SETD2 (SET domain containing 2, histone lysine methyltransferase) - Rat Genome Database

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Gene: SETD2 (SET domain containing 2, histone lysine methyltransferase) Homo sapiens
Analyze
Symbol: SETD2
Name: SET domain containing 2, histone lysine methyltransferase
RGD ID: 1602894
HGNC Page HGNC:18420
Description: Enables alpha-tubulin binding activity and histone H3K36 methyltransferase activity. Involved in several processes, including defense response to symbiont; peptidyl-lysine trimethylation; and positive regulation of metabolic process. Predicted to be located in nucleoplasm. Predicted to be active in chromosome and nucleus. Implicated in autosomal dominant intellectual developmental disorder; clear cell renal cell carcinoma; gastrointestinal system cancer (multiple); lung disease (multiple); and malignant mesothelioma (multiple). Biomarker of colorectal cancer; liver cancer; malignant pleural mesothelioma; and stomach cancer.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: FLJ16420; FLJ22472; FLJ23184; FLJ45883; FLJ46217; HBP231; HIF-1; HIP-1; histone-lysine N-methyltransferase SETD2; hSET2; HSPC069; huntingtin interacting protein 1; huntingtin yeast partner B; huntingtin-interacting protein 1; huntingtin-interacting protein B; HYPB; KIAA1732; KMT3A; LLS; lysine N-methyltransferase 3A; MRD70; p231HBP; protein-lysine N-methyltransferase SETD2; RAPAS; SET domain containing 2; SET domain-containing protein 2; SET2
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
GRCh38347,016,436 - 47,164,840 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl347,016,428 - 47,164,113 (-)EnsemblGRCh38hg38GRCh38
GRCh37347,057,926 - 47,205,603 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36347,032,910 - 47,140,744 (-)NCBINCBI36Build 36hg18NCBI36
Celera346,996,415 - 47,143,855 (-)NCBICelera
Cytogenetic Map3p21.31NCBI
HuRef347,101,003 - 47,248,517 (-)NCBIHuRef
CHM1_1347,008,283 - 47,155,743 (-)NCBICHM1_1
T2T-CHM13v2.0347,032,799 - 47,180,480 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


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

Biological Process
angiogenesis  (IEA,ISO)
cell differentiation  (IEA)
cell migration involved in vasculogenesis  (IEA,ISO)
chromatin organization  (IEA)
chromatin remodeling  (IEA)
coronary vasculature morphogenesis  (IEA,ISO)
defense response to virus  (IDA,IEA)
DNA repair  (IEA)
embryonic cranial skeleton morphogenesis  (IEA,ISO)
embryonic organ development  (IEA,ISO)
embryonic placenta morphogenesis  (IEA,ISO)
endodermal cell differentiation  (IEA,ISS)
forebrain development  (IEA,ISO)
innate immune response  (IEA)
mesoderm morphogenesis  (IEA,ISO)
methylation  (IEA)
microtubule cytoskeleton organization involved in mitosis  (IDA)
mismatch repair  (IMP)
morphogenesis of a branching structure  (IEA,ISO)
neural tube closure  (IEA,ISO)
nucleosome organization  (IMP)
obsolete response to organic cyclic compound  (IEA)
peptidyl-lysine trimethylation  (IDA,ISO)
pericardium development  (IEA,ISO)
positive regulation of autophagy  (IDA)
positive regulation of interferon-alpha production  (IDA)
positive regulation of ossification  (IEA,ISO)
regulation of cytokinesis  (IDA)
regulation of DNA-templated transcription  (IEA)
regulation of double-strand break repair via homologous recombination  (IDA)
regulation of gene expression  (IBA,IEA,ISO)
regulation of mRNA export from nucleus  (IMP)
regulation of protein localization to chromatin  (IDA)
response to alkaloid  (IEA,ISO)
response to metal ion  (IEA,ISO)
response to type I interferon  (IDA)
stem cell development  (IEA,ISO)
stem cell differentiation  (IEA,ISS)
transcription elongation by RNA polymerase II  (IMP)
vasculogenesis  (IEA,ISO)

Cellular Component
chromosome  (IBA,IEA,ISS)
cytoplasm  (IC)
nucleoplasm  (TAS)
nucleus  (IBA,IEA,ISS)

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

Human Phenotype
Advanced ossification of carpal bones  (IAGP)
Agenesis of corpus callosum  (IAGP)
Aggressive behavior  (IAGP)
Anxiety  (IAGP)
Autism  (IAGP)
Autistic behavior  (IAGP)
Autosomal dominant inheritance  (IAGP)
Broad nasal tip  (IAGP)
Cataract  (IAGP)
Cerebellar hypoplasia  (IAGP)
Cerebellar vermis hypoplasia  (IAGP)
Chiari malformation  (IAGP)
Chiari type I malformation  (IAGP)
Conductive hearing impairment  (IAGP)
Delayed speech and language development  (IAGP)
Downslanted palpebral fissures  (IAGP)
Excessive shyness  (IAGP)
Failure to thrive  (IAGP)
Failure to thrive in infancy  (IAGP)
Feeding difficulties  (IAGP)
Generalized hypotonia  (IAGP)
Global developmental delay  (IAGP)
Hearing impairment  (IAGP)
High anterior hairline  (IAGP)
High forehead  (IAGP)
Highly arched eyebrow  (IAGP)
Hirsutism  (IAGP)
Hydrocephalus  (IAGP)
Hypertelorism  (IAGP)
Hyponatremia  (IAGP)
Hypoplasia of the corpus callosum  (IAGP)
Hypoplasia of the maxilla  (IAGP)
Hypoplasia of the pons  (IAGP)
Hypotonia  (IAGP)
Hypoventilation  (IAGP)
Intellectual disability  (IAGP)
Irregular menstruation  (IAGP)
Long face  (IAGP)
Long foot  (IAGP)
Long nose  (IAGP)
Low hanging columella  (IAGP)
Lung adenocarcinoma  (IAGP)
Macrocephaly  (IAGP)
Malar flattening  (IAGP)
Malignant mesothelioma  (IAGP)
Mandibular prognathia  (IAGP)
Microcephaly  (IAGP)
Micrognathia  (IAGP)
Neoplasm of the gastrointestinal tract  (IAGP)
Obesity  (IAGP)
Optic nerve hypoplasia  (IAGP)
Overgrowth  (IAGP)
Periorbital fullness  (IAGP)
Pleural mesothelioma  (IAGP)
Pointed chin  (IAGP)
Polycystic ovaries  (IAGP)
Polyphagia  (IAGP)
Postnatal macrocephaly  (IAGP)
Prominent forehead  (IAGP)
Pulmonary fibrosis  (IAGP)
Recurrent otitis media  (IAGP)
Retinal detachment  (IAGP)
Retinal telangiectasia  (IAGP)
Retrognathia  (IAGP)
Seizure  (IAGP)
Sensorineural hearing impairment  (IAGP)
Short palpebral fissure  (IAGP)
Short stature  (IAGP)
Slurred speech  (IAGP)
Syringomyelia  (IAGP)
T-cell lymphoma  (IAGP)
Teratoma  (IAGP)
Tracheomalacia  (IAGP)
Upslanted palpebral fissure  (IAGP)
Usual interstitial pneumonia  (IAGP)
Ventriculomegaly  (IAGP)
Wide nasal bridge  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Genetic pathways involved in carcinogenesis of clear cell renal cell carcinoma: genomics towards personalized medicine. Audenet F, etal., BJU Int. 2012 Jun;109(12):1864-70. doi: 10.1111/j.1464-410X.2011.10661.x. Epub 2011 Oct 28.
2. Genomic characterization of sarcomatoid transformation in clear cell renal cell carcinoma. Bi M, etal., Proc Natl Acad Sci U S A. 2016 Feb 23;113(8):2170-5. doi: 10.1073/pnas.1525735113. Epub 2016 Feb 10.
3. Histone lysine methylation dynamics: establishment, regulation, and biological impact. Black JC, etal., Mol Cell. 2012 Nov 30;48(4):491-507. doi: 10.1016/j.molcel.2012.11.006.
4. Comprehensive genomic analysis of malignant pleural mesothelioma identifies recurrent mutations, gene fusions and splicing alterations. Bueno R, etal., Nat Genet. 2016 Apr;48(4):407-16. doi: 10.1038/ng.3520. Epub 2016 Feb 29.
5. SETD2 indicates favourable prognosis in gastric cancer and suppresses cancer cell proliferation, migration, and invasion. Chen Z, etal., Biochem Biophys Res Commun. 2018 Apr 6;498(3):579-585. doi: 10.1016/j.bbrc.2018.03.022. Epub 2018 Mar 9.
6. Frameshift mutation of a histone methylation-related gene SETD1B and its regional heterogeneity in gastric and colorectal cancers with high microsatellite instability. Choi YJ, etal., Hum Pathol. 2014 Aug;45(8):1674-81. doi: 10.1016/j.humpath.2014.04.013. Epub 2014 Apr 24.
7. Genetic Determinants of EGFR-Driven Lung Cancer Growth and Therapeutic Response In Vivo. Foggetti G, etal., Cancer Discov. 2021 Jul;11(7):1736-1753. doi: 10.1158/2159-8290.CD-20-1385. Epub 2021 Mar 11.
8. Reduced expression of SETD2 and SNX9 proteins in chemically induced mammary tumorigenesis in Wistar rats: a prognostic histological and proteomic study. Ganaie IA, etal., Protoplasma. 2017 May;254(3):1451-1466. doi: 10.1007/s00709-016-1035-2. Epub 2016 Oct 20.
9. Genetic alterations in squamous cell lung cancer associated with idiopathic pulmonary fibrosis. Hata A, etal., Int J Cancer. 2021 Jun 15;148(12):3008-3018. doi: 10.1002/ijc.33499. Epub 2021 Feb 19.
10. SETD2 histone modifier loss in aggressive GI stromal tumours. Huang KK, etal., Gut. 2016 Dec;65(12):1960-1972. doi: 10.1136/gutjnl-2015-309482. Epub 2015 Sep 3.
11. Whole-exome sequencing and immune profiling of early-stage lung adenocarcinoma with fully annotated clinical follow-up. Kadara H, etal., Ann Oncol. 2017 Jan 1;28(1):75-82. doi: 10.1093/annonc/mdw436.
12. LncRNA HOTAIR promotes human liver cancer stem cell malignant growth through downregulation of SETD2. Li H, etal., Oncotarget. 2015 Sep 29;6(29):27847-64. doi: 10.18632/oncotarget.4443.
13. A Systematic Approach to Defining the microRNA Landscape in Metastasis. Mudduluru G, etal., Cancer Res. 2015 Aug 1;75(15):3010-9. doi: 10.1158/0008-5472.CAN-15-0997. Epub 2015 Jun 11.
14. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
15. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
16. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
17. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
18. Type II enteropathy-associated T-cell lymphoma features a unique genomic profile with highly recurrent SETD2 alterations. Roberti A, etal., Nat Commun. 2016 Sep 7;7:12602. doi: 10.1038/ncomms12602.
19. Genomic profiling of the genes on chromosome 3p in sporadic clear cell renal cell carcinoma. Togo Y, etal., Int J Oncol. 2016 Apr;48(4):1571-80. doi: 10.3892/ijo.2016.3395. Epub 2016 Feb 17.
20. Systematic In Vivo Inactivation of Chromatin-Regulating Enzymes Identifies Setd2 as a Potent Tumor Suppressor in Lung Adenocarcinoma. Walter DM, etal., Cancer Res. 2017 Apr 1;77(7):1719-1729. doi: 10.1158/0008-5472.CAN-16-2159. Epub 2017 Feb 15.
21. SWI/SNF nucleosome remodellers and cancer. Wilson BG and Roberts CW, Nat Rev Cancer. 2011 Jun 9;11(7):481-92. doi: 10.1038/nrc3068.
22. High-density array-CGH with targeted NGS unmask multiple noncontiguous minute deletions on chromosome 3p21 in mesothelioma. Yoshikawa Y, etal., Proc Natl Acad Sci U S A. 2016 Nov 22;113(47):13432-13437. doi: 10.1073/pnas.1612074113. Epub 2016 Nov 9.
23. [Expression and clinical significance of SETD2 in maligant pleural mesothelioma]. Yu M, etal., Zhonghua Lao Dong Wei Sheng Zhi Ye Bing Za Zhi. 2021 Feb 20;39(2):91-98. doi: 10.3760/cma.j.cn121094-20200831-00505.
24. Histone methyltransferase SETD2 modulates alternative splicing to inhibit intestinal tumorigenesis. Yuan H, etal., J Clin Invest. 2017 Sep 1;127(9):3375-3391. doi: 10.1172/JCI94292. Epub 2017 Aug 21.
25. Histone methyltransferase SETD2 inhibits tumor growth via suppressing CXCL1-mediated activation of cell cycle in lung adenocarcinoma. Zhou Y, etal., Aging (Albany NY). 2020 Nov 20;12(24):25189-25206. doi: 10.18632/aging.104120. Epub 2020 Nov 20.
Additional References at PubMed
PMID:9700202   PMID:10958656   PMID:11042152   PMID:11214970   PMID:11461154   PMID:12477932   PMID:14702039   PMID:15302935   PMID:15489334   PMID:16118227   PMID:16314571   PMID:16344560  
PMID:16713569   PMID:17081983   PMID:17500595   PMID:18585004   PMID:18985028   PMID:19141475   PMID:19155214   PMID:19322201   PMID:19367581   PMID:19698110   PMID:20054297   PMID:20501857  
PMID:20944102   PMID:21282530   PMID:21653829   PMID:21873635   PMID:21988832   PMID:23043551   PMID:23065515   PMID:23325844   PMID:23417712   PMID:23602568   PMID:23620406   PMID:23622243  
PMID:23644518   PMID:23667531   PMID:24019522   PMID:24029645   PMID:24097068   PMID:24158655   PMID:24412394   PMID:24412544   PMID:24462114   PMID:24509477   PMID:24662245   PMID:24706662  
PMID:24843002   PMID:24852293   PMID:24901346   PMID:24931610   PMID:25077743   PMID:25528216   PMID:25714014   PMID:25728682   PMID:26002201   PMID:26084711   PMID:26186194   PMID:26344197  
PMID:26452128   PMID:26460568   PMID:26496610   PMID:26637798   PMID:26646321   PMID:26673895   PMID:27072194   PMID:27282254   PMID:27288695   PMID:27292023   PMID:27317772   PMID:27474439  
PMID:27505670   PMID:27518565   PMID:27528607   PMID:27528705   PMID:27614073   PMID:28122867   PMID:28256625   PMID:28319113   PMID:28373165   PMID:28408295   PMID:28424246   PMID:28498454  
PMID:28514442   PMID:28546430   PMID:28663576   PMID:28673974   PMID:28753426   PMID:28753773   PMID:28754676   PMID:28805822   PMID:29117863   PMID:29395067   PMID:29507755   PMID:29509190  
PMID:29656893   PMID:29681085   PMID:29724720   PMID:29777171   PMID:29842882   PMID:30021884   PMID:30093630   PMID:30181289   PMID:30406665   PMID:30419952   PMID:30487242   PMID:30660076  
PMID:30804502   PMID:30922329   PMID:30945288   PMID:31054182   PMID:31060750   PMID:31343991   PMID:31344256   PMID:31350389   PMID:31527615   PMID:31585917   PMID:31586073   PMID:31643139  
PMID:31697302   PMID:31753913   PMID:31856871   PMID:31911863   PMID:31988284   PMID:32202636   PMID:32416067   PMID:32513696   PMID:32619406   PMID:32626774   PMID:32694731   PMID:32710489  
PMID:32939018   PMID:32989298   PMID:33023640   PMID:33036756   PMID:33536335   PMID:33664260   PMID:33766796   PMID:33839039   PMID:33844099   PMID:33845483   PMID:33916271   PMID:33949020  
PMID:33961781   PMID:34020310   PMID:34074749   PMID:34079125   PMID:34157286   PMID:34162889   PMID:34244565   PMID:34349018   PMID:34391778   PMID:34650049   PMID:34672954   PMID:34978780  
PMID:35115713   PMID:35152527   PMID:35192890   PMID:35271311   PMID:35439318   PMID:35443279   PMID:35563538   PMID:35667440   PMID:35906200   PMID:35987950   PMID:36129980   PMID:36217030  
PMID:36253570   PMID:36260529   PMID:36359729   PMID:36373674   PMID:36453584   PMID:36463230   PMID:36502925   PMID:36537216   PMID:36537238   PMID:36607144   PMID:37154769   PMID:37166351  
PMID:37372360   PMID:37418588   PMID:37479966   PMID:37569676   PMID:37689310   PMID:37722039   PMID:37827155   PMID:37874744   PMID:37899647   PMID:37933774   PMID:37962020   PMID:37976977  
PMID:38280479   PMID:38359295   PMID:38580884   PMID:38697112   PMID:38843391   PMID:38859694  


Genomics

Comparative Map Data
SETD2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38347,016,436 - 47,164,840 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl347,016,428 - 47,164,113 (-)EnsemblGRCh38hg38GRCh38
GRCh37347,057,926 - 47,205,603 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36347,032,910 - 47,140,744 (-)NCBINCBI36Build 36hg18NCBI36
Celera346,996,415 - 47,143,855 (-)NCBICelera
Cytogenetic Map3p21.31NCBI
HuRef347,101,003 - 47,248,517 (-)NCBIHuRef
CHM1_1347,008,283 - 47,155,743 (-)NCBICHM1_1
T2T-CHM13v2.0347,032,799 - 47,180,480 (-)NCBIT2T-CHM13v2.0
Setd2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm399110,361,368 - 110,447,703 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl9110,358,262 - 110,447,701 (+)EnsemblGRCm39 Ensembl
GRCm389110,532,500 - 110,618,633 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl9110,532,597 - 110,618,633 (+)EnsemblGRCm38mm10GRCm38
MGSCv379110,435,101 - 110,521,137 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv369110,393,444 - 110,463,449 (+)NCBIMGSCv36mm8
Celera9110,275,024 - 110,348,565 (+)NCBICelera
Cytogenetic Map9F2NCBI
cM Map960.0NCBI
Setd2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr88119,390,207 - 119,475,863 (+)NCBIGRCr8
mRatBN7.28110,511,808 - 110,597,475 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl8110,511,772 - 110,597,489 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx8116,126,641 - 116,212,223 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.08114,325,835 - 114,411,418 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.08112,168,632 - 112,254,213 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.08118,802,478 - 118,888,224 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl8118,803,075 - 118,888,224 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.08118,163,197 - 118,229,411 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.48114,913,851 - 114,999,955 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.18114,953,667 - 115,019,393 (+)NCBI
Celera8109,796,476 - 109,881,676 (+)NCBICelera
Cytogenetic Map8q32NCBI
Setd2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495542025,090,798 - 25,177,760 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495542025,070,626 - 25,178,410 (+)NCBIChiLan1.0ChiLan1.0
SETD2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2246,972,766 - 47,120,166 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1346,977,530 - 47,124,822 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0346,916,615 - 47,064,046 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1348,017,856 - 48,164,007 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl348,018,517 - 48,163,999 (-)Ensemblpanpan1.1panPan2
SETD2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12041,675,539 - 41,800,697 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2041,675,599 - 41,800,612 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2041,591,796 - 41,716,953 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02042,158,289 - 42,283,519 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2042,158,169 - 42,283,502 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12041,400,062 - 41,525,212 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02041,801,303 - 41,926,169 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02042,081,936 - 42,207,122 (+)NCBIUU_Cfam_GSD_1.0
Setd2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405118201,246,801 - 201,349,701 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936596796,601 - 883,373 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936596795,940 - 898,823 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SETD2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1329,884,719 - 29,996,359 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11329,884,708 - 29,996,285 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21333,143,413 - 33,229,793 (-)NCBISscrofa10.2Sscrofa10.2susScr3
SETD2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1228,421,178 - 8,567,221 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl228,420,960 - 8,567,201 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666041158,577,714 - 158,728,031 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Setd2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462473074,187,995 - 74,277,200 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462473074,187,981 - 74,277,857 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in SETD2
1096 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_014159.7(SETD2):c.3422C>T (p.Pro1141Leu) single nucleotide variant Inborn genetic diseases [RCV004024333]|Luscan-Lumish syndrome [RCV000542349]|SETD2-related disorder [RCV004530568]|not provided [RCV001572972] Chr3:47121214 [GRCh38]
Chr3:47162704 [GRCh37]
Chr3:3p21.31		 benign|likely benign
NM_014159.7(SETD2):c.3682A>G (p.Ser1228Gly) single nucleotide variant not provided [RCV000520933] Chr3:47120954 [GRCh38]
Chr3:47162444 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.4344C>G (p.Ser1448=) single nucleotide variant Luscan-Lumish syndrome [RCV000555421] Chr3:47120292 [GRCh38]
Chr3:47161782 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.3390G>A (p.Lys1130=) single nucleotide variant Luscan-Lumish syndrome [RCV000527764] Chr3:47121246 [GRCh38]
Chr3:47162736 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.7060A>G (p.Thr2354Ala) single nucleotide variant Inborn genetic diseases [RCV002525326]|Luscan-Lumish syndrome [RCV000531325]|SETD2-related disorder [RCV004530572]|not provided [RCV001574059] Chr3:47046525 [GRCh38]
Chr3:47088015 [GRCh37]
Chr3:3p21.31		 benign|likely benign|uncertain significance
NM_014159.7(SETD2):c.4027C>A (p.Gln1343Lys) single nucleotide variant Luscan-Lumish syndrome [RCV000552337]|not provided [RCV000523619] Chr3:47120609 [GRCh38]
Chr3:47162099 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.2776A>G (p.Lys926Glu) single nucleotide variant Luscan-Lumish syndrome [RCV000543336] Chr3:47121860 [GRCh38]
Chr3:47163350 [GRCh37]
Chr3:3p21.31		 benign|uncertain significance
NM_014159.7(SETD2):c.475A>G (p.Thr159Ala) single nucleotide variant Luscan-Lumish syndrome [RCV000543934]|not provided [RCV003431117] Chr3:47124161 [GRCh38]
Chr3:47165651 [GRCh37]
Chr3:3p21.31		 benign|likely benign|uncertain significance
NM_014159.7(SETD2):c.3567C>T (p.Thr1189=) single nucleotide variant Luscan-Lumish syndrome [RCV000526282]|not provided [RCV001531388]|not specified [RCV001796122] Chr3:47121069 [GRCh38]
Chr3:47162559 [GRCh37]
Chr3:3p21.31		 benign|likely benign
NM_014159.7(SETD2):c.6241C>T (p.Leu2081Phe) single nucleotide variant Luscan-Lumish syndrome [RCV000528345]|not provided [RCV001770481] Chr3:47062215 [GRCh38]
Chr3:47103705 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.4059C>T (p.Ser1353=) single nucleotide variant Luscan-Lumish syndrome [RCV000530769]|SETD2-related disorder [RCV004737829]|not provided [RCV003431116] Chr3:47120577 [GRCh38]
Chr3:47162067 [GRCh37]
Chr3:3p21.31		 benign|likely benign
NM_014159.7(SETD2):c.2988A>G (p.Ser996=) single nucleotide variant Luscan-Lumish syndrome [RCV000531794]|not specified [RCV001821636] Chr3:47121648 [GRCh38]
Chr3:47163138 [GRCh37]
Chr3:3p21.31		 likely benign|uncertain significance
NM_014159.7(SETD2):c.7374A>G (p.Ala2458=) single nucleotide variant Luscan-Lumish syndrome [RCV000529849] Chr3:47019817 [GRCh38]
Chr3:47061307 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.3484C>T (p.His1162Tyr) single nucleotide variant Luscan-Lumish syndrome [RCV000548155]|not provided [RCV001707740]|not specified [RCV001821637] Chr3:47121152 [GRCh38]
Chr3:47162642 [GRCh37]
Chr3:3p21.31		 benign|likely benign|uncertain significance
NM_014159.7(SETD2):c.5369G>C (p.Arg1790Pro) single nucleotide variant Luscan-Lumish syndrome [RCV001053015]|not specified [RCV000122012] Chr3:47086223 [GRCh38]
Chr3:47127713 [GRCh37]
Chr3:3p21.31		 likely benign|uncertain significance|not provided
NM_014159.7(SETD2):c.5945A>G (p.Asp1982Gly) single nucleotide variant not specified [RCV000122013] Chr3:47083835 [GRCh38]
Chr3:47125325 [GRCh37]
Chr3:3p21.31		 not provided
NM_014159.7(SETD2):c.5885C>T (p.Pro1962Leu) single nucleotide variant Luscan-Lumish syndrome [RCV001511089]|not provided [RCV000713188]|not specified [RCV000122014] Chr3:47083895 [GRCh38]
Chr3:47083895..47083896 [GRCh38]
Chr3:47125385 [GRCh37]
Chr3:47125385..47125386 [GRCh37]
Chr3:3p21.31		 benign|not provided
NM_014159.7(SETD2):c.5812G>A (p.Val1938Ile) single nucleotide variant Luscan-Lumish syndrome [RCV000652619]|SETD2-related disorder [RCV004542916]|not specified [RCV000122015] Chr3:47083968 [GRCh38]
Chr3:47125458 [GRCh37]
Chr3:3p21.31		 benign|likely benign|uncertain significance|not provided
NM_014159.7(SETD2):c.5900G>A (p.Gly1967Asp) single nucleotide variant Inborn genetic diseases [RCV002514650]|Luscan-Lumish syndrome [RCV000652643]|SETD2-related disorder [RCV004530034]|not provided [RCV001719891]|not specified [RCV000122016] Chr3:47083880 [GRCh38]
Chr3:47125370 [GRCh37]
Chr3:3p21.31		 benign|likely benign|uncertain significance|not provided
NM_014159.7(SETD2):c.5633T>C (p.Phe1878Ser) single nucleotide variant Luscan-Lumish syndrome [RCV000557190]|not specified [RCV000122017] Chr3:47084147 [GRCh38]
Chr3:47125637 [GRCh37]
Chr3:3p21.31		 uncertain significance|not provided
NM_014159.7(SETD2):c.6269G>A (p.Arg2090Gln) single nucleotide variant not specified [RCV000122018] Chr3:47062187 [GRCh38]
Chr3:47103677 [GRCh37]
Chr3:3p21.31		 not provided
NM_014159.7(SETD2):c.6664C>T (p.Pro2222Ser) single nucleotide variant Luscan-Lumish syndrome [RCV001235272]|not specified [RCV000122019] Chr3:47057120 [GRCh38]
Chr3:47098610 [GRCh37]
Chr3:3p21.31		 uncertain significance|not provided
NM_014159.7(SETD2):c.7352C>T (p.Ala2451Val) single nucleotide variant not specified [RCV000122020] Chr3:47019839 [GRCh38]
Chr3:47061329 [GRCh37]
Chr3:3p21.31		 not provided
NM_014159.7(SETD2):c.1579A>G (p.Ile527Val) single nucleotide variant Luscan-Lumish syndrome [RCV000548869]|SETD2-related disorder [RCV004530035]|not specified [RCV000122021] Chr3:47123057 [GRCh38]
Chr3:47164547 [GRCh37]
Chr3:3p21.31		 likely benign|uncertain significance|not provided
NM_014159.7(SETD2):c.1687A>G (p.Ile563Val) single nucleotide variant Inborn genetic diseases [RCV004019694]|Luscan-Lumish syndrome [RCV000703226]|not provided [RCV004707991]|not specified [RCV000122022] Chr3:47122949 [GRCh38]
Chr3:47164439 [GRCh37]
Chr3:3p21.31		 benign|likely benign|uncertain significance|not provided
NM_014159.7(SETD2):c.2155A>G (p.Asn719Asp) single nucleotide variant Luscan-Lumish syndrome [RCV000652615]|SETD2-related disorder [RCV004542917]|not provided [RCV001705897]|not specified [RCV000122023] Chr3:47122481 [GRCh38]
Chr3:47163971 [GRCh37]
Chr3:3p21.31		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_014159.7(SETD2):c.2275A>G (p.Lys759Glu) single nucleotide variant not specified [RCV000122024] Chr3:47122361 [GRCh38]
Chr3:47163851 [GRCh37]
Chr3:3p21.31		 not provided
NM_014159.7(SETD2):c.2575A>T (p.Thr859Ser) single nucleotide variant not specified [RCV000122025] Chr3:47122061 [GRCh38]
Chr3:47163551 [GRCh37]
Chr3:3p21.31		 not provided
NM_014159.7(SETD2):c.2603A>G (p.Asp868Gly) single nucleotide variant Luscan-Lumish syndrome [RCV000945919]|SETD2-related disorder [RCV004542918]|not provided [RCV001573515]|not specified [RCV000122026] Chr3:47122033 [GRCh38]
Chr3:47163523 [GRCh37]
Chr3:3p21.31		 benign|likely benign|not provided
NM_014159.7(SETD2):c.3097A>G (p.Thr1033Ala) single nucleotide variant Luscan-Lumish syndrome [RCV000546373]|not provided [RCV003436935]|not specified [RCV000122027] Chr3:47121539 [GRCh38]
Chr3:47163029 [GRCh37]
Chr3:3p21.31		 benign|likely benign|not provided
NM_014159.7(SETD2):c.3136A>G (p.Asn1046Asp) single nucleotide variant Luscan-Lumish syndrome [RCV003591686]|SETD2-related disorder [RCV004528838]|not provided [RCV000713184]|not specified [RCV000122028] Chr3:47121500 [GRCh38]
Chr3:47162990 [GRCh37]
Chr3:3p21.31		 uncertain significance|not provided
NM_014159.7(SETD2):c.3229A>G (p.Thr1077Ala) single nucleotide variant Inborn genetic diseases [RCV004019695]|Luscan-Lumish syndrome [RCV000556656]|SETD2-related disorder [RCV004530036]|not provided [RCV001529297]|not specified [RCV000122029] Chr3:47121407 [GRCh38]
Chr3:47162897 [GRCh37]
Chr3:3p21.31		 benign|likely benign|not provided
NM_014159.7(SETD2):c.784A>C (p.Ser262Arg) single nucleotide variant not specified [RCV000122030] Chr3:47123852 [GRCh38]
Chr3:47165342 [GRCh37]
Chr3:3p21.31		 not provided
NM_014159.7(SETD2):c.1775C>A (p.Thr592Lys) single nucleotide variant Luscan-Lumish syndrome [RCV000547348]|SETD2-related disorder [RCV004530037]|not provided [RCV003436936]|not specified [RCV000122031] Chr3:47122861 [GRCh38]
Chr3:47164351 [GRCh37]
Chr3:3p21.31		 benign|likely benign|not provided
NM_014159.7(SETD2):c.2251C>A (p.Pro751Thr) single nucleotide variant Luscan-Lumish syndrome [RCV001087250]|not provided [RCV000428574]|not specified [RCV000122032] Chr3:47122385 [GRCh38]
Chr3:47163875 [GRCh37]
Chr3:3p21.31		 likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_014159.7(SETD2):c.2543C>T (p.Ala848Val) single nucleotide variant Luscan-Lumish syndrome [RCV001083376]|not provided [RCV000514303]|not specified [RCV000122033] Chr3:47122093 [GRCh38]
Chr3:47163583 [GRCh37]
Chr3:3p21.31		 benign|likely benign|not provided
NM_014159.7(SETD2):c.2783C>G (p.Thr928Arg) single nucleotide variant Luscan-Lumish syndrome [RCV000557803]|not provided [RCV001675629]|not specified [RCV000122034] Chr3:47121853 [GRCh38]
Chr3:47163343 [GRCh37]
Chr3:3p21.31		 benign|likely benign|not provided
NM_014159.7(SETD2):c.310C>A (p.Pro104Thr) single nucleotide variant Luscan-Lumish syndrome [RCV001458230]|not specified [RCV000122035] Chr3:47124326 [GRCh38]
Chr3:47165816 [GRCh37]
Chr3:3p21.31		 likely benign|not provided
NM_014159.7(SETD2):c.557C>T (p.Pro186Leu) single nucleotide variant Luscan-Lumish syndrome [RCV001079271]|SETD2-related disorder [RCV004542919]|not provided [RCV000713187]|not specified [RCV000122036] Chr3:47124079 [GRCh38]
Chr3:47165569 [GRCh37]
Chr3:3p21.31		 benign|likely benign|not provided
NM_014159.7(SETD2):c.1343G>A (p.Arg448Gln) single nucleotide variant Luscan-Lumish syndrome [RCV002467576]|not provided [RCV000713181]|not specified [RCV000122037] Chr3:47123293 [GRCh38]
Chr3:47164783 [GRCh37]
Chr3:3p21.31		 uncertain significance|not provided
NM_014159.7(SETD2):c.227G>C (p.Ser76Thr) single nucleotide variant not specified [RCV000122038] Chr3:47124409 [GRCh38]
Chr3:47165899 [GRCh37]
Chr3:3p21.31		 not provided
NM_014159.7(SETD2):c.2283G>A (p.Met761Ile) single nucleotide variant Luscan-Lumish syndrome [RCV000954427]|not specified [RCV000122039] Chr3:47122353 [GRCh38]
Chr3:47163843 [GRCh37]
Chr3:3p21.31		 likely benign|not provided
NM_014159.7(SETD2):c.2302G>C (p.Val768Leu) single nucleotide variant Luscan-Lumish syndrome [RCV001080516]|SETD2-related disorder [RCV004530038]|not provided [RCV000713182]|not specified [RCV000122040] Chr3:47122334 [GRCh38]
Chr3:47163824 [GRCh37]
Chr3:3p21.31		 benign|likely benign|not provided
NM_014159.7(SETD2):c.2632G>C (p.Gly878Arg) single nucleotide variant not specified [RCV000122041] Chr3:47122004 [GRCh38]
Chr3:47163494 [GRCh37]
Chr3:3p21.31		 not provided
NM_014159.7(SETD2):c.2704G>C (p.Glu902Gln) single nucleotide variant Luscan-Lumish syndrome [RCV000553714]|not provided [RCV001668277]|not specified [RCV000122042] Chr3:47121932 [GRCh38]
Chr3:47163422 [GRCh37]
Chr3:3p21.31		 benign|not provided
NM_014159.7(SETD2):c.2794G>A (p.Val932Ile) single nucleotide variant Luscan-Lumish syndrome [RCV000695488]|not specified [RCV000122043] Chr3:47121842 [GRCh38]
Chr3:47163332 [GRCh37]
Chr3:3p21.31		 benign|uncertain significance|not provided
NM_014159.7(SETD2):c.2824G>A (p.Gly942Arg) single nucleotide variant not specified [RCV000122044] Chr3:47121812 [GRCh38]
Chr3:47163302 [GRCh37]
Chr3:3p21.31		 not provided
NM_014159.7(SETD2):c.3131G>A (p.Ser1044Asn) single nucleotide variant Luscan-Lumish syndrome [RCV000804532]|not specified [RCV000122045] Chr3:47121505 [GRCh38]
Chr3:47162995 [GRCh37]
Chr3:3p21.31		 uncertain significance|not provided
NM_014159.7(SETD2):c.3142G>A (p.Glu1048Lys) single nucleotide variant not specified [RCV000122046] Chr3:47121494 [GRCh38]
Chr3:47162984 [GRCh37]
Chr3:3p21.31		 not provided
NM_014159.7(SETD2):c.3240G>A (p.Met1080Ile) single nucleotide variant Luscan-Lumish syndrome [RCV001518643]|not provided [RCV001610430]|not specified [RCV000122047] Chr3:47121396 [GRCh38]
Chr3:47162886 [GRCh37]
Chr3:3p21.31		 benign|not provided
NM_014159.7(SETD2):c.2297T>C (p.Met766Thr) single nucleotide variant not specified [RCV000122048] Chr3:47122339 [GRCh38]
Chr3:47163829 [GRCh37]
Chr3:3p21.31		 not provided
NM_014159.7(SETD2):c.2450T>C (p.Met817Thr) single nucleotide variant Luscan-Lumish syndrome [RCV000652629]|SETD2-related disorder [RCV004542920]|not specified [RCV000122049] Chr3:47122186 [GRCh38]
Chr3:47163676 [GRCh37]
Chr3:3p21.31		 benign|likely benign|uncertain significance|not provided
NM_014159.7(SETD2):c.2713T>C (p.Ser905Pro) single nucleotide variant not specified [RCV000122050] Chr3:47121923 [GRCh38]
Chr3:47163413 [GRCh37]
Chr3:3p21.31		 not provided
NM_014159.7(SETD2):c.4193T>C (p.Ile1398Thr) single nucleotide variant Luscan-Lumish syndrome [RCV000960671]|not provided [RCV003436937]|not specified [RCV000122051] Chr3:47120443 [GRCh38]
Chr3:47161933 [GRCh37]
Chr3:3p21.31		 benign|likely benign|not provided
NM_014159.7(SETD2):c.4262T>C (p.Leu1421Pro) single nucleotide variant Inborn genetic diseases [RCV003352775]|not specified [RCV000122052] Chr3:47120374 [GRCh38]
Chr3:47161864 [GRCh37]
Chr3:3p21.31		 likely benign|not provided
NM_014159.7(SETD2):c.4526G>A (p.Arg1509Lys) single nucleotide variant not specified [RCV000122053] Chr3:47116683 [GRCh38]
Chr3:47158173 [GRCh37]
Chr3:3p21.31		 not provided
NM_014159.7(SETD2):c.4972T>G (p.Ser1658Ala) single nucleotide variant not specified [RCV000122054] Chr3:47101501 [GRCh38]
Chr3:47142991 [GRCh37]
Chr3:3p21.31		 not provided
NM_014159.7(SETD2):c.4839+332G>T single nucleotide variant not specified [RCV000119881] Chr3:47105665 [GRCh38]
Chr3:47147155 [GRCh37]
Chr3:3p21.31		 not provided
NM_014159.7(SETD2):c.4839+278C>T single nucleotide variant not specified [RCV000119882] Chr3:47105719 [GRCh38]
Chr3:47147209 [GRCh37]
Chr3:3p21.31		 not provided
GRCh38/hg38 3p21.31-21.2(chr3:45879883-50749922)x4 copy number gain See cases [RCV000133650] Chr3:45879883..50749922 [GRCh38]
Chr3:45921375..50787353 [GRCh37]
Chr3:45896379..50762357 [NCBI36]
Chr3:3p21.31-21.2		 pathogenic
NM_014159.7(SETD2):c.1321C>T (p.Arg441Ter) single nucleotide variant Acute megakaryoblastic leukemia without down syndrome [RCV001293749] Chr3:47123315 [GRCh38]
Chr3:47164805 [GRCh37]
Chr3:3p21.31		 likely pathogenic
NM_014159.7(SETD2):c.4451A>T (p.Glu1484Val) single nucleotide variant Luscan-Lumish syndrome [RCV001333725] Chr3:47120185 [GRCh38]
Chr3:47161675 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.3918G>A (p.Trp1306Ter) single nucleotide variant Acute megakaryoblastic leukemia without down syndrome [RCV001293748] Chr3:47120718 [GRCh38]
Chr3:47162208 [GRCh37]
Chr3:3p21.31		 likely pathogenic
NM_014159.7(SETD2):c.209G>A (p.Arg70Gln) single nucleotide variant Luscan-Lumish syndrome [RCV001312334]|not provided [RCV002245959] Chr3:47124427 [GRCh38]
Chr3:47165917 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.4180G>T (p.Glu1394Ter) single nucleotide variant Intellectual disability [RCV001526563] Chr3:47120456 [GRCh38]
Chr3:47161946 [GRCh37]
Chr3:3p21.31		 pathogenic
NM_014159.7(SETD2):c.7164C>T (p.Thr2388=) single nucleotide variant Luscan-Lumish syndrome [RCV001084689]|not provided [RCV000762111] Chr3:47042635 [GRCh38]
Chr3:47084125 [GRCh37]
Chr3:3p21.31		 benign|likely benign
NM_014159.7(SETD2):c.500C>T (p.Pro167Leu) single nucleotide variant Luscan-Lumish syndrome [RCV000543864]|SETD2-related disorder [RCV004530570]|not provided [RCV001653924] Chr3:47124136 [GRCh38]
Chr3:47165626 [GRCh37]
Chr3:3p21.31		 benign|likely benign|uncertain significance
NM_014159.7(SETD2):c.6341del (p.Asn2114fs) deletion Luscan-Lumish syndrome [RCV000208546] Chr3:47057443 [GRCh38]
Chr3:47098933 [GRCh37]
Chr3:3p21.31		 pathogenic
NM_014159.7(SETD2):c.2028del (p.Pro677fs) deletion Luscan-Lumish syndrome [RCV000208551] Chr3:47122608 [GRCh38]
Chr3:47164098 [GRCh37]
Chr3:3p21.31		 pathogenic
NM_014159.7(SETD2):c.5444T>G (p.Leu1815Trp) single nucleotide variant Luscan-Lumish syndrome [RCV000208561] Chr3:47084336 [GRCh38]
Chr3:47125826 [GRCh37]
Chr3:3p21.31		 pathogenic
NM_014159.7(SETD2):c.820C>T (p.Gln274Ter) single nucleotide variant Luscan-Lumish syndrome [RCV000208536] Chr3:47123816 [GRCh38]
Chr3:47165306 [GRCh37]
Chr3:3p21.31		 pathogenic
NM_014159.7(SETD2):c.1706T>G (p.Phe569Cys) single nucleotide variant Luscan-Lumish syndrome [RCV001042993] Chr3:47122930 [GRCh38]
Chr3:47164420 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.4483A>C (p.Lys1495Gln) single nucleotide variant not provided [RCV000521630] Chr3:47116726 [GRCh38]
Chr3:47158216 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.2798G>T (p.Gly933Val) single nucleotide variant Inborn genetic diseases [RCV004026825]|Luscan-Lumish syndrome [RCV001088547]|SETD2-related disorder [RCV004544960]|not provided [RCV000713183]|not specified [RCV001816744] Chr3:47121838 [GRCh38]
Chr3:47163328 [GRCh37]
Chr3:3p21.31		 benign|likely benign
NM_014159.7(SETD2):c.336G>A (p.Ser112=) single nucleotide variant Luscan-Lumish syndrome [RCV000549376] Chr3:47124300 [GRCh38]
Chr3:47165790 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.799G>A (p.Val267Ile) single nucleotide variant Luscan-Lumish syndrome [RCV000544755] Chr3:47123837 [GRCh38]
Chr3:47165327 [GRCh37]
Chr3:3p21.31		 benign|uncertain significance
NM_014159.7(SETD2):c.590C>T (p.Ala197Val) single nucleotide variant Luscan-Lumish syndrome [RCV000524972]|not provided [RCV001597172] Chr3:47124046 [GRCh38]
Chr3:47165536 [GRCh37]
Chr3:3p21.31		 benign|likely benign|uncertain significance
NM_014159.7(SETD2):c.6293+4dup duplication Luscan-Lumish syndrome [RCV001494271]|not specified [RCV000606171] Chr3:47062158..47062159 [GRCh38]
Chr3:47103648..47103649 [GRCh37]
Chr3:3p21.31		 likely benign
GRCh37/hg19 3p22.2-21.31(chr3:37028313-49929220)x3 copy number gain See cases [RCV000240519] Chr3:37028313..49929220 [GRCh37]
Chr3:3p22.2-21.31		 likely pathogenic
NM_014159.7(SETD2):c.1610T>G (p.Leu537Arg) single nucleotide variant Luscan-Lumish syndrome [RCV000526963] Chr3:47123026 [GRCh38]
Chr3:47164516 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.6780G>A (p.Pro2260=) single nucleotide variant Luscan-Lumish syndrome [RCV000552929] Chr3:47057004 [GRCh38]
Chr3:47098494 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.3309T>C (p.Asp1103=) single nucleotide variant Luscan-Lumish syndrome [RCV000549725] Chr3:47121327 [GRCh38]
Chr3:47162817 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.1928A>G (p.His643Arg) single nucleotide variant Luscan-Lumish syndrome [RCV000525794]|not provided [RCV003139855] Chr3:47122708 [GRCh38]
Chr3:47164198 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.889A>G (p.Lys297Glu) single nucleotide variant not provided [RCV003314192] Chr3:47123747 [GRCh38]
Chr3:47165237 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.881A>T (p.Asp294Val) single nucleotide variant Inborn genetic diseases [RCV002528254]|not provided [RCV000520190] Chr3:47123755 [GRCh38]
Chr3:47165245 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.3723T>G (p.Cys1241Trp) single nucleotide variant Luscan-Lumish syndrome [RCV001367596] Chr3:47120913 [GRCh38]
Chr3:47162403 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.3946A>C (p.Thr1316Pro) single nucleotide variant not provided [RCV003314816] Chr3:47120690 [GRCh38]
Chr3:47162180 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.19C>T (p.Gln7Ter) single nucleotide variant Inborn genetic diseases [RCV000623624]|Luscan-Lumish syndrome [RCV000652616]|SETD2-related disorder [RCV004533296]|not provided [RCV003139952]|not specified [RCV001193986] Chr3:47163906 [GRCh38]
Chr3:47205396 [GRCh37]
Chr3:3p21.31		 pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_014159.7(SETD2):c.578C>T (p.Pro193Leu) single nucleotide variant Luscan-Lumish syndrome [RCV000550253]|SETD2-related disorder [RCV004543233]|not provided [RCV004584751] Chr3:47124058 [GRCh38]
Chr3:47165548 [GRCh37]
Chr3:3p21.31		 benign
NM_014159.7(SETD2):c.4487G>A (p.Arg1496Gln) single nucleotide variant Luscan-Lumish syndrome [RCV000529316]|not provided [RCV003233745] Chr3:47116722 [GRCh38]
Chr3:47158212 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.5398-13T>A single nucleotide variant not provided [RCV000578811] Chr3:47084395 [GRCh38]
Chr3:47125885 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.664C>A (p.Leu222Ile) single nucleotide variant Luscan-Lumish syndrome [RCV000526824]|Luscan-Lumish syndrome [RCV003224336]|SETD2-related disorder [RCV004543235] Chr3:47123972 [GRCh38]
Chr3:47165462 [GRCh37]
Chr3:3p21.31		 benign|likely benign|uncertain significance
NM_014159.7(SETD2):c.6173A>G (p.Asn2058Ser) single nucleotide variant Inborn genetic diseases [RCV002525324]|Luscan-Lumish syndrome [RCV000549903]|SETD2-related disorder [RCV004543234]|not provided [RCV001692196] Chr3:47062283 [GRCh38]
Chr3:47103773 [GRCh37]
Chr3:3p21.31		 benign|likely benign
GRCh37/hg19 3p21.31(chr3:47069054-47468261)x3 copy number gain See cases [RCV000598871] Chr3:47069054..47468261 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.2730A>G (p.Ala910=) single nucleotide variant Luscan-Lumish syndrome [RCV000532989]|SETD2-related disorder [RCV004543232] Chr3:47121906 [GRCh38]
Chr3:47163396 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.6963+5C>G single nucleotide variant not specified [RCV000599672] Chr3:47056816 [GRCh38]
Chr3:47098306 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.5143-1G>A single nucleotide variant Wee1 Inhibitor response [RCV000626444] Chr3:47088248 [GRCh38]
Chr3:47129738 [GRCh37]
Chr3:3p21.31		 drug response
NM_014159.7(SETD2):c.4376G>A (p.Arg1459Gln) single nucleotide variant Luscan-Lumish syndrome [RCV001064806]|not provided [RCV004696908]|not specified [RCV000414404] Chr3:47120260 [GRCh38]
Chr3:47161750 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.5505T>C (p.Pro1835=) single nucleotide variant Luscan-Lumish syndrome [RCV000536859] Chr3:47084275 [GRCh38]
Chr3:47125765 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.6109A>G (p.Thr2037Ala) single nucleotide variant Luscan-Lumish syndrome [RCV000539835]|SETD2-related disorder [RCV004737830] Chr3:47067070 [GRCh38]
Chr3:47108560 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.2702G>C (p.Gly901Ala) single nucleotide variant Luscan-Lumish syndrome [RCV000538802]|not provided [RCV002285365] Chr3:47121934 [GRCh38]
Chr3:47163424 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.5666T>C (p.Met1889Thr) single nucleotide variant Inborn genetic diseases [RCV002527913]|Luscan-Lumish syndrome [RCV000535367]|SETD2-related disorder [RCV004530571]|not provided [RCV003992326] Chr3:47084114 [GRCh38]
Chr3:47125604 [GRCh37]
Chr3:3p21.31		 benign|likely benign
NM_014159.7(SETD2):c.6686T>G (p.Val2229Gly) single nucleotide variant Luscan-Lumish syndrome [RCV000541716]|not provided [RCV001574013]|not specified [RCV001727762] Chr3:47057098 [GRCh38]
Chr3:47098588 [GRCh37]
Chr3:3p21.31		 benign|likely benign
NM_014159.7(SETD2):c.4774C>T (p.Arg1592Ter) single nucleotide variant not provided [RCV000412789] Chr3:47106062 [GRCh38]
Chr3:47147552 [GRCh37]
Chr3:3p21.31		 pathogenic
NM_014159.7(SETD2):c.335C>T (p.Ser112Leu) single nucleotide variant Luscan-Lumish syndrome [RCV000560831]|SETD2-related disorder [RCV004737828] Chr3:47124301 [GRCh38]
Chr3:47165791 [GRCh37]
Chr3:3p21.31		 benign|uncertain significance
NM_014159.7(SETD2):c.5218C>T (p.Arg1740Trp) single nucleotide variant Congenital cerebellar hypoplasia [RCV001258009]|Corpus callosum, agenesis of [RCV000779643]|Inborn genetic diseases [RCV001267453]|Luscan-Lumish syndrome [RCV000853394]|Rabin-Pappas syndrome [RCV002467447]|SETD2 associated neurodevelopmental disorder with multiple congenital anomalies [RCV004554776]|SETD2-related disorder [RCV001267684]|not provided [RCV000426759] Chr3:47088172 [GRCh38]
Chr3:47129662 [GRCh37]
Chr3:3p21.31		 pathogenic|likely pathogenic|uncertain significance
NM_014159.7(SETD2):c.6614A>G (p.His2205Arg) single nucleotide variant Luscan-Lumish syndrome [RCV000553274] Chr3:47057170 [GRCh38]
Chr3:47098660 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.2742_2743dup (p.Lys915fs) duplication not provided [RCV000481244] Chr3:47121892..47121893 [GRCh38]
Chr3:47163382..47163383 [GRCh37]
Chr3:3p21.31		 pathogenic
NM_014159.7(SETD2):c.7534-1G>T single nucleotide variant not provided [RCV000483102] Chr3:47017255 [GRCh38]
Chr3:47058745 [GRCh37]
Chr3:3p21.31		 likely pathogenic
NM_014159.7(SETD2):c.1145A>T (p.Lys382Ile) single nucleotide variant not provided [RCV000481870] Chr3:47123491 [GRCh38]
Chr3:47164981 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.4847A>T (p.Asp1616Val) single nucleotide variant not provided [RCV000478163] Chr3:47103416 [GRCh38]
Chr3:47144906 [GRCh37]
Chr3:3p21.31		 likely pathogenic
NM_014159.7(SETD2):c.4918-78AC[17] microsatellite not provided [RCV001597149]|not specified [RCV000501522] Chr3:47101598..47101599 [GRCh38]
Chr3:47143088..47143089 [GRCh37]
Chr3:3p21.31		 benign|likely benign
NM_014159.7(SETD2):c.6110-27_6110-26del deletion Luscan-Lumish syndrome [RCV002270595]|not provided [RCV001683530]|not specified [RCV000503779] Chr3:47062372..47062373 [GRCh38]
Chr3:47103862..47103863 [GRCh37]
Chr3:3p21.31		 benign|likely benign
NM_014159.7(SETD2):c.5268A>G (p.Glu1756=) single nucleotide variant not specified [RCV000500072] Chr3:47088122 [GRCh38]
Chr3:47129612 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.3890G>A (p.Arg1297His) single nucleotide variant not specified [RCV000500212] Chr3:47120746 [GRCh38]
Chr3:47162236 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.3465T>C (p.Asn1155=) single nucleotide variant Luscan-Lumish syndrome [RCV001511090]|not provided [RCV000713185] Chr3:47121171 [GRCh38]
Chr3:47162661 [GRCh37]
Chr3:3p21.31		 benign
NM_014159.7(SETD2):c.4989G>A (p.Thr1663=) single nucleotide variant Luscan-Lumish syndrome [RCV000533516] Chr3:47101484 [GRCh38]
Chr3:47142974 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.7284T>C (p.Asp2428=) single nucleotide variant Luscan-Lumish syndrome [RCV000556212] Chr3:47037732 [GRCh38]
Chr3:47079222 [GRCh37]
Chr3:3p21.31		 benign
NM_014159.7(SETD2):c.2299A>G (p.Thr767Ala) single nucleotide variant Luscan-Lumish syndrome [RCV000556353] Chr3:47122337 [GRCh38]
Chr3:47163827 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.4872T>A (p.Ser1624=) single nucleotide variant Luscan-Lumish syndrome [RCV001081691]|SETD2-related disorder [RCV004530569]|not provided [RCV000558747] Chr3:47103391 [GRCh38]
Chr3:47144881 [GRCh37]
Chr3:3p21.31		 benign|likely benign
NM_014159.7(SETD2):c.2515A>G (p.Arg839Gly) single nucleotide variant Luscan-Lumish syndrome [RCV000540302] Chr3:47122121 [GRCh38]
Chr3:47163611 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.3582A>G (p.Ile1194Met) single nucleotide variant Luscan-Lumish syndrome [RCV000541147] Chr3:47121054 [GRCh38]
Chr3:47162544 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.3506A>G (p.Asp1169Gly) single nucleotide variant Inborn genetic diseases [RCV000623718]|Luscan-Lumish syndrome [RCV001860443] Chr3:47121130 [GRCh38]
Chr3:47162620 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.4327G>T (p.Ala1443Ser) single nucleotide variant not provided [RCV003312578] Chr3:47120309 [GRCh38]
Chr3:47161799 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.2040A>G (p.Glu680=) single nucleotide variant Luscan-Lumish syndrome [RCV000541508]|SETD2-related disorder [RCV004543231] Chr3:47122596 [GRCh38]
Chr3:47164086 [GRCh37]
Chr3:3p21.31		 likely benign
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3 copy number gain See cases [RCV000511055] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
NM_014159.7(SETD2):c.3361G>A (p.Ala1121Thr) single nucleotide variant Luscan-Lumish syndrome [RCV000534747]|not provided [RCV003884638] Chr3:47121275 [GRCh38]
Chr3:47162765 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.6(SETD2):c.4457_4460del microsatellite Inborn genetic diseases [RCV000624082]|not provided [RCV003322797] Chr3:47116749..47116752 [GRCh38]
Chr3:47158239..47158242 [GRCh37]
Chr3:3p21.31		 pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986) copy number gain See cases [RCV000512358] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
NM_014159.7(SETD2):c.26C>T (p.Pro9Leu) single nucleotide variant Luscan-Lumish syndrome [RCV000533340] Chr3:47163899 [GRCh38]
Chr3:47205389 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.6445C>A (p.Pro2149Thr) single nucleotide variant not provided [RCV003318076] Chr3:47057339 [GRCh38]
Chr3:47098829 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.4320A>T (p.Pro1440=) single nucleotide variant Luscan-Lumish syndrome [RCV000540841]|not provided [RCV001548205]|not specified [RCV001287945] Chr3:47120316 [GRCh38]
Chr3:47161806 [GRCh37]
Chr3:3p21.31		 benign|likely benign
NM_014159.7(SETD2):c.3860A>C (p.Gln1287Pro) single nucleotide variant Inborn genetic diseases [RCV000624575]|Luscan-Lumish syndrome [RCV001218688] Chr3:47120776 [GRCh38]
Chr3:47162266 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.1734A>T (p.Leu578Phe) single nucleotide variant Inborn genetic diseases [RCV004024332]|Luscan-Lumish syndrome [RCV000537310]|not provided [RCV001644663] Chr3:47122902 [GRCh38]
Chr3:47164392 [GRCh37]
Chr3:3p21.31		 benign|likely benign
NM_014159.7(SETD2):c.6455A>G (p.Tyr2152Cys) single nucleotide variant Inborn genetic diseases [RCV002525325]|Luscan-Lumish syndrome [RCV000538363]|not provided [RCV001726241] Chr3:47057329 [GRCh38]
Chr3:47098819 [GRCh37]
Chr3:3p21.31		 benign|likely benign|uncertain significance
NM_014159.7(SETD2):c.3249A>C (p.Thr1083=) single nucleotide variant Luscan-Lumish syndrome [RCV000534829]|not provided [RCV001549972]|not specified [RCV001287944] Chr3:47121387 [GRCh38]
Chr3:47162877 [GRCh37]
Chr3:3p21.31		 benign|likely benign
NM_014159.7(SETD2):c.6224G>C (p.Arg2075Thr) single nucleotide variant Inborn genetic diseases [RCV003295064] Chr3:47062232 [GRCh38]
Chr3:47103722 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.5230A>G (p.Arg1744Gly) single nucleotide variant Luscan-Lumish syndrome [RCV003315135] Chr3:47088160 [GRCh38]
Chr3:47129650 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.5271C>T (p.Leu1757=) single nucleotide variant Luscan-Lumish syndrome [RCV000558394]|not provided [RCV001712525] Chr3:47088119 [GRCh38]
Chr3:47129609 [GRCh37]
Chr3:3p21.31		 benign|likely benign
NM_014159.7(SETD2):c.1847C>G (p.Ala616Gly) single nucleotide variant Inborn genetic diseases [RCV003273917] Chr3:47122789 [GRCh38]
Chr3:47164279 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.2959G>A (p.Gly987Arg) single nucleotide variant Luscan-Lumish syndrome [RCV000652614] Chr3:47121677 [GRCh38]
Chr3:47163167 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.676C>G (p.Pro226Ala) single nucleotide variant Luscan-Lumish syndrome [RCV000652613] Chr3:47123960 [GRCh38]
Chr3:47165450 [GRCh37]
Chr3:3p21.31		 likely benign|uncertain significance
NM_014159.7(SETD2):c.538T>G (p.Ser180Ala) single nucleotide variant Luscan-Lumish syndrome [RCV000652625]|SETD2-related disorder [RCV004533418] Chr3:47124098 [GRCh38]
Chr3:47165588 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.6119G>C (p.Arg2040Pro) single nucleotide variant Luscan-Lumish syndrome [RCV000652626] Chr3:47062337 [GRCh38]
Chr3:47103827 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.2647C>T (p.Leu883Phe) single nucleotide variant Luscan-Lumish syndrome [RCV000652627] Chr3:47121989 [GRCh38]
Chr3:47163479 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.148G>A (p.Ala50Thr) single nucleotide variant Luscan-Lumish syndrome [RCV000652628]|SETD2-related disorder [RCV004533419] Chr3:47124488 [GRCh38]
Chr3:47165978 [GRCh37]
Chr3:3p21.31		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_014159.7(SETD2):c.4093G>A (p.Gly1365Arg) single nucleotide variant Luscan-Lumish syndrome [RCV000652630]|not provided [RCV003233794] Chr3:47120543 [GRCh38]
Chr3:47162033 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.2224T>G (p.Ser742Ala) single nucleotide variant Luscan-Lumish syndrome [RCV000652611] Chr3:47122412 [GRCh38]
Chr3:47163902 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.4121G>A (p.Ser1374Asn) single nucleotide variant Luscan-Lumish syndrome [RCV000652610] Chr3:47120515 [GRCh38]
Chr3:47162005 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.5870A>G (p.Asp1957Gly) single nucleotide variant Luscan-Lumish syndrome [RCV000652624] Chr3:47083910 [GRCh38]
Chr3:47125400 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.1885A>G (p.Lys629Glu) single nucleotide variant Luscan-Lumish syndrome [RCV000652623]|SETD2-related disorder [RCV004533417]|not provided [RCV001719158]|not specified [RCV001816638] Chr3:47122751 [GRCh38]
Chr3:47164241 [GRCh37]
Chr3:3p21.31		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_014159.7(SETD2):c.2942T>C (p.Leu981Ser) single nucleotide variant Luscan-Lumish syndrome [RCV000652622] Chr3:47121694 [GRCh38]
Chr3:47163184 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.1477C>T (p.Arg493Trp) single nucleotide variant Luscan-Lumish syndrome [RCV000652621]|not provided [RCV004568463] Chr3:47123159 [GRCh38]
Chr3:47164649 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.4928A>G (p.Asn1643Ser) single nucleotide variant Luscan-Lumish syndrome [RCV000652620] Chr3:47101545 [GRCh38]
Chr3:47143035 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.5942A>G (p.Gln1981Arg) single nucleotide variant Luscan-Lumish syndrome [RCV000652618] Chr3:47083838 [GRCh38]
Chr3:47125328 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.2822A>G (p.Lys941Arg) single nucleotide variant Luscan-Lumish syndrome [RCV000652617]|not provided [RCV004568462] Chr3:47121814 [GRCh38]
Chr3:47163304 [GRCh37]
Chr3:3p21.31		 likely benign|uncertain significance
NM_014159.7(SETD2):c.2712A>G (p.Thr904=) single nucleotide variant Luscan-Lumish syndrome [RCV000652631] Chr3:47121924 [GRCh38]
Chr3:47163414 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.4011A>G (p.Glu1337=) single nucleotide variant Luscan-Lumish syndrome [RCV000652632]|not provided [RCV001756102] Chr3:47120625 [GRCh38]
Chr3:47162115 [GRCh37]
Chr3:3p21.31		 benign
NM_014159.7(SETD2):c.985C>A (p.Arg329=) single nucleotide variant Luscan-Lumish syndrome [RCV000652633]|not provided [RCV003432707] Chr3:47123651 [GRCh38]
Chr3:47165141 [GRCh37]
Chr3:3p21.31		 benign|likely benign
NM_014159.7(SETD2):c.558G>A (p.Pro186=) single nucleotide variant Luscan-Lumish syndrome [RCV000652634]|not provided [RCV003437384] Chr3:47124078 [GRCh38]
Chr3:47165568 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.5217C>T (p.Ser1739=) single nucleotide variant Luscan-Lumish syndrome [RCV000652635] Chr3:47088173 [GRCh38]
Chr3:47129663 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.6009G>A (p.Val2003=) single nucleotide variant Luscan-Lumish syndrome [RCV000652636]|SETD2-related disorder [RCV004533420]|not provided [RCV004708982] Chr3:47083771 [GRCh38]
Chr3:47125261 [GRCh37]
Chr3:3p21.31		 benign|likely benign
NM_014159.7(SETD2):c.561C>G (p.Pro187=) single nucleotide variant Luscan-Lumish syndrome [RCV001475534] Chr3:47124075 [GRCh38]
Chr3:47165565 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.3282T>C (p.Tyr1094=) single nucleotide variant Luscan-Lumish syndrome [RCV000652638] Chr3:47121354 [GRCh38]
Chr3:47162844 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.5364C>T (p.Asp1788=) single nucleotide variant Luscan-Lumish syndrome [RCV000652639]|SETD2-related disorder [RCV004533421] Chr3:47086228 [GRCh38]
Chr3:47127718 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.5682T>C (p.Ser1894=) single nucleotide variant Luscan-Lumish syndrome [RCV000652640] Chr3:47084098 [GRCh38]
Chr3:47125588 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.2610A>G (p.Leu870=) single nucleotide variant Luscan-Lumish syndrome [RCV000652642] Chr3:47122026 [GRCh38]
Chr3:47163516 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.2730A>T (p.Ala910=) single nucleotide variant Luscan-Lumish syndrome [RCV000652644] Chr3:47121906 [GRCh38]
Chr3:47163396 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.6885A>G (p.Ile2295Met) single nucleotide variant Luscan-Lumish syndrome [RCV000652645]|not provided [RCV004711281] Chr3:47056899 [GRCh38]
Chr3:47098389 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.3897C>T (p.Tyr1299=) single nucleotide variant Luscan-Lumish syndrome [RCV000652646]|SETD2-related disorder [RCV004544905] Chr3:47120739 [GRCh38]
Chr3:47162229 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.7068T>C (p.Val2356=) single nucleotide variant Luscan-Lumish syndrome [RCV000652648] Chr3:47046517 [GRCh38]
Chr3:47088007 [GRCh37]
Chr3:3p21.31		 benign
NM_014159.7(SETD2):c.624A>G (p.Val208=) single nucleotide variant Luscan-Lumish syndrome [RCV000652649] Chr3:47124012 [GRCh38]
Chr3:47165502 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.3742G>A (p.Gly1248Ser) single nucleotide variant Inborn genetic diseases [RCV000623176] Chr3:47120894 [GRCh38]
Chr3:47162384 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.3371C>T (p.Ala1124Val) single nucleotide variant Inborn genetic diseases [RCV000623529]|Luscan-Lumish syndrome [RCV000652612] Chr3:47121265 [GRCh38]
Chr3:47162755 [GRCh37]
Chr3:3p21.31		 benign|uncertain significance
NM_014159.7(SETD2):c.2113T>G (p.Ser705Ala) single nucleotide variant Luscan-Lumish syndrome [RCV000685662] Chr3:47122523 [GRCh38]
Chr3:47164013 [GRCh37]
Chr3:3p21.31		 benign|uncertain significance
NM_014159.7(SETD2):c.2452A>C (p.Lys818Gln) single nucleotide variant Luscan-Lumish syndrome [RCV000685663] Chr3:47122184 [GRCh38]
Chr3:47163674 [GRCh37]
Chr3:3p21.31		 benign|uncertain significance
NM_014159.7(SETD2):c.6044G>A (p.Ser2015Asn) single nucleotide variant Luscan-Lumish syndrome [RCV000688089]|not provided [RCV003140085] Chr3:47083736 [GRCh38]
Chr3:47125226 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.539C>T (p.Ser180Leu) single nucleotide variant not provided [RCV000713186] Chr3:47124097 [GRCh38]
Chr3:47165587 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.4091A>G (p.Lys1364Arg) single nucleotide variant Luscan-Lumish syndrome [RCV000687040] Chr3:47120545 [GRCh38]
Chr3:47162035 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.2894A>G (p.Glu965Gly) single nucleotide variant Luscan-Lumish syndrome [RCV000707115] Chr3:47121742 [GRCh38]
Chr3:47163232 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.5900G>C (p.Gly1967Ala) single nucleotide variant Luscan-Lumish syndrome [RCV000687740] Chr3:47083880 [GRCh38]
Chr3:47125370 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.2008G>A (p.Glu670Lys) single nucleotide variant Luscan-Lumish syndrome [RCV000693609] Chr3:47122628 [GRCh38]
Chr3:47164118 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.5872G>C (p.Ala1958Pro) single nucleotide variant Inborn genetic diseases [RCV002544899]|Luscan-Lumish syndrome [RCV000691007]|not provided [RCV003437397] Chr3:47083908 [GRCh38]
Chr3:47125398 [GRCh37]
Chr3:3p21.31		 benign|likely benign|uncertain significance
NM_014159.7(SETD2):c.2072C>T (p.Thr691Ile) single nucleotide variant Inborn genetic diseases [RCV002534372]|Luscan-Lumish syndrome [RCV000699289] Chr3:47122564 [GRCh38]
Chr3:47164054 [GRCh37]
Chr3:3p21.31		 benign|likely benign|uncertain significance
NM_014159.7(SETD2):c.1334G>T (p.Arg445Leu) single nucleotide variant Luscan-Lumish syndrome [RCV000691817] Chr3:47123302 [GRCh38]
Chr3:47164792 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.2294T>G (p.Val765Gly) single nucleotide variant Luscan-Lumish syndrome [RCV000703418] Chr3:47122342 [GRCh38]
Chr3:47163832 [GRCh37]
Chr3:3p21.31		 benign|uncertain significance
NM_014159.7(SETD2):c.7093C>G (p.Gln2365Glu) single nucleotide variant Luscan-Lumish syndrome [RCV000706030] Chr3:47046492 [GRCh38]
Chr3:47087982 [GRCh37]
Chr3:3p21.31		 likely benign|uncertain significance
NM_014159.7(SETD2):c.2402A>G (p.Asn801Ser) single nucleotide variant Luscan-Lumish syndrome [RCV000700220] Chr3:47122234 [GRCh38]
Chr3:47163724 [GRCh37]
Chr3:3p21.31		 benign|uncertain significance
NM_014159.7(SETD2):c.2100T>C (p.Asp700=) single nucleotide variant Luscan-Lumish syndrome [RCV000692337] Chr3:47122536 [GRCh38]
Chr3:47164026 [GRCh37]
Chr3:3p21.31		 likely benign|uncertain significance
NM_014159.7(SETD2):c.2507G>A (p.Cys836Tyr) single nucleotide variant Luscan-Lumish syndrome [RCV000692351] Chr3:47122129 [GRCh38]
Chr3:47163619 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.7350+6T>C single nucleotide variant Luscan-Lumish syndrome [RCV000701722]|SETD2-related disorder [RCV004535746]|not provided [RCV003432745] Chr3:47037660 [GRCh38]
Chr3:47079150 [GRCh37]
Chr3:3p21.31		 likely benign|uncertain significance
NM_014159.7(SETD2):c.3572A>G (p.Lys1191Arg) single nucleotide variant Luscan-Lumish syndrome [RCV000687640] Chr3:47121064 [GRCh38]
Chr3:47162554 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.94A>G (p.Ile32Val) single nucleotide variant Luscan-Lumish syndrome [RCV000702395] Chr3:47124542 [GRCh38]
Chr3:47166032 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.920C>A (p.Ser307Tyr) single nucleotide variant Luscan-Lumish syndrome [RCV000707257] Chr3:47123716 [GRCh38]
Chr3:47165206 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.5561C>T (p.Pro1854Leu) single nucleotide variant Luscan-Lumish syndrome [RCV000696280] Chr3:47084219 [GRCh38]
Chr3:47125709 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.3850C>A (p.His1284Asn) single nucleotide variant Luscan-Lumish syndrome [RCV001516595] Chr3:47120786 [GRCh38]
Chr3:47162276 [GRCh37]
Chr3:3p21.31		 benign|uncertain significance
NM_014159.7(SETD2):c.2819G>T (p.Gly940Val) single nucleotide variant Luscan-Lumish syndrome [RCV000696563] Chr3:47121817 [GRCh38]
Chr3:47163307 [GRCh37]
Chr3:3p21.31		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_014159.7(SETD2):c.5202G>C (p.Gln1734His) single nucleotide variant Luscan-Lumish syndrome [RCV000700594] Chr3:47088188 [GRCh38]
Chr3:47129678 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.1414C>T (p.Arg472Cys) single nucleotide variant Inborn genetic diseases [RCV003362914]|Luscan-Lumish syndrome [RCV000703479] Chr3:47123222 [GRCh38]
Chr3:47164712 [GRCh37]
Chr3:3p21.31		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_014159.7(SETD2):c.1103G>A (p.Arg368Gln) single nucleotide variant Inborn genetic diseases [RCV002534337]|Luscan-Lumish syndrome [RCV000697006] Chr3:47123533 [GRCh38]
Chr3:47165023 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.3193C>T (p.Arg1065Cys) single nucleotide variant Luscan-Lumish syndrome [RCV000701026] Chr3:47121443 [GRCh38]
Chr3:47162933 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.1664A>C (p.Tyr555Ser) single nucleotide variant Inborn genetic diseases [RCV004026325]|Luscan-Lumish syndrome [RCV000689307] Chr3:47122972 [GRCh38]
Chr3:47164462 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.1457C>T (p.Ser486Leu) single nucleotide variant Luscan-Lumish syndrome [RCV000706117] Chr3:47123179 [GRCh38]
Chr3:47164669 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.1833G>T (p.Lys611Asn) single nucleotide variant Luscan-Lumish syndrome [RCV000706329]|not provided [RCV004808854] Chr3:47122803 [GRCh38]
Chr3:47164293 [GRCh37]
Chr3:3p21.31		 likely benign|uncertain significance
NM_014159.7(SETD2):c.4628G>A (p.Arg1543Gln) single nucleotide variant not provided [RCV001546621] Chr3:47113963 [GRCh38]
Chr3:47155453 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.5278-257A>T single nucleotide variant not provided [RCV001547529] Chr3:47086571 [GRCh38]
Chr3:47128061 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.2303_2304del (p.Val768fs) microsatellite not provided [RCV001531389] Chr3:47122332..47122333 [GRCh38]
Chr3:47163822..47163823 [GRCh37]
Chr3:3p21.31		 likely pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61495-197838262)x3 copy number gain not provided [RCV000742138] Chr3:61495..197838262 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
GRCh37/hg19 3p26.3-q29(chr3:60174-197948027)x3 copy number gain not provided [RCV000742133] Chr3:60174..197948027 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
NM_014159.7(SETD2):c.-118CGC[8] microsatellite not provided [RCV001611316] Chr3:47164013..47164018 [GRCh38]
Chr3:47205503..47205508 [GRCh37]
Chr3:3p21.31		 benign
NM_014159.7(SETD2):c.4839+93del deletion not provided [RCV001679200] Chr3:47105904 [GRCh38]
Chr3:47147394 [GRCh37]
Chr3:3p21.31		 benign
NM_014159.7(SETD2):c.5143-47T>G single nucleotide variant not provided [RCV001583641] Chr3:47088294 [GRCh38]
Chr3:47129784 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.5277+117A>G single nucleotide variant not provided [RCV001546703] Chr3:47087996 [GRCh38]
Chr3:47129486 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.5143-240T>G single nucleotide variant not provided [RCV001548216] Chr3:47088487 [GRCh38]
Chr3:47129977 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.1289_1290del (p.Asp429_Ser430insTer) microsatellite Luscan-Lumish syndrome [RCV002533893]|not provided [RCV000762112] Chr3:47123346..47123347 [GRCh38]
Chr3:47164836..47164837 [GRCh37]
Chr3:3p21.31		 pathogenic|likely pathogenic
NM_014159.7(SETD2):c.7447G>A (p.Val2483Ile) single nucleotide variant Inborn genetic diseases [RCV002553101]|Luscan-Lumish syndrome [RCV001043833] Chr3:47017724 [GRCh38]
Chr3:47059214 [GRCh37]
Chr3:3p21.31		 likely benign|uncertain significance
NM_014159.7(SETD2):c.5987A>G (p.Gln1996Arg) single nucleotide variant Luscan-Lumish syndrome [RCV001066275] Chr3:47083793 [GRCh38]
Chr3:47125283 [GRCh37]
Chr3:3p21.31		 likely benign|uncertain significance
NM_014159.7(SETD2):c.2553A>C (p.Glu851Asp) single nucleotide variant Luscan-Lumish syndrome [RCV001067943] Chr3:47122083 [GRCh38]
Chr3:47163573 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.14AGCCGC[3] (p.5QP[3]) microsatellite Luscan-Lumish syndrome [RCV000890306] Chr3:47163899..47163900 [GRCh38]
Chr3:47205389..47205390 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.6970G>T (p.Ala2324Ser) single nucleotide variant not provided [RCV000890401] Chr3:47046615 [GRCh38]
Chr3:47088105 [GRCh37]
Chr3:3p21.31		 benign|conflicting interpretations of pathogenicity
NM_014159.7(SETD2):c.6461C>G (p.Ser2154Cys) single nucleotide variant Luscan-Lumish syndrome [RCV001450208] Chr3:47057323 [GRCh38]
Chr3:47098813 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.33G>C (p.Lys11Asn) single nucleotide variant Luscan-Lumish syndrome [RCV001497626] Chr3:47163892 [GRCh38]
Chr3:47205382 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.4425T>G (p.Leu1475=) single nucleotide variant Luscan-Lumish syndrome [RCV001487170] Chr3:47120211 [GRCh38]
Chr3:47161701 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.1297C>T (p.Arg433Cys) single nucleotide variant Luscan-Lumish syndrome [RCV000945578] Chr3:47123339 [GRCh38]
Chr3:47164829 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.5547G>T (p.Ser1849=) single nucleotide variant Luscan-Lumish syndrome [RCV000946379] Chr3:47084233 [GRCh38]
Chr3:47125723 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.6066A>G (p.Val2022=) single nucleotide variant Luscan-Lumish syndrome [RCV000895304]|SETD2-related disorder [RCV004541848] Chr3:47067113 [GRCh38]
Chr3:47108603 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.5851A>G (p.Thr1951Ala) single nucleotide variant Inborn genetic diseases [RCV002539452]|Luscan-Lumish syndrome [RCV001518825] Chr3:47083929 [GRCh38]
Chr3:47125419 [GRCh37]
Chr3:3p21.31		 benign|likely benign
NM_014159.7(SETD2):c.1986A>G (p.Gln662=) single nucleotide variant Inborn genetic diseases [RCV004029818]|Luscan-Lumish syndrome [RCV000951199]|not provided [RCV003438617] Chr3:47122650 [GRCh38]
Chr3:47164140 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.5549G>C (p.Arg1850Pro) single nucleotide variant not provided [RCV000951861] Chr3:47084231 [GRCh38]
Chr3:47125721 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.7239-8C>T single nucleotide variant Luscan-Lumish syndrome [RCV001484692]|not provided [RCV000898127] Chr3:47037785 [GRCh38]
Chr3:47079275 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.2979T>G (p.Ser993=) single nucleotide variant Luscan-Lumish syndrome [RCV000900129]|not provided [RCV004709001] Chr3:47121657 [GRCh38]
Chr3:47163147 [GRCh37]
Chr3:3p21.31		 benign
NM_014159.7(SETD2):c.6786C>T (p.Pro2262=) single nucleotide variant Luscan-Lumish syndrome [RCV000953962]|not provided [RCV003438628] Chr3:47056998 [GRCh38]
Chr3:47098488 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.2403C>T (p.Asn801=) single nucleotide variant Luscan-Lumish syndrome [RCV002546048] Chr3:47122233 [GRCh38]
Chr3:47163723 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.2115G>A (p.Ser705=) single nucleotide variant Luscan-Lumish syndrome [RCV003591795] Chr3:47122521 [GRCh38]
Chr3:47164011 [GRCh37]
Chr3:3p21.31		 benign
NM_014159.7(SETD2):c.6013A>G (p.Ile2005Val) single nucleotide variant Luscan-Lumish syndrome [RCV000903237] Chr3:47083767 [GRCh38]
Chr3:47125257 [GRCh37]
Chr3:3p21.31		 benign
NM_014159.7(SETD2):c.3012T>C (p.Asp1004=) single nucleotide variant Luscan-Lumish syndrome [RCV000904873] Chr3:47121624 [GRCh38]
Chr3:47163114 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.3426A>C (p.Glu1142Asp) single nucleotide variant not provided [RCV000905859] Chr3:47121210 [GRCh38]
Chr3:47162700 [GRCh37]
Chr3:3p21.31		 benign
NM_014159.7(SETD2):c.2314A>G (p.Lys772Glu) single nucleotide variant Inborn genetic diseases [RCV002542092]|Luscan-Lumish syndrome [RCV000907492] Chr3:47122322 [GRCh38]
Chr3:47163812 [GRCh37]
Chr3:3p21.31		 benign|likely benign
NM_014159.7(SETD2):c.6180A>G (p.Ser2060=) single nucleotide variant Luscan-Lumish syndrome [RCV000964670] Chr3:47062276 [GRCh38]
Chr3:47103766 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.3843T>C (p.Cys1281=) single nucleotide variant Luscan-Lumish syndrome [RCV000913521] Chr3:47120793 [GRCh38]
Chr3:47162283 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.2193C>T (p.Asp731=) single nucleotide variant Luscan-Lumish syndrome [RCV000976124] Chr3:47122443 [GRCh38]
Chr3:47163933 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.1938T>C (p.His646=) single nucleotide variant Luscan-Lumish syndrome [RCV000976642] Chr3:47122698 [GRCh38]
Chr3:47164188 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.1962T>C (p.Ser654=) single nucleotide variant not provided [RCV000918742] Chr3:47122674 [GRCh38]
Chr3:47164164 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.6090A>G (p.Gln2030=) single nucleotide variant not provided [RCV000921337] Chr3:47067089 [GRCh38]
Chr3:47108579 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.1021T>A (p.Phe341Ile) single nucleotide variant Luscan-Lumish syndrome [RCV001512163] Chr3:47123615 [GRCh38]
Chr3:47165105 [GRCh37]
Chr3:3p21.31		 benign
NM_014159.7(SETD2):c.5127T>G (p.Ser1709=) single nucleotide variant Luscan-Lumish syndrome [RCV002542168] Chr3:47097970 [GRCh38]
Chr3:47139460 [GRCh37]
Chr3:3p21.31		 benign
NM_014159.7(SETD2):c.7101T>G (p.Ser2367=) single nucleotide variant Luscan-Lumish syndrome [RCV000921973]|not provided [RCV003992422] Chr3:47042698 [GRCh38]
Chr3:47084188 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.1622G>C (p.Arg541Pro) single nucleotide variant Luscan-Lumish syndrome [RCV000979982]|not provided [RCV004773209] Chr3:47123014 [GRCh38]
Chr3:47164504 [GRCh37]
Chr3:3p21.31		 likely benign|uncertain significance
NM_014159.7(SETD2):c.6236G>A (p.Ser2079Asn) single nucleotide variant Luscan-Lumish syndrome [RCV001518756] Chr3:47062220 [GRCh38]
Chr3:47103710 [GRCh37]
Chr3:3p21.31		 benign
NM_014159.7(SETD2):c.7238+7G>A single nucleotide variant Luscan-Lumish syndrome [RCV001415338] Chr3:47042554 [GRCh38]
Chr3:47084044 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.5427T>C (p.Ile1809=) single nucleotide variant not provided [RCV000925693] Chr3:47084353 [GRCh38]
Chr3:47125843 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.3334T>C (p.Leu1112=) single nucleotide variant not provided [RCV000925873] Chr3:47121302 [GRCh38]
Chr3:47162792 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.5596A>G (p.Thr1866Ala) single nucleotide variant Luscan-Lumish syndrome [RCV000982556] Chr3:47084184 [GRCh38]
Chr3:47125674 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.5478C>T (p.Arg1826=) single nucleotide variant Luscan-Lumish syndrome [RCV000983432] Chr3:47084302 [GRCh38]
Chr3:47125792 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.7305T>C (p.Ala2435=) single nucleotide variant Luscan-Lumish syndrome [RCV000929881] Chr3:47037711 [GRCh38]
Chr3:47079201 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.7351-4T>G single nucleotide variant Luscan-Lumish syndrome [RCV001417107] Chr3:47019844 [GRCh38]
Chr3:47061334 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.6840C>T (p.Val2280=) single nucleotide variant Luscan-Lumish syndrome [RCV000932199]|SETD2-related disorder [RCV004543493] Chr3:47056944 [GRCh38]
Chr3:47098434 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.2214G>A (p.Leu738=) single nucleotide variant Luscan-Lumish syndrome [RCV001431909] Chr3:47122422 [GRCh38]
Chr3:47163912 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.4989G>T (p.Thr1663=) single nucleotide variant Luscan-Lumish syndrome [RCV001397128] Chr3:47101484 [GRCh38]
Chr3:47142974 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.6384G>A (p.Glu2128=) single nucleotide variant Luscan-Lumish syndrome [RCV000935243] Chr3:47057400 [GRCh38]
Chr3:47098890 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.5544A>G (p.Thr1848=) single nucleotide variant Luscan-Lumish syndrome [RCV000935553] Chr3:47084236 [GRCh38]
Chr3:47125726 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.3621T>C (p.Ser1207=) single nucleotide variant Luscan-Lumish syndrome [RCV003224494]|SETD2-related disorder [RCV004738091]|not provided [RCV000935817] Chr3:47121015 [GRCh38]
Chr3:47162505 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.7098+10G>A single nucleotide variant Luscan-Lumish syndrome [RCV000935940] Chr3:47046477 [GRCh38]
Chr3:47087967 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.1833G>A (p.Lys611=) single nucleotide variant Luscan-Lumish syndrome [RCV001412670]|SETD2-related disorder [RCV004533595] Chr3:47122803 [GRCh38]
Chr3:47164293 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.6606T>G (p.Pro2202=) single nucleotide variant Luscan-Lumish syndrome [RCV001428296] Chr3:47057178 [GRCh38]
Chr3:47098668 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.2106G>A (p.Val702=) single nucleotide variant Luscan-Lumish syndrome [RCV001442665] Chr3:47122530 [GRCh38]
Chr3:47164020 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.7099-5T>C single nucleotide variant Luscan-Lumish syndrome [RCV001407402] Chr3:47042705 [GRCh38]
Chr3:47084195 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.7432-10C>T single nucleotide variant Luscan-Lumish syndrome [RCV000937623] Chr3:47017749 [GRCh38]
Chr3:47059239 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.696T>C (p.Asp232=) single nucleotide variant Luscan-Lumish syndrome [RCV001444466] Chr3:47123940 [GRCh38]
Chr3:47165430 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.1344G>A (p.Arg448=) single nucleotide variant Luscan-Lumish syndrome [RCV000877981] Chr3:47123292 [GRCh38]
Chr3:47164782 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.71+10A>G single nucleotide variant Luscan-Lumish syndrome [RCV003768740] Chr3:47163844 [GRCh38]
Chr3:47205334 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.7500C>T (p.Thr2500=) single nucleotide variant Luscan-Lumish syndrome [RCV000878210]|not provided [RCV001093070] Chr3:47017671 [GRCh38]
Chr3:47059161 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.1287C>T (p.Asp429=) single nucleotide variant Luscan-Lumish syndrome [RCV001451212] Chr3:47123349 [GRCh38]
Chr3:47164839 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.2568C>T (p.Ile856=) single nucleotide variant Luscan-Lumish syndrome [RCV001431040] Chr3:47122068 [GRCh38]
Chr3:47163558 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.3640A>G (p.Asn1214Asp) single nucleotide variant Luscan-Lumish syndrome [RCV000892187] Chr3:47120996 [GRCh38]
Chr3:47162486 [GRCh37]
Chr3:3p21.31		 benign
NM_014159.7(SETD2):c.1899G>A (p.Leu633=) single nucleotide variant not provided [RCV000886337] Chr3:47122737 [GRCh38]
Chr3:47164227 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.3975A>G (p.Gly1325=) single nucleotide variant Luscan-Lumish syndrome [RCV000886655]|not provided [RCV004597920] Chr3:47120661 [GRCh38]
Chr3:47162151 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.7464T>A (p.Pro2488=) single nucleotide variant Luscan-Lumish syndrome [RCV001500615] Chr3:47017707 [GRCh38]
Chr3:47059197 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.537A>G (p.Glu179=) single nucleotide variant Luscan-Lumish syndrome [RCV001421654] Chr3:47124099 [GRCh38]
Chr3:47165589 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.6628G>A (p.Val2210Met) single nucleotide variant Luscan-Lumish syndrome [RCV001058159] Chr3:47057156 [GRCh38]
Chr3:47098646 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.3959A>G (p.Tyr1320Cys) single nucleotide variant Luscan-Lumish syndrome [RCV001061064] Chr3:47120677 [GRCh38]
Chr3:47162167 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.6121G>A (p.Gly2041Arg) single nucleotide variant Luscan-Lumish syndrome [RCV001037320] Chr3:47062335 [GRCh38]
Chr3:47103825 [GRCh37]
Chr3:3p21.31		 likely benign|uncertain significance
NM_014159.7(SETD2):c.1748_1751del (p.Lys583fs) deletion Luscan-Lumish syndrome [RCV001788514] Chr3:47122885..47122888 [GRCh38]
Chr3:47164375..47164378 [GRCh37]
Chr3:3p21.31		 pathogenic
NM_014159.7(SETD2):c.3748C>G (p.His1250Asp) single nucleotide variant Luscan-Lumish syndrome [RCV001053014] Chr3:47120888 [GRCh38]
Chr3:47162378 [GRCh37]
Chr3:3p21.31		 benign|uncertain significance
NM_014159.7(SETD2):c.1603A>G (p.Asn535Asp) single nucleotide variant not provided [RCV000992923] Chr3:47123033 [GRCh38]
Chr3:47164523 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.1688T>C (p.Ile563Thr) single nucleotide variant Luscan-Lumish syndrome [RCV001314717]|not provided [RCV000992924] Chr3:47122948 [GRCh38]
Chr3:47164438 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.7444A>G (p.Ile2482Val) single nucleotide variant not provided [RCV000992925] Chr3:47017727 [GRCh38]
Chr3:47059217 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.986G>A (p.Arg329Gln) single nucleotide variant Luscan-Lumish syndrome [RCV001060084]|not provided [RCV000992926] Chr3:47123650 [GRCh38]
Chr3:47165140 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.3356G>A (p.Ser1119Asn) single nucleotide variant Luscan-Lumish syndrome [RCV001053400] Chr3:47121280 [GRCh38]
Chr3:47162770 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.4031A>C (p.Gln1344Pro) single nucleotide variant Luscan-Lumish syndrome [RCV001058889] Chr3:47120605 [GRCh38]
Chr3:47162095 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.2731G>A (p.Val911Met) single nucleotide variant Luscan-Lumish syndrome [RCV001048018] Chr3:47121905 [GRCh38]
Chr3:47163395 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.1331C>A (p.Thr444Lys) single nucleotide variant Luscan-Lumish syndrome [RCV001039427] Chr3:47123305 [GRCh38]
Chr3:47164795 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.6212A>G (p.Asn2071Ser) single nucleotide variant Luscan-Lumish syndrome [RCV001059709] Chr3:47062244 [GRCh38]
Chr3:47103734 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.3677C>T (p.Pro1226Leu) single nucleotide variant Luscan-Lumish syndrome [RCV001034107]|not provided [RCV004721710] Chr3:47120959 [GRCh38]
Chr3:47162449 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.1849C>A (p.Pro617Thr) single nucleotide variant Luscan-Lumish syndrome [RCV001034111] Chr3:47122787 [GRCh38]
Chr3:47164277 [GRCh37]
Chr3:3p21.31		 benign
NM_014159.7(SETD2):c.1247A>G (p.Asn416Ser) single nucleotide variant Luscan-Lumish syndrome [RCV001059882] Chr3:47123389 [GRCh38]
Chr3:47164879 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.6342T>A (p.Asn2114Lys) single nucleotide variant Luscan-Lumish syndrome [RCV001034129] Chr3:47057442 [GRCh38]
Chr3:47098932 [GRCh37]
Chr3:3p21.31		 benign
NM_014159.7(SETD2):c.4240G>C (p.Asp1414His) single nucleotide variant Luscan-Lumish syndrome [RCV001039762] Chr3:47120396 [GRCh38]
Chr3:47161886 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.4500G>C (p.Glu1500Asp) single nucleotide variant Luscan-Lumish syndrome [RCV001060731] Chr3:47116709 [GRCh38]
Chr3:47158199 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.4997A>G (p.Tyr1666Cys) single nucleotide variant Dandy-Walker syndrome [RCV001258008]|Ventriculomegaly [RCV000779642] Chr3:47101476 [GRCh38]
Chr3:47142966 [GRCh37]
Chr3:3p21.31		 pathogenic|likely pathogenic
NM_014159.7(SETD2):c.3176G>A (p.Ser1059Asn) single nucleotide variant Luscan-Lumish syndrome [RCV000785128] Chr3:47121460 [GRCh38]
Chr3:47162950 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.3967A>C (p.Thr1323Pro) single nucleotide variant Luscan-Lumish syndrome [RCV000807446] Chr3:47120669 [GRCh38]
Chr3:47162159 [GRCh37]
Chr3:3p21.31		 uncertain significance
GRCh37/hg19 3p21.31-21.1(chr3:45153770-53878616) copy number gain not provided [RCV000767704] Chr3:45153770..53878616 [GRCh37]
Chr3:3p21.31-21.1		 pathogenic
NM_014159.7(SETD2):c.7438_7439insG (p.Gln2480fs) insertion not provided [RCV000782032] Chr3:47017732..47017733 [GRCh38]
Chr3:47059222..47059223 [GRCh37]
Chr3:3p21.31		 pathogenic
NM_014159.7(SETD2):c.2435T>C (p.Ile812Thr) single nucleotide variant Luscan-Lumish syndrome [RCV000938114] Chr3:47122201 [GRCh38]
Chr3:47163691 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.3300T>C (p.His1100=) single nucleotide variant Luscan-Lumish syndrome [RCV000941247] Chr3:47121336 [GRCh38]
Chr3:47162826 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.5373A>G (p.Glu1791=) single nucleotide variant Luscan-Lumish syndrome [RCV001430136] Chr3:47086219 [GRCh38]
Chr3:47127709 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.7071A>G (p.Ala2357=) single nucleotide variant Luscan-Lumish syndrome [RCV000945763]|not provided [RCV004711440] Chr3:47046514 [GRCh38]
Chr3:47088004 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.5829C>G (p.Asn1943Lys) single nucleotide variant Luscan-Lumish syndrome [RCV000945778] Chr3:47083951 [GRCh38]
Chr3:47125441 [GRCh37]
Chr3:3p21.31		 benign|conflicting interpretations of pathogenicity
NM_014159.7(SETD2):c.1205G>A (p.Arg402Gln) single nucleotide variant Inborn genetic diseases [RCV004029786]|Luscan-Lumish syndrome [RCV000946362]|not provided [RCV001683695] Chr3:47123431 [GRCh38]
Chr3:47164921 [GRCh37]
Chr3:3p21.31		 benign|likely benign
NM_014159.7(SETD2):c.5040C>T (p.Cys1680=) single nucleotide variant not provided [RCV000885052] Chr3:47098057 [GRCh38]
Chr3:47139547 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.4715C>T (p.Ser1572Leu) single nucleotide variant Luscan-Lumish syndrome [RCV000887626] Chr3:47113876 [GRCh38]
Chr3:47155366 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.1903A>G (p.Ile635Val) single nucleotide variant Luscan-Lumish syndrome [RCV000888528] Chr3:47122733 [GRCh38]
Chr3:47164223 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.1425T>C (p.Ser475=) single nucleotide variant Luscan-Lumish syndrome [RCV001453765] Chr3:47123211 [GRCh38]
Chr3:47164701 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.3735T>C (p.His1245=) single nucleotide variant Luscan-Lumish syndrome [RCV001405512] Chr3:47120901 [GRCh38]
Chr3:47162391 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.5385G>A (p.Lys1795=) single nucleotide variant not provided [RCV000928039] Chr3:47086207 [GRCh38]
Chr3:47127697 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.6964-9A>G single nucleotide variant Luscan-Lumish syndrome [RCV001490571] Chr3:47046630 [GRCh38]
Chr3:47088120 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.1194A>G (p.Arg398=) single nucleotide variant Luscan-Lumish syndrome [RCV000930466] Chr3:47123442 [GRCh38]
Chr3:47164932 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.1049A>T (p.Asp350Val) single nucleotide variant Luscan-Lumish syndrome [RCV000818901] Chr3:47123587 [GRCh38]
Chr3:47165077 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.6953C>G (p.Pro2318Arg) single nucleotide variant Luscan-Lumish syndrome [RCV000818974] Chr3:47056831 [GRCh38]
Chr3:47098321 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.5524G>A (p.Gly1842Arg) single nucleotide variant Luscan-Lumish syndrome [RCV000804724] Chr3:47084256 [GRCh38]
Chr3:47125746 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.3593A>G (p.Gln1198Arg) single nucleotide variant Luscan-Lumish syndrome [RCV000816331] Chr3:47121043 [GRCh38]
Chr3:47162533 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.6737G>C (p.Gly2246Ala) single nucleotide variant Luscan-Lumish syndrome [RCV000803311] Chr3:47057047 [GRCh38]
Chr3:47098537 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.6604C>G (p.Pro2202Ala) single nucleotide variant Luscan-Lumish syndrome [RCV000821628] Chr3:47057180 [GRCh38]
Chr3:47098670 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.3646T>C (p.Ser1216Pro) single nucleotide variant not provided [RCV000998067] Chr3:47120990 [GRCh38]
Chr3:47162480 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.3580A>G (p.Ile1194Val) single nucleotide variant Luscan-Lumish syndrome [RCV000810690] Chr3:47121056 [GRCh38]
Chr3:47162546 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.1580T>C (p.Ile527Thr) single nucleotide variant Inborn genetic diseases [RCV002534913]|Luscan-Lumish syndrome [RCV000816979] Chr3:47123056 [GRCh38]
Chr3:47164546 [GRCh37]
Chr3:3p21.31		 likely benign|uncertain significance
NM_014159.7(SETD2):c.3251G>A (p.Ser1084Asn) single nucleotide variant Inborn genetic diseases [RCV002534738]|Luscan-Lumish syndrome [RCV000803259]|not provided [RCV003884737] Chr3:47121385 [GRCh38]
Chr3:47162875 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.5142A>G (p.Ser1714=) single nucleotide variant Luscan-Lumish syndrome [RCV000822618] Chr3:47097955 [GRCh38]
Chr3:47139445 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.7048G>A (p.Ala2350Thr) single nucleotide variant Luscan-Lumish syndrome [RCV000816501] Chr3:47046537 [GRCh38]
Chr3:47088027 [GRCh37]
Chr3:3p21.31		 benign|uncertain significance
NM_014159.7(SETD2):c.2546G>T (p.Cys849Phe) single nucleotide variant Luscan-Lumish syndrome [RCV000817179] Chr3:47122090 [GRCh38]
Chr3:47163580 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.3266G>A (p.Arg1089Gln) single nucleotide variant Luscan-Lumish syndrome [RCV000805407] Chr3:47121370 [GRCh38]
Chr3:47162860 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.5317C>T (p.Arg1773Cys) single nucleotide variant Luscan-Lumish syndrome [RCV000802480] Chr3:47086275 [GRCh38]
Chr3:47127765 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.3691G>A (p.Gly1231Arg) single nucleotide variant Luscan-Lumish syndrome [RCV000798991] Chr3:47120945 [GRCh38]
Chr3:47162435 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.5542A>G (p.Thr1848Ala) single nucleotide variant Luscan-Lumish syndrome [RCV000811842]|not provided [RCV001799710] Chr3:47084238 [GRCh38]
Chr3:47125728 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.2T>A (p.Met1Lys) single nucleotide variant Luscan-Lumish syndrome [RCV000795794] Chr3:47163923 [GRCh38]
Chr3:47205413 [GRCh37]
Chr3:3p21.31		 likely benign|uncertain significance
NM_014159.7(SETD2):c.6482A>C (p.His2161Pro) single nucleotide variant Luscan-Lumish syndrome [RCV000810590] Chr3:47057302 [GRCh38]
Chr3:47098792 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.3991C>G (p.Leu1331Val) single nucleotide variant Luscan-Lumish syndrome [RCV000807156] Chr3:47120645 [GRCh38]
Chr3:47162135 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.1211G>C (p.Arg404Thr) single nucleotide variant Luscan-Lumish syndrome [RCV000812655] Chr3:47123425 [GRCh38]
Chr3:47164915 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.6429C>A (p.Asn2143Lys) single nucleotide variant Luscan-Lumish syndrome [RCV000796311] Chr3:47057355 [GRCh38]
Chr3:47098845 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.2032G>A (p.Gly678Arg) single nucleotide variant Luscan-Lumish syndrome [RCV000809229]|not provided [RCV003489900] Chr3:47122604 [GRCh38]
Chr3:47164094 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.5632T>C (p.Phe1878Leu) single nucleotide variant Luscan-Lumish syndrome [RCV000814865] Chr3:47084148 [GRCh38]
Chr3:47125638 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.6999_7007del (p.Gln2334_Ile2336del) deletion Luscan-Lumish syndrome [RCV000798883] Chr3:47046578..47046586 [GRCh38]
Chr3:47088068..47088076 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.1337A>C (p.Tyr446Ser) single nucleotide variant Luscan-Lumish syndrome [RCV000815590] Chr3:47123299 [GRCh38]
Chr3:47164789 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.3769A>T (p.Asn1257Tyr) single nucleotide variant Luscan-Lumish syndrome [RCV000794700] Chr3:47120867 [GRCh38]
Chr3:47162357 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.2956G>A (p.Glu986Lys) single nucleotide variant Luscan-Lumish syndrome [RCV000820201] Chr3:47121680 [GRCh38]
Chr3:47163170 [GRCh37]
Chr3:3p21.31		 benign|uncertain significance
NM_014159.7(SETD2):c.29C>T (p.Pro10Leu) single nucleotide variant Luscan-Lumish syndrome [RCV001043681] Chr3:47163896 [GRCh38]
Chr3:47205386 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.6053A>G (p.Asp2018Gly) single nucleotide variant Luscan-Lumish syndrome [RCV001043844] Chr3:47083727 [GRCh38]
Chr3:47125217 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.1048_1049del (p.Asp350fs) microsatellite not provided [RCV001008208] Chr3:47123587..47123588 [GRCh38]
Chr3:47165077..47165078 [GRCh37]
Chr3:3p21.31		 pathogenic
NM_014159.7(SETD2):c.1369G>A (p.Glu457Lys) single nucleotide variant Luscan-Lumish syndrome [RCV001202283] Chr3:47123267 [GRCh38]
Chr3:47164757 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.3661A>G (p.Thr1221Ala) single nucleotide variant Luscan-Lumish syndrome [RCV001208178] Chr3:47120975 [GRCh38]
Chr3:47162465 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.7660G>A (p.Val2554Ile) single nucleotide variant Inborn genetic diseases [RCV002561689]|Luscan-Lumish syndrome [RCV001208523]|not specified [RCV003317449] Chr3:47017128 [GRCh38]
Chr3:47058618 [GRCh37]
Chr3:3p21.31		 likely benign|uncertain significance
NM_014159.7(SETD2):c.5906A>G (p.Lys1969Arg) single nucleotide variant Luscan-Lumish syndrome [RCV001216990] Chr3:47083874 [GRCh38]
Chr3:47125364 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.6479C>T (p.Pro2160Leu) single nucleotide variant Inborn genetic diseases [RCV002564041]|Luscan-Lumish syndrome [RCV001242722] Chr3:47057305 [GRCh38]
Chr3:47098795 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.6979A>G (p.Ser2327Gly) single nucleotide variant Luscan-Lumish syndrome [RCV001237562] Chr3:47046606 [GRCh38]
Chr3:47088096 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.3038A>G (p.Asp1013Gly) single nucleotide variant Luscan-Lumish syndrome [RCV001241164] Chr3:47121598 [GRCh38]
Chr3:47163088 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.7431+6_7431+28del deletion Luscan-Lumish syndrome [RCV001226864] Chr3:47019732..47019754 [GRCh38]
Chr3:47061222..47061244 [GRCh37]
Chr3:3p21.31		 benign|uncertain significance
NM_014159.7(SETD2):c.1619G>A (p.Arg540Gln) single nucleotide variant Luscan-Lumish syndrome [RCV001223293] Chr3:47123017 [GRCh38]
Chr3:47164507 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.6307A>C (p.Thr2103Pro) single nucleotide variant Luscan-Lumish syndrome [RCV001226948] Chr3:47057477 [GRCh38]
Chr3:47098967 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.265C>T (p.Leu89Phe) single nucleotide variant Luscan-Lumish syndrome [RCV001225345]|not provided [RCV001549883] Chr3:47124371 [GRCh38]
Chr3:47165861 [GRCh37]
Chr3:3p21.31		 likely benign|uncertain significance
NM_014159.7(SETD2):c.7685A>G (p.Glu2562Gly) single nucleotide variant Luscan-Lumish syndrome [RCV001227417] Chr3:47017103 [GRCh38]
Chr3:47058593 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.5150G>A (p.Gly1717Glu) single nucleotide variant Luscan-Lumish syndrome [RCV001238255] Chr3:47088240 [GRCh38]
Chr3:47129730 [GRCh37]
Chr3:3p21.31		 likely benign|uncertain significance
NM_014159.7(SETD2):c.4187A>G (p.Asn1396Ser) single nucleotide variant Luscan-Lumish syndrome [RCV001238499] Chr3:47120449 [GRCh38]
Chr3:47161939 [GRCh37]
Chr3:3p21.31		 benign|uncertain significance
NM_014159.7(SETD2):c.3919G>T (p.Asp1307Tyr) single nucleotide variant Luscan-Lumish syndrome [RCV001238792] Chr3:47120717 [GRCh38]
Chr3:47162207 [GRCh37]
Chr3:3p21.31		 likely benign|uncertain significance
NM_014159.7(SETD2):c.3614A>G (p.Tyr1205Cys) single nucleotide variant Luscan-Lumish syndrome [RCV001226077] Chr3:47121022 [GRCh38]
Chr3:47162512 [GRCh37]
Chr3:3p21.31		 benign|uncertain significance
NM_014159.7(SETD2):c.722C>G (p.Pro241Arg) single nucleotide variant Luscan-Lumish syndrome [RCV001226100] Chr3:47123914 [GRCh38]
Chr3:47165404 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.1769T>C (p.Leu590Ser) single nucleotide variant Luscan-Lumish syndrome [RCV001241831]|not provided [RCV004692300] Chr3:47122867 [GRCh38]
Chr3:47164357 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.6760G>A (p.Val2254Ile) single nucleotide variant Luscan-Lumish syndrome [RCV001242414] Chr3:47057024 [GRCh38]
Chr3:47098514 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.2417A>C (p.Asn806Thr) single nucleotide variant Luscan-Lumish syndrome [RCV001216701] Chr3:47122219 [GRCh38]
Chr3:47163709 [GRCh37]
Chr3:3p21.31		 uncertain significance
GRCh37/hg19 3p21.31(chr3:47068320-47472020)x3 copy number gain not provided [RCV000846985] Chr3:47068320..47472020 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.4328C>T (p.Ala1443Val) single nucleotide variant not provided [RCV004784315] Chr3:47120308 [GRCh38]
Chr3:47161798 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.71+19G>C single nucleotide variant not specified [RCV004783353] Chr3:47163835 [GRCh38]
Chr3:47205325 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.3121T>C (p.Ser1041Pro) single nucleotide variant not provided [RCV004786060] Chr3:47121515 [GRCh38]
Chr3:47163005 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.2616A>C (p.Gln872His) single nucleotide variant not provided [RCV003312579] Chr3:47122020 [GRCh38]
Chr3:47163510 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.3214G>A (p.Val1072Met) single nucleotide variant Inborn genetic diseases [RCV004333266]|not provided [RCV003313600] Chr3:47121422 [GRCh38]
Chr3:47162912 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.170A>G (p.Lys57Arg) single nucleotide variant Autism spectrum disorder [RCV003127361] Chr3:47124466 [GRCh38]
Chr3:47165956 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.5102G>T (p.Gly1701Val) single nucleotide variant not provided [RCV003233358] Chr3:47097995 [GRCh38]
Chr3:47139485 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.6011A>G (p.Asp2004Gly) single nucleotide variant Autism spectrum disorder [RCV003127269] Chr3:47083769 [GRCh38]
Chr3:47125259 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.7238+53G>A single nucleotide variant not provided [RCV001546473] Chr3:47042508 [GRCh38]
Chr3:47083998 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.72-66A>G single nucleotide variant not provided [RCV001546743] Chr3:47126729 [GRCh38]
Chr3:47168219 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.72-152dup duplication not provided [RCV001575527] Chr3:47126814..47126815 [GRCh38]
Chr3:47168304..47168305 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.7432-102A>T single nucleotide variant not provided [RCV001553314] Chr3:47017841 [GRCh38]
Chr3:47059331 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.6109+199C>T single nucleotide variant not provided [RCV001617633] Chr3:47066871 [GRCh38]
Chr3:47108361 [GRCh37]
Chr3:3p21.31		 benign
NM_014159.7(SETD2):c.6110-157_6110-156del microsatellite not provided [RCV001717171] Chr3:47062502..47062503 [GRCh38]
Chr3:47103992..47103993 [GRCh37]
Chr3:3p21.31		 benign
NM_014159.7(SETD2):c.6964-283T>G single nucleotide variant not provided [RCV001637134] Chr3:47046904 [GRCh38]
Chr3:47088394 [GRCh37]
Chr3:3p21.31		 benign
NM_014159.7(SETD2):c.-118CGC[9] microsatellite not provided [RCV001598508] Chr3:47164013..47164015 [GRCh38]
Chr3:47205503..47205505 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.7351-123G>A single nucleotide variant not provided [RCV001655451] Chr3:47019963 [GRCh38]
Chr3:47061453 [GRCh37]
Chr3:3p21.31		 benign
NM_014159.7(SETD2):c.4486C>T (p.Arg1496Ter) single nucleotide variant not provided [RCV001591541] Chr3:47116723 [GRCh38]
Chr3:47158213 [GRCh37]
Chr3:3p21.31		 pathogenic
NM_014159.7(SETD2):c.6110-26del deletion not provided [RCV001534557] Chr3:47062372 [GRCh38]
Chr3:47103862 [GRCh37]
Chr3:3p21.31		 benign
NM_014159.7(SETD2):c.4918-76A>G single nucleotide variant not provided [RCV001556763] Chr3:47101631 [GRCh38]
Chr3:47143121 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.6061-46A>G single nucleotide variant not provided [RCV001669337] Chr3:47067164 [GRCh38]
Chr3:47108654 [GRCh37]
Chr3:3p21.31		 benign
NM_014159.7(SETD2):c.4839+91_4839+93del deletion not provided [RCV001616170] Chr3:47105904..47105906 [GRCh38]
Chr3:47147394..47147396 [GRCh37]
Chr3:3p21.31		 benign
NM_014159.7(SETD2):c.6061-314dup duplication not provided [RCV001665664] Chr3:47067406..47067407 [GRCh38]
Chr3:47108896..47108897 [GRCh37]
Chr3:3p21.31		 benign
NM_014159.7(SETD2):c.4918-78AC[20] microsatellite not provided [RCV001592593] Chr3:47101597..47101598 [GRCh38]
Chr3:47143087..47143088 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.7098+140A>T single nucleotide variant not provided [RCV001654930] Chr3:47046347 [GRCh38]
Chr3:47087837 [GRCh37]
Chr3:3p21.31		 benign
NM_014159.7(SETD2):c.5143-251_5143-249dup duplication not provided [RCV001609997] Chr3:47088495..47088496 [GRCh38]
Chr3:47129985..47129986 [GRCh37]
Chr3:3p21.31		 benign
NM_014159.7(SETD2):c.1415G>A (p.Arg472His) single nucleotide variant Luscan-Lumish syndrome [RCV000878832]|not provided [RCV001672981] Chr3:47123221 [GRCh38]
Chr3:47164711 [GRCh37]
Chr3:3p21.31		 benign|likely benign
NM_014159.7(SETD2):c.606C>G (p.Leu202=) single nucleotide variant Luscan-Lumish syndrome [RCV001424727] Chr3:47124030 [GRCh38]
Chr3:47165520 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.1200A>G (p.Arg400=) single nucleotide variant Luscan-Lumish syndrome [RCV003754891] Chr3:47123436 [GRCh38]
Chr3:47164926 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.6810T>C (p.Tyr2270=) single nucleotide variant not provided [RCV000893900] Chr3:47056974 [GRCh38]
Chr3:47098464 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.5025C>T (p.Ala1675=) single nucleotide variant Luscan-Lumish syndrome [RCV000902998] Chr3:47098072 [GRCh38]
Chr3:47139562 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.1914C>T (p.Ser638=) single nucleotide variant Luscan-Lumish syndrome [RCV000907391]|not provided [RCV003432897] Chr3:47122722 [GRCh38]
Chr3:47164212 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.6726C>T (p.Ala2242=) single nucleotide variant Luscan-Lumish syndrome [RCV000924122] Chr3:47057058 [GRCh38]
Chr3:47098548 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.5649T>C (p.Ile1883=) single nucleotide variant Luscan-Lumish syndrome [RCV000938609] Chr3:47084131 [GRCh38]
Chr3:47125621 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.6768C>T (p.Val2256=) single nucleotide variant Luscan-Lumish syndrome [RCV000945517]|SETD2-related disorder [RCV004543538] Chr3:47057016 [GRCh38]
Chr3:47098506 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.2700C>T (p.Cys900=) single nucleotide variant Luscan-Lumish syndrome [RCV000949260] Chr3:47121936 [GRCh38]
Chr3:47163426 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.2394C>T (p.Asn798=) single nucleotide variant Luscan-Lumish syndrome [RCV000971730] Chr3:47122242 [GRCh38]
Chr3:47163732 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.6793G>A (p.Val2265Ile) single nucleotide variant not provided [RCV003317444]|not specified [RCV001193985] Chr3:47056991 [GRCh38]
Chr3:47098481 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.3601G>C (p.Glu1201Gln) single nucleotide variant Luscan-Lumish syndrome [RCV001049947] Chr3:47121035 [GRCh38]
Chr3:47162525 [GRCh37]
Chr3:3p21.31		 likely benign|uncertain significance
NM_014159.7(SETD2):c.2813A>G (p.Asp938Gly) single nucleotide variant Luscan-Lumish syndrome [RCV001212975] Chr3:47121823 [GRCh38]
Chr3:47163313 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.1523G>T (p.Gly508Val) single nucleotide variant Inborn genetic diseases [RCV002563944]|Luscan-Lumish syndrome [RCV001239492]|not provided [RCV001773542] Chr3:47123113 [GRCh38]
Chr3:47164603 [GRCh37]
Chr3:3p21.31		 likely benign|uncertain significance
NM_014159.7(SETD2):c.3671dup (p.Asn1224fs) duplication Luscan-Lumish syndrome [RCV001232118] Chr3:47120964..47120965 [GRCh38]
Chr3:47162454..47162455 [GRCh37]
Chr3:3p21.31		 pathogenic
NM_014159.7(SETD2):c.7048G>T (p.Ala2350Ser) single nucleotide variant Luscan-Lumish syndrome [RCV001205507] Chr3:47046537 [GRCh38]
Chr3:47088027 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.2912C>G (p.Pro971Arg) single nucleotide variant Luscan-Lumish syndrome [RCV001245290] Chr3:47121724 [GRCh38]
Chr3:47163214 [GRCh37]
Chr3:3p21.31		 benign|uncertain significance
NM_014159.7(SETD2):c.6293+9C>T single nucleotide variant Luscan-Lumish syndrome [RCV001234103] Chr3:47062154 [GRCh38]
Chr3:47103644 [GRCh37]
Chr3:3p21.31		 likely benign|uncertain significance
NM_014159.7(SETD2):c.4220G>T (p.Arg1407Met) single nucleotide variant Luscan-Lumish syndrome [RCV001208792] Chr3:47120416 [GRCh38]
Chr3:47161906 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.3908A>G (p.Asn1303Ser) single nucleotide variant Inborn genetic diseases [RCV002555845]|Luscan-Lumish syndrome [RCV001065642] Chr3:47120728 [GRCh38]
Chr3:47162218 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.1204C>T (p.Arg402Trp) single nucleotide variant Luscan-Lumish syndrome [RCV003591843]|not provided [RCV001093071] Chr3:47123432 [GRCh38]
Chr3:47164922 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.4804A>G (p.Ile1602Val) single nucleotide variant Inborn genetic diseases [RCV004032517]|Luscan-Lumish syndrome [RCV001224687]|not specified [RCV003387977] Chr3:47106032 [GRCh38]
Chr3:47147522 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.4034A>G (p.Asp1345Gly) single nucleotide variant Luscan-Lumish syndrome [RCV001224732] Chr3:47120602 [GRCh38]
Chr3:47162092 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.3655C>G (p.Gln1219Glu) single nucleotide variant Luscan-Lumish syndrome [RCV001229355] Chr3:47120981 [GRCh38]
Chr3:47162471 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.6029C>T (p.Thr2010Ile) single nucleotide variant Luscan-Lumish syndrome [RCV001227955]|not provided [RCV003127704] Chr3:47083751 [GRCh38]
Chr3:47125241 [GRCh37]
Chr3:3p21.31		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_014159.7(SETD2):c.775A>G (p.Ile259Val) single nucleotide variant Luscan-Lumish syndrome [RCV001235152] Chr3:47123861 [GRCh38]
Chr3:47165351 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.430T>A (p.Phe144Ile) single nucleotide variant not provided [RCV004812956] Chr3:47124206 [GRCh38]
Chr3:47165696 [GRCh37]		 uncertain significance
NM_014159.7(SETD2):c.71+235G>T single nucleotide variant not provided [RCV001569658] Chr3:47163619 [GRCh38]
Chr3:47205109 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.5398-60dup duplication not provided [RCV001577322] Chr3:47084426..47084427 [GRCh38]
Chr3:47125916..47125917 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.4586+123A>T single nucleotide variant not provided [RCV001572183] Chr3:47116500 [GRCh38]
Chr3:47157990 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.5365G>A (p.Gly1789Ser) single nucleotide variant Luscan-Lumish syndrome [RCV002468506] Chr3:47086227 [GRCh38]
Chr3:47127717 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.999T>G (p.Ser333Arg) single nucleotide variant Luscan-Lumish syndrome [RCV002468513] Chr3:47123637 [GRCh38]
Chr3:47165127 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.2009A>C (p.Glu670Ala) single nucleotide variant Luscan-Lumish syndrome [RCV002470558] Chr3:47122627 [GRCh38]
Chr3:47164117 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.2700C>G (p.Cys900Trp) single nucleotide variant not provided [RCV002467178] Chr3:47121936 [GRCh38]
Chr3:47163426 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.440A>T (p.His147Leu) single nucleotide variant not provided [RCV002464735] Chr3:47124196 [GRCh38]
Chr3:47165686 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.5713G>A (p.Gly1905Ser) single nucleotide variant Luscan-Lumish syndrome [RCV002468443]|not provided [RCV003138280] Chr3:47084067 [GRCh38]
Chr3:47125557 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.6110-39dup duplication not provided [RCV001552750] Chr3:47062371..47062372 [GRCh38]
Chr3:47103861..47103862 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.-118CGC[11] microsatellite not provided [RCV001559490] Chr3:47164012..47164013 [GRCh38]
Chr3:47205502..47205503 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.866A>G (p.Asp289Gly) single nucleotide variant See cases [RCV002252618] Chr3:47123770 [GRCh38]
Chr3:47165260 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.6060+266C>T single nucleotide variant not provided [RCV001555746] Chr3:47083454 [GRCh38]
Chr3:47124944 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.4918-78AC[16] microsatellite not provided [RCV001718169] Chr3:47101598..47101601 [GRCh38]
Chr3:47143088..47143091 [GRCh37]
Chr3:3p21.31		 benign
NM_014159.7(SETD2):c.5278-1G>C single nucleotide variant not provided [RCV001561537] Chr3:47086315 [GRCh38]
Chr3:47127805 [GRCh37]
Chr3:3p21.31		 pathogenic
NM_014159.7(SETD2):c.6844_6845del (p.Val2282fs) microsatellite Luscan-Lumish syndrome [RCV002471404] Chr3:47056939..47056940 [GRCh38]
Chr3:47098429..47098430 [GRCh37]
Chr3:3p21.31		 pathogenic
NM_014159.7(SETD2):c.358A>T (p.Ile120Phe) single nucleotide variant Luscan-Lumish syndrome [RCV002470652] Chr3:47124278 [GRCh38]
Chr3:47165768 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.5277+16T>C single nucleotide variant Luscan-Lumish syndrome [RCV003106668] Chr3:47088097 [GRCh38]
Chr3:47129587 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.746C>T (p.Ser249Phe) single nucleotide variant Luscan-Lumish syndrome [RCV002471452] Chr3:47123890 [GRCh38]
Chr3:47165380 [GRCh37]
Chr3:3p21.31		 likely benign|conflicting interpretations of pathogenicity
NM_014159.7(SETD2):c.6110C>T (p.Thr2037Ile) single nucleotide variant Luscan-Lumish syndrome [RCV004799551] Chr3:47062346 [GRCh38]
Chr3:47103836 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.7270A>G (p.Ser2424Gly) single nucleotide variant Luscan-Lumish syndrome [RCV001043881] Chr3:47037746 [GRCh38]
Chr3:47079236 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.6110-302A>G single nucleotide variant not provided [RCV001596624] Chr3:47062648 [GRCh38]
Chr3:47104138 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.6293+277G>A single nucleotide variant not provided [RCV001677899] Chr3:47061886 [GRCh38]
Chr3:47103376 [GRCh37]
Chr3:3p21.31		 benign
NM_014159.7(SETD2):c.7431+67C>T single nucleotide variant not provided [RCV001597419] Chr3:47019693 [GRCh38]
Chr3:47061183 [GRCh37]
Chr3:3p21.31		 benign
NM_014159.7(SETD2):c.-118CGC[7] microsatellite not provided [RCV001687943] Chr3:47164013..47164021 [GRCh38]
Chr3:47205503..47205511 [GRCh37]
Chr3:3p21.31		 benign
NM_014159.7(SETD2):c.5277+238_5277+239insCTC insertion not provided [RCV001654971] Chr3:47087874..47087875 [GRCh38]
Chr3:47129364..47129365 [GRCh37]
Chr3:3p21.31		 benign
NM_014159.7(SETD2):c.6061-289del deletion not provided [RCV001595912] Chr3:47067407 [GRCh38]
Chr3:47108897 [GRCh37]
Chr3:3p21.31		 benign
NM_014159.7(SETD2):c.5143-166G>A single nucleotide variant not provided [RCV001661011] Chr3:47088413 [GRCh38]
Chr3:47129903 [GRCh37]
Chr3:3p21.31		 benign
NM_014159.7(SETD2):c.7350+44C>T single nucleotide variant Luscan-Lumish syndrome [RCV001807486]|not provided [RCV001661053] Chr3:47037622 [GRCh38]
Chr3:47079112 [GRCh37]
Chr3:3p21.31		 benign
NM_014159.7(SETD2):c.6109+230G>A single nucleotide variant not provided [RCV001598351] Chr3:47066840 [GRCh38]
Chr3:47108330 [GRCh37]
Chr3:3p21.31		 benign
NM_014159.7(SETD2):c.4918-82GC[3] microsatellite not provided [RCV001598887] Chr3:47101633..47101634 [GRCh38]
Chr3:47143123..47143124 [GRCh37]
Chr3:3p21.31		 benign
NM_014159.7(SETD2):c.5398-45del deletion not provided [RCV001617868] Chr3:47084427 [GRCh38]
Chr3:47125917 [GRCh37]
Chr3:3p21.31		 benign
NM_014159.7(SETD2):c.3802_3804del (p.Ser1268del) deletion Luscan-Lumish syndrome [RCV001048390] Chr3:47120832..47120834 [GRCh38]
Chr3:47162322..47162324 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.6019G>A (p.Asp2007Asn) single nucleotide variant Luscan-Lumish syndrome [RCV001034032] Chr3:47083761 [GRCh38]
Chr3:47125251 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.2029C>T (p.Pro677Ser) single nucleotide variant Luscan-Lumish syndrome [RCV001034118] Chr3:47122607 [GRCh38]
Chr3:47164097 [GRCh37]
Chr3:3p21.31		 benign
NM_014159.7(SETD2):c.2176A>G (p.Arg726Gly) single nucleotide variant Luscan-Lumish syndrome [RCV001043964] Chr3:47122460 [GRCh38]
Chr3:47163950 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.68C>G (p.Pro23Arg) single nucleotide variant Luscan-Lumish syndrome [RCV001066060] Chr3:47163857 [GRCh38]
Chr3:47205347 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.7432-94G>A single nucleotide variant not provided [RCV001714613] Chr3:47017833 [GRCh38]
Chr3:47059323 [GRCh37]
Chr3:3p21.31		 benign
NM_014159.7(SETD2):c.3239T>C (p.Met1080Thr) single nucleotide variant Luscan-Lumish syndrome [RCV001049230]|not provided [RCV003141975] Chr3:47121397 [GRCh38]
Chr3:47162887 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.4918-78AC[19] microsatellite not provided [RCV001616713] Chr3:47101597..47101598 [GRCh38]
Chr3:47143087..47143088 [GRCh37]
Chr3:3p21.31		 benign
NM_014159.7(SETD2):c.4839+72dup duplication not provided [RCV001565711] Chr3:47105903..47105904 [GRCh38]
Chr3:47147393..47147394 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.5143-20A>G single nucleotide variant Luscan-Lumish syndrome [RCV002070425]|not provided [RCV001583622] Chr3:47088267 [GRCh38]
Chr3:47129757 [GRCh37]
Chr3:3p21.31		 benign|likely benign
NM_014159.7(SETD2):c.3152C>T (p.Ser1051Leu) single nucleotide variant Luscan-Lumish syndrome [RCV001034245] Chr3:47121484 [GRCh38]
Chr3:47162974 [GRCh37]
Chr3:3p21.31		 benign
NM_014159.7(SETD2):c.1184G>A (p.Arg395Lys) single nucleotide variant Luscan-Lumish syndrome [RCV001045803] Chr3:47123452 [GRCh38]
Chr3:47164942 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.6179C>T (p.Ser2060Leu) single nucleotide variant Luscan-Lumish syndrome [RCV001198526]|not provided [RCV004794502] Chr3:47062277 [GRCh38]
Chr3:47103767 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.4918-20G>C single nucleotide variant Luscan-Lumish syndrome [RCV001198778]|not provided [RCV004710260] Chr3:47101575 [GRCh38]
Chr3:47143065 [GRCh37]
Chr3:3p21.31		 benign
NM_014159.7(SETD2):c.1478G>A (p.Arg493Gln) single nucleotide variant Luscan-Lumish syndrome [RCV001041565] Chr3:47123158 [GRCh38]
Chr3:47164648 [GRCh37]
Chr3:3p21.31		 likely benign|uncertain significance
NM_014159.7(SETD2):c.3936A>G (p.Arg1312=) single nucleotide variant Luscan-Lumish syndrome [RCV001235699] Chr3:47120700 [GRCh38]
Chr3:47162190 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.3788C>G (p.Ser1263Cys) single nucleotide variant Luscan-Lumish syndrome [RCV001206282] Chr3:47120848 [GRCh38]
Chr3:47162338 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.985C>T (p.Arg329Trp) single nucleotide variant Luscan-Lumish syndrome [RCV001052761] Chr3:47123651 [GRCh38]
Chr3:47165141 [GRCh37]
Chr3:3p21.31		 likely benign|uncertain significance
NM_014159.7(SETD2):c.2155A>C (p.Asn719His) single nucleotide variant Luscan-Lumish syndrome [RCV001204839] Chr3:47122481 [GRCh38]
Chr3:47163971 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.4075T>C (p.Ser1359Pro) single nucleotide variant Luscan-Lumish syndrome [RCV001217803] Chr3:47120561 [GRCh38]
Chr3:47162051 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.6770T>G (p.Leu2257Trp) single nucleotide variant Luscan-Lumish syndrome [RCV001060387] Chr3:47057014 [GRCh38]
Chr3:47098504 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.2993T>G (p.Val998Gly) single nucleotide variant Luscan-Lumish syndrome [RCV001214855] Chr3:47121643 [GRCh38]
Chr3:47163133 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.5689A>C (p.Thr1897Pro) single nucleotide variant Luscan-Lumish syndrome [RCV001042253]|not provided [RCV004570136] Chr3:47084091 [GRCh38]
Chr3:47125581 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.1199G>A (p.Arg400Gln) single nucleotide variant Luscan-Lumish syndrome [RCV001201440] Chr3:47123437 [GRCh38]
Chr3:47164927 [GRCh37]
Chr3:3p21.31		 likely benign|uncertain significance
NM_014159.7(SETD2):c.1412G>A (p.Arg471Lys) single nucleotide variant Luscan-Lumish syndrome [RCV001042552]|SETD2-related disorder [RCV004738128]|not provided [RCV003438653] Chr3:47123224 [GRCh38]
Chr3:47164714 [GRCh37]
Chr3:3p21.31		 benign|likely benign|uncertain significance
NM_014159.7(SETD2):c.5567A>G (p.Asn1856Ser) single nucleotide variant Luscan-Lumish syndrome [RCV001201591] Chr3:47084213 [GRCh38]
Chr3:47125703 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.3681T>G (p.Asp1227Glu) single nucleotide variant Luscan-Lumish syndrome [RCV001247874] Chr3:47120955 [GRCh38]
Chr3:47162445 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.2192A>G (p.Asp731Gly) single nucleotide variant Luscan-Lumish syndrome [RCV001201680] Chr3:47122444 [GRCh38]
Chr3:47163934 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.3146G>A (p.Ser1049Asn) single nucleotide variant Luscan-Lumish syndrome [RCV001039670] Chr3:47121490 [GRCh38]
Chr3:47162980 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.5510T>C (p.Leu1837Ser) single nucleotide variant Luscan-Lumish syndrome [RCV001234178] Chr3:47084270 [GRCh38]
Chr3:47125760 [GRCh37]
Chr3:3p21.31		 likely benign|uncertain significance
NM_014159.7(SETD2):c.4683C>T (p.Gly1561=) single nucleotide variant Luscan-Lumish syndrome [RCV001214375] Chr3:47113908 [GRCh38]
Chr3:47155398 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.1661G>A (p.Arg554His) single nucleotide variant Luscan-Lumish syndrome [RCV001215079] Chr3:47122975 [GRCh38]
Chr3:47164465 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.1745T>C (p.Ile582Thr) single nucleotide variant Luscan-Lumish syndrome [RCV001215080] Chr3:47122891 [GRCh38]
Chr3:47164381 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.5887A>G (p.Lys1963Glu) single nucleotide variant Luscan-Lumish syndrome [RCV001233482] Chr3:47083893 [GRCh38]
Chr3:47125383 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.6982C>G (p.Leu2328Val) single nucleotide variant Luscan-Lumish syndrome [RCV001217481] Chr3:47046603 [GRCh38]
Chr3:47088093 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.5872G>A (p.Ala1958Thr) single nucleotide variant Luscan-Lumish syndrome [RCV001218378] Chr3:47083908 [GRCh38]
Chr3:47125398 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.661G>C (p.Val221Leu) single nucleotide variant Luscan-Lumish syndrome [RCV001048326] Chr3:47123975 [GRCh38]
Chr3:47165465 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.4250G>T (p.Ser1417Ile) single nucleotide variant Luscan-Lumish syndrome [RCV001034024] Chr3:47120386 [GRCh38]
Chr3:47161876 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.523G>T (p.Ala175Ser) single nucleotide variant Luscan-Lumish syndrome [RCV001213480] Chr3:47124113 [GRCh38]
Chr3:47165603 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.1331C>T (p.Thr444Met) single nucleotide variant Luscan-Lumish syndrome [RCV001034088] Chr3:47123305 [GRCh38]
Chr3:47164795 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.1589GTT[1] (p.Cys531del) microsatellite Luscan-Lumish syndrome [RCV001034361] Chr3:47123042..47123044 [GRCh38]
Chr3:47164532..47164534 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.3475G>A (p.Glu1159Lys) single nucleotide variant Luscan-Lumish syndrome [RCV001212336] Chr3:47121161 [GRCh38]
Chr3:47162651 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.6895G>A (p.Gly2299Arg) single nucleotide variant Luscan-Lumish syndrome [RCV001040036] Chr3:47056889 [GRCh38]
Chr3:47098379 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.3710T>A (p.Phe1237Tyr) single nucleotide variant Luscan-Lumish syndrome [RCV001064530] Chr3:47120926 [GRCh38]
Chr3:47162416 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.2312C>G (p.Ser771Cys) single nucleotide variant Luscan-Lumish syndrome [RCV001247535] Chr3:47122324 [GRCh38]
Chr3:47163814 [GRCh37]
Chr3:3p21.31		 benign|uncertain significance
NM_014159.7(SETD2):c.2716C>T (p.Pro906Ser) single nucleotide variant Luscan-Lumish syndrome [RCV001212976] Chr3:47121920 [GRCh38]
Chr3:47163410 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.3098C>T (p.Thr1033Ile) single nucleotide variant Luscan-Lumish syndrome [RCV001055684] Chr3:47121538 [GRCh38]
Chr3:47163028 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.7355C>T (p.Ser2452Leu) single nucleotide variant Inborn genetic diseases [RCV002563159]|Luscan-Lumish syndrome [RCV001229267] Chr3:47019836 [GRCh38]
Chr3:47061326 [GRCh37]
Chr3:3p21.31		 conflicting interpretations of pathogenicity|uncertain significance
NM_014159.7(SETD2):c.4151A>G (p.Asn1384Ser) single nucleotide variant Luscan-Lumish syndrome [RCV001069560] Chr3:47120485 [GRCh38]
Chr3:47161975 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.2248G>A (p.Glu750Lys) single nucleotide variant Luscan-Lumish syndrome [RCV001062825] Chr3:47122388 [GRCh38]
Chr3:47163878 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.570GCCTCCACC[3] (p.Pro194_Pro196dup) microsatellite Luscan-Lumish syndrome [RCV001062936] Chr3:47124048..47124049 [GRCh38]
Chr3:47165538..47165539 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.7142C>A (p.Pro2381His) single nucleotide variant Luscan-Lumish syndrome [RCV001204757] Chr3:47042657 [GRCh38]
Chr3:47084147 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.6039G>A (p.Leu2013=) single nucleotide variant Luscan-Lumish syndrome [RCV001233335] Chr3:47083741 [GRCh38]
Chr3:47125231 [GRCh37]
Chr3:3p21.31		 benign|uncertain significance
NM_014159.7(SETD2):c.1590T>G (p.Cys530Trp) single nucleotide variant Luscan-Lumish syndrome [RCV001211080] Chr3:47123046 [GRCh38]
Chr3:47164536 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.3026T>C (p.Met1009Thr) single nucleotide variant Luscan-Lumish syndrome [RCV001034358]|Luscan-Lumish syndrome [RCV003224517] Chr3:47121610 [GRCh38]
Chr3:47163100 [GRCh37]
Chr3:3p21.31		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_014159.7(SETD2):c.5818A>G (p.Ser1940Gly) single nucleotide variant Inborn genetic diseases [RCV002552056]|Luscan-Lumish syndrome [RCV001034382] Chr3:47083962 [GRCh38]
Chr3:47125452 [GRCh37]
Chr3:3p21.31		 benign|uncertain significance
NM_014159.7(SETD2):c.1790G>A (p.Gly597Asp) single nucleotide variant Luscan-Lumish syndrome [RCV001034456] Chr3:47122846 [GRCh38]
Chr3:47164336 [GRCh37]
Chr3:3p21.31		 benign
NM_014159.7(SETD2):c.4124A>G (p.Asn1375Ser) single nucleotide variant Luscan-Lumish syndrome [RCV001063441] Chr3:47120512 [GRCh38]
Chr3:47162002 [GRCh37]
Chr3:3p21.31		 likely benign|uncertain significance
NM_014159.7(SETD2):c.4856A>T (p.Gln1619Leu) single nucleotide variant Luscan-Lumish syndrome [RCV001253536]|not provided [RCV001531387] Chr3:47103407 [GRCh38]
Chr3:47144897 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.5761G>T (p.Glu1921Ter) single nucleotide variant Luscan-Lumish syndrome [RCV001254166] Chr3:47084019 [GRCh38]
Chr3:47125509 [GRCh37]
Chr3:3p21.31		 pathogenic
NM_014159.7(SETD2):c.1337A>G (p.Tyr446Cys) single nucleotide variant Luscan-Lumish syndrome [RCV001349964] Chr3:47123299 [GRCh38]
Chr3:47164789 [GRCh37]
Chr3:3p21.31		 likely benign|uncertain significance
NM_014159.7(SETD2):c.4757A>G (p.His1586Arg) single nucleotide variant Luscan-Lumish syndrome [RCV001255163] Chr3:47106079 [GRCh38]
Chr3:47147569 [GRCh37]
Chr3:3p21.31		 likely pathogenic|uncertain significance
NM_014159.7(SETD2):c.7098+235C>T single nucleotide variant not provided [RCV001581284] Chr3:47046252 [GRCh38]
Chr3:47087742 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.2519A>G (p.Asn840Ser) single nucleotide variant Inborn genetic diseases [RCV004036244]|Luscan-Lumish syndrome [RCV001302644] Chr3:47122117 [GRCh38]
Chr3:47163607 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.1588T>C (p.Cys530Arg) single nucleotide variant Luscan-Lumish syndrome [RCV001333723] Chr3:47123048 [GRCh38]
Chr3:47164538 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.4840A>G (p.Ile1614Val) single nucleotide variant Luscan-Lumish syndrome [RCV001333726] Chr3:47103423 [GRCh38]
Chr3:47144913 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.1682A>G (p.Lys561Arg) single nucleotide variant Luscan-Lumish syndrome [RCV001303745] Chr3:47122954 [GRCh38]
Chr3:47164444 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.1700A>G (p.Asp567Gly) single nucleotide variant not provided [RCV002284928] Chr3:47122936 [GRCh38]
Chr3:47164426 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.1828_1829del (p.Glu610fs) microsatellite Inborn genetic diseases [RCV001266124] Chr3:47122807..47122808 [GRCh38]
Chr3:47164297..47164298 [GRCh37]
Chr3:3p21.31		 pathogenic
NM_014159.7(SETD2):c.1208G>C (p.Ser403Thr) single nucleotide variant Luscan-Lumish syndrome [RCV001342145] Chr3:47123428 [GRCh38]
Chr3:47164918 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.263T>A (p.Phe88Tyr) single nucleotide variant Luscan-Lumish syndrome [RCV001337377] Chr3:47124373 [GRCh38]
Chr3:47165863 [GRCh37]
Chr3:3p21.31		 likely benign|uncertain significance
NM_014159.7(SETD2):c.2195T>C (p.Leu732Ser) single nucleotide variant Luscan-Lumish syndrome [RCV001308794] Chr3:47122441 [GRCh38]
Chr3:47163931 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.5043A>G (p.Gly1681=) single nucleotide variant Luscan-Lumish syndrome [RCV001294710] Chr3:47098054 [GRCh38]
Chr3:47139544 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.3622G>C (p.Asp1208His) single nucleotide variant Luscan-Lumish syndrome [RCV001313491] Chr3:47121014 [GRCh38]
Chr3:47162504 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.1333C>T (p.Arg445Cys) single nucleotide variant Luscan-Lumish syndrome [RCV001328718] Chr3:47123303 [GRCh38]
Chr3:47164793 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.5475A>G (p.Gln1825=) single nucleotide variant Luscan-Lumish syndrome [RCV001316108] Chr3:47084305 [GRCh38]
Chr3:47125795 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.3358A>G (p.Ile1120Val) single nucleotide variant Luscan-Lumish syndrome [RCV001340119] Chr3:47121278 [GRCh38]
Chr3:47162768 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.5635C>T (p.Arg1879Cys) single nucleotide variant Luscan-Lumish syndrome [RCV001302348] Chr3:47084145 [GRCh38]
Chr3:47125635 [GRCh37]
Chr3:3p21.31		 pathogenic|uncertain significance
NM_014159.7(SETD2):c.2060G>A (p.Cys687Tyr) single nucleotide variant Luscan-Lumish syndrome [RCV001303945] Chr3:47122576 [GRCh38]
Chr3:47164066 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.281A>G (p.Asn94Ser) single nucleotide variant Luscan-Lumish syndrome [RCV001315546] Chr3:47124355 [GRCh38]
Chr3:47165845 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.1180T>C (p.Cys394Arg) single nucleotide variant Luscan-Lumish syndrome [RCV001341491]|not provided [RCV003225179] Chr3:47123456 [GRCh38]
Chr3:47164946 [GRCh37]
Chr3:3p21.31		 conflicting interpretations of pathogenicity|uncertain significance
NM_014159.7(SETD2):c.6670C>T (p.Pro2224Ser) single nucleotide variant Luscan-Lumish syndrome [RCV001313916] Chr3:47057114 [GRCh38]
Chr3:47098604 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.1697C>G (p.Ser566Cys) single nucleotide variant Autism [RCV004698544]|Luscan-Lumish syndrome [RCV001328719]|not provided [RCV003438743] Chr3:47122939 [GRCh38]
Chr3:47164429 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.2030C>T (p.Pro677Leu) single nucleotide variant Luscan-Lumish syndrome [RCV001328720] Chr3:47122606 [GRCh38]
Chr3:47164096 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.5865A>T (p.Glu1955Asp) single nucleotide variant Luscan-Lumish syndrome [RCV001363055] Chr3:47083915 [GRCh38]
Chr3:47125405 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.6502C>A (p.Pro2168Thr) single nucleotide variant Luscan-Lumish syndrome [RCV001361449] Chr3:47057282 [GRCh38]
Chr3:47098772 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.1911G>C (p.Lys637Asn) single nucleotide variant Luscan-Lumish syndrome [RCV001363268] Chr3:47122725 [GRCh38]
Chr3:47164215 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.2320G>C (p.Val774Leu) single nucleotide variant Luscan-Lumish syndrome [RCV004799589] Chr3:47122316 [GRCh38]
Chr3:47163806 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.7210A>G (p.Lys2404Glu) single nucleotide variant not provided [RCV001786757] Chr3:47042589 [GRCh38]
Chr3:47084079 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.5122C>A (p.Arg1708=) single nucleotide variant Luscan-Lumish syndrome [RCV001414513] Chr3:47097975 [GRCh38]
Chr3:47139465 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.6451C>T (p.Pro2151Ser) single nucleotide variant Luscan-Lumish syndrome [RCV001313436] Chr3:47057333 [GRCh38]
Chr3:47098823 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.3836G>C (p.Gly1279Ala) single nucleotide variant Luscan-Lumish syndrome [RCV001333724] Chr3:47120800 [GRCh38]
Chr3:47162290 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.4930G>A (p.Gly1644Arg) single nucleotide variant Luscan-Lumish syndrome [RCV001303150]|SETD2-related disorder [RCV004531086] Chr3:47101543 [GRCh38]
Chr3:47143033 [GRCh37]
Chr3:3p21.31		 likely benign|uncertain significance
NM_014159.7(SETD2):c.6257C>T (p.Ser2086Phe) single nucleotide variant Luscan-Lumish syndrome [RCV001360808] Chr3:47062199 [GRCh38]
Chr3:47103689 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.5918C>G (p.Pro1973Arg) single nucleotide variant Luscan-Lumish syndrome [RCV001373581] Chr3:47083862 [GRCh38]
Chr3:47125352 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.1984C>G (p.Gln662Glu) single nucleotide variant Luscan-Lumish syndrome [RCV001373827] Chr3:47122652 [GRCh38]
Chr3:47164142 [GRCh37]
Chr3:3p21.31		 benign|uncertain significance
NM_014159.7(SETD2):c.5015+39_5015+40del deletion Luscan-Lumish syndrome [RCV001807417]|not provided [RCV001536737] Chr3:47101418..47101419 [GRCh38]
Chr3:47142908..47142909 [GRCh37]
Chr3:3p21.31		 benign
NM_014159.7(SETD2):c.6739G>A (p.Val2247Ile) single nucleotide variant Luscan-Lumish syndrome [RCV001319911]|not provided [RCV004770047] Chr3:47057045 [GRCh38]
Chr3:47098535 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.1328G>A (p.Arg443Lys) single nucleotide variant Neurodevelopmental disorder [RCV001374953] Chr3:47123308 [GRCh38]
Chr3:47164798 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.6169C>T (p.Pro2057Ser) single nucleotide variant Inborn genetic diseases [RCV002546880]|Luscan-Lumish syndrome [RCV001339724] Chr3:47062287 [GRCh38]
Chr3:47103777 [GRCh37]
Chr3:3p21.31		 likely benign|uncertain significance
NM_014159.7(SETD2):c.6005C>T (p.Thr2002Ile) single nucleotide variant Luscan-Lumish syndrome [RCV001323862] Chr3:47083775 [GRCh38]
Chr3:47125265 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.2540T>C (p.Phe847Ser) single nucleotide variant Luscan-Lumish syndrome [RCV001303334] Chr3:47122096 [GRCh38]
Chr3:47163586 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.2323G>C (p.Val775Leu) single nucleotide variant Luscan-Lumish syndrome [RCV001350945] Chr3:47122313 [GRCh38]
Chr3:47163803 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.1669T>C (p.Ser557Pro) single nucleotide variant Inborn genetic diseases [RCV004034999]|Luscan-Lumish syndrome [RCV001320123] Chr3:47122967 [GRCh38]
Chr3:47164457 [GRCh37]
Chr3:3p21.31		 likely benign|uncertain significance
NM_014159.7(SETD2):c.1923A>G (p.Ile641Met) single nucleotide variant Luscan-Lumish syndrome [RCV001306609] Chr3:47122713 [GRCh38]
Chr3:47164203 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.4003C>T (p.Arg1335Cys) single nucleotide variant Luscan-Lumish syndrome [RCV001300380] Chr3:47120633 [GRCh38]
Chr3:47162123 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.2327A>C (p.Lys776Thr) single nucleotide variant Luscan-Lumish syndrome [RCV001342439] Chr3:47122309 [GRCh38]
Chr3:47163799 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.2044G>A (p.Asp682Asn) single nucleotide variant Luscan-Lumish syndrome [RCV001304111] Chr3:47122592 [GRCh38]
Chr3:47164082 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.2003C>A (p.Pro668His) single nucleotide variant Luscan-Lumish syndrome [RCV001298194] Chr3:47122633 [GRCh38]
Chr3:47164123 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.1798T>G (p.Leu600Val) single nucleotide variant Luscan-Lumish syndrome [RCV001347106]|not specified [RCV001820046] Chr3:47122838 [GRCh38]
Chr3:47164328 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.4733A>G (p.Glu1578Gly) single nucleotide variant Luscan-Lumish syndrome [RCV001347156] Chr3:47106103 [GRCh38]
Chr3:47147593 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.2278C>A (p.Leu760Ile) single nucleotide variant Luscan-Lumish syndrome [RCV001305811] Chr3:47122358 [GRCh38]
Chr3:47163848 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.4832A>C (p.Asn1611Thr) single nucleotide variant Luscan-Lumish syndrome [RCV001345178] Chr3:47106004 [GRCh38]
Chr3:47147494 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.5278A>C (p.Asn1760His) single nucleotide variant Luscan-Lumish syndrome [RCV001330485] Chr3:47086314 [GRCh38]
Chr3:47127804 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.419G>A (p.Gly140Asp) single nucleotide variant Luscan-Lumish syndrome [RCV001291672] Chr3:47124217 [GRCh38]
Chr3:47165707 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.1160C>T (p.Thr387Ile) single nucleotide variant Luscan-lumish syndrome [RCV001328717] Chr3:47123476 [GRCh38]
Chr3:47164966 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.2849G>A (p.Arg950His) single nucleotide variant Luscan-Lumish syndrome [RCV001345358]|not provided [RCV003136009] Chr3:47121787 [GRCh38]
Chr3:47163277 [GRCh37]
Chr3:3p21.31		 conflicting interpretations of pathogenicity|uncertain significance
NM_014159.7(SETD2):c.697G>A (p.Val233Ile) single nucleotide variant Luscan-Lumish syndrome [RCV001359459] Chr3:47123939 [GRCh38]
Chr3:47165429 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.4447A>T (p.Thr1483Ser) single nucleotide variant Luscan-Lumish syndrome [RCV001308147] Chr3:47120189 [GRCh38]
Chr3:47161679 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.2953G>C (p.Gly985Arg) single nucleotide variant Luscan-Lumish syndrome [RCV001304465] Chr3:47121683 [GRCh38]
Chr3:47163173 [GRCh37]
Chr3:3p21.31		 benign|uncertain significance
NM_014159.7(SETD2):c.6811_6813del (p.Ser2271del) deletion Luscan-Lumish syndrome [RCV001347888] Chr3:47056971..47056973 [GRCh38]
Chr3:47098461..47098463 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.5848C>T (p.Pro1950Ser) single nucleotide variant Luscan-Lumish syndrome [RCV001350586] Chr3:47083932 [GRCh38]
Chr3:47125422 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.2508T>G (p.Cys836Trp) single nucleotide variant Luscan-Lumish syndrome [RCV001309230] Chr3:47122128 [GRCh38]
Chr3:47163618 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.2982T>A (p.Asp994Glu) single nucleotide variant Luscan-Lumish syndrome [RCV001350152] Chr3:47121654 [GRCh38]
Chr3:47163144 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.5772G>T (p.Gln1924His) single nucleotide variant Luscan-Lumish syndrome [RCV001373248] Chr3:47084008 [GRCh38]
Chr3:47125498 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.3290A>G (p.Tyr1097Cys) single nucleotide variant Luscan-Lumish syndrome [RCV001295265] Chr3:47121346 [GRCh38]
Chr3:47162836 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.1576G>A (p.Ala526Thr) single nucleotide variant Luscan-Lumish syndrome [RCV001366141] Chr3:47123060 [GRCh38]
Chr3:47164550 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.1202G>A (p.Arg401Gln) single nucleotide variant Luscan-Lumish syndrome [RCV001366154]|Luscan-Lumish syndrome [RCV003224559] Chr3:47123434 [GRCh38]
Chr3:47164924 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.158G>A (p.Arg53Gln) single nucleotide variant Luscan-Lumish syndrome [RCV001296867] Chr3:47124478 [GRCh38]
Chr3:47165968 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.1256A>G (p.Tyr419Cys) single nucleotide variant Luscan-Lumish syndrome [RCV001324828] Chr3:47123380 [GRCh38]
Chr3:47164870 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.392C>A (p.Ser131Tyr) single nucleotide variant Luscan-Lumish syndrome [RCV001370151] Chr3:47124244 [GRCh38]
Chr3:47165734 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.395C>T (p.Pro132Leu) single nucleotide variant Luscan-Lumish syndrome [RCV001370921] Chr3:47124241 [GRCh38]
Chr3:47165731 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.6192C>G (p.Asp2064Glu) single nucleotide variant Luscan-Lumish syndrome [RCV001351017] Chr3:47062264 [GRCh38]
Chr3:47103754 [GRCh37]
Chr3:3p21.31		 uncertain significance
NC_000003.11:g.(?_47205324)_(47205434_?)dup duplication Luscan-Lumish syndrome [RCV001314628] Chr3:47205324..47205434 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.3400C>G (p.His1134Asp) single nucleotide variant Luscan-Lumish syndrome [RCV001371149] Chr3:47121236 [GRCh38]
Chr3:47162726 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.6240C>G (p.Ser2080=) single nucleotide variant Luscan-Lumish syndrome [RCV001421685] Chr3:47062216 [GRCh38]
Chr3:47103706 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.3851A>T (p.His1284Leu) single nucleotide variant Luscan-Lumish syndrome [RCV001366850]|not provided [RCV004793463] Chr3:47120785 [GRCh38]
Chr3:47162275 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.683C>T (p.Pro228Leu) single nucleotide variant Luscan-Lumish syndrome [RCV001330486] Chr3:47123953 [GRCh38]
Chr3:47165443 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.2785A>G (p.Ile929Val) single nucleotide variant Luscan-Lumish syndrome [RCV001367879] Chr3:47121851 [GRCh38]
Chr3:47163341 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.2083T>C (p.Leu695=) single nucleotide variant Luscan-Lumish syndrome [RCV001395615] Chr3:47122553 [GRCh38]
Chr3:47164043 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.6161C>T (p.Pro2054Leu) single nucleotide variant Luscan-Lumish syndrome [RCV001369137] Chr3:47062295 [GRCh38]
Chr3:47103785 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.1496C>T (p.Thr499Ile) single nucleotide variant Luscan-Lumish syndrome [RCV001291780] Chr3:47123140 [GRCh38]
Chr3:47164630 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.3659C>A (p.Thr1220Asn) single nucleotide variant Inborn genetic diseases [RCV004035586]|Luscan-Lumish syndrome [RCV001291822]|SETD2-related disorder [RCV004531069]|not provided [RCV004692412] Chr3:47120977 [GRCh38]
Chr3:47162467 [GRCh37]
Chr3:3p21.31		 likely benign|uncertain significance
NM_014159.7(SETD2):c.5830A>G (p.Ile1944Val) single nucleotide variant Luscan-Lumish syndrome [RCV001369300] Chr3:47083950 [GRCh38]
Chr3:47125440 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.5775A>C (p.Ser1925=) single nucleotide variant Luscan-Lumish syndrome [RCV001421427] Chr3:47084005 [GRCh38]
Chr3:47125495 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.2036C>T (p.Ala679Val) single nucleotide variant Luscan-Lumish syndrome [RCV001316982] Chr3:47122600 [GRCh38]
Chr3:47164090 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.1086T>A (p.Asp362Glu) single nucleotide variant Luscan-Lumish syndrome [RCV001369096] Chr3:47123550 [GRCh38]
Chr3:47165040 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.5397+10C>T single nucleotide variant Luscan-Lumish syndrome [RCV001412896] Chr3:47086185 [GRCh38]
Chr3:47127675 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.3063T>C (p.Cys1021=) single nucleotide variant Luscan-Lumish syndrome [RCV001394605] Chr3:47121573 [GRCh38]
Chr3:47163063 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.7187A>G (p.Lys2396Arg) single nucleotide variant Luscan-Lumish syndrome [RCV001308364] Chr3:47042612 [GRCh38]
Chr3:47084102 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.5057G>A (p.Arg1686Gln) single nucleotide variant Luscan-Lumish syndrome [RCV001324471]|not provided [RCV003135977] Chr3:47098040 [GRCh38]
Chr3:47139530 [GRCh37]
Chr3:3p21.31		 likely benign|uncertain significance
NM_014159.7(SETD2):c.6293+10C>T single nucleotide variant Luscan-Lumish syndrome [RCV001475048]|not provided [RCV004711670] Chr3:47062153 [GRCh38]
Chr3:47103643 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.6642A>G (p.Thr2214=) single nucleotide variant Luscan-Lumish syndrome [RCV001441053]|SETD2-related disorder [RCV004540333] Chr3:47057142 [GRCh38]
Chr3:47098632 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.6069T>A (p.Tyr2023Ter) single nucleotide variant Luscan-Lumish syndrome [RCV001387444] Chr3:47067110 [GRCh38]
Chr3:47108600 [GRCh37]
Chr3:3p21.31		 pathogenic
NM_014159.7(SETD2):c.6313A>G (p.Lys2105Glu) single nucleotide variant Luscan-Lumish syndrome [RCV001441098] Chr3:47057471 [GRCh38]
Chr3:47098961 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.1622G>A (p.Arg541Gln) single nucleotide variant Luscan-Lumish syndrome [RCV001520300] Chr3:47123014 [GRCh38]
Chr3:47164504 [GRCh37]
Chr3:3p21.31		 benign
NM_014159.7(SETD2):c.1149T>C (p.Leu383=) single nucleotide variant Luscan-Lumish syndrome [RCV001504611] Chr3:47123487 [GRCh38]
Chr3:47164977 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.7137G>A (p.Pro2379=) single nucleotide variant Luscan-Lumish syndrome [RCV001436034] Chr3:47042662 [GRCh38]
Chr3:47084152 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.2151A>C (p.Ser717=) single nucleotide variant Luscan-Lumish syndrome [RCV001486322] Chr3:47122485 [GRCh38]
Chr3:47163975 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.798C>T (p.His266=) single nucleotide variant Luscan-Lumish syndrome [RCV001461878] Chr3:47123838 [GRCh38]
Chr3:47165328 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.2133C>G (p.Val711=) single nucleotide variant Luscan-Lumish syndrome [RCV001483477] Chr3:47122503 [GRCh38]
Chr3:47163993 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.6414G>A (p.Gln2138=) single nucleotide variant Luscan-Lumish syndrome [RCV001436823] Chr3:47057370 [GRCh38]
Chr3:47098860 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.5154G>A (p.Glu1718=) single nucleotide variant Luscan-Lumish syndrome [RCV001418112] Chr3:47088236 [GRCh38]
Chr3:47129726 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.2096A>G (p.Asp699Gly) single nucleotide variant Luscan-Lumish syndrome [RCV001462584]|not provided [RCV003434248] Chr3:47122540 [GRCh38]
Chr3:47164030 [GRCh37]
Chr3:3p21.31		 likely benign|conflicting interpretations of pathogenicity
NM_014159.7(SETD2):c.6310T>G (p.Ser2104Ala) single nucleotide variant Luscan-Lumish syndrome [RCV001452323] Chr3:47057474 [GRCh38]
Chr3:47098964 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.6724G>A (p.Ala2242Thr) single nucleotide variant Luscan-Lumish syndrome [RCV001516741] Chr3:47057060 [GRCh38]
Chr3:47098550 [GRCh37]
Chr3:3p21.31		 benign
NM_014159.7(SETD2):c.436A>C (p.Lys146Gln) single nucleotide variant Luscan-Lumish syndrome [RCV001392928] Chr3:47124200 [GRCh38]
Chr3:47165690 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.1401G>A (p.Lys467=) single nucleotide variant Luscan-Lumish syndrome [RCV001477960] Chr3:47123235 [GRCh38]
Chr3:47164725 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.3833A>G (p.Tyr1278Cys) single nucleotide variant Luscan-Lumish syndrome [RCV001466923] Chr3:47120803 [GRCh38]
Chr3:47162293 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.3276A>G (p.Gln1092=) single nucleotide variant Luscan-Lumish syndrome [RCV001484229] Chr3:47121360 [GRCh38]
Chr3:47162850 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.5999A>G (p.Asp2000Gly) single nucleotide variant Luscan-Lumish syndrome [RCV001487557] Chr3:47083781 [GRCh38]
Chr3:47125271 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.4060G>A (p.Asp1354Asn) single nucleotide variant Luscan-Lumish syndrome [RCV001474594]|SETD2-related disorder [RCV004533829]|not provided [RCV001647297] Chr3:47120576 [GRCh38]
Chr3:47162066 [GRCh37]
Chr3:3p21.31		 benign|likely benign
NM_014159.7(SETD2):c.3342G>A (p.Glu1114=) single nucleotide variant Luscan-Lumish syndrome [RCV001493648] Chr3:47121294 [GRCh38]
Chr3:47162784 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.1915G>A (p.Glu639Lys) single nucleotide variant Luscan-Lumish syndrome [RCV001514543] Chr3:47122721 [GRCh38]
Chr3:47164211 [GRCh37]
Chr3:3p21.31		 benign
NM_014159.7(SETD2):c.1849C>T (p.Pro617Ser) single nucleotide variant Luscan-Lumish syndrome [RCV001419782] Chr3:47122787 [GRCh38]
Chr3:47164277 [GRCh37]
Chr3:3p21.31		 likely benign|conflicting interpretations of pathogenicity
NM_014159.7(SETD2):c.6747C>T (p.His2249=) single nucleotide variant Luscan-Lumish syndrome [RCV001438362] Chr3:47057037 [GRCh38]
Chr3:47098527 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.2202T>C (p.Asp734=) single nucleotide variant Luscan-Lumish syndrome [RCV001406687] Chr3:47122434 [GRCh38]
Chr3:47163924 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.5236G>T (p.Glu1746Ter) single nucleotide variant Luscan-Lumish syndrome [RCV001386079] Chr3:47088154 [GRCh38]
Chr3:47129644 [GRCh37]
Chr3:3p21.31		 pathogenic
NM_014159.7(SETD2):c.5277+121GTTT[6] microsatellite not provided [RCV001665080] Chr3:47087965..47087968 [GRCh38]
Chr3:47129455..47129458 [GRCh37]
Chr3:3p21.31		 benign
NM_014159.7(SETD2):c.6447A>G (p.Pro2149=) single nucleotide variant Luscan-Lumish syndrome [RCV001424869] Chr3:47057337 [GRCh38]
Chr3:47098827 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.6354A>G (p.Thr2118=) single nucleotide variant Luscan-Lumish syndrome [RCV001432813]|SETD2-related disorder [RCV004540316] Chr3:47057430 [GRCh38]
Chr3:47098920 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.7608G>A (p.Val2536=) single nucleotide variant Luscan-Lumish syndrome [RCV001407343] Chr3:47017180 [GRCh38]
Chr3:47058670 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.609A>C (p.Ser203=) single nucleotide variant Luscan-Lumish syndrome [RCV001444027] Chr3:47124027 [GRCh38]
Chr3:47165517 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.516A>G (p.Pro172=) single nucleotide variant Luscan-Lumish syndrome [RCV001446767] Chr3:47124120 [GRCh38]
Chr3:47165610 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.5177del (p.Gly1726fs) deletion Luscan-Lumish syndrome [RCV001390195] Chr3:47088213 [GRCh38]
Chr3:47129703 [GRCh37]
Chr3:3p21.31		 pathogenic
NM_014159.7(SETD2):c.840A>G (p.Lys280=) single nucleotide variant Luscan-Lumish syndrome [RCV001426255] Chr3:47123796 [GRCh38]
Chr3:47165286 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.5949_5951del (p.Glu1985del) deletion not provided [RCV001542067] Chr3:47083829..47083831 [GRCh38]
Chr3:47125319..47125321 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.6294-4C>G single nucleotide variant Luscan-Lumish syndrome [RCV001447560] Chr3:47057494 [GRCh38]
Chr3:47098984 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.827A>G (p.Asp276Gly) single nucleotide variant Luscan-Lumish syndrome [RCV001542273] Chr3:47123809 [GRCh38]
Chr3:47165299 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.4608G>A (p.Gly1536=) single nucleotide variant Luscan-Lumish syndrome [RCV001429387] Chr3:47113983 [GRCh38]
Chr3:47155473 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.5181G>A (p.Glu1727=) single nucleotide variant Luscan-Lumish syndrome [RCV001447324] Chr3:47088209 [GRCh38]
Chr3:47129699 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.2139A>T (p.Ala713=) single nucleotide variant Luscan-Lumish syndrome [RCV001424060] Chr3:47122497 [GRCh38]
Chr3:47163987 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.6387G>A (p.Val2129=) single nucleotide variant Luscan-Lumish syndrome [RCV001408763] Chr3:47057397 [GRCh38]
Chr3:47098887 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.2541T>C (p.Phe847=) single nucleotide variant Luscan-Lumish syndrome [RCV001447766] Chr3:47122095 [GRCh38]
Chr3:47163585 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.6999G>A (p.Gly2333=) single nucleotide variant Luscan-Lumish syndrome [RCV001445325] Chr3:47046586 [GRCh38]
Chr3:47088076 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.4590T>C (p.Ser1530=) single nucleotide variant Luscan-Lumish syndrome [RCV001419652] Chr3:47114001 [GRCh38]
Chr3:47155491 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.3324A>G (p.Ser1108=) single nucleotide variant Luscan-Lumish syndrome [RCV001438282] Chr3:47121312 [GRCh38]
Chr3:47162802 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.4839+92_4839+93del deletion not provided [RCV001645269] Chr3:47105904..47105905 [GRCh38]
Chr3:47147394..47147395 [GRCh37]
Chr3:3p21.31		 benign
NM_014159.7(SETD2):c.2985C>T (p.Asp995=) single nucleotide variant Luscan-Lumish syndrome [RCV001450414] Chr3:47121651 [GRCh38]
Chr3:47163141 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.588T>G (p.Pro196=) single nucleotide variant Luscan-Lumish syndrome [RCV001472670] Chr3:47124048 [GRCh38]
Chr3:47165538 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.5398-46_5398-45del deletion not provided [RCV001717167] Chr3:47084427..47084428 [GRCh38]
Chr3:47125917..47125918 [GRCh37]
Chr3:3p21.31		 benign
NM_014159.7(SETD2):c.6109+45C>T single nucleotide variant not provided [RCV001717168] Chr3:47067025 [GRCh38]
Chr3:47108515 [GRCh37]
Chr3:3p21.31		 benign
NM_014159.7(SETD2):c.5143-166_5143-164del deletion not provided [RCV001717170] Chr3:47088411..47088413 [GRCh38]
Chr3:47129901..47129903 [GRCh37]
Chr3:3p21.31		 benign
NM_014159.7(SETD2):c.7098+128T>C single nucleotide variant not provided [RCV001717172] Chr3:47046359 [GRCh38]
Chr3:47087849 [GRCh37]
Chr3:3p21.31		 benign
NM_014159.7(SETD2):c.5143-45del deletion not provided [RCV001717196] Chr3:47088292 [GRCh38]
Chr3:47129782 [GRCh37]
Chr3:3p21.31		 benign
NM_014159.7(SETD2):c.543A>C (p.Thr181=) single nucleotide variant Luscan-Lumish syndrome [RCV001496413] Chr3:47124093 [GRCh38]
Chr3:47165583 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.3287A>G (p.His1096Arg) single nucleotide variant Luscan-Lumish syndrome [RCV001516062] Chr3:47121349 [GRCh38]
Chr3:47162839 [GRCh37]
Chr3:3p21.31		 benign
NM_014159.7(SETD2):c.5626C>T (p.Leu1876=) single nucleotide variant Luscan-Lumish syndrome [RCV001486447] Chr3:47084154 [GRCh38]
Chr3:47125644 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.5142+249C>G single nucleotide variant not provided [RCV001671129] Chr3:47097706 [GRCh38]
Chr3:47139196 [GRCh37]
Chr3:3p21.31		 benign
NM_014159.7(SETD2):c.1248T>C (p.Asn416=) single nucleotide variant Luscan-Lumish syndrome [RCV001458922] Chr3:47123388 [GRCh38]
Chr3:47164878 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.2823G>A (p.Lys941=) single nucleotide variant Luscan-Lumish syndrome [RCV001462514] Chr3:47121813 [GRCh38]
Chr3:47163303 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.7063A>G (p.Ile2355Val) single nucleotide variant Luscan-Lumish syndrome [RCV001510308] Chr3:47046522 [GRCh38]
Chr3:47088012 [GRCh37]
Chr3:3p21.31		 benign
NM_014159.7(SETD2):c.7098+320C>T single nucleotide variant not provided [RCV001587142] Chr3:47046167 [GRCh38]
Chr3:47087657 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.4839+90_4839+93del deletion not provided [RCV001713857] Chr3:47105904..47105907 [GRCh38]
Chr3:47147394..47147397 [GRCh37]
Chr3:3p21.31		 benign
NM_014159.7(SETD2):c.173G>T (p.Gly58Val) single nucleotide variant Luscan-Lumish syndrome [RCV001528139] Chr3:47124463 [GRCh38]
Chr3:47165953 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.6789C>T (p.Gly2263=) single nucleotide variant Luscan-Lumish syndrome [RCV001477193] Chr3:47056995 [GRCh38]
Chr3:47098485 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.1632A>G (p.Ser544=) single nucleotide variant Luscan-Lumish syndrome [RCV001500438] Chr3:47123004 [GRCh38]
Chr3:47164494 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.1850C>T (p.Pro617Leu) single nucleotide variant Luscan-Lumish syndrome [RCV001517482] Chr3:47122786 [GRCh38]
Chr3:47164276 [GRCh37]
Chr3:3p21.31		 benign
NM_014159.7(SETD2):c.4545A>T (p.Ala1515=) single nucleotide variant Luscan-Lumish syndrome [RCV001470439] Chr3:47116664 [GRCh38]
Chr3:47158154 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.7238+269G>C single nucleotide variant not provided [RCV001591456] Chr3:47042292 [GRCh38]
Chr3:47083782 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.393C>T (p.Ser131=) single nucleotide variant Luscan-Lumish syndrome [RCV001498193] Chr3:47124243 [GRCh38]
Chr3:47165733 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.915A>G (p.Thr305=) single nucleotide variant Luscan-Lumish syndrome [RCV001481116] Chr3:47123721 [GRCh38]
Chr3:47165211 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.6883A>G (p.Ile2295Val) single nucleotide variant Luscan-Lumish syndrome [RCV001513332] Chr3:47056901 [GRCh38]
Chr3:47098391 [GRCh37]
Chr3:3p21.31		 benign
NM_014159.7(SETD2):c.6061-314_6061-313dup duplication not provided [RCV001592171] Chr3:47067406..47067407 [GRCh38]
Chr3:47108896..47108897 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.5143-55dup duplication not provided [RCV001714612] Chr3:47088291..47088292 [GRCh38]
Chr3:47129781..47129782 [GRCh37]
Chr3:3p21.31		 benign
NM_014159.7(SETD2):c.1732T>C (p.Leu578=) single nucleotide variant Luscan-Lumish syndrome [RCV001456957] Chr3:47122904 [GRCh38]
Chr3:47164394 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.5397+335_5397+336del microsatellite not provided [RCV001590598] Chr3:47085859..47085860 [GRCh38]
Chr3:47127349..47127350 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.6525C>T (p.Ala2175=) single nucleotide variant Luscan-Lumish syndrome [RCV001424958] Chr3:47057259 [GRCh38]
Chr3:47098749 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.1404A>G (p.Thr468=) single nucleotide variant Luscan-Lumish syndrome [RCV001458217] Chr3:47123232 [GRCh38]
Chr3:47164722 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.3271A>C (p.Ser1091Arg) single nucleotide variant Luscan-Lumish syndrome [RCV001509730] Chr3:47121365 [GRCh38]
Chr3:47162855 [GRCh37]
Chr3:3p21.31		 benign
NM_014159.7(SETD2):c.7332T>C (p.Tyr2444=) single nucleotide variant Luscan-Lumish syndrome [RCV001403511] Chr3:47037684 [GRCh38]
Chr3:47079174 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.3135A>G (p.Ser1045=) single nucleotide variant Luscan-Lumish syndrome [RCV001486357] Chr3:47121501 [GRCh38]
Chr3:47162991 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.7446C>T (p.Ile2482=) single nucleotide variant Luscan-Lumish syndrome [RCV001501969] Chr3:47017725 [GRCh38]
Chr3:47059215 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.7261A>G (p.Thr2421Ala) single nucleotide variant Luscan-Lumish syndrome [RCV001465751]|SETD2-related disorder [RCV004533804] Chr3:47037755 [GRCh38]
Chr3:47079245 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.7143C>G (p.Pro2381=) single nucleotide variant Luscan-Lumish syndrome [RCV001484674] Chr3:47042656 [GRCh38]
Chr3:47084146 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.5565C>A (p.Leu1855=) single nucleotide variant Luscan-Lumish syndrome [RCV001512916] Chr3:47084215 [GRCh38]
Chr3:47125705 [GRCh37]
Chr3:3p21.31		 benign
NM_014159.7(SETD2):c.1011T>C (p.His337=) single nucleotide variant Luscan-Lumish syndrome [RCV001478791] Chr3:47123625 [GRCh38]
Chr3:47165115 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.2997A>G (p.Val999=) single nucleotide variant Luscan-Lumish syndrome [RCV001443061]|not specified [RCV001820136] Chr3:47121639 [GRCh38]
Chr3:47163129 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.5016-7T>C single nucleotide variant Luscan-Lumish syndrome [RCV001497869] Chr3:47098088 [GRCh38]
Chr3:47139578 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.1008A>C (p.Ser336=) single nucleotide variant Luscan-Lumish syndrome [RCV001483327] Chr3:47123628 [GRCh38]
Chr3:47165118 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.3996A>G (p.Thr1332=) single nucleotide variant Luscan-Lumish syndrome [RCV001417743] Chr3:47120640 [GRCh38]
Chr3:47162130 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.989C>A (p.Thr330Asn) single nucleotide variant Luscan-Lumish syndrome [RCV001432472] Chr3:47123647 [GRCh38]
Chr3:47165137 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.3957G>C (p.Val1319=) single nucleotide variant Luscan-Lumish syndrome [RCV001393226] Chr3:47120679 [GRCh38]
Chr3:47162169 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.342T>C (p.Pro114=) single nucleotide variant Luscan-Lumish syndrome [RCV001483532] Chr3:47124294 [GRCh38]
Chr3:47165784 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.993T>C (p.Ser331=) single nucleotide variant Luscan-Lumish syndrome [RCV001454345] Chr3:47123643 [GRCh38]
Chr3:47165133 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.4734A>G (p.Glu1578=) single nucleotide variant Luscan-Lumish syndrome [RCV001404916] Chr3:47106102 [GRCh38]
Chr3:47147592 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.6969T>C (p.Tyr2323=) single nucleotide variant Luscan-Lumish syndrome [RCV001501235] Chr3:47046616 [GRCh38]
Chr3:47088106 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.1403C>T (p.Thr468Ile) single nucleotide variant Luscan-Lumish syndrome [RCV001516066] Chr3:47123233 [GRCh38]
Chr3:47164723 [GRCh37]
Chr3:3p21.31		 benign
NM_014159.7(SETD2):c.2505A>T (p.Ile835=) single nucleotide variant Luscan-Lumish syndrome [RCV001466932] Chr3:47122131 [GRCh38]
Chr3:47163621 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.1885_1887del (p.Lys629del) deletion not provided [RCV001756254] Chr3:47122749..47122751 [GRCh38]
Chr3:47164239..47164241 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.5122C>T (p.Arg1708Ter) single nucleotide variant Autism spectrum disorder [RCV003127362] Chr3:47097975 [GRCh38]
Chr3:47139465 [GRCh37]
Chr3:3p21.31		 likely pathogenic
NM_014159.7(SETD2):c.7004A>G (p.Gln2335Arg) single nucleotide variant Autism spectrum disorder [RCV003127363] Chr3:47046581 [GRCh38]
Chr3:47088071 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.4464T>G (p.Asn1488Lys) single nucleotide variant Autism spectrum disorder [RCV003127364] Chr3:47116745 [GRCh38]
Chr3:47158235 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.622G>A (p.Val208Ile) single nucleotide variant not provided [RCV003108274] Chr3:47124014 [GRCh38]
Chr3:47165504 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.4137C>T (p.Asp1379=) single nucleotide variant not provided [RCV001727244] Chr3:47120499 [GRCh38]
Chr3:47161989 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.4715+1G>C single nucleotide variant not provided [RCV001731239] Chr3:47113875 [GRCh38]
Chr3:47155365 [GRCh37]
Chr3:3p21.31		 not provided
NM_014159.7(SETD2):c.7030G>T (p.Val2344Leu) single nucleotide variant not provided [RCV001758454] Chr3:47046555 [GRCh38]
Chr3:47088045 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.1166A>G (p.Tyr389Cys) single nucleotide variant not provided [RCV001769429] Chr3:47123470 [GRCh38]
Chr3:47164960 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.6239C>G (p.Ser2080Cys) single nucleotide variant not provided [RCV001754123] Chr3:47062217 [GRCh38]
Chr3:47103707 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.3946A>G (p.Thr1316Ala) single nucleotide variant not provided [RCV001766931] Chr3:47120690 [GRCh38]
Chr3:47162180 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.2866G>A (p.Gly956Arg) single nucleotide variant not provided [RCV001763830] Chr3:47121770 [GRCh38]
Chr3:47163260 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.3896A>C (p.Tyr1299Ser) single nucleotide variant not provided [RCV001767815] Chr3:47120740 [GRCh38]
Chr3:47162230 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.316G>A (p.Val106Ile) single nucleotide variant not provided [RCV001763988] Chr3:47124320 [GRCh38]
Chr3:47165810 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.2909T>G (p.Leu970Trp) single nucleotide variant not provided [RCV001786679] Chr3:47121727 [GRCh38]
Chr3:47163217 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.2T>C (p.Met1Thr) single nucleotide variant not provided [RCV001752042] Chr3:47163923 [GRCh38]
Chr3:47205413 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.1855A>G (p.Asn619Asp) single nucleotide variant not provided [RCV001773273] Chr3:47122781 [GRCh38]
Chr3:47164271 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.2140T>C (p.Cys714Arg) single nucleotide variant not provided [RCV001768850] Chr3:47122496 [GRCh38]
Chr3:47163986 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.6712_6718del (p.Ser2238fs) deletion Luscan-Lumish syndrome [RCV001775269] Chr3:47057066..47057072 [GRCh38]
Chr3:47098556..47098562 [GRCh37]
Chr3:3p21.31		 pathogenic
NM_014159.7(SETD2):c.7447G>T (p.Val2483Phe) single nucleotide variant not provided [RCV001774006] Chr3:47017724 [GRCh38]
Chr3:47059214 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.3607C>T (p.Pro1203Ser) single nucleotide variant not provided [RCV001769306] Chr3:47121029 [GRCh38]
Chr3:47162519 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.2930C>T (p.Pro977Leu) single nucleotide variant not provided [RCV001768519] Chr3:47121706 [GRCh38]
Chr3:47163196 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.1105T>C (p.Ser369Pro) single nucleotide variant not provided [RCV001768599] Chr3:47123531 [GRCh38]
Chr3:47165021 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.1727C>T (p.Thr576Ile) single nucleotide variant not provided [RCV001774371] Chr3:47122909 [GRCh38]
Chr3:47164399 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.2254C>G (p.Leu752Val) single nucleotide variant not provided [RCV001761057] Chr3:47122382 [GRCh38]
Chr3:47163872 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.2593A>C (p.Asn865His) single nucleotide variant not provided [RCV001816348] Chr3:47122043 [GRCh38]
Chr3:47163533 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.2038G>A (p.Glu680Lys) single nucleotide variant not provided [RCV001758610] Chr3:47122598 [GRCh38]
Chr3:47164088 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.7346T>C (p.Met2449Thr) single nucleotide variant not specified [RCV001733654] Chr3:47037670 [GRCh38]
Chr3:47079160 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.1102C>T (p.Arg368Ter) single nucleotide variant Luscan-Lumish syndrome [RCV001784961] Chr3:47123534 [GRCh38]
Chr3:47165024 [GRCh37]
Chr3:3p21.31		 pathogenic
NM_014159.7(SETD2):c.4595G>A (p.Arg1532Gln) single nucleotide variant not provided [RCV001763789] Chr3:47113996 [GRCh38]
Chr3:47155486 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.5899G>A (p.Gly1967Ser) single nucleotide variant Luscan-Lumish syndrome [RCV001882912]|not provided [RCV001758810] Chr3:47083881 [GRCh38]
Chr3:47125371 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.4715+1G>A single nucleotide variant not provided [RCV001814651] Chr3:47113875 [GRCh38]
Chr3:47155365 [GRCh37]
Chr3:3p21.31		 not provided
NM_014159.7(SETD2):c.4454G>C (p.Arg1485Thr) single nucleotide variant not provided [RCV001814724] Chr3:47120182 [GRCh38]
Chr3:47161672 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.603A>G (p.Thr201=) single nucleotide variant not provided [RCV001814844] Chr3:47124033 [GRCh38]
Chr3:47165523 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.916G>A (p.Gly306Ser) single nucleotide variant Luscan-Lumish syndrome [RCV001885335]|not specified [RCV001819532] Chr3:47123720 [GRCh38]
Chr3:47165210 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.5475A>C (p.Gln1825His) single nucleotide variant not specified [RCV001819659] Chr3:47084305 [GRCh38]
Chr3:47125795 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.2002C>G (p.Pro668Ala) single nucleotide variant not specified [RCV001820277] Chr3:47122634 [GRCh38]
Chr3:47164124 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.5316A>G (p.Glu1772=) single nucleotide variant Luscan-Lumish syndrome [RCV002542612]|not specified [RCV001820351] Chr3:47086276 [GRCh38]
Chr3:47127766 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.-8C>A single nucleotide variant not specified [RCV001820578] Chr3:47163932 [GRCh38]
Chr3:47205422 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.3737T>G (p.Val1246Gly) single nucleotide variant not provided [RCV001816347] Chr3:47120899 [GRCh38]
Chr3:47162389 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.3168G>A (p.Ser1056=) single nucleotide variant Luscan-Lumish syndrome [RCV003224583]|SETD2-related disorder [RCV004536343]|not specified [RCV001822548] Chr3:47121468 [GRCh38]
Chr3:47162958 [GRCh37]
Chr3:3p21.31		 likely benign|uncertain significance
NM_014159.7(SETD2):c.435G>C (p.Lys145Asn) single nucleotide variant Intellectual developmental disorder, autosomal dominant 70 [RCV004558658]|not provided [RCV001814760] Chr3:47124201 [GRCh38]
Chr3:47165691 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.2431A>G (p.Asn811Asp) single nucleotide variant not specified [RCV001817695] Chr3:47122205 [GRCh38]
Chr3:47163695 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.6821A>C (p.Asp2274Ala) single nucleotide variant Luscan-Lumish syndrome [RCV001809186]|not provided [RCV002463039] Chr3:47056963 [GRCh38]
Chr3:47098453 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.93G>T (p.Lys31Asn) single nucleotide variant not provided [RCV001814728] Chr3:47124543 [GRCh38]
Chr3:47166033 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.1043A>G (p.Glu348Gly) single nucleotide variant not provided [RCV001806289] Chr3:47123593 [GRCh38]
Chr3:47165083 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.6167C>T (p.Thr2056Ile) single nucleotide variant Inborn genetic diseases [RCV002573379]|Luscan-Lumish syndrome [RCV002005277] Chr3:47062289 [GRCh38]
Chr3:47103779 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.5219G>A (p.Arg1740Gln) single nucleotide variant Intellectual developmental disorder, autosomal dominant 70 [RCV002467456]|Luscan-Lumish syndrome [RCV001823014]|not provided [RCV002259402] Chr3:47088171 [GRCh38]
Chr3:47129661 [GRCh37]
Chr3:3p21.31		 pathogenic|not provided
NM_014159.7(SETD2):c.6703G>C (p.Val2235Leu) single nucleotide variant Luscan-Lumish syndrome [RCV002020740] Chr3:47057081 [GRCh38]
Chr3:47098571 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.2102G>A (p.Ser701Asn) single nucleotide variant Luscan-Lumish syndrome [RCV001965311] Chr3:47122534 [GRCh38]
Chr3:47164024 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.4375C>T (p.Arg1459Ter) single nucleotide variant Luscan-Lumish syndrome [RCV001984731] Chr3:47120261 [GRCh38]
Chr3:47161751 [GRCh37]
Chr3:3p21.31		 pathogenic
NM_014159.7(SETD2):c.7468C>T (p.Arg2490Trp) single nucleotide variant Luscan-Lumish syndrome [RCV001986130] Chr3:47017703 [GRCh38]
Chr3:47059193 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.6981T>A (p.Ser2327Arg) single nucleotide variant Luscan-Lumish syndrome [RCV002041979] Chr3:47046604 [GRCh38]
Chr3:47088094 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.3087A>T (p.Glu1029Asp) single nucleotide variant Luscan-Lumish syndrome [RCV001895517] Chr3:47121549 [GRCh38]
Chr3:47163039 [GRCh37]
Chr3:3p21.31		 benign|uncertain significance
NM_014159.7(SETD2):c.2296A>G (p.Met766Val) single nucleotide variant Luscan-Lumish syndrome [RCV001908878] Chr3:47122340 [GRCh38]
Chr3:47163830 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.3808A>G (p.Thr1270Ala) single nucleotide variant Luscan-Lumish syndrome [RCV001890426] Chr3:47120828 [GRCh38]
Chr3:47162318 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.1957G>A (p.Asp653Asn) single nucleotide variant Luscan-Lumish syndrome [RCV001961310] Chr3:47122679 [GRCh38]
Chr3:47164169 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.3586T>C (p.Ser1196Pro) single nucleotide variant Inborn genetic diseases [RCV002556335]|Luscan-Lumish syndrome [RCV001943232] Chr3:47121050 [GRCh38]
Chr3:47162540 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.3979G>T (p.Val1327Leu) single nucleotide variant Luscan-Lumish syndrome [RCV001944191] Chr3:47120657 [GRCh38]
Chr3:47162147 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.5164C>G (p.Leu1722Val) single nucleotide variant Luscan-Lumish syndrome [RCV001933916] Chr3:47088226 [GRCh38]
Chr3:47129716 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.4792C>T (p.Arg1598Ter) single nucleotide variant Luscan-Lumish syndrome [RCV001993212] Chr3:47106044 [GRCh38]
Chr3:47147534 [GRCh37]
Chr3:3p21.31		 pathogenic
NM_014159.7(SETD2):c.2570G>C (p.Gly857Ala) single nucleotide variant Luscan-Lumish syndrome [RCV001992448] Chr3:47122066 [GRCh38]
Chr3:47163556 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.1841C>T (p.Ser614Phe) single nucleotide variant Luscan-Lumish syndrome [RCV001981243] Chr3:47122795 [GRCh38]
Chr3:47164285 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.1135A>G (p.Ser379Gly) single nucleotide variant Luscan-Lumish syndrome [RCV001990043] Chr3:47123501 [GRCh38]
Chr3:47164991 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.4454+5G>A single nucleotide variant Luscan-Lumish syndrome [RCV002047646] Chr3:47120177 [GRCh38]
Chr3:47161667 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.1562C>G (p.Thr521Ser) single nucleotide variant Luscan-Lumish syndrome [RCV001904346] Chr3:47123074 [GRCh38]
Chr3:47164564 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.2204C>A (p.Thr735Asn) single nucleotide variant Luscan-Lumish syndrome [RCV001885938] Chr3:47122432 [GRCh38]
Chr3:47163922 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.3568G>A (p.Val1190Met) single nucleotide variant Luscan-Lumish syndrome [RCV001981995] Chr3:47121068 [GRCh38]
Chr3:47162558 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.88-5T>A single nucleotide variant Luscan-Lumish syndrome [RCV001877763] Chr3:47124553 [GRCh38]
Chr3:47166043 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.5371G>C (p.Glu1791Gln) single nucleotide variant Luscan-Lumish syndrome [RCV002032012] Chr3:47086221 [GRCh38]
Chr3:47127711 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.1407C>T (p.Tyr469=) single nucleotide variant Luscan-Lumish syndrome [RCV002111679]|SETD2-related disorder [RCV004531378] Chr3:47123229 [GRCh38]
Chr3:47164719 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.650C>A (p.Thr217Lys) single nucleotide variant Luscan-Lumish syndrome [RCV002125002]|SETD2-related disorder [RCV004543827] Chr3:47123986 [GRCh38]
Chr3:47165476 [GRCh37]
Chr3:3p21.31		 benign|uncertain significance
NM_014159.7(SETD2):c.4383G>A (p.Lys1461=) single nucleotide variant Luscan-Lumish syndrome [RCV002164903] Chr3:47120253 [GRCh38]
Chr3:47161743 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.7625A>C (p.Glu2542Ala) single nucleotide variant Luscan-Lumish syndrome [RCV002086162] Chr3:47017163 [GRCh38]
Chr3:47058653 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.7682C>T (p.Thr2561Ile) single nucleotide variant Luscan-Lumish syndrome [RCV002074508] Chr3:47017106 [GRCh38]
Chr3:47058596 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.4455-12T>G single nucleotide variant Luscan-Lumish syndrome [RCV002169745] Chr3:47116766 [GRCh38]
Chr3:47158256 [GRCh37]
Chr3:3p21.31		 benign
NM_014159.7(SETD2):c.6854A>G (p.Gln2285Arg) single nucleotide variant not provided [RCV002223601] Chr3:47056930 [GRCh38]
Chr3:47098420 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.6963+20_6963+21del deletion Luscan-Lumish syndrome [RCV002109792] Chr3:47056800..47056801 [GRCh38]
Chr3:47098290..47098291 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.3237C>T (p.Pro1079=) single nucleotide variant Luscan-Lumish syndrome [RCV002079135] Chr3:47121399 [GRCh38]
Chr3:47162889 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.3765C>T (p.Leu1255=) single nucleotide variant Luscan-Lumish syndrome [RCV002191787] Chr3:47120871 [GRCh38]
Chr3:47162361 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.2016T>C (p.Asn672=) single nucleotide variant Luscan-Lumish syndrome [RCV002149431] Chr3:47122620 [GRCh38]
Chr3:47164110 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.1961C>G (p.Ser654Cys) single nucleotide variant Luscan-Lumish syndrome [RCV002095629] Chr3:47122675 [GRCh38]
Chr3:47164165 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.2205C>G (p.Thr735=) single nucleotide variant not provided [RCV002214286] Chr3:47122431 [GRCh38]
Chr3:47163921 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.5823A>G (p.Glu1941=) single nucleotide variant Luscan-Lumish syndrome [RCV002155566] Chr3:47083957 [GRCh38]
Chr3:47125447 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.3733C>T (p.His1245Tyr) single nucleotide variant Luscan-Lumish syndrome [RCV002244178] Chr3:47120903 [GRCh38]
Chr3:47162393 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.87+16C>T single nucleotide variant Luscan-Lumish syndrome [RCV002158314]|not provided [RCV004710425] Chr3:47126632 [GRCh38]
Chr3:47168122 [GRCh37]
Chr3:3p21.31		 benign
NM_014159.7(SETD2):c.5016-15A>G single nucleotide variant Luscan-Lumish syndrome [RCV002183448] Chr3:47098096 [GRCh38]
Chr3:47139586 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.636G>A (p.Val212=) single nucleotide variant Luscan-Lumish syndrome [RCV002120139] Chr3:47124000 [GRCh38]
Chr3:47165490 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.6293+10C>A single nucleotide variant Luscan-Lumish syndrome [RCV002202343] Chr3:47062153 [GRCh38]
Chr3:47103643 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.1263G>A (p.Arg421=) single nucleotide variant Luscan-Lumish syndrome [RCV002138060] Chr3:47123373 [GRCh38]
Chr3:47164863 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.3981A>G (p.Val1327=) single nucleotide variant Luscan-Lumish syndrome [RCV002143629] Chr3:47120655 [GRCh38]
Chr3:47162145 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.6306A>G (p.Pro2102=) single nucleotide variant Luscan-Lumish syndrome [RCV002160639] Chr3:47057478 [GRCh38]
Chr3:47098968 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.4293A>G (p.Val1431=) single nucleotide variant Luscan-Lumish syndrome [RCV002220228] Chr3:47120343 [GRCh38]
Chr3:47161833 [GRCh37]
Chr3:3p21.31		 benign
NM_014159.7(SETD2):c.6964-19T>G single nucleotide variant Luscan-Lumish syndrome [RCV002177719] Chr3:47046640 [GRCh38]
Chr3:47088130 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.5278-12C>T single nucleotide variant Luscan-Lumish syndrome [RCV002181026] Chr3:47086326 [GRCh38]
Chr3:47127816 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.5398-13dup duplication Luscan-Lumish syndrome [RCV002219763] Chr3:47084394..47084395 [GRCh38]
Chr3:47125884..47125885 [GRCh37]
Chr3:3p21.31		 benign
NM_014159.7(SETD2):c.2888AAG[2] (p.Glu965del) microsatellite See cases [RCV004584470] Chr3:47121740..47121742 [GRCh38]
Chr3:47163230..47163232 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.4320A>C (p.Pro1440=) single nucleotide variant Luscan-Lumish syndrome [RCV002102957] Chr3:47120316 [GRCh38]
Chr3:47161806 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.3836G>A (p.Gly1279Glu) single nucleotide variant Luscan-Lumish syndrome [RCV002101900] Chr3:47120800 [GRCh38]
Chr3:47162290 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.4752C>T (p.Leu1584=) single nucleotide variant Luscan-Lumish syndrome [RCV002102837] Chr3:47106084 [GRCh38]
Chr3:47147574 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.4586+12A>G single nucleotide variant Luscan-Lumish syndrome [RCV002219942] Chr3:47116611 [GRCh38]
Chr3:47158101 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.6708C>T (p.Ser2236=) single nucleotide variant Luscan-Lumish syndrome [RCV002142415] Chr3:47057076 [GRCh38]
Chr3:47098566 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.7039C>G (p.Gln2347Glu) single nucleotide variant Luscan-Lumish syndrome [RCV003110611] Chr3:47046546 [GRCh38]
Chr3:47088036 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.4427T>C (p.Ile1476Thr) single nucleotide variant Luscan-Lumish syndrome [RCV004776466] Chr3:47120209 [GRCh38]
Chr3:47161699 [GRCh37]
Chr3:3p21.31		 uncertain significance
NC_000003.11:g.(?_47079136)_(47454675_?)dup duplication Luscan-Lumish syndrome [RCV003116703] Chr3:47079136..47454675 [GRCh37]
Chr3:3p21.31		 uncertain significance
NC_000003.11:g.(?_45435946)_(49137751_?)dup duplication Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV003116297] Chr3:45435946..49137751 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.2362A>T (p.Thr788Ser) single nucleotide variant not provided [RCV003123230] Chr3:47122274 [GRCh38]
Chr3:47163764 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.868G>A (p.Glu290Lys) single nucleotide variant not provided [RCV004784320] Chr3:47123768 [GRCh38]
Chr3:47165258 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.4622A>G (p.Asn1541Ser) single nucleotide variant not provided [RCV003123306] Chr3:47113969 [GRCh38]
Chr3:47155459 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.6284dup (p.Asp2096fs) duplication Luscan-Lumish syndrome [RCV004788664] Chr3:47062171..47062172 [GRCh38]
Chr3:47103661..47103662 [GRCh37]
Chr3:3p21.31		 pathogenic
NM_014159.7(SETD2):c.2509G>C (p.Asp837His) single nucleotide variant not provided [RCV004786058] Chr3:47122127 [GRCh38]
Chr3:47163617 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.3103C>G (p.His1035Asp) single nucleotide variant not provided [RCV004776591] Chr3:47121533 [GRCh38]
Chr3:47163023 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.2342C>G (p.Thr781Arg) single nucleotide variant Rabin-Pappas syndrome [RCV004790144] Chr3:47122294 [GRCh38]
Chr3:47163784 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.5128C>T (p.Arg1710Cys) single nucleotide variant Luscan-Lumish syndrome [RCV002273070] Chr3:47097969 [GRCh38]
Chr3:47139459 [GRCh37]
Chr3:3p21.31		 likely benign|uncertain significance
NM_014159.7(SETD2):c.6020A>G (p.Asp2007Gly) single nucleotide variant not specified [RCV002271930] Chr3:47083760 [GRCh38]
Chr3:47125250 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.1387G>C (p.Glu463Gln) single nucleotide variant not specified [RCV002248186] Chr3:47123249 [GRCh38]
Chr3:47164739 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.5521_5522del (p.Asp1841fs) microsatellite Luscan-Lumish syndrome [RCV003152923] Chr3:47084258..47084259 [GRCh38]
Chr3:47125748..47125749 [GRCh37]
Chr3:3p21.31		 likely pathogenic
NM_014159.7(SETD2):c.3406G>A (p.Gly1136Arg) single nucleotide variant not provided [RCV002273548] Chr3:47121230 [GRCh38]
Chr3:47162720 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.3913T>C (p.Tyr1305His) single nucleotide variant not provided [RCV002273671] Chr3:47120723 [GRCh38]
Chr3:47162213 [GRCh37]
Chr3:3p21.31		 uncertain significance
Single allele deletion Luscan-Lumish syndrome [RCV002266628] Chr3:47142709..47168492 [GRCh38]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.473C>T (p.Ala158Val) single nucleotide variant not provided [RCV002267339] Chr3:47124163 [GRCh38]
Chr3:47165653 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.7168G>A (p.Val2390Ile) single nucleotide variant not provided [RCV002267226] Chr3:47042631 [GRCh38]
Chr3:47084121 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.2024G>A (p.Gly675Glu) single nucleotide variant not provided [RCV002276300] Chr3:47122612 [GRCh38]
Chr3:47164102 [GRCh37]
Chr3:3p21.31		 likely benign|uncertain significance
NM_014159.7(SETD2):c.3458T>C (p.Ile1153Thr) single nucleotide variant not provided [RCV002293088] Chr3:47121178 [GRCh38]
Chr3:47162668 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.3316T>C (p.Leu1106=) single nucleotide variant not provided [RCV002275553] Chr3:47121320 [GRCh38]
Chr3:47162810 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.6293G>C (p.Arg2098Thr) single nucleotide variant Luscan-Lumish syndrome [RCV002287225] Chr3:47062163 [GRCh38]
Chr3:47103653 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.1031G>A (p.Ser344Asn) single nucleotide variant Luscan-Lumish syndrome [RCV003774878]|See cases [RCV002275725] Chr3:47123605 [GRCh38]
Chr3:47165095 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.2504T>C (p.Ile835Thr) single nucleotide variant not provided [RCV002283017] Chr3:47122132 [GRCh38]
Chr3:47163622 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.5152G>A (p.Glu1718Lys) single nucleotide variant See cases [RCV003156148]|not provided [RCV002293873] Chr3:47088238 [GRCh38]
Chr3:47129728 [GRCh37]
Chr3:3p21.31		 likely pathogenic
NM_014159.7(SETD2):c.3565A>T (p.Thr1189Ser) single nucleotide variant Luscan-Lumish syndrome [RCV002266594] Chr3:47121071 [GRCh38]
Chr3:47162561 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.1601C>T (p.Pro534Leu) single nucleotide variant not provided [RCV002292120] Chr3:47123035 [GRCh38]
Chr3:47164525 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.7001A>G (p.Gln2334Arg) single nucleotide variant not provided [RCV002265205] Chr3:47046584 [GRCh38]
Chr3:47088074 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.1634A>G (p.Tyr545Cys) single nucleotide variant not provided [RCV002265230] Chr3:47123002 [GRCh38]
Chr3:47164492 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.3545G>A (p.Gly1182Asp) single nucleotide variant not provided [RCV002286218] Chr3:47121091 [GRCh38]
Chr3:47162581 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.4680A>G (p.Lys1560=) single nucleotide variant SETD2-related disorder [RCV004545272]|not provided [RCV002263322] Chr3:47113911 [GRCh38]
Chr3:47155401 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.3934A>G (p.Arg1312Gly) single nucleotide variant Luscan-Lumish syndrome [RCV002290114] Chr3:47120702 [GRCh38]
Chr3:47162192 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.1153A>G (p.Arg385Gly) single nucleotide variant not provided [RCV002269414] Chr3:47123483 [GRCh38]
Chr3:47164973 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.452T>C (p.Val151Ala) single nucleotide variant not provided [RCV002267219] Chr3:47124184 [GRCh38]
Chr3:47165674 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.5981G>A (p.Arg1994Lys) single nucleotide variant Luscan-Lumish syndrome [RCV002288392] Chr3:47083799 [GRCh38]
Chr3:47125289 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.-2C>T single nucleotide variant not provided [RCV002265125] Chr3:47163926 [GRCh38]
Chr3:47205416 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.2342C>T (p.Thr781Met) single nucleotide variant not provided [RCV002269482] Chr3:47122294 [GRCh38]
Chr3:47163784 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.5945dup (p.Asp1982fs) duplication Luscan-Lumish syndrome [RCV002291129] Chr3:47083834..47083835 [GRCh38]
Chr3:47125324..47125325 [GRCh37]
Chr3:3p21.31		 pathogenic
NM_014159.7(SETD2):c.1717_1720del (p.Phe573fs) microsatellite Luscan-Lumish syndrome [RCV003234971] Chr3:47122916..47122919 [GRCh38]
Chr3:47164406..47164409 [GRCh37]
Chr3:3p21.31		 likely pathogenic
NM_014159.7(SETD2):c.5218C>G (p.Arg1740Gly) single nucleotide variant Neurodevelopmental disorder [RCV002277658] Chr3:47088172 [GRCh38]
Chr3:47129662 [GRCh37]
Chr3:3p21.31		 uncertain significance
GRCh37/hg19 3p21.31(chr3:44948482-49115809)x1 copy number loss not provided [RCV002279744] Chr3:44948482..49115809 [GRCh37]
Chr3:3p21.31		 pathogenic
NM_014159.7(SETD2):c.2579G>T (p.Ser860Ile) single nucleotide variant Luscan-Lumish syndrome [RCV002289022] Chr3:47122057 [GRCh38]
Chr3:47163547 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.2749dup (p.Ser917fs) duplication Luscan-Lumish syndrome [RCV003150881] Chr3:47121886..47121887 [GRCh38]
Chr3:47163376..47163377 [GRCh37]
Chr3:3p21.31		 pathogenic
NM_014159.7(SETD2):c.5738A>C (p.Glu1913Ala) single nucleotide variant not provided [RCV002281264] Chr3:47084042 [GRCh38]
Chr3:47125532 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.6425A>G (p.Gln2142Arg) single nucleotide variant Inborn genetic diseases [RCV003261472] Chr3:47057359 [GRCh38]
Chr3:47098849 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.3067A>G (p.Ser1023Gly) single nucleotide variant Inborn genetic diseases [RCV003263224] Chr3:47121569 [GRCh38]
Chr3:47163059 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.3729A>G (p.Ile1243Met) single nucleotide variant Inborn genetic diseases [RCV003280050] Chr3:47120907 [GRCh38]
Chr3:47162397 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.3854A>C (p.Lys1285Thr) single nucleotide variant Inborn genetic diseases [RCV003282125] Chr3:47120782 [GRCh38]
Chr3:47162272 [GRCh37]
Chr3:3p21.31		 uncertain significance
GRCh37/hg19 3p21.31(chr3:47188373-47350231)x3 copy number gain not provided [RCV002473542] Chr3:47188373..47350231 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.6543C>A (p.Asn2181Lys) single nucleotide variant not provided [RCV003129003] Chr3:47057241 [GRCh38]
Chr3:47098731 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.1261A>T (p.Arg421Trp) single nucleotide variant Luscan-Lumish syndrome [RCV002470196] Chr3:47123375 [GRCh38]
Chr3:47164865 [GRCh37]
Chr3:3p21.31		 uncertain significance
GRCh37/hg19 3p21.31(chr3:47188373-47338349)x3 copy number gain not provided [RCV002474948] Chr3:47188373..47338349 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.2188A>G (p.Lys730Glu) single nucleotide variant Luscan-Lumish syndrome [RCV002468520] Chr3:47122448 [GRCh38]
Chr3:47163938 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.6917A>G (p.Tyr2306Cys) single nucleotide variant Luscan-Lumish syndrome [RCV002468527] Chr3:47056867 [GRCh38]
Chr3:47098357 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.1417A>G (p.Thr473Ala) single nucleotide variant Luscan-Lumish syndrome [RCV002470646] Chr3:47123219 [GRCh38]
Chr3:47164709 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.2751T>A (p.Ser917Arg) single nucleotide variant not provided [RCV002300892] Chr3:47121885 [GRCh38]
Chr3:47163375 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.5803_5804delinsCT (p.Glu1935Leu) indel Luscan-Lumish syndrome [RCV002295506] Chr3:47083976..47083977 [GRCh38]
Chr3:47125466..47125467 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.7343C>T (p.Pro2448Leu) single nucleotide variant Luscan-Lumish syndrome [RCV002299001] Chr3:47037673 [GRCh38]
Chr3:47079163 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.7021C>T (p.Pro2341Ser) single nucleotide variant not provided [RCV002300993]|not specified [RCV004526924] Chr3:47046564 [GRCh38]
Chr3:47088054 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.765G>C (p.Lys255Asn) single nucleotide variant Luscan-Lumish syndrome [RCV002838244] Chr3:47123871 [GRCh38]
Chr3:47165361 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.5627T>C (p.Leu1876Pro) single nucleotide variant not provided [RCV002462519] Chr3:47084153 [GRCh38]
Chr3:47125643 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.4634A>G (p.Gln1545Arg) single nucleotide variant not provided [RCV002462580] Chr3:47113957 [GRCh38]
Chr3:47155447 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.7467C>T (p.Tyr2489=) single nucleotide variant Luscan-Lumish syndrome [RCV002881543] Chr3:47017704 [GRCh38]
Chr3:47059194 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.165G>T (p.Leu55Phe) single nucleotide variant Inborn genetic diseases [RCV002836829] Chr3:47124471 [GRCh38]
Chr3:47165961 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.796C>T (p.His266Tyr) single nucleotide variant Intellectual developmental disorder, autosomal dominant 70 [RCV003333227]|Luscan-Lumish syndrome [RCV002904096] Chr3:47123840 [GRCh38]
Chr3:47165330 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.87+16C>G single nucleotide variant Luscan-Lumish syndrome [RCV002908028] Chr3:47126632 [GRCh38]
Chr3:47168122 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.6176G>A (p.Arg2059Lys) single nucleotide variant Luscan-Lumish syndrome [RCV003034663] Chr3:47062280 [GRCh38]
Chr3:47103770 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.1898T>G (p.Leu633Trp) single nucleotide variant Luscan-Lumish syndrome [RCV003073903] Chr3:47122738 [GRCh38]
Chr3:47164228 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.204G>A (p.Gln68=) single nucleotide variant Luscan-Lumish syndrome [RCV002995541] Chr3:47124432 [GRCh38]
Chr3:47165922 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.3441G>A (p.Gln1147=) single nucleotide variant not provided [RCV002512224] Chr3:47121195 [GRCh38]
Chr3:47162685 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.2885C>G (p.Ala962Gly) single nucleotide variant Inborn genetic diseases [RCV002773219] Chr3:47121751 [GRCh38]
Chr3:47163241 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.4587-3C>T single nucleotide variant Inborn genetic diseases [RCV002688118] Chr3:47114007 [GRCh38]
Chr3:47155497 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.4857A>G (p.Gln1619=) single nucleotide variant Luscan-Lumish syndrome [RCV002972604] Chr3:47103406 [GRCh38]
Chr3:47144896 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.3497A>G (p.Asp1166Gly) single nucleotide variant Inborn genetic diseases [RCV002817960] Chr3:47121139 [GRCh38]
Chr3:47162629 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.88-18T>C single nucleotide variant Luscan-Lumish syndrome [RCV003073858] Chr3:47124566 [GRCh38]
Chr3:47166056 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.1202G>T (p.Arg401Leu) single nucleotide variant Inborn genetic diseases [RCV002879522] Chr3:47123434 [GRCh38]
Chr3:47164924 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.7649A>C (p.Lys2550Thr) single nucleotide variant Luscan-Lumish syndrome [RCV002995234] Chr3:47017139 [GRCh38]
Chr3:47058629 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.79G>C (p.Glu27Gln) single nucleotide variant Luscan-Lumish syndrome [RCV004725289]|not provided [RCV002462416] Chr3:47126656 [GRCh38]
Chr3:47168146 [GRCh37]
Chr3:3p21.31		 likely benign|uncertain significance
NM_014159.7(SETD2):c.3591G>A (p.Arg1197=) single nucleotide variant Luscan-Lumish syndrome [RCV002870889] Chr3:47121045 [GRCh38]
Chr3:47162535 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.71+20C>A single nucleotide variant Luscan-Lumish syndrome [RCV002569960] Chr3:47163834 [GRCh38]
Chr3:47205324 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.1934G>A (p.Ser645Asn) single nucleotide variant Luscan-Lumish syndrome [RCV002800394] Chr3:47122702 [GRCh38]
Chr3:47164192 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.4042C>T (p.His1348Tyr) single nucleotide variant Inborn genetic diseases [RCV002849481] Chr3:47120594 [GRCh38]
Chr3:47162084 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.1540C>A (p.Leu514Ile) single nucleotide variant Luscan-Lumish syndrome [RCV002866296] Chr3:47123096 [GRCh38]
Chr3:47164586 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.1899G>C (p.Leu633Phe) single nucleotide variant Inborn genetic diseases [RCV002707701] Chr3:47122737 [GRCh38]
Chr3:47164227 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.5636G>A (p.Arg1879His) single nucleotide variant Luscan-Lumish syndrome [RCV002736715] Chr3:47084144 [GRCh38]
Chr3:47125634 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.1483T>C (p.Cys495Arg) single nucleotide variant Inborn genetic diseases [RCV002868838] Chr3:47123153 [GRCh38]
Chr3:47164643 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.1582A>G (p.Lys528Glu) single nucleotide variant Inborn genetic diseases [RCV002887041] Chr3:47123054 [GRCh38]
Chr3:47164544 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.4586+20C>T single nucleotide variant Luscan-Lumish syndrome [RCV002923056] Chr3:47116603 [GRCh38]
Chr3:47158093 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.6267G>A (p.Glu2089=) single nucleotide variant Luscan-Lumish syndrome [RCV003017926] Chr3:47062189 [GRCh38]
Chr3:47103679 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.2123C>T (p.Ser708Phe) single nucleotide variant Inborn genetic diseases [RCV002845862] Chr3:47122513 [GRCh38]
Chr3:47164003 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.2600T>C (p.Phe867Ser) single nucleotide variant Inborn genetic diseases [RCV002823392] Chr3:47122036 [GRCh38]
Chr3:47163526 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.7688del (p.Glu2562_Leu2563insTer) deletion not provided [RCV002510150] Chr3:47017100 [GRCh38]
Chr3:47058590 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.1608A>T (p.Glu536Asp) single nucleotide variant Inborn genetic diseases [RCV002821898] Chr3:47123028 [GRCh38]
Chr3:47164518 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.5777A>G (p.Gln1926Arg) single nucleotide variant Inborn genetic diseases [RCV002703904] Chr3:47084003 [GRCh38]
Chr3:47125493 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.3789T>A (p.Ser1263=) single nucleotide variant Luscan-Lumish syndrome [RCV002885948] Chr3:47120847 [GRCh38]
Chr3:47162337 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.2049G>T (p.Leu683Phe) single nucleotide variant not provided [RCV003059915] Chr3:47122587 [GRCh38]
Chr3:47164077 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.2537A>T (p.Lys846Ile) single nucleotide variant Inborn genetic diseases [RCV002697074] Chr3:47122099 [GRCh38]
Chr3:47163589 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.7602G>A (p.Glu2534=) single nucleotide variant Luscan-Lumish syndrome [RCV003082911] Chr3:47017186 [GRCh38]
Chr3:47058676 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.3321G>T (p.Glu1107Asp) single nucleotide variant Inborn genetic diseases [RCV002789218] Chr3:47121315 [GRCh38]
Chr3:47162805 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.5397+19T>C single nucleotide variant Luscan-Lumish syndrome [RCV002918014] Chr3:47086176 [GRCh38]
Chr3:47127666 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.4305G>T (p.Glu1435Asp) single nucleotide variant Inborn genetic diseases [RCV002872990] Chr3:47120331 [GRCh38]
Chr3:47161821 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.436A>G (p.Lys146Glu) single nucleotide variant Inborn genetic diseases [RCV002873068] Chr3:47124200 [GRCh38]
Chr3:47165690 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.3358A>C (p.Ile1120Leu) single nucleotide variant Inborn genetic diseases [RCV002697420] Chr3:47121278 [GRCh38]
Chr3:47162768 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.5467A>G (p.Ile1823Val) single nucleotide variant Inborn genetic diseases [RCV002664665]|Luscan-Lumish syndrome [RCV003754998] Chr3:47084313 [GRCh38]
Chr3:47125803 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.397C>A (p.Pro133Thr) single nucleotide variant Luscan-Lumish syndrome [RCV002801350] Chr3:47124239 [GRCh38]
Chr3:47165729 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.1367G>A (p.Arg456Gln) single nucleotide variant Luscan-Lumish syndrome [RCV002928173] Chr3:47123269 [GRCh38]
Chr3:47164759 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.2964A>G (p.Gly988=) single nucleotide variant Luscan-Lumish syndrome [RCV003005084] Chr3:47121672 [GRCh38]
Chr3:47163162 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.3776G>A (p.Gly1259Asp) single nucleotide variant Luscan-Lumish syndrome [RCV003042550] Chr3:47120860 [GRCh38]
Chr3:47162350 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.7101T>C (p.Ser2367=) single nucleotide variant Luscan-Lumish syndrome [RCV002802070] Chr3:47042698 [GRCh38]
Chr3:47084188 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.7143C>T (p.Pro2381=) single nucleotide variant Luscan-Lumish syndrome [RCV002647764] Chr3:47042656 [GRCh38]
Chr3:47084146 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.5547G>A (p.Ser1849=) single nucleotide variant Luscan-Lumish syndrome [RCV002942067]|SETD2-related disorder [RCV004545441] Chr3:47084233 [GRCh38]
Chr3:47125723 [GRCh37]
Chr3:3p21.31		 benign|likely benign
NM_014159.7(SETD2):c.5060G>T (p.Gly1687Val) single nucleotide variant Inborn genetic diseases [RCV002813563]|not provided [RCV003151918] Chr3:47098037 [GRCh38]
Chr3:47139527 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.3450A>G (p.Arg1150=) single nucleotide variant Luscan-Lumish syndrome [RCV003086627] Chr3:47121186 [GRCh38]
Chr3:47162676 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.2846G>T (p.Arg949Met) single nucleotide variant Inborn genetic diseases [RCV002920862] Chr3:47121790 [GRCh38]
Chr3:47163280 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.6061-11A>T single nucleotide variant Luscan-Lumish syndrome [RCV002922011] Chr3:47067129 [GRCh38]
Chr3:47108619 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.1310G>A (p.Ser437Asn) single nucleotide variant Luscan-Lumish syndrome [RCV002937198] Chr3:47123326 [GRCh38]
Chr3:47164816 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.5858A>G (p.Glu1953Gly) single nucleotide variant Inborn genetic diseases [RCV002935381] Chr3:47083922 [GRCh38]
Chr3:47125412 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.6869A>T (p.Gln2290Leu) single nucleotide variant Luscan-Lumish syndrome [RCV002647765] Chr3:47056915 [GRCh38]
Chr3:47098405 [GRCh37]
Chr3:3p21.31		 benign
NM_014159.7(SETD2):c.2483A>G (p.His828Arg) single nucleotide variant Inborn genetic diseases [RCV002835868] Chr3:47122153 [GRCh38]
Chr3:47163643 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.3243A>C (p.Glu1081Asp) single nucleotide variant Luscan-Lumish syndrome [RCV003064981] Chr3:47121393 [GRCh38]
Chr3:47162883 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.3439C>T (p.Gln1147Ter) single nucleotide variant Inborn genetic diseases [RCV002831836] Chr3:47121197 [GRCh38]
Chr3:47162687 [GRCh37]
Chr3:3p21.31		 pathogenic
NM_014159.7(SETD2):c.3719C>A (p.Ser1240Tyr) single nucleotide variant Inborn genetic diseases [RCV002717413] Chr3:47120917 [GRCh38]
Chr3:47162407 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.4715+5G>A single nucleotide variant Inborn genetic diseases [RCV002717436]|not specified [RCV004765708] Chr3:47113871 [GRCh38]
Chr3:47155361 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.4280T>G (p.Val1427Gly) single nucleotide variant Luscan-Lumish syndrome [RCV002791904] Chr3:47120356 [GRCh38]
Chr3:47161846 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.2568C>A (p.Ile856=) single nucleotide variant Luscan-Lumish syndrome [RCV002895562] Chr3:47122068 [GRCh38]
Chr3:47163558 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.88-21_88-20delinsTT indel Luscan-Lumish syndrome [RCV003060358] Chr3:47124568..47124569 [GRCh38]
Chr3:47166058..47166059 [GRCh37]
Chr3:3p21.31		 benign|uncertain significance
NM_014159.7(SETD2):c.1275T>G (p.Ser425=) single nucleotide variant Luscan-Lumish syndrome [RCV002647931] Chr3:47123361 [GRCh38]
Chr3:47164851 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.3143A>C (p.Glu1048Ala) single nucleotide variant Inborn genetic diseases [RCV002832718] Chr3:47121493 [GRCh38]
Chr3:47162983 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.7049C>A (p.Ala2350Glu) single nucleotide variant Luscan-Lumish syndrome [RCV002604715] Chr3:47046536 [GRCh38]
Chr3:47088026 [GRCh37]
Chr3:3p21.31		 benign
NM_014159.7(SETD2):c.596C>T (p.Ala199Val) single nucleotide variant Inborn genetic diseases [RCV002678862] Chr3:47124040 [GRCh38]
Chr3:47165530 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.133A>G (p.Met45Val) single nucleotide variant Luscan-Lumish syndrome [RCV002942320] Chr3:47124503 [GRCh38]
Chr3:47165993 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.6946A>G (p.Thr2316Ala) single nucleotide variant Luscan-Lumish syndrome [RCV002612312] Chr3:47056838 [GRCh38]
Chr3:47098328 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.4917+19A>G single nucleotide variant Luscan-Lumish syndrome [RCV003049631] Chr3:47103327 [GRCh38]
Chr3:47144817 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.7073C>A (p.Pro2358Gln) single nucleotide variant not specified [RCV003155760] Chr3:47046512 [GRCh38]
Chr3:47088002 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.4510_4511del (p.Leu1504fs) microsatellite not provided [RCV003131430] Chr3:47116698..47116699 [GRCh38]
Chr3:47158188..47158189 [GRCh37]
Chr3:3p21.31		 likely pathogenic
NM_014159.7(SETD2):c.4454+1G>A single nucleotide variant not provided [RCV003131432] Chr3:47120181 [GRCh38]
Chr3:47161671 [GRCh37]
Chr3:3p21.31		 likely pathogenic
NM_014159.7(SETD2):c.5585C>G (p.Thr1862Ser) single nucleotide variant not provided [RCV003154566] Chr3:47084195 [GRCh38]
Chr3:47125685 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.1454C>T (p.Thr485Ile) single nucleotide variant not provided [RCV003149416] Chr3:47123182 [GRCh38]
Chr3:47164672 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.1180_1182delinsAGA (p.Cys394Arg) indel not provided [RCV004781480] Chr3:47123454..47123456 [GRCh38]
Chr3:47164944..47164946 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.296A>G (p.Asp99Gly) single nucleotide variant not provided [RCV004779923] Chr3:47124340 [GRCh38]
Chr3:47165830 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.3220A>G (p.Lys1074Glu) single nucleotide variant Inborn genetic diseases [RCV003280964]|not provided [RCV003434740] Chr3:47121416 [GRCh38]
Chr3:47162906 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.2589T>A (p.Ser863=) single nucleotide variant Luscan-Lumish syndrome [RCV003224733] Chr3:47122047 [GRCh38]
Chr3:47163537 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.2070A>C (p.Lys690Asn) single nucleotide variant Luscan-Lumish syndrome [RCV003228655] Chr3:47122566 [GRCh38]
Chr3:47164056 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.1846G>A (p.Ala616Thr) single nucleotide variant Inborn genetic diseases [RCV003198847] Chr3:47122790 [GRCh38]
Chr3:47164280 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.3247A>C (p.Thr1083Pro) single nucleotide variant not provided [RCV003223139] Chr3:47121389 [GRCh38]
Chr3:47162879 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.3932G>A (p.Gly1311Asp) single nucleotide variant not provided [RCV003227326] Chr3:47120704 [GRCh38]
Chr3:47162194 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.7096C>T (p.Pro2366Ser) single nucleotide variant not provided [RCV003225404] Chr3:47046489 [GRCh38]
Chr3:47087979 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.4112A>G (p.Glu1371Gly) single nucleotide variant Inborn genetic diseases [RCV003200164] Chr3:47120524 [GRCh38]
Chr3:47162014 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.3605T>A (p.Leu1202Gln) single nucleotide variant Luscan-Lumish syndrome [RCV003142391] Chr3:47121031 [GRCh38]
Chr3:47162521 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.7432-4G>C single nucleotide variant not provided [RCV003136606] Chr3:47017743 [GRCh38]
Chr3:47059233 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.554C>T (p.Ser185Leu) single nucleotide variant not provided [RCV003136607] Chr3:47124082 [GRCh38]
Chr3:47165572 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.911A>C (p.Lys304Thr) single nucleotide variant Inborn genetic diseases [RCV004673846]|not provided [RCV003136608] Chr3:47123725 [GRCh38]
Chr3:47165215 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.1116_1119del (p.Asp372fs) microsatellite not provided [RCV003136619] Chr3:47123517..47123520 [GRCh38]
Chr3:47165007..47165010 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.2384G>C (p.Cys795Ser) single nucleotide variant not provided [RCV003136618] Chr3:47122252 [GRCh38]
Chr3:47163742 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.1846G>C (p.Ala616Pro) single nucleotide variant not provided [RCV003136617] Chr3:47122790 [GRCh38]
Chr3:47164280 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.2884G>C (p.Ala962Pro) single nucleotide variant not provided [RCV003136616] Chr3:47121752 [GRCh38]
Chr3:47163242 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.6090A>T (p.Gln2030His) single nucleotide variant not provided [RCV003136615] Chr3:47067089 [GRCh38]
Chr3:47108579 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.6931C>T (p.Pro2311Ser) single nucleotide variant not provided [RCV003136614] Chr3:47056853 [GRCh38]
Chr3:47098343 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.1912T>G (p.Ser638Ala) single nucleotide variant not provided [RCV003136613] Chr3:47122724 [GRCh38]
Chr3:47164214 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.1498T>C (p.Ser500Pro) single nucleotide variant not provided [RCV003136612] Chr3:47123138 [GRCh38]
Chr3:47164628 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.3331C>T (p.His1111Tyr) single nucleotide variant not provided [RCV003136611] Chr3:47121305 [GRCh38]
Chr3:47162795 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.4048T>A (p.Ser1350Thr) single nucleotide variant Luscan-Lumish syndrome [RCV003755014]|not provided [RCV003136610] Chr3:47120588 [GRCh38]
Chr3:47162078 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.1957G>C (p.Asp653His) single nucleotide variant not provided [RCV003136609] Chr3:47122679 [GRCh38]
Chr3:47164169 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.6325C>T (p.Arg2109Ter) single nucleotide variant not provided [RCV003159440] Chr3:47057459 [GRCh38]
Chr3:47098949 [GRCh37]
Chr3:3p21.31		 pathogenic
NM_014159.7(SETD2):c.2395G>A (p.Asp799Asn) single nucleotide variant Inborn genetic diseases [RCV003220971] Chr3:47122241 [GRCh38]
Chr3:47163731 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.408G>T (p.Arg136Ser) single nucleotide variant Teratoma [RCV003221387] Chr3:47124228 [GRCh38]
Chr3:47165718 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.6305C>T (p.Pro2102Leu) single nucleotide variant not provided [RCV003229372] Chr3:47057479 [GRCh38]
Chr3:47098969 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.7249T>C (p.Trp2417Arg) single nucleotide variant not provided [RCV003228509] Chr3:47037767 [GRCh38]
Chr3:47079257 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.1486A>C (p.Lys496Gln) single nucleotide variant not provided [RCV003323126] Chr3:47123150 [GRCh38]
Chr3:47164640 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.6641C>T (p.Thr2214Ile) single nucleotide variant not provided [RCV003323192] Chr3:47057143 [GRCh38]
Chr3:47098633 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.1897_1908del (p.Leu633_Phe636del) deletion not provided [RCV003319844] Chr3:47122728..47122739 [GRCh38]
Chr3:47164218..47164229 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.2047T>A (p.Leu683Met) single nucleotide variant not provided [RCV003325110] Chr3:47122589 [GRCh38]
Chr3:47164079 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.2105T>G (p.Val702Gly) single nucleotide variant not provided [RCV003328784] Chr3:47122531 [GRCh38]
Chr3:47164021 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.7431+3A>T single nucleotide variant not provided [RCV003327117] Chr3:47019757 [GRCh38]
Chr3:47061247 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.7642A>G (p.Met2548Val) single nucleotide variant not provided [RCV003329022] Chr3:47017146 [GRCh38]
Chr3:47058636 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.3064G>A (p.Asp1022Asn) single nucleotide variant not provided [RCV003328840] Chr3:47121572 [GRCh38]
Chr3:47163062 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.1352C>T (p.Thr451Ile) single nucleotide variant not provided [RCV003387684] Chr3:47123284 [GRCh38]
Chr3:47164774 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.2947G>A (p.Glu983Lys) single nucleotide variant Inborn genetic diseases [RCV003343159] Chr3:47121689 [GRCh38]
Chr3:47163179 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.3299A>G (p.His1100Arg) single nucleotide variant Inborn genetic diseases [RCV003383428] Chr3:47121337 [GRCh38]
Chr3:47162827 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.6901A>G (p.Thr2301Ala) single nucleotide variant Inborn genetic diseases [RCV003369179] Chr3:47056883 [GRCh38]
Chr3:47098373 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.5114A>G (p.Lys1705Arg) single nucleotide variant Inborn genetic diseases [RCV003366077] Chr3:47097983 [GRCh38]
Chr3:47139473 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.1295G>A (p.Arg432His) single nucleotide variant Inborn genetic diseases [RCV003375164] Chr3:47123341 [GRCh38]
Chr3:47164831 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.3012T>G (p.Asp1004Glu) single nucleotide variant Inborn genetic diseases [RCV003385064] Chr3:47121624 [GRCh38]
Chr3:47163114 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.6158C>T (p.Ala2053Val) single nucleotide variant Inborn genetic diseases [RCV003373350] Chr3:47062298 [GRCh38]
Chr3:47103788 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.1771C>T (p.Gln591Ter) single nucleotide variant Luscan-Lumish syndrome [RCV003333597] Chr3:47122865 [GRCh38]
Chr3:47164355 [GRCh37]
Chr3:3p21.31		 pathogenic
NM_014159.7(SETD2):c.4129A>G (p.Ile1377Val) single nucleotide variant Luscan-Lumish syndrome [RCV003875305] Chr3:47120507 [GRCh38]
Chr3:47161997 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.638C>G (p.Ala213Gly) single nucleotide variant Luscan-Lumish syndrome [RCV003448568] Chr3:47123998 [GRCh38]
Chr3:47165488 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.5752G>A (p.Glu1918Lys) single nucleotide variant not provided [RCV003443256] Chr3:47084028 [GRCh38]
Chr3:47125518 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.6095A>G (p.Glu2032Gly) single nucleotide variant not specified [RCV003479984] Chr3:47067084 [GRCh38]
Chr3:47108574 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.6950C>T (p.Pro2317Leu) single nucleotide variant Luscan-Lumish syndrome [RCV004577107] Chr3:47056834 [GRCh38]
Chr3:47098324 [GRCh37]
Chr3:3p21.31		 uncertain significance
GRCh37/hg19 3p21.31(chr3:47068320-47478497)x3 copy number gain not provided [RCV003484128] Chr3:47068320..47478497 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.3167C>T (p.Ser1056Leu) single nucleotide variant Inborn genetic diseases [RCV004364460]|Luscan-Lumish syndrome [RCV003592036]|SETD2-related disorder [RCV004536693] Chr3:47121469 [GRCh38]
Chr3:47162959 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.388T>C (p.Ser130Pro) single nucleotide variant SETD2-related disorder [RCV004529698] Chr3:47124248 [GRCh38]
Chr3:47165738 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.4605T>C (p.Asn1535=) single nucleotide variant not provided [RCV003437801] Chr3:47113986 [GRCh38]
Chr3:47155476 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.2093C>T (p.Ser698Phe) single nucleotide variant not provided [RCV003442592] Chr3:47122543 [GRCh38]
Chr3:47164033 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.6679C>T (p.Pro2227Ser) single nucleotide variant not provided [RCV003437797] Chr3:47057105 [GRCh38]
Chr3:47098595 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.5574T>C (p.Pro1858=) single nucleotide variant not provided [RCV003437799] Chr3:47084206 [GRCh38]
Chr3:47125696 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.7242G>T (p.Gln2414His) single nucleotide variant not provided [RCV003443748] Chr3:47037774 [GRCh38]
Chr3:47079264 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.620C>T (p.Pro207Leu) single nucleotide variant not provided [RCV004787277] Chr3:47124016 [GRCh38]
Chr3:47165506 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.4819A>G (p.Met1607Val) single nucleotide variant not provided [RCV003443308] Chr3:47106017 [GRCh38]
Chr3:47147507 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.5548C>A (p.Arg1850Ser) single nucleotide variant SETD2-related disorder [RCV004534279] Chr3:47084232 [GRCh38]
Chr3:47125722 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.6329T>C (p.Ile2110Thr) single nucleotide variant not provided [RCV003443280] Chr3:47057455 [GRCh38]
Chr3:47098945 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.536A>G (p.Glu179Gly) single nucleotide variant SETD2-related disorder [RCV004536647] Chr3:47124100 [GRCh38]
Chr3:47165590 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.913dup (p.Thr305fs) duplication SETD2-related disorder [RCV004528029] Chr3:47123722..47123723 [GRCh38]
Chr3:47165212..47165213 [GRCh37]
Chr3:3p21.31		 likely pathogenic
NM_014159.7(SETD2):c.3074G>A (p.Gly1025Asp) single nucleotide variant SETD2-related disorder [RCV004531623] Chr3:47121562 [GRCh38]
Chr3:47163052 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.11_22dup (p.Gln7_Pro8insLeuGlnProGln) duplication Luscan-Lumish syndrome [RCV003592042]|not provided [RCV003437806] Chr3:47163902..47163903 [GRCh38]
Chr3:47205392..47205393 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.4289A>G (p.Glu1430Gly) single nucleotide variant SETD2-related disorder [RCV004531764] Chr3:47120347 [GRCh38]
Chr3:47161837 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.2360A>C (p.Lys787Thr) single nucleotide variant not provided [RCV003433551] Chr3:47122276 [GRCh38]
Chr3:47163766 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.3793G>A (p.Glu1265Lys) single nucleotide variant not provided [RCV003443669] Chr3:47120843 [GRCh38]
Chr3:47162333 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.695A>T (p.Asp232Val) single nucleotide variant SETD2-related disorder [RCV004539012] Chr3:47123941 [GRCh38]
Chr3:47165431 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.2879A>G (p.Gln960Arg) single nucleotide variant SETD2-related disorder [RCV004536655] Chr3:47121757 [GRCh38]
Chr3:47163247 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.5792A>G (p.Gln1931Arg) single nucleotide variant SETD2-related disorder [RCV004531708] Chr3:47083988 [GRCh38]
Chr3:47125478 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.5322T>C (p.His1774=) single nucleotide variant not provided [RCV003437800] Chr3:47086270 [GRCh38]
Chr3:47127760 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.4200T>C (p.Asp1400=) single nucleotide variant not provided [RCV003437803] Chr3:47120436 [GRCh38]
Chr3:47161926 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.2871A>G (p.Lys957=) single nucleotide variant SETD2-related disorder [RCV004540671]|not provided [RCV003437804] Chr3:47121765 [GRCh38]
Chr3:47163255 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.772A>G (p.Thr258Ala) single nucleotide variant not provided [RCV003437805] Chr3:47123864 [GRCh38]
Chr3:47165354 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.6773C>T (p.Pro2258Leu) single nucleotide variant SETD2-related disorder [RCV004528671] Chr3:47057011 [GRCh38]
Chr3:47098501 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.1511T>C (p.Met504Thr) single nucleotide variant not provided [RCV003433552] Chr3:47123125 [GRCh38]
Chr3:47164615 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.6086G>A (p.Ser2029Asn) single nucleotide variant not provided [RCV003437798] Chr3:47067093 [GRCh38]
Chr3:47108583 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.4332G>A (p.Leu1444=) single nucleotide variant not provided [RCV003437802] Chr3:47120304 [GRCh38]
Chr3:47161794 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.650C>T (p.Thr217Ile) single nucleotide variant SETD2-related disorder [RCV004534294] Chr3:47123986 [GRCh38]
Chr3:47165476 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.4043A>G (p.His1348Arg) single nucleotide variant Luscan-Lumish syndrome [RCV003445324] Chr3:47120593 [GRCh38]
Chr3:47162083 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.1780T>A (p.Cys594Ser) single nucleotide variant not provided [RCV003442468] Chr3:47122856 [GRCh38]
Chr3:47164346 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.1438T>A (p.Tyr480Asn) single nucleotide variant not provided [RCV003442600] Chr3:47123198 [GRCh38]
Chr3:47164688 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.5660A>G (p.Asn1887Ser) single nucleotide variant not provided [RCV003442331] Chr3:47084120 [GRCh38]
Chr3:47125610 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.1757A>T (p.His586Leu) single nucleotide variant Luscan-Lumish syndrome [RCV003592468] Chr3:47122879 [GRCh38]
Chr3:47164369 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.4227G>A (p.Gln1409=) single nucleotide variant Luscan-Lumish syndrome [RCV003592482] Chr3:47120409 [GRCh38]
Chr3:47161899 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.347T>C (p.Met116Thr) single nucleotide variant Luscan-Lumish syndrome [RCV003592177] Chr3:47124289 [GRCh38]
Chr3:47165779 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.1931A>G (p.Asp644Gly) single nucleotide variant Luscan-Lumish syndrome [RCV003592548]|not provided [RCV004780571] Chr3:47122705 [GRCh38]
Chr3:47164195 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.5085C>T (p.Val1695=) single nucleotide variant Luscan-Lumish syndrome [RCV003592562] Chr3:47098012 [GRCh38]
Chr3:47139502 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.5016-17C>G single nucleotide variant Luscan-Lumish syndrome [RCV003592563] Chr3:47098098 [GRCh38]
Chr3:47139588 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.3036T>G (p.Ser1012Arg) single nucleotide variant Luscan-Lumish syndrome [RCV003592567] Chr3:47121600 [GRCh38]
Chr3:47163090 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.3187A>G (p.Arg1063Gly) single nucleotide variant Luscan-Lumish syndrome [RCV003592087] Chr3:47121449 [GRCh38]
Chr3:47162939 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.3317T>G (p.Leu1106Trp) single nucleotide variant Luscan-Lumish syndrome [RCV003831535] Chr3:47121319 [GRCh38]
Chr3:47162809 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.2972A>C (p.His991Pro) single nucleotide variant Luscan-Lumish syndrome [RCV003591361] Chr3:47121664 [GRCh38]
Chr3:47163154 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.5740A>G (p.Asn1914Asp) single nucleotide variant Luscan-Lumish syndrome [RCV003591500] Chr3:47084040 [GRCh38]
Chr3:47125530 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.2049G>C (p.Leu683Phe) single nucleotide variant Luscan-Lumish syndrome [RCV003591553] Chr3:47122587 [GRCh38]
Chr3:47164077 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.1604A>G (p.Asn535Ser) single nucleotide variant Luscan-Lumish syndrome [RCV003881393] Chr3:47123032 [GRCh38]
Chr3:47164522 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.273A>G (p.Ala91=) single nucleotide variant not provided [RCV004811930] Chr3:47124363 [GRCh38]
Chr3:47165853 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.7083T>A (p.Pro2361=) single nucleotide variant Luscan-Lumish syndrome [RCV003593098] Chr3:47046502 [GRCh38]
Chr3:47087992 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.5951A>G (p.Glu1984Gly) single nucleotide variant not provided [RCV004812046] Chr3:47083829 [GRCh38]
Chr3:47125319 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.4546T>C (p.Cys1516Arg) single nucleotide variant not provided [RCV004588875] Chr3:47116663 [GRCh38]
Chr3:47158153 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.2766G>A (p.Lys922=) single nucleotide variant not provided [RCV004585359] Chr3:47121870 [GRCh38]
Chr3:47163360 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.7515T>C (p.Phe2505=) single nucleotide variant Luscan-Lumish syndrome [RCV003755676] Chr3:47017656 [GRCh38]
Chr3:47059146 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.6156T>C (p.Pro2052=) single nucleotide variant Luscan-Lumish syndrome [RCV003815182] Chr3:47062300 [GRCh38]
Chr3:47103790 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.2273A>C (p.Asp758Ala) single nucleotide variant Luscan-Lumish syndrome [RCV003592661] Chr3:47122363 [GRCh38]
Chr3:47163853 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.569C>T (p.Pro190Leu) single nucleotide variant Luscan-Lumish syndrome [RCV003592722] Chr3:47124067 [GRCh38]
Chr3:47165557 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.5398-13del deletion Luscan-Lumish syndrome [RCV003755925] Chr3:47084395 [GRCh38]
Chr3:47125885 [GRCh37]
Chr3:3p21.31		 benign
NM_014159.7(SETD2):c.4362C>G (p.Phe1454Leu) single nucleotide variant Luscan-Lumish syndrome [RCV003755958] Chr3:47120274 [GRCh38]
Chr3:47161764 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.5278-11C>T single nucleotide variant Luscan-Lumish syndrome [RCV003756348] Chr3:47086325 [GRCh38]
Chr3:47127815 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.4587-7A>G single nucleotide variant Luscan-Lumish syndrome [RCV003592963] Chr3:47114011 [GRCh38]
Chr3:47155501 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.722C>T (p.Pro241Leu) single nucleotide variant Luscan-Lumish syndrome [RCV003756108] Chr3:47123914 [GRCh38]
Chr3:47165404 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.1870T>A (p.Ser624Thr) single nucleotide variant Luscan-Lumish syndrome [RCV003755461] Chr3:47122766 [GRCh38]
Chr3:47164256 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.1875T>G (p.Pro625=) single nucleotide variant Luscan-Lumish syndrome [RCV003592978] Chr3:47122761 [GRCh38]
Chr3:47164251 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.557C>G (p.Pro186Arg) single nucleotide variant Developmental disorder [RCV003764449] Chr3:47124079 [GRCh38]
Chr3:47165569 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.7290C>T (p.Ser2430=) single nucleotide variant Luscan-Lumish syndrome [RCV003840549] Chr3:47037726 [GRCh38]
Chr3:47079216 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.2272G>C (p.Asp758His) single nucleotide variant Luscan-Lumish syndrome [RCV003756028] Chr3:47122364 [GRCh38]
Chr3:47163854 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.3940C>T (p.Pro1314Ser) single nucleotide variant Luscan-Lumish syndrome [RCV003592714] Chr3:47120696 [GRCh38]
Chr3:47162186 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.1557A>G (p.Lys519=) single nucleotide variant Luscan-Lumish syndrome [RCV003592779] Chr3:47123079 [GRCh38]
Chr3:47164569 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.5760G>A (p.Glu1920=) single nucleotide variant Luscan-Lumish syndrome [RCV003755378] Chr3:47084020 [GRCh38]
Chr3:47125510 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.1340C>T (p.Ser447Phe) single nucleotide variant Luscan-Lumish syndrome [RCV003756154] Chr3:47123296 [GRCh38]
Chr3:47164786 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.4587-17T>G single nucleotide variant Luscan-Lumish syndrome [RCV003755269] Chr3:47114021 [GRCh38]
Chr3:47155511 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.4089C>G (p.Asp1363Glu) single nucleotide variant Luscan-Lumish syndrome [RCV003756188] Chr3:47120547 [GRCh38]
Chr3:47162037 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.996A>G (p.Ser332=) single nucleotide variant Luscan-Lumish syndrome [RCV003755359] Chr3:47123640 [GRCh38]
Chr3:47165130 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.6710G>T (p.Ser2237Ile) single nucleotide variant Luscan-Lumish syndrome [RCV003755379] Chr3:47057074 [GRCh38]
Chr3:47098564 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.4454+10A>G single nucleotide variant Luscan-Lumish syndrome [RCV003756201] Chr3:47120172 [GRCh38]
Chr3:47161662 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.1345C>A (p.Pro449Thr) single nucleotide variant Luscan-Lumish syndrome [RCV003755537] Chr3:47123291 [GRCh38]
Chr3:47164781 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.5277+11T>C single nucleotide variant Luscan-Lumish syndrome [RCV003756118] Chr3:47088102 [GRCh38]
Chr3:47129592 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.3670A>C (p.Asn1224His) single nucleotide variant Luscan-Lumish syndrome [RCV003755571] Chr3:47120966 [GRCh38]
Chr3:47162456 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.6700G>C (p.Glu2234Gln) single nucleotide variant Luscan-Lumish syndrome [RCV003756255] Chr3:47057084 [GRCh38]
Chr3:47098574 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.3519T>C (p.His1173=) single nucleotide variant Luscan-Lumish syndrome [RCV003756263] Chr3:47121117 [GRCh38]
Chr3:47162607 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.1152A>G (p.Glu384=) single nucleotide variant Luscan-Lumish syndrome [RCV003755823]|SETD2-related disorder [RCV004539068] Chr3:47123484 [GRCh38]
Chr3:47164974 [GRCh37]
Chr3:3p21.31		 benign|likely benign
NM_014159.7(SETD2):c.3941C>G (p.Pro1314Arg) single nucleotide variant Luscan-Lumish syndrome [RCV003756006] Chr3:47120695 [GRCh38]
Chr3:47162185 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.409G>A (p.Val137Met) single nucleotide variant Luscan-Lumish syndrome [RCV003756004] Chr3:47124227 [GRCh38]
Chr3:47165717 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.4767T>C (p.Phe1589=) single nucleotide variant Luscan-Lumish syndrome [RCV003755822]|SETD2-related disorder [RCV004539067] Chr3:47106069 [GRCh38]
Chr3:47147559 [GRCh37]
Chr3:3p21.31		 benign|likely benign
NM_014159.7(SETD2):c.6862C>A (p.Pro2288Thr) single nucleotide variant Luscan-Lumish syndrome [RCV003755975] Chr3:47056922 [GRCh38]
Chr3:47098412 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.1866T>C (p.Asn622=) single nucleotide variant Luscan-Lumish syndrome [RCV003593017] Chr3:47122770 [GRCh38]
Chr3:47164260 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.6942G>A (p.Gln2314=) single nucleotide variant Luscan-Lumish syndrome [RCV003755151] Chr3:47056842 [GRCh38]
Chr3:47098332 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.449A>G (p.His150Arg) single nucleotide variant Luscan-Lumish syndrome [RCV003591147] Chr3:47124187 [GRCh38]
Chr3:47165677 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.4302A>T (p.Gly1434=) single nucleotide variant Luscan-Lumish syndrome [RCV003822162] Chr3:47120334 [GRCh38]
Chr3:47161824 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.3571A>G (p.Lys1191Glu) single nucleotide variant Luscan-Lumish syndrome [RCV003823844] Chr3:47121065 [GRCh38]
Chr3:47162555 [GRCh37]
Chr3:3p21.31		 uncertain significance
NM_014159.7(SETD2):c.1347A>G (p.Pro449=) single nucleotide variant Luscan-Lumish syndrome [RCV003591263] Chr3:47123289 [GRCh38]
Chr3:47164779 [GRCh37]
Chr3:3p21.31		 likely benign
NM_014159.7(SETD2):c.7349A>G (p.Lys2450Arg) single nucleotide variant not provided [