393065
Ensembl Acc Id: ENSP00000262294   ⟸   ENST00000262294
RefSeq Acc Id: XP_047292066   ⟸   XM_047436110
- Peptide Label: isoform X13
RefSeq Acc Id: XP_047292063   ⟸   XM_047436107
- Peptide Label: isoform X9
RefSeq Acc Id: XP_047292067   ⟸   XM_047436111
- Peptide Label: isoform X15
RefSeq Acc Id: XP_047292078   ⟸   XM_047436122
- Peptide Label: isoform X29
RefSeq Acc Id: XP_047292077   ⟸   XM_047436121
- Peptide Label: isoform X28
RefSeq Acc Id: XP_047292070   ⟸   XM_047436114
- Peptide Label: isoform X19
RefSeq Acc Id: XP_047292069   ⟸   XM_047436113
- Peptide Label: isoform X18
RefSeq Acc Id: XP_047292073   ⟸   XM_047436117
- Peptide Label: isoform X23
RefSeq Acc Id: XP_047292064   ⟸   XM_047436108
- Peptide Label: isoform X10
RefSeq Acc Id: XP_047292079   ⟸   XM_047436123
- Peptide Label: isoform X30
RefSeq Acc Id: XP_047292072   ⟸   XM_047436116
- Peptide Label: isoform X21
RefSeq Acc Id: XP_047292071   ⟸   XM_047436115
- Peptide Label: isoform X20
RefSeq Acc Id: XP_047292062   ⟸   XM_047436106
- Peptide Label: isoform X7
RefSeq Acc Id: XP_047292065   ⟸   XM_047436109
- Peptide Label: isoform X12
RefSeq Acc Id: XP_047292068   ⟸   XM_047436112
- Peptide Label: isoform X17
RefSeq Acc Id: XP_047292074   ⟸   XM_047436118
- Peptide Label: isoform X24
RefSeq Acc Id: XP_047292081   ⟸   XM_047436125
- Peptide Label: isoform X32
RefSeq Acc Id: XP_047292080   ⟸   XM_047436124
- Peptide Label: isoform X31
RefSeq Acc Id: XP_047292082   ⟸   XM_047436126
- Peptide Label: isoform X33
RefSeq Acc Id: XP_047292076   ⟸   XM_047436120
- Peptide Label: isoform X26
RefSeq Acc Id: XP_047292075   ⟸   XM_047436119
- Peptide Label: isoform X25
RefSeq Acc Id: XP_054172176   ⟸   XM_054316201
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054172185   ⟸   XM_054316210
- Peptide Label: isoform X13
RefSeq Acc Id: XP_054172187   ⟸   XM_054316212
- Peptide Label: isoform X15
RefSeq Acc Id: XP_054172181   ⟸   XM_054316206
- Peptide Label: isoform X9
RefSeq Acc Id: XP_054172174   ⟸   XM_054316199
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054172201   ⟸   XM_054316226
- Peptide Label: isoform X29
RefSeq Acc Id: XP_054172200   ⟸   XM_054316225
- Peptide Label: isoform X28
RefSeq Acc Id: XP_054172191   ⟸   XM_054316216
- Peptide Label: isoform X19
RefSeq Acc Id: XP_054172190   ⟸   XM_054316215
- Peptide Label: isoform X18
RefSeq Acc Id: XP_054172195   ⟸   XM_054316220
- Peptide Label: isoform X23
RefSeq Acc Id: XP_054172188   ⟸   XM_054316213
- Peptide Label: isoform X16
RefSeq Acc Id: XP_054172182   ⟸   XM_054316207
- Peptide Label: isoform X10
RefSeq Acc Id: XP_054172202   ⟸   XM_054316227
- Peptide Label: isoform X30
RefSeq Acc Id: XP_054172193   ⟸   XM_054316218
- Peptide Label: isoform X21
RefSeq Acc Id: XP_054172192   ⟸   XM_054316217
- Peptide Label: isoform X20
RefSeq Acc Id: XP_054172178   ⟸   XM_054316203
- Peptide Label: isoform X6
RefSeq Acc Id: XP_054172175   ⟸   XM_054316200
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054172183   ⟸   XM_054316208
- Peptide Label: isoform X11
RefSeq Acc Id: XP_054172179   ⟸   XM_054316204
- Peptide Label: isoform X7
RefSeq Acc Id: XP_054172184   ⟸   XM_054316209
- Peptide Label: isoform X12
RefSeq Acc Id: XP_054172173   ⟸   XM_054316198
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054172186   ⟸   XM_054316211
- Peptide Label: isoform X14
RefSeq Acc Id: XP_054172189   ⟸   XM_054316214
- Peptide Label: isoform X17
RefSeq Acc Id: XP_054172180   ⟸   XM_054316205
- Peptide Label: isoform X8
RefSeq Acc Id: XP_054172177   ⟸   XM_054316202
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054172196   ⟸   XM_054316221
- Peptide Label: isoform X24
RefSeq Acc Id: XP_054172206   ⟸   XM_054316231
- Peptide Label: isoform X35
RefSeq Acc Id: XP_054172207   ⟸   XM_054316232
- Peptide Label: isoform X34
RefSeq Acc Id: XP_054172204   ⟸   XM_054316229
- Peptide Label: isoform X32
RefSeq Acc Id: XP_054172203   ⟸   XM_054316228
- Peptide Label: isoform X31
RefSeq Acc Id: XP_054172194   ⟸   XM_054316219
- Peptide Label: isoform X22
RefSeq Acc Id: XP_054172205   ⟸   XM_054316230
- Peptide Label: isoform X33
RefSeq Acc Id: XP_054172198   ⟸   XM_054316223
- Peptide Label: isoform X26
RefSeq Acc Id: XP_054172199   ⟸   XM_054316224
- Peptide Label: isoform X27
RefSeq Acc Id: XP_054172197   ⟸   XM_054316222
- Peptide Label: isoform X25
Protein Domains
MATH   RING-type

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-O94972-F1-model_v2 AlphaFold O94972 1-964 view protein structure

Promoters
RGD ID:6811375
Promoter ID:HG_ACW:35534
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:TRIM37.KAPR07-UNSPLICED
Position:
Human AssemblyChrPosition (strand)Source
Build 361754,433,506 - 54,434,006 (-)MPROMDB
RGD ID:6794650
Promoter ID:HG_KWN:26709
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell_12Hour,   CD4+TCell_2Hour,   K562,   Lymphoblastoid
Transcripts:ENST00000376149,   NM_001005207,   NM_015294,   UC002IXA.2
Position:
Human AssemblyChrPosition (strand)Source
Build 361754,538,714 - 54,539,214 (-)MPROMDB
RGD ID:7235825
Promoter ID:EPDNEW_H23658
Type:initiation region
Name:TRIM37_2
Description:tripartite motif containing 37
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H23659  EPDNEW_H23662  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381759,106,736 - 59,106,796EPDNEW
RGD ID:7235831
Promoter ID:EPDNEW_H23659
Type:initiation region
Name:TRIM37_3
Description:tripartite motif containing 37
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H23658  EPDNEW_H23662  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381759,106,873 - 59,106,933EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:7523 AgrOrtholog
COSMIC TRIM37 COSMIC
Ensembl Genes ENSG00000108395 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000262294 ENTREZGENE
  ENST00000262294.12 UniProtKB/Swiss-Prot
  ENST00000393065 ENTREZGENE
  ENST00000393065.6 UniProtKB/Swiss-Prot
  ENST00000393066 ENTREZGENE
  ENST00000393066.7 UniProtKB/Swiss-Prot
  ENST00000577554 ENTREZGENE
  ENST00000577554.5 UniProtKB/TrEMBL
  ENST00000580122.5 UniProtKB/TrEMBL
  ENST00000580973.5 UniProtKB/TrEMBL
  ENST00000581468.1 UniProtKB/TrEMBL
  ENST00000583945.5 UniProtKB/TrEMBL
  ENST00000584889.3 UniProtKB/TrEMBL
  ENST00000585287.5 UniProtKB/TrEMBL
  ENST00000625984.1 UniProtKB/TrEMBL
Gene3D-CATH 3.30.40.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Classic Zinc Finger UniProtKB/Swiss-Prot
GTEx ENSG00000108395 GTEx
HGNC ID HGNC:7523 ENTREZGENE
Human Proteome Map TRIM37 Human Proteome Map
InterPro Bbox_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MATH/TRAF_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TRAF-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TRIM37_MATH UniProtKB/Swiss-Prot
  TRIM_RBCC_E3_ubiq-ligases UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_B-box UniProtKB/Swiss-Prot
  Znf_RING UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_RING/FYVE/PHD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:4591 UniProtKB/Swiss-Prot
NCBI Gene 4591 ENTREZGENE
OMIM 605073 OMIM
PANTHER E3 UBIQUITIN-PROTEIN LIGASE TRIM37 UniProtKB/Swiss-Prot
  E3 UBIQUITIN-PROTEIN LIGASE TRIM37 UniProtKB/Swiss-Prot
  E3 UBIQUITIN-PROTEIN LIGASE TRIM37 UniProtKB/TrEMBL
  E3 UBIQUITIN-PROTEIN LIGASE TRIM37 UniProtKB/TrEMBL
Pfam MATH_2 UniProtKB/Swiss-Prot
  zf-B_box UniProtKB/Swiss-Prot
  zf-C3HC4_3 UniProtKB/TrEMBL
PharmGKB PA35497 PharmGKB
PROSITE MATH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ZF_BBOX UniProtKB/Swiss-Prot
  ZF_RING_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART BBC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  BBOX UniProtKB/Swiss-Prot
  MATH UniProtKB/Swiss-Prot
Superfamily-SCOP B-box zinc-binding domain UniProtKB/Swiss-Prot
  RING/U-box UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TRAF domain-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A8K0V9 ENTREZGENE
  A8K8U4 ENTREZGENE
  A8MZ79 ENTREZGENE
  B4DGZ3 ENTREZGENE
  F8WEE6 ENTREZGENE
  J3KS72_HUMAN UniProtKB/TrEMBL
  J3KT32_HUMAN UniProtKB/TrEMBL
  J3KT90_HUMAN UniProtKB/TrEMBL
  J3QRK3_HUMAN UniProtKB/TrEMBL
  J3QSA0_HUMAN UniProtKB/TrEMBL
  J3QSF6_HUMAN UniProtKB/TrEMBL
  J3QSH5_HUMAN UniProtKB/TrEMBL
  O94972 ENTREZGENE
  Q7Z3E6 ENTREZGENE
  Q8IYF7 ENTREZGENE
  Q8WYF7 ENTREZGENE
  TRI37_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary A8K0V9 UniProtKB/Swiss-Prot
  A8K8U4 UniProtKB/Swiss-Prot
  A8MZ79 UniProtKB/Swiss-Prot
  B4DGZ3 UniProtKB/Swiss-Prot
  F8WEE6 UniProtKB/Swiss-Prot
  Q7Z3E6 UniProtKB/Swiss-Prot
  Q8IYF7 UniProtKB/Swiss-Prot
  Q8WYF7 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2011-07-27 TRIM37  tripartite motif containing 37  TRIM37  tripartite motif-containing 37  Symbol and/or name change 5135510 APPROVED