EHMT1 (euchromatic histone lysine methyltransferase 1) - Rat Genome Database

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Gene: EHMT1 (euchromatic histone lysine methyltransferase 1) Homo sapiens
Analyze
Symbol: EHMT1
Name: euchromatic histone lysine methyltransferase 1
RGD ID: 1316868
HGNC Page HGNC:24650
Description: Enables histone H3K9 methyltransferase activity; p53 binding activity; and transcription corepressor binding activity. Involved in chromatin organization. Located in nuclear body. Implicated in Kleefstra syndrome and Kleefstra syndrome 1. Biomarker of esophagus squamous cell carcinoma.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: bA188C12.1; DEL9q34; DKFZp667M072; EHMT1 intronic transcript 1; EHMT1-IT1; Eu-HMTase1; euchromatic histone methyltransferase 1; euchromatic histone-lysine N-methyltransferase 1; EUHMTASE1; FLJ12879; FP13812; G9a like protein; G9a-like protein 1; GLP; GLP1; H3-K9-HMTase 5; histone H3-K9 methyltransferase 5; histone-lysine N-methyltransferase EHMT1; histone-lysine N-methyltransferase, H3 lysine-9 specific 5; KIAA1876; KLEFS1; KMT1D; lysine N-methyltransferase 1D; RP11-188C12.1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh389137,619,005 - 137,836,127 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl9137,618,992 - 137,870,016 (+)EnsemblGRCh38hg38GRCh38
GRCh379140,513,457 - 140,730,579 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 369139,725,238 - 139,850,400 (+)NCBINCBI36Build 36hg18NCBI36
Build 349137,881,253 - 138,006,413NCBI
Celera9111,130,415 - 111,256,878 (+)NCBICelera
Cytogenetic Map9q34.3NCBI
HuRef9109,975,406 - 110,193,755 (+)NCBIHuRef
CHM1_19140,662,174 - 140,878,710 (+)NCBICHM1_1
T2T-CHM13v2.09149,870,687 - 150,093,989 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


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

Human Phenotype
Abnormal cardiac septum morphology  (IAGP)
Abnormal cerebral white matter morphology  (IAGP)
Abnormal facial shape  (IAGP)
Abnormal heart morphology  (IAGP)
Abnormal pinna morphology  (IAGP)
Abnormal renal morphology  (IAGP)
Abnormal repetitive mannerisms  (IAGP)
Abnormal shape of the palpebral fissure  (IAGP)
Abnormal testis morphology  (IAGP)
Abnormality of the dentition  (IAGP)
Abnormality of the genital system  (IAGP)
Abnormality of the kidney  (IAGP)
Abnormality of the musculoskeletal system  (IAGP)
Absent septum pellucidum  (IAGP)
Agenesis of corpus callosum  (IAGP)
Aggressive behavior  (IAGP)
Anal atresia  (IAGP)
Anteverted nares  (IAGP)
Anxiety  (IAGP)
Aortic regurgitation  (IAGP)
Aortic valve stenosis  (IAGP)
Apathy  (IAGP)
Aphasia  (IAGP)
Atypical behavior  (IAGP)
Autism  (IAGP)
Autistic behavior  (IAGP)
Autosomal dominant inheritance  (IAGP)
Brachycephaly  (IAGP)
Brachydactyly  (IAGP)
Brain imaging abnormality  (IAGP)
Cerebellar hypoplasia  (IAGP)
Cerebral cortical atrophy  (IAGP)
Cerebral cortical hemiatrophy  (IAGP)
Coarctation of aorta  (IAGP)
Coarse facial features  (IAGP)
Compulsive behaviors  (IAGP)
Conotruncal defect  (IAGP)
Cryptorchidism  (IAGP)
Delayed gross motor development  (IAGP)
Delayed speech and language development  (IAGP)
Depression  (IAGP)
Developmental cataract  (IAGP)
Difficulty walking  (IAGP)
Downturned corners of mouth  (IAGP)
Echolalia  (IAGP)
Epileptic spasm  (IAGP)
Everted lower lip vermilion  (IAGP)
Failure to thrive  (IAGP)
Feeding difficulties  (IAGP)
Femoral hernia  (IAGP)
Flat face  (IAGP)
Flat occiput  (IAGP)
Gastroesophageal reflux  (IAGP)
Generalized hypotonia  (IAGP)
Generalized non-motor (absence) seizure  (IAGP)
Gliosis  (IAGP)
Global developmental delay  (IAGP)
Growth delay  (IAGP)
Hearing impairment  (IAGP)
Highly arched eyebrow  (IAGP)
Hyperextensible skin  (IAGP)
Hypermetropia  (IAGP)
Hypertelorism  (IAGP)
Hypoplasia of penis  (IAGP)
Hypoplasia of the corpus callosum  (IAGP)
Hypospadias  (IAGP)
Hypotonia  (IAGP)
Inguinal hernia  (IAGP)
Intellectual disability  (IAGP)
Intellectual disability, severe  (IAGP)
Irritability  (IAGP)
Language impairment  (IAGP)
Large for gestational age  (IAGP)
Macroglossia  (IAGP)
Malar flattening  (IAGP)
Mandibular prognathia  (IAGP)
Microcephaly  (IAGP)
Micropenis  (IAGP)
Midface retrusion  (IAGP)
Moderate receptive language delay  (IAGP)
Motor delay  (IAGP)
Mutism  (IAGP)
Natal tooth  (IAGP)
Obesity  (IAGP)
Overgrowth  (IAGP)
Persistence of primary teeth  (IAGP)
Plagiocephaly  (IAGP)
Polymicrogyria  (IAGP)
Precocious puberty  (IAGP)
Protruding tongue  (IAGP)
Recurrent infections  (IAGP)
Recurrent respiratory infections  (IAGP)
Renal insufficiency  (IAGP)
Schizophrenia  (IAGP)
Seizure  (IAGP)
Self-injurious behavior  (IAGP)
Severe expressive language delay  (IAGP)
Short nose  (IAGP)
Short stature  (IAGP)
Single transverse palmar crease  (IAGP)
Sleep abnormality  (IAGP)
Specific learning disability  (IAGP)
Sporadic  (IAGP)
Status epilepticus  (IAGP)
Subcortical cerebral atrophy  (IAGP)
Synophrys  (IAGP)
Talipes equinovarus  (IAGP)
Tapered finger  (IAGP)
Tetralogy of Fallot  (IAGP)
Thick lower lip vermilion  (IAGP)
Tracheobronchomalacia  (IAGP)
Tracheomalacia  (IAGP)
U-Shaped upper lip vermilion  (IAGP)
Umbilical hernia  (IAGP)
Uplifted earlobe  (IAGP)
Upslanted palpebral fissure  (IAGP)
Ventriculomegaly  (IAGP)
Vesicoureteral reflux  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Reduced exploration, increased anxiety, and altered social behavior: Autistic-like features of euchromatin histone methyltransferase 1 heterozygous knockout mice. Balemans MC, etal., Behav Brain Res. 2010 Mar 17;208(1):47-55. doi: 10.1016/j.bbr.2009.11.008. Epub 2009 Nov 5.
2. 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.
3. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
4. Analysis of EHMT1 expression and its correlations with clinical significance in esophageal squamous cell cancer. Guan X, etal., Mol Clin Oncol. 2014 Jan;2(1):76-80. Epub 2013 Oct 24.
5. Characterization of a novel transcript of the EHMT1 gene reveals important diagnostic implications for Kleefstra syndrome. Nillesen WM, etal., Hum Mutat. 2011 Jul;32(7):853-9. doi: 10.1002/humu.21523.
6. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
7. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
8. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
9. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
10. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
11. Kleefstra syndrome in three adult patients: further delineation of the behavioral and neurological phenotype shows aspects of a neurodegenerative course. Verhoeven WM, etal., Am J Med Genet A. 2011 Oct;155A(10):2409-15. doi: 10.1002/ajmg.a.34186. Epub 2011 Sep 9.
12. Overexpressions of G9a and MCM7 in Esophageal Squamous Cell Carcinoma Associated with Poor Prognosis. Zhong X, etal., Histopathology. 2014 May 7. doi: 10.1111/his.12456.
Additional References at PubMed
PMID:8889548   PMID:11347906   PMID:12004135   PMID:12168954   PMID:12477932   PMID:12700765   PMID:14702039   PMID:15489334   PMID:15805155   PMID:16147992   PMID:16501248   PMID:16537907  
PMID:16702210   PMID:16826528   PMID:17403666   PMID:17962312   PMID:18264113   PMID:19010785   PMID:19061646   PMID:19124506   PMID:19128641   PMID:19144645   PMID:19219047   PMID:19264732  
PMID:19505873   PMID:19531572   PMID:19843671   PMID:20005824   PMID:20084102   PMID:20118233   PMID:20211142   PMID:20360068   PMID:20379614   PMID:20453000   PMID:20562864   PMID:20588255  
PMID:20800603   PMID:20871592   PMID:20945554   PMID:20960050   PMID:21041608   PMID:21131967   PMID:21204793   PMID:21258344   PMID:21549307   PMID:21873635   PMID:22083728   PMID:22086334  
PMID:22659877   PMID:22726846   PMID:22801426   PMID:23034801   PMID:23232695   PMID:23275563   PMID:23541084   PMID:24082136   PMID:24196706   PMID:24389103   PMID:24457600   PMID:24981860  
PMID:25079219   PMID:25349628   PMID:25365549   PMID:25380126   PMID:25789554   PMID:25935252   PMID:26186194   PMID:26320100   PMID:26344197   PMID:26496610   PMID:26808425   PMID:26972000  
PMID:27052169   PMID:27588951   PMID:27609421   PMID:27634302   PMID:27651234   PMID:27705803   PMID:27767173   PMID:28057753   PMID:28135087   PMID:28514442   PMID:28608127   PMID:28611215  
PMID:28615290   PMID:28698370   PMID:28803780   PMID:29069077   PMID:29259012   PMID:29317598   PMID:29416845   PMID:29459631   PMID:29507755   PMID:29568061   PMID:29628311   PMID:29844126  
PMID:29855824   PMID:29860315   PMID:29955894   PMID:30063093   PMID:30804502   PMID:30948266   PMID:31160578   PMID:31182584   PMID:31209758   PMID:31527615   PMID:31666522   PMID:31682228  
PMID:31753913   PMID:31775874   PMID:32416067   PMID:32453339   PMID:32665550   PMID:32744500   PMID:32786267   PMID:32891193   PMID:33283949   PMID:33301849   PMID:33545068   PMID:33957083  
PMID:33961781   PMID:34079125   PMID:34214254   PMID:34265435   PMID:34357686   PMID:34588438   PMID:34619147   PMID:34857952   PMID:34897678   PMID:34954891   PMID:35140242   PMID:35241646  
PMID:35271311   PMID:35439318   PMID:35563538   PMID:35748872   PMID:35831314   PMID:35844135   PMID:35850772   PMID:36089195   PMID:36232890   PMID:36604567   PMID:37257768   PMID:37663929  
PMID:37689310   PMID:37894922   PMID:38297188  


Genomics

Comparative Map Data
EHMT1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh389137,619,005 - 137,836,127 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl9137,618,992 - 137,870,016 (+)EnsemblGRCh38hg38GRCh38
GRCh379140,513,457 - 140,730,579 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 369139,725,238 - 139,850,400 (+)NCBINCBI36Build 36hg18NCBI36
Build 349137,881,253 - 138,006,413NCBI
Celera9111,130,415 - 111,256,878 (+)NCBICelera
Cytogenetic Map9q34.3NCBI
HuRef9109,975,406 - 110,193,755 (+)NCBIHuRef
CHM1_19140,662,174 - 140,878,710 (+)NCBICHM1_1
T2T-CHM13v2.09149,870,687 - 150,093,989 (+)NCBIT2T-CHM13v2.0
Ehmt1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39224,680,781 - 24,809,658 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl224,679,940 - 24,809,626 (-)EnsemblGRCm39 Ensembl
GRCm38224,790,769 - 24,919,643 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl224,789,928 - 24,919,614 (-)EnsemblGRCm38mm10GRCm38
MGSCv37224,646,293 - 24,742,591 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36224,612,804 - 24,741,610 (-)NCBIMGSCv36mm8
Celera224,513,068 - 24,641,644 (-)NCBICelera
Cytogenetic Map2A3NCBI
cM Map216.73NCBI
Ehmt1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8327,978,888 - 28,127,178 (-)NCBIGRCr8
mRatBN7.237,580,680 - 7,729,046 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl37,580,683 - 7,729,007 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx310,684,555 - 10,777,264 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0319,270,788 - 19,363,493 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0317,460,616 - 17,553,324 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.031,966,974 - 2,123,858 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl31,960,957 - 2,123,820 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.031,951,004 - 2,106,608 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.433,074,136 - 3,169,921 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.133,074,159 - 3,225,936 (-)NCBI
Celera32,411,864 - 2,558,168 (-)NCBICelera
Cytogenetic Map3p13NCBI
Ehmt1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555135,547,313 - 5,641,499 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049555135,491,446 - 5,642,559 (+)NCBIChiLan1.0ChiLan1.0
EHMT1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2111,508,542 - 1,735,451 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan191,510,875 - 1,737,763 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v09108,724,568 - 108,951,077 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.19137,699,213 - 137,895,564 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl9137,764,950 - 137,895,564 (+)Ensemblpanpan1.1panPan2
EHMT1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1948,031,593 - 48,110,954 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl948,032,709 - 48,175,828 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha947,218,499 - 47,362,742 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0948,893,204 - 49,037,678 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl948,893,199 - 49,037,650 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1947,669,581 - 47,813,979 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0947,968,987 - 48,113,126 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0948,015,199 - 48,159,643 (-)NCBIUU_Cfam_GSD_1.0
Ehmt1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404947202,924,820 - 203,053,478 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936669321,249 - 423,018 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936669321,580 - 450,061 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
EHMT1
(Sus scrofa - pig)
No map positions available.
EHMT1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.112380,041 - 545,333 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl12379,943 - 497,033 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660584,899,940 - 5,005,236 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Ehmt1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_004624760272,493 - 379,780 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_004624760271,397 - 463,462 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in EHMT1
1617 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_024757.5(EHMT1):c.3304A>G (p.Ile1102Val) single nucleotide variant Kleefstra syndrome 1 [RCV000546811]|not provided [RCV002280126] Chr9:137815992 [GRCh38]
Chr9:140710444 [GRCh37]
Chr9:9q34.3
benign|uncertain significance
NM_024757.5(EHMT1):c.3181-8C>T single nucleotide variant Kleefstra syndrome 1 [RCV000530089] Chr9:137814423 [GRCh38]
Chr9:140708875 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.2937G>A (p.Ala979=) single nucleotide variant Kleefstra syndrome 1 [RCV000550417] Chr9:137813075 [GRCh38]
Chr9:140707527 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.2808C>T (p.Asn936=) single nucleotide variant Kleefstra syndrome 1 [RCV000544970] Chr9:137811556 [GRCh38]
Chr9:140706008 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.248A>G (p.Asp83Gly) single nucleotide variant Kleefstra syndrome 1 [RCV000529514] Chr9:137716788 [GRCh38]
Chr9:140611240 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.276G>A (p.Ala92=) single nucleotide variant Kleefstra syndrome 1 [RCV000532490] Chr9:137716816 [GRCh38]
Chr9:140611268 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.1337G>A (p.Arg446Gln) single nucleotide variant Kleefstra syndrome 1 [RCV000532553] Chr9:137754259 [GRCh38]
Chr9:140648711 [GRCh37]
Chr9:9q34.3
likely benign|uncertain significance
NM_024757.5(EHMT1):c.3181-80_3233del deletion Kleefstra syndrome 1 [RCV000034168] Chr9:137814351..137814483 [GRCh38]
Chr9:140708803..140708935 [GRCh37]
Chr9:9q34.3
pathogenic|not provided
NM_024757.5(EHMT1):c.3502C>T (p.Arg1168Ter) single nucleotide variant Kleefstra syndrome 1 [RCV000003789]|not provided [RCV001579482] Chr9:137818100 [GRCh38]
Chr9:140712552 [GRCh37]
Chr9:9q34.3
pathogenic|likely pathogenic
NM_024757.5(EHMT1):c.1413_1425del (p.Pro473fs) deletion Kleefstra syndrome 1 [RCV000003790] Chr9:137757919..137757931 [GRCh38]
Chr9:140652371..140652383 [GRCh37]
Chr9:9q34.3
pathogenic
NM_024757.5(EHMT1):c.3218G>A (p.Cys1073Tyr) single nucleotide variant Kleefstra syndrome 1 [RCV000003791] Chr9:137814468 [GRCh38]
Chr9:140708920 [GRCh37]
Chr9:9q34.3
pathogenic
NM_024757.5(EHMT1):c.871C>T (p.Arg291Ter) single nucleotide variant Kleefstra syndrome 1 [RCV000003792] Chr9:137743418 [GRCh38]
Chr9:140637870 [GRCh37]
Chr9:9q34.3
pathogenic
NM_024757.5(EHMT1):c.2958G>A (p.Trp986Ter) single nucleotide variant not provided [RCV000627313] Chr9:137813096 [GRCh38]
Chr9:140707548 [GRCh37]
Chr9:9q34.3
pathogenic
NM_024757.5(EHMT1):c.1438dup (p.Met480fs) duplication not provided [RCV003325389] Chr9:137757947..137757948 [GRCh38]
Chr9:140652399..140652400 [GRCh37]
Chr9:9q34.3
likely pathogenic
NM_024757.5(EHMT1):c.3258+1del deletion not provided [RCV000522856] Chr9:137814508 [GRCh38]
Chr9:140708960 [GRCh37]
Chr9:9q34.3
pathogenic
NM_024757.5(EHMT1):c.1122dup (p.Ser375fs) duplication not provided [RCV000522884] Chr9:137744041..137744042 [GRCh38]
Chr9:140638493..140638494 [GRCh37]
Chr9:9q34.3
pathogenic
GRCh38/hg38 9q34.3(chr9:137484248-137696525)x3 copy number gain See cases [RCV000052889] Chr9:137484248..137696525 [GRCh38]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.1044G>A (p.Ser348=) single nucleotide variant Inborn genetic diseases [RCV002311533]|Kleefstra syndrome 1 [RCV001510477]|not provided [RCV001711165]|not specified [RCV000082212] Chr9:137743964 [GRCh38]
Chr9:140638416 [GRCh37]
Chr9:9q34.3
benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_024757.5(EHMT1):c.1089T>C (p.Gly363=) single nucleotide variant Inborn genetic diseases [RCV002311534]|Kleefstra syndrome 1 [RCV001510478]|not provided [RCV001610342]|not specified [RCV000082213] Chr9:137744009 [GRCh38]
Chr9:140638461 [GRCh37]
Chr9:9q34.3
benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_024757.5(EHMT1):c.1368C>T (p.Leu456=) single nucleotide variant Inborn genetic diseases [RCV002311535]|Kleefstra syndrome 1 [RCV001516154]|not provided [RCV001719805]|not specified [RCV000082216] Chr9:137754290 [GRCh38]
Chr9:140648742 [GRCh37]
Chr9:9q34.3
benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_024757.5(EHMT1):c.1533_1536del (p.Asp512fs) microsatellite Kleefstra syndrome 1 [RCV000055956] Chr9:137762702..137762705 [GRCh38]
Chr9:140657154..140657157 [GRCh37]
Chr9:9q34.3
pathogenic|not provided
NM_024757.5(EHMT1):c.1806G>A (p.Glu602=) single nucleotide variant Inborn genetic diseases [RCV002316210]|Kleefstra syndrome 1 [RCV001430476]|not provided [RCV000945554] Chr9:137776632 [GRCh38]
Chr9:140671084 [GRCh37]
Chr9:9q34.3
benign|likely benign
NM_024757.5(EHMT1):c.1810C>T (p.Gln604Ter) single nucleotide variant Kleefstra syndrome 1 [RCV000055958] Chr9:137776636 [GRCh38]
Chr9:140671088 [GRCh37]
Chr9:9q34.3
pathogenic|not provided
NM_024757.5(EHMT1):c.1858C>T (p.Arg620Ter) single nucleotide variant Kleefstra syndrome 1 [RCV000055959]|not provided [RCV001268799] Chr9:137776684 [GRCh38]
Chr9:140671136 [GRCh37]
Chr9:9q34.3
pathogenic
NM_024757.5(EHMT1):c.2193-1G>C single nucleotide variant Inborn genetic diseases [RCV000623370]|Kleefstra syndrome 1 [RCV000055961] Chr9:137779634 [GRCh38]
Chr9:140674086 [GRCh37]
Chr9:9q34.3
pathogenic|not provided
NM_024757.5(EHMT1):c.2863_2864del (p.Val955fs) microsatellite Kleefstra syndrome 1 [RCV000055962] Chr9:137811608..137811609 [GRCh38]
Chr9:140706060..140706061 [GRCh37]
Chr9:9q34.3
pathogenic|not provided
NM_024757.5(EHMT1):c.2868-1G>A single nucleotide variant Kleefstra syndrome 1 [RCV000055963] Chr9:137813005 [GRCh38]
Chr9:140707457 [GRCh37]
Chr9:9q34.3
pathogenic|not provided
NM_024757.5(EHMT1):c.3180+1G>T single nucleotide variant Kleefstra syndrome 1 [RCV000055965] Chr9:137813531 [GRCh38]
Chr9:140707983 [GRCh37]
Chr9:9q34.3
pathogenic|not provided
NM_024757.5(EHMT1):c.3229C>T (p.Gln1077Ter) single nucleotide variant Kleefstra syndrome 1 [RCV000055966] Chr9:137814479 [GRCh38]
Chr9:140708931 [GRCh37]
Chr9:9q34.3
pathogenic|not provided
NM_024757.5(EHMT1):c.3589C>T (p.Arg1197Trp) single nucleotide variant Kleefstra syndrome 1 [RCV000055967] Chr9:137834397 [GRCh38]
Chr9:140728849 [GRCh37]
Chr9:9q34.3
pathogenic|likely pathogenic
NM_024757.5(EHMT1):c.444T>C (p.Pro148=) single nucleotide variant Inborn genetic diseases [RCV002311536]|Kleefstra syndrome 1 [RCV001510476]|not provided [RCV001618240]|not specified [RCV000082239] Chr9:137716984 [GRCh38]
Chr9:140611436 [GRCh37]
Chr9:9q34.3
benign|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 9q34.3(chr9:136323974-138014606)x1 copy number loss See cases [RCV000050344] Chr9:136323974..138014606 [GRCh38]
Chr9:139218428..140909058 [GRCh37]
Chr9:138338249..140028879 [NCBI36]
Chr9:9q34.3
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000050348] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9q34.3(chr9:137778047-137818152)x1 copy number loss See cases [RCV000050853] Chr9:137778047..137818152 [GRCh38]
Chr9:140672499..140712604 [GRCh37]
Chr9:139792320..139832425 [NCBI36]
Chr9:9q34.3
pathogenic
GRCh38/hg38 9q33.2-34.3(chr9:121112395-138075224)x3 copy number gain See cases [RCV000051009] Chr9:121112395..138075224 [GRCh38]
Chr9:123874673..140969676 [GRCh37]
Chr9:122914494..140089497 [NCBI36]
Chr9:9q33.2-34.3
pathogenic
GRCh38/hg38 9q34.3(chr9:137778047-137862670)x1 copy number loss See cases [RCV000051124] Chr9:137778047..137862670 [GRCh38]
Chr9:140672499..140757122 [GRCh37]
Chr9:139792320..139876943 [NCBI36]
Chr9:9q34.3
pathogenic
GRCh38/hg38 9q33.2-34.3(chr9:122792658-138124532)x3 copy number gain See cases [RCV000051040] Chr9:122792658..138124532 [GRCh38]
Chr9:125554937..141018984 [GRCh37]
Chr9:124594758..140138805 [NCBI36]
Chr9:9q33.2-34.3
pathogenic
GRCh38/hg38 9q34.3(chr9:136323974-138124532)x1 copy number loss See cases [RCV000051116] Chr9:136323974..138124532 [GRCh38]
Chr9:139218428..141018984 [GRCh37]
Chr9:138338249..140138805 [NCBI36]
Chr9:9q34.3
pathogenic
GRCh38/hg38 9q34.2-34.3(chr9:134428674-138154922)x1 copy number loss See cases [RCV000052936] Chr9:134428674..138154922 [GRCh38]
Chr9:137320520..141049374 [GRCh37]
Chr9:136460341..140169195 [NCBI36]
Chr9:9q34.2-34.3
pathogenic
GRCh38/hg38 9q34.3(chr9:137345965-137640771)x1 copy number loss See cases [RCV000052888] Chr9:137345965..137640771 [GRCh38]
Chr9:140240417..140535223 [GRCh37]
Chr9:139360238..139655044 [NCBI36]
Chr9:9q34.3
uncertain significance
GRCh38/hg38 9q34.3(chr9:137484248-137696525)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052889]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052889]|See cases [RCV000052889] Chr9:137484248..137696525 [GRCh38]
Chr9:140378700..140590977 [GRCh37]
Chr9:139498521..139710798 [NCBI36]
Chr9:9q34.3
uncertain significance
GRCh38/hg38 9q34.3(chr9:137215877-137830604)x1 copy number loss See cases [RCV000052951] Chr9:137215877..137830604 [GRCh38]
Chr9:140110329..140725056 [GRCh37]
Chr9:139230150..139844877 [NCBI36]
Chr9:9q34.3
pathogenic
GRCh38/hg38 9q34.3(chr9:137484248-138179445)x1 copy number loss See cases [RCV000052952] Chr9:137484248..138179445 [GRCh38]
Chr9:140378700..141073897 [GRCh37]
Chr9:139498521..140193718 [NCBI36]
Chr9:9q34.3
pathogenic
GRCh38/hg38 9q34.3(chr9:137514943-138121473)x1 copy number loss See cases [RCV000052953] Chr9:137514943..138121473 [GRCh38]
Chr9:140409395..141015925 [GRCh37]
Chr9:139529216..140135746 [NCBI36]
Chr9:9q34.3
pathogenic
GRCh38/hg38 9q34.3(chr9:137574369-138041809)x1 copy number loss See cases [RCV000052954] Chr9:137574369..138041809 [GRCh38]
Chr9:140468821..140936261 [GRCh37]
Chr9:139588642..140056082 [NCBI36]
Chr9:9q34.3
pathogenic
GRCh38/hg38 9q34.3(chr9:137598355-138091769)x1 copy number loss See cases [RCV000052955] Chr9:137598355..138091769 [GRCh38]
Chr9:140492807..140986221 [GRCh37]
Chr9:139612628..140106042 [NCBI36]
Chr9:9q34.3
pathogenic
GRCh38/hg38 9q34.3(chr9:137620211-137958459)x1 copy number loss See cases [RCV000052956] Chr9:137620211..137958459 [GRCh38]
Chr9:140514663..140852911 [GRCh37]
Chr9:139634484..139972732 [NCBI36]
Chr9:9q34.3
pathogenic
GRCh38/hg38 9q34.3(chr9:137743457-137836015)x1 copy number loss See cases [RCV000052957] Chr9:137743457..137836015 [GRCh38]
Chr9:140637909..140730467 [GRCh37]
Chr9:139757730..139850288 [NCBI36]
Chr9:9q34.3
pathogenic
GRCh38/hg38 9q34.3(chr9:136015976-138124532)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052938]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052938]|See cases [RCV000052938] Chr9:136015976..138124532 [GRCh38]
Chr9:138907822..141018984 [GRCh37]
Chr9:138047643..140138805 [NCBI36]
Chr9:9q34.3
pathogenic
GRCh38/hg38 9q34.3(chr9:136926575-138114463)x1 copy number loss See cases [RCV000052940] Chr9:136926575..138114463 [GRCh38]
Chr9:139821027..141008915 [GRCh37]
Chr9:138940848..140128736 [NCBI36]
Chr9:9q34.3
pathogenic
GRCh38/hg38 9q34.3(chr9:137215877-138138735)x1 copy number loss See cases [RCV000052941] Chr9:137215877..138138735 [GRCh38]
Chr9:140110329..141033187 [GRCh37]
Chr9:139230150..140153008 [NCBI36]
Chr9:9q34.3
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3 copy number gain See cases [RCV000053746] Chr9:193412..138114463 [GRCh38]
Chr9:214367..141008915 [GRCh37]
Chr9:204367..140128736 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|See cases [RCV000053748] Chr9:193412..138179445 [GRCh38]
Chr9:266045..141073897 [GRCh37]
Chr9:256045..140193718 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9q34.2-34.3(chr9:134174698-138138735)x3 copy number gain See cases [RCV000053814] Chr9:134174698..138138735 [GRCh38]
Chr9:137091194..141033187 [GRCh37]
Chr9:136029641..140153008 [NCBI36]
Chr9:9q34.2-34.3
pathogenic
GRCh38/hg38 9q34.3(chr9:137640712-137892491)x3 copy number gain See cases [RCV000053815] Chr9:137640712..137892491 [GRCh38]
Chr9:140535164..140786943 [GRCh37]
Chr9:139654985..139906764 [NCBI36]
Chr9:9q34.3
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124532)x3 copy number gain See cases [RCV000053745] Chr9:193412..138124532 [GRCh38]
Chr9:204193..141018984 [GRCh37]
Chr9:194193..140138805 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9q33.2-34.3(chr9:121586837-138179445)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053776]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053776]|See cases [RCV000053776] Chr9:121586837..138179445 [GRCh38]
Chr9:124349116..141073897 [GRCh37]
Chr9:123388937..140193718 [NCBI36]
Chr9:9q33.2-34.3
pathogenic
NM_024757.5(EHMT1):c.128C>G (p.Ala43Gly) single nucleotide variant Inborn genetic diseases [RCV002313823]|Kleefstra syndrome 1 [RCV000401691]|not provided [RCV001705780]|not specified [RCV000082214] Chr9:137716668 [GRCh38]
Chr9:140611120 [GRCh37]
Chr9:9q34.3
benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_024757.5(EHMT1):c.129A>T (p.Ala43=) single nucleotide variant Inborn genetic diseases [RCV002311715]|Kleefstra syndrome 1 [RCV000297721]|not provided [RCV001618258]|not specified [RCV000082215] Chr9:137716669 [GRCh38]
Chr9:140611121 [GRCh37]
Chr9:9q34.3
benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_024757.5(EHMT1):c.1369+9C>T single nucleotide variant Kleefstra syndrome 1 [RCV000387937]|not provided [RCV002262626]|not specified [RCV000082217] Chr9:137754300 [GRCh38]
Chr9:140648752 [GRCh37]
Chr9:9q34.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_024757.5(EHMT1):c.1501+13G>T single nucleotide variant Kleefstra syndrome 1 [RCV001510479]|not provided [RCV001711582]|not specified [RCV000082218] Chr9:137758024 [GRCh38]
Chr9:140652476 [GRCh37]
Chr9:9q34.3
benign
NM_024757.5(EHMT1):c.1648-20C>T single nucleotide variant Kleefstra syndrome 1 [RCV001517981]|not provided [RCV001668208]|not specified [RCV000082219] Chr9:137775089 [GRCh38]
Chr9:140669541 [GRCh37]
Chr9:9q34.3
benign
NM_024757.5(EHMT1):c.1743C>T (p.Arg581=) single nucleotide variant Inborn genetic diseases [RCV002316270]|Kleefstra syndrome 1 [RCV000535789]|not provided [RCV001711583]|not specified [RCV000082220] Chr9:137775204 [GRCh38]
Chr9:140669656 [GRCh37]
Chr9:9q34.3
benign|likely benign
NM_024757.5(EHMT1):c.1869C>T (p.Asn623=) single nucleotide variant Inborn genetic diseases [RCV002311716]|Kleefstra syndrome 1 [RCV000310564]|not provided [RCV001689630]|not specified [RCV000082221] Chr9:137776695 [GRCh38]
Chr9:140671147 [GRCh37]
Chr9:9q34.3
benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_024757.5(EHMT1):c.2128G>A (p.Gly710Ser) single nucleotide variant Kleefstra syndrome 1 [RCV001034502]|not provided [RCV000082222] Chr9:137777991 [GRCh38]
Chr9:140672443 [GRCh37]
Chr9:9q34.3
benign|uncertain significance
NM_024757.5(EHMT1):c.2186C>T (p.Ser729Leu) single nucleotide variant Inborn genetic diseases [RCV002426646]|Kleefstra syndrome 1 [RCV000263726]|not provided [RCV000082223] Chr9:137778049 [GRCh38]
Chr9:140672501 [GRCh37]
Chr9:9q34.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024757.5(EHMT1):c.2356G>C (p.Val786Leu) single nucleotide variant not provided [RCV000082224] Chr9:137782371 [GRCh38]
Chr9:140676823 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.2509G>A (p.Ala837Thr) single nucleotide variant Kleefstra syndrome 1 [RCV001304186]|not provided [RCV000082225] Chr9:137798816 [GRCh38]
Chr9:140693268 [GRCh37]
Chr9:9q34.3
likely benign|uncertain significance
NM_024757.5(EHMT1):c.2705G>A (p.Arg902Gln) single nucleotide variant Kleefstra syndrome 1 [RCV001081690]|not provided [RCV000082226] Chr9:137800977 [GRCh38]
Chr9:140695429 [GRCh37]
Chr9:9q34.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024757.5(EHMT1):c.3000C>T (p.Pro1000=) single nucleotide variant Inborn genetic diseases [RCV002311717]|Kleefstra syndrome 1 [RCV000283812]|not provided [RCV001711259]|not specified [RCV000082227] Chr9:137813138 [GRCh38]
Chr9:140707590 [GRCh37]
Chr9:9q34.3
benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_024757.5(EHMT1):c.3016G>A (p.Val1006Met) single nucleotide variant Inborn genetic diseases [RCV002313824]|Kleefstra syndrome 1 [RCV000550854]|not provided [RCV001689631]|not specified [RCV000082228] Chr9:137813154 [GRCh38]
Chr9:140707606 [GRCh37]
Chr9:9q34.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_024757.5(EHMT1):c.3180+10G>T single nucleotide variant Kleefstra syndrome 1 [RCV000357220]|not provided [RCV001561404]|not specified [RCV000082229] Chr9:137813540 [GRCh38]
Chr9:140707992 [GRCh37]
Chr9:9q34.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_024757.5(EHMT1):c.3375-15CT[2] microsatellite Kleefstra syndrome 1 [RCV001521374]|not provided [RCV001650932]|not specified [RCV000082230] Chr9:137817424..137817425 [GRCh38]
Chr9:140711876..140711877 [GRCh37]
Chr9:9q34.3
benign
NM_024757.5(EHMT1):c.3375-9A>C single nucleotide variant Kleefstra syndrome 1 [RCV000277601]|not provided [RCV001668209]|not specified [RCV000082231] Chr9:137817430 [GRCh38]
Chr9:140711882 [GRCh37]
Chr9:9q34.3
benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_024757.5(EHMT1):c.3401G>A (p.Arg1134Gln) single nucleotide variant Inborn genetic diseases [RCV002514442]|Kleefstra syndrome 1 [RCV000798416]|not provided [RCV000082232] Chr9:137817465 [GRCh38]
Chr9:140711917 [GRCh37]
Chr9:9q34.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024757.5(EHMT1):c.3541-13TC[3] microsatellite Kleefstra syndrome 1 [RCV001510480]|not provided [RCV001610382]|not specified [RCV000082233] Chr9:137834335..137834336 [GRCh38]
Chr9:140728787..140728788 [GRCh37]
Chr9:9q34.3
benign
NM_024757.5(EHMT1):c.354T>G (p.Ser118=) single nucleotide variant Inborn genetic diseases [RCV002313825]|Kleefstra syndrome 1 [RCV000543474]|not provided [RCV001668210]|not specified [RCV000082234] Chr9:137716894 [GRCh38]
Chr9:140611346 [GRCh37]
Chr9:9q34.3
benign|likely benign
NM_024757.5(EHMT1):c.3555C>T (p.Tyr1185=) single nucleotide variant Inborn genetic diseases [RCV002336239]|Kleefstra syndrome 1 [RCV001513696]|not provided [RCV000082235] Chr9:137834363 [GRCh38]
Chr9:140728815 [GRCh37]
Chr9:9q34.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024757.5(EHMT1):c.3735C>T (p.Arg1245=) single nucleotide variant Inborn genetic diseases [RCV002316271]|Kleefstra syndrome 1 [RCV000324253]|not provided [RCV001705781]|not specified [RCV000082236] Chr9:137834791 [GRCh38]
Chr9:140729243 [GRCh37]
Chr9:9q34.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_024757.5(EHMT1):c.3848A>C (p.Glu1283Ala) single nucleotide variant Inborn genetic diseases [RCV002362732]|Kleefstra syndrome 1 [RCV000395808]|not provided [RCV000082237] Chr9:137834904 [GRCh38]
Chr9:140729356 [GRCh37]
Chr9:9q34.3
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024757.5(EHMT1):c.432C>T (p.Ala144=) single nucleotide variant Inborn genetic diseases [RCV002326799]|Kleefstra syndrome 1 [RCV000284917]|not provided [RCV001705782]|not specified [RCV000082238] Chr9:137716972 [GRCh38]
Chr9:140611424 [GRCh37]
Chr9:9q34.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_024757.5(EHMT1):c.529G>C (p.Ala177Pro) single nucleotide variant Kleefstra syndrome 1 [RCV001046573]|not provided [RCV000082240] Chr9:137717069 [GRCh38]
Chr9:140611521 [GRCh37]
Chr9:9q34.3
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024757.5(EHMT1):c.565A>C (p.Arg189=) single nucleotide variant not provided [RCV000082241] Chr9:137717105 [GRCh38]
Chr9:140611557 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.566G>C (p.Arg189Thr) single nucleotide variant not provided [RCV000082242] Chr9:137717106 [GRCh38]
Chr9:140611558 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.575C>T (p.Pro192Leu) single nucleotide variant Kleefstra syndrome 1 [RCV000348835]|not provided [RCV000082243] Chr9:137717115 [GRCh38]
Chr9:140611567 [GRCh37]
Chr9:9q34.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024757.5(EHMT1):c.1162G>A (p.Ala388Thr) single nucleotide variant Inborn genetic diseases [RCV002312102]|Kleefstra syndrome 1 [RCV000324296]|not provided [RCV001596965]|not specified [RCV000116957] Chr9:137744082 [GRCh38]
Chr9:140638534 [GRCh37]
Chr9:9q34.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_024757.5(EHMT1):c.148G>A (p.Ala50Thr) single nucleotide variant Inborn genetic diseases [RCV002312103]|Kleefstra syndrome 1 [RCV000357318]|not provided [RCV001705829]|not specified [RCV000116958] Chr9:137716688 [GRCh38]
Chr9:140611140 [GRCh37]
Chr9:9q34.3
benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_024757.5(EHMT1):c.1865A>G (p.Asn622Ser) single nucleotide variant Inborn genetic diseases [RCV002316302]|Kleefstra syndrome 1 [RCV000547981]|not provided [RCV000116959] Chr9:137776691 [GRCh38]
Chr9:140671143 [GRCh37]
Chr9:9q34.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024757.5(EHMT1):c.2426C>T (p.Pro809Leu) single nucleotide variant Kleefstra syndrome 1 [RCV002528212]|not provided [RCV000116960] Chr9:137790891 [GRCh38]
Chr9:140685343 [GRCh37]
Chr9:9q34.3
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_024757.5(EHMT1):c.3087G>A (p.Val1029=) single nucleotide variant Inborn genetic diseases [RCV002312104]|Kleefstra syndrome 1 [RCV000335233]|not provided [RCV001668234]|not specified [RCV000116961] Chr9:137813437 [GRCh38]
Chr9:140707889 [GRCh37]
Chr9:9q34.3
benign|likely benign
NM_024757.5(EHMT1):c.309G>A (p.Ala103=) single nucleotide variant Inborn genetic diseases [RCV002321593]|Kleefstra syndrome 1 [RCV001089426]|not provided [RCV000116962] Chr9:137716849 [GRCh38]
Chr9:140611301 [GRCh37]
Chr9:9q34.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024757.5(EHMT1):c.316C>G (p.Gln106Glu) single nucleotide variant Inborn genetic diseases [RCV002313877]|Kleefstra syndrome 1 [RCV000362161]|not provided [RCV000429185]|not specified [RCV000116963] Chr9:137716856 [GRCh38]
Chr9:140611308 [GRCh37]
Chr9:9q34.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_024757.5(EHMT1):c.526C>T (p.Pro176Ser) single nucleotide variant Inborn genetic diseases [RCV002312105]|Kleefstra syndrome 1 [RCV000336184]|not provided [RCV000514021]|not specified [RCV000116964] Chr9:137717066 [GRCh38]
Chr9:140611518 [GRCh37]
Chr9:9q34.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_024757.5(EHMT1):c.2028dup (p.Pro677fs) duplication Kleefstra syndrome 1 [RCV000055960] Chr9:137777888..137777889 [GRCh38]
Chr9:140672340..140672341 [GRCh37]
Chr9:9q34.3
pathogenic|not provided
NM_024757.5(EHMT1):c.2877_2880del (p.Ser960fs) microsatellite Kleefstra syndrome 1 [RCV000055964]|not provided [RCV000483684] Chr9:137813008..137813011 [GRCh38]
Chr9:140707460..140707463 [GRCh37]
Chr9:9q34.3
pathogenic
NM_024757.5(EHMT1):c.242C>T (p.Pro81Leu) single nucleotide variant Kleefstra syndrome 1 [RCV001349273] Chr9:137716782 [GRCh38]
Chr9:140611234 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.611G>A (p.Arg204His) single nucleotide variant Kleefstra syndrome 1 [RCV002516557]|not provided [RCV000171430] Chr9:137717151 [GRCh38]
Chr9:140611603 [GRCh37]
Chr9:9q34.3
likely pathogenic|uncertain significance
NM_024757.5(EHMT1):c.2382+1697T>G single nucleotide variant not provided [RCV000171431] Chr9:137784094 [GRCh38]
Chr9:140678546 [GRCh37]
Chr9:9q34.3
likely pathogenic
NM_024757.5(EHMT1):c.3011G>A (p.Ser1004Asn) single nucleotide variant Inborn genetic diseases [RCV002317021]|Kleefstra syndrome 1 [RCV000341037]|not provided [RCV000514513]|not specified [RCV000176118] Chr9:137813149 [GRCh38]
Chr9:140707601 [GRCh37]
Chr9:9q34.3
pathogenic|benign|likely benign
NM_024757.5(EHMT1):c.581C>T (p.Pro194Leu) single nucleotide variant Inborn genetic diseases [RCV002317032]|Kleefstra syndrome 1 [RCV000552610]|not provided [RCV001651042]|not specified [RCV000177340] Chr9:137717121 [GRCh38]
Chr9:140611573 [GRCh37]
Chr9:9q34.3
benign|likely benign
NM_024757.5(EHMT1):c.737G>A (p.Arg246Gln) single nucleotide variant Inborn genetic diseases [RCV002314643]|Kleefstra syndrome 1 [RCV000398505]|not provided [RCV001706141]|not specified [RCV000178366] Chr9:137728443 [GRCh38]
Chr9:140622895 [GRCh37]
Chr9:9q34.3
benign|likely benign
NM_024757.5(EHMT1):c.3524_3530del (p.Phe1175fs) deletion not provided [RCV001291547] Chr9:137818119..137818125 [GRCh38]
Chr9:140712571..140712577 [GRCh37]
Chr9:9q34.3
pathogenic
NM_024757.5(EHMT1):c.1679A>G (p.Tyr560Cys) single nucleotide variant Kleefstra syndrome 1 [RCV001331347] Chr9:137775140 [GRCh38]
Chr9:140669592 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.110G>A (p.Gly37Asp) single nucleotide variant Kleefstra syndrome 1 [RCV001333220] Chr9:137716650 [GRCh38]
Chr9:140611102 [GRCh37]
Chr9:9q34.3
conflicting interpretations of pathogenicity|uncertain significance
NM_024757.5(EHMT1):c.2335G>A (p.Ala779Thr) single nucleotide variant Kleefstra syndrome 1 [RCV001331348]|not provided [RCV003322880] Chr9:137782350 [GRCh38]
Chr9:140676802 [GRCh37]
Chr9:9q34.3
uncertain significance
GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445) copy number gain See cases [RCV000133791] Chr9:204193..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
NM_024757.5(EHMT1):c.2039C>T (p.Ser680Leu) single nucleotide variant Inborn genetic diseases [RCV002517679]|Kleefstra syndrome 1 [RCV001202984]|not provided [RCV000174602] Chr9:137777902 [GRCh38]
Chr9:140672354 [GRCh37]
Chr9:9q34.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh38/hg38 9q34.11-34.3(chr9:130513207-138124532)x3 copy number gain See cases [RCV000133778] Chr9:130513207..138124532 [GRCh38]
Chr9:133388594..141018984 [GRCh37]
Chr9:132378415..140138805 [NCBI36]
Chr9:9q34.11-34.3
pathogenic
GRCh38/hg38 9q34.11-34.3(chr9:129068560-138179445)x3 copy number gain See cases [RCV000134916] Chr9:129068560..138179445 [GRCh38]
Chr9:131830839..141073897 [GRCh37]
Chr9:130870660..140193718 [NCBI36]
Chr9:9q34.11-34.3
pathogenic
GRCh38/hg38 9q33.2-34.3(chr9:121073102-138179445)x3 copy number gain See cases [RCV000134920] Chr9:121073102..138179445 [GRCh38]
Chr9:123835380..141073897 [GRCh37]
Chr9:122875201..140193718 [NCBI36]
Chr9:9q33.2-34.3
pathogenic
GRCh38/hg38 9q34.3(chr9:137391682-138114463)x3 copy number gain See cases [RCV000136863] Chr9:137391682..138114463 [GRCh38]
Chr9:140286134..141008915 [GRCh37]
Chr9:139405955..140128736 [NCBI36]
Chr9:9q34.3
pathogenic
GRCh38/hg38 9q34.3(chr9:137830545-137836015)x1 copy number loss See cases [RCV000137133] Chr9:137830545..137836015 [GRCh38]
Chr9:140724997..140730467 [GRCh37]
Chr9:139844818..139850288 [NCBI36]
Chr9:9q34.3
uncertain significance
GRCh38/hg38 9q34.13-34.3(chr9:132986903-138114463)x3 copy number gain See cases [RCV000136790] Chr9:132986903..138114463 [GRCh38]
Chr9:135862290..141008915 [GRCh37]
Chr9:134852111..140128736 [NCBI36]
Chr9:9q34.13-34.3
pathogenic
GRCh38/hg38 9q34.3(chr9:137656456-137862670)x3 copy number gain See cases [RCV000137146] Chr9:137656456..137862670 [GRCh38]
Chr9:140550908..140757122 [GRCh37]
Chr9:139670729..139876943 [NCBI36]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.2595C>T (p.Asp865=) single nucleotide variant Kleefstra syndrome 1 [RCV001087047]|not provided [RCV000723987]|not specified [RCV000175233] Chr9:137798902 [GRCh38]
Chr9:140693354 [GRCh37]
Chr9:9q34.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh38/hg38 9q34.2-34.3(chr9:133504071-138159073)x3 copy number gain See cases [RCV000137825] Chr9:133504071..138159073 [GRCh38]
Chr9:136324358..141053525 [GRCh37]
Chr9:135314179..140173346 [NCBI36]
Chr9:9q34.2-34.3
pathogenic
GRCh38/hg38 9q34.3(chr9:137513120-138159073)x1 copy number loss See cases [RCV000137748] Chr9:137513120..138159073 [GRCh38]
Chr9:140407572..141053525 [GRCh37]
Chr9:139527393..140173346 [NCBI36]
Chr9:9q34.3
uncertain significance
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3 copy number gain See cases [RCV000138783] Chr9:193412..138124524 [GRCh38]
Chr9:204090..141018976 [GRCh37]
Chr9:194090..140138797 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9q34.3(chr9:137830545-138124532)x3 copy number gain See cases [RCV000138243] Chr9:137830545..138124532 [GRCh38]
Chr9:140724997..141018984 [GRCh37]
Chr9:139844818..140138805 [NCBI36]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.2691T>G (p.Ser897=) single nucleotide variant not provided [RCV000175366] Chr9:137800963 [GRCh38]
Chr9:140695415 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.2695A>G (p.Ile899Val) single nucleotide variant Inborn genetic diseases [RCV002314606]|Kleefstra syndrome 1 [RCV000334229]|not provided [RCV000175367] Chr9:137800967 [GRCh38]
Chr9:140695419 [GRCh37]
Chr9:9q34.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000139207] Chr9:193412..138159073 [GRCh38]
Chr9:68420641..141053525 [GRCh37]
Chr9:67910461..140173346 [NCBI36]
Chr9:9p11.2-q34.3
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000138962] Chr9:193412..138159073 [GRCh38]
Chr9:204104..141053525 [GRCh37]
Chr9:194104..140173346 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic|conflicting data from submitters
GRCh38/hg38 9q34.3(chr9:137764592-137790980)x3 copy number gain See cases [RCV000139934] Chr9:137764592..137790980 [GRCh38]
Chr9:140659044..140685432 [GRCh37]
Chr9:139778865..139805253 [NCBI36]
Chr9:9q34.3
uncertain significance
GRCh38/hg38 9q34.3(chr9:137372891-137757091)x3 copy number gain See cases [RCV000140110] Chr9:137372891..137757091 [GRCh38]
Chr9:140267343..140651543 [GRCh37]
Chr9:139387164..139771364 [NCBI36]
Chr9:9q34.3
uncertain significance
GRCh38/hg38 9q34.3(chr9:137810632-138104468)x3 copy number gain See cases [RCV000140439] Chr9:137810632..138104468 [GRCh38]
Chr9:140705084..140998920 [GRCh37]
Chr9:139824905..140118741 [NCBI36]
Chr9:9q34.3
likely benign|uncertain significance
GRCh38/hg38 9q34.2-34.3(chr9:133996227-138124524)x3 copy number gain See cases [RCV000139807] Chr9:133996227..138124524 [GRCh38]
Chr9:136861349..141018976 [GRCh37]
Chr9:135851170..140138797 [NCBI36]
Chr9:9q34.2-34.3
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3 copy number gain See cases [RCV000141876] Chr9:203861..138125937 [GRCh38]
Chr9:203861..141020389 [GRCh37]
Chr9:193861..140140210 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9q34.2-34.3(chr9:133918071-138159073)x3 copy number gain See cases [RCV000142955] Chr9:133918071..138159073 [GRCh38]
Chr9:136783193..141053525 [GRCh37]
Chr9:135773014..140173346 [NCBI36]
Chr9:9q34.2-34.3
pathogenic
GRCh38/hg38 9q34.3(chr9:136877772-138124524)x1 copy number loss See cases [RCV000142978] Chr9:136877772..138124524 [GRCh38]
Chr9:139772224..141018976 [GRCh37]
Chr9:138892045..140138797 [NCBI36]
Chr9:9q34.3
pathogenic
GRCh38/hg38 9q34.3(chr9:137763015-137902180)x3 copy number gain See cases [RCV000142761] Chr9:137763015..137902180 [GRCh38]
Chr9:140657467..140796632 [GRCh37]
Chr9:139777288..139916453 [NCBI36]
Chr9:9q34.3
uncertain significance
GRCh38/hg38 9q34.13-34.3(chr9:132386553-138059695)x3 copy number gain See cases [RCV000142636] Chr9:132386553..138059695 [GRCh38]
Chr9:135261940..140954147 [GRCh37]
Chr9:134251761..140073968 [NCBI36]
Chr9:9q34.13-34.3
pathogenic
GRCh38/hg38 9q34.3(chr9:135704780-138125937)x4 copy number gain See cases [RCV000143394] Chr9:135704780..138125937 [GRCh38]
Chr9:138596626..141020389 [GRCh37]
Chr9:137736447..140140210 [NCBI36]
Chr9:9q34.3
likely pathogenic
GRCh38/hg38 9q34.3(chr9:137345965-138159083)x1 copy number loss See cases [RCV000143327] Chr9:137345965..138159083 [GRCh38]
Chr9:140240417..141053535 [GRCh37]
Chr9:139360238..140173356 [NCBI36]
Chr9:9q34.3
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3 copy number gain See cases [RCV000143476] Chr9:203862..138125937 [GRCh38]
Chr9:203862..141020389 [GRCh37]
Chr9:193862..140140210 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9q34.3(chr9:137757333-137790980)x4 copy number gain See cases [RCV000143611] Chr9:137757333..137790980 [GRCh38]
Chr9:140651785..140685432 [GRCh37]
Chr9:139771606..139805253 [NCBI36]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.480C>T (p.Gly160=) single nucleotide variant Inborn genetic diseases [RCV002316966]|Kleefstra syndrome 1 [RCV000278830]|not provided [RCV001706019]|not specified [RCV000153192] Chr9:137717020 [GRCh38]
Chr9:140611472 [GRCh37]
Chr9:9q34.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_024757.5(EHMT1):c.2040G>A (p.Ser680=) single nucleotide variant Inborn genetic diseases [RCV002415647]|Kleefstra syndrome 1 [RCV000528324]|not provided [RCV001618308]|not specified [RCV000153193] Chr9:137777903 [GRCh38]
Chr9:140672355 [GRCh37]
Chr9:9q34.3
benign|likely benign
GRCh38/hg38 9q34.3(chr9:136323974-138014606)x1 copy number loss See cases [RCV000148284] Chr9:136323974..138014606 [GRCh38]
Chr9:139218428..140909058 [GRCh37]
Chr9:138338249..140028879 [NCBI36]
Chr9:9q34.3
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000148113] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
NM_024757.5(EHMT1):c.43C>T (p.Pro15Ser) single nucleotide variant not provided [RCV000153191] Chr9:137710988 [GRCh38]
Chr9:140605440 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.3015C>T (p.Pro1005=) single nucleotide variant Kleefstra syndrome 1 [RCV001078931]|not provided [RCV000176117] Chr9:137813153 [GRCh38]
Chr9:140707605 [GRCh37]
Chr9:9q34.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024757.5(EHMT1):c.3081C>T (p.Asn1027=) single nucleotide variant Kleefstra syndrome 1 [RCV001087397]|not provided [RCV000176228] Chr9:137813431 [GRCh38]
Chr9:140707883 [GRCh37]
Chr9:9q34.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024757.5(EHMT1):c.70G>A (p.Glu24Lys) single nucleotide variant Inborn genetic diseases [RCV002362893]|Kleefstra syndrome 1 [RCV000702204]|not provided [RCV000723953]|not specified [RCV000175948] Chr9:137711015 [GRCh38]
Chr9:140605467 [GRCh37]
Chr9:9q34.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024757.5(EHMT1):c.35G>C (p.Arg12Thr) single nucleotide variant Kleefstra syndrome 1 [RCV000695929]|not provided [RCV000724554]|not specified [RCV000193096] Chr9:137710980 [GRCh38]
Chr9:140605432 [GRCh37]
Chr9:9q34.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024757.5(EHMT1):c.576G>A (p.Pro192=) single nucleotide variant Inborn genetic diseases [RCV002314813]|Kleefstra syndrome 1 [RCV000399265]|not provided [RCV001706167]|not specified [RCV000192432] Chr9:137717116 [GRCh38]
Chr9:140611568 [GRCh37]
Chr9:9q34.3
benign|likely benign|uncertain significance
NM_024757.5(EHMT1):c.3028G>A (p.Val1010Met) single nucleotide variant Inborn genetic diseases [RCV002314811]|Kleefstra syndrome 1 [RCV000638418]|not provided [RCV001682909]|not specified [RCV000192837] Chr9:137813166 [GRCh38]
Chr9:140707618 [GRCh37]
Chr9:9q34.3
benign|likely benign
NM_024757.5(EHMT1):c.2867+5G>A single nucleotide variant Kleefstra syndrome 1 [RCV003144184]|not provided [RCV000255220] Chr9:137811620 [GRCh38]
Chr9:140706072 [GRCh37]
Chr9:9q34.3
pathogenic|uncertain significance
NM_024757.5(EHMT1):c.797A>G (p.Tyr266Cys) single nucleotide variant Kleefstra syndrome 1 [RCV001219536]|not specified [RCV000193271] Chr9:137728503 [GRCh38]
Chr9:140622955 [GRCh37]
Chr9:9q34.3
benign|likely benign|uncertain significance
NM_024757.5(EHMT1):c.159G>T (p.Glu53Asp) single nucleotide variant Kleefstra syndrome 1 [RCV000367897]|not provided [RCV001564441]|not specified [RCV000193456] Chr9:137716699 [GRCh38]
Chr9:140611151 [GRCh37]
Chr9:9q34.3
likely benign|uncertain significance
NM_024757.5(EHMT1):c.2996C>T (p.Ala999Val) single nucleotide variant Kleefstra syndrome 1 [RCV001358891]|not specified [RCV000193999] Chr9:137813134 [GRCh38]
Chr9:140707586 [GRCh37]
Chr9:9q34.3
likely benign|uncertain significance
NM_024757.5(EHMT1):c.3123C>A (p.Val1041=) single nucleotide variant not specified [RCV000194073] Chr9:137813473 [GRCh38]
Chr9:140707925 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.905A>G (p.Lys302Arg) single nucleotide variant Inborn genetic diseases [RCV002314814]|Kleefstra syndrome 1 [RCV000307829]|not provided [RCV001575368]|not specified [RCV000194465] Chr9:137743452 [GRCh38]
Chr9:140637904 [GRCh37]
Chr9:9q34.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024757.5(EHMT1):c.2712+9G>A single nucleotide variant Kleefstra syndrome 1 [RCV000940080]|not specified [RCV000194570] Chr9:137800993 [GRCh38]
Chr9:140695445 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.1950C>T (p.Thr650=) single nucleotide variant Inborn genetic diseases [RCV002317681]|Kleefstra syndrome 1 [RCV000304741]|not provided [RCV001706166]|not specified [RCV000194680] Chr9:137776776 [GRCh38]
Chr9:140671228 [GRCh37]
Chr9:9q34.3
benign|likely benign|uncertain significance
NM_024757.5(EHMT1):c.3198C>T (p.Asp1066=) single nucleotide variant Inborn genetic diseases [RCV002314812]|Kleefstra syndrome 1 [RCV000895300]|not provided [RCV001589067]|not specified [RCV000195269] Chr9:137814448 [GRCh38]
Chr9:140708900 [GRCh37]
Chr9:9q34.3
pathogenic|likely benign|uncertain significance
NM_024757.5(EHMT1):c.1130C>T (p.Thr377Ile) single nucleotide variant not provided [RCV000179531] Chr9:137744050 [GRCh38]
Chr9:140638502 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.1159C>T (p.Arg387Cys) single nucleotide variant Kleefstra syndrome 1 [RCV001035612]|not provided [RCV000179532] Chr9:137744079 [GRCh38]
Chr9:140638531 [GRCh37]
Chr9:9q34.3
benign|uncertain significance
NM_024757.5(EHMT1):c.1008C>A (p.Ser336Arg) single nucleotide variant Inborn genetic diseases [RCV002453639]|Kleefstra syndrome 1 [RCV001062404]|not provided [RCV000179533] Chr9:137743928 [GRCh38]
Chr9:140638380 [GRCh37]
Chr9:9q34.3
benign|likely benign|uncertain significance
NM_024757.5(EHMT1):c.1425C>T (p.Asp475=) single nucleotide variant Kleefstra syndrome 1 [RCV002054155]|not provided [RCV000180688] Chr9:137757935 [GRCh38]
Chr9:140652387 [GRCh37]
Chr9:9q34.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024757.5(EHMT1):c.91C>T (p.Pro31Ser) single nucleotide variant Kleefstra syndrome 1 [RCV002516737]|not provided [RCV000177337] Chr9:137716631 [GRCh38]
Chr9:140611083 [GRCh37]
Chr9:9q34.3
conflicting interpretations of pathogenicity|uncertain significance
NM_024757.5(EHMT1):c.211A>G (p.Lys71Glu) single nucleotide variant Inborn genetic diseases [RCV002317031]|not provided [RCV000177338] Chr9:137716751 [GRCh38]
Chr9:140611203 [GRCh37]
Chr9:9q34.3
likely benign|uncertain significance
NM_024757.5(EHMT1):c.589G>A (p.Asp197Asn) single nucleotide variant Inborn genetic diseases [RCV002354457]|Kleefstra syndrome 1 [RCV001484691]|not provided [RCV000177339] Chr9:137717129 [GRCh38]
Chr9:140611581 [GRCh37]
Chr9:9q34.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024757.5(EHMT1):c.298_299delinsAT (p.Asp100Ile) indel Kleefstra syndrome 1 [RCV001322454]|not provided [RCV000177341] Chr9:137716838..137716839 [GRCh38]
Chr9:140611290..140611291 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.183C>T (p.Ser61=) single nucleotide variant Kleefstra syndrome 1 [RCV000277991]|not provided [RCV000723982]|not specified [RCV000177342] Chr9:137716723 [GRCh38]
Chr9:140611175 [GRCh37]
Chr9:9q34.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024757.5(EHMT1):c.298G>A (p.Asp100Asn) single nucleotide variant Inborn genetic diseases [RCV002433774]|Kleefstra syndrome 1 [RCV000701234]|not provided [RCV000177343] Chr9:137716838 [GRCh38]
Chr9:140611290 [GRCh37]
Chr9:9q34.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024757.5(EHMT1):c.299A>T (p.Asp100Val) single nucleotide variant not provided [RCV000177344] Chr9:137716839 [GRCh38]
Chr9:140611291 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.86-5G>A single nucleotide variant Kleefstra syndrome 1 [RCV001337915]|not provided [RCV000177345] Chr9:137716621 [GRCh38]
Chr9:140611073 [GRCh37]
Chr9:9q34.3
conflicting interpretations of pathogenicity|uncertain significance
NM_024757.5(EHMT1):c.391del (p.Ala131fs) deletion Kleefstra syndrome 1 [RCV000191083] Chr9:137716930 [GRCh38]
Chr9:140611382 [GRCh37]
Chr9:9q34.3
pathogenic
NM_024757.5(EHMT1):c.981+7G>A single nucleotide variant not specified [RCV000192310] Chr9:137743535 [GRCh38]
Chr9:140637987 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.2839G>A (p.Ala947Thr) single nucleotide variant Kleefstra syndrome 1 [RCV001045045]|not specified [RCV000192769] Chr9:137811587 [GRCh38]
Chr9:140706039 [GRCh37]
Chr9:9q34.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024757.5(EHMT1):c.2011A>G (p.Thr671Ala) single nucleotide variant not specified [RCV000192894] Chr9:137776837 [GRCh38]
Chr9:140671289 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.2642C>T (p.Thr881Ile) single nucleotide variant Kleefstra syndrome 1 [RCV000764826]|not specified [RCV000193717] Chr9:137800914 [GRCh38]
Chr9:140695366 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.1094A>G (p.Glu365Gly) single nucleotide variant Kleefstra syndrome 1 [RCV001362501]|not specified [RCV000194417] Chr9:137744014 [GRCh38]
Chr9:140638466 [GRCh37]
Chr9:9q34.3
likely benign|uncertain significance
NM_024757.5(EHMT1):c.3864C>T (p.Asp1288=) single nucleotide variant not specified [RCV000195163] Chr9:137834920 [GRCh38]
Chr9:140729372 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.3310G>A (p.Glu1104Lys) single nucleotide variant Kleefstra syndrome 1 [RCV000258918] Chr9:137815998 [GRCh38]
Chr9:140710450 [GRCh37]
Chr9:9q34.3
likely pathogenic
NM_024757.5(EHMT1):c.390G>T (p.Pro130=) single nucleotide variant Kleefstra syndrome 1 [RCV000524792]|not provided [RCV001613348]|not specified [RCV001821533] Chr9:137716930 [GRCh38]
Chr9:140611382 [GRCh37]
Chr9:9q34.3
benign|likely benign
NM_024757.5(EHMT1):c.128_129delinsGT (p.Ala43Gly) indel Kleefstra syndrome 1 [RCV000544289] Chr9:137716668..137716669 [GRCh38]
Chr9:140611120..140611121 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.1307C>T (p.Pro436Leu) single nucleotide variant Inborn genetic diseases [RCV000210678]|Kleefstra syndrome 1 [RCV001853375] Chr9:137754229 [GRCh38]
Chr9:140648681 [GRCh37]
Chr9:9q34.3
likely pathogenic|uncertain significance
NM_024757.5(EHMT1):c.3567G>A (p.Ala1189=) single nucleotide variant Kleefstra syndrome 1 [RCV001493892] Chr9:137834375 [GRCh38]
Chr9:140728827 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.437C>T (p.Ser146Leu) single nucleotide variant Kleefstra syndrome 1 [RCV000824396]|not specified [RCV000238613] Chr9:137716977 [GRCh38]
Chr9:140611429 [GRCh37]
Chr9:9q34.3
benign|uncertain significance
GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3 copy number gain See cases [RCV000240081] Chr9:163131..141122114 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
NM_024757.5(EHMT1):c.673C>T (p.Arg225Ter) single nucleotide variant Kleefstra syndrome 1 [RCV000239430]|not provided [RCV000478780] Chr9:137728379 [GRCh38]
Chr9:140622831 [GRCh37]
Chr9:9q34.3
pathogenic|likely pathogenic
GRCh37/hg19 9q34.3(chr9:140712794-141018984)x3 copy number gain See cases [RCV000240012] Chr9:140712794..141018984 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.3742G>C (p.Asp1248His) single nucleotide variant Kleefstra syndrome 1 [RCV001493762] Chr9:137834798 [GRCh38]
Chr9:140729250 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.1951G>A (p.Val651Met) single nucleotide variant Kleefstra syndrome 1 [RCV001034524]|not provided [RCV000487651] Chr9:137776777 [GRCh38]
Chr9:140671229 [GRCh37]
Chr9:9q34.3
likely benign|uncertain significance
GRCh37/hg19 9q34.3(chr9:140550908-140757122)x3 copy number gain See cases [RCV000240393] Chr9:140550908..140757122 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.3413G>A (p.Trp1138Ter) single nucleotide variant Kleefstra syndrome 1 [RCV000241547] Chr9:137817477 [GRCh38]
Chr9:140711929 [GRCh37]
Chr9:9q34.3
pathogenic
NM_024757.5(EHMT1):c.3569G>A (p.Arg1190Gln) single nucleotide variant Kleefstra syndrome 1 [RCV001855095]|not provided [RCV000271024] Chr9:137834377 [GRCh38]
Chr9:140728829 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.271A>T (p.Ile91Leu) single nucleotide variant Inborn genetic diseases [RCV002429220]|Kleefstra syndrome 1 [RCV001085933]|not provided [RCV000725447]|not specified [RCV000374563] Chr9:137716811 [GRCh38]
Chr9:140611263 [GRCh37]
Chr9:9q34.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024757.5(EHMT1):c.1947G>A (p.Ser649=) single nucleotide variant Inborn genetic diseases [RCV002314021]|Kleefstra syndrome 1 [RCV000401622]|not provided [RCV000271939] Chr9:137776773 [GRCh38]
Chr9:140671225 [GRCh37]
Chr9:9q34.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024757.5(EHMT1):c.2142A>G (p.Gly714=) single nucleotide variant Kleefstra syndrome 1 [RCV000259972] Chr9:137778005 [GRCh38]
Chr9:140672457 [GRCh37]
Chr9:9q34.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024757.5(EHMT1):c.188C>T (p.Ala63Val) single nucleotide variant Kleefstra syndrome 1 [RCV000541258]|not provided [RCV000342270] Chr9:137716728 [GRCh38]
Chr9:140611180 [GRCh37]
Chr9:9q34.3
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024757.5(EHMT1):c.1249-11T>C single nucleotide variant Kleefstra syndrome 1 [RCV002073386]|not provided [RCV001725414] Chr9:137754160 [GRCh38]
Chr9:140648612 [GRCh37]
Chr9:9q34.3
benign|likely benign|uncertain significance
NM_024757.5(EHMT1):c.324C>T (p.His108=) single nucleotide variant Inborn genetic diseases [RCV002323571]|Kleefstra syndrome 1 [RCV000272058] Chr9:137716864 [GRCh38]
Chr9:140611316 [GRCh37]
Chr9:9q34.3
benign|likely benign
NM_024757.5(EHMT1):c.551C>T (p.Ala184Val) single nucleotide variant Kleefstra syndrome 1 [RCV000282432] Chr9:137717091 [GRCh38]
Chr9:140611543 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.32C>T (p.Ala11Val) single nucleotide variant Inborn genetic diseases [RCV002519281]|Kleefstra syndrome 1 [RCV000638402]|not provided [RCV000275935] Chr9:137710977 [GRCh38]
Chr9:140605429 [GRCh37]
Chr9:9q34.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024757.5(EHMT1):c.824-5_824-3del deletion Inborn genetic diseases [RCV002313999]|not specified [RCV000343338] Chr9:137743353..137743355 [GRCh38]
Chr9:140637805..140637807 [GRCh37]
Chr9:9q34.3
benign|likely benign
NM_024757.5(EHMT1):c.2408C>G (p.Ser803Ter) single nucleotide variant not provided [RCV000312150] Chr9:137790873 [GRCh38]
Chr9:140685325 [GRCh37]
Chr9:9q34.3
pathogenic
NM_024757.5(EHMT1):c.1135A>G (p.Lys379Glu) single nucleotide variant Intellectual disability [RCV001252236]|Kleefstra syndrome 1 [RCV001055403]|not provided [RCV000725838]|not specified [RCV000346698] Chr9:137744055 [GRCh38]
Chr9:140638507 [GRCh37]
Chr9:9q34.3
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024757.5(EHMT1):c.3094G>A (p.Glu1032Lys) single nucleotide variant Kleefstra syndrome 1 [RCV001238655]|not provided [RCV000346902] Chr9:137813444 [GRCh38]
Chr9:140707896 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.3214A>G (p.Asn1072Asp) single nucleotide variant Kleefstra syndrome 1 [RCV000273927] Chr9:137814464 [GRCh38]
Chr9:140708916 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.2704C>T (p.Arg902Ter) single nucleotide variant Kleefstra syndrome 1 [RCV001808728]|not provided [RCV000336966] Chr9:137800976 [GRCh38]
Chr9:140695428 [GRCh37]
Chr9:9q34.3
pathogenic
NM_024757.5(EHMT1):c.3687C>T (p.Thr1229=) single nucleotide variant Inborn genetic diseases [RCV002450803]|Kleefstra syndrome 1 [RCV000543281]|not provided [RCV001553104]|not specified [RCV000316105] Chr9:137834495 [GRCh38]
Chr9:140728947 [GRCh37]
Chr9:9q34.3
benign|likely benign
NM_024757.5(EHMT1):c.*971dup duplication Kleefstra syndrome 1 [RCV000264557] Chr9:137835916..137835917 [GRCh38]
Chr9:140730368..140730369 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.2664C>T (p.Leu888=) single nucleotide variant Kleefstra syndrome 1 [RCV001489325] Chr9:137800936 [GRCh38]
Chr9:140695388 [GRCh37]
Chr9:9q34.3
likely benign|uncertain significance
NM_024757.5(EHMT1):c.1160G>A (p.Arg387His) single nucleotide variant EHMT1-related condition [RCV003422373]|Inborn genetic diseases [RCV002524595]|Kleefstra syndrome 1 [RCV000266814]|not provided [RCV001568167] Chr9:137744080 [GRCh38]
Chr9:140638532 [GRCh37]
Chr9:9q34.3
benign|likely benign|uncertain significance
NM_024757.5(EHMT1):c.3342delinsAAG (p.Asn1114fs) indel not provided [RCV000390060] Chr9:137816030 [GRCh38]
Chr9:140710482 [GRCh37]
Chr9:9q34.3
pathogenic
NM_024757.5(EHMT1):c.2431_2435delinsTGGG (p.Met811fs) indel not provided [RCV000393943] Chr9:137790896..137790900 [GRCh38]
Chr9:140685348..140685352 [GRCh37]
Chr9:9q34.3
pathogenic
NM_024757.5(EHMT1):c.2997C>G (p.Ala999=) single nucleotide variant not provided [RCV000329176] Chr9:137813135 [GRCh38]
Chr9:140707587 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.388C>G (p.Pro130Ala) single nucleotide variant not provided [RCV000364872] Chr9:137716928 [GRCh38]
Chr9:140611380 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.3803C>G (p.Ala1268Gly) single nucleotide variant Kleefstra syndrome 1 [RCV000279239] Chr9:137834859 [GRCh38]
Chr9:140729311 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.*1025T>G single nucleotide variant Kleefstra syndrome 1 [RCV000268290] Chr9:137835978 [GRCh38]
Chr9:140730430 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.2222del (p.Gln741fs) deletion not provided [RCV000265644] Chr9:137779664 [GRCh38]
Chr9:140674116 [GRCh37]
Chr9:9q34.3
pathogenic
NM_024757.5(EHMT1):c.2970G>T (p.Gln990His) single nucleotide variant Inborn genetic diseases [RCV002436106]|Kleefstra syndrome 1 [RCV000537426]|not provided [RCV001660546]|not specified [RCV000369488] Chr9:137813108 [GRCh38]
Chr9:140707560 [GRCh37]
Chr9:9q34.3
benign|likely benign
NM_024757.5(EHMT1):c.3072_3073del (p.Val1026fs) deletion Kleefstra syndrome 1 [RCV001764467]|not provided [RCV000489264] Chr9:137813422..137813423 [GRCh38]
Chr9:140707874..140707875 [GRCh37]
Chr9:9q34.3
pathogenic
NM_024757.5(EHMT1):c.2950C>T (p.Gln984Ter) single nucleotide variant not provided [RCV000489307] Chr9:137813088 [GRCh38]
Chr9:140707540 [GRCh37]
Chr9:9q34.3
pathogenic
NM_024757.5(EHMT1):c.827G>A (p.Cys276Tyr) single nucleotide variant Kleefstra syndrome 1 [RCV001367967] Chr9:137743374 [GRCh38]
Chr9:140637826 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.302C>G (p.Ser101Ter) single nucleotide variant not provided [RCV000489688] Chr9:137716842 [GRCh38]
Chr9:140611294 [GRCh37]
Chr9:9q34.3
pathogenic
NM_024757.5(EHMT1):c.3461+189C>T single nucleotide variant not provided [RCV001567413] Chr9:137817714 [GRCh38]
Chr9:140712166 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.3239T>C (p.Met1080Thr) single nucleotide variant Kleefstra syndrome 1 [RCV003314115] Chr9:137814489 [GRCh38]
Chr9:140708941 [GRCh37]
Chr9:9q34.3
likely pathogenic
NC_000009.12:g.137729445_137745564dup duplication Kleefstra syndrome 1 [RCV001269480] Chr9:137729444..137745563 [GRCh38]
Chr9:9q34.3
pathogenic
NM_024757.5(EHMT1):c.*226G>A single nucleotide variant Kleefstra syndrome 1 [RCV000314722] Chr9:137835179 [GRCh38]
Chr9:140729631 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.363C>T (p.Gly121=) single nucleotide variant Inborn genetic diseases [RCV002348121]|Kleefstra syndrome 1 [RCV000329408]|not provided [RCV001706611] Chr9:137716903 [GRCh38]
Chr9:140611355 [GRCh37]
Chr9:9q34.3
benign|likely benign
NM_024757.5(EHMT1):c.2127C>T (p.Pro709=) single nucleotide variant Kleefstra syndrome 1 [RCV000361676] Chr9:137777990 [GRCh38]
Chr9:140672442 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.*551T>G single nucleotide variant Kleefstra syndrome 1 [RCV000362505] Chr9:137835504 [GRCh38]
Chr9:140729956 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.1513G>A (p.Gly505Ser) single nucleotide variant Kleefstra syndrome 1 [RCV002124968] Chr9:137762686 [GRCh38]
Chr9:140657138 [GRCh37]
Chr9:9q34.3
benign|uncertain significance
NM_024757.5(EHMT1):c.3107G>T (p.Ser1036Ile) single nucleotide variant Kleefstra syndrome 1 [RCV001509857] Chr9:137813457 [GRCh38]
Chr9:140707909 [GRCh37]
Chr9:9q34.3
benign|uncertain significance
NM_024757.5(EHMT1):c.2192+11A>T single nucleotide variant Kleefstra syndrome 1 [RCV000330562] Chr9:137778066 [GRCh38]
Chr9:140672518 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.2712+13C>T single nucleotide variant Kleefstra syndrome 1 [RCV000381799] Chr9:137800997 [GRCh38]
Chr9:140695449 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.2994G>C (p.Ser998=) single nucleotide variant Kleefstra syndrome 1 [RCV000549920] Chr9:137813132 [GRCh38]
Chr9:140707584 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.1360G>A (p.Gly454Ser) single nucleotide variant Kleefstra syndrome 1 [RCV000292524] Chr9:137754282 [GRCh38]
Chr9:140648734 [GRCh37]
Chr9:9q34.3
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024757.5(EHMT1):c.1349_1352del (p.Lys450fs) microsatellite not provided [RCV000292549] Chr9:137754267..137754270 [GRCh38]
Chr9:140648719..140648722 [GRCh37]
Chr9:9q34.3
pathogenic
NM_024757.5(EHMT1):c.3894A>G (p.Leu1298=) single nucleotide variant Kleefstra syndrome 1 [RCV000292596]|not provided [RCV000659140] Chr9:137834950 [GRCh38]
Chr9:140729402 [GRCh37]
Chr9:9q34.3
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024757.5(EHMT1):c.2882G>A (p.Arg961Gln) single nucleotide variant Kleefstra syndrome 1 [RCV003091869] Chr9:137813020 [GRCh38]
Chr9:140707472 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.*663G>A single nucleotide variant Kleefstra syndrome 1 [RCV000402206] Chr9:137835616 [GRCh38]
Chr9:140730068 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.3462-14C>T single nucleotide variant Kleefstra syndrome 1 [RCV002117072] Chr9:137818046 [GRCh38]
Chr9:140712498 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.*870T>G single nucleotide variant Kleefstra syndrome 1 [RCV000366375] Chr9:137835823 [GRCh38]
Chr9:140730275 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.2922G>A (p.Thr974=) single nucleotide variant Inborn genetic diseases [RCV002436224]|Kleefstra syndrome 1 [RCV000385184]|not provided [RCV001706614] Chr9:137813060 [GRCh38]
Chr9:140707512 [GRCh37]
Chr9:9q34.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024757.5(EHMT1):c.2181C>T (p.Leu727=) single nucleotide variant Inborn genetic diseases [RCV002424409]|Kleefstra syndrome 1 [RCV000638415] Chr9:137778044 [GRCh38]
Chr9:140672496 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.3059G>A (p.Arg1020His) single nucleotide variant Kleefstra syndrome 1 [RCV000638425]|not provided [RCV001662687] Chr9:137813409 [GRCh38]
Chr9:140707861 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.21+10G>C single nucleotide variant Kleefstra syndrome 1 [RCV000638412] Chr9:137619059 [GRCh38]
Chr9:140513511 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.3183C>T (p.Tyr1061=) single nucleotide variant Kleefstra syndrome 1 [RCV000638411] Chr9:137814433 [GRCh38]
Chr9:140708885 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.3036G>C (p.Arg1012Ser) single nucleotide variant Kleefstra syndrome 1 [RCV000306088] Chr9:137813386 [GRCh38]
Chr9:140707838 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.1249-9G>T single nucleotide variant Kleefstra syndrome 1 [RCV000318392]|not provided [RCV001706613] Chr9:137754162 [GRCh38]
Chr9:140648614 [GRCh37]
Chr9:9q34.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_024757.5(EHMT1):c.*17G>A single nucleotide variant Kleefstra syndrome 1 [RCV000349913] Chr9:137834970 [GRCh38]
Chr9:140729422 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.1148C>T (p.Ser383Leu) single nucleotide variant Kleefstra syndrome 1 [RCV000320747] Chr9:137744068 [GRCh38]
Chr9:140638520 [GRCh37]
Chr9:9q34.3
conflicting interpretations of pathogenicity|uncertain significance
NM_024757.5(EHMT1):c.2656G>A (p.Val886Met) single nucleotide variant Kleefstra syndrome 1 [RCV000387478] Chr9:137800928 [GRCh38]
Chr9:140695380 [GRCh37]
Chr9:9q34.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024757.5(EHMT1):c.3716+4C>T single nucleotide variant Inborn genetic diseases [RCV002348122]|Kleefstra syndrome 1 [RCV000285546]|not provided [RCV001539380] Chr9:137834528 [GRCh38]
Chr9:140728980 [GRCh37]
Chr9:9q34.3
benign|likely benign
NM_024757.5(EHMT1):c.1402G>A (p.Ala468Thr) single nucleotide variant Inborn genetic diseases [RCV002524596]|Kleefstra syndrome 1 [RCV000296037]|not provided [RCV001566698] Chr9:137757912 [GRCh38]
Chr9:140652364 [GRCh37]
Chr9:9q34.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_024757.5(EHMT1):c.2961C>T (p.Ser987=) single nucleotide variant Kleefstra syndrome 1 [RCV002061968]|not provided [RCV000585178] Chr9:137813099 [GRCh38]
Chr9:140707551 [GRCh37]
Chr9:9q34.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024757.5(EHMT1):c.*1025dup duplication Kleefstra syndrome 1 [RCV000322019] Chr9:137835970..137835971 [GRCh38]
Chr9:140730422..140730423 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.3834C>A (p.Ala1278=) single nucleotide variant Kleefstra syndrome 1 [RCV000337173] Chr9:137834890 [GRCh38]
Chr9:140729342 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.633C>T (p.Val211=) single nucleotide variant Kleefstra syndrome 1 [RCV002182973] Chr9:137717173 [GRCh38]
Chr9:140611625 [GRCh37]
Chr9:9q34.3
benign|likely benign
NM_024757.5(EHMT1):c.1181A>C (p.Glu394Ala) single nucleotide variant Kleefstra syndrome 1 [RCV000371414] Chr9:137752341 [GRCh38]
Chr9:140646793 [GRCh37]
Chr9:9q34.3
conflicting interpretations of pathogenicity|uncertain significance
NM_024757.5(EHMT1):c.*667C>T single nucleotide variant Kleefstra syndrome 1 [RCV000309319] Chr9:137835620 [GRCh38]
Chr9:140730072 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.438G>A (p.Ser146=) single nucleotide variant Kleefstra syndrome 1 [RCV000323468] Chr9:137716978 [GRCh38]
Chr9:140611430 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.3774C>T (p.Cys1258=) single nucleotide variant Inborn genetic diseases [RCV002317869]|Kleefstra syndrome 1 [RCV000371947] Chr9:137834830 [GRCh38]
Chr9:140729282 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.*204C>T single nucleotide variant Kleefstra syndrome 1 [RCV000390362] Chr9:137835157 [GRCh38]
Chr9:140729609 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.4(EHMT1):c.*1179G>T single nucleotide variant Kleefstra syndrome 1 [RCV000392560] Chr9:137836132 [GRCh38]
Chr9:140730584 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.1931A>C (p.Lys644Thr) single nucleotide variant Kleefstra syndrome 1 [RCV002210783] Chr9:137776757 [GRCh38]
Chr9:140671209 [GRCh37]
Chr9:9q34.3
likely benign|uncertain significance
NM_024757.5(EHMT1):c.2167G>A (p.Ala723Thr) single nucleotide variant Kleefstra syndrome 1 [RCV001319681] Chr9:137778030 [GRCh38]
Chr9:140672482 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.2175C>T (p.Ile725=) single nucleotide variant Kleefstra syndrome 1 [RCV000356164] Chr9:137778038 [GRCh38]
Chr9:140672490 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.150G>A (p.Ala50=) single nucleotide variant Inborn genetic diseases [RCV002314102]|Kleefstra syndrome 1 [RCV000392911]|not provided [RCV001706609]|not specified [RCV000500483] Chr9:137716690 [GRCh38]
Chr9:140611142 [GRCh37]
Chr9:9q34.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024757.5(EHMT1):c.3123C>G (p.Val1041=) single nucleotide variant Kleefstra syndrome 1 [RCV000299962]|not provided [RCV003437145] Chr9:137813473 [GRCh38]
Chr9:140707925 [GRCh37]
Chr9:9q34.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024757.5(EHMT1):c.3377C>T (p.Ala1126Val) single nucleotide variant Inborn genetic diseases [RCV002314104]|Kleefstra syndrome 1 [RCV001523072]|not provided [RCV000859799] Chr9:137817441 [GRCh38]
Chr9:140711893 [GRCh37]
Chr9:9q34.3
benign|likely benign|uncertain significance
NM_024757.5(EHMT1):c.251G>A (p.Gly84Asp) single nucleotide variant Inborn genetic diseases [RCV002317867]|Kleefstra syndrome 1 [RCV000326076]|not provided [RCV001706610]|not specified [RCV000501957] Chr9:137716791 [GRCh38]
Chr9:140611243 [GRCh37]
Chr9:9q34.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_024757.5(EHMT1):c.1299C>T (p.Thr433=) single nucleotide variant Kleefstra syndrome 1 [RCV002083049] Chr9:137754221 [GRCh38]
Chr9:140648673 [GRCh37]
Chr9:9q34.3
likely benign|uncertain significance
NM_024757.5(EHMT1):c.2767G>A (p.Glu923Lys) single nucleotide variant Inborn genetic diseases [RCV002317868]|Kleefstra syndrome 1 [RCV000289745] Chr9:137811515 [GRCh38]
Chr9:140705967 [GRCh37]
Chr9:9q34.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024757.5(EHMT1):c.1149G>A (p.Ser383=) single nucleotide variant Inborn genetic diseases [RCV002314103]|Kleefstra syndrome 1 [RCV000359115]|not provided [RCV001706612] Chr9:137744069 [GRCh38]
Chr9:140638521 [GRCh37]
Chr9:9q34.3
benign|likely benign
NM_024757.5(EHMT1):c.405G>T (p.Gln135His) single nucleotide variant Kleefstra syndrome 1 [RCV000377043] Chr9:137716945 [GRCh38]
Chr9:140611397 [GRCh37]
Chr9:9q34.3
likely benign|uncertain significance
NM_024757.5(EHMT1):c.533C>A (p.Thr178Asn) single nucleotide variant Kleefstra syndrome 1 [RCV000395696] Chr9:137717073 [GRCh38]
Chr9:140611525 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.3258+14C>T single nucleotide variant Kleefstra syndrome 1 [RCV002118704] Chr9:137814522 [GRCh38]
Chr9:140708974 [GRCh37]
Chr9:9q34.3
likely benign|uncertain significance
NM_024757.5(EHMT1):c.153C>T (p.Asp51=) single nucleotide variant Kleefstra syndrome 1 [RCV000313120]|not provided [RCV001549995] Chr9:137716693 [GRCh38]
Chr9:140611145 [GRCh37]
Chr9:9q34.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024757.5(EHMT1):c.3641T>C (p.Met1214Thr) single nucleotide variant Kleefstra syndrome 1 [RCV002028651] Chr9:137834449 [GRCh38]
Chr9:140728901 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.3035+3G>A single nucleotide variant Inborn genetic diseases [RCV002523762]|Kleefstra syndrome 1 [RCV000396682] Chr9:137813176 [GRCh38]
Chr9:140707628 [GRCh37]
Chr9:9q34.3
likely benign|uncertain significance
NM_024757.5(EHMT1):c.631G>A (p.Val211Ile) single nucleotide variant Inborn genetic diseases [RCV002365440]|Kleefstra syndrome 1 [RCV000314005] Chr9:137717171 [GRCh38]
Chr9:140611623 [GRCh37]
Chr9:9q34.3
benign|likely benign
NM_024757.5(EHMT1):c.*1018T>G single nucleotide variant Kleefstra syndrome 1 [RCV000360653] Chr9:137835971 [GRCh38]
Chr9:140730423 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.2442C>T (p.Ala814=) single nucleotide variant Inborn genetic diseases [RCV002456297]|Kleefstra syndrome 1 [RCV001084102]|not provided [RCV000596195] Chr9:137790907 [GRCh38]
Chr9:140685359 [GRCh37]
Chr9:9q34.3
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024757.5(EHMT1):c.3885del (p.Asp1296fs) deletion not provided [RCV000596205] Chr9:137834940 [GRCh38]
Chr9:140729392 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.3346C>T (p.Arg1116Ter) single nucleotide variant Inborn genetic diseases [RCV000623269] Chr9:137816034 [GRCh38]
Chr9:140710486 [GRCh37]
Chr9:9q34.3
pathogenic
NM_024757.5(EHMT1):c.3668G>A (p.Arg1223Gln) single nucleotide variant not provided [RCV000598404] Chr9:137834476 [GRCh38]
Chr9:140728928 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.3259-1G>A single nucleotide variant Kleefstra syndrome 1 [RCV002530372]|not provided [RCV000578826] Chr9:137815946 [GRCh38]
Chr9:140710398 [GRCh37]
Chr9:9q34.3
pathogenic|likely pathogenic
NM_024757.5(EHMT1):c.733G>T (p.Gly245Ter) single nucleotide variant not provided [RCV000578951] Chr9:137728439 [GRCh38]
Chr9:140622891 [GRCh37]
Chr9:9q34.3
pathogenic
NM_024757.5(EHMT1):c.181_190delinsCCATT (p.Ser61fs) indel not provided [RCV000598938] Chr9:137716721..137716730 [GRCh38]
Chr9:140611173..140611182 [GRCh37]
Chr9:9q34.3
pathogenic
NM_024757.5(EHMT1):c.610C>T (p.Arg204Cys) single nucleotide variant Kleefstra syndrome 1 [RCV000531757] Chr9:137717150 [GRCh38]
Chr9:140611602 [GRCh37]
Chr9:9q34.3
likely benign|uncertain significance
NM_024757.5(EHMT1):c.2405G>A (p.Cys802Tyr) single nucleotide variant not provided [RCV000597558] Chr9:137790870 [GRCh38]
Chr9:140685322 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.756dup (p.Phe253fs) duplication Kleefstra syndrome 1 [RCV003333084]|not provided [RCV000599099] Chr9:137728456..137728457 [GRCh38]
Chr9:140622908..140622909 [GRCh37]
Chr9:9q34.3
pathogenic|likely pathogenic
NM_024757.5(EHMT1):c.3180+5G>A single nucleotide variant Kleefstra syndrome 1 [RCV002532702]|not provided [RCV000599101] Chr9:137813535 [GRCh38]
Chr9:140707987 [GRCh37]
Chr9:9q34.3
likely benign|uncertain significance
NM_024757.5(EHMT1):c.756del (p.Phe253fs) deletion not provided [RCV000627630] Chr9:137728457 [GRCh38]
Chr9:140622909 [GRCh37]
Chr9:9q34.3
pathogenic
NM_024757.5(EHMT1):c.2506-2A>G single nucleotide variant not provided [RCV000599246] Chr9:137798811 [GRCh38]
Chr9:140693263 [GRCh37]
Chr9:9q34.3
pathogenic
NM_024757.5(EHMT1):c.1602dup (p.Leu535fs) duplication not provided [RCV000599353] Chr9:137762774..137762775 [GRCh38]
Chr9:140657226..140657227 [GRCh37]
Chr9:9q34.3
pathogenic
NM_024757.5(EHMT1):c.3322G>A (p.Ala1108Thr) single nucleotide variant Kleefstra syndrome 1 [RCV000764827]|not provided [RCV000593453] Chr9:137816010 [GRCh38]
Chr9:140710462 [GRCh37]
Chr9:9q34.3
conflicting interpretations of pathogenicity|uncertain significance
NM_024757.5(EHMT1):c.985G>C (p.Glu329Gln) single nucleotide variant Kleefstra syndrome 1 [RCV000532924] Chr9:137743905 [GRCh38]
Chr9:140638357 [GRCh37]
Chr9:9q34.3
likely benign|uncertain significance
NM_024757.5(EHMT1):c.3522C>T (p.Leu1174=) single nucleotide variant Kleefstra syndrome 1 [RCV000638416] Chr9:137818120 [GRCh38]
Chr9:140712572 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.33G>A (p.Ala11=) single nucleotide variant Inborn genetic diseases [RCV002458029]|Kleefstra syndrome 1 [RCV000638421] Chr9:137710978 [GRCh38]
Chr9:140605430 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.498C>T (p.Ser166=) single nucleotide variant Kleefstra syndrome 1 [RCV000638422] Chr9:137717038 [GRCh38]
Chr9:140611490 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.470G>A (p.Gly157Glu) single nucleotide variant Kleefstra syndrome 1 [RCV000638403] Chr9:137717010 [GRCh38]
Chr9:140611462 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.2616A>G (p.Gly872=) single nucleotide variant Inborn genetic diseases [RCV002431583]|Kleefstra syndrome 1 [RCV000530448]|not provided [RCV001561564] Chr9:137800888 [GRCh38]
Chr9:140695340 [GRCh37]
Chr9:9q34.3
benign|likely benign
NM_024757.5(EHMT1):c.1647+2T>C single nucleotide variant Kleefstra syndrome 1 [RCV000856744]|Schizophrenia [RCV000414996] Chr9:137762822 [GRCh38]
Chr9:140657274 [GRCh37]
Chr9:9q34.3
pathogenic|likely pathogenic
NM_024757.5(EHMT1):c.2712+1G>A single nucleotide variant Global developmental delay [RCV000415193]|Kleefstra syndrome 1 [RCV001007951]|not provided [RCV000521222] Chr9:137800985 [GRCh38]
Chr9:140695437 [GRCh37]
Chr9:9q34.3
pathogenic
NM_024757.5(EHMT1):c.3611A>T (p.Glu1204Val) single nucleotide variant Kleefstra syndrome 1 [RCV000535065] Chr9:137834419 [GRCh38]
Chr9:140728871 [GRCh37]
Chr9:9q34.3
likely benign|uncertain significance
NM_024757.5(EHMT1):c.311C>T (p.Ala104Val) single nucleotide variant Inborn genetic diseases [RCV003243180]|Kleefstra syndrome 1 [RCV000539572]|not provided [RCV001709664] Chr9:137716851 [GRCh38]
Chr9:140611303 [GRCh37]
Chr9:9q34.3
benign|likely benign|uncertain significance
NM_024757.5(EHMT1):c.1382A>G (p.Tyr461Cys) single nucleotide variant Kleefstra syndrome 1 [RCV000557700] Chr9:137757892 [GRCh38]
Chr9:140652344 [GRCh37]
Chr9:9q34.3
likely benign|uncertain significance
NM_024757.5(EHMT1):c.3461+1G>C single nucleotide variant Kleefstra syndrome 1 [RCV003214124] Chr9:137817526 [GRCh38]
Chr9:140711978 [GRCh37]
Chr9:9q34.3
likely pathogenic
NM_024757.5(EHMT1):c.2739G>A (p.Ala913=) single nucleotide variant Kleefstra syndrome 1 [RCV000560717] Chr9:137811487 [GRCh38]
Chr9:140705939 [GRCh37]
Chr9:9q34.3
benign|uncertain significance
NM_024757.5(EHMT1):c.1202C>A (p.Ser401Tyr) single nucleotide variant Kleefstra syndrome 1 [RCV000555771] Chr9:137752362 [GRCh38]
Chr9:140646814 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.3860C>T (p.Pro1287Leu) single nucleotide variant not specified [RCV000413550] Chr9:137834916 [GRCh38]
Chr9:140729368 [GRCh37]
Chr9:9q34.3
uncertain significance
GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407) copy number gain See cases [RCV000449375] Chr9:62525..141006407 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9q34.3(chr9:140620020-140854178)x1 copy number loss See cases [RCV000449333] Chr9:140620020..140854178 [GRCh37]
Chr9:9q34.3
pathogenic
GRCh37/hg19 9q34.3(chr9:140309120-141018925)x1 copy number loss See cases [RCV000449201] Chr9:140309120..141018925 [GRCh37]
Chr9:9q34.3
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3 copy number gain See cases [RCV000447207] Chr9:203861..141020389 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9q34.3(chr9:140674209-140674383)x3 copy number gain See cases [RCV000447288] Chr9:140674209..140674383 [GRCh37]
Chr9:9q34.3
likely benign
GRCh37/hg19 9q34.3(chr9:140444759-140878805)x1 copy number loss See cases [RCV000446849] Chr9:140444759..140878805 [GRCh37]
Chr9:9q34.3
pathogenic
GRCh37/hg19 9q34.3(chr9:140728811-140729203)x3 copy number gain See cases [RCV000447122] Chr9:140728811..140729203 [GRCh37]
Chr9:9q34.3
likely benign
GRCh37/hg19 9q34.3(chr9:140444759-140730408)x1 copy number loss See cases [RCV000446742] Chr9:140444759..140730408 [GRCh37]
Chr9:9q34.3
pathogenic
GRCh37/hg19 9q34.3(chr9:140550908-140632178)x1 copy number loss See cases [RCV000447416] Chr9:140550908..140632178 [GRCh37]
Chr9:9q34.3
likely pathogenic
GRCh37/hg19 9q33.3-34.3(chr9:128652785-141044751)x3 copy number gain See cases [RCV000447080] Chr9:128652785..141044751 [GRCh37]
Chr9:9q33.3-34.3
pathogenic
GRCh37/hg19 9q34.3(chr9:138222049-141018925)x1 copy number loss See cases [RCV000446074] Chr9:138222049..141018925 [GRCh37]
Chr9:9q34.3
pathogenic
GRCh37/hg19 9q34.3(chr9:140043049-141020389)x1 copy number loss See cases [RCV000446191] Chr9:140043049..141020389 [GRCh37]
Chr9:9q34.3
pathogenic
NM_024757.5(EHMT1):c.2224del (p.Leu742fs) deletion Kleefstra syndrome 1 [RCV000679974] Chr9:137779666 [GRCh38]
Chr9:140674118 [GRCh37]
Chr9:9q34.3
pathogenic
NM_024757.5(EHMT1):c.3462-10C>G single nucleotide variant not provided [RCV000418352] Chr9:137818050 [GRCh38]
Chr9:140712502 [GRCh37]
Chr9:9q34.3
likely pathogenic
NM_024757.5(EHMT1):c.2622G>A (p.Trp874Ter) single nucleotide variant not provided [RCV000418911] Chr9:137800894 [GRCh38]
Chr9:140695346 [GRCh37]
Chr9:9q34.3
pathogenic
NM_024757.5(EHMT1):c.2214_2230dup (p.Phe744fs) duplication Kleefstra syndrome 1 [RCV000505190] Chr9:137779655..137779656 [GRCh38]
Chr9:140674107..140674108 [GRCh37]
Chr9:9q34.3
pathogenic
GRCh37/hg19 9q34.3(chr9:140652116-140669912)x1 copy number loss See cases [RCV000445744] Chr9:140652116..140669912 [GRCh37]
Chr9:9q34.3
pathogenic
GRCh37/hg19 9q34.3(chr9:140637559-140638660)x1 copy number loss See cases [RCV000445801] Chr9:140637559..140638660 [GRCh37]
Chr9:9q34.3
pathogenic
GRCh37/hg19 9q34.3(chr9:140710536-140710647)x1 copy number loss See cases [RCV000447897] Chr9:140710536..140710647 [GRCh37]
Chr9:9q34.3
likely benign
GRCh37/hg19 9q34.3(chr9:139282807-141020389)x1 copy number loss See cases [RCV000448743] Chr9:139282807..141020389 [GRCh37]
Chr9:9q34.3
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203864-141020389)x3 copy number gain See cases [RCV000448978] Chr9:203864..141020389 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9q33.2-34.3(chr9:124642754-141146461)x3 copy number gain See cases [RCV000448784] Chr9:124642754..141146461 [GRCh37]
Chr9:9q33.2-34.3
pathogenic
NM_024757.5(EHMT1):c.2712+1G>C single nucleotide variant not provided [RCV000480859] Chr9:137800985 [GRCh38]
Chr9:140695437 [GRCh37]
Chr9:9q34.3
likely pathogenic
NM_024757.5(EHMT1):c.3043G>A (p.Ala1015Thr) single nucleotide variant Kleefstra syndrome 1 [RCV002525980]|not provided [RCV001712567] Chr9:137813393 [GRCh38]
Chr9:140707845 [GRCh37]
Chr9:9q34.3
likely benign|uncertain significance
NM_024757.5(EHMT1):c.2420G>A (p.Arg807Lys) single nucleotide variant Inborn genetic diseases [RCV002311807]|Kleefstra syndrome 1 [RCV000798947]|not provided [RCV000479447] Chr9:137790885 [GRCh38]
Chr9:140685337 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.1816G>A (p.Glu606Lys) single nucleotide variant not provided [RCV000484194] Chr9:137776642 [GRCh38]
Chr9:140671094 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.1061_1062del (p.Glu354fs) microsatellite Kleefstra syndrome 1 [RCV001333219]|not provided [RCV000483329] Chr9:137743979..137743980 [GRCh38]
Chr9:140638431..140638432 [GRCh37]
Chr9:9q34.3
pathogenic
NM_024757.5(EHMT1):c.3626_3631dup (p.Pro1209_Val1210dup) duplication not provided [RCV000484649] Chr9:137834429..137834430 [GRCh38]
Chr9:140728881..140728882 [GRCh37]
Chr9:9q34.3
likely pathogenic
NM_024757.5(EHMT1):c.3127C>T (p.Gln1043Ter) single nucleotide variant not provided [RCV000479136] Chr9:137813477 [GRCh38]
Chr9:140707929 [GRCh37]
Chr9:9q34.3
pathogenic
NM_024757.5(EHMT1):c.1752G>T (p.Lys584Asn) single nucleotide variant not provided [RCV000487082] Chr9:137775213 [GRCh38]
Chr9:140669665 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.355del (p.Val119fs) deletion not provided [RCV000487296] Chr9:137716895 [GRCh38]
Chr9:140611347 [GRCh37]
Chr9:9q34.3
pathogenic
GRCh37/hg19 9q34.3(chr9:140639661-140726103)x1 copy number loss See cases [RCV000510244] Chr9:140639661..140726103 [GRCh37]
Chr9:9q34.3
pathogenic
NM_024757.5(EHMT1):c.85+9G>A single nucleotide variant Kleefstra syndrome 1 [RCV000638419]|not specified [RCV000503254] Chr9:137711039 [GRCh38]
Chr9:140605491 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.3374+9C>G single nucleotide variant Kleefstra syndrome 1 [RCV002060110]|not specified [RCV000503343] Chr9:137816071 [GRCh38]
Chr9:140710523 [GRCh37]
Chr9:9q34.3
likely benign|uncertain significance
GRCh37/hg19 9q34.3(chr9:140533290-140716973)x1 copy number loss See cases [RCV000510473] Chr9:140533290..140716973 [GRCh37]
Chr9:9q34.3
pathogenic
NM_024757.5(EHMT1):c.1858C>A (p.Arg620=) single nucleotide variant Kleefstra syndrome 1 [RCV000912037]|not specified [RCV000503509] Chr9:137776684 [GRCh38]
Chr9:140671136 [GRCh37]
Chr9:9q34.3
benign|likely benign
NM_024757.5(EHMT1):c.1176C>T (p.Asp392=) single nucleotide variant Inborn genetic diseases [RCV002329192]|Kleefstra syndrome 1 [RCV000538605]|not specified [RCV000501369] Chr9:137752336 [GRCh38]
Chr9:140646788 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.2608-3C>T single nucleotide variant Kleefstra syndrome 1 [RCV000554146] Chr9:137800877 [GRCh38]
Chr9:140695329 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.3105C>T (p.Pro1035=) single nucleotide variant Kleefstra syndrome 1 [RCV001410345]|not specified [RCV000501891] Chr9:137813455 [GRCh38]
Chr9:140707907 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.162C>G (p.Thr54=) single nucleotide variant Kleefstra syndrome 1 [RCV001471143]|not specified [RCV000499542] Chr9:137716702 [GRCh38]
Chr9:140611154 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.1636G>A (p.Val546Met) single nucleotide variant Kleefstra syndrome 1 [RCV001217006]|not provided [RCV001534286]|not specified [RCV000504255] Chr9:137762809 [GRCh38]
Chr9:140657261 [GRCh37]
Chr9:9q34.3
benign|likely benign|uncertain significance
NM_024757.5(EHMT1):c.2368C>T (p.His790Tyr) single nucleotide variant not specified [RCV000504542] Chr9:137782383 [GRCh38]
Chr9:140676835 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.1107G>A (p.Ala369=) single nucleotide variant Kleefstra syndrome 1 [RCV000946411]|not provided [RCV001672810]|not specified [RCV000499884] Chr9:137744027 [GRCh38]
Chr9:140638479 [GRCh37]
Chr9:9q34.3
benign|likely benign
NM_024757.5(EHMT1):c.3583_3594del (p.Val1195_Phe1198del) deletion Kleefstra syndrome 1 [RCV000502285] Chr9:137834390..137834401 [GRCh38]
Chr9:140728842..140728853 [GRCh37]
Chr9:9q34.3
likely pathogenic
NM_024757.5(EHMT1):c.2755G>A (p.Val919Met) single nucleotide variant EHMT1-related condition [RCV003403164]|Kleefstra syndrome 1 [RCV001857093]|not provided [RCV002060111]|not specified [RCV000500187] Chr9:137811503 [GRCh38]
Chr9:140705955 [GRCh37]
Chr9:9q34.3
benign|likely benign|uncertain significance
NM_024757.5(EHMT1):c.358A>G (p.Ile120Val) single nucleotide variant Kleefstra syndrome 1 [RCV002527245]|not specified [RCV000502447] Chr9:137716898 [GRCh38]
Chr9:140611350 [GRCh37]
Chr9:9q34.3
likely benign|uncertain significance
GRCh37/hg19 9q34.3(chr9:140657896-140685432)x3 copy number gain See cases [RCV000510324] Chr9:140657896..140685432 [GRCh37]
Chr9:9q34.3
conflicting data from submitters
NM_024757.5(EHMT1):c.1014C>T (p.His338=) single nucleotide variant not specified [RCV000502997] Chr9:137743934 [GRCh38]
Chr9:140638386 [GRCh37]
Chr9:9q34.3
likely benign
GRCh37/hg19 9q34.3(chr9:138209358-141020389)x1 copy number loss See cases [RCV000510584] Chr9:138209358..141020389 [GRCh37]
Chr9:9q34.3
pathogenic
GRCh37/hg19 9q34.3(chr9:140705084-140711209)x1 copy number loss See cases [RCV000511619] Chr9:140705084..140711209 [GRCh37]
Chr9:9q34.3
pathogenic
NM_024757.5(EHMT1):c.417dup (p.Thr140fs) duplication not provided [RCV000494463] Chr9:137716956..137716957 [GRCh38]
Chr9:140611408..140611409 [GRCh37]
Chr9:9q34.3
pathogenic
GRCh37/hg19 9q34.3(chr9:140667620-140677737)x1 copy number loss See cases [RCV000511240] Chr9:140667620..140677737 [GRCh37]
Chr9:9q34.3
pathogenic
NM_024757.5(EHMT1):c.3174T>C (p.His1058=) single nucleotide variant Kleefstra syndrome 1 [RCV001412328] Chr9:137813524 [GRCh38]
Chr9:140707976 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.508C>T (p.Gln170Ter) single nucleotide variant Kleefstra syndrome 1 [RCV002529047]|not provided [RCV000579181] Chr9:137717048 [GRCh38]
Chr9:140611500 [GRCh37]
Chr9:9q34.3
pathogenic
GRCh37/hg19 9q34.3(chr9:138275621-141020389)x3 copy number gain See cases [RCV000511188] Chr9:138275621..141020389 [GRCh37]
Chr9:9q34.3
likely pathogenic
GRCh37/hg19 9q34.3(chr9:140716758-141020389)x3 copy number gain See cases [RCV000511299] Chr9:140716758..141020389 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.2865C>T (p.Val955=) single nucleotide variant Kleefstra syndrome 1 [RCV000557089] Chr9:137811613 [GRCh38]
Chr9:140706065 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.932C>T (p.Thr311Met) single nucleotide variant Kleefstra syndrome 1 [RCV000638406]|not provided [RCV001653964] Chr9:137743479 [GRCh38]
Chr9:140637931 [GRCh37]
Chr9:9q34.3
benign|likely benign|uncertain significance
NM_024757.5(EHMT1):c.676G>A (p.Glu226Lys) single nucleotide variant Kleefstra syndrome 1 [RCV000638398] Chr9:137728382 [GRCh38]
Chr9:140622834 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.624G>A (p.Pro208=) single nucleotide variant Kleefstra syndrome 1 [RCV000638426] Chr9:137717164 [GRCh38]
Chr9:140611616 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.3747C>T (p.Ile1249=) single nucleotide variant Kleefstra syndrome 1 [RCV000638413] Chr9:137834803 [GRCh38]
Chr9:140729255 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.3716+9C>T single nucleotide variant Kleefstra syndrome 1 [RCV000638408] Chr9:137834533 [GRCh38]
Chr9:140728985 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.23C>T (p.Ala8Val) single nucleotide variant Kleefstra syndrome 1 [RCV000638400] Chr9:137710968 [GRCh38]
Chr9:140605420 [GRCh37]
Chr9:9q34.3
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024757.5(EHMT1):c.336C>G (p.Asp112Glu) single nucleotide variant Kleefstra syndrome 1 [RCV000638397] Chr9:137716876 [GRCh38]
Chr9:140611328 [GRCh37]
Chr9:9q34.3
benign|uncertain significance
NM_024757.5(EHMT1):c.2596G>A (p.Val866Ile) single nucleotide variant Kleefstra syndrome 1 [RCV000638395]|not provided [RCV001597193] Chr9:137798903 [GRCh38]
Chr9:140693355 [GRCh37]
Chr9:9q34.3
benign|likely benign|uncertain significance
GRCh37/hg19 9q34.13-34.3(chr9:135377559-141213431)x1 copy number loss mTOR Inhibitor response [RCV000626442] Chr9:135377559..141213431 [GRCh37]
Chr9:9q34.13-34.3
drug response
NM_024757.5(EHMT1):c.396_397delinsTG (p.Gln133Glu) indel Kleefstra syndrome 1 [RCV000537226] Chr9:137716936..137716937 [GRCh38]
Chr9:140611388..140611389 [GRCh37]
Chr9:9q34.3
likely benign|uncertain significance
NM_024757.5(EHMT1):c.1655G>A (p.Arg552Gln) single nucleotide variant Inborn genetic diseases [RCV002311859]|Kleefstra syndrome 1 [RCV000559752] Chr9:137775116 [GRCh38]
Chr9:140669568 [GRCh37]
Chr9:9q34.3
likely benign|uncertain significance
NM_024757.5(EHMT1):c.824-1G>T single nucleotide variant not provided [RCV000514510] Chr9:137743370 [GRCh38]
Chr9:140637822 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.1433G>A (p.Gly478Glu) single nucleotide variant Inborn genetic diseases [RCV002395355]|Kleefstra syndrome 1 [RCV000534589] Chr9:137757943 [GRCh38]
Chr9:140652395 [GRCh37]
Chr9:9q34.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024757.5(EHMT1):c.3180+10G>A single nucleotide variant Kleefstra syndrome 1 [RCV001084545]|not provided [RCV000514935] Chr9:137813540 [GRCh38]
Chr9:140707992 [GRCh37]
Chr9:9q34.3
benign|likely benign
NM_024757.5(EHMT1):c.390G>A (p.Pro130=) single nucleotide variant Kleefstra syndrome 1 [RCV001514188]|not provided [RCV000597175] Chr9:137716930 [GRCh38]
Chr9:140611382 [GRCh37]
Chr9:9q34.3
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024757.5(EHMT1):c.2799C>T (p.His933=) single nucleotide variant Inborn genetic diseases [RCV002438692]|Kleefstra syndrome 1 [RCV000638414]|not provided [RCV001662686] Chr9:137811547 [GRCh38]
Chr9:140705999 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.3726T>C (p.Tyr1242=) single nucleotide variant Kleefstra syndrome 1 [RCV000638410] Chr9:137834782 [GRCh38]
Chr9:140729234 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.342T>C (p.Phe114=) single nucleotide variant Kleefstra syndrome 1 [RCV000638407] Chr9:137716882 [GRCh38]
Chr9:140611334 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.1792-9C>A single nucleotide variant Kleefstra syndrome 1 [RCV000638404] Chr9:137776609 [GRCh38]
Chr9:140671061 [GRCh37]
Chr9:9q34.3
likely benign|uncertain significance
NM_024757.5(EHMT1):c.376A>G (p.Ile126Val) single nucleotide variant Kleefstra syndrome 1 [RCV000638394] Chr9:137716916 [GRCh38]
Chr9:140611368 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.2280C>T (p.Asp760=) single nucleotide variant Inborn genetic diseases [RCV002311980]|Kleefstra syndrome 1 [RCV000638420]|not provided [RCV001644723] Chr9:137782295 [GRCh38]
Chr9:140676747 [GRCh37]
Chr9:9q34.3
benign|likely benign
NM_024757.5(EHMT1):c.1983G>A (p.Ser661=) single nucleotide variant Kleefstra syndrome 1 [RCV000638423]|not provided [RCV001672906] Chr9:137776809 [GRCh38]
Chr9:140671261 [GRCh37]
Chr9:9q34.3
benign
NM_024757.5(EHMT1):c.900T>C (p.Pro300=) single nucleotide variant Kleefstra syndrome 1 [RCV000638424] Chr9:137743447 [GRCh38]
Chr9:140637899 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.240C>T (p.Asn80=) single nucleotide variant Inborn genetic diseases [RCV002317392]|Kleefstra syndrome 1 [RCV000638409]|not provided [RCV001572400] Chr9:137716780 [GRCh38]
Chr9:140611232 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.546G>T (p.Gly182=) single nucleotide variant Kleefstra syndrome 1 [RCV000638405] Chr9:137717086 [GRCh38]
Chr9:140611538 [GRCh37]
Chr9:9q34.3
likely benign|uncertain significance
NM_024757.5(EHMT1):c.38G>A (p.Gly13Glu) single nucleotide variant Kleefstra syndrome 1 [RCV000638396]|not provided [RCV003318613] Chr9:137710983 [GRCh38]
Chr9:140605435 [GRCh37]
Chr9:9q34.3
likely benign|uncertain significance
NM_024757.5(EHMT1):c.1177G>T (p.Gly393Trp) single nucleotide variant Kleefstra syndrome 1 [RCV000638393] Chr9:137752337 [GRCh38]
Chr9:140646789 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.1081G>A (p.Gly361Ser) single nucleotide variant Kleefstra syndrome 1 [RCV000638392]|not provided [RCV001570452]|not specified [RCV001816584] Chr9:137744001 [GRCh38]
Chr9:140638453 [GRCh37]
Chr9:9q34.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024757.5(EHMT1):c.1140G>C (p.Glu380Asp) single nucleotide variant Inborn genetic diseases [RCV002458028]|Intellectual disability [RCV001252232]|Kleefstra syndrome 1 [RCV000638391]|not provided [RCV001591423] Chr9:137744060 [GRCh38]
Chr9:140638512 [GRCh37]
Chr9:9q34.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024757.5(EHMT1):c.3126_3127del (p.Gln1043fs) microsatellite not provided [RCV000523361] Chr9:137813472..137813473 [GRCh38]
Chr9:140707924..140707925 [GRCh37]
Chr9:9q34.3
pathogenic
NM_024757.5(EHMT1):c.204T>C (p.Asn68=) single nucleotide variant Inborn genetic diseases [RCV002316540]|Kleefstra syndrome 1 [RCV000540746]|not provided [RCV001584267] Chr9:137716744 [GRCh38]
Chr9:140611196 [GRCh37]
Chr9:9q34.3
benign|likely benign
NM_024757.5(EHMT1):c.2188dup (p.Glu730fs) duplication Inborn genetic diseases [RCV000624059] Chr9:137778049..137778050 [GRCh38]
Chr9:140672501..140672502 [GRCh37]
Chr9:9q34.3
pathogenic
NM_024757.5(EHMT1):c.3321_3326delinsTT (p.Ala1108fs) indel Inborn genetic diseases [RCV000622672] Chr9:137816009..137816014 [GRCh38]
Chr9:140710461..140710466 [GRCh37]
Chr9:9q34.3
pathogenic
NM_024757.5(EHMT1):c.3321C>T (p.His1107=) single nucleotide variant Kleefstra syndrome 1 [RCV000554701] Chr9:137816009 [GRCh38]
Chr9:140710461 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.682del (p.Arg228fs) deletion not provided [RCV000523530] Chr9:137728388 [GRCh38]
Chr9:140622840 [GRCh37]
Chr9:9q34.3
pathogenic
NM_024757.5(EHMT1):c.1133C>T (p.Ser378Phe) single nucleotide variant Kleefstra syndrome 1 [RCV001486647] Chr9:137744053 [GRCh38]
Chr9:140638505 [GRCh37]
Chr9:9q34.3
likely benign|uncertain significance
NM_024757.5(EHMT1):c.642+38A>G single nucleotide variant not provided [RCV001613389]|not specified [RCV000596634] Chr9:137717220 [GRCh38]
Chr9:140611672 [GRCh37]
Chr9:9q34.3
benign
NM_024757.5(EHMT1):c.1434_1435del (p.Tyr479fs) deletion Kleefstra syndrome 1 [RCV000655937] Chr9:137757944..137757945 [GRCh38]
Chr9:140652396..140652397 [GRCh37]
Chr9:9q34.3
pathogenic
NM_024757.5(EHMT1):c.102C>T (p.Ala34=) single nucleotide variant Kleefstra syndrome 1 [RCV000538960]|not provided [RCV003437249] Chr9:137716642 [GRCh38]
Chr9:140611094 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.3154A>G (p.Ile1052Val) single nucleotide variant Kleefstra syndrome 1 [RCV003315198] Chr9:137813504 [GRCh38]
Chr9:140707956 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.2963C>T (p.Ala988Val) single nucleotide variant Kleefstra syndrome 1 [RCV000558266] Chr9:137813101 [GRCh38]
Chr9:140707553 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.35G>T (p.Arg12Met) single nucleotide variant Kleefstra syndrome 1 [RCV000559013] Chr9:137710980 [GRCh38]
Chr9:140605432 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.499G>A (p.Ala167Thr) single nucleotide variant Inborn genetic diseases [RCV002317391]|Kleefstra syndrome 1 [RCV000638401]|not provided [RCV001354520] Chr9:137717039 [GRCh38]
Chr9:140611491 [GRCh37]
Chr9:9q34.3
benign|likely benign|uncertain significance
NM_024757.5(EHMT1):c.145G>T (p.Ala49Ser) single nucleotide variant Kleefstra syndrome 1 [RCV000638399] Chr9:137716685 [GRCh38]
Chr9:140611137 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.2516G>T (p.Gly839Val) single nucleotide variant Kleefstra syndrome 1 [RCV000625971] Chr9:137798823 [GRCh38]
Chr9:140693275 [GRCh37]
Chr9:9q34.3
likely pathogenic
NM_024757.5(EHMT1):c.3649C>T (p.Gln1217Ter) single nucleotide variant not provided [RCV000578950] Chr9:137834457 [GRCh38]
Chr9:140728909 [GRCh37]
Chr9:9q34.3
pathogenic
GRCh37/hg19 9q21.11-34.3(chr9:71069743-140999928) copy number gain Global developmental delay [RCV000626548] Chr9:71069743..140999928 [GRCh37]
Chr9:9q21.11-34.3
likely pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389) copy number gain See cases [RCV000512392] Chr9:203862..141020389 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
NM_024757.5(EHMT1):c.1588C>T (p.Arg530Ter) single nucleotide variant Kleefstra syndrome 1 [RCV001775139]|not provided [RCV000627279] Chr9:137762761 [GRCh38]
Chr9:140657213 [GRCh37]
Chr9:9q34.3
pathogenic
NM_024757.5(EHMT1):c.2382+5G>A single nucleotide variant Kleefstra syndrome 1 [RCV000700842] Chr9:137782402 [GRCh38]
Chr9:140676854 [GRCh37]
Chr9:9q34.3
likely benign|uncertain significance
NM_024757.5(EHMT1):c.2713-1G>A single nucleotide variant not provided [RCV000658334] Chr9:137811460 [GRCh38]
Chr9:140705912 [GRCh37]
Chr9:9q34.3
pathogenic
NM_024757.5(EHMT1):c.525A>T (p.Pro175=) single nucleotide variant Inborn genetic diseases [RCV002312803]|Kleefstra syndrome 1 [RCV000953978]|not provided [RCV001731906] Chr9:137717065 [GRCh38]
Chr9:140611517 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.3352C>T (p.Arg1118Cys) single nucleotide variant Inborn genetic diseases [RCV002316113] Chr9:137816040 [GRCh38]
Chr9:140710492 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.3573C>A (p.Phe1191Leu) single nucleotide variant Inborn genetic diseases [RCV002312259] Chr9:137834381 [GRCh38]
Chr9:140728833 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.824-3del deletion Inborn genetic diseases [RCV002312262]|not provided [RCV001613435] Chr9:137743353 [GRCh38]
Chr9:140637805 [GRCh37]
Chr9:9q34.3
benign|likely benign
NM_024757.5(EHMT1):c.463C>G (p.Leu155Val) single nucleotide variant Inborn genetic diseases [RCV002312275]|Kleefstra syndrome 1 [RCV001370329] Chr9:137717003 [GRCh38]
Chr9:140611455 [GRCh37]
Chr9:9q34.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024757.5(EHMT1):c.69C>G (p.Thr23=) single nucleotide variant Inborn genetic diseases [RCV002316827]|Kleefstra syndrome 1 [RCV002533042] Chr9:137711014 [GRCh38]
Chr9:140605466 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.444_445inv (p.Gly149Ser) inversion Kleefstra syndrome 1 [RCV000699307] Chr9:137716984..137716985 [GRCh38]
Chr9:140611436..140611437 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.176A>G (p.Glu59Gly) single nucleotide variant Kleefstra syndrome 1 [RCV000698592] Chr9:137716716 [GRCh38]
Chr9:140611168 [GRCh37]
Chr9:9q34.3
benign|uncertain significance
NM_024757.5(EHMT1):c.369C>T (p.Asn123=) single nucleotide variant Inborn genetic diseases [RCV002316786]|Kleefstra syndrome 1 [RCV001513405]|not provided [RCV000887539] Chr9:137716909 [GRCh38]
Chr9:140611361 [GRCh37]
Chr9:9q34.3
benign|likely benign
NM_024757.5(EHMT1):c.3294G>T (p.Glu1098Asp) single nucleotide variant Kleefstra syndrome 1 [RCV000686063] Chr9:137815982 [GRCh38]
Chr9:140710434 [GRCh37]
Chr9:9q34.3
benign|uncertain significance
GRCh37/hg19 9q34.3(chr9:140447917-141020389)x1 copy number loss not provided [RCV000683132] Chr9:140447917..141020389 [GRCh37]
Chr9:9q34.3
pathogenic
GRCh37/hg19 9q34.3(chr9:140366594-141020389)x1 copy number loss not provided [RCV000683137] Chr9:140366594..141020389 [GRCh37]
Chr9:9q34.3
pathogenic
GRCh37/hg19 9q34.3(chr9:140688612-140781524)x1 copy number loss not provided [RCV000683071] Chr9:140688612..140781524 [GRCh37]
Chr9:9q34.3
likely pathogenic
GRCh37/hg19 9q34.3(chr9:140706816-141020389)x3 copy number gain not provided [RCV000683111] Chr9:140706816..141020389 [GRCh37]
Chr9:9q34.3
uncertain significance
GRCh37/hg19 9q34.3(chr9:140573688-140685407)x3 copy number gain not provided [RCV000683078] Chr9:140573688..140685407 [GRCh37]
Chr9:9q34.3
likely pathogenic
GRCh37/hg19 9q34.13-34.3(chr9:135105971-141020389)x3 copy number gain not provided [RCV000683160] Chr9:135105971..141020389 [GRCh37]
Chr9:9q34.13-34.3
pathogenic
NM_024757.5(EHMT1):c.3355G>A (p.Val1119Ile) single nucleotide variant Inborn genetic diseases [RCV002315989]|Kleefstra syndrome 1 [RCV000687041]|not provided [RCV001255094] Chr9:137816043 [GRCh38]
Chr9:140710495 [GRCh37]
Chr9:9q34.3
benign|likely benign|uncertain significance
NM_024757.5(EHMT1):c.3884C>T (p.Ala1295Val) single nucleotide variant Kleefstra syndrome 1 [RCV000687342] Chr9:137834940 [GRCh38]
Chr9:140729392 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.3818G>A (p.Arg1273His) single nucleotide variant EHMT1-related condition [RCV003392538]|Kleefstra syndrome 1 [RCV001471115] Chr9:137834874 [GRCh38]
Chr9:140729326 [GRCh37]
Chr9:9q34.3
likely benign|uncertain significance
NM_024757.5(EHMT1):c.1265T>G (p.Ile422Ser) single nucleotide variant Kleefstra syndrome 1 [RCV000688656] Chr9:137754187 [GRCh38]
Chr9:140648639 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.2962G>A (p.Ala988Thr) single nucleotide variant Inborn genetic diseases [RCV002533584]|Kleefstra syndrome 1 [RCV000700202] Chr9:137813100 [GRCh38]
Chr9:140707552 [GRCh37]
Chr9:9q34.3
likely benign|uncertain significance
NM_024757.5(EHMT1):c.2864T>C (p.Val955Ala) single nucleotide variant Kleefstra syndrome 1 [RCV000685426] Chr9:137811612 [GRCh38]
Chr9:140706064 [GRCh37]
Chr9:9q34.3
likely benign|uncertain significance
NM_024757.5(EHMT1):c.184G>A (p.Asp62Asn) single nucleotide variant Kleefstra syndrome 1 [RCV000700144]|not provided [RCV001563033] Chr9:137716724 [GRCh38]
Chr9:140611176 [GRCh37]
Chr9:9q34.3
likely benign|uncertain significance
NM_024757.5(EHMT1):c.3046C>T (p.Arg1016Ter) single nucleotide variant Inborn genetic diseases [RCV002547107]|Kleefstra syndrome 1 [RCV000686881]|not provided [RCV001724136] Chr9:137813396 [GRCh38]
Chr9:140707848 [GRCh37]
Chr9:9q34.3
pathogenic
NM_024757.5(EHMT1):c.2712C>T (p.Asn904=) single nucleotide variant Kleefstra syndrome 1 [RCV000686774]|not provided [RCV001552532] Chr9:137800984 [GRCh38]
Chr9:140695436 [GRCh37]
Chr9:9q34.3
likely benign|uncertain significance
NM_024757.5(EHMT1):c.100G>A (p.Ala34Thr) single nucleotide variant Kleefstra syndrome 1 [RCV000701175] Chr9:137716640 [GRCh38]
Chr9:140611092 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.586G>A (p.Ala196Thr) single nucleotide variant Inborn genetic diseases [RCV002544773]|Kleefstra syndrome 1 [RCV000687237] Chr9:137717126 [GRCh38]
Chr9:140611578 [GRCh37]
Chr9:9q34.3
benign|likely benign|uncertain significance
NM_024757.5(EHMT1):c.2096C>T (p.Thr699Met) single nucleotide variant Inborn genetic diseases [RCV002547113]|Kleefstra syndrome 1 [RCV000687391] Chr9:137777959 [GRCh38]
Chr9:140672411 [GRCh37]
Chr9:9q34.3
likely benign|uncertain significance
NM_024757.5(EHMT1):c.3688C>T (p.Arg1230Cys) single nucleotide variant Kleefstra syndrome 1 [RCV000701880] Chr9:137834496 [GRCh38]
Chr9:140728948 [GRCh37]
Chr9:9q34.3
likely benign|uncertain significance
NM_024757.5(EHMT1):c.3148A>G (p.Met1050Val) single nucleotide variant Kleefstra syndrome 1 [RCV000704635] Chr9:137813498 [GRCh38]
Chr9:140707950 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.1414G>A (p.Ala472Thr) single nucleotide variant Kleefstra syndrome 1 [RCV000704689] Chr9:137757924 [GRCh38]
Chr9:140652376 [GRCh37]
Chr9:9q34.3
likely benign|uncertain significance
NM_024757.5(EHMT1):c.1814C>T (p.Pro605Leu) single nucleotide variant Kleefstra syndrome 1 [RCV000688004] Chr9:137776640 [GRCh38]
Chr9:140671092 [GRCh37]
Chr9:9q34.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024757.5(EHMT1):c.526C>G (p.Pro176Ala) single nucleotide variant Kleefstra syndrome 1 [RCV000691122] Chr9:137717066 [GRCh38]
Chr9:140611518 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.3400C>T (p.Arg1134Trp) single nucleotide variant Kleefstra syndrome 1 [RCV000693942] Chr9:137817464 [GRCh38]
Chr9:140711916 [GRCh37]
Chr9:9q34.3
benign|uncertain significance
NC_000009.11:g.(?_140657107)_(140685442_?)dup duplication Kleefstra syndrome 1 [RCV000707929] Chr9:137762655..137790990 [GRCh38]
Chr9:140657107..140685442 [GRCh37]
Chr9:9q34.3
likely pathogenic|uncertain significance
NM_024757.5(EHMT1):c.3801C>T (p.Ser1267=) single nucleotide variant Inborn genetic diseases [RCV002314429] Chr9:137834857 [GRCh38]
Chr9:140729309 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.95T>C (p.Met32Thr) single nucleotide variant Kleefstra syndrome 1 [RCV000689200] Chr9:137716635 [GRCh38]
Chr9:140611087 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.770A>G (p.His257Arg) single nucleotide variant Kleefstra syndrome 1 [RCV000706127] Chr9:137728476 [GRCh38]
Chr9:140622928 [GRCh37]
Chr9:9q34.3
likely benign|uncertain significance
NM_024757.5(EHMT1):c.512C>T (p.Thr171Met) single nucleotide variant Inborn genetic diseases [RCV002547139]|Kleefstra syndrome 1 [RCV000689389] Chr9:137717052 [GRCh38]
Chr9:140611504 [GRCh37]
Chr9:9q34.3
benign|likely benign|uncertain significance
NM_024757.5(EHMT1):c.2948C>A (p.Ser983Tyr) single nucleotide variant Kleefstra syndrome 1 [RCV000686267] Chr9:137813086 [GRCh38]
Chr9:140707538 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.220C>G (p.Gln74Glu) single nucleotide variant Kleefstra syndrome 1 [RCV000698182]|not provided [RCV001786411] Chr9:137716760 [GRCh38]
Chr9:140611212 [GRCh37]
Chr9:9q34.3
benign|likely benign|uncertain significance
NM_024757.5(EHMT1):c.234G>C (p.Arg78Ser) single nucleotide variant Kleefstra syndrome 1 [RCV001511500] Chr9:137716774 [GRCh38]
Chr9:140611226 [GRCh37]
Chr9:9q34.3
benign|uncertain significance
NM_024757.5(EHMT1):c.268C>T (p.Arg90Trp) single nucleotide variant Inborn genetic diseases [RCV002311992]|Kleefstra syndrome 1 [RCV000706568] Chr9:137716808 [GRCh38]
Chr9:140611260 [GRCh37]
Chr9:9q34.3
benign|uncertain significance
NM_024757.5(EHMT1):c.514C>T (p.Pro172Ser) single nucleotide variant Kleefstra syndrome 1 [RCV000697648] Chr9:137717054 [GRCh38]
Chr9:140611506 [GRCh37]
Chr9:9q34.3
likely benign|uncertain significance
NM_024757.5(EHMT1):c.2347G>T (p.Ala783Ser) single nucleotide variant Kleefstra syndrome 1 [RCV000701950] Chr9:137782362 [GRCh38]
Chr9:140676814 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.224A>G (p.Asp75Gly) single nucleotide variant Inborn genetic diseases [RCV002531455]|Kleefstra syndrome 1 [RCV000692965] Chr9:137716764 [GRCh38]
Chr9:140611216 [GRCh37]
Chr9:9q34.3
likely benign|uncertain significance
NM_024757.5(EHMT1):c.755C>G (p.Pro252Arg) single nucleotide variant Kleefstra syndrome 1 [RCV000695118]|not provided [RCV003322810] Chr9:137728461 [GRCh38]
Chr9:140622913 [GRCh37]
Chr9:9q34.3
likely benign|uncertain significance
NM_024757.5(EHMT1):c.92C>T (p.Pro31Leu) single nucleotide variant Inborn genetic diseases [RCV002533720]|Kleefstra syndrome 1 [RCV000704822]|not provided [RCV001092467] Chr9:137716632 [GRCh38]
Chr9:140611084 [GRCh37]
Chr9:9q34.3
benign|likely benign|uncertain significance
NM_024757.5(EHMT1):c.1456_1457delinsAA (p.Ser486Asn) indel Kleefstra syndrome 1 [RCV000690657]|not provided [RCV002251512] Chr9:137757966..137757967 [GRCh38]
Chr9:140652418..140652419 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.3374+3G>A single nucleotide variant Kleefstra syndrome 1 [RCV000704932] Chr9:137816065 [GRCh38]
Chr9:140710517 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.13_21+153del deletion Kleefstra syndrome 1 [RCV000695795] Chr9:137619032..137619193 [GRCh38]
Chr9:140513484..140513645 [GRCh37]
Chr9:9q34.3
likely pathogenic
NM_024757.5(EHMT1):c.193_198dup (p.Ser65_His66dup) duplication Inborn genetic diseases [RCV002406600]|Kleefstra syndrome 1 [RCV000696349] Chr9:137716732..137716733 [GRCh38]
Chr9:140611184..140611185 [GRCh37]
Chr9:9q34.3
likely benign|uncertain significance
NM_024757.5(EHMT1):c.1222G>C (p.Glu408Gln) single nucleotide variant Kleefstra syndrome 1 [RCV000691599] Chr9:137752382 [GRCh38]
Chr9:140646834 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.3732G>C (p.Glu1244Asp) single nucleotide variant Kleefstra syndrome 1 [RCV000696569] Chr9:137834788 [GRCh38]
Chr9:140729240 [GRCh37]
Chr9:9q34.3
likely benign|uncertain significance
NC_000009.11:g.(?_140695312)_(140729425_?)dup duplication Kleefstra syndrome 1 [RCV000708320] Chr9:137800860..137834973 [GRCh38]
Chr9:140695312..140729425 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.3883G>T (p.Ala1295Ser) single nucleotide variant Kleefstra syndrome 1 [RCV000689124] Chr9:137834939 [GRCh38]
Chr9:140729391 [GRCh37]
Chr9:9q34.3
likely benign|uncertain significance
NM_024757.5(EHMT1):c.239A>T (p.Asn80Ile) single nucleotide variant Inborn genetic diseases [RCV002313636]|not provided [RCV003128690] Chr9:137716779 [GRCh38]
Chr9:140611231 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.2115G>A (p.Gly705=) single nucleotide variant Inborn genetic diseases [RCV002316105] Chr9:137777978 [GRCh38]
Chr9:140672430 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.3843C>T (p.Ala1281=) single nucleotide variant Inborn genetic diseases [RCV002313660] Chr9:137834899 [GRCh38]
Chr9:140729351 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.713A>G (p.Asn238Ser) single nucleotide variant Inborn genetic diseases [RCV002315375]|Kleefstra syndrome 1 [RCV001235761] Chr9:137728419 [GRCh38]
Chr9:140622871 [GRCh37]
Chr9:9q34.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024757.5(EHMT1):c.1231G>A (p.Gly411Ser) single nucleotide variant Inborn genetic diseases [RCV002315463]|Kleefstra syndrome 1 [RCV001445722] Chr9:137752391 [GRCh38]
Chr9:140646843 [GRCh37]
Chr9:9q34.3
likely benign|uncertain significance
NM_024757.5(EHMT1):c.3583G>A (p.Val1195Ile) single nucleotide variant Inborn genetic diseases [RCV002318035]|Kleefstra syndrome 1 [RCV001224803] Chr9:137834391 [GRCh38]
Chr9:140728843 [GRCh37]
Chr9:9q34.3
likely benign|uncertain significance
NM_024757.5(EHMT1):c.2025C>T (p.Ala675=) single nucleotide variant Inborn genetic diseases [RCV002315490]|Kleefstra syndrome 1 [RCV001416577]|not provided [RCV001592920] Chr9:137777888 [GRCh38]
Chr9:140672340 [GRCh37]
Chr9:9q34.3
likely benign
GRCh37/hg19 9q34.3(chr9:140370160-140521158)x1 copy number loss not provided [RCV000753258] Chr9:140370160..140521158 [GRCh37]
Chr9:9q34.3
benign
GRCh37/hg19 9q34.3(chr9:140607136-140621749)x3 copy number gain not provided [RCV000753259] Chr9:140607136..140621749 [GRCh37]
Chr9:9q34.3
benign
NM_024757.5(EHMT1):c.2184C>T (p.Asp728=) single nucleotide variant Inborn genetic diseases [RCV002318648]|Kleefstra syndrome 1 [RCV001454779] Chr9:137778047 [GRCh38]
Chr9:140672499 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.1444G>A (p.Val482Ile) single nucleotide variant Inborn genetic diseases [RCV002318708] Chr9:137757954 [GRCh38]
Chr9:140652406 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.608C>T (p.Ala203Val) single nucleotide variant Inborn genetic diseases [RCV002318735] Chr9:137717148 [GRCh38]
Chr9:140611600 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.1335G>A (p.Arg445=) single nucleotide variant Inborn genetic diseases [RCV002318794] Chr9:137754257 [GRCh38]
Chr9:140648709 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.933G>A (p.Thr311=) single nucleotide variant Inborn genetic diseases [RCV002315344]|Kleefstra syndrome 1 [RCV000870798] Chr9:137743480 [GRCh38]
Chr9:140637932 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.2493G>C (p.Leu831=) single nucleotide variant Inborn genetic diseases [RCV002318699]|Kleefstra syndrome 1 [RCV000918424] Chr9:137790958 [GRCh38]
Chr9:140685410 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.2026G>A (p.Gly676Arg) single nucleotide variant Kleefstra syndrome 1 [RCV000793881]|not specified [RCV000736114] Chr9:137777889 [GRCh38]
Chr9:140672341 [GRCh37]
Chr9:9q34.3
benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141122247)x3 copy number gain not provided [RCV000748055] Chr9:10590..141122247 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9q34.3(chr9:137816459-141114095)x1 copy number loss not provided [RCV000748787] Chr9:137816459..141114095 [GRCh37]
Chr9:9q34.3
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141107672)x3 copy number gain not provided [RCV000748053] Chr9:10590..141107672 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:46587-141066491)x3 copy number gain not provided [RCV000748063] Chr9:46587..141066491 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141114095)x2 copy number gain not provided [RCV000748054] Chr9:10590..141114095 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
NM_024757.5(EHMT1):c.3180+106A>G single nucleotide variant not provided [RCV001541319] Chr9:137813636 [GRCh38]
Chr9:140708088 [GRCh37]
Chr9:9q34.3
benign
NM_024757.5(EHMT1):c.3181-21C>T single nucleotide variant not provided [RCV001689523] Chr9:137814410 [GRCh38]
Chr9:140708862 [GRCh37]
Chr9:9q34.3
benign
NM_024757.5(EHMT1):c.85+35G>A single nucleotide variant not provided [RCV001648391] Chr9:137711065 [GRCh38]
Chr9:140605517 [GRCh37]
Chr9:9q34.3
benign
NM_024757.5(EHMT1):c.3036-10T>C single nucleotide variant not provided [RCV000938685] Chr9:137813376 [GRCh38]
Chr9:140707828 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.2713-174C>T single nucleotide variant not provided [RCV001534638] Chr9:137811287 [GRCh38]
Chr9:140705739 [GRCh37]
Chr9:9q34.3
benign
NM_024757.5(EHMT1):c.3003C>T (p.Asp1001=) single nucleotide variant Kleefstra syndrome 1 [RCV001458750] Chr9:137813141 [GRCh38]
Chr9:140707593 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.2018+303G>A single nucleotide variant not provided [RCV001534852] Chr9:137777147 [GRCh38]
Chr9:140671599 [GRCh37]
Chr9:9q34.3
benign
NM_024757.5(EHMT1):c.3716+25C>A single nucleotide variant not provided [RCV001612821] Chr9:137834549 [GRCh38]
Chr9:140729001 [GRCh37]
Chr9:9q34.3
benign
NM_024757.5(EHMT1):c.1171-145C>T single nucleotide variant not provided [RCV001586409] Chr9:137752186 [GRCh38]
Chr9:140646638 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.22-23C>T single nucleotide variant not provided [RCV001567526] Chr9:137710944 [GRCh38]
Chr9:140605396 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.630C>T (p.Ser210=) single nucleotide variant Inborn genetic diseases [RCV002363370]|Kleefstra syndrome 1 [RCV000917810] Chr9:137717170 [GRCh38]
Chr9:140611622 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.3012_3016del (p.Pro1005fs) deletion Kleefstra syndrome 1 [RCV001706796] Chr9:137813149..137813153 [GRCh38]
Chr9:140707601..140707605 [GRCh37]
Chr9:9q34.3
pathogenic
NM_024757.5(EHMT1):c.575_581del (p.Pro192fs) deletion Kleefstra syndrome 1 [RCV001706855] Chr9:137717113..137717119 [GRCh38]
Chr9:140611565..140611571 [GRCh37]
Chr9:9q34.3
pathogenic
NM_024757.5(EHMT1):c.1420G>T (p.Gly474Ter) single nucleotide variant not provided [RCV000760864] Chr9:137757930 [GRCh38]
Chr9:140652382 [GRCh37]
Chr9:9q34.3
pathogenic
NM_024757.5(EHMT1):c.1249-2A>G single nucleotide variant Kleefstra syndrome 1 [RCV000760187] Chr9:137754169 [GRCh38]
Chr9:140648621 [GRCh37]
Chr9:9q34.3
likely pathogenic
NM_024757.5(EHMT1):c.1495del (p.Ala499fs) deletion Kleefstra syndrome 1 [RCV000760267] Chr9:137758005 [GRCh38]
Chr9:140652457 [GRCh37]
Chr9:9q34.3
pathogenic
NM_024757.5(EHMT1):c.3173A>T (p.His1058Leu) single nucleotide variant Kleefstra syndrome 1 [RCV000760286] Chr9:137813523 [GRCh38]
Chr9:140707975 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.103G>A (p.Asp35Asn) single nucleotide variant Kleefstra syndrome 1 [RCV002533916]|not provided [RCV000762601] Chr9:137716643 [GRCh38]
Chr9:140611095 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.3110A>G (p.Asn1037Ser) single nucleotide variant Inborn genetic diseases [RCV003268149] Chr9:137813460 [GRCh38]
Chr9:140707912 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.389_397del (p.Pro130_Leu132del) deletion Kleefstra syndrome 1 [RCV000988313] Chr9:137716928..137716936 [GRCh38]
Chr9:140611380..140611388 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.3252C>G (p.Tyr1084Ter) single nucleotide variant Kleefstra syndrome 1 [RCV000988317] Chr9:137814502 [GRCh38]
Chr9:140708954 [GRCh37]
Chr9:9q34.3
likely pathogenic
NM_024757.5(EHMT1):c.1171-116C>T single nucleotide variant not provided [RCV001641033] Chr9:137752215 [GRCh38]
Chr9:140646667 [GRCh37]
Chr9:9q34.3
benign
NM_024757.5(EHMT1):c.494C>T (p.Pro165Leu) single nucleotide variant not provided [RCV001546078] Chr9:137717034 [GRCh38]
Chr9:140611486 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.2506-229G>C single nucleotide variant not provided [RCV001611596] Chr9:137798584 [GRCh38]
Chr9:140693036 [GRCh37]
Chr9:9q34.3
benign
NM_024757.5(EHMT1):c.2712+30G>A single nucleotide variant not provided [RCV001611689] Chr9:137801014 [GRCh38]
Chr9:140695466 [GRCh37]
Chr9:9q34.3
benign
NM_024757.5(EHMT1):c.2019-17G>A single nucleotide variant Kleefstra syndrome 1 [RCV002072170]|not provided [RCV001565987] Chr9:137777865 [GRCh38]
Chr9:140672317 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.22-45G>A single nucleotide variant not provided [RCV001566355] Chr9:137710922 [GRCh38]
Chr9:140605374 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.642+22C>G single nucleotide variant not provided [RCV001644213] Chr9:137717204 [GRCh38]
Chr9:140611656 [GRCh37]
Chr9:9q34.3
benign|likely benign
NM_024757.5(EHMT1):c.3717-24G>T single nucleotide variant not provided [RCV001575325] Chr9:137834749 [GRCh38]
Chr9:140729201 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.2867+60G>A single nucleotide variant not provided [RCV001643662] Chr9:137811675 [GRCh38]
Chr9:140706127 [GRCh37]
Chr9:9q34.3
benign
NM_024757.5(EHMT1):c.3716+15G>A single nucleotide variant Kleefstra syndrome 1 [RCV002073039]|not provided [RCV001665115] Chr9:137834539 [GRCh38]
Chr9:140728991 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.2103T>G (p.Pro701=) single nucleotide variant Kleefstra syndrome 1 [RCV001450757] Chr9:137777966 [GRCh38]
Chr9:140672418 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.300C>T (p.Asp100=) single nucleotide variant not provided [RCV000923038] Chr9:137716840 [GRCh38]
Chr9:140611292 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.3042C>T (p.Ile1014=) single nucleotide variant Inborn genetic diseases [RCV002444991]|Kleefstra syndrome 1 [RCV000897598]|not provided [RCV001585862] Chr9:137813392 [GRCh38]
Chr9:140707844 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.408C>G (p.Pro136=) single nucleotide variant Kleefstra syndrome 1 [RCV001493114] Chr9:137716948 [GRCh38]
Chr9:140611400 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.3426C>T (p.Ser1142=) single nucleotide variant not provided [RCV000883888] Chr9:137817490 [GRCh38]
Chr9:140711942 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.3180+9C>T single nucleotide variant Kleefstra syndrome 1 [RCV000946200] Chr9:137813539 [GRCh38]
Chr9:140707991 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.3624G>T (p.Val1208=) single nucleotide variant Kleefstra syndrome 1 [RCV000921315] Chr9:137834432 [GRCh38]
Chr9:140728884 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.85+8C>T single nucleotide variant Kleefstra syndrome 1 [RCV000975949] Chr9:137711038 [GRCh38]
Chr9:140605490 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.2712+8C>T single nucleotide variant Kleefstra syndrome 1 [RCV001395310] Chr9:137800992 [GRCh38]
Chr9:140695444 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.2601C>T (p.Asn867=) single nucleotide variant Kleefstra syndrome 1 [RCV001485766] Chr9:137798908 [GRCh38]
Chr9:140693360 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.159G>A (p.Glu53=) single nucleotide variant Kleefstra syndrome 1 [RCV001504218] Chr9:137716699 [GRCh38]
Chr9:140611151 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.1380G>A (p.Ser460=) single nucleotide variant Inborn genetic diseases [RCV002382017]|Kleefstra syndrome 1 [RCV000878094] Chr9:137757890 [GRCh38]
Chr9:140652342 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.3399G>A (p.Thr1133=) single nucleotide variant Kleefstra syndrome 1 [RCV001456005] Chr9:137817463 [GRCh38]
Chr9:140711915 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.1602A>G (p.Thr534=) single nucleotide variant Kleefstra syndrome 1 [RCV000983433] Chr9:137762775 [GRCh38]
Chr9:140657227 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.1668C>T (p.Ser556=) single nucleotide variant Kleefstra syndrome 1 [RCV000928962] Chr9:137775129 [GRCh38]
Chr9:140669581 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.2945A>G (p.Asn982Ser) single nucleotide variant Kleefstra syndrome 1 [RCV000946190]|not provided [RCV001664560] Chr9:137813083 [GRCh38]
Chr9:140707535 [GRCh37]
Chr9:9q34.3
benign|likely benign
NM_024757.5(EHMT1):c.1647+8C>T single nucleotide variant Kleefstra syndrome 1 [RCV000927034] Chr9:137762828 [GRCh38]
Chr9:140657280 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.2572C>T (p.Leu858=) single nucleotide variant Kleefstra syndrome 1 [RCV001449264] Chr9:137798879 [GRCh38]
Chr9:140693331 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.3588C>T (p.Ser1196=) single nucleotide variant Kleefstra syndrome 1 [RCV001433223] Chr9:137834396 [GRCh38]
Chr9:140728848 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.672T>C (p.Val224=) single nucleotide variant Kleefstra syndrome 1 [RCV002540198]|not specified [RCV001818743] Chr9:137728378 [GRCh38]
Chr9:140622830 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.3495C>T (p.Ala1165=) single nucleotide variant Inborn genetic diseases [RCV002454179]|Kleefstra syndrome 1 [RCV000949147]|not provided [RCV001570089] Chr9:137818093 [GRCh38]
Chr9:140712545 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.2313G>A (p.Gln771=) single nucleotide variant not provided [RCV000929407] Chr9:137782328 [GRCh38]
Chr9:140676780 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.3242G>A (p.Arg1081His) single nucleotide variant Kleefstra syndrome 1 [RCV001056420] Chr9:137814492 [GRCh38]
Chr9:140708944 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.3719T>A (p.Phe1240Tyr) single nucleotide variant Kleefstra syndrome 1 [RCV001034017] Chr9:137834775 [GRCh38]
Chr9:140729227 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.596A>G (p.Lys199Arg) single nucleotide variant Kleefstra syndrome 1 [RCV001034184] Chr9:137717136 [GRCh38]
Chr9:140611588 [GRCh37]
Chr9:9q34.3
benign
NM_024757.5(EHMT1):c.466C>T (p.Pro156Ser) single nucleotide variant Kleefstra syndrome 1 [RCV001034305] Chr9:137717006 [GRCh38]
Chr9:140611458 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.642+5T>G single nucleotide variant Kleefstra syndrome 1 [RCV001034313] Chr9:137717187 [GRCh38]
Chr9:140611639 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.1394C>T (p.Ala465Val) single nucleotide variant Kleefstra syndrome 1 [RCV001034897]|not provided [RCV001549512] Chr9:137757904 [GRCh38]
Chr9:140652356 [GRCh37]
Chr9:9q34.3
benign|likely benign|uncertain significance
NM_024757.5(EHMT1):c.548G>C (p.Ser183Thr) single nucleotide variant Kleefstra syndrome 1 [RCV001035527] Chr9:137717088 [GRCh38]
Chr9:140611540 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.40dup (p.Glu14fs) duplication Kleefstra syndrome 1 [RCV001057592]|not provided [RCV001664649] Chr9:137710979..137710980 [GRCh38]
Chr9:140605431..140605432 [GRCh37]
Chr9:9q34.3
pathogenic
NM_024757.5(EHMT1):c.335A>T (p.Asp112Val) single nucleotide variant Kleefstra syndrome 1 [RCV001063292] Chr9:137716875 [GRCh38]
Chr9:140611327 [GRCh37]
Chr9:9q34.3
likely benign|uncertain significance
NM_024757.5(EHMT1):c.3443del (p.Pro1148fs) deletion Kleefstra syndrome 1 [RCV000856775] Chr9:137817506 [GRCh38]
Chr9:140711958 [GRCh37]
Chr9:9q34.3
pathogenic
NM_024757.5(EHMT1):c.1344T>A (p.Ser448Arg) single nucleotide variant Kleefstra syndrome 1 [RCV001062429] Chr9:137754266 [GRCh38]
Chr9:140648718 [GRCh37]
Chr9:9q34.3
likely benign|uncertain significance
NM_024757.5(EHMT1):c.3193A>G (p.Ile1065Val) single nucleotide variant Inborn genetic diseases [RCV003243458]|Kleefstra syndrome 1 [RCV001063916] Chr9:137814443 [GRCh38]
Chr9:140708895 [GRCh37]
Chr9:9q34.3
benign|uncertain significance
NM_024757.5(EHMT1):c.361G>A (p.Gly121Ser) single nucleotide variant Kleefstra syndrome 1 [RCV001068971]|not provided [RCV002225792] Chr9:137716901 [GRCh38]
Chr9:140611353 [GRCh37]
Chr9:9q34.3
likely benign|uncertain significance
NM_024757.5(EHMT1):c.2975G>A (p.Ser992Asn) single nucleotide variant Kleefstra syndrome 1 [RCV001070005] Chr9:137813113 [GRCh38]
Chr9:140707565 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.2579C>T (p.Ser860Leu) single nucleotide variant Kleefstra syndrome 1 [RCV001070493] Chr9:137798886 [GRCh38]
Chr9:140693338 [GRCh37]
Chr9:9q34.3
likely benign|uncertain significance
NM_024757.5(EHMT1):c.2797C>T (p.His933Tyr) single nucleotide variant Kleefstra syndrome 1 [RCV001070502]|not provided [RCV001560468] Chr9:137811545 [GRCh38]
Chr9:140705997 [GRCh37]
Chr9:9q34.3
likely benign|uncertain significance
NM_024757.5(EHMT1):c.3892C>G (p.Leu1298Val) single nucleotide variant Kleefstra syndrome 1 [RCV001049496] Chr9:137834948 [GRCh38]
Chr9:140729400 [GRCh37]
Chr9:9q34.3
benign|uncertain significance
NC_000009.12:g.(?_137139467)_(137834973_?)del deletion Kleefstra syndrome 1 [RCV001031572] Chr9:140033919..140729425 [GRCh37]
Chr9:9q34.3
pathogenic
NM_024757.5(EHMT1):c.1590_1607dup (p.Glu531_Ala536dup) duplication Inborn genetic diseases [RCV002400282]|Kleefstra syndrome 1 [RCV001050048] Chr9:137762762..137762763 [GRCh38]
Chr9:140657214..140657215 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.3609C>T (p.Cys1203=) single nucleotide variant Kleefstra syndrome 1 [RCV001057595] Chr9:137834417 [GRCh38]
Chr9:140728869 [GRCh37]
Chr9:9q34.3
likely benign|uncertain significance
NM_024757.5(EHMT1):c.2320C>A (p.Arg774Ser) single nucleotide variant Kleefstra syndrome 1 [RCV001057608] Chr9:137782335 [GRCh38]
Chr9:140676787 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.1248+1G>A single nucleotide variant not provided [RCV000782015] Chr9:137752409 [GRCh38]
Chr9:140646861 [GRCh37]
Chr9:9q34.3
uncertain significance
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3 copy number gain not provided [RCV000845900] Chr9:203861..141020388 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
NM_024757.5(EHMT1):c.290C>T (p.Ser97Leu) single nucleotide variant Kleefstra syndrome 1 [RCV000809600]|not provided [RCV001843551] Chr9:137716830 [GRCh38]
Chr9:140611282 [GRCh37]
Chr9:9q34.3
likely benign|uncertain significance
NM_024757.5(EHMT1):c.737G>C (p.Arg246Pro) single nucleotide variant Kleefstra syndrome 1 [RCV000806020] Chr9:137728443 [GRCh38]
Chr9:140622895 [GRCh37]
Chr9:9q34.3
uncertain significance
NC_000009.11:g.(?_140605399)_(140652483_?)dup duplication Kleefstra syndrome 1 [RCV000819888] Chr9:137710947..137758031 [GRCh38]
Chr9:140605399..140652483 [GRCh37]
Chr9:9q34.3
pathogenic|likely pathogenic
NM_024757.5(EHMT1):c.982-9G>A single nucleotide variant Kleefstra syndrome 1 [RCV001513822] Chr9:137743893 [GRCh38]
Chr9:140638345 [GRCh37]
Chr9:9q34.3
benign
NM_024757.5(EHMT1):c.1359C>T (p.Ser453=) single nucleotide variant Inborn genetic diseases [RCV002382022]|Kleefstra syndrome 1 [RCV000879401]|not provided [RCV001541623] Chr9:137754281 [GRCh38]
Chr9:140648733 [GRCh37]
Chr9:9q34.3
benign|likely benign
NM_024757.5(EHMT1):c.824-4T>C single nucleotide variant Kleefstra syndrome 1 [RCV000903958]|not provided [RCV001585864] Chr9:137743367 [GRCh38]
Chr9:140637819 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.3021G>A (p.Glu1007=) single nucleotide variant Kleefstra syndrome 1 [RCV000941354] Chr9:137813159 [GRCh38]
Chr9:140707611 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.2046C>T (p.Asp682=) single nucleotide variant Kleefstra syndrome 1 [RCV002544462] Chr9:137777909 [GRCh38]
Chr9:140672361 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.2166C>T (p.Ser722=) single nucleotide variant Kleefstra syndrome 1 [RCV000933004] Chr9:137778029 [GRCh38]
Chr9:140672481 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.1959A>T (p.Pro653=) single nucleotide variant Kleefstra syndrome 1 [RCV001501419] Chr9:137776785 [GRCh38]
Chr9:140671237 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.237C>G (p.Val79=) single nucleotide variant Kleefstra syndrome 1 [RCV001396216] Chr9:137716777 [GRCh38]
Chr9:140611229 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.3375-8T>A single nucleotide variant Kleefstra syndrome 1 [RCV000931032]|not provided [RCV001560033] Chr9:137817431 [GRCh38]
Chr9:140711883 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.2827C>T (p.Leu943=) single nucleotide variant not provided [RCV000940296] Chr9:137811575 [GRCh38]
Chr9:140706027 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.2766C>T (p.Ala922=) single nucleotide variant Kleefstra syndrome 1 [RCV001458751] Chr9:137811514 [GRCh38]
Chr9:140705966 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.3252C>T (p.Tyr1084=) single nucleotide variant Kleefstra syndrome 1 [RCV000893465]|not provided [RCV001557257] Chr9:137814502 [GRCh38]
Chr9:140708954 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.3498C>T (p.Asp1166=) single nucleotide variant Kleefstra syndrome 1 [RCV000914749] Chr9:137818096 [GRCh38]
Chr9:140712548 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.1332G>A (p.Arg444=) single nucleotide variant Kleefstra syndrome 1 [RCV000855750] Chr9:137754254 [GRCh38]
Chr9:140648706 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.85+7G>A single nucleotide variant Kleefstra syndrome 1 [RCV001460435] Chr9:137711037 [GRCh38]
Chr9:140605489 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.255C>G (p.Thr85=) single nucleotide variant Kleefstra syndrome 1 [RCV001401130] Chr9:137716795 [GRCh38]
Chr9:140611247 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.2802C>T (p.Ala934=) single nucleotide variant Kleefstra syndrome 1 [RCV001398951] Chr9:137811550 [GRCh38]
Chr9:140706002 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.308C>T (p.Ala103Val) single nucleotide variant Kleefstra syndrome 1 [RCV002066186] Chr9:137716848 [GRCh38]
Chr9:140611300 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.2556C>T (p.Tyr852=) single nucleotide variant Kleefstra syndrome 1 [RCV001398846]|not provided [RCV000916709] Chr9:137798863 [GRCh38]
Chr9:140693315 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.1473C>A (p.Val491=) single nucleotide variant Kleefstra syndrome 1 [RCV001485268] Chr9:137757983 [GRCh38]
Chr9:140652435 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.198T>C (p.His66=) single nucleotide variant Kleefstra syndrome 1 [RCV001453414] Chr9:137716738 [GRCh38]
Chr9:140611190 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.1296G>A (p.Lys432=) single nucleotide variant not provided [RCV000895501] Chr9:137754218 [GRCh38]
Chr9:140648670 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.585C>T (p.Gly195=) single nucleotide variant Kleefstra syndrome 1 [RCV000964676] Chr9:137717125 [GRCh38]
Chr9:140611577 [GRCh37]
Chr9:9q34.3
benign
NM_024757.5(EHMT1):c.3120C>T (p.Tyr1040=) single nucleotide variant Kleefstra syndrome 1 [RCV000920265] Chr9:137813470 [GRCh38]
Chr9:140707922 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.21+202G>A single nucleotide variant not provided [RCV002284667] Chr9:137619251 [GRCh38]
Chr9:140513703 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.1117G>A (p.Glu373Lys) single nucleotide variant not provided [RCV000827713] Chr9:137744037 [GRCh38]
Chr9:140638489 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.1412C>T (p.Thr471Met) single nucleotide variant Inborn genetic diseases [RCV003362971]|Kleefstra syndrome 1 [RCV000813644]|not provided [RCV001558523] Chr9:137757922 [GRCh38]
Chr9:140652374 [GRCh37]
Chr9:9q34.3
benign|likely benign|uncertain significance
NM_024757.5(EHMT1):c.1661C>A (p.Thr554Lys) single nucleotide variant Kleefstra syndrome 1 [RCV000809861]|not provided [RCV001759561] Chr9:137775122 [GRCh38]
Chr9:140669574 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.3011G>T (p.Ser1004Ile) single nucleotide variant Kleefstra syndrome 1 [RCV000822624] Chr9:137813149 [GRCh38]
Chr9:140707601 [GRCh37]
Chr9:9q34.3
benign|uncertain significance
NM_024757.5(EHMT1):c.3486C>T (p.Asp1162=) single nucleotide variant Kleefstra syndrome 1 [RCV001493531] Chr9:137818084 [GRCh38]
Chr9:140712536 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.1613A>G (p.Asn538Ser) single nucleotide variant Kleefstra syndrome 1 [RCV000814475] Chr9:137762786 [GRCh38]
Chr9:140657238 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.519C>T (p.Ala173=) single nucleotide variant Kleefstra syndrome 1 [RCV000915148] Chr9:137717059 [GRCh38]
Chr9:140611511 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.205G>A (p.Ala69Thr) single nucleotide variant Kleefstra syndrome 1 [RCV001520926] Chr9:137716745 [GRCh38]
Chr9:140611197 [GRCh37]
Chr9:9q34.3
benign
NM_024757.5(EHMT1):c.349A>G (p.Thr117Ala) single nucleotide variant Kleefstra syndrome 1 [RCV000814250] Chr9:137716889 [GRCh38]
Chr9:140611341 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.149C>T (p.Ala50Val) single nucleotide variant Inborn genetic diseases [RCV002390668]|Kleefstra syndrome 1 [RCV000817768]|not provided [RCV001534159] Chr9:137716689 [GRCh38]
Chr9:140611141 [GRCh37]
Chr9:9q34.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024757.5(EHMT1):c.2208C>T (p.Arg736=) single nucleotide variant Kleefstra syndrome 1 [RCV001480974] Chr9:137779650 [GRCh38]
Chr9:140674102 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.2790C>T (p.Cys930=) single nucleotide variant Kleefstra syndrome 1 [RCV001439472] Chr9:137811538 [GRCh38]
Chr9:140705990 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.2015G>A (p.Gly672Asp) single nucleotide variant Kleefstra syndrome 1 [RCV000807512] Chr9:137776841 [GRCh38]
Chr9:140671293 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.1583A>G (p.Lys528Arg) single nucleotide variant Kleefstra syndrome 1 [RCV000808090] Chr9:137762756 [GRCh38]
Chr9:140657208 [GRCh37]
Chr9:9q34.3
benign|uncertain significance
NC_000009.11:g.(?_140728781)_(140729425_?)dup duplication Kleefstra syndrome 1 [RCV000821938] Chr9:137834329..137834973 [GRCh38]
Chr9:140728781..140729425 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.3392A>G (p.Tyr1131Cys) single nucleotide variant Kleefstra syndrome 1 [RCV000800015] Chr9:137817456 [GRCh38]
Chr9:140711908 [GRCh37]
Chr9:9q34.3
likely benign|uncertain significance
NM_024757.5(EHMT1):c.3833CCCAGGAGG[3] (p.1278AQE[3]) microsatellite Kleefstra syndrome 1 [RCV000803528] Chr9:137834886..137834887 [GRCh38]
Chr9:140729338..140729339 [GRCh37]
Chr9:9q34.3
likely benign|uncertain significance
NM_024757.5(EHMT1):c.2566C>T (p.Gln856Ter) single nucleotide variant Kleefstra syndrome 1 [RCV000825019] Chr9:137798873 [GRCh38]
Chr9:140693325 [GRCh37]
Chr9:9q34.3
pathogenic
NM_024757.5(EHMT1):c.3253G>A (p.Asp1085Asn) single nucleotide variant Kleefstra syndrome 1 [RCV000814796] Chr9:137814503 [GRCh38]
Chr9:140708955 [GRCh37]
Chr9:9q34.3
likely benign|uncertain significance
GRCh37/hg19 9q34.3(chr9:140391637-140964215)x3 copy number gain not provided [RCV000999306] Chr9:140391637..140964215 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.2976del (p.Ser992fs) deletion Kleefstra syndrome 1 [RCV000988316] Chr9:137813114 [GRCh38]
Chr9:140707566 [GRCh37]
Chr9:9q34.3
pathogenic
NM_024757.5(EHMT1):c.3709C>T (p.Gln1237Ter) single nucleotide variant Kleefstra syndrome 1 [RCV000988318] Chr9:137834517 [GRCh38]
Chr9:140728969 [GRCh37]
Chr9:9q34.3
pathogenic
NM_024757.5(EHMT1):c.3226G>A (p.Gly1076Ser) single nucleotide variant Inborn genetic diseases [RCV002442632]|Kleefstra syndrome 1 [RCV000795151]|not provided [RCV001637991] Chr9:137814476 [GRCh38]
Chr9:140708928 [GRCh37]
Chr9:9q34.3
benign|likely benign|uncertain significance
NM_024757.5(EHMT1):c.3417C>T (p.Gly1139=) single nucleotide variant Kleefstra syndrome 1 [RCV000800376]|not provided [RCV001311049] Chr9:137817481 [GRCh38]
Chr9:140711933 [GRCh37]
Chr9:9q34.3
benign|likely benign|uncertain significance
NM_024757.5(EHMT1):c.1100C>T (p.Ala367Val) single nucleotide variant Kleefstra syndrome 1 [RCV000809075]|not provided [RCV001552527] Chr9:137744020 [GRCh38]
Chr9:140638472 [GRCh37]
Chr9:9q34.3
likely benign|uncertain significance
NM_024757.5(EHMT1):c.3082G>A (p.Ala1028Thr) single nucleotide variant Kleefstra syndrome 1 [RCV000796653]|not provided [RCV001585719] Chr9:137813432 [GRCh38]
Chr9:140707884 [GRCh37]
Chr9:9q34.3
likely benign|uncertain significance
NM_024757.5(EHMT1):c.3791G>A (p.Arg1264Gln) single nucleotide variant Kleefstra syndrome 1 [RCV000799129] Chr9:137834847 [GRCh38]
Chr9:140729299 [GRCh37]
Chr9:9q34.3
likely benign|uncertain significance
NM_024757.5(EHMT1):c.2779G>A (p.Ala927Thr) single nucleotide variant Kleefstra syndrome 1 [RCV000809559] Chr9:137811527 [GRCh38]
Chr9:140705979 [GRCh37]
Chr9:9q34.3
likely benign|uncertain significance
NM_024757.5(EHMT1):c.154G>A (p.Gly52Ser) single nucleotide variant Kleefstra syndrome 1 [RCV000799826] Chr9:137716694 [GRCh38]
Chr9:140611146 [GRCh37]
Chr9:9q34.3
likely benign|uncertain significance
NM_024757.5(EHMT1):c.3375G>C (p.Arg1125Ser) single nucleotide variant Inborn genetic diseases [RCV002537472]|Kleefstra syndrome 1 [RCV000820474]|not provided [RCV001528830] Chr9:137817439 [GRCh38]
Chr9:140711891 [GRCh37]
Chr9:9q34.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024757.5(EHMT1):c.1089_1090inv (p.Ala364Thr) inversion Kleefstra syndrome 1 [RCV000817479] Chr9:137744009..137744010 [GRCh38]
Chr9:140638461..140638462 [GRCh37]
Chr9:9q34.3
benign|uncertain significance
NC_000009.12:g.137604238_138131469dup duplication 9q34 microduplication syndrome [RCV000851534] Chr9:137604238..138131469 [GRCh38]
Chr9:140498690..141025921 [GRCh37]
Chr9:9q34.3
pathogenic
NM_024757.5(EHMT1):c.538G>T (p.Gly180Trp) single nucleotide variant Kleefstra syndrome 1 [RCV000817730]|not provided [RCV001766725] Chr9:137717078 [GRCh38]
Chr9:140611530 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.3186C>T (p.Cys1062=) single nucleotide variant Inborn genetic diseases [RCV002325609]|Kleefstra syndrome 1 [RCV000817731]|not provided [RCV001548715] Chr9:137814436 [GRCh38]
Chr9:140708888 [GRCh37]
Chr9:9q34.3
benign|likely benign|uncertain significance
NM_024757.5(EHMT1):c.500C>A (p.Ala167Asp) single nucleotide variant Inborn genetic diseases [RCV003372879]|Kleefstra syndrome 1 [RCV000817869] Chr9:137717040 [GRCh38]
Chr9:140611492 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.37G>A (p.Gly13Arg) single nucleotide variant Kleefstra syndrome 1 [RCV000802227] Chr9:137710982 [GRCh38]
Chr9:140605434 [GRCh37]
Chr9:9q34.3
uncertain significance
GRCh37/hg19 9q34.3(chr9:140064816-140759229)x3 copy number gain not provided [RCV000847406] Chr9:140064816..140759229 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.3562G>A (p.Asp1188Asn) single nucleotide variant Kleefstra syndrome 1 [RCV000794195] Chr9:137834370 [GRCh38]
Chr9:140728822 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.835T>G (p.Phe279Val) single nucleotide variant not provided [RCV000999300] Chr9:137743382 [GRCh38]
Chr9:140637834 [GRCh37]
Chr9:9q34.3
uncertain significance
GRCh37/hg19 9q34.3(chr9:140657611-140781422)x1 copy number loss not provided [RCV000846719] Chr9:140657611..140781422 [GRCh37]
Chr9:9q34.3
pathogenic
GRCh37/hg19 9q34.3(chr9:140622578-141020389)x1 copy number loss not provided [RCV001006283] Chr9:140622578..141020389 [GRCh37]
Chr9:9q34.3
pathogenic
NM_024757.5(EHMT1):c.2927T>G (p.Leu976Arg) single nucleotide variant Inborn genetic diseases [RCV002440746]|Kleefstra syndrome 1 [RCV000810592]|not provided [RCV003318642] Chr9:137813065 [GRCh38]
Chr9:140707517 [GRCh37]
Chr9:9q34.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024757.5(EHMT1):c.2921C>T (p.Thr974Met) single nucleotide variant Kleefstra syndrome 1 [RCV000811002] Chr9:137813059 [GRCh38]
Chr9:140707511 [GRCh37]
Chr9:9q34.3
likely benign|uncertain significance
NM_024757.5(EHMT1):c.3758T>C (p.Leu1253Pro) single nucleotide variant Kleefstra syndrome 1 [RCV000824520] Chr9:137834814 [GRCh38]
Chr9:140729266 [GRCh37]
Chr9:9q34.3
likely benign|uncertain significance
NM_024757.5(EHMT1):c.1042_1043dup (p.Asp349fs) duplication Kleefstra syndrome 1 [RCV000825011] Chr9:137743960..137743961 [GRCh38]
Chr9:140638412..140638413 [GRCh37]
Chr9:9q34.3
likely pathogenic
NM_024757.5(EHMT1):c.128C>T (p.Ala43Val) single nucleotide variant Kleefstra syndrome 1 [RCV000822063] Chr9:137716668 [GRCh38]
Chr9:140611120 [GRCh37]
Chr9:9q34.3
benign|uncertain significance
NM_024757.5(EHMT1):c.720C>T (p.Asn240=) single nucleotide variant not provided [RCV001582041] Chr9:137728426 [GRCh38]
Chr9:140622878 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.3684C>T (p.Ser1228=) single nucleotide variant Kleefstra syndrome 1 [RCV000918059]|not provided [RCV003438588] Chr9:137834492 [GRCh38]
Chr9:140728944 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.270G>T (p.Arg90=) single nucleotide variant Kleefstra syndrome 1 [RCV001414469] Chr9:137716810 [GRCh38]
Chr9:140611262 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.3356T>C (p.Val1119Ala) single nucleotide variant Kleefstra syndrome 1 [RCV000813442] Chr9:137816044 [GRCh38]
Chr9:140710496 [GRCh37]
Chr9:9q34.3
benign|uncertain significance
NM_024757.5(EHMT1):c.674G>A (p.Arg225Gln) single nucleotide variant Kleefstra syndrome 1 [RCV000813737]|not provided [RCV001814240] Chr9:137728380 [GRCh38]
Chr9:140622832 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.217A>G (p.Thr73Ala) single nucleotide variant Kleefstra syndrome 1 [RCV000823219] Chr9:137716757 [GRCh38]
Chr9:140611209 [GRCh37]
Chr9:9q34.3
benign|uncertain significance
NM_024757.5(EHMT1):c.30G>A (p.Pro10=) single nucleotide variant Kleefstra syndrome 1 [RCV000942480]|not provided [RCV001593133] Chr9:137710975 [GRCh38]
Chr9:140605427 [GRCh37]
Chr9:9q34.3
likely benign
GRCh37/hg19 9q34.3(chr9:140603912-141020389)x1 copy number loss not provided [RCV000846092] Chr9:140603912..141020389 [GRCh37]
Chr9:9q34.3
pathogenic
NM_024757.5(EHMT1):c.21+8G>A single nucleotide variant Kleefstra syndrome 1 [RCV000914212] Chr9:137619057 [GRCh38]
Chr9:140513509 [GRCh37]
Chr9:9q34.3
likely benign
GRCh37/hg19 9q34.3(chr9:140401671-141020389)x1 copy number loss not provided [RCV001006281] Chr9:140401671..141020389 [GRCh37]
Chr9:9q34.3
pathogenic
NM_024757.5(EHMT1):c.2207G>A (p.Arg736His) single nucleotide variant not provided [RCV000999302] Chr9:137779649 [GRCh38]
Chr9:140674101 [GRCh37]
Chr9:9q34.3
uncertain significance
GRCh37/hg19 9q34.3(chr9:140352402-140600693)x3 copy number gain not provided [RCV000849422] Chr9:140352402..140600693 [GRCh37]
Chr9:9q34.3
uncertain significance
GRCh37/hg19 9q21.11-34.3(chr9:71416475-141020389)x3 copy number gain not provided [RCV000847808] Chr9:71416475..141020389 [GRCh37]
Chr9:9q21.11-34.3
pathogenic
NM_024757.5(EHMT1):c.1553C>G (p.Pro518Arg) single nucleotide variant Kleefstra syndrome 1 [RCV000988315] Chr9:137762726 [GRCh38]
Chr9:140657178 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.1203C>T (p.Ser401=) single nucleotide variant Kleefstra syndrome 1 [RCV001482831] Chr9:137752363 [GRCh38]
Chr9:140646815 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.1468C>T (p.Arg490Ter) single nucleotide variant Inborn genetic diseases [RCV003279125]|Marfanoid habitus and intellectual disability [RCV000850475]|not provided [RCV002274105] Chr9:137757978 [GRCh38]
Chr9:140652430 [GRCh37]
Chr9:9q34.3
pathogenic|likely pathogenic
NM_024757.5(EHMT1):c.736C>T (p.Arg246Ter) single nucleotide variant Kleefstra syndrome 1 [RCV001195946]|not provided [RCV003227006] Chr9:137728442 [GRCh38]
Chr9:140622894 [GRCh37]
Chr9:9q34.3
pathogenic|likely pathogenic
NM_024757.5(EHMT1):c.2608-1G>C single nucleotide variant Marfanoid habitus and intellectual disability [RCV000850472] Chr9:137800879 [GRCh38]
Chr9:140695331 [GRCh37]
Chr9:9q34.3
likely pathogenic
NM_024757.5(EHMT1):c.44C>T (p.Pro15Leu) single nucleotide variant Kleefstra syndrome 1 [RCV001213693]|not provided [RCV002469354] Chr9:137710989 [GRCh38]
Chr9:140605441 [GRCh37]
Chr9:9q34.3
benign|uncertain significance
NM_024757.5(EHMT1):c.2624C>G (p.Thr875Arg) single nucleotide variant not provided [RCV001171587] Chr9:137800896 [GRCh38]
Chr9:140695348 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.3174_3175delinsCG (p.Leu1059Val) indel Kleefstra syndrome 1 [RCV001202417] Chr9:137813524..137813525 [GRCh38]
Chr9:140707976..140707977 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.1262del (p.Ser421fs) deletion not provided [RCV001008199] Chr9:137754184 [GRCh38]
Chr9:140648636 [GRCh37]
Chr9:9q34.3
pathogenic
NM_024757.5(EHMT1):c.1685_1709dup (p.Leu571fs) duplication not provided [RCV001008445] Chr9:137775144..137775145 [GRCh38]
Chr9:140669596..140669597 [GRCh37]
Chr9:9q34.3
pathogenic
NM_024757.5(EHMT1):c.870dup (p.Arg291fs) duplication Kleefstra syndrome 1 [RCV001249617] Chr9:137743411..137743412 [GRCh38]
Chr9:140637863..140637864 [GRCh37]
Chr9:9q34.3
likely pathogenic
NM_024757.5(EHMT1):c.3782C>G (p.Pro1261Arg) single nucleotide variant Kleefstra syndrome 1 [RCV001234195] Chr9:137834838 [GRCh38]
Chr9:140729290 [GRCh37]
Chr9:9q34.3
likely benign|uncertain significance
NM_024757.5(EHMT1):c.334G>A (p.Asp112Asn) single nucleotide variant Inborn genetic diseases [RCV002563880]|Kleefstra syndrome 1 [RCV001237102] Chr9:137716874 [GRCh38]
Chr9:140611326 [GRCh37]
Chr9:9q34.3
benign|uncertain significance
NM_024757.5(EHMT1):c.2670G>T (p.Lys890Asn) single nucleotide variant Kleefstra syndrome 1 [RCV001213695] Chr9:137800942 [GRCh38]
Chr9:140695394 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.1398A>T (p.Gly466=) single nucleotide variant Kleefstra syndrome 1 [RCV001203178] Chr9:137757908 [GRCh38]
Chr9:140652360 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.1077C>G (p.Asp359Glu) single nucleotide variant Kleefstra syndrome 1 [RCV001240767] Chr9:137743997 [GRCh38]
Chr9:140638449 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.2608-1G>A single nucleotide variant Kleefstra syndrome 1 [RCV001209181] Chr9:137800879 [GRCh38]
Chr9:140695331 [GRCh37]
Chr9:9q34.3
pathogenic
NM_024757.5(EHMT1):c.680C>T (p.Ala227Val) single nucleotide variant Kleefstra syndrome 1 [RCV001203518] Chr9:137728386 [GRCh38]
Chr9:140622838 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.3037G>T (p.Asp1013Tyr) single nucleotide variant Kleefstra syndrome 1 [RCV001223183] Chr9:137813387 [GRCh38]
Chr9:140707839 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.12C>A (p.Ala4=) single nucleotide variant Kleefstra syndrome 1 [RCV001209610] Chr9:137619040 [GRCh38]
Chr9:140513492 [GRCh37]
Chr9:9q34.3
likely benign|uncertain significance
NM_024757.5(EHMT1):c.116C>G (p.Ala39Gly) single nucleotide variant Kleefstra syndrome 1 [RCV001223281] Chr9:137716656 [GRCh38]
Chr9:140611108 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.2557G>A (p.Glu853Lys) single nucleotide variant Kleefstra syndrome 1 [RCV001223282] Chr9:137798864 [GRCh38]
Chr9:140693316 [GRCh37]
Chr9:9q34.3
benign|uncertain significance
NM_024757.5(EHMT1):c.2761A>G (p.Ile921Val) single nucleotide variant Kleefstra syndrome 1 [RCV001221118] Chr9:137811509 [GRCh38]
Chr9:140705961 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.533C>G (p.Thr178Ser) single nucleotide variant Inborn genetic diseases [RCV003373077]|Kleefstra syndrome 1 [RCV001237800] Chr9:137717073 [GRCh38]
Chr9:140611525 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.3418G>T (p.Val1140Leu) single nucleotide variant Kleefstra syndrome 1 [RCV001223892] Chr9:137817482 [GRCh38]
Chr9:140711934 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.505C>T (p.Pro169Ser) single nucleotide variant Kleefstra syndrome 1 [RCV001224363]|not provided [RCV002305576] Chr9:137717045 [GRCh38]
Chr9:140611497 [GRCh37]
Chr9:9q34.3
benign|uncertain significance
NM_024757.5(EHMT1):c.283G>A (p.Gly95Arg) single nucleotide variant Kleefstra syndrome 1 [RCV001222272] Chr9:137716823 [GRCh38]
Chr9:140611275 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.689A>G (p.His230Arg) single nucleotide variant Kleefstra syndrome 1 [RCV001232572] Chr9:137728395 [GRCh38]
Chr9:140622847 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.592G>A (p.Val198Ile) single nucleotide variant Kleefstra syndrome 1 [RCV001198099] Chr9:137717132 [GRCh38]
Chr9:140611584 [GRCh37]
Chr9:9q34.3
conflicting interpretations of pathogenicity|uncertain significance
NM_024757.5(EHMT1):c.670G>A (p.Val224Ile) single nucleotide variant Kleefstra syndrome 1 [RCV001197575] Chr9:137728376 [GRCh38]
Chr9:140622828 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.3676TTC[1] (p.Phe1227del) microsatellite not provided [RCV001200204] Chr9:137834483..137834485 [GRCh38]
Chr9:140728935..140728937 [GRCh37]
Chr9:9q34.3
likely pathogenic|uncertain significance
GRCh37/hg19 9q34.3(chr9:140533412-140793866)x3 copy number gain not provided [RCV000847760] Chr9:140533412..140793866 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.1099G>C (p.Ala367Pro) single nucleotide variant not specified [RCV003317954] Chr9:137744019 [GRCh38]
Chr9:140638471 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.2187G>A (p.Ser729=) single nucleotide variant Kleefstra syndrome 1 [RCV001313353]|not provided [RCV000999301] Chr9:137778050 [GRCh38]
Chr9:140672502 [GRCh37]
Chr9:9q34.3
benign|uncertain significance
NM_024757.5(EHMT1):c.353C>G (p.Ser118Cys) single nucleotide variant not provided [RCV003318239] Chr9:137716893 [GRCh38]
Chr9:140611345 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.3416G>T (p.Gly1139Val) single nucleotide variant not provided [RCV003313536] Chr9:137817480 [GRCh38]
Chr9:140711932 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.2079dup (p.Glu694fs) duplication Kleefstra syndrome 1 [RCV001249618] Chr9:137777939..137777940 [GRCh38]
Chr9:140672391..140672392 [GRCh37]
Chr9:9q34.3
pathogenic
NM_024757.5(EHMT1):c.3290C>T (p.Ala1097Val) single nucleotide variant Kleefstra syndrome 1 [RCV003104541] Chr9:137815978 [GRCh38]
Chr9:140710430 [GRCh37]
Chr9:9q34.3
likely benign
NC_000009.11:g.(?_140646763)_(140881326_?)del deletion Kleefstra syndrome 1 [RCV003122292]|not provided [RCV003105291] Chr9:140646763..140881326 [GRCh37]
Chr9:9q34.3
pathogenic|no classifications from unflagged records
NC_000009.11:g.(?_139089171)_(141016451_?)del deletion Rafiq syndrome [RCV003122293]|not provided [RCV003105304] Chr9:139089171..141016451 [GRCh37]
Chr9:9q34.3
pathogenic|no classifications from unflagged records
NM_024757.5(EHMT1):c.642+1G>T single nucleotide variant not provided [RCV003127074] Chr9:137717183 [GRCh38]
Chr9:140611635 [GRCh37]
Chr9:9q34.3
pathogenic
NM_024757.5(EHMT1):c.2019-137C>T single nucleotide variant not provided [RCV001545130] Chr9:137777745 [GRCh38]
Chr9:140672197 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.1792-26A>T single nucleotide variant not provided [RCV001564612] Chr9:137776592 [GRCh38]
Chr9:140671044 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.1171-290C>G single nucleotide variant not provided [RCV001581596] Chr9:137752041 [GRCh38]
Chr9:140646493 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.2382+337C>T single nucleotide variant not provided [RCV001565822] Chr9:137782734 [GRCh38]
Chr9:140677186 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.2192+243T>C single nucleotide variant not provided [RCV001551948] Chr9:137778298 [GRCh38]
Chr9:140672750 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.643-13C>G single nucleotide variant Kleefstra syndrome 1 [RCV002568480]|not provided [RCV001574473] Chr9:137728336 [GRCh38]
Chr9:140622788 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.13G>A (p.Asp5Asn) single nucleotide variant not provided [RCV001570910]|not specified [RCV003399380] Chr9:137619041 [GRCh38]
Chr9:140513493 [GRCh37]
Chr9:9q34.3
likely benign|uncertain significance
NM_024757.5(EHMT1):c.2506-19A>T single nucleotide variant Kleefstra syndrome 1 [RCV003106685] Chr9:137798794 [GRCh38]
Chr9:140693246 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.2506-17del deletion Kleefstra syndrome 1 [RCV003106688] Chr9:137798796 [GRCh38]
Chr9:140693248 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.3374+89C>T single nucleotide variant not provided [RCV001653209] Chr9:137816151 [GRCh38]
Chr9:140710603 [GRCh37]
Chr9:9q34.3
benign
NM_024757.5(EHMT1):c.3035+47G>A single nucleotide variant not provided [RCV001716848] Chr9:137813220 [GRCh38]
Chr9:140707672 [GRCh37]
Chr9:9q34.3
benign
NM_024757.5(EHMT1):c.3541-88C>T single nucleotide variant not provided [RCV001575977] Chr9:137834261 [GRCh38]
Chr9:140728713 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.3374+22G>A single nucleotide variant not provided [RCV001655095] Chr9:137816084 [GRCh38]
Chr9:140710536 [GRCh37]
Chr9:9q34.3
benign
NM_024757.5(EHMT1):c.823+163C>T single nucleotide variant not provided [RCV001583541] Chr9:137728692 [GRCh38]
Chr9:140623144 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.1501+304C>T single nucleotide variant not provided [RCV001684721] Chr9:137758315 [GRCh38]
Chr9:140652767 [GRCh37]
Chr9:9q34.3
benign
NM_024757.5(EHMT1):c.1502-147A>G single nucleotide variant not provided [RCV001717073] Chr9:137762528 [GRCh38]
Chr9:140656980 [GRCh37]
Chr9:9q34.3
benign
NM_024757.5(EHMT1):c.3181-125G>A single nucleotide variant not provided [RCV001560879] Chr9:137814306 [GRCh38]
Chr9:140708758 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.981+42A>G single nucleotide variant not provided [RCV001561018] Chr9:137743570 [GRCh38]
Chr9:140638022 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.2868-55A>G single nucleotide variant not provided [RCV001537360] Chr9:137812951 [GRCh38]
Chr9:140707403 [GRCh37]
Chr9:9q34.3
benign
NM_024757.5(EHMT1):c.3180+162C>T single nucleotide variant not provided [RCV001576494] Chr9:137813692 [GRCh38]
Chr9:140708144 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.3462-4G>C single nucleotide variant Kleefstra syndrome 1 [RCV002072037]|not provided [RCV001550416] Chr9:137818056 [GRCh38]
Chr9:140712508 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.3181-39G>C single nucleotide variant not provided [RCV001561177] Chr9:137814392 [GRCh38]
Chr9:140708844 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.1370-33G>A single nucleotide variant not provided [RCV001598585] Chr9:137757847 [GRCh38]
Chr9:140652299 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.2505+38T>C single nucleotide variant not provided [RCV001591583] Chr9:137791008 [GRCh38]
Chr9:140685460 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.3462-125A>G single nucleotide variant not provided [RCV001717327] Chr9:137817935 [GRCh38]
Chr9:140712387 [GRCh37]
Chr9:9q34.3
benign
NM_024757.5(EHMT1):c.824C>T (p.Ala275Val) single nucleotide variant not provided [RCV001534931] Chr9:137743371 [GRCh38]
Chr9:140637823 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.22-64A>C single nucleotide variant not provided [RCV001717543] Chr9:137710903 [GRCh38]
Chr9:140605355 [GRCh37]
Chr9:9q34.3
benign
NM_024757.5(EHMT1):c.828C>T (p.Cys276=) single nucleotide variant not provided [RCV001593668] Chr9:137743375 [GRCh38]
Chr9:140637827 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.2506-255G>A single nucleotide variant not provided [RCV001619746] Chr9:137798558 [GRCh38]
Chr9:140693010 [GRCh37]
Chr9:9q34.3
benign
NR_122035.1(ARRDC1-AS1):n.1T>C single nucleotide variant not provided [RCV001659287] Chr9:137618895 [GRCh38]
Chr9:140513347 [GRCh37]
Chr9:9q34.3
benign
NR_122035.1(ARRDC1-AS1):n.142G>T single nucleotide variant not provided [RCV001577016] Chr9:137618754 [GRCh38]
Chr9:140513206 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.2712+140A>G single nucleotide variant not provided [RCV001714457] Chr9:137801124 [GRCh38]
Chr9:140695576 [GRCh37]
Chr9:9q34.3
benign
NM_024757.5(EHMT1):c.2748C>T (p.Ser916=) single nucleotide variant Kleefstra syndrome 1 [RCV002569093]|not provided [RCV001577684] Chr9:137811496 [GRCh38]
Chr9:140705948 [GRCh37]
Chr9:9q34.3
benign|likely benign
NM_024757.5(EHMT1):c.3374+21G>A single nucleotide variant not provided [RCV001562870] Chr9:137816083 [GRCh38]
Chr9:140710535 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.2276-130C>T single nucleotide variant not provided [RCV001592352] Chr9:137782161 [GRCh38]
Chr9:140676613 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.2608-343GT[3] microsatellite not provided [RCV001620376] Chr9:137800537..137800538 [GRCh38]
Chr9:140694989..140694990 [GRCh37]
Chr9:9q34.3
benign
NM_024757.5(EHMT1):c.2505+24C>T single nucleotide variant not provided [RCV001670529] Chr9:137790994 [GRCh38]
Chr9:140685446 [GRCh37]
Chr9:9q34.3
benign
NM_024757.5(EHMT1):c.2018+302C>T single nucleotide variant not provided [RCV001710766] Chr9:137777146 [GRCh38]
Chr9:140671598 [GRCh37]
Chr9:9q34.3
benign
NM_024757.5(EHMT1):c.2608-30C>T single nucleotide variant not provided [RCV001590576] Chr9:137800850 [GRCh38]
Chr9:140695302 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.22-85T>C single nucleotide variant not provided [RCV001714409] Chr9:137710882 [GRCh38]
Chr9:140605334 [GRCh37]
Chr9:9q34.3
benign
NM_024757.5(EHMT1):c.823+26T>C single nucleotide variant not provided [RCV001691932] Chr9:137728555 [GRCh38]
Chr9:140623007 [GRCh37]
Chr9:9q34.3
benign
NM_024757.5(EHMT1):c.1170+65A>T single nucleotide variant not provided [RCV001540088] Chr9:137744155 [GRCh38]
Chr9:140638607 [GRCh37]
Chr9:9q34.3
benign
NM_024757.5(EHMT1):c.2868-307T>A single nucleotide variant not provided [RCV001690179] Chr9:137812699 [GRCh38]
Chr9:140707151 [GRCh37]
Chr9:9q34.3
benign
NM_024757.5(EHMT1):c.3576C>T (p.Tyr1192=) single nucleotide variant Kleefstra syndrome 1 [RCV000924914]|not provided [RCV001577481] Chr9:137834384 [GRCh38]
Chr9:140728836 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.2898C>T (p.Thr966=) single nucleotide variant Kleefstra syndrome 1 [RCV001481388] Chr9:137813036 [GRCh38]
Chr9:140707488 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.567G>C (p.Arg189Ser) single nucleotide variant Kleefstra syndrome 1 [RCV001504198] Chr9:137717107 [GRCh38]
Chr9:140611559 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.312G>A (p.Ala104=) single nucleotide variant Kleefstra syndrome 1 [RCV000929795] Chr9:137716852 [GRCh38]
Chr9:140611304 [GRCh37]
Chr9:9q34.3
benign
NM_024757.5(EHMT1):c.3201C>T (p.Asp1067=) single nucleotide variant Kleefstra syndrome 1 [RCV001425230] Chr9:137814451 [GRCh38]
Chr9:140708903 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.3291G>A (p.Ala1097=) single nucleotide variant Kleefstra syndrome 1 [RCV000952943]|not provided [RCV001585886] Chr9:137815979 [GRCh38]
Chr9:140710431 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.142A>G (p.Met48Val) single nucleotide variant Inborn genetic diseases [RCV002391006]|Kleefstra syndrome 1 [RCV000953833]|not provided [RCV001615085] Chr9:137716682 [GRCh38]
Chr9:140611134 [GRCh37]
Chr9:9q34.3
benign|likely benign
NM_024757.5(EHMT1):c.2628C>T (p.Pro876=) single nucleotide variant Kleefstra syndrome 1 [RCV000879510] Chr9:137800900 [GRCh38]
Chr9:140695352 [GRCh37]
Chr9:9q34.3
benign
NM_024757.5(EHMT1):c.3632G>A (p.Arg1211His) single nucleotide variant Kleefstra syndrome 1 [RCV000953841]|not provided [RCV002255171] Chr9:137834440 [GRCh38]
Chr9:140728892 [GRCh37]
Chr9:9q34.3
likely benign|uncertain significance
NM_024757.5(EHMT1):c.2724T>A (p.Ile908=) single nucleotide variant not provided [RCV000895359] Chr9:137811472 [GRCh38]
Chr9:140705924 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.1113C>T (p.Pro371=) single nucleotide variant Kleefstra syndrome 1 [RCV002065945] Chr9:137744033 [GRCh38]
Chr9:140638485 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.3837G>A (p.Gln1279=) single nucleotide variant Kleefstra syndrome 1 [RCV000942276] Chr9:137834893 [GRCh38]
Chr9:140729345 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.1065G>A (p.Glu355=) single nucleotide variant Kleefstra syndrome 1 [RCV000901767] Chr9:137743985 [GRCh38]
Chr9:140638437 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.3072C>T (p.Pro1024=) single nucleotide variant Kleefstra syndrome 1 [RCV000981354] Chr9:137813422 [GRCh38]
Chr9:140707874 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.3324G>A (p.Ala1108=) single nucleotide variant Inborn genetic diseases [RCV002320162]|Kleefstra syndrome 1 [RCV000946346] Chr9:137816012 [GRCh38]
Chr9:140710464 [GRCh37]
Chr9:9q34.3
benign|likely benign
NM_024757.5(EHMT1):c.2523G>A (p.Thr841=) single nucleotide variant Kleefstra syndrome 1 [RCV000882364]|not provided [RCV001547546] Chr9:137798830 [GRCh38]
Chr9:140693282 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.824-10T>C single nucleotide variant Kleefstra syndrome 1 [RCV001496659] Chr9:137743361 [GRCh38]
Chr9:140637813 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.1716C>T (p.Leu572=) single nucleotide variant Kleefstra syndrome 1 [RCV001476020] Chr9:137775177 [GRCh38]
Chr9:140669629 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.1581G>A (p.Pro527=) single nucleotide variant Kleefstra syndrome 1 [RCV002066202] Chr9:137762754 [GRCh38]
Chr9:140657206 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.3561C>T (p.Ile1187=) single nucleotide variant Kleefstra syndrome 1 [RCV001435959] Chr9:137834369 [GRCh38]
Chr9:140728821 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.3225C>T (p.Cys1075=) single nucleotide variant Kleefstra syndrome 1 [RCV002065799]|not provided [RCV003438582] Chr9:137814475 [GRCh38]
Chr9:140708927 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.3789C>T (p.Cys1263=) single nucleotide variant Kleefstra syndrome 1 [RCV000917889] Chr9:137834845 [GRCh38]
Chr9:140729297 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.2613C>T (p.Asp871=) single nucleotide variant Kleefstra syndrome 1 [RCV000938942] Chr9:137800885 [GRCh38]
Chr9:140695337 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.2257A>G (p.Lys753Glu) single nucleotide variant Kleefstra syndrome 1 [RCV001034054] Chr9:137779699 [GRCh38]
Chr9:140674151 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.467C>T (p.Pro156Leu) single nucleotide variant Kleefstra syndrome 1 [RCV001199251] Chr9:137717007 [GRCh38]
Chr9:140611459 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.1054G>A (p.Asp352Asn) single nucleotide variant Kleefstra syndrome 1 [RCV001034881]|not provided [RCV001575780] Chr9:137743974 [GRCh38]
Chr9:140638426 [GRCh37]
Chr9:9q34.3
likely benign|uncertain significance
NM_024757.5(EHMT1):c.3667C>T (p.Arg1223Trp) single nucleotide variant Kleefstra syndrome 1 [RCV001208097] Chr9:137834475 [GRCh38]
Chr9:140728927 [GRCh37]
Chr9:9q34.3
likely benign|uncertain significance
NM_024757.5(EHMT1):c.40G>A (p.Glu14Lys) single nucleotide variant Kleefstra syndrome 1 [RCV001219836] Chr9:137710985 [GRCh38]
Chr9:140605437 [GRCh37]
Chr9:9q34.3
likely benign|uncertain significance
NM_024757.5(EHMT1):c.215A>G (p.His72Arg) single nucleotide variant Kleefstra syndrome 1 [RCV001213579] Chr9:137716755 [GRCh38]
Chr9:140611207 [GRCh37]
Chr9:9q34.3
benign|uncertain significance
NM_024757.5(EHMT1):c.2629A>G (p.Met877Val) single nucleotide variant Kleefstra syndrome 1 [RCV001054743] Chr9:137800901 [GRCh38]
Chr9:140695353 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.2974A>G (p.Ser992Gly) single nucleotide variant Kleefstra syndrome 1 [RCV001055627] Chr9:137813112 [GRCh38]
Chr9:140707564 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.1993G>A (p.Gly665Ser) single nucleotide variant Kleefstra syndrome 1 [RCV001056007] Chr9:137776819 [GRCh38]
Chr9:140671271 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.3659G>A (p.Arg1220Gln) single nucleotide variant Inborn genetic diseases [RCV002553848]|Kleefstra syndrome 1 [RCV001058816]|not provided [RCV001593233] Chr9:137834467 [GRCh38]
Chr9:140728919 [GRCh37]
Chr9:9q34.3
likely benign|uncertain significance
NM_024757.5(EHMT1):c.1105G>A (p.Ala369Thr) single nucleotide variant Inborn genetic diseases [RCV002553385]|Kleefstra syndrome 1 [RCV001060013] Chr9:137744025 [GRCh38]
Chr9:140638477 [GRCh37]
Chr9:9q34.3
benign|likely benign|uncertain significance
NM_024757.5(EHMT1):c.2338G>A (p.Ala780Thr) single nucleotide variant Kleefstra syndrome 1 [RCV001064580] Chr9:137782353 [GRCh38]
Chr9:140676805 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.1213G>A (p.Gly405Arg) single nucleotide variant Inborn genetic diseases [RCV002356925]|Kleefstra syndrome 1 [RCV001217486] Chr9:137752373 [GRCh38]
Chr9:140646825 [GRCh37]
Chr9:9q34.3
likely benign|uncertain significance
NM_024757.5(EHMT1):c.776C>T (p.Ser259Leu) single nucleotide variant Kleefstra syndrome 1 [RCV001217735] Chr9:137728482 [GRCh38]
Chr9:140622934 [GRCh37]
Chr9:9q34.3
likely benign|uncertain significance
NM_024757.5(EHMT1):c.3531C>T (p.Leu1177=) single nucleotide variant Kleefstra syndrome 1 [RCV002542288] Chr9:137818129 [GRCh38]
Chr9:140712581 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.2427G>A (p.Pro809=) single nucleotide variant Inborn genetic diseases [RCV002454087]|Kleefstra syndrome 1 [RCV000911400]|not provided [RCV001559033] Chr9:137790892 [GRCh38]
Chr9:140685344 [GRCh37]
Chr9:9q34.3
benign|likely benign
NM_024757.5(EHMT1):c.2661C>T (p.Asp887=) single nucleotide variant Inborn genetic diseases [RCV002427326]|Kleefstra syndrome 1 [RCV001421189] Chr9:137800933 [GRCh38]
Chr9:140695385 [GRCh37]
Chr9:9q34.3
benign|likely benign
NM_024757.5(EHMT1):c.2079C>T (p.Pro693=) single nucleotide variant Inborn genetic diseases [RCV002416176]|Kleefstra syndrome 1 [RCV000935413] Chr9:137777942 [GRCh38]
Chr9:140672394 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.432C>G (p.Ala144=) single nucleotide variant Kleefstra syndrome 1 [RCV001428721] Chr9:137716972 [GRCh38]
Chr9:140611424 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.3181-266C>T single nucleotide variant not provided [RCV001561732] Chr9:137814165 [GRCh38]
Chr9:140708617 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.3725_3726del (p.Tyr1242fs) deletion Kleefstra syndrome 1 [RCV002471434] Chr9:137834780..137834781 [GRCh38]
Chr9:140729232..140729233 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.824-2A>T single nucleotide variant Kleefstra syndrome 1 [RCV000988314] Chr9:137743369 [GRCh38]
Chr9:140637821 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.1493A>G (p.Gln498Arg) single nucleotide variant Kleefstra syndrome 1 [RCV001882645]|not provided [RCV001558397] Chr9:137758003 [GRCh38]
Chr9:140652455 [GRCh37]
Chr9:9q34.3
likely benign|uncertain significance
NM_024757.5(EHMT1):c.1170+232T>C single nucleotide variant not provided [RCV001578152] Chr9:137744322 [GRCh38]
Chr9:140638774 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.22-217A>G single nucleotide variant not provided [RCV001717560] Chr9:137710750 [GRCh38]
Chr9:140605202 [GRCh37]
Chr9:9q34.3
benign
NM_024757.5(EHMT1):c.1647+78C>T single nucleotide variant not provided [RCV001552349] Chr9:137762898 [GRCh38]
Chr9:140657350 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.3035+63C>T single nucleotide variant not provided [RCV001552389] Chr9:137813236 [GRCh38]
Chr9:140707688 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.2018+248T>C single nucleotide variant not provided [RCV001559004] Chr9:137777092 [GRCh38]
Chr9:140671544 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.2382+151C>T single nucleotide variant not provided [RCV001559408] Chr9:137782548 [GRCh38]
Chr9:140677000 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.1248+218G>A single nucleotide variant not provided [RCV001665067] Chr9:137752626 [GRCh38]
Chr9:140647078 [GRCh37]
Chr9:9q34.3
benign
NM_024757.5(EHMT1):c.1647+109C>T single nucleotide variant not provided [RCV001553278] Chr9:137762929 [GRCh38]
Chr9:140657381 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.2382+1884G>A single nucleotide variant not provided [RCV001676314] Chr9:137784281 [GRCh38]
Chr9:140678733 [GRCh37]
Chr9:9q34.3
benign
NM_024757.5(EHMT1):c.1648-280G>A single nucleotide variant not provided [RCV001554976] Chr9:137774829 [GRCh38]
Chr9:140669281 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.2618G>T (p.Gly873Val) single nucleotide variant Kleefstra syndrome 1 [RCV003234810] Chr9:137800890 [GRCh38]
Chr9:140695342 [GRCh37]
Chr9:9q34.3
likely pathogenic
NM_024757.5(EHMT1):c.2608-193G>A single nucleotide variant not provided [RCV001569070] Chr9:137800687 [GRCh38]
Chr9:140695139 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.494C>A (p.Pro165Gln) single nucleotide variant Kleefstra syndrome 1 [RCV003120625]|not provided [RCV001547468] Chr9:137717034 [GRCh38]
Chr9:140611486 [GRCh37]
Chr9:9q34.3
benign|likely benign
NM_024757.5(EHMT1):c.580C>T (p.Pro194Ser) single nucleotide variant Kleefstra syndrome 1 [RCV002470376] Chr9:137717120 [GRCh38]
Chr9:140611572 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.3332G>C (p.Cys1111Ser) single nucleotide variant Kleefstra syndrome 1 [RCV002465442] Chr9:137816020 [GRCh38]
Chr9:140710472 [GRCh37]
Chr9:9q34.3
pathogenic
NM_024757.5(EHMT1):c.3563A>G (p.Asp1188Gly) single nucleotide variant EHMT1-related condition [RCV003403845]|not provided [RCV002469742] Chr9:137834371 [GRCh38]
Chr9:140728823 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.2505G>A (p.Lys835=) single nucleotide variant Kleefstra syndrome 1 [RCV002472048] Chr9:137790970 [GRCh38]
Chr9:140685422 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.2018+1G>C single nucleotide variant Kleefstra syndrome 1 [RCV001263214] Chr9:137776845 [GRCh38]
Chr9:140671297 [GRCh37]
Chr9:9q34.3
pathogenic
NM_024757.5(EHMT1):c.1292del (p.Gly431fs) deletion not provided [RCV001009042] Chr9:137754213 [GRCh38]
Chr9:140648665 [GRCh37]
Chr9:9q34.3
pathogenic
NM_024757.5(EHMT1):c.2713-108T>C single nucleotide variant not provided [RCV001655348] Chr9:137811353 [GRCh38]
Chr9:140705805 [GRCh37]
Chr9:9q34.3
benign
NM_024757.5(EHMT1):c.2712+231G>A single nucleotide variant not provided [RCV001589593] Chr9:137801215 [GRCh38]
Chr9:140695667 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.1501+74G>T single nucleotide variant not provided [RCV001652198] Chr9:137758085 [GRCh38]
Chr9:140652537 [GRCh37]
Chr9:9q34.3
benign
NM_024757.5(EHMT1):c.2868-160C>T single nucleotide variant not provided [RCV001539367] Chr9:137812846 [GRCh38]
Chr9:140707298 [GRCh37]
Chr9:9q34.3
benign
NM_024757.5(EHMT1):c.2713-117G>A single nucleotide variant not provided [RCV001718074] Chr9:137811344 [GRCh38]
Chr9:140705796 [GRCh37]
Chr9:9q34.3
benign
NM_024757.5(EHMT1):c.1647+82C>G single nucleotide variant not provided [RCV001596075] Chr9:137762902 [GRCh38]
Chr9:140657354 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.3329C>T (p.Ser1110Phe) single nucleotide variant EHMT1-related condition [RCV003401564]|Kleefstra syndrome 1 [RCV002073050]|not provided [RCV001653007] Chr9:137816017 [GRCh38]
Chr9:140710469 [GRCh37]
Chr9:9q34.3
likely benign|uncertain significance
NM_024757.5(EHMT1):c.1501+108C>G single nucleotide variant not provided [RCV001639416] Chr9:137758119 [GRCh38]
Chr9:140652571 [GRCh37]
Chr9:9q34.3
benign
NM_024757.5(EHMT1):c.1170+225dup duplication not provided [RCV001709797] Chr9:137744305..137744306 [GRCh38]
Chr9:140638757..140638758 [GRCh37]
Chr9:9q34.3
benign
NM_024757.5(EHMT1):c.824-294A>G single nucleotide variant not provided [RCV001621616] Chr9:137743077 [GRCh38]
Chr9:140637529 [GRCh37]
Chr9:9q34.3
benign
NM_024757.5(EHMT1):c.2867+152C>T single nucleotide variant not provided [RCV001655975] Chr9:137811767 [GRCh38]
Chr9:140706219 [GRCh37]
Chr9:9q34.3
benign
NM_024757.5(EHMT1):c.2383-50G>A single nucleotide variant not provided [RCV001598413] Chr9:137790798 [GRCh38]
Chr9:140685250 [GRCh37]
Chr9:9q34.3
benign
NM_024757.5(EHMT1):c.1170+247T>G single nucleotide variant not provided [RCV001545235] Chr9:137744337 [GRCh38]
Chr9:140638789 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.22-37C>G single nucleotide variant not provided [RCV001637896] Chr9:137710930 [GRCh38]
Chr9:140605382 [GRCh37]
Chr9:9q34.3
benign
NM_024757.5(EHMT1):c.2867+241T>C single nucleotide variant not provided [RCV001686823] Chr9:137811856 [GRCh38]
Chr9:140706308 [GRCh37]
Chr9:9q34.3
benign
NM_024757.5(EHMT1):c.2382+1781C>T single nucleotide variant not provided [RCV001683862] Chr9:137784178 [GRCh38]
Chr9:140678630 [GRCh37]
Chr9:9q34.3
benign
NM_024757.5(EHMT1):c.1370-136del deletion not provided [RCV001678082] Chr9:137757742 [GRCh38]
Chr9:140652194 [GRCh37]
Chr9:9q34.3
benign
NM_024757.5(EHMT1):c.*4G>A single nucleotide variant not provided [RCV001715277] Chr9:137834957 [GRCh38]
Chr9:140729409 [GRCh37]
Chr9:9q34.3
benign
NM_024757.5(EHMT1):c.2505+185T>C single nucleotide variant not provided [RCV001686666] Chr9:137791155 [GRCh38]
Chr9:140685607 [GRCh37]
Chr9:9q34.3
benign
NM_024757.5(EHMT1):c.2506-84G>A single nucleotide variant not provided [RCV001718184] Chr9:137798729 [GRCh38]
Chr9:140693181 [GRCh37]
Chr9:9q34.3
benign
NM_024757.5(EHMT1):c.1648-281C>T single nucleotide variant not provided [RCV001677310] Chr9:137774828 [GRCh38]
Chr9:140669280 [GRCh37]
Chr9:9q34.3
benign
NM_024757.5(EHMT1):c.325G>C (p.Val109Leu) single nucleotide variant Intellectual disability [RCV001252233] Chr9:137716865 [GRCh38]
Chr9:140611317 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.1567C>T (p.Arg523Trp) single nucleotide variant Kleefstra syndrome 1 [RCV001040730]|not provided [RCV001564563] Chr9:137762740 [GRCh38]
Chr9:140657192 [GRCh37]
Chr9:9q34.3
likely benign|uncertain significance
NM_024757.5(EHMT1):c.1647A>C (p.Glu549Asp) single nucleotide variant Kleefstra syndrome 1 [RCV001048884]|not provided [RCV001593219] Chr9:137762820 [GRCh38]
Chr9:140657272 [GRCh37]
Chr9:9q34.3
likely benign|uncertain significance
NM_024757.5(EHMT1):c.2272C>G (p.Leu758Val) single nucleotide variant Kleefstra syndrome 1 [RCV001052852]|not provided [RCV001772263] Chr9:137779714 [GRCh38]
Chr9:140674166 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.555del (p.Asp185fs) deletion not provided [RCV001171611] Chr9:137717095 [GRCh38]
Chr9:140611547 [GRCh37]
Chr9:9q34.3
likely pathogenic
NM_024757.5(EHMT1):c.3358G>A (p.Val1120Ile) single nucleotide variant Kleefstra syndrome 1 [RCV001033984] Chr9:137816046 [GRCh38]
Chr9:140710498 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.35G>A (p.Arg12Lys) single nucleotide variant Inborn genetic diseases [RCV002552048]|Kleefstra syndrome 1 [RCV001034023] Chr9:137710980 [GRCh38]
Chr9:140605432 [GRCh37]
Chr9:9q34.3
benign|likely benign
NM_024757.5(EHMT1):c.2149A>G (p.Lys717Glu) single nucleotide variant Kleefstra syndrome 1 [RCV001034057] Chr9:137778012 [GRCh38]
Chr9:140672464 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.1286G>C (p.Arg429Thr) single nucleotide variant Kleefstra syndrome 1 [RCV001034210] Chr9:137754208 [GRCh38]
Chr9:140648660 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.770A>C (p.His257Pro) single nucleotide variant Inborn genetic diseases [RCV003243397]|Kleefstra syndrome 1 [RCV001034254]|not provided [RCV001561346] Chr9:137728476 [GRCh38]
Chr9:140622928 [GRCh37]
Chr9:9q34.3
benign|likely benign
NM_024757.5(EHMT1):c.3062T>A (p.Ile1021Asn) single nucleotide variant Kleefstra syndrome 1 [RCV001034337] Chr9:137813412 [GRCh38]
Chr9:140707864 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.3181-10C>G single nucleotide variant Kleefstra syndrome 1 [RCV001034348] Chr9:137814421 [GRCh38]
Chr9:140708873 [GRCh37]
Chr9:9q34.3
benign
NM_024757.5(EHMT1):c.751C>A (p.Pro251Thr) single nucleotide variant Kleefstra syndrome 1 [RCV001034357] Chr9:137728457 [GRCh38]
Chr9:140622909 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.454G>A (p.Ala152Thr) single nucleotide variant Kleefstra syndrome 1 [RCV001034412] Chr9:137716994 [GRCh38]
Chr9:140611446 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.484G>A (p.Gly162Ser) single nucleotide variant Kleefstra syndrome 1 [RCV001034484] Chr9:137717024 [GRCh38]
Chr9:140611476 [GRCh37]
Chr9:9q34.3
benign
NM_024757.5(EHMT1):c.2377G>C (p.Val793Leu) single nucleotide variant Kleefstra syndrome 1 [RCV001034489] Chr9:137782392 [GRCh38]
Chr9:140676844 [GRCh37]
Chr9:9q34.3
benign
NM_024757.5(EHMT1):c.1171-136C>T single nucleotide variant not provided [RCV001693174] Chr9:137752195 [GRCh38]
Chr9:140646647 [GRCh37]
Chr9:9q34.3
benign
NM_024757.5(EHMT1):c.2506-43T>C single nucleotide variant not provided [RCV001695916] Chr9:137798770 [GRCh38]
Chr9:140693222 [GRCh37]
Chr9:9q34.3
benign
NM_024757.5(EHMT1):c.1370-100T>G single nucleotide variant not provided [RCV001684039] Chr9:137757780 [GRCh38]
Chr9:140652232 [GRCh37]
Chr9:9q34.3
benign
NM_024757.5(EHMT1):c.3181-115T>G single nucleotide variant not provided [RCV001651877] Chr9:137814316 [GRCh38]
Chr9:140708768 [GRCh37]
Chr9:9q34.3
benign
NM_024757.5(EHMT1):c.2382+1888T>C single nucleotide variant not provided [RCV001590475] Chr9:137784285 [GRCh38]
Chr9:140678737 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.1601C>T (p.Thr534Ile) single nucleotide variant Kleefstra syndrome 1 [RCV001044574] Chr9:137762774 [GRCh38]
Chr9:140657226 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.2712+22C>T single nucleotide variant not provided [RCV001583348] Chr9:137801006 [GRCh38]
Chr9:140695458 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.2505+44C>T single nucleotide variant not provided [RCV001643999] Chr9:137791014 [GRCh38]
Chr9:140685466 [GRCh37]
Chr9:9q34.3
benign
NM_024757.5(EHMT1):c.2712+37G>A single nucleotide variant not provided [RCV001713420] Chr9:137801021 [GRCh38]
Chr9:140695473 [GRCh37]
Chr9:9q34.3
benign
NM_024757.5(EHMT1):c.1501+1del deletion Kleefstra syndrome 1 [RCV001706951] Chr9:137758011 [GRCh38]
Chr9:140652463 [GRCh37]
Chr9:9q34.3
pathogenic
NM_024757.5(EHMT1):c.2019-40C>T single nucleotide variant not provided [RCV001645034] Chr9:137777842 [GRCh38]
Chr9:140672294 [GRCh37]
Chr9:9q34.3
benign
NM_024757.5(EHMT1):c.1370-276G>A single nucleotide variant not provided [RCV001690221] Chr9:137757604 [GRCh38]
Chr9:140652056 [GRCh37]
Chr9:9q34.3
benign
NM_024757.5(EHMT1):c.1370-35G>C single nucleotide variant not provided [RCV001690598] Chr9:137757845 [GRCh38]
Chr9:140652297 [GRCh37]
Chr9:9q34.3
benign
NC_000009.12:g.(?_137790828)_(137790990_?)del deletion Kleefstra syndrome 1 [RCV001031269] Chr9:140685280..140685442 [GRCh37]
Chr9:9q34.3
likely pathogenic
NM_024757.5(EHMT1):c.1791+16G>A single nucleotide variant Kleefstra syndrome 1 [RCV002073047]|not provided [RCV001665300] Chr9:137775268 [GRCh38]
Chr9:140669720 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.2713-191T>C single nucleotide variant not provided [RCV001669782] Chr9:137811270 [GRCh38]
Chr9:140705722 [GRCh37]
Chr9:9q34.3
benign
NC_000009.12:g.(?_137790828)_(137818158_?)del deletion Kleefstra syndrome 1 [RCV001031602] Chr9:140685280..140712610 [GRCh37]
Chr9:9q34.3
likely pathogenic
NC_000009.11:g.(?_138645763)_(140729425_?)del deletion Developmental and epileptic encephalopathy, 14 [RCV001362982]|Kleefstra syndrome 1 [RCV001031921] Chr9:138645763..140729425 [GRCh37]
Chr9:9q34.3
pathogenic|uncertain significance
NM_024757.5(EHMT1):c.823+46C>T single nucleotide variant not provided [RCV001714422] Chr9:137728575 [GRCh38]
Chr9:140623027 [GRCh37]
Chr9:9q34.3
benign
NM_024757.5(EHMT1):c.3181-49T>C single nucleotide variant not provided [RCV001540652] Chr9:137814382 [GRCh38]
Chr9:140708834 [GRCh37]
Chr9:9q34.3
benign
NM_024757.5(EHMT1):c.134A>G (p.Glu45Gly) single nucleotide variant Kleefstra syndrome 1 [RCV001034077] Chr9:137716674 [GRCh38]
Chr9:140611126 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.2803G>A (p.Val935Met) single nucleotide variant Intellectual disability [RCV001252234]|Kleefstra syndrome 1 [RCV001034506] Chr9:137811551 [GRCh38]
Chr9:140706003 [GRCh37]
Chr9:9q34.3
likely benign|conflicting interpretations of pathogenicity
NM_024757.5(EHMT1):c.3883G>A (p.Ala1295Thr) single nucleotide variant Inborn genetic diseases [RCV003353234]|Kleefstra syndrome 1 [RCV001233052] Chr9:137834939 [GRCh38]
Chr9:140729391 [GRCh37]
Chr9:9q34.3
likely benign|uncertain significance
NM_024757.5(EHMT1):c.3529C>T (p.Leu1177Phe) single nucleotide variant Kleefstra syndrome 1 [RCV001246679] Chr9:137818127 [GRCh38]
Chr9:140712579 [GRCh37]
Chr9:9q34.3
likely benign|uncertain significance
NM_024757.5(EHMT1):c.1691G>A (p.Arg564His) single nucleotide variant Kleefstra syndrome 1 [RCV001236683] Chr9:137775152 [GRCh38]
Chr9:140669604 [GRCh37]
Chr9:9q34.3
benign|uncertain significance
NM_024757.5(EHMT1):c.988A>G (p.Lys330Glu) single nucleotide variant Kleefstra syndrome 1 [RCV001037907] Chr9:137743908 [GRCh38]
Chr9:140638360 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.275C>G (p.Ala92Gly) single nucleotide variant Kleefstra syndrome 1 [RCV001039363] Chr9:137716815 [GRCh38]
Chr9:140611267 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.82G>C (p.Glu28Gln) single nucleotide variant Kleefstra syndrome 1 [RCV001217725]|See cases [RCV002252332]|not provided [RCV001773485]|not specified [RCV002249809] Chr9:137711027 [GRCh38]
Chr9:140605479 [GRCh37]
Chr9:9q34.3
benign|uncertain significance
NM_024757.5(EHMT1):c.3532G>A (p.Asp1178Asn) single nucleotide variant Inborn genetic diseases [RCV002552497]|Kleefstra syndrome 1 [RCV001041005] Chr9:137818130 [GRCh38]
Chr9:140712582 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.2356G>T (p.Val786Leu) single nucleotide variant Kleefstra syndrome 1 [RCV001214856] Chr9:137782371 [GRCh38]
Chr9:140676823 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.581C>G (p.Pro194Arg) single nucleotide variant Kleefstra syndrome 1 [RCV001214881] Chr9:137717121 [GRCh38]
Chr9:140611573 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.1311G>A (p.Trp437Ter) single nucleotide variant Inborn genetic diseases [RCV003163501]|Kleefstra syndrome 1 [RCV001199026] Chr9:137754233 [GRCh38]
Chr9:140648685 [GRCh37]
Chr9:9q34.3
pathogenic|likely pathogenic
NM_024757.5(EHMT1):c.164A>G (p.Asn55Ser) single nucleotide variant Kleefstra syndrome 1 [RCV001230403]|not provided [RCV001751448] Chr9:137716704 [GRCh38]
Chr9:140611156 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.466C>G (p.Pro156Ala) single nucleotide variant Kleefstra syndrome 1 [RCV001050957] Chr9:137717006 [GRCh38]
Chr9:140611458 [GRCh37]
Chr9:9q34.3
likely benign|uncertain significance
NM_024757.5(EHMT1):c.2035C>G (p.Leu679Val) single nucleotide variant Kleefstra syndrome 1 [RCV001208510] Chr9:137777898 [GRCh38]
Chr9:140672350 [GRCh37]
Chr9:9q34.3
likely benign|uncertain significance
NM_024757.5(EHMT1):c.1369G>A (p.Gly457Ser) single nucleotide variant Kleefstra syndrome 1 [RCV001208654] Chr9:137754291 [GRCh38]
Chr9:140648743 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.2973G>A (p.Met991Ile) single nucleotide variant Kleefstra syndrome 1 [RCV001237070] Chr9:137813111 [GRCh38]
Chr9:140707563 [GRCh37]
Chr9:9q34.3
likely benign|uncertain significance
NM_024757.5(EHMT1):c.1283A>G (p.Lys428Arg) single nucleotide variant Kleefstra syndrome 1 [RCV001055887] Chr9:137754205 [GRCh38]
Chr9:140648657 [GRCh37]
Chr9:9q34.3
benign|uncertain significance
NM_024757.5(EHMT1):c.1053C>G (p.Asp351Glu) single nucleotide variant Kleefstra syndrome 1 [RCV001057918] Chr9:137743973 [GRCh38]
Chr9:140638425 [GRCh37]
Chr9:9q34.3
benign|uncertain significance
NM_024757.5(EHMT1):c.1604T>G (p.Leu535Arg) single nucleotide variant Kleefstra syndrome 1 [RCV001236061] Chr9:137762777 [GRCh38]
Chr9:140657229 [GRCh37]
Chr9:9q34.3
likely benign|uncertain significance
NM_024757.5(EHMT1):c.3305T>C (p.Ile1102Thr) single nucleotide variant Kleefstra syndrome 1 [RCV001220275] Chr9:137815993 [GRCh38]
Chr9:140710445 [GRCh37]
Chr9:9q34.3
likely benign|uncertain significance
NM_024757.5(EHMT1):c.2992T>G (p.Ser998Ala) single nucleotide variant Kleefstra syndrome 1 [RCV001202374] Chr9:137813130 [GRCh38]
Chr9:140707582 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.2340G>A (p.Ala780=) single nucleotide variant Kleefstra syndrome 1 [RCV001063856]|not provided [RCV001796361] Chr9:137782355 [GRCh38]
Chr9:140676807 [GRCh37]
Chr9:9q34.3
benign|likely benign|uncertain significance
NM_024757.5(EHMT1):c.2110C>T (p.Leu704Phe) single nucleotide variant Inborn genetic diseases [RCV002418746]|Kleefstra syndrome 1 [RCV001217116] Chr9:137777973 [GRCh38]
Chr9:140672425 [GRCh37]
Chr9:9q34.3
benign|likely benign|uncertain significance
NM_024757.5(EHMT1):c.97G>T (p.Ala33Ser) single nucleotide variant Inborn genetic diseases [RCV002561209]|Kleefstra syndrome 1 [RCV001206036]|not provided [RCV001567773] Chr9:137716637 [GRCh38]
Chr9:140611089 [GRCh37]
Chr9:9q34.3
likely benign|uncertain significance
NM_024757.5(EHMT1):c.2494G>A (p.Val832Met) single nucleotide variant Kleefstra syndrome 1 [RCV001235059] Chr9:137790959 [GRCh38]
Chr9:140685411 [GRCh37]
Chr9:9q34.3
likely benign|uncertain significance
NM_024757.5(EHMT1):c.2074G>A (p.Val692Met) single nucleotide variant Kleefstra syndrome 1 [RCV001207022] Chr9:137777937 [GRCh38]
Chr9:140672389 [GRCh37]
Chr9:9q34.3
likely benign|uncertain significance
NM_024757.5(EHMT1):c.1279C>T (p.Leu427Phe) single nucleotide variant Kleefstra syndrome 1 [RCV001213283] Chr9:137754201 [GRCh38]
Chr9:140648653 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.2385G>A (p.Ala795=) single nucleotide variant Inborn genetic diseases [RCV002451543]|Kleefstra syndrome 1 [RCV001230719] Chr9:137790850 [GRCh38]
Chr9:140685302 [GRCh37]
Chr9:9q34.3
likely benign|uncertain significance
NM_024757.5(EHMT1):c.216C>A (p.His72Gln) single nucleotide variant Inborn genetic diseases [RCV002430051]|Kleefstra syndrome 1 [RCV001248374] Chr9:137716756 [GRCh38]
Chr9:140611208 [GRCh37]
Chr9:9q34.3
conflicting interpretations of pathogenicity|uncertain significance
NM_024757.5(EHMT1):c.1336C>T (p.Arg446Trp) single nucleotide variant Kleefstra syndrome 1 [RCV001248178] Chr9:137754258 [GRCh38]
Chr9:140648710 [GRCh37]
Chr9:9q34.3
likely benign|uncertain significance
NM_024757.5(EHMT1):c.142A>C (p.Met48Leu) single nucleotide variant Kleefstra syndrome 1 [RCV001216957] Chr9:137716682 [GRCh38]
Chr9:140611134 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.1469G>A (p.Arg490Gln) single nucleotide variant Kleefstra syndrome 1 [RCV001236539] Chr9:137757979 [GRCh38]
Chr9:140652431 [GRCh37]
Chr9:9q34.3
benign|uncertain significance
NC_000009.12:g.(?_137743351)_(137744110_?)dup duplication Kleefstra syndrome 1 [RCV001032487] Chr9:140637803..140638562 [GRCh37]
Chr9:9q34.3
likely pathogenic
NM_024757.5(EHMT1):c.1170+5G>A single nucleotide variant Kleefstra syndrome 1 [RCV001036553] Chr9:137744095 [GRCh38]
Chr9:140638547 [GRCh37]
Chr9:9q34.3
likely benign|uncertain significance
NM_024757.5(EHMT1):c.1204G>A (p.Val402Met) single nucleotide variant Kleefstra syndrome 1 [RCV001039619]|not provided [RCV003332286] Chr9:137752364 [GRCh38]
Chr9:140646816 [GRCh37]
Chr9:9q34.3
benign|uncertain significance
NM_024757.5(EHMT1):c.1966G>A (p.Gly656Arg) single nucleotide variant Kleefstra syndrome 1 [RCV001203506] Chr9:137776792 [GRCh38]
Chr9:140671244 [GRCh37]
Chr9:9q34.3
likely benign|uncertain significance
GRCh37/hg19 9q34.3(chr9:140612478-141020389)x1 copy number loss not provided [RCV001006282] Chr9:140612478..141020389 [GRCh37]
Chr9:9q34.3
pathogenic
NM_024757.5(EHMT1):c.2965C>G (p.Leu989Val) single nucleotide variant not provided [RCV001172198] Chr9:137813103 [GRCh38]
Chr9:140707555 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.2993C>T (p.Ser998Leu) single nucleotide variant Kleefstra syndrome 1 [RCV001213182] Chr9:137813131 [GRCh38]
Chr9:140707583 [GRCh37]
Chr9:9q34.3
likely benign|uncertain significance
NM_024757.5(EHMT1):c.2533C>G (p.Leu845Val) single nucleotide variant Kleefstra syndrome 1 [RCV001205008] Chr9:137798840 [GRCh38]
Chr9:140693292 [GRCh37]
Chr9:9q34.3
likely benign|uncertain significance
NM_024757.5(EHMT1):c.2060G>A (p.Gly687Asp) single nucleotide variant Kleefstra syndrome 1 [RCV001214872] Chr9:137777923 [GRCh38]
Chr9:140672375 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.1170+3A>G single nucleotide variant Kleefstra syndrome 1 [RCV001065979] Chr9:137744093 [GRCh38]
Chr9:140638545 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.1813C>T (p.Pro605Ser) single nucleotide variant Kleefstra syndrome 1 [RCV001068684] Chr9:137776639 [GRCh38]
Chr9:140671091 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.141C>G (p.His47Gln) single nucleotide variant Kleefstra syndrome 1 [RCV001216517] Chr9:137716681 [GRCh38]
Chr9:140611133 [GRCh37]
Chr9:9q34.3
benign|uncertain significance
NM_024757.5(EHMT1):c.37G>T (p.Gly13Trp) single nucleotide variant not provided [RCV001092466] Chr9:137710982 [GRCh38]
Chr9:140605434 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.3266G>A (p.Arg1089Gln) single nucleotide variant Kleefstra syndrome 1 [RCV001033986]|not provided [RCV001772203] Chr9:137815954 [GRCh38]
Chr9:140710406 [GRCh37]
Chr9:9q34.3
likely benign|uncertain significance
NM_024757.5(EHMT1):c.325G>A (p.Val109Ile) single nucleotide variant Inborn genetic diseases [RCV002445203]|Kleefstra syndrome 1 [RCV001034162]|not provided [RCV001577454] Chr9:137716865 [GRCh38]
Chr9:140611317 [GRCh37]
Chr9:9q34.3
benign|likely benign
NM_024757.5(EHMT1):c.324C>G (p.His108Gln) single nucleotide variant Kleefstra syndrome 1 [RCV001034476] Chr9:137716864 [GRCh38]
Chr9:140611316 [GRCh37]
Chr9:9q34.3
likely benign|conflicting interpretations of pathogenicity
NM_024757.5(EHMT1):c.3627_3633dup (p.Val1212fs) duplication Kleefstra syndrome 1 [RCV001254911] Chr9:137834433..137834434 [GRCh38]
Chr9:140728885..140728886 [GRCh37]
Chr9:9q34.3
likely pathogenic
NM_024757.5(EHMT1):c.508del (p.Gln170fs) deletion Kleefstra syndrome 1 [RCV001254072] Chr9:137717045 [GRCh38]
Chr9:140611497 [GRCh37]
Chr9:9q34.3
pathogenic
NM_024757.5(EHMT1):c.3462-1G>A single nucleotide variant Kleefstra syndrome 1 [RCV001264758] Chr9:137818059 [GRCh38]
Chr9:140712511 [GRCh37]
Chr9:9q34.3
pathogenic
GRCh37/hg19 9q34.3(chr9:138225001-141015001) copy number loss Microcephaly [RCV001252947] Chr9:138225001..141015001 [GRCh37]
Chr9:9q34.3
pathogenic
NM_024757.5(EHMT1):c.49C>A (p.Gln17Lys) single nucleotide variant Intellectual disability [RCV001252235] Chr9:137710994 [GRCh38]
Chr9:140605446 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.1543_1555del (p.Gln515fs) deletion Intellectual disability [RCV001260701] Chr9:137762711..137762723 [GRCh38]
Chr9:140657163..140657175 [GRCh37]
Chr9:9q34.3
pathogenic
NM_024757.5(EHMT1):c.21+1_21+5del deletion Kleefstra syndrome 1 [RCV001251096] Chr9:137619047..137619051 [GRCh38]
Chr9:140513499..140513503 [GRCh37]
Chr9:9q34.3
likely pathogenic
NC_000009.11:g.(?_139018777)_(141018984_?)del deletion Kleefstra syndrome 1 [RCV001267844] Chr9:139018777..141018984 [GRCh37]
Chr9:9q34.3
pathogenic
GRCh37/hg19 9q34.3(chr9:140657896-140716973)x1 copy number loss not provided [RCV001259532] Chr9:140657896..140716973 [GRCh37]
Chr9:9q34.3
pathogenic
GRCh37/hg19 9q34.3(chr9:140458395-140638045)x1 copy number loss not provided [RCV001259533] Chr9:140458395..140638045 [GRCh37]
Chr9:9q34.3
pathogenic
NM_024757.5(EHMT1):c.642+1G>C single nucleotide variant not provided [RCV001766010] Chr9:137717183 [GRCh38]
Chr9:140611635 [GRCh37]
Chr9:9q34.3
pathogenic
NM_024757.5(EHMT1):c.98C>G (p.Ala33Gly) single nucleotide variant Inborn genetic diseases [RCV001267183] Chr9:137716638 [GRCh38]
Chr9:140611090 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.592G>C (p.Val198Leu) single nucleotide variant not provided [RCV001255100] Chr9:137717132 [GRCh38]
Chr9:140611584 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.694G>A (p.Glu232Lys) single nucleotide variant not provided [RCV001311046] Chr9:137728400 [GRCh38]
Chr9:140622852 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.3343T>G (p.Cys1115Gly) single nucleotide variant Kleefstra syndrome 1 [RCV001258341] Chr9:137816031 [GRCh38]
Chr9:140710483 [GRCh37]
Chr9:9q34.3
likely pathogenic
NM_024757.5(EHMT1):c.1237G>A (p.Glu413Lys) single nucleotide variant Intellectual disability [RCV001260700] Chr9:137752397 [GRCh38]
Chr9:140646849 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.3578G>A (p.Gly1193Glu) single nucleotide variant Kleefstra syndrome 1 [RCV001260911] Chr9:137834386 [GRCh38]
Chr9:140728838 [GRCh37]
Chr9:9q34.3
likely pathogenic
NM_024757.5(EHMT1):c.2498del (p.Asp833fs) deletion not provided [RCV001311048] Chr9:137790963 [GRCh38]
Chr9:140685415 [GRCh37]
Chr9:9q34.3
pathogenic
NM_024757.5(EHMT1):c.2530C>T (p.His844Tyr) single nucleotide variant Kleefstra syndrome 1 [RCV001261280] Chr9:137798837 [GRCh38]
Chr9:140693289 [GRCh37]
Chr9:9q34.3
likely pathogenic
NM_024757.5(EHMT1):c.3455_3458del (p.Val1152fs) deletion Intellectual disability [RCV001260704] Chr9:137817517..137817520 [GRCh38]
Chr9:140711969..140711972 [GRCh37]
Chr9:9q34.3
pathogenic
NM_024757.5(EHMT1):c.3271dup (p.Leu1091fs) duplication not provided [RCV001268160] Chr9:137815957..137815958 [GRCh38]
Chr9:140710409..140710410 [GRCh37]
Chr9:9q34.3
pathogenic
NM_024757.5(EHMT1):c.2649C>A (p.Tyr883Ter) single nucleotide variant Intellectual disability [RCV001260703] Chr9:137800921 [GRCh38]
Chr9:140695373 [GRCh37]
Chr9:9q34.3
pathogenic
NM_024757.5(EHMT1):c.3520del (p.Leu1174fs) deletion not provided [RCV001267977] Chr9:137818117 [GRCh38]
Chr9:140712569 [GRCh37]
Chr9:9q34.3
pathogenic
NM_024757.5(EHMT1):c.3321_3324del (p.Cys1109fs) deletion Inborn genetic diseases [RCV001267176] Chr9:137816009..137816012 [GRCh38]
Chr9:140710461..140710464 [GRCh37]
Chr9:9q34.3
pathogenic
NM_024757.5(EHMT1):c.824C>G (p.Ala275Gly) single nucleotide variant Kleefstra syndrome 1 [RCV001262492] Chr9:137743371 [GRCh38]
Chr9:140637823 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.1543C>T (p.Gln515Ter) single nucleotide variant not provided [RCV001268283] Chr9:137762716 [GRCh38]
Chr9:140657168 [GRCh37]
Chr9:9q34.3
pathogenic
NM_024757.5(EHMT1):c.1369+239dup duplication not provided [RCV001536293] Chr9:137754518..137754519 [GRCh38]
Chr9:140648970..140648971 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.3181-291T>A single nucleotide variant not provided [RCV001538479] Chr9:137814140 [GRCh38]
Chr9:140708592 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.2198del (p.Lys733fs) deletion not provided [RCV001268548] Chr9:137779639 [GRCh38]
Chr9:140674091 [GRCh37]
Chr9:9q34.3
pathogenic
NM_024757.5(EHMT1):c.3610del (p.Glu1204fs) deletion Kleefstra syndrome 1 [RCV002280019] Chr9:137834418 [GRCh38]
Chr9:140728870 [GRCh37]
Chr9:9q34.3
likely pathogenic
NM_024757.5(EHMT1):c.3577G>A (p.Gly1193Arg) single nucleotide variant Inborn genetic diseases [RCV001266944] Chr9:137834385 [GRCh38]
Chr9:140728837 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.380T>G (p.Leu127Ter) single nucleotide variant Intellectual disability [RCV001260702] Chr9:137716920 [GRCh38]
Chr9:140611372 [GRCh37]
Chr9:9q34.3
pathogenic
Single allele deletion Epilepsy [RCV001293379] Chr9:139764148..141066491 [GRCh37]
Chr9:9q34.3
pathogenic
NM_024757.5(EHMT1):c.1729G>T (p.Asp577Tyr) single nucleotide variant EHMT1-related condition [RCV003433107]|Kleefstra syndrome 1 [RCV001313924] Chr9:137775190 [GRCh38]
Chr9:140669642 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.260C>G (p.Thr87Arg) single nucleotide variant Kleefstra syndrome 1 [RCV001337898]|not provided [RCV002276696] Chr9:137716800 [GRCh38]
Chr9:140611252 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.339C>G (p.Asp113Glu) single nucleotide variant Kleefstra syndrome 1 [RCV001295876] Chr9:137716879 [GRCh38]
Chr9:140611331 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.3462-5T>G single nucleotide variant Kleefstra syndrome 1 [RCV001305093] Chr9:137818055 [GRCh38]
Chr9:140712507 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.790C>G (p.Gln264Glu) single nucleotide variant Kleefstra syndrome 1 [RCV001316142] Chr9:137728496 [GRCh38]
Chr9:140622948 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.103G>T (p.Asp35Tyr) single nucleotide variant Kleefstra syndrome 1 [RCV001308183] Chr9:137716643 [GRCh38]
Chr9:140611095 [GRCh37]
Chr9:9q34.3
likely benign|uncertain significance
NC_000009.11:g.(?_140728781)_(140729425_?)dup duplication Kleefstra syndrome 1 [RCV001305614] Chr9:140728781..140729425 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.2959A>G (p.Ser987Gly) single nucleotide variant Kleefstra syndrome 1 [RCV001280843] Chr9:137813097 [GRCh38]
Chr9:140707549 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.247G>A (p.Asp83Asn) single nucleotide variant Kleefstra syndrome 1 [RCV001342495] Chr9:137716787 [GRCh38]
Chr9:140611239 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.308C>G (p.Ala103Gly) single nucleotide variant Kleefstra syndrome 1 [RCV001316511] Chr9:137716848 [GRCh38]
Chr9:140611300 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.2T>G (p.Met1Arg) single nucleotide variant Kleefstra syndrome 1 [RCV001320717] Chr9:137619030 [GRCh38]
Chr9:140513482 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.3093C>T (p.Ser1031=) single nucleotide variant Kleefstra syndrome 1 [RCV001305763] Chr9:137813443 [GRCh38]
Chr9:140707895 [GRCh37]
Chr9:9q34.3
benign|uncertain significance
NM_024757.5(EHMT1):c.199G>C (p.Ala67Pro) single nucleotide variant Kleefstra syndrome 1 [RCV001297976]|not provided [RCV003148976] Chr9:137716739 [GRCh38]
Chr9:140611191 [GRCh37]
Chr9:9q34.3
benign|uncertain significance
NM_024757.5(EHMT1):c.634G>A (p.Val212Met) single nucleotide variant Kleefstra syndrome 1 [RCV001302337] Chr9:137717174 [GRCh38]
Chr9:140611626 [GRCh37]
Chr9:9q34.3
benign|uncertain significance
NM_024757.5(EHMT1):c.1922_1924dup (p.Thr641dup) duplication Kleefstra syndrome 1 [RCV001320915] Chr9:137776745..137776746 [GRCh38]
Chr9:140671197..140671198 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.249T>A (p.Asp83Glu) single nucleotide variant Kleefstra syndrome 1 [RCV001296929] Chr9:137716789 [GRCh38]
Chr9:140611241 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.2073C>A (p.His691Gln) single nucleotide variant Kleefstra syndrome 1 [RCV001320077] Chr9:137777936 [GRCh38]
Chr9:140672388 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.2687G>A (p.Gly896Asp) single nucleotide variant Inborn genetic diseases [RCV002456484]|Kleefstra syndrome 1 [RCV001342093] Chr9:137800959 [GRCh38]
Chr9:140695411 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.3259-9T>G single nucleotide variant Kleefstra syndrome 1 [RCV001309497] Chr9:137815938 [GRCh38]
Chr9:140710390 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.1170G>A (p.Lys390=) single nucleotide variant Kleefstra syndrome 1 [RCV001304172] Chr9:137744090 [GRCh38]
Chr9:140638542 [GRCh37]
Chr9:9q34.3
benign|uncertain significance
NM_024757.5(EHMT1):c.766C>T (p.Leu256Phe) single nucleotide variant Kleefstra syndrome 1 [RCV001326682] Chr9:137728472 [GRCh38]
Chr9:140622924 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.3143C>G (p.Ser1048Cys) single nucleotide variant Kleefstra syndrome 1 [RCV001313372] Chr9:137813493 [GRCh38]
Chr9:140707945 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.1319C>T (p.Pro440Leu) single nucleotide variant Kleefstra syndrome 1 [RCV001333221] Chr9:137754241 [GRCh38]
Chr9:140648693 [GRCh37]
Chr9:9q34.3
conflicting interpretations of pathogenicity|uncertain significance
NM_024757.5(EHMT1):c.2382+4C>T single nucleotide variant Kleefstra syndrome 1 [RCV001337266] Chr9:137782401 [GRCh38]
Chr9:140676853 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.2683A>G (p.Lys895Glu) single nucleotide variant Kleefstra syndrome 1 [RCV001324874] Chr9:137800955 [GRCh38]
Chr9:140695407 [GRCh37]
Chr9:9q34.3
likely benign|uncertain significance
NM_024757.5(EHMT1):c.266C>G (p.Thr89Ser) single nucleotide variant Kleefstra syndrome 1 [RCV001326056] Chr9:137716806 [GRCh38]
Chr9:140611258 [GRCh37]
Chr9:9q34.3
benign|uncertain significance
NM_024757.5(EHMT1):c.827G>C (p.Cys276Ser) single nucleotide variant Kleefstra syndrome 1 [RCV001351615] Chr9:137743374 [GRCh38]
Chr9:140637826 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.1688T>C (p.Met563Thr) single nucleotide variant Kleefstra syndrome 1 [RCV001302399] Chr9:137775149 [GRCh38]
Chr9:140669601 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.2557G>C (p.Glu853Gln) single nucleotide variant Kleefstra syndrome 1 [RCV001306425] Chr9:137798864 [GRCh38]
Chr9:140693316 [GRCh37]
Chr9:9q34.3
likely benign|uncertain significance
NM_024757.5(EHMT1):c.678A>C (p.Glu226Asp) single nucleotide variant Kleefstra syndrome 1 [RCV001341186] Chr9:137728384 [GRCh38]
Chr9:140622836 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.1032G>A (p.Leu344=) single nucleotide variant Kleefstra syndrome 1 [RCV001433354] Chr9:137743952 [GRCh38]
Chr9:140638404 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.643-4G>A single nucleotide variant Kleefstra syndrome 1 [RCV001422736] Chr9:137728345 [GRCh38]
Chr9:140622797 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.3654C>T (p.Asp1218=) single nucleotide variant Inborn genetic diseases [RCV002456716]|Kleefstra syndrome 1 [RCV001433838] Chr9:137834462 [GRCh38]
Chr9:140728914 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.558A>G (p.Thr186=) single nucleotide variant Kleefstra syndrome 1 [RCV001412429] Chr9:137717098 [GRCh38]
Chr9:140611550 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.1322C>A (p.Ala441Asp) single nucleotide variant Kleefstra syndrome 1 [RCV001434127] Chr9:137754244 [GRCh38]
Chr9:140648696 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.824-2del deletion Kleefstra syndrome 1 [RCV001280600]|not specified [RCV002246273] Chr9:137743369 [GRCh38]
Chr9:140637821 [GRCh37]
Chr9:9q34.3
pathogenic|likely pathogenic|benign
NM_024757.5(EHMT1):c.3325T>C (p.Cys1109Arg) single nucleotide variant Neurodevelopmental disorder [RCV001375001] Chr9:137816013 [GRCh38]
Chr9:140710465 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.2672T>C (p.Leu891Pro) single nucleotide variant not provided [RCV001786817] Chr9:137800944 [GRCh38]
Chr9:140695396 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.2250G>A (p.Glu750=) single nucleotide variant Kleefstra syndrome 1 [RCV001395165] Chr9:137779692 [GRCh38]
Chr9:140674144 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.2859C>G (p.Asp953Glu) single nucleotide variant Kleefstra syndrome 1 [RCV001358961] Chr9:137811607 [GRCh38]
Chr9:140706059 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.1A>G (p.Met1Val) single nucleotide variant Kleefstra syndrome 1 [RCV001415192] Chr9:137619029 [GRCh38]
Chr9:140513481 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.716A>G (p.Lys239Arg) single nucleotide variant Inborn genetic diseases [RCV002377510]|Kleefstra syndrome 1 [RCV001359737] Chr9:137728422 [GRCh38]
Chr9:140622874 [GRCh37]
Chr9:9q34.3
likely benign|uncertain significance
NM_024757.5(EHMT1):c.2607+7C>G single nucleotide variant Kleefstra syndrome 1 [RCV001422213] Chr9:137798921 [GRCh38]
Chr9:140693373 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.3000del (p.Asp1001fs) deletion Kleefstra syndrome 1 [RCV001333222] Chr9:137813134 [GRCh38]
Chr9:140707586 [GRCh37]
Chr9:9q34.3
pathogenic
NM_024757.5(EHMT1):c.1481T>A (p.Ile494Asn) single nucleotide variant Kleefstra syndrome 1 [RCV001302918]|not provided [RCV001311047] Chr9:137757991 [GRCh38]
Chr9:140652443 [GRCh37]
Chr9:9q34.3
likely benign|uncertain significance
NM_024757.5(EHMT1):c.114A>T (p.Ser38=) single nucleotide variant Kleefstra syndrome 1 [RCV001397271] Chr9:137716654 [GRCh38]
Chr9:140611106 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.3732G>A (p.Glu1244=) single nucleotide variant Kleefstra syndrome 1 [RCV001423170] Chr9:137834788 [GRCh38]
Chr9:140729240 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.3043G>T (p.Ala1015Ser) single nucleotide variant Kleefstra syndrome 1 [RCV001296915] Chr9:137813393 [GRCh38]
Chr9:140707845 [GRCh37]
Chr9:9q34.3
benign|uncertain significance
NM_024757.5(EHMT1):c.972G>A (p.Val324=) single nucleotide variant Kleefstra syndrome 1 [RCV001321467] Chr9:137743519 [GRCh38]
Chr9:140637971 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.592G>T (p.Val198Phe) single nucleotide variant Kleefstra syndrome 1 [RCV001314481] Chr9:137717132 [GRCh38]
Chr9:140611584 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.108A>C (p.Glu36Asp) single nucleotide variant Kleefstra syndrome 1 [RCV001301437] Chr9:137716648 [GRCh38]
Chr9:140611100 [GRCh37]
Chr9:9q34.3
benign|uncertain significance
NM_024757.5(EHMT1):c.2509G>T (p.Ala837Ser) single nucleotide variant Kleefstra syndrome 1 [RCV001364229] Chr9:137798816 [GRCh38]
Chr9:140693268 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.647C>T (p.Ala216Val) single nucleotide variant Kleefstra syndrome 1 [RCV001364230] Chr9:137728353 [GRCh38]
Chr9:140622805 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.1973A>G (p.Glu658Gly) single nucleotide variant Kleefstra syndrome 1 [RCV001316430] Chr9:137776799 [GRCh38]
Chr9:140671251 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.3606C>G (p.His1202Gln) single nucleotide variant Kleefstra syndrome 1 [RCV001323926] Chr9:137834414 [GRCh38]
Chr9:140728866 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.3418G>A (p.Val1140Met) single nucleotide variant Kleefstra syndrome 1 [RCV001323963] Chr9:137817482 [GRCh38]
Chr9:140711934 [GRCh37]
Chr9:9q34.3
likely benign|uncertain significance
NM_024757.5(EHMT1):c.520G>A (p.Ala174Thr) single nucleotide variant Kleefstra syndrome 1 [RCV001324002] Chr9:137717060 [GRCh38]
Chr9:140611512 [GRCh37]
Chr9:9q34.3
likely benign|uncertain significance
NM_024757.5(EHMT1):c.2356G>A (p.Val786Met) single nucleotide variant Inborn genetic diseases [RCV002447435]|Kleefstra syndrome 1 [RCV001350973] Chr9:137782371 [GRCh38]
Chr9:140676823 [GRCh37]
Chr9:9q34.3
likely benign|uncertain significance
NM_024757.5(EHMT1):c.2382+3G>A single nucleotide variant Kleefstra syndrome 1 [RCV001297189] Chr9:137782400 [GRCh38]
Chr9:140676852 [GRCh37]
Chr9:9q34.3
benign|uncertain significance
NM_024757.5(EHMT1):c.2047G>A (p.Asp683Asn) single nucleotide variant Kleefstra syndrome 1 [RCV001309724] Chr9:137777910 [GRCh38]
Chr9:140672362 [GRCh37]
Chr9:9q34.3
likely benign|uncertain significance
NM_024757.5(EHMT1):c.173G>T (p.Cys58Phe) single nucleotide variant Kleefstra syndrome 1 [RCV001343814] Chr9:137716713 [GRCh38]
Chr9:140611165 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.3715G>A (p.Gly1239Arg) single nucleotide variant Kleefstra syndrome 1 [RCV001343815] Chr9:137834523 [GRCh38]
Chr9:140728975 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.3765C>G (p.Ser1255Arg) single nucleotide variant Kleefstra syndrome 1 [RCV001320358] Chr9:137834821 [GRCh38]
Chr9:140729273 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.1597del (p.Thr533fs) deletion Kleefstra syndrome 1 [RCV001280838] Chr9:137762770 [GRCh38]
Chr9:140657222 [GRCh37]
Chr9:9q34.3
pathogenic
NM_024757.5(EHMT1):c.3395G>A (p.Arg1132Gln) single nucleotide variant Kleefstra syndrome 1 [RCV001363079]|not provided [RCV001564382] Chr9:137817459 [GRCh38]
Chr9:140711911 [GRCh37]
Chr9:9q34.3
likely benign|uncertain significance
NM_024757.5(EHMT1):c.2980G>A (p.Ala994Thr) single nucleotide variant Kleefstra syndrome 1 [RCV001363134] Chr9:137813118 [GRCh38]
Chr9:140707570 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.982G>A (p.Gly328Arg) single nucleotide variant Kleefstra syndrome 1 [RCV001372355] Chr9:137743902 [GRCh38]
Chr9:140638354 [GRCh37]
Chr9:9q34.3
likely benign|uncertain significance
NM_024757.5(EHMT1):c.3709C>G (p.Gln1237Glu) single nucleotide variant Kleefstra syndrome 1 [RCV001363251] Chr9:137834517 [GRCh38]
Chr9:140728969 [GRCh37]
Chr9:9q34.3
likely benign|uncertain significance
NM_024757.5(EHMT1):c.485G>T (p.Gly162Val) single nucleotide variant Kleefstra syndrome 1 [RCV001341189]|not provided [RCV002546926] Chr9:137717025 [GRCh38]
Chr9:140611477 [GRCh37]
Chr9:9q34.3
likely benign|uncertain significance
NM_024757.5(EHMT1):c.149C>G (p.Ala50Gly) single nucleotide variant Kleefstra syndrome 1 [RCV001323364] Chr9:137716689 [GRCh38]
Chr9:140611141 [GRCh37]
Chr9:9q34.3
benign|uncertain significance
NM_024757.5(EHMT1):c.3880G>A (p.Ala1294Thr) single nucleotide variant Kleefstra syndrome 1 [RCV001294684] Chr9:137834936 [GRCh38]
Chr9:140729388 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.1459C>G (p.Leu487Val) single nucleotide variant Kleefstra syndrome 1 [RCV001342959] Chr9:137757969 [GRCh38]
Chr9:140652421 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.1271A>G (p.Lys424Arg) single nucleotide variant Kleefstra syndrome 1 [RCV001344307] Chr9:137754193 [GRCh38]
Chr9:140648645 [GRCh37]
Chr9:9q34.3
benign|uncertain significance
NM_024757.5(EHMT1):c.3296C>T (p.Pro1099Leu) single nucleotide variant Kleefstra syndrome 1 [RCV001347849] Chr9:137815984 [GRCh38]
Chr9:140710436 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.422G>A (p.Ser141Asn) single nucleotide variant Kleefstra syndrome 1 [RCV001306070] Chr9:137716962 [GRCh38]
Chr9:140611414 [GRCh37]
Chr9:9q34.3
benign|uncertain significance
NM_024757.5(EHMT1):c.839T>G (p.Val280Gly) single nucleotide variant Kleefstra syndrome 1 [RCV001339406] Chr9:137743386 [GRCh38]
Chr9:140637838 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.2787G>C (p.Lys929Asn) single nucleotide variant Kleefstra syndrome 1 [RCV001345436] Chr9:137811535 [GRCh38]
Chr9:140705987 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.3646C>T (p.His1216Tyr) single nucleotide variant Kleefstra syndrome 1 [RCV001363769] Chr9:137834454 [GRCh38]
Chr9:140728906 [GRCh37]
Chr9:9q34.3
likely benign|uncertain significance
NM_024757.5(EHMT1):c.191G>A (p.Ser64Asn) single nucleotide variant Kleefstra syndrome 1 [RCV001315238] Chr9:137716731 [GRCh38]
Chr9:140611183 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.3221T>C (p.Met1074Thr) single nucleotide variant Kleefstra syndrome 1 [RCV001364323] Chr9:137814471 [GRCh38]
Chr9:140708923 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.1256A>G (p.Glu419Gly) single nucleotide variant Kleefstra syndrome 1 [RCV001364357] Chr9:137754178 [GRCh38]
Chr9:140648630 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.3672C>A (p.Ile1224=) single nucleotide variant Kleefstra syndrome 1 [RCV001340392] Chr9:137834480 [GRCh38]
Chr9:140728932 [GRCh37]
Chr9:9q34.3
likely benign|uncertain significance
NM_024757.5(EHMT1):c.2179C>G (p.Leu727Val) single nucleotide variant Kleefstra syndrome 1 [RCV001319676] Chr9:137778042 [GRCh38]
Chr9:140672494 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.2063C>T (p.Ala688Val) single nucleotide variant Kleefstra syndrome 1 [RCV001325216] Chr9:137777926 [GRCh38]
Chr9:140672378 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.2400C>T (p.Asp800=) single nucleotide variant Kleefstra syndrome 1 [RCV001413652] Chr9:137790865 [GRCh38]
Chr9:140685317 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.755C>T (p.Pro252Leu) single nucleotide variant Kleefstra syndrome 1 [RCV001352351] Chr9:137728461 [GRCh38]
Chr9:140622913 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.1321_1322delinsAA (p.Ala441Asn) indel Kleefstra syndrome 1 [RCV001337834] Chr9:137754243..137754244 [GRCh38]
Chr9:140648695..140648696 [GRCh37]
Chr9:9q34.3
uncertain significance
GRCh37/hg19 9q34.3(chr9:139284464-141018984) copy number loss Cryptorchidism [RCV001352666] Chr9:139284464..141018984 [GRCh37]
Chr9:9q34.3
pathogenic
NM_024757.5(EHMT1):c.1502-2A>G single nucleotide variant Kleefstra syndrome 1 [RCV001353178] Chr9:137762673 [GRCh38]
Chr9:140657125 [GRCh37]
Chr9:9q34.3
pathogenic
NM_024757.5(EHMT1):c.1036A>T (p.Met346Leu) single nucleotide variant Kleefstra syndrome 1 [RCV001369559] Chr9:137743956 [GRCh38]
Chr9:140638408 [GRCh37]
Chr9:9q34.3
benign|uncertain significance
NM_024757.5(EHMT1):c.9C>A (p.Ala3=) single nucleotide variant Kleefstra syndrome 1 [RCV001369151] Chr9:137619037 [GRCh38]
Chr9:140513489 [GRCh37]
Chr9:9q34.3
likely benign|uncertain significance
NM_024757.5(EHMT1):c.2641A>G (p.Thr881Ala) single nucleotide variant Kleefstra syndrome 1 [RCV001349101] Chr9:137800913 [GRCh38]
Chr9:140695365 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.370G>A (p.Gly124Arg) single nucleotide variant Kleefstra syndrome 1 [RCV001365612] Chr9:137716910 [GRCh38]
Chr9:140611362 [GRCh37]
Chr9:9q34.3
likely benign|uncertain significance
NM_024757.5(EHMT1):c.3672C>T (p.Ile1224=) single nucleotide variant Kleefstra syndrome 1 [RCV001421858] Chr9:137834480 [GRCh38]
Chr9:140728932 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.3258+9G>A single nucleotide variant Kleefstra syndrome 1 [RCV001396341] Chr9:137814517 [GRCh38]
Chr9:140708969 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.1511A>G (p.Asn504Ser) single nucleotide variant Kleefstra syndrome 1 [RCV001304432]|not provided [RCV001815536] Chr9:137762684 [GRCh38]
Chr9:140657136 [GRCh37]
Chr9:9q34.3
likely benign|uncertain significance
NM_024757.5(EHMT1):c.2382+10C>T single nucleotide variant Kleefstra syndrome 1 [RCV001317460] Chr9:137782407 [GRCh38]
Chr9:140676859 [GRCh37]
Chr9:9q34.3
benign|uncertain significance
NM_024757.5(EHMT1):c.1870G>T (p.Ala624Ser) single nucleotide variant Inborn genetic diseases [RCV003246836]|Kleefstra syndrome 1 [RCV001295109] Chr9:137776696 [GRCh38]
Chr9:140671148 [GRCh37]
Chr9:9q34.3
likely benign|uncertain significance
NM_024757.5(EHMT1):c.2193-7C>T single nucleotide variant Kleefstra syndrome 1 [RCV001412428] Chr9:137779628 [GRCh38]
Chr9:140674080 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.1468C>G (p.Arg490Gly) single nucleotide variant Kleefstra syndrome 1 [RCV001294455] Chr9:137757978 [GRCh38]
Chr9:140652430 [GRCh37]
Chr9:9q34.3
benign|uncertain significance
NM_024757.5(EHMT1):c.337G>A (p.Asp113Asn) single nucleotide variant Kleefstra syndrome 1 [RCV001518622] Chr9:137716877 [GRCh38]
Chr9:140611329 [GRCh37]
Chr9:9q34.3
benign
NM_024757.5(EHMT1):c.3360A>G (p.Val1120=) single nucleotide variant Kleefstra syndrome 1 [RCV001485389] Chr9:137816048 [GRCh38]
Chr9:140710500 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.3141G>A (p.Thr1047=) single nucleotide variant Kleefstra syndrome 1 [RCV001473281] Chr9:137813491 [GRCh38]
Chr9:140707943 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.2334C>T (p.His778=) single nucleotide variant Inborn genetic diseases [RCV002456872]|Kleefstra syndrome 1 [RCV001490546]|not provided [RCV001555673] Chr9:137782349 [GRCh38]
Chr9:140676801 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.1413G>A (p.Thr471=) single nucleotide variant Kleefstra syndrome 1 [RCV001499381] Chr9:137757923 [GRCh38]
Chr9:140652375 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.597G>A (p.Lys199=) single nucleotide variant Kleefstra syndrome 1 [RCV001464425] Chr9:137717137 [GRCh38]
Chr9:140611589 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.228C>T (p.Ser76=) single nucleotide variant Kleefstra syndrome 1 [RCV001487702] Chr9:137716768 [GRCh38]
Chr9:140611220 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.2856C>T (p.Tyr952=) single nucleotide variant Kleefstra syndrome 1 [RCV001487729] Chr9:137811604 [GRCh38]
Chr9:140706056 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.2106T>C (p.Ala702=) single nucleotide variant Kleefstra syndrome 1 [RCV001492450] Chr9:137777969 [GRCh38]
Chr9:140672421 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.1647+9G>C single nucleotide variant Kleefstra syndrome 1 [RCV001479835] Chr9:137762829 [GRCh38]
Chr9:140657281 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.3819T>C (p.Arg1273=) single nucleotide variant Kleefstra syndrome 1 [RCV001468753] Chr9:137834875 [GRCh38]
Chr9:140729327 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.129A>G (p.Ala43=) single nucleotide variant Kleefstra syndrome 1 [RCV001438870] Chr9:137716669 [GRCh38]
Chr9:140611121 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.777G>A (p.Ser259=) single nucleotide variant Kleefstra syndrome 1 [RCV001461789] Chr9:137728483 [GRCh38]
Chr9:140622935 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.2094A>G (p.Pro698=) single nucleotide variant Kleefstra syndrome 1 [RCV001431143] Chr9:137777957 [GRCh38]
Chr9:140672409 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.1308C>T (p.Pro436=) single nucleotide variant Kleefstra syndrome 1 [RCV001471644] Chr9:137754230 [GRCh38]
Chr9:140648682 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.229G>A (p.Ala77Thr) single nucleotide variant Kleefstra syndrome 1 [RCV001517467] Chr9:137716769 [GRCh38]
Chr9:140611221 [GRCh37]
Chr9:9q34.3
benign
NM_024757.5(EHMT1):c.2158T>C (p.Leu720=) single nucleotide variant Kleefstra syndrome 1 [RCV001475692] Chr9:137778021 [GRCh38]
Chr9:140672473 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.1496C>T (p.Ala499Val) single nucleotide variant Inborn genetic diseases [RCV003346588]|Kleefstra syndrome 1 [RCV001512308] Chr9:137758006 [GRCh38]
Chr9:140652458 [GRCh37]
Chr9:9q34.3
benign|likely benign
NM_024757.5(EHMT1):c.3054C>T (p.Tyr1018=) single nucleotide variant Kleefstra syndrome 1 [RCV001429049] Chr9:137813404 [GRCh38]
Chr9:140707856 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.3861C>T (p.Pro1287=) single nucleotide variant Kleefstra syndrome 1 [RCV001472121] Chr9:137834917 [GRCh38]
Chr9:140729369 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.3606C>T (p.His1202=) single nucleotide variant Kleefstra syndrome 1 [RCV001501571] Chr9:137834414 [GRCh38]
Chr9:140728866 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.2337C>T (p.Ala779=) single nucleotide variant Kleefstra syndrome 1 [RCV001393540] Chr9:137782352 [GRCh38]
Chr9:140676804 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.3716+10G>A single nucleotide variant Kleefstra syndrome 1 [RCV001472514] Chr9:137834534 [GRCh38]
Chr9:140728986 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.3022A>C (p.Arg1008=) single nucleotide variant Kleefstra syndrome 1 [RCV001501758]|not provided [RCV001576813] Chr9:137813160 [GRCh38]
Chr9:140707612 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.21+30_21+40dup duplication Kleefstra syndrome 1 [RCV001504922] Chr9:137619068..137619069 [GRCh38]
Chr9:140513520..140513521 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.2925C>T (p.Pro975=) single nucleotide variant Kleefstra syndrome 1 [RCV001470818]|not specified [RCV001820165] Chr9:137813063 [GRCh38]
Chr9:140707515 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.50_85+60del deletion Kleefstra syndrome 1 [RCV001379770] Chr9:137710993..137711088 [GRCh38]
Chr9:140605445..140605540 [GRCh37]
Chr9:9q34.3
likely pathogenic
NM_024757.5(EHMT1):c.1299C>A (p.Thr433=) single nucleotide variant Kleefstra syndrome 1 [RCV001457144] Chr9:137754221 [GRCh38]
Chr9:140648673 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.86-5G>T single nucleotide variant Kleefstra syndrome 1 [RCV001393692] Chr9:137716621 [GRCh38]
Chr9:140611073 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.981+9C>A single nucleotide variant Kleefstra syndrome 1 [RCV001393834] Chr9:137743537 [GRCh38]
Chr9:140637989 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.2442C>G (p.Ala814=) single nucleotide variant Kleefstra syndrome 1 [RCV001429875] Chr9:137790907 [GRCh38]
Chr9:140685359 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.332C>T (p.Ala111Val) single nucleotide variant Kleefstra syndrome 1 [RCV001409243] Chr9:137716872 [GRCh38]
Chr9:140611324 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.3882C>T (p.Ala1294=) single nucleotide variant Kleefstra syndrome 1 [RCV001411858] Chr9:137834938 [GRCh38]
Chr9:140729390 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.322C>T (p.His108Tyr) single nucleotide variant Kleefstra syndrome 1 [RCV001411980] Chr9:137716862 [GRCh38]
Chr9:140611314 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.3309C>T (p.Phe1103=) single nucleotide variant Kleefstra syndrome 1 [RCV001439486] Chr9:137815997 [GRCh38]
Chr9:140710449 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.2577T>G (p.Leu859=) single nucleotide variant Kleefstra syndrome 1 [RCV001404473] Chr9:137798884 [GRCh38]
Chr9:140693336 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.3084C>T (p.Ala1028=) single nucleotide variant Kleefstra syndrome 1 [RCV001443739] Chr9:137813434 [GRCh38]
Chr9:140707886 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.2181C>G (p.Leu727=) single nucleotide variant Kleefstra syndrome 1 [RCV001407175] Chr9:137778044 [GRCh38]
Chr9:140672496 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.3663C>T (p.Phe1221=) single nucleotide variant Kleefstra syndrome 1 [RCV001448816] Chr9:137834471 [GRCh38]
Chr9:140728923 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.1527G>A (p.Leu509=) single nucleotide variant Kleefstra syndrome 1 [RCV001439547] Chr9:137762700 [GRCh38]
Chr9:140657152 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.2310C>T (p.His770=) single nucleotide variant Kleefstra syndrome 1 [RCV001420110] Chr9:137782325 [GRCh38]
Chr9:140676777 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.2607+181_2607+182insCTCCCACACAGAGCCAGCTTGGGCCCTCCACGGCGTCCC insertion not provided [RCV001530909] Chr9:137799088..137799089 [GRCh38]
Chr9:140693540..140693541 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.2073C>T (p.His691=) single nucleotide variant Kleefstra syndrome 1 [RCV001424880] Chr9:137777936 [GRCh38]
Chr9:140672388 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.85+10GT[3] microsatellite Kleefstra syndrome 1 [RCV001446589] Chr9:137711039..137711040 [GRCh38]
Chr9:140605491..140605492 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.1863C>G (p.Val621=) single nucleotide variant Kleefstra syndrome 1 [RCV001405242] Chr9:137776689 [GRCh38]
Chr9:140671141 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.2508C>T (p.Asp836=) single nucleotide variant Kleefstra syndrome 1 [RCV001449289] Chr9:137798815 [GRCh38]
Chr9:140693267 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.393C>T (p.Ala131=) single nucleotide variant Kleefstra syndrome 1 [RCV001438776] Chr9:137716933 [GRCh38]
Chr9:140611385 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.1692C>T (p.Arg564=) single nucleotide variant Kleefstra syndrome 1 [RCV001410272] Chr9:137775153 [GRCh38]
Chr9:140669605 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.2161del (p.Glu721fs) deletion Kleefstra syndrome 1 [RCV001390475] Chr9:137778023 [GRCh38]
Chr9:140672475 [GRCh37]
Chr9:9q34.3
pathogenic
NM_024757.5(EHMT1):c.2143C>G (p.Pro715Ala) single nucleotide variant Kleefstra syndrome 1 [RCV001408092] Chr9:137778006 [GRCh38]
Chr9:140672458 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.981+9C>T single nucleotide variant Kleefstra syndrome 1 [RCV001403385] Chr9:137743537 [GRCh38]
Chr9:140637989 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.3618C>T (p.Asn1206=) single nucleotide variant Kleefstra syndrome 1 [RCV001428963] Chr9:137834426 [GRCh38]
Chr9:140728878 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.3295C>G (p.Pro1099Ala) single nucleotide variant Kleefstra syndrome 1 [RCV001405973] Chr9:137815983 [GRCh38]
Chr9:140710435 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.3627C>T (p.Pro1209=) single nucleotide variant Kleefstra syndrome 1 [RCV001424005] Chr9:137834435 [GRCh38]
Chr9:140728887 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.21+14_21+22dup duplication Kleefstra syndrome 1 [RCV001419297] Chr9:137619056..137619057 [GRCh38]
Chr9:140513508..140513509 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.3492A>G (p.Glu1164=) single nucleotide variant Kleefstra syndrome 1 [RCV001411073] Chr9:137818090 [GRCh38]
Chr9:140712542 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.1050G>A (p.Glu350=) single nucleotide variant Kleefstra syndrome 1 [RCV001447636]|not provided [RCV002292638] Chr9:137743970 [GRCh38]
Chr9:140638422 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.894G>A (p.Leu298=) single nucleotide variant Kleefstra syndrome 1 [RCV001442793] Chr9:137743441 [GRCh38]
Chr9:140637893 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.513G>A (p.Thr171=) single nucleotide variant Kleefstra syndrome 1 [RCV001428303]|not provided [RCV001564511] Chr9:137717053 [GRCh38]
Chr9:140611505 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.2276T>G (p.Val759Gly) single nucleotide variant Kleefstra syndrome 1 [RCV001437968] Chr9:137782291 [GRCh38]
Chr9:140676743 [GRCh37]
Chr9:9q34.3
likely benign
NC_000009.11:g.(?_140513481)_(141016451_?)del deletion Kleefstra syndrome 1 [RCV001387112] Chr9:140513481..141016451 [GRCh37]
Chr9:9q34.3
pathogenic
NC_000009.11:g.(?_140622791)_(141016451_?)del deletion Kleefstra syndrome 1 [RCV001387113] Chr9:140622791..141016451 [GRCh37]
Chr9:9q34.3
pathogenic
NC_000009.11:g.(?_140646763)_(140729425_?)del deletion Kleefstra syndrome 1 [RCV001387114] Chr9:140646763..140729425 [GRCh37]
Chr9:9q34.3
pathogenic
NM_024757.5(EHMT1):c.427C>T (p.Leu143=) single nucleotide variant Kleefstra syndrome 1 [RCV001411791] Chr9:137716967 [GRCh38]
Chr9:140611419 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.2193-252G>A single nucleotide variant not provided [RCV001539771] Chr9:137779383 [GRCh38]
Chr9:140673835 [GRCh37]
Chr9:9q34.3
benign
NM_024757.5(EHMT1):c.2793C>T (p.Asp931=) single nucleotide variant Kleefstra syndrome 1 [RCV001454046] Chr9:137811541 [GRCh38]
Chr9:140705993 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.2505+277C>T single nucleotide variant not provided [RCV001610204] Chr9:137791247 [GRCh38]
Chr9:140685699 [GRCh37]
Chr9:9q34.3
benign
NM_024757.5(EHMT1):c.824-271G>A single nucleotide variant not provided [RCV001688258] Chr9:137743100 [GRCh38]
Chr9:140637552 [GRCh37]
Chr9:9q34.3
benign
NM_024757.5(EHMT1):c.3234C>T (p.Leu1078=) single nucleotide variant Kleefstra syndrome 1 [RCV001499054] Chr9:137814484 [GRCh38]
Chr9:140708936 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.1859G>A (p.Arg620Gln) single nucleotide variant Kleefstra syndrome 1 [RCV002568252]|not provided [RCV001541212] Chr9:137776685 [GRCh38]
Chr9:140671137 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.3599A>G (p.Asn1200Ser) single nucleotide variant Kleefstra syndrome 1 [RCV002571168]|not provided [RCV001583717] Chr9:137834407 [GRCh38]
Chr9:140728859 [GRCh37]
Chr9:9q34.3
likely benign|uncertain significance
NM_024757.5(EHMT1):c.643-2A>G single nucleotide variant not provided [RCV001682682] Chr9:137728347 [GRCh38]
Chr9:140622799 [GRCh37]
Chr9:9q34.3
likely pathogenic
NM_024757.5(EHMT1):c.86-27C>G single nucleotide variant not provided [RCV001675445] Chr9:137716599 [GRCh38]
Chr9:140611051 [GRCh37]
Chr9:9q34.3
benign
NM_024757.5(EHMT1):c.1791+165C>A single nucleotide variant not provided [RCV001717237] Chr9:137775417 [GRCh38]
Chr9:140669869 [GRCh37]
Chr9:9q34.3
benign
NM_024757.5(EHMT1):c.2019-74T>A single nucleotide variant not provided [RCV001648938] Chr9:137777808 [GRCh38]
Chr9:140672260 [GRCh37]
Chr9:9q34.3
benign
NM_024757.5(EHMT1):c.3462-188T>C single nucleotide variant not provided [RCV001717328] Chr9:137817872 [GRCh38]
Chr9:140712324 [GRCh37]
Chr9:9q34.3
benign
NM_024757.5(EHMT1):c.246G>A (p.Gln82=) single nucleotide variant Kleefstra syndrome 1 [RCV001475858] Chr9:137716786 [GRCh38]
Chr9:140611238 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.3258+143G>A single nucleotide variant not provided [RCV001651437] Chr9:137814651 [GRCh38]
Chr9:140709103 [GRCh37]
Chr9:9q34.3
benign
NM_024757.5(EHMT1):c.891C>T (p.Ser297=) single nucleotide variant Kleefstra syndrome 1 [RCV001458638]|not provided [RCV001675994] Chr9:137743438 [GRCh38]
Chr9:140637890 [GRCh37]
Chr9:9q34.3
benign|likely benign
NM_024757.5(EHMT1):c.276G>T (p.Ala92=) single nucleotide variant Kleefstra syndrome 1 [RCV001476169] Chr9:137716816 [GRCh38]
Chr9:140611268 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.829T>C (p.Leu277=) single nucleotide variant Kleefstra syndrome 1 [RCV001458832] Chr9:137743376 [GRCh38]
Chr9:140637828 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.981+65C>T single nucleotide variant not provided [RCV001717238] Chr9:137743593 [GRCh38]
Chr9:140638045 [GRCh37]
Chr9:9q34.3
benign
NM_024757.5(EHMT1):c.3258+180G>A single nucleotide variant not provided [RCV001717329] Chr9:137814688 [GRCh38]
Chr9:140709140 [GRCh37]
Chr9:9q34.3
benign
NM_024757.5(EHMT1):c.1501+148T>C single nucleotide variant not provided [RCV001643354] Chr9:137758159 [GRCh38]
Chr9:140652611 [GRCh37]
Chr9:9q34.3
benign
NM_024757.5(EHMT1):c.1161C>T (p.Arg387=) single nucleotide variant Kleefstra syndrome 1 [RCV001458815] Chr9:137744081 [GRCh38]
Chr9:140638533 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.1125C>G (p.Ser375Arg) single nucleotide variant Kleefstra syndrome 1 [RCV001516121] Chr9:137744045 [GRCh38]
Chr9:140638497 [GRCh37]
Chr9:9q34.3
benign
NM_024757.5(EHMT1):c.3195C>T (p.Ile1065=) single nucleotide variant Kleefstra syndrome 1 [RCV001465359] Chr9:137814445 [GRCh38]
Chr9:140708897 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.2712+23G>A single nucleotide variant not provided [RCV001695788] Chr9:137801007 [GRCh38]
Chr9:140695459 [GRCh37]
Chr9:9q34.3
benign
NM_024757.5(EHMT1):c.2868-51C>T single nucleotide variant not provided [RCV001717322] Chr9:137812955 [GRCh38]
Chr9:140707407 [GRCh37]
Chr9:9q34.3
benign
NM_024757.5(EHMT1):c.642+112G>A single nucleotide variant not provided [RCV001593518] Chr9:137717294 [GRCh38]
Chr9:140611746 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.85+194G>A single nucleotide variant not provided [RCV001667324] Chr9:137711224 [GRCh38]
Chr9:140605676 [GRCh37]
Chr9:9q34.3
benign
NM_024757.5(EHMT1):c.3717-6C>G single nucleotide variant Kleefstra syndrome 1 [RCV001516798] Chr9:137834767 [GRCh38]
Chr9:140729219 [GRCh37]
Chr9:9q34.3
benign
NM_024757.5(EHMT1):c.2196C>T (p.Pro732=) single nucleotide variant Kleefstra syndrome 1 [RCV001500675] Chr9:137779638 [GRCh38]
Chr9:140674090 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.2820C>T (p.Asp940=) single nucleotide variant Kleefstra syndrome 1 [RCV001503775]|not provided [RCV001540603] Chr9:137811568 [GRCh38]
Chr9:140706020 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.3342C>T (p.Asn1114=) single nucleotide variant Kleefstra syndrome 1 [RCV001459534] Chr9:137816030 [GRCh38]
Chr9:140710482 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.520G>T (p.Ala174Ser) single nucleotide variant Kleefstra syndrome 1 [RCV001517483] Chr9:137717060 [GRCh38]
Chr9:140611512 [GRCh37]
Chr9:9q34.3
benign
NM_024757.5(EHMT1):c.591C>T (p.Asp197=) single nucleotide variant Kleefstra syndrome 1 [RCV001497120] Chr9:137717131 [GRCh38]
Chr9:140611583 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.2929C>T (p.Gln977Ter) single nucleotide variant not provided [RCV001702022] Chr9:137813067 [GRCh38]
Chr9:140707519 [GRCh37]
Chr9:9q34.3
pathogenic
NM_024757.5(EHMT1):c.2868-77A>T single nucleotide variant not provided [RCV001647759] Chr9:137812929 [GRCh38]
Chr9:140707381 [GRCh37]
Chr9:9q34.3
benign
NM_024757.5(EHMT1):c.1170+276C>G single nucleotide variant not provided [RCV001670466] Chr9:137744366 [GRCh38]
Chr9:140638818 [GRCh37]
Chr9:9q34.3
benign
NM_024757.5(EHMT1):c.1710G>A (p.Pro570=) single nucleotide variant Kleefstra syndrome 1 [RCV001477659]|not provided [RCV003438822] Chr9:137775171 [GRCh38]
Chr9:140669623 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.2019-4G>A single nucleotide variant Kleefstra syndrome 1 [RCV001460124] Chr9:137777878 [GRCh38]
Chr9:140672330 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.1792-39A>G single nucleotide variant not provided [RCV001689555] Chr9:137776579 [GRCh38]
Chr9:140671031 [GRCh37]
Chr9:9q34.3
benign
NM_024757.5(EHMT1):c.2607+181_2607+182insCTCCCACACAGAGCCAGCTCGGGCCCTCCACGGCGTCCC insertion not provided [RCV001714652] Chr9:137799088..137799089 [GRCh38]
Chr9:140693540..140693541 [GRCh37]
Chr9:9q34.3
benign
NM_024757.5(EHMT1):c.3462-40G>A single nucleotide variant not provided [RCV001652298] Chr9:137818020 [GRCh38]
Chr9:140712472 [GRCh37]
Chr9:9q34.3
benign
NM_024757.5(EHMT1):c.2607+232A>G single nucleotide variant not provided [RCV001644469] Chr9:137799146 [GRCh38]
Chr9:140693598 [GRCh37]
Chr9:9q34.3
benign
NM_024757.5(EHMT1):c.2805G>A (p.Val935=) single nucleotide variant Kleefstra syndrome 1 [RCV001456667] Chr9:137811553 [GRCh38]
Chr9:140706005 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.1536C>T (p.Asp512=) single nucleotide variant Kleefstra syndrome 1 [RCV001457129] Chr9:137762709 [GRCh38]
Chr9:140657161 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.261A>T (p.Thr87=) single nucleotide variant Kleefstra syndrome 1 [RCV001419378] Chr9:137716801 [GRCh38]
Chr9:140611253 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.1170+7G>T single nucleotide variant Kleefstra syndrome 1 [RCV001489903] Chr9:137744097 [GRCh38]
Chr9:140638549 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.1501+315G>A single nucleotide variant not provided [RCV001537557] Chr9:137758326 [GRCh38]
Chr9:140652778 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.793T>G (p.Cys265Gly) single nucleotide variant Kleefstra syndrome 1 [RCV001518472] Chr9:137728499 [GRCh38]
Chr9:140622951 [GRCh37]
Chr9:9q34.3
benign
NM_024757.5(EHMT1):c.2018+6T>G single nucleotide variant Kleefstra syndrome 1 [RCV001399530] Chr9:137776850 [GRCh38]
Chr9:140671302 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.2608-8C>T single nucleotide variant Kleefstra syndrome 1 [RCV001417137] Chr9:137800872 [GRCh38]
Chr9:140695324 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.69C>T (p.Thr23=) single nucleotide variant Kleefstra syndrome 1 [RCV001427034] Chr9:137711014 [GRCh38]
Chr9:140605466 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.2838C>T (p.Ala946=) single nucleotide variant Kleefstra syndrome 1 [RCV001459541] Chr9:137811586 [GRCh38]
Chr9:140706038 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.2825dup (p.Leu943fs) duplication Kleefstra syndrome 1 [RCV001388303] Chr9:137811571..137811572 [GRCh38]
Chr9:140706023..140706024 [GRCh37]
Chr9:9q34.3
pathogenic
NM_024757.5(EHMT1):c.3258+8C>T single nucleotide variant Kleefstra syndrome 1 [RCV001460601] Chr9:137814516 [GRCh38]
Chr9:140708968 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.2607+7C>T single nucleotide variant Kleefstra syndrome 1 [RCV001460644] Chr9:137798921 [GRCh38]
Chr9:140693373 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.3141G>T (p.Thr1047=) single nucleotide variant Kleefstra syndrome 1 [RCV001471074] Chr9:137813491 [GRCh38]
Chr9:140707943 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.2472C>T (p.Tyr824=) single nucleotide variant Kleefstra syndrome 1 [RCV001442878] Chr9:137790937 [GRCh38]
Chr9:140685389 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.1502-5G>A single nucleotide variant Kleefstra syndrome 1 [RCV001502504] Chr9:137762670 [GRCh38]
Chr9:140657122 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.2931G>A (p.Gln977=) single nucleotide variant Kleefstra syndrome 1 [RCV001477566] Chr9:137813069 [GRCh38]
Chr9:140707521 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.21+9C>T single nucleotide variant Kleefstra syndrome 1 [RCV001443043] Chr9:137619058 [GRCh38]
Chr9:140513510 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.102C>G (p.Ala34=) single nucleotide variant Inborn genetic diseases [RCV002384774]|Kleefstra syndrome 1 [RCV001478210] Chr9:137716642 [GRCh38]
Chr9:140611094 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.3316A>G (p.Asn1106Asp) single nucleotide variant Kleefstra syndrome 1 [RCV001453661] Chr9:137816004 [GRCh38]
Chr9:140710456 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.2506-7G>A single nucleotide variant Kleefstra syndrome 1 [RCV001480269] Chr9:137798806 [GRCh38]
Chr9:140693258 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.1713C>T (p.Leu571=) single nucleotide variant Kleefstra syndrome 1 [RCV001496499] Chr9:137775174 [GRCh38]
Chr9:140669626 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.999C>T (p.Gly333=) single nucleotide variant Kleefstra syndrome 1 [RCV001456060] Chr9:137743919 [GRCh38]
Chr9:140638371 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.871C>A (p.Arg291=) single nucleotide variant Kleefstra syndrome 1 [RCV001430151] Chr9:137743418 [GRCh38]
Chr9:140637870 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.1068C>T (p.Leu356=) single nucleotide variant Kleefstra syndrome 1 [RCV001499247]|not provided [RCV001566593] Chr9:137743988 [GRCh38]
Chr9:140638440 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.2655C>T (p.His885=) single nucleotide variant Kleefstra syndrome 1 [RCV001480707] Chr9:137800927 [GRCh38]
Chr9:140695379 [GRCh37]
Chr9:9q34.3
likely benign
NC_000009.11:g.(?_140605409)_(140605492_?)dup duplication Kleefstra syndrome 1 [RCV001378773] Chr9:140605409..140605492 [GRCh37]
Chr9:9q34.3
likely pathogenic
NM_024757.5(EHMT1):c.24A>G (p.Ala8=) single nucleotide variant Kleefstra syndrome 1 [RCV001441267] Chr9:137710969 [GRCh38]
Chr9:140605421 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.2396T>C (p.Ile799Thr) single nucleotide variant Inborn genetic diseases [RCV002555193]|Kleefstra syndrome 1 [RCV001435271] Chr9:137790861 [GRCh38]
Chr9:140685313 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.1965C>T (p.Pro655=) single nucleotide variant Kleefstra syndrome 1 [RCV001416719] Chr9:137776791 [GRCh38]
Chr9:140671243 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.1911C>G (p.Ala637=) single nucleotide variant Kleefstra syndrome 1 [RCV001466665] Chr9:137776737 [GRCh38]
Chr9:140671189 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.594C>G (p.Val198=) single nucleotide variant Kleefstra syndrome 1 [RCV001483995] Chr9:137717134 [GRCh38]
Chr9:140611586 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.3494C>G (p.Ala1165Gly) single nucleotide variant Kleefstra syndrome 1 [RCV001484044] Chr9:137818092 [GRCh38]
Chr9:140712544 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.3891C>T (p.Pro1297=) single nucleotide variant Kleefstra syndrome 1 [RCV001504327] Chr9:137834947 [GRCh38]
Chr9:140729399 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.1428C>T (p.Ser476=) single nucleotide variant Kleefstra syndrome 1 [RCV001419207] Chr9:137757938 [GRCh38]
Chr9:140652390 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.2382+7C>T single nucleotide variant Kleefstra syndrome 1 [RCV001416760] Chr9:137782404 [GRCh38]
Chr9:140676856 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.3489A>G (p.Ser1163=) single nucleotide variant Kleefstra syndrome 1 [RCV001479603]|not provided [RCV001581155] Chr9:137818087 [GRCh38]
Chr9:140712539 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.1104C>T (p.Ala368=) single nucleotide variant Kleefstra syndrome 1 [RCV001417106] Chr9:137744024 [GRCh38]
Chr9:140638476 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.1292_1296del (p.Gly431fs) microsatellite Kleefstra syndrome 1 [RCV002249929] Chr9:137754207..137754211 [GRCh38]
Chr9:140648659..140648663 [GRCh37]
Chr9:9q34.3
pathogenic
NM_024757.5(EHMT1):c.2018+1G>A single nucleotide variant Kleefstra syndrome 1 [RCV002249930] Chr9:137776845 [GRCh38]
Chr9:140671297 [GRCh37]
Chr9:9q34.3
pathogenic
NM_024757.5(EHMT1):c.3310G>T (p.Glu1104Ter) single nucleotide variant Kleefstra syndrome 1 [RCV002249931] Chr9:137815998 [GRCh38]
Chr9:140710450 [GRCh37]
Chr9:9q34.3
pathogenic
NM_024757.5(EHMT1):c.3459C>T (p.Cys1153=) single nucleotide variant Kleefstra syndrome 1 [RCV001726715] Chr9:137817523 [GRCh38]
Chr9:140711975 [GRCh37]
Chr9:9q34.3
conflicting interpretations of pathogenicity|uncertain significance
NM_024757.5(EHMT1):c.623C>T (p.Pro208Leu) single nucleotide variant Kleefstra syndrome 1 [RCV003108864] Chr9:137717163 [GRCh38]
Chr9:140611615 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.1106C>A (p.Ala369Glu) single nucleotide variant not provided [RCV003127089] Chr9:137744026 [GRCh38]
Chr9:140638478 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.2608-26G>A single nucleotide variant not provided [RCV001732259] Chr9:137800854 [GRCh38]
Chr9:140695306 [GRCh37]
Chr9:9q34.3
benign
NM_024757.5(EHMT1):c.2719A>G (p.Asn907Asp) single nucleotide variant not provided [RCV002284926] Chr9:137811467 [GRCh38]
Chr9:140705919 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.1474A>G (p.Lys492Glu) single nucleotide variant Autism [RCV001726714] Chr9:137757984 [GRCh38]
Chr9:140652436 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.559G>C (p.Glu187Gln) single nucleotide variant Kleefstra syndrome 1 [RCV002244241] Chr9:137717099 [GRCh38]
Chr9:140611551 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.1661C>T (p.Thr554Ile) single nucleotide variant not provided [RCV001754896] Chr9:137775122 [GRCh38]
Chr9:140669574 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.2843G>A (p.Arg948Gln) single nucleotide variant not provided [RCV001763374] Chr9:137811591 [GRCh38]
Chr9:140706043 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.1408C>T (p.Gln470Ter) single nucleotide variant not provided [RCV003237610] Chr9:137757918 [GRCh38]
Chr9:140652370 [GRCh37]
Chr9:9q34.3
pathogenic
NM_024757.5(EHMT1):c.3361C>T (p.Gln1121Ter) single nucleotide variant Kleefstra syndrome 1 [RCV001783193] Chr9:137816049 [GRCh38]
Chr9:140710501 [GRCh37]
Chr9:9q34.3
pathogenic
NM_024757.5(EHMT1):c.85+5G>A single nucleotide variant not provided [RCV001774288] Chr9:137711035 [GRCh38]
Chr9:140605487 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.1792-42C>T single nucleotide variant not provided [RCV001787540] Chr9:137776576 [GRCh38]
Chr9:140671028 [GRCh37]
Chr9:9q34.3
benign
NM_024757.5(EHMT1):c.822A>G (p.Thr274=) single nucleotide variant not provided [RCV001786861] Chr9:137728528 [GRCh38]
Chr9:140622980 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.200C>G (p.Ala67Gly) single nucleotide variant not provided [RCV001773123] Chr9:137716740 [GRCh38]
Chr9:140611192 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.1901G>T (p.Ser634Ile) single nucleotide variant not provided [RCV001752599] Chr9:137776727 [GRCh38]
Chr9:140671179 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.1745T>G (p.Met582Arg) single nucleotide variant not provided [RCV001772602] Chr9:137775206 [GRCh38]
Chr9:140669658 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.1883C>T (p.Pro628Leu) single nucleotide variant Kleefstra syndrome 1 [RCV001868474]|not provided [RCV001767394] Chr9:137776709 [GRCh38]
Chr9:140671161 [GRCh37]
Chr9:9q34.3
likely benign|uncertain significance
NM_024757.5(EHMT1):c.2791G>A (p.Asp931Asn) single nucleotide variant not provided [RCV001773023] Chr9:137811539 [GRCh38]
Chr9:140705991 [GRCh37]
Chr9:9q34.3
benign|uncertain significance
NM_024757.5(EHMT1):c.3190T>C (p.Cys1064Arg) single nucleotide variant not provided [RCV001754183] Chr9:137814440 [GRCh38]
Chr9:140708892 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.1690C>T (p.Arg564Cys) single nucleotide variant not provided [RCV001765384] Chr9:137775151 [GRCh38]
Chr9:140669603 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.949A>G (p.Lys317Glu) single nucleotide variant not provided [RCV001752655] Chr9:137743496 [GRCh38]
Chr9:140637948 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.3869G>A (p.Ser1290Asn) single nucleotide variant not provided [RCV001765594] Chr9:137834925 [GRCh38]
Chr9:140729377 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.497G>A (p.Ser166Asn) single nucleotide variant Inborn genetic diseases [RCV002544123]|Kleefstra syndrome 1 [RCV002544124]|not provided [RCV001768979] Chr9:137717037 [GRCh38]
Chr9:140611489 [GRCh37]
Chr9:9q34.3
benign|likely benign|uncertain significance
NM_024757.5(EHMT1):c.826T>C (p.Cys276Arg) single nucleotide variant not provided [RCV001753197] Chr9:137743373 [GRCh38]
Chr9:140637825 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.3833CCCAGGAGG[1] (p.1278AQE[1]) microsatellite Kleefstra syndrome 1 [RCV002540279]|not provided [RCV001770698] Chr9:137834887..137834895 [GRCh38]
Chr9:140729339..140729347 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.2016C>T (p.Gly672=) single nucleotide variant not provided [RCV001770818] Chr9:137776842 [GRCh38]
Chr9:140671294 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.887A>G (p.Tyr296Cys) single nucleotide variant not provided [RCV001760504] Chr9:137743434 [GRCh38]
Chr9:140637886 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.2544G>T (p.Lys848Asn) single nucleotide variant not provided [RCV001766898] Chr9:137798851 [GRCh38]
Chr9:140693303 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.3422G>A (p.Arg1141Gln) single nucleotide variant Kleefstra syndrome 1 [RCV001885283]|not provided [RCV001810372] Chr9:137817486 [GRCh38]
Chr9:140711938 [GRCh37]
Chr9:9q34.3
likely benign|uncertain significance
NM_024757.5(EHMT1):c.365G>T (p.Ser122Ile) single nucleotide variant not provided [RCV001794655] Chr9:137716905 [GRCh38]
Chr9:140611357 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.101C>T (p.Ala34Val) single nucleotide variant Kleefstra syndrome 1 [RCV002073978]|not provided [RCV001733266] Chr9:137716641 [GRCh38]
Chr9:140611093 [GRCh37]
Chr9:9q34.3
likely benign|uncertain significance
NM_024757.5(EHMT1):c.3716+46G>C single nucleotide variant not provided [RCV001799983] Chr9:137834570 [GRCh38]
Chr9:140729022 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.872G>A (p.Arg291Gln) single nucleotide variant not provided [RCV001757895] Chr9:137743419 [GRCh38]
Chr9:140637871 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.3717-12T>A single nucleotide variant not provided [RCV001732859] Chr9:137834761 [GRCh38]
Chr9:140729213 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.1617G>T (p.Gln539His) single nucleotide variant not provided [RCV001754286] Chr9:137762790 [GRCh38]
Chr9:140657242 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.-1C>A single nucleotide variant not provided [RCV001758676] Chr9:137619028 [GRCh38]
Chr9:140513480 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.300_305del (p.Asp100_Ser101del) deletion not specified [RCV001817723] Chr9:137716837..137716842 [GRCh38]
Chr9:140611289..140611294 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.2010A>T (p.Thr670=) single nucleotide variant Kleefstra syndrome 1 [RCV002542000]|not specified [RCV001817489] Chr9:137776836 [GRCh38]
Chr9:140671288 [GRCh37]
Chr9:9q34.3
likely benign|uncertain significance
NM_024757.5(EHMT1):c.3487T>C (p.Ser1163Pro) single nucleotide variant not provided [RCV001806509] Chr9:137818085 [GRCh38]
Chr9:140712537 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.2382+1G>A single nucleotide variant Kleefstra syndrome 1 [RCV001823438] Chr9:137782398 [GRCh38]
Chr9:140676850 [GRCh37]
Chr9:9q34.3
likely pathogenic
NM_024757.5(EHMT1):c.948T>G (p.Phe316Leu) single nucleotide variant Kleefstra syndrome 1 [RCV001929999] Chr9:137743495 [GRCh38]
Chr9:140637947 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.1382A>T (p.Tyr461Phe) single nucleotide variant Kleefstra syndrome 1 [RCV001930001] Chr9:137757892 [GRCh38]
Chr9:140652344 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.2685G>A (p.Lys895=) single nucleotide variant Kleefstra syndrome 1 [RCV001915059] Chr9:137800957 [GRCh38]
Chr9:140695409 [GRCh37]
Chr9:9q34.3
likely benign|uncertain significance
NM_024757.5(EHMT1):c.3484G>A (p.Asp1162Asn) single nucleotide variant Kleefstra syndrome 1 [RCV001987720] Chr9:137818082 [GRCh38]
Chr9:140712534 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.403C>G (p.Gln135Glu) single nucleotide variant Kleefstra syndrome 1 [RCV001874312] Chr9:137716943 [GRCh38]
Chr9:140611395 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.3619C>A (p.Leu1207Met) single nucleotide variant Kleefstra syndrome 1 [RCV002005125] Chr9:137834427 [GRCh38]
Chr9:140728879 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.40del (p.Glu14fs) deletion Kleefstra syndrome 1 [RCV001947038]|Neurodevelopmental disorder [RCV003389076]|not provided [RCV002466722] Chr9:137710980 [GRCh38]
Chr9:140605432 [GRCh37]
Chr9:9q34.3
pathogenic|uncertain significance
NM_024757.5(EHMT1):c.2936C>T (p.Ala979Val) single nucleotide variant Kleefstra syndrome 1 [RCV001928575] Chr9:137813074 [GRCh38]
Chr9:140707526 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.981+5G>A single nucleotide variant Kleefstra syndrome 1 [RCV002045209]|not provided [RCV003170545] Chr9:137743533 [GRCh38]
Chr9:140637985 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.1471G>A (p.Val491Ile) single nucleotide variant Kleefstra syndrome 1 [RCV001970894] Chr9:137757981 [GRCh38]
Chr9:140652433 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.1538G>A (p.Gly513Asp) single nucleotide variant Kleefstra syndrome 1 [RCV001987369] Chr9:137762711 [GRCh38]
Chr9:140657163 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.1997G>C (p.Arg666Thr) single nucleotide variant Kleefstra syndrome 1 [RCV002024581] Chr9:137776823 [GRCh38]
Chr9:140671275 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.1673T>C (p.Val558Ala) single nucleotide variant Kleefstra syndrome 1 [RCV002025674]|not provided [RCV003235656] Chr9:137775134 [GRCh38]
Chr9:140669586 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.2080G>A (p.Glu694Lys) single nucleotide variant Kleefstra syndrome 1 [RCV001949758] Chr9:137777943 [GRCh38]
Chr9:140672395 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.295A>G (p.Arg99Gly) single nucleotide variant Kleefstra syndrome 1 [RCV002002813] Chr9:137716835 [GRCh38]
Chr9:140611287 [GRCh37]
Chr9:9q34.3
likely benign|uncertain significance
GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389) copy number gain not specified [RCV002053823] Chr9:353349..141020389 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
NM_024757.5(EHMT1):c.1735C>T (p.Arg579Trp) single nucleotide variant Kleefstra syndrome 1 [RCV001966295] Chr9:137775196 [GRCh38]
Chr9:140669648 [GRCh37]
Chr9:9q34.3
likely benign|uncertain significance
NM_024757.5(EHMT1):c.2023G>A (p.Ala675Thr) single nucleotide variant Kleefstra syndrome 1 [RCV002006548] Chr9:137777886 [GRCh38]
Chr9:140672338 [GRCh37]
Chr9:9q34.3
uncertain significance
GRCh37/hg19 9q34.3(chr9:138740078-141020389) copy number loss not specified [RCV002052850] Chr9:138740078..141020389 [GRCh37]
Chr9:9q34.3
pathogenic
GRCh37/hg19 9q34.3(chr9:139282807-141020389) copy number loss not specified [RCV002052852] Chr9:139282807..141020389 [GRCh37]
Chr9:9q34.3
pathogenic
GRCh37/hg19 9q34.3(chr9:140620020-140854178) copy number loss not specified [RCV002052858] Chr9:140620020..140854178 [GRCh37]
Chr9:9q34.3
pathogenic
NM_024757.5(EHMT1):c.2656G>T (p.Val886Leu) single nucleotide variant Kleefstra syndrome 1 [RCV001946344]|not provided [RCV002267133] Chr9:137800928 [GRCh38]
Chr9:140695380 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.982G>C (p.Gly328Arg) single nucleotide variant Kleefstra syndrome 1 [RCV001911828] Chr9:137743902 [GRCh38]
Chr9:140638354 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.3058C>T (p.Arg1020Cys) single nucleotide variant Kleefstra syndrome 1 [RCV002004554] Chr9:137813408 [GRCh38]
Chr9:140707860 [GRCh37]
Chr9:9q34.3
likely benign|uncertain significance
NM_024757.5(EHMT1):c.1381T>C (p.Tyr461His) single nucleotide variant Kleefstra syndrome 1 [RCV001946429] Chr9:137757891 [GRCh38]
Chr9:140652343 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.601C>T (p.His201Tyr) single nucleotide variant Kleefstra syndrome 1 [RCV001945773] Chr9:137717141 [GRCh38]
Chr9:140611593 [GRCh37]
Chr9:9q34.3
uncertain significance
GRCh37/hg19 9q34.3(chr9:140475437-141020389)x3 copy number gain not provided [RCV001829215] Chr9:140475437..141020389 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.3670A>G (p.Ile1224Val) single nucleotide variant Kleefstra syndrome 1 [RCV002002888] Chr9:137834478 [GRCh38]
Chr9:140728930 [GRCh37]
Chr9:9q34.3
uncertain significance
GRCh37/hg19 9q34.3(chr9:140230197-140893129) copy number gain not specified [RCV002052855] Chr9:140230197..140893129 [GRCh37]
Chr9:9q34.3
uncertain significance
GRCh37/hg19 9q34.3(chr9:140493726-140766254) copy number gain not specified [RCV002052857] Chr9:140493726..140766254 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.2842C>T (p.Arg948Trp) single nucleotide variant Kleefstra syndrome 1 [RCV002004827] Chr9:137811590 [GRCh38]
Chr9:140706042 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.784C>T (p.Gln262Ter) single nucleotide variant Kleefstra syndrome 1 [RCV002039841] Chr9:137728490 [GRCh38]
Chr9:140622942 [GRCh37]
Chr9:9q34.3
pathogenic
NM_024757.5(EHMT1):c.3482C>G (p.Ser1161Ter) single nucleotide variant Kleefstra syndrome 1 [RCV001891292] Chr9:137818080 [GRCh38]
Chr9:140712532 [GRCh37]
Chr9:9q34.3
pathogenic
NM_024757.5(EHMT1):c.3838G>C (p.Glu1280Gln) single nucleotide variant Kleefstra syndrome 1 [RCV002041790] Chr9:137834894 [GRCh38]
Chr9:140729346 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.2756T>A (p.Val919Glu) single nucleotide variant Inborn genetic diseases [RCV003269103]|Kleefstra syndrome 1 [RCV002023750] Chr9:137811504 [GRCh38]
Chr9:140705956 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.1982C>T (p.Ser661Leu) single nucleotide variant Kleefstra syndrome 1 [RCV001913669] Chr9:137776808 [GRCh38]
Chr9:140671260 [GRCh37]
Chr9:9q34.3
likely benign|uncertain significance
NM_024757.5(EHMT1):c.223G>C (p.Asp75His) single nucleotide variant Kleefstra syndrome 1 [RCV002040534] Chr9:137716763 [GRCh38]
Chr9:140611215 [GRCh37]
Chr9:9q34.3
benign|uncertain significance
GRCh37/hg19 9q34.3(chr9:140043049-141020389) copy number loss not specified [RCV002052854] Chr9:140043049..141020389 [GRCh37]
Chr9:9q34.3
pathogenic
GRCh37/hg19 9q34.3(chr9:140694542-140918479)x1 copy number loss not provided [RCV001827771] Chr9:140694542..140918479 [GRCh37]
Chr9:9q34.3
pathogenic
NM_024757.5(EHMT1):c.21+3G>T single nucleotide variant Kleefstra syndrome 1 [RCV001891739] Chr9:137619052 [GRCh38]
Chr9:140513504 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.439C>G (p.Leu147Val) single nucleotide variant Kleefstra syndrome 1 [RCV001966711] Chr9:137716979 [GRCh38]
Chr9:140611431 [GRCh37]
Chr9:9q34.3
likely benign|uncertain significance
NM_024757.5(EHMT1):c.1544A>G (p.Gln515Arg) single nucleotide variant Kleefstra syndrome 1 [RCV002040810] Chr9:137762717 [GRCh38]
Chr9:140657169 [GRCh37]
Chr9:9q34.3
uncertain significance
GRCh37/hg19 9q34.3(chr9:140357902-140602791)x3 copy number gain not provided [RCV001829161] Chr9:140357902..140602791 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.680C>A (p.Ala227Asp) single nucleotide variant Kleefstra syndrome 1 [RCV001948966] Chr9:137728386 [GRCh38]
Chr9:140622838 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.1604T>C (p.Leu535Pro) single nucleotide variant Kleefstra syndrome 1 [RCV002003097] Chr9:137762777 [GRCh38]
Chr9:140657229 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.578C>T (p.Ala193Val) single nucleotide variant not provided [RCV001843655] Chr9:137717118 [GRCh38]
Chr9:140611570 [GRCh37]
Chr9:9q34.3
likely benign|uncertain significance
NC_000009.12:g.137661384_137714409del deletion Kleefstra syndrome 1 [RCV001837194] Chr9:137661384..137714409 [GRCh38]
Chr9:9q34.3
likely pathogenic
NM_024757.5(EHMT1):c.818A>G (p.Gln273Arg) single nucleotide variant Kleefstra syndrome 1 [RCV001890466] Chr9:137728524 [GRCh38]
Chr9:140622976 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.2614G>A (p.Gly872Arg) single nucleotide variant Kleefstra syndrome 1 [RCV001891858] Chr9:137800886 [GRCh38]
Chr9:140695338 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.1667G>A (p.Ser556Asn) single nucleotide variant Kleefstra syndrome 1 [RCV001967029] Chr9:137775128 [GRCh38]
Chr9:140669580 [GRCh37]
Chr9:9q34.3
likely benign|uncertain significance
NM_024757.5(EHMT1):c.104A>G (p.Asp35Gly) single nucleotide variant Kleefstra syndrome 1 [RCV001986319] Chr9:137716644 [GRCh38]
Chr9:140611096 [GRCh37]
Chr9:9q34.3
likely benign|uncertain significance
NM_024757.5(EHMT1):c.42G>C (p.Glu14Asp) single nucleotide variant Inborn genetic diseases [RCV002331414]|Kleefstra syndrome 1 [RCV001927566] Chr9:137710987 [GRCh38]
Chr9:140605439 [GRCh37]
Chr9:9q34.3
benign|likely benign|uncertain significance
NM_024757.5(EHMT1):c.2192+13_2192+14del deletion Kleefstra syndrome 1 [RCV001893525] Chr9:137778068..137778069 [GRCh38]
Chr9:140672520..140672521 [GRCh37]
Chr9:9q34.3
benign|uncertain significance
NM_024757.5(EHMT1):c.145G>A (p.Ala49Thr) single nucleotide variant Kleefstra syndrome 1 [RCV001891034] Chr9:137716685 [GRCh38]
Chr9:140611137 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.258C>G (p.Asn86Lys) single nucleotide variant Kleefstra syndrome 1 [RCV001948012] Chr9:137716798 [GRCh38]
Chr9:140611250 [GRCh37]
Chr9:9q34.3
likely benign|uncertain significance
NM_024757.5(EHMT1):c.350C>G (p.Thr117Ser) single nucleotide variant Kleefstra syndrome 1 [RCV001984686] Chr9:137716890 [GRCh38]
Chr9:140611342 [GRCh37]
Chr9:9q34.3
benign|uncertain significance
NM_024757.5(EHMT1):c.3541-6C>G single nucleotide variant Kleefstra syndrome 1 [RCV001943976] Chr9:137834343 [GRCh38]
Chr9:140728795 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.3157G>A (p.Asp1053Asn) single nucleotide variant Kleefstra syndrome 1 [RCV002031049] Chr9:137813507 [GRCh38]
Chr9:140707959 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.3493G>A (p.Ala1165Thr) single nucleotide variant Kleefstra syndrome 1 [RCV001998080] Chr9:137818091 [GRCh38]
Chr9:140712543 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.1820G>C (p.Ser607Thr) single nucleotide variant Kleefstra syndrome 1 [RCV002051191] Chr9:137776646 [GRCh38]
Chr9:140671098 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.1570A>T (p.Met524Leu) single nucleotide variant Kleefstra syndrome 1 [RCV001883258] Chr9:137762743 [GRCh38]
Chr9:140657195 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.799A>C (p.Met267Leu) single nucleotide variant Kleefstra syndrome 1 [RCV001876818] Chr9:137728505 [GRCh38]
Chr9:140622957 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.162del (p.Asn55fs) deletion Kleefstra syndrome 1 [RCV001940866] Chr9:137716701 [GRCh38]
Chr9:140611153 [GRCh37]
Chr9:9q34.3
pathogenic
NM_024757.5(EHMT1):c.808A>G (p.Thr270Ala) single nucleotide variant Kleefstra syndrome 1 [RCV002000650] Chr9:137728514 [GRCh38]
Chr9:140622966 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.3579del (p.Asn1194fs) deletion Kleefstra syndrome 1 [RCV001941593] Chr9:137834385 [GRCh38]
Chr9:140728837 [GRCh37]
Chr9:9q34.3
pathogenic
NM_024757.5(EHMT1):c.170C>G (p.Ser57Cys) single nucleotide variant Kleefstra syndrome 1 [RCV001972245] Chr9:137716710 [GRCh38]
Chr9:140611162 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.587C>T (p.Ala196Val) single nucleotide variant Kleefstra syndrome 1 [RCV001962240] Chr9:137717127 [GRCh38]
Chr9:140611579 [GRCh37]
Chr9:9q34.3
likely benign|uncertain significance
NM_024757.5(EHMT1):c.2059G>A (p.Gly687Ser) single nucleotide variant Kleefstra syndrome 1 [RCV001883839]|not provided [RCV002260710] Chr9:137777922 [GRCh38]
Chr9:140672374 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.2093C>T (p.Pro698Leu) single nucleotide variant Kleefstra syndrome 1 [RCV001875679] Chr9:137777956 [GRCh38]
Chr9:140672408 [GRCh37]
Chr9:9q34.3
benign|uncertain significance
NM_024757.5(EHMT1):c.2857G>T (p.Asp953Tyr) single nucleotide variant Kleefstra syndrome 1 [RCV001977941] Chr9:137811605 [GRCh38]
Chr9:140706057 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.233G>T (p.Arg78Met) single nucleotide variant Kleefstra syndrome 1 [RCV001897626] Chr9:137716773 [GRCh38]
Chr9:140611225 [GRCh37]
Chr9:9q34.3
likely benign|uncertain significance
NM_024757.5(EHMT1):c.3595A>G (p.Ile1199Val) single nucleotide variant Kleefstra syndrome 1 [RCV002011505] Chr9:137834403 [GRCh38]
Chr9:140728855 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.679G>A (p.Ala227Thr) single nucleotide variant Kleefstra syndrome 1 [RCV001882139] Chr9:137728385 [GRCh38]
Chr9:140622837 [GRCh37]
Chr9:9q34.3
benign|uncertain significance
NM_024757.5(EHMT1):c.2665G>A (p.Val889Met) single nucleotide variant Inborn genetic diseases [RCV002641988]|Kleefstra syndrome 1 [RCV001989645] Chr9:137800937 [GRCh38]
Chr9:140695389 [GRCh37]
Chr9:9q34.3
likely benign|uncertain significance
NM_024757.5(EHMT1):c.1922C>T (p.Thr641Met) single nucleotide variant Kleefstra syndrome 1 [RCV001956954] Chr9:137776748 [GRCh38]
Chr9:140671200 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.2712+2dup duplication Kleefstra syndrome 1 [RCV002010297] Chr9:137800985..137800986 [GRCh38]
Chr9:140695437..140695438 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.483A>T (p.Lys161Asn) single nucleotide variant Kleefstra syndrome 1 [RCV001976735] Chr9:137717023 [GRCh38]
Chr9:140611475 [GRCh37]
Chr9:9q34.3
likely benign|uncertain significance
NM_024757.5(EHMT1):c.2716G>A (p.Glu906Lys) single nucleotide variant Kleefstra syndrome 1 [RCV001931175] Chr9:137811464 [GRCh38]
Chr9:140705916 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.632T>C (p.Val211Ala) single nucleotide variant EHMT1-related condition [RCV003407992]|Inborn genetic diseases [RCV002562880]|Kleefstra syndrome 1 [RCV001955824]|not provided [RCV003438905] Chr9:137717172 [GRCh38]
Chr9:140611624 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.3352C>G (p.Arg1118Gly) single nucleotide variant Kleefstra syndrome 1 [RCV002030719] Chr9:137816040 [GRCh38]
Chr9:140710492 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.3850G>A (p.Asp1284Asn) single nucleotide variant Inborn genetic diseases [RCV002361396]|Kleefstra syndrome 1 [RCV002014426] Chr9:137834906 [GRCh38]
Chr9:140729358 [GRCh37]
Chr9:9q34.3
likely benign|uncertain significance
NM_024757.5(EHMT1):c.3393C>A (p.Tyr1131Ter) single nucleotide variant Kleefstra syndrome 1 [RCV001900886] Chr9:137817457 [GRCh38]
Chr9:140711909 [GRCh37]
Chr9:9q34.3
pathogenic
NM_024757.5(EHMT1):c.105T>G (p.Asp35Glu) single nucleotide variant Kleefstra syndrome 1 [RCV002026191]|not provided [RCV002243509] Chr9:137716645 [GRCh38]
Chr9:140611097 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.3462G>A (p.Glu1154=) single nucleotide variant Kleefstra syndrome 1 [RCV001991728] Chr9:137818060 [GRCh38]
Chr9:140712512 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.77T>C (p.Leu26Pro) single nucleotide variant Kleefstra syndrome 1 [RCV001990584] Chr9:137711022 [GRCh38]
Chr9:140605474 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.1195_1197del (p.Gln399del) deletion Kleefstra syndrome 1 [RCV001977214] Chr9:137752353..137752355 [GRCh38]
Chr9:140646805..140646807 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.3887_*10dup (p.Ala1294_Ter1299=) duplication Kleefstra syndrome 1 [RCV002027911] Chr9:137834935..137834936 [GRCh38]
Chr9:140729387..140729388 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.2077C>T (p.Pro693Ser) single nucleotide variant Inborn genetic diseases [RCV003269119]|Kleefstra syndrome 1 [RCV002050280] Chr9:137777940 [GRCh38]
Chr9:140672392 [GRCh37]
Chr9:9q34.3
likely benign|uncertain significance
NM_024757.5(EHMT1):c.2382+15C>T single nucleotide variant Kleefstra syndrome 1 [RCV002016072] Chr9:137782412 [GRCh38]
Chr9:140676864 [GRCh37]
Chr9:9q34.3
likely benign|uncertain significance
NM_024757.5(EHMT1):c.1736G>A (p.Arg579Gln) single nucleotide variant Kleefstra syndrome 1 [RCV001882107] Chr9:137775197 [GRCh38]
Chr9:140669649 [GRCh37]
Chr9:9q34.3
likely benign|uncertain significance
NM_024757.5(EHMT1):c.7G>A (p.Ala3Thr) single nucleotide variant Kleefstra syndrome 1 [RCV001933637]|not provided [RCV002466715] Chr9:137619035 [GRCh38]
Chr9:140513487 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.2607+4C>T single nucleotide variant Kleefstra syndrome 1 [RCV001998147] Chr9:137798918 [GRCh38]
Chr9:140693370 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.1043C>T (p.Ser348Leu) single nucleotide variant Kleefstra syndrome 1 [RCV001901750] Chr9:137743963 [GRCh38]
Chr9:140638415 [GRCh37]
Chr9:9q34.3
likely benign|uncertain significance
NM_024757.5(EHMT1):c.40G>C (p.Glu14Gln) single nucleotide variant Inborn genetic diseases [RCV002548089]|Kleefstra syndrome 1 [RCV001905135] Chr9:137710985 [GRCh38]
Chr9:140605437 [GRCh37]
Chr9:9q34.3
likely benign|uncertain significance
NM_024757.5(EHMT1):c.1438A>T (p.Met480Leu) single nucleotide variant Kleefstra syndrome 1 [RCV001885668] Chr9:137757948 [GRCh38]
Chr9:140652400 [GRCh37]
Chr9:9q34.3
uncertain significance
NC_000009.11:g.(?_140513481)_(140513521_?)del deletion Kleefstra syndrome 1 [RCV001959094] Chr9:140513481..140513521 [GRCh37]
Chr9:9q34.3
pathogenic
NM_024757.5(EHMT1):c.1077C>T (p.Asp359=) single nucleotide variant Kleefstra syndrome 1 [RCV001905225] Chr9:137743997 [GRCh38]
Chr9:140638449 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.595A>G (p.Lys199Glu) single nucleotide variant Kleefstra syndrome 1 [RCV001905233] Chr9:137717135 [GRCh38]
Chr9:140611587 [GRCh37]
Chr9:9q34.3
likely benign|uncertain significance
NM_024757.5(EHMT1):c.38G>T (p.Gly13Val) single nucleotide variant Kleefstra syndrome 1 [RCV001997141] Chr9:137710983 [GRCh38]
Chr9:140605435 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.541G>C (p.Glu181Gln) single nucleotide variant Kleefstra syndrome 1 [RCV001924021] Chr9:137717081 [GRCh38]
Chr9:140611533 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.3830C>T (p.Ala1277Val) single nucleotide variant Kleefstra syndrome 1 [RCV001994979] Chr9:137834886 [GRCh38]
Chr9:140729338 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.3085G>A (p.Val1029Met) single nucleotide variant Kleefstra syndrome 1 [RCV001979588] Chr9:137813435 [GRCh38]
Chr9:140707887 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.154G>T (p.Gly52Cys) single nucleotide variant Kleefstra syndrome 1 [RCV001952229] Chr9:137716694 [GRCh38]
Chr9:140611146 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.3001G>A (p.Asp1001Asn) single nucleotide variant Kleefstra syndrome 1 [RCV001896989] Chr9:137813139 [GRCh38]
Chr9:140707591 [GRCh37]
Chr9:9q34.3
likely benign|uncertain significance
NM_024757.5(EHMT1):c.983G>A (p.Gly328Glu) single nucleotide variant Kleefstra syndrome 1 [RCV001996733] Chr9:137743903 [GRCh38]
Chr9:140638355 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.1249-18G>C single nucleotide variant Kleefstra syndrome 1 [RCV001998537] Chr9:137754153 [GRCh38]
Chr9:140648605 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.3181-17G>A single nucleotide variant Kleefstra syndrome 1 [RCV001902422] Chr9:137814414 [GRCh38]
Chr9:140708866 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.1000G>A (p.Ala334Thr) single nucleotide variant Kleefstra syndrome 1 [RCV001879616] Chr9:137743920 [GRCh38]
Chr9:140638372 [GRCh37]
Chr9:9q34.3
likely benign|uncertain significance
NM_024757.5(EHMT1):c.1393G>A (p.Ala465Thr) single nucleotide variant Kleefstra syndrome 1 [RCV001884808] Chr9:137757903 [GRCh38]
Chr9:140652355 [GRCh37]
Chr9:9q34.3
benign|uncertain significance
NM_024757.5(EHMT1):c.94A>G (p.Met32Val) single nucleotide variant Kleefstra syndrome 1 [RCV001907297]|not provided [RCV003319483] Chr9:137716634 [GRCh38]
Chr9:140611086 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.17C>T (p.Ala6Val) single nucleotide variant Kleefstra syndrome 1 [RCV002013901] Chr9:137619045 [GRCh38]
Chr9:140513497 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.860G>A (p.Arg287Gln) single nucleotide variant Kleefstra syndrome 1 [RCV001961308] Chr9:137743407 [GRCh38]
Chr9:140637859 [GRCh37]
Chr9:9q34.3
likely benign|uncertain significance
NM_024757.5(EHMT1):c.544G>A (p.Gly182Arg) single nucleotide variant Kleefstra syndrome 1 [RCV001933464] Chr9:137717084 [GRCh38]
Chr9:140611536 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.3544G>C (p.Gly1182Arg) single nucleotide variant Kleefstra syndrome 1 [RCV001979916] Chr9:137834352 [GRCh38]
Chr9:140728804 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.510G>T (p.Gln170His) single nucleotide variant Kleefstra syndrome 1 [RCV001936807] Chr9:137717050 [GRCh38]
Chr9:140611502 [GRCh37]
Chr9:9q34.3
conflicting interpretations of pathogenicity|uncertain significance
NM_024757.5(EHMT1):c.1379C>T (p.Ser460Leu) single nucleotide variant Kleefstra syndrome 1 [RCV001980602] Chr9:137757889 [GRCh38]
Chr9:140652341 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.1359C>G (p.Ser453Arg) single nucleotide variant Inborn genetic diseases [RCV002547999]|Kleefstra syndrome 1 [RCV001904911] Chr9:137754281 [GRCh38]
Chr9:140648733 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.3074G>C (p.Cys1025Ser) single nucleotide variant Kleefstra syndrome 1 [RCV001905842] Chr9:137813424 [GRCh38]
Chr9:140707876 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.1344T>G (p.Ser448Arg) single nucleotide variant Kleefstra syndrome 1 [RCV001980383] Chr9:137754266 [GRCh38]
Chr9:140648718 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.3544G>A (p.Gly1182Arg) single nucleotide variant Inborn genetic diseases [RCV002458993]|Kleefstra syndrome 1 [RCV002018354]|not provided [RCV003313262] Chr9:137834352 [GRCh38]
Chr9:140728804 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.3498C>A (p.Asp1166Glu) single nucleotide variant Kleefstra syndrome 1 [RCV002027092] Chr9:137818096 [GRCh38]
Chr9:140712548 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.2095A>G (p.Thr699Ala) single nucleotide variant Inborn genetic diseases [RCV002423262]|Kleefstra syndrome 1 [RCV002026066] Chr9:137777958 [GRCh38]
Chr9:140672410 [GRCh37]
Chr9:9q34.3
likely benign|uncertain significance
NM_024757.5(EHMT1):c.161C>T (p.Thr54Ile) single nucleotide variant Inborn genetic diseases [RCV002397953]|Kleefstra syndrome 1 [RCV001952834] Chr9:137716701 [GRCh38]
Chr9:140611153 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.1210A>G (p.Thr404Ala) single nucleotide variant Kleefstra syndrome 1 [RCV001922432] Chr9:137752370 [GRCh38]
Chr9:140646822 [GRCh37]
Chr9:9q34.3
benign|uncertain significance
NM_024757.5(EHMT1):c.745C>G (p.Leu249Val) single nucleotide variant Kleefstra syndrome 1 [RCV001933231]|not provided [RCV003223739] Chr9:137728451 [GRCh38]
Chr9:140622903 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.3449C>G (p.Thr1150Ser) single nucleotide variant Kleefstra syndrome 1 [RCV002016379] Chr9:137817513 [GRCh38]
Chr9:140711965 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.1614C>A (p.Asn538Lys) single nucleotide variant Kleefstra syndrome 1 [RCV001990200] Chr9:137762787 [GRCh38]
Chr9:140657239 [GRCh37]
Chr9:9q34.3
likely benign|uncertain significance
NM_024757.5(EHMT1):c.1303A>G (p.Ser435Gly) single nucleotide variant Kleefstra syndrome 1 [RCV001991943] Chr9:137754225 [GRCh38]
Chr9:140648677 [GRCh37]
Chr9:9q34.3
likely benign|uncertain significance
NM_024757.5(EHMT1):c.2814C>G (p.His938Gln) single nucleotide variant Kleefstra syndrome 1 [RCV001900104] Chr9:137811562 [GRCh38]
Chr9:140706014 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.696A>T (p.Glu232Asp) single nucleotide variant Kleefstra syndrome 1 [RCV002032067] Chr9:137728402 [GRCh38]
Chr9:140622854 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.2236G>A (p.Ala746Thr) single nucleotide variant Kleefstra syndrome 1 [RCV001866432]|not provided [RCV002469416] Chr9:137779678 [GRCh38]
Chr9:140674130 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.3752G>T (p.Gly1251Val) single nucleotide variant Inborn genetic diseases [RCV002361115]|Kleefstra syndrome 1 [RCV001901984] Chr9:137834808 [GRCh38]
Chr9:140729260 [GRCh37]
Chr9:9q34.3
likely benign|uncertain significance
NM_024757.5(EHMT1):c.2275+17G>A single nucleotide variant Kleefstra syndrome 1 [RCV001900459] Chr9:137779734 [GRCh38]
Chr9:140674186 [GRCh37]
Chr9:9q34.3
likely benign|uncertain significance
NM_024757.5(EHMT1):c.916G>A (p.Val306Ile) single nucleotide variant Kleefstra syndrome 1 [RCV001977074] Chr9:137743463 [GRCh38]
Chr9:140637915 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.2168C>T (p.Ala723Val) single nucleotide variant Kleefstra syndrome 1 [RCV001931839] Chr9:137778031 [GRCh38]
Chr9:140672483 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.268C>G (p.Arg90Gly) single nucleotide variant Kleefstra syndrome 1 [RCV001990658] Chr9:137716808 [GRCh38]
Chr9:140611260 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.3394C>T (p.Arg1132Trp) single nucleotide variant Inborn genetic diseases [RCV002571175]|Kleefstra syndrome 1 [RCV001975333] Chr9:137817458 [GRCh38]
Chr9:140711910 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.1648-18A>G single nucleotide variant Kleefstra syndrome 1 [RCV002129966] Chr9:137775091 [GRCh38]
Chr9:140669543 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.2097G>A (p.Thr699=) single nucleotide variant Kleefstra syndrome 1 [RCV002071452] Chr9:137777960 [GRCh38]
Chr9:140672412 [GRCh37]
Chr9:9q34.3
benign
NM_024757.5(EHMT1):c.85+11T>C single nucleotide variant Kleefstra syndrome 1 [RCV002168547] Chr9:137711041 [GRCh38]
Chr9:140605493 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.1647+9G>A single nucleotide variant Kleefstra syndrome 1 [RCV002085349] Chr9:137762829 [GRCh38]
Chr9:140657281 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.2382+13G>A single nucleotide variant Kleefstra syndrome 1 [RCV002108469] Chr9:137782410 [GRCh38]
Chr9:140676862 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.2871C>G (p.Leu957=) single nucleotide variant Kleefstra syndrome 1 [RCV002192409] Chr9:137813009 [GRCh38]
Chr9:140707461 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.1248+12C>A single nucleotide variant Kleefstra syndrome 1 [RCV002124387] Chr9:137752420 [GRCh38]
Chr9:140646872 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.2018+13G>A single nucleotide variant Kleefstra syndrome 1 [RCV002105992] Chr9:137776857 [GRCh38]
Chr9:140671309 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.3541-10C>T single nucleotide variant Kleefstra syndrome 1 [RCV002166415] Chr9:137834339 [GRCh38]
Chr9:140728791 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.505C>G (p.Pro169Ala) single nucleotide variant Inborn genetic diseases [RCV002561587]|Kleefstra syndrome 1 [RCV002190722] Chr9:137717045 [GRCh38]
Chr9:140611497 [GRCh37]
Chr9:9q34.3
benign|uncertain significance
NM_024757.5(EHMT1):c.3461+19C>T single nucleotide variant Kleefstra syndrome 1 [RCV002186486] Chr9:137817544 [GRCh38]
Chr9:140711996 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.3716+13C>T single nucleotide variant Kleefstra syndrome 1 [RCV002087616] Chr9:137834537 [GRCh38]
Chr9:140728989 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.86-16G>A single nucleotide variant Kleefstra syndrome 1 [RCV002127062] Chr9:137716610 [GRCh38]
Chr9:140611062 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.1249-15C>G single nucleotide variant Kleefstra syndrome 1 [RCV002192612] Chr9:137754156 [GRCh38]
Chr9:140648608 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.3714C>G (p.Leu1238=) single nucleotide variant Kleefstra syndrome 1 [RCV002108884] Chr9:137834522 [GRCh38]
Chr9:140728974 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.1370-11T>C single nucleotide variant Kleefstra syndrome 1 [RCV002110773] Chr9:137757869 [GRCh38]
Chr9:140652321 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.1502-20_1502-19del deletion Kleefstra syndrome 1 [RCV002108868] Chr9:137762655..137762656 [GRCh38]
Chr9:140657107..140657108 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.3238A>C (p.Met1080Leu) single nucleotide variant Kleefstra syndrome 1 [RCV002210919] Chr9:137814488 [GRCh38]
Chr9:140708940 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.1369+12G>C single nucleotide variant Kleefstra syndrome 1 [RCV002110721] Chr9:137754303 [GRCh38]
Chr9:140648755 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.3029T>G (p.Val1010Gly) single nucleotide variant Kleefstra syndrome 1 [RCV002128005] Chr9:137813167 [GRCh38]
Chr9:140707619 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.1648-20C>A single nucleotide variant Kleefstra syndrome 1 [RCV002147739] Chr9:137775089 [GRCh38]
Chr9:140669541 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.1171-14G>A single nucleotide variant Kleefstra syndrome 1 [RCV002208384] Chr9:137752317 [GRCh38]
Chr9:140646769 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.3180+18A>C single nucleotide variant Kleefstra syndrome 1 [RCV002191477] Chr9:137813548 [GRCh38]
Chr9:140708000 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.3636G>A (p.Val1212=) single nucleotide variant Kleefstra syndrome 1 [RCV002149168] Chr9:137834444 [GRCh38]
Chr9:140728896 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.3462-13G>A single nucleotide variant Kleefstra syndrome 1 [RCV002091542] Chr9:137818047 [GRCh38]
Chr9:140712499 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.2421G>A (p.Arg807=) single nucleotide variant Kleefstra syndrome 1 [RCV002092778] Chr9:137790886 [GRCh38]
Chr9:140685338 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.3339G>T (p.Arg1113Ser) single nucleotide variant Kleefstra syndrome 1 [RCV002085102] Chr9:137816027 [GRCh38]
Chr9:140710479 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.85+6G>A single nucleotide variant Kleefstra syndrome 1 [RCV002191833] Chr9:137711036 [GRCh38]
Chr9:140605488 [GRCh37]
Chr9:9q34.3
benign
NM_024757.5(EHMT1):c.1248+16T>G single nucleotide variant Kleefstra syndrome 1 [RCV002188962] Chr9:137752424 [GRCh38]
Chr9:140646876 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.2443G>A (p.Glu815Lys) single nucleotide variant Inborn genetic diseases [RCV002561577]|Kleefstra syndrome 1 [RCV002190545] Chr9:137790908 [GRCh38]
Chr9:140685360 [GRCh37]
Chr9:9q34.3
likely benign|uncertain significance
NM_024757.5(EHMT1):c.3036-17T>C single nucleotide variant Kleefstra syndrome 1 [RCV002187615] Chr9:137813369 [GRCh38]
Chr9:140707821 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.1044G>T (p.Ser348=) single nucleotide variant Kleefstra syndrome 1 [RCV002090508] Chr9:137743964 [GRCh38]
Chr9:140638416 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.2646G>A (p.Glu882=) single nucleotide variant Kleefstra syndrome 1 [RCV002090341] Chr9:137800918 [GRCh38]
Chr9:140695370 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.391G>C (p.Ala131Pro) single nucleotide variant Inborn genetic diseases [RCV002372898]|Kleefstra syndrome 1 [RCV002075773]|not provided [RCV002508339] Chr9:137716931 [GRCh38]
Chr9:140611383 [GRCh37]
Chr9:9q34.3
benign|likely benign|uncertain significance
NM_024757.5(EHMT1):c.1236C>T (p.Asp412=) single nucleotide variant Kleefstra syndrome 1 [RCV002090338] Chr9:137752396 [GRCh38]
Chr9:140646848 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.823+14G>A single nucleotide variant Kleefstra syndrome 1 [RCV002111054] Chr9:137728543 [GRCh38]
Chr9:140622995 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.1501+12G>T single nucleotide variant Kleefstra syndrome 1 [RCV002072488] Chr9:137758023 [GRCh38]
Chr9:140652475 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.2409A>G (p.Ser803=) single nucleotide variant Kleefstra syndrome 1 [RCV002188092] Chr9:137790874 [GRCh38]
Chr9:140685326 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.2713-11T>C single nucleotide variant Kleefstra syndrome 1 [RCV002071130] Chr9:137811450 [GRCh38]
Chr9:140705902 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.216C>T (p.His72=) single nucleotide variant Kleefstra syndrome 1 [RCV002071179] Chr9:137716756 [GRCh38]
Chr9:140611208 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.86-12C>G single nucleotide variant Kleefstra syndrome 1 [RCV002207676] Chr9:137716614 [GRCh38]
Chr9:140611066 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.998G>A (p.Gly333Asp) single nucleotide variant Kleefstra syndrome 1 [RCV002104537] Chr9:137743918 [GRCh38]
Chr9:140638370 [GRCh37]
Chr9:9q34.3
benign
NM_024757.5(EHMT1):c.1647+12T>G single nucleotide variant Kleefstra syndrome 1 [RCV002125879] Chr9:137762832 [GRCh38]
Chr9:140657284 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.3199G>A (p.Asp1067Asn) single nucleotide variant Kleefstra syndrome 1 [RCV002167057] Chr9:137814449 [GRCh38]
Chr9:140708901 [GRCh37]
Chr9:9q34.3
benign
NM_024757.5(EHMT1):c.982-10C>T single nucleotide variant Kleefstra syndrome 1 [RCV002148038] Chr9:137743892 [GRCh38]
Chr9:140638344 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.127G>T (p.Ala43Ser) single nucleotide variant Kleefstra syndrome 1 [RCV002244240] Chr9:137716667 [GRCh38]
Chr9:140611119 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.22-9C>T single nucleotide variant Kleefstra syndrome 1 [RCV002209540] Chr9:137710958 [GRCh38]
Chr9:140605410 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.651C>T (p.Ala217=) single nucleotide variant Kleefstra syndrome 1 [RCV002207982] Chr9:137728357 [GRCh38]
Chr9:140622809 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.3181-18C>T single nucleotide variant Kleefstra syndrome 1 [RCV002188577] Chr9:137814413 [GRCh38]
Chr9:140708865 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.2382+16G>C single nucleotide variant Kleefstra syndrome 1 [RCV002075434] Chr9:137782413 [GRCh38]
Chr9:140676865 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.1647+13G>C single nucleotide variant Kleefstra syndrome 1 [RCV002167401] Chr9:137762833 [GRCh38]
Chr9:140657285 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.21+21_21+38dup duplication Kleefstra syndrome 1 [RCV002206419] Chr9:137619064..137619065 [GRCh38]
Chr9:140513516..140513517 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.3035+19C>G single nucleotide variant Kleefstra syndrome 1 [RCV002107976] Chr9:137813192 [GRCh38]
Chr9:140707644 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.2074G>T (p.Val692Leu) single nucleotide variant Kleefstra syndrome 1 [RCV002206642] Chr9:137777937 [GRCh38]
Chr9:140672389 [GRCh37]
Chr9:9q34.3
benign
NM_024757.5(EHMT1):c.2019-16A>G single nucleotide variant Kleefstra syndrome 1 [RCV002169424] Chr9:137777866 [GRCh38]
Chr9:140672318 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.2018+14G>A single nucleotide variant Kleefstra syndrome 1 [RCV002107000] Chr9:137776858 [GRCh38]
Chr9:140671310 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.2131C>T (p.Leu711Phe) single nucleotide variant Kleefstra syndrome 1 [RCV002105267] Chr9:137777994 [GRCh38]
Chr9:140672446 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.230C>G (p.Ala77Gly) single nucleotide variant Inborn genetic diseases [RCV003269126]|Kleefstra syndrome 1 [RCV002107427] Chr9:137716770 [GRCh38]
Chr9:140611222 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.3716+12C>T single nucleotide variant Kleefstra syndrome 1 [RCV002167970] Chr9:137834536 [GRCh38]
Chr9:140728988 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.21+20G>T single nucleotide variant Kleefstra syndrome 1 [RCV002113854] Chr9:137619069 [GRCh38]
Chr9:140513521 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.1502-18G>A single nucleotide variant Kleefstra syndrome 1 [RCV002089249] Chr9:137762657 [GRCh38]
Chr9:140657109 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.1502-5G>C single nucleotide variant Kleefstra syndrome 1 [RCV002193342] Chr9:137762670 [GRCh38]
Chr9:140657122 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.3053A>G (p.Tyr1018Cys) single nucleotide variant Kleefstra syndrome 1 [RCV002214817] Chr9:137813403 [GRCh38]
Chr9:140707855 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.1709C>T (p.Pro570Leu) single nucleotide variant Kleefstra syndrome 1 [RCV002197644] Chr9:137775170 [GRCh38]
Chr9:140669622 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.1923G>A (p.Thr641=) single nucleotide variant Kleefstra syndrome 1 [RCV002094086] Chr9:137776749 [GRCh38]
Chr9:140671201 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.982-11C>T single nucleotide variant Kleefstra syndrome 1 [RCV002110834] Chr9:137743891 [GRCh38]
Chr9:140638343 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.2382+8G>A single nucleotide variant Kleefstra syndrome 1 [RCV002168755] Chr9:137782405 [GRCh38]
Chr9:140676857 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.3808C>T (p.Leu1270=) single nucleotide variant Kleefstra syndrome 1 [RCV002147559] Chr9:137834864 [GRCh38]
Chr9:140729316 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.1347A>G (p.Arg449=) single nucleotide variant Inborn genetic diseases [RCV002382321]|Kleefstra syndrome 1 [RCV002215975] Chr9:137754269 [GRCh38]
Chr9:140648721 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.21+18C>T single nucleotide variant Kleefstra syndrome 1 [RCV002116499] Chr9:137619067 [GRCh38]
Chr9:140513519 [GRCh37]
Chr9:9q34.3
benign
NM_024757.5(EHMT1):c.1171-6G>C single nucleotide variant Kleefstra syndrome 1 [RCV002196722] Chr9:137752325 [GRCh38]
Chr9:140646777 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.3541-19C>T single nucleotide variant Kleefstra syndrome 1 [RCV002135028] Chr9:137834330 [GRCh38]
Chr9:140728782 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.982-9G>T single nucleotide variant Kleefstra syndrome 1 [RCV002211533] Chr9:137743893 [GRCh38]
Chr9:140638345 [GRCh37]
Chr9:9q34.3
likely benign
NC_000009.11:g.(?_140728781)_(141016451_?)dup duplication Kleefstra syndrome 1 [RCV002130990]|not provided [RCV003107965] Chr9:140728781..141016451 [GRCh37]
Chr9:9q34.3
likely benign|uncertain significance|no classifications from unflagged records
NM_024757.5(EHMT1):c.2019-19C>G single nucleotide variant Kleefstra syndrome 1 [RCV002113038] Chr9:137777863 [GRCh38]
Chr9:140672315 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.3804G>T (p.Ala1268=) single nucleotide variant Kleefstra syndrome 1 [RCV002195216] Chr9:137834860 [GRCh38]
Chr9:140729312 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.3375-16A>G single nucleotide variant Kleefstra syndrome 1 [RCV002174351] Chr9:137817423 [GRCh38]
Chr9:140711875 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.298G>C (p.Asp100His) single nucleotide variant not provided [RCV002211004] Chr9:137716838 [GRCh38]
Chr9:140611290 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.2019-18C>T single nucleotide variant Kleefstra syndrome 1 [RCV002132364] Chr9:137777864 [GRCh38]
Chr9:140672316 [GRCh37]
Chr9:9q34.3
benign
NM_024757.5(EHMT1):c.1369+16G>C single nucleotide variant Kleefstra syndrome 1 [RCV002077406] Chr9:137754307 [GRCh38]
Chr9:140648759 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.2721C>T (p.Asn907=) single nucleotide variant Kleefstra syndrome 1 [RCV002195442] Chr9:137811469 [GRCh38]
Chr9:140705921 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.91C>G (p.Pro31Ala) single nucleotide variant Kleefstra syndrome 1 [RCV002116086] Chr9:137716631 [GRCh38]
Chr9:140611083 [GRCh37]
Chr9:9q34.3
benign
NM_024757.5(EHMT1):c.3717-13G>T single nucleotide variant Kleefstra syndrome 1 [RCV002213240] Chr9:137834760 [GRCh38]
Chr9:140729212 [GRCh37]
Chr9:9q34.3
benign
NM_024757.5(EHMT1):c.3375-9A>G single nucleotide variant Kleefstra syndrome 1 [RCV002150316] Chr9:137817430 [GRCh38]
Chr9:140711882 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.21+7_21+12del deletion Kleefstra syndrome 1 [RCV002213604] Chr9:137619056..137619061 [GRCh38]
Chr9:140513508..140513513 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.21+14C>G single nucleotide variant Kleefstra syndrome 1 [RCV002213605] Chr9:137619063 [GRCh38]
Chr9:140513515 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.982-7G>A single nucleotide variant Kleefstra syndrome 1 [RCV002080985] Chr9:137743895 [GRCh38]
Chr9:140638347 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.1791+15C>T single nucleotide variant Kleefstra syndrome 1 [RCV002113396] Chr9:137775267 [GRCh38]
Chr9:140669719 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.3374+20C>T single nucleotide variant Kleefstra syndrome 1 [RCV002116671] Chr9:137816082 [GRCh38]
Chr9:140710534 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.225C>T (p.Asp75=) single nucleotide variant Kleefstra syndrome 1 [RCV002211440] Chr9:137716765 [GRCh38]
Chr9:140611217 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.3259-13C>T single nucleotide variant Kleefstra syndrome 1 [RCV002085060] Chr9:137815934 [GRCh38]
Chr9:140710386 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.321C>T (p.Asn107=) single nucleotide variant Kleefstra syndrome 1 [RCV002090137] Chr9:137716861 [GRCh38]
Chr9:140611313 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.1369+16G>T single nucleotide variant Kleefstra syndrome 1 [RCV002133079] Chr9:137754307 [GRCh38]
Chr9:140648759 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.2712+5G>C single nucleotide variant Kleefstra syndrome 1 [RCV002173023] Chr9:137800989 [GRCh38]
Chr9:140695441 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.2814C>T (p.His938=) single nucleotide variant Kleefstra syndrome 1 [RCV002135262] Chr9:137811562 [GRCh38]
Chr9:140706014 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.2322C>T (p.Arg774=) single nucleotide variant Kleefstra syndrome 1 [RCV002211950] Chr9:137782337 [GRCh38]
Chr9:140676789 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.640C>T (p.Leu214=) single nucleotide variant Kleefstra syndrome 1 [RCV002166501] Chr9:137717180 [GRCh38]
Chr9:140611632 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.1249-14G>A single nucleotide variant Kleefstra syndrome 1 [RCV002090321] Chr9:137754157 [GRCh38]
Chr9:140648609 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.2275+16C>T single nucleotide variant Kleefstra syndrome 1 [RCV002172285] Chr9:137779733 [GRCh38]
Chr9:140674185 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.1502-12G>A single nucleotide variant Kleefstra syndrome 1 [RCV002214607] Chr9:137762663 [GRCh38]
Chr9:140657115 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.2802C>G (p.Ala934=) single nucleotide variant Kleefstra syndrome 1 [RCV002128680] Chr9:137811550 [GRCh38]
Chr9:140706002 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.1671G>C (p.Val557=) single nucleotide variant Kleefstra syndrome 1 [RCV002152322] Chr9:137775132 [GRCh38]
Chr9:140669584 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.3541-12C>T single nucleotide variant Kleefstra syndrome 1 [RCV002173637] Chr9:137834337 [GRCh38]
Chr9:140728789 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.188C>G (p.Ala63Gly) single nucleotide variant Kleefstra syndrome 1 [RCV002132997]|not provided [RCV003227063] Chr9:137716728 [GRCh38]
Chr9:140611180 [GRCh37]
Chr9:9q34.3
benign|uncertain significance
NM_024757.5(EHMT1):c.22-17T>C single nucleotide variant Kleefstra syndrome 1 [RCV002213089] Chr9:137710950 [GRCh38]
Chr9:140605402 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.1790C>T (p.Ala597Val) single nucleotide variant Kleefstra syndrome 1 [RCV002080117] Chr9:137775251 [GRCh38]
Chr9:140669703 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.1101G>A (p.Ala367=) single nucleotide variant Kleefstra syndrome 1 [RCV002147321] Chr9:137744021 [GRCh38]
Chr9:140638473 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.609A>C (p.Ala203=) single nucleotide variant Kleefstra syndrome 1 [RCV002131517] Chr9:137717149 [GRCh38]
Chr9:140611601 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.3657G>T (p.Leu1219=) single nucleotide variant Kleefstra syndrome 1 [RCV002192783] Chr9:137834465 [GRCh38]
Chr9:140728917 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.333C>T (p.Ala111=) single nucleotide variant Kleefstra syndrome 1 [RCV002074878] Chr9:137716873 [GRCh38]
Chr9:140611325 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.2779G>T (p.Ala927Ser) single nucleotide variant Kleefstra syndrome 1 [RCV002151100] Chr9:137811527 [GRCh38]
Chr9:140705979 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.85+15C>T single nucleotide variant Kleefstra syndrome 1 [RCV002196087] Chr9:137711045 [GRCh38]
Chr9:140605497 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.2019-11C>G single nucleotide variant Kleefstra syndrome 1 [RCV002149296] Chr9:137777871 [GRCh38]
Chr9:140672323 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.3372C>T (p.Leu1124=) single nucleotide variant Kleefstra syndrome 1 [RCV002195837] Chr9:137816060 [GRCh38]
Chr9:140710512 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.117A>T (p.Ala39=) single nucleotide variant Kleefstra syndrome 1 [RCV002212679] Chr9:137716657 [GRCh38]
Chr9:140611109 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.1246C>T (p.Leu416=) single nucleotide variant Kleefstra syndrome 1 [RCV002094831] Chr9:137752406 [GRCh38]
Chr9:140646858 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.981+16G>A single nucleotide variant Kleefstra syndrome 1 [RCV002150588] Chr9:137743544 [GRCh38]
Chr9:140637996 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.3036-4G>A single nucleotide variant Kleefstra syndrome 1 [RCV002150078] Chr9:137813382 [GRCh38]
Chr9:140707834 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.3861C>A (p.Pro1287=) single nucleotide variant Kleefstra syndrome 1 [RCV002153064] Chr9:137834917 [GRCh38]
Chr9:140729369 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.3035+6C>G single nucleotide variant Kleefstra syndrome 1 [RCV002131162] Chr9:137813179 [GRCh38]
Chr9:140707631 [GRCh37]
Chr9:9q34.3
benign
NM_024757.5(EHMT1):c.2193-4A>G single nucleotide variant Kleefstra syndrome 1 [RCV002114858] Chr9:137779631 [GRCh38]
Chr9:140674083 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.1272G>A (p.Lys424=) single nucleotide variant Kleefstra syndrome 1 [RCV002114875] Chr9:137754194 [GRCh38]
Chr9:140648646 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.2703C>T (p.Ile901=) single nucleotide variant Kleefstra syndrome 1 [RCV002210595] Chr9:137800975 [GRCh38]
Chr9:140695427 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.21+19G>C single nucleotide variant Kleefstra syndrome 1 [RCV002113191] Chr9:137619068 [GRCh38]
Chr9:140513520 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.3123C>T (p.Val1041=) single nucleotide variant Kleefstra syndrome 1 [RCV002094375] Chr9:137813473 [GRCh38]
Chr9:140707925 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.2713-3C>G single nucleotide variant Kleefstra syndrome 1 [RCV002134780]|not provided [RCV002243523] Chr9:137811458 [GRCh38]
Chr9:140705910 [GRCh37]
Chr9:9q34.3
likely benign|uncertain significance
NM_024757.5(EHMT1):c.2506-18G>T single nucleotide variant Kleefstra syndrome 1 [RCV002072419] Chr9:137798795 [GRCh38]
Chr9:140693247 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.3280T>A (p.Phe1094Ile) single nucleotide variant not provided [RCV002214505] Chr9:137815968 [GRCh38]
Chr9:140710420 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.3354C>T (p.Arg1118=) single nucleotide variant Kleefstra syndrome 1 [RCV002197093] Chr9:137816042 [GRCh38]
Chr9:140710494 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.3102C>T (p.Cys1034=) single nucleotide variant Kleefstra syndrome 1 [RCV002185696] Chr9:137813452 [GRCh38]
Chr9:140707904 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.189C>T (p.Ala63=) single nucleotide variant Kleefstra syndrome 1 [RCV002207671] Chr9:137716729 [GRCh38]
Chr9:140611181 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.3035+20G>A single nucleotide variant Kleefstra syndrome 1 [RCV002115035] Chr9:137813193 [GRCh38]
Chr9:140707645 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.729C>T (p.Asp243=) single nucleotide variant Kleefstra syndrome 1 [RCV002153983] Chr9:137728435 [GRCh38]
Chr9:140622887 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.1848C>T (p.Asp616=) single nucleotide variant Kleefstra syndrome 1 [RCV002179308] Chr9:137776674 [GRCh38]
Chr9:140671126 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.1248+13G>A single nucleotide variant Kleefstra syndrome 1 [RCV002218490] Chr9:137752421 [GRCh38]
Chr9:140646873 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.3180+13_3180+15del deletion Kleefstra syndrome 1 [RCV002220449] Chr9:137813543..137813545 [GRCh38]
Chr9:140707995..140707997 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.21+30_21+40del deletion Kleefstra syndrome 1 [RCV002201947] Chr9:137619069..137619079 [GRCh38]
Chr9:140513521..140513531 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.3888C>T (p.Asp1296=) single nucleotide variant Kleefstra syndrome 1 [RCV002139515] Chr9:137834944 [GRCh38]
Chr9:140729396 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.3462-8C>T single nucleotide variant Kleefstra syndrome 1 [RCV002220574] Chr9:137818052 [GRCh38]
Chr9:140712504 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.3180+8A>G single nucleotide variant Kleefstra syndrome 1 [RCV002081762] Chr9:137813538 [GRCh38]
Chr9:140707990 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.3861C>G (p.Pro1287=) single nucleotide variant Kleefstra syndrome 1 [RCV002154479] Chr9:137834917 [GRCh38]
Chr9:140729369 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.2487G>A (p.Gly829=) single nucleotide variant Kleefstra syndrome 1 [RCV002102274] Chr9:137790952 [GRCh38]
Chr9:140685404 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.3375-18C>G single nucleotide variant Kleefstra syndrome 1 [RCV002098657] Chr9:137817421 [GRCh38]
Chr9:140711873 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.2523G>T (p.Thr841=) single nucleotide variant Kleefstra syndrome 1 [RCV002178091] Chr9:137798830 [GRCh38]
Chr9:140693282 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.3744C>T (p.Asp1248=) single nucleotide variant Kleefstra syndrome 1 [RCV002219640] Chr9:137834800 [GRCh38]
Chr9:140729252 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.996G>A (p.Leu332=) single nucleotide variant Kleefstra syndrome 1 [RCV002158947] Chr9:137743916 [GRCh38]
Chr9:140638368 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.21+22_21+42del deletion Kleefstra syndrome 1 [RCV002198938] Chr9:137619064..137619084 [GRCh38]
Chr9:140513516..140513536 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.3181-20C>T single nucleotide variant Kleefstra syndrome 1 [RCV002140083] Chr9:137814411 [GRCh38]
Chr9:140708863 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.501T>C (p.Ala167=) single nucleotide variant Kleefstra syndrome 1 [RCV002219926] Chr9:137717041 [GRCh38]
Chr9:140611493 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.519C>A (p.Ala173=) single nucleotide variant Kleefstra syndrome 1 [RCV002164776] Chr9:137717059 [GRCh38]
Chr9:140611511 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.1966G>C (p.Gly656Arg) single nucleotide variant Kleefstra syndrome 1 [RCV002176898] Chr9:137776792 [GRCh38]
Chr9:140671244 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.210A>G (p.Ala70=) single nucleotide variant Kleefstra syndrome 1 [RCV002180919] Chr9:137716750 [GRCh38]
Chr9:140611202 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.2952G>A (p.Gln984=) single nucleotide variant Kleefstra syndrome 1 [RCV002182760] Chr9:137813090 [GRCh38]
Chr9:140707542 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.2130C>G (p.Gly710=) single nucleotide variant Kleefstra syndrome 1 [RCV002182853] Chr9:137777993 [GRCh38]
Chr9:140672445 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.86-8G>T single nucleotide variant Kleefstra syndrome 1 [RCV002203737] Chr9:137716618 [GRCh38]
Chr9:140611070 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.853G>C (p.Val285Leu) single nucleotide variant Kleefstra syndrome 1 [RCV002184604] Chr9:137743400 [GRCh38]
Chr9:140637852 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.85+12G>A single nucleotide variant Kleefstra syndrome 1 [RCV002198008] Chr9:137711042 [GRCh38]
Chr9:140605494 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.3398C>T (p.Thr1133Met) single nucleotide variant Kleefstra syndrome 1 [RCV003094062]|not provided [RCV002247212] Chr9:137817462 [GRCh38]
Chr9:140711914 [GRCh37]
Chr9:9q34.3
benign|uncertain significance
NM_024757.5(EHMT1):c.2712+7T>G single nucleotide variant Kleefstra syndrome 1 [RCV002102111] Chr9:137800991 [GRCh38]
Chr9:140695443 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.3075T>C (p.Cys1025=) single nucleotide variant Kleefstra syndrome 1 [RCV002184757] Chr9:137813425 [GRCh38]
Chr9:140707877 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.526C>A (p.Pro176Thr) single nucleotide variant Kleefstra syndrome 1 [RCV002175613] Chr9:137717066 [GRCh38]
Chr9:140611518 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.1546G>A (p.Glu516Lys) single nucleotide variant Kleefstra syndrome 1 [RCV002158197] Chr9:137762719 [GRCh38]
Chr9:140657171 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.2994G>A (p.Ser998=) single nucleotide variant Kleefstra syndrome 1 [RCV002160128] Chr9:137813132 [GRCh38]
Chr9:140707584 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.86-17C>T single nucleotide variant Kleefstra syndrome 1 [RCV002183327] Chr9:137716609 [GRCh38]
Chr9:140611061 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.21+20G>C single nucleotide variant Kleefstra syndrome 1 [RCV002163725] Chr9:137619069 [GRCh38]
Chr9:140513521 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.636G>C (p.Val212=) single nucleotide variant Kleefstra syndrome 1 [RCV002176114] Chr9:137717176 [GRCh38]
Chr9:140611628 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.2868-8C>T single nucleotide variant Kleefstra syndrome 1 [RCV002200495] Chr9:137812998 [GRCh38]
Chr9:140707450 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.1286G>A (p.Arg429Lys) single nucleotide variant Kleefstra syndrome 1 [RCV002219311] Chr9:137754208 [GRCh38]
Chr9:140648660 [GRCh37]
Chr9:9q34.3
benign
NM_024757.5(EHMT1):c.824-19C>A single nucleotide variant Kleefstra syndrome 1 [RCV002098761] Chr9:137743352 [GRCh38]
Chr9:140637804 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.933G>T (p.Thr311=) single nucleotide variant Kleefstra syndrome 1 [RCV002202407] Chr9:137743480 [GRCh38]
Chr9:140637932 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.3411C>G (p.Gly1137=) single nucleotide variant Kleefstra syndrome 1 [RCV002084229] Chr9:137817475 [GRCh38]
Chr9:140711927 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.2583T>C (p.Asn861=) single nucleotide variant Kleefstra syndrome 1 [RCV002158765] Chr9:137798890 [GRCh38]
Chr9:140693342 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.162C>T (p.Thr54=) single nucleotide variant Kleefstra syndrome 1 [RCV002198997] Chr9:137716702 [GRCh38]
Chr9:140611154 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.3874G>A (p.Ala1292Thr) single nucleotide variant Kleefstra syndrome 1 [RCV002122717] Chr9:137834930 [GRCh38]
Chr9:140729382 [GRCh37]
Chr9:9q34.3
benign
NM_024757.5(EHMT1):c.3688dup (p.Arg1230fs) duplication Kleefstra syndrome [RCV002223147] Chr9:137834493..137834494 [GRCh38]
Chr9:140728945..140728946 [GRCh37]
Chr9:9q34.3
likely pathogenic
NM_024757.5(EHMT1):c.1248+12C>T single nucleotide variant Kleefstra syndrome 1 [RCV002199573] Chr9:137752420 [GRCh38]
Chr9:140646872 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.3374+15C>T single nucleotide variant Kleefstra syndrome 1 [RCV002083483] Chr9:137816077 [GRCh38]
Chr9:140710529 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.3181-15C>T single nucleotide variant Kleefstra syndrome 1 [RCV002163155] Chr9:137814416 [GRCh38]
Chr9:140708868 [GRCh37]
Chr9:9q34.3
benign
NM_024757.5(EHMT1):c.3541-7C>T single nucleotide variant Kleefstra syndrome 1 [RCV002216745] Chr9:137834342 [GRCh38]
Chr9:140728794 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.1249-20C>T single nucleotide variant Kleefstra syndrome 1 [RCV002201774] Chr9:137754151 [GRCh38]
Chr9:140648603 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.3421C>T (p.Arg1141Trp) single nucleotide variant Kleefstra syndrome 1 [RCV002216886] Chr9:137817485 [GRCh38]
Chr9:140711937 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.2018+20G>A single nucleotide variant Kleefstra syndrome 1 [RCV002182893] Chr9:137776864 [GRCh38]
Chr9:140671316 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.678A>G (p.Glu226=) single nucleotide variant Kleefstra syndrome 1 [RCV002143045] Chr9:137728384 [GRCh38]
Chr9:140622836 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.2592G>A (p.Met864Ile) single nucleotide variant Kleefstra syndrome 1 [RCV002155504] Chr9:137798899 [GRCh38]
Chr9:140693351 [GRCh37]
Chr9:9q34.3
benign
NM_024757.5(EHMT1):c.333C>G (p.Ala111=) single nucleotide variant Kleefstra syndrome 1 [RCV002098066] Chr9:137716873 [GRCh38]
Chr9:140611325 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.3063C>A (p.Ile1021=) single nucleotide variant Kleefstra syndrome 1 [RCV002201828] Chr9:137813413 [GRCh38]
Chr9:140707865 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.85+19G>A single nucleotide variant Kleefstra syndrome 1 [RCV002219053] Chr9:137711049 [GRCh38]
Chr9:140605501 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.2742G>A (p.Ala914=) single nucleotide variant Kleefstra syndrome 1 [RCV002102411] Chr9:137811490 [GRCh38]
Chr9:140705942 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.3516T>C (p.Ser1172=) single nucleotide variant Kleefstra syndrome 1 [RCV002082199] Chr9:137818114 [GRCh38]
Chr9:140712566 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.982-4C>T single nucleotide variant Kleefstra syndrome 1 [RCV002181819] Chr9:137743898 [GRCh38]
Chr9:140638350 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.1557C>G (p.Leu519=) single nucleotide variant Kleefstra syndrome 1 [RCV002102883] Chr9:137762730 [GRCh38]
Chr9:140657182 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.3670A>C (p.Ile1224Leu) single nucleotide variant Kleefstra syndrome 1 [RCV002180135] Chr9:137834478 [GRCh38]
Chr9:140728930 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.2276-12G>A single nucleotide variant Kleefstra syndrome 1 [RCV002163247] Chr9:137782279 [GRCh38]
Chr9:140676731 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.3669G>A (p.Arg1223=) single nucleotide variant Kleefstra syndrome 1 [RCV002182500] Chr9:137834477 [GRCh38]
Chr9:140728929 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.3541-16G>T single nucleotide variant Kleefstra syndrome 1 [RCV003110580] Chr9:137834333 [GRCh38]
Chr9:140728785 [GRCh37]
Chr9:9q34.3
likely benign
NC_000009.11:g.(?_140040158)_(141016451_?)del deletion Intellectual disability, autosomal dominant 8 [RCV003109674]|Kleefstra syndrome 1 [RCV003116549] Chr9:140040158..141016451 [GRCh37]
Chr9:9q34.3
pathogenic|uncertain significance
NC_000009.11:g.(?_138392557)_(141016451_?)del deletion Adams-Oliver syndrome 5 [RCV003119767]|Developmental and epileptic encephalopathy, 14 [RCV003109684]|Familial aplasia of the vermis [RCV003119768] Chr9:138392557..141016451 [GRCh37]
Chr9:9q34.3
pathogenic|uncertain significance
NM_024757.5(EHMT1):c.3790C>T (p.Arg1264Trp) single nucleotide variant Kleefstra syndrome 1 [RCV003116916] Chr9:137834846 [GRCh38]
Chr9:140729298 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.3570G>A (p.Arg1190=) single nucleotide variant Kleefstra syndrome 1 [RCV003112648] Chr9:137834378 [GRCh38]
Chr9:140728830 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.3824C>G (p.Ala1275Gly) single nucleotide variant Kleefstra syndrome 1 [RCV003115676] Chr9:137834880 [GRCh38]
Chr9:140729332 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.1680T>C (p.Tyr560=) single nucleotide variant Kleefstra syndrome 1 [RCV003112337] Chr9:137775141 [GRCh38]
Chr9:140669593 [GRCh37]
Chr9:9q34.3
likely benign
NC_000009.11:g.(?_131087402)_(141016451_?)dup duplication Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome [RCV003119700] Chr9:131087402..141016451 [GRCh37]
Chr9:9q34.11-34.3
uncertain significance
NC_000009.11:g.(?_140513481)_(140657292_?)del deletion Kleefstra syndrome 1 [RCV003122714] Chr9:140513481..140657292 [GRCh37]
Chr9:9q34.3
pathogenic
NC_000009.11:g.(?_140605399)_(140729425_?)del deletion Kleefstra syndrome 1 [RCV003122715] Chr9:140605399..140729425 [GRCh37]
Chr9:9q34.3
pathogenic
NC_000009.11:g.(?_140637803)_(140638562_?)del deletion Kleefstra syndrome 1 [RCV003122716] Chr9:140637803..140638562 [GRCh37]
Chr9:9q34.3
pathogenic
NC_000009.11:g.(?_140605399)_(140729405_?)dup duplication Kleefstra syndrome 1 [RCV003122717] Chr9:140605399..140729405 [GRCh37]
Chr9:9q34.3
uncertain significance
NC_000009.11:g.(?_140637803)_(141016451_?)dup duplication Kleefstra syndrome 1 [RCV003122718] Chr9:140637803..141016451 [GRCh37]
Chr9:9q34.3
uncertain significance
NC_000009.11:g.(?_136218768)_(141016451_?)dup duplication Kleefstra syndrome 1 [RCV003122719] Chr9:136218768..141016451 [GRCh37]
Chr9:9q34.2-34.3
uncertain significance
NC_000009.11:g.(?_140513481)_(140513521_?)dup duplication Kleefstra syndrome 1 [RCV003122720] Chr9:140513481..140513521 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.3136G>A (p.Val1046Met) single nucleotide variant not provided [RCV003327962] Chr9:137813486 [GRCh38]
Chr9:140707938 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.3209C>G (p.Ser1070Cys) single nucleotide variant not provided [RCV003149212] Chr9:137814459 [GRCh38]
Chr9:140708911 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.3241C>T (p.Arg1081Cys) single nucleotide variant not provided [RCV003129025] Chr9:137814491 [GRCh38]
Chr9:140708943 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.3617A>G (p.Asn1206Ser) single nucleotide variant Kleefstra syndrome 1 [RCV003094158]|See cases [RCV002252595] Chr9:137834425 [GRCh38]
Chr9:140728877 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.401C>T (p.Ala134Val) single nucleotide variant not provided [RCV003149199] Chr9:137716941 [GRCh38]
Chr9:140611393 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.2625del (p.Pro876_Met877insTer) deletion Kleefstra syndrome 1 [RCV002245285] Chr9:137800897 [GRCh38]
Chr9:140695349 [GRCh37]
Chr9:9q34.3
pathogenic
NM_024757.5(EHMT1):c.2852G>A (p.Arg951His) single nucleotide variant not provided [RCV003129397] Chr9:137811600 [GRCh38]
Chr9:140706052 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.3897_*6del (p.Ter1299TrpextTer?) deletion Neurodevelopmental disorder [RCV002277687] Chr9:137834953..137834959 [GRCh38]
Chr9:140729405..140729411 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.461C>A (p.Thr154Asn) single nucleotide variant not provided [RCV002273677] Chr9:137717001 [GRCh38]
Chr9:140611453 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.2405G>C (p.Cys802Ser) single nucleotide variant Kleefstra syndrome 1 [RCV003096191]|not provided [RCV002275776] Chr9:137790870 [GRCh38]
Chr9:140685322 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.2132T>C (p.Leu711Pro) single nucleotide variant Kleefstra syndrome 1 [RCV002267646] Chr9:137777995 [GRCh38]
Chr9:140672447 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.1180del (p.Glu394fs) deletion Kleefstra syndrome 1 [RCV002288354] Chr9:137752337 [GRCh38]
Chr9:140646789 [GRCh37]
Chr9:9q34.3
likely pathogenic
NM_024757.5(EHMT1):c.2799del (p.His933fs) deletion Kleefstra syndrome 1 [RCV002287267] Chr9:137811547 [GRCh38]
Chr9:140705999 [GRCh37]
Chr9:9q34.3
pathogenic
NM_024757.5(EHMT1):c.799A>T (p.Met267Leu) single nucleotide variant Inborn genetic diseases [RCV002419111] Chr9:137728505 [GRCh38]
Chr9:140622957 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.3108C>G (p.Ser1036Arg) single nucleotide variant not provided [RCV002274795] Chr9:137813458 [GRCh38]
Chr9:140707910 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.2651A>G (p.Lys884Arg) single nucleotide variant not provided [RCV002269428] Chr9:137800923 [GRCh38]
Chr9:140695375 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.1451T>C (p.Leu484Pro) single nucleotide variant not provided [RCV002291445] Chr9:137757961 [GRCh38]
Chr9:140652413 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.190A>T (p.Ser64Cys) single nucleotide variant not specified [RCV002281747] Chr9:137716730 [GRCh38]
Chr9:140611182 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.21+6C>T single nucleotide variant not provided [RCV002276468] Chr9:137619055 [GRCh38]
Chr9:140513507 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.2476A>C (p.Ile826Leu) single nucleotide variant not provided [RCV002276469] Chr9:137790941 [GRCh38]
Chr9:140685393 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.294_297del (p.Arg99fs) deletion Kleefstra syndrome 1 [RCV002289361] Chr9:137716831..137716834 [GRCh38]
Chr9:140611283..140611286 [GRCh37]
Chr9:9q34.3
pathogenic
NM_024757.5(EHMT1):c.2473C>T (p.Leu825Phe) single nucleotide variant not provided [RCV002269728] Chr9:137790938 [GRCh38]
Chr9:140685390 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.3212G>C (p.Ser1071Thr) single nucleotide variant Inborn genetic diseases [RCV003096103]|Kleefstra syndrome 1 [RCV003096104]|not provided [RCV002269755] Chr9:137814462 [GRCh38]
Chr9:140708914 [GRCh37]
Chr9:9q34.3
likely benign|uncertain significance
NM_024757.5(EHMT1):c.3245G>C (p.Cys1082Ser) single nucleotide variant not provided [RCV002285894] Chr9:137814495 [GRCh38]
Chr9:140708947 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.546dup (p.Ser183fs) duplication not provided [RCV002265156] Chr9:137717082..137717083 [GRCh38]
Chr9:140611534..140611535 [GRCh37]
Chr9:9q34.3
likely pathogenic
NM_024757.5(EHMT1):c.1148C>G (p.Ser383Trp) single nucleotide variant not provided [RCV002293935] Chr9:137744068 [GRCh38]
Chr9:140638520 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.512C>G (p.Thr171Arg) single nucleotide variant not provided [RCV002263528] Chr9:137717052 [GRCh38]
Chr9:140611504 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.3345_3361del (p.Cys1115_Gln1121delinsTer) deletion Kleefstra syndrome 1 [RCV002294581] Chr9:137816033..137816049 [GRCh38]
Chr9:140710485..140710501 [GRCh37]
Chr9:9q34.3
likely pathogenic
NM_024757.5(EHMT1):c.1076A>G (p.Asp359Gly) single nucleotide variant not provided [RCV002265280] Chr9:137743996 [GRCh38]
Chr9:140638448 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.1919_1923dup (p.Ile642Ter) duplication Kleefstra syndrome 1 [RCV002288390] Chr9:137776743..137776744 [GRCh38]
Chr9:140671195..140671196 [GRCh37]
Chr9:9q34.3
likely pathogenic
NM_024757.5(EHMT1):c.1792-21_1800del deletion Kleefstra syndrome 1 [RCV003233382] Chr9:137776591..137776620 [GRCh38]
Chr9:140671043..140671072 [GRCh37]
Chr9:9q34.3
pathogenic
NM_024757.5(EHMT1):c.2574G>A (p.Leu858=) single nucleotide variant not provided [RCV002290919] Chr9:137798881 [GRCh38]
Chr9:140693333 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.19G>C (p.Glu7Gln) single nucleotide variant not provided [RCV002283162] Chr9:137619047 [GRCh38]
Chr9:140513499 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.3784A>T (p.Lys1262Ter) single nucleotide variant Inborn genetic diseases [RCV002351159] Chr9:137834840 [GRCh38]
Chr9:140729292 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.2865C>A (p.Val955=) single nucleotide variant Inborn genetic diseases [RCV002437616] Chr9:137811613 [GRCh38]
Chr9:140706065 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.953G>A (p.Ser318Asn) single nucleotide variant Inborn genetic diseases [RCV002385160] Chr9:137743500 [GRCh38]
Chr9:140637952 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.2054T>C (p.Leu685Pro) single nucleotide variant not provided [RCV003156461] Chr9:137777917 [GRCh38]
Chr9:140672369 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.1306C>A (p.Pro436Thr) single nucleotide variant not provided [RCV002474093] Chr9:137754228 [GRCh38]
Chr9:140648680 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.2525G>A (p.Cys842Tyr) single nucleotide variant Kleefstra syndrome 1 [RCV002471975] Chr9:137798832 [GRCh38]
Chr9:140693284 [GRCh37]
Chr9:9q34.3
likely pathogenic
NM_024757.5(EHMT1):c.3540G>A (p.Lys1180=) single nucleotide variant Kleefstra syndrome 1 [RCV002469937] Chr9:137818138 [GRCh38]
Chr9:140712590 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.411G>A (p.Leu137=) single nucleotide variant Kleefstra syndrome 1 [RCV002726780] Chr9:137716951 [GRCh38]
Chr9:140611403 [GRCh37]
Chr9:9q34.3
benign
NM_024757.5(EHMT1):c.3461+18T>A single nucleotide variant Kleefstra syndrome 1 [RCV002991365] Chr9:137817543 [GRCh38]
Chr9:140711995 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.3405C>A (p.Asp1135Glu) single nucleotide variant Kleefstra syndrome 1 [RCV003103181]|not provided [RCV002464884] Chr9:137817469 [GRCh38]
Chr9:140711921 [GRCh37]
Chr9:9q34.3
likely pathogenic|uncertain significance
NM_024757.5(EHMT1):c.1845A>T (p.Lys615Asn) single nucleotide variant Kleefstra syndrome 1 [RCV002470386] Chr9:137776671 [GRCh38]
Chr9:140671123 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.903G>T (p.Lys301Asn) single nucleotide variant Inborn genetic diseases [RCV003287701] Chr9:137743450 [GRCh38]
Chr9:140637902 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.2036T>C (p.Leu679Pro) single nucleotide variant Kleefstra syndrome 1 [RCV002614372] Chr9:137777899 [GRCh38]
Chr9:140672351 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.2125C>G (p.Pro709Ala) single nucleotide variant Inborn genetic diseases [RCV002417685] Chr9:137777988 [GRCh38]
Chr9:140672440 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.2426C>G (p.Pro809Arg) single nucleotide variant Inborn genetic diseases [RCV002459841] Chr9:137790891 [GRCh38]
Chr9:140685343 [GRCh37]
Chr9:9q34.3
likely pathogenic
NM_024757.5(EHMT1):c.1046A>T (p.Asp349Val) single nucleotide variant not provided [RCV003234455] Chr9:137743966 [GRCh38]
Chr9:140638418 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.3624G>A (p.Val1208=) single nucleotide variant Inborn genetic diseases [RCV002460317] Chr9:137834432 [GRCh38]
Chr9:140728884 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.1218G>C (p.Glu406Asp) single nucleotide variant not provided [RCV003149433] Chr9:137752378 [GRCh38]
Chr9:140646830 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.2313G>C (p.Gln771His) single nucleotide variant Kleefstra syndrome 1 [RCV002305074] Chr9:137782328 [GRCh38]
Chr9:140676780 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.877A>C (p.Met293Leu) single nucleotide variant Kleefstra syndrome 1 [RCV002296672] Chr9:137743424 [GRCh38]
Chr9:140637876 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.-5G>A single nucleotide variant Inborn genetic diseases [RCV002357993]|not provided [RCV003320886] Chr9:137619024 [GRCh38]
Chr9:140513476 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.755C>A (p.Pro252His) single nucleotide variant Inborn genetic diseases [RCV002394007]|Kleefstra syndrome 1 [RCV003146548] Chr9:137728461 [GRCh38]
Chr9:140622913 [GRCh37]
Chr9:9q34.3
likely benign|uncertain significance
NM_024757.5(EHMT1):c.1600A>G (p.Thr534Ala) single nucleotide variant Kleefstra syndrome 1 [RCV002295852] Chr9:137762773 [GRCh38]
Chr9:140657225 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.824-4_824-3del deletion Inborn genetic diseases [RCV002430136] Chr9:137743353..137743354 [GRCh38]
Chr9:140637805..140637806 [GRCh37]
Chr9:9q34.3
benign
NM_024757.5(EHMT1):c.336C>T (p.Asp112=) single nucleotide variant Inborn genetic diseases [RCV002451720]|Kleefstra syndrome 1 [RCV003099433] Chr9:137716876 [GRCh38]
Chr9:140611328 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.2155A>G (p.Thr719Ala) single nucleotide variant Kleefstra syndrome 1 [RCV002298315] Chr9:137778018 [GRCh38]
Chr9:140672470 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.1226_1228dup (p.Glu409_Gly410insGlu) duplication not provided [RCV002306112] Chr9:137752384..137752385 [GRCh38]
Chr9:140646836..140646837 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.2993C>G (p.Ser998Trp) single nucleotide variant not provided [RCV002308901] Chr9:137813131 [GRCh38]
Chr9:140707583 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.3574T>C (p.Tyr1192His) single nucleotide variant not provided [RCV002302620] Chr9:137834382 [GRCh38]
Chr9:140728834 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.2483_2488delinsGA (p.Ala828fs) indel Inborn genetic diseases [RCV002430815] Chr9:137790948..137790953 [GRCh38]
Chr9:140685400..140685405 [GRCh37]
Chr9:9q34.3
pathogenic
NM_024757.5(EHMT1):c.2285T>C (p.Ile762Thr) single nucleotide variant Kleefstra syndrome 1 [RCV002301798] Chr9:137782300 [GRCh38]
Chr9:140676752 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.2996C>G (p.Ala999Gly) single nucleotide variant Kleefstra syndrome 1 [RCV002299863] Chr9:137813134 [GRCh38]
Chr9:140707586 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.3191G>A (p.Cys1064Tyr) single nucleotide variant Inborn genetic diseases [RCV002322873] Chr9:137814441 [GRCh38]
Chr9:140708893 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.3113A>C (p.Tyr1038Ser) single nucleotide variant Inborn genetic diseases [RCV002326114] Chr9:137813463 [GRCh38]
Chr9:140707915 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.749_750delinsG (p.Leu250fs) indel Inborn genetic diseases [RCV002391559] Chr9:137728455..137728456 [GRCh38]
Chr9:140622907..140622908 [GRCh37]
Chr9:9q34.3
pathogenic
NM_024757.5(EHMT1):c.271A>G (p.Ile91Val) single nucleotide variant Kleefstra syndrome 1 [RCV002296170] Chr9:137716811 [GRCh38]
Chr9:140611263 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.1249-10G>T single nucleotide variant Kleefstra syndrome 1 [RCV002971793] Chr9:137754161 [GRCh38]
Chr9:140648613 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.1171-18G>A single nucleotide variant Kleefstra syndrome 1 [RCV003074547] Chr9:137752313 [GRCh38]
Chr9:140646765 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.1296G>C (p.Lys432Asn) single nucleotide variant EHMT1-related condition [RCV003427510]|Kleefstra syndrome 1 [RCV002839129] Chr9:137754218 [GRCh38]
Chr9:140648670 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.2275+9C>T single nucleotide variant Kleefstra syndrome 1 [RCV002750864] Chr9:137779726 [GRCh38]
Chr9:140674178 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.1510A>G (p.Asn504Asp) single nucleotide variant Kleefstra syndrome 1 [RCV002858459] Chr9:137762683 [GRCh38]
Chr9:140657135 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.3220A>G (p.Met1074Val) single nucleotide variant Kleefstra syndrome 1 [RCV002994766] Chr9:137814470 [GRCh38]
Chr9:140708922 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.3313T>C (p.Cys1105Arg) single nucleotide variant Kleefstra syndrome 1 [RCV002904576] Chr9:137816001 [GRCh38]
Chr9:140710453 [GRCh37]
Chr9:9q34.3
likely pathogenic
NM_024757.5(EHMT1):c.3153C>T (p.Asn1051=) single nucleotide variant Kleefstra syndrome 1 [RCV003075377] Chr9:137813503 [GRCh38]
Chr9:140707955 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.1448C>G (p.Ser483Cys) single nucleotide variant Kleefstra syndrome 1 [RCV002776182] Chr9:137757958 [GRCh38]
Chr9:140652410 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.3042C>A (p.Ile1014=) single nucleotide variant Kleefstra syndrome 1 [RCV002838758] Chr9:137813392 [GRCh38]
Chr9:140707844 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.3461+14T>C single nucleotide variant Kleefstra syndrome 1 [RCV002815306] Chr9:137817539 [GRCh38]
Chr9:140711991 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.3541-20_3541-19delinsTT indel Kleefstra syndrome 1 [RCV002816227] Chr9:137834329..137834330 [GRCh38]
Chr9:140728781..140728782 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.1607_1631delinsTTGTTGGCCAGTG (p.Ala536_Glu544delinsValValGlyGlnTrp) indel Kleefstra syndrome 1 [RCV002858019] Chr9:137762780..137762804 [GRCh38]
Chr9:140657232..140657256 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.1956A>G (p.Thr652=) single nucleotide variant Kleefstra syndrome 1 [RCV002995225] Chr9:137776782 [GRCh38]
Chr9:140671234 [GRCh37]
Chr9:9q34.3
benign
NM_024757.5(EHMT1):c.682A>G (p.Arg228Gly) single nucleotide variant Kleefstra syndrome 1 [RCV002948017] Chr9:137728388 [GRCh38]
Chr9:140622840 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.3276A>G (p.Pro1092=) single nucleotide variant Kleefstra syndrome 1 [RCV002996959] Chr9:137815964 [GRCh38]
Chr9:140710416 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.21+14_21+23dup duplication Kleefstra syndrome 1 [RCV002681559] Chr9:137619058..137619059 [GRCh38]
Chr9:140513510..140513511 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.1501+3G>C single nucleotide variant Kleefstra syndrome 1 [RCV002863638] Chr9:137758014 [GRCh38]
Chr9:140652466 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.3461+16G>A single nucleotide variant Kleefstra syndrome 1 [RCV002755985] Chr9:137817541 [GRCh38]
Chr9:140711993 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.2374C>G (p.Leu792Val) single nucleotide variant Kleefstra syndrome 1 [RCV003017763] Chr9:137782389 [GRCh38]
Chr9:140676841 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.2276-20A>G single nucleotide variant Kleefstra syndrome 1 [RCV002909140] Chr9:137782271 [GRCh38]
Chr9:140676723 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.2534T>C (p.Leu845Pro) single nucleotide variant not provided [RCV002511461] Chr9:137798841 [GRCh38]
Chr9:140693293 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.1233T>A (p.Gly411=) single nucleotide variant Kleefstra syndrome 1 [RCV002863438] Chr9:137752393 [GRCh38]
Chr9:140646845 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.2505G>T (p.Lys835Asn) single nucleotide variant Kleefstra syndrome 1 [RCV003035204] Chr9:137790970 [GRCh38]
Chr9:140685422 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.2027G>T (p.Gly676Val) single nucleotide variant EHMT1-related condition [RCV003409938]|Kleefstra syndrome 1 [RCV002838771] Chr9:137777890 [GRCh38]
Chr9:140672342 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.3173A>G (p.His1058Arg) single nucleotide variant Kleefstra syndrome 1 [RCV003074110] Chr9:137813523 [GRCh38]
Chr9:140707975 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.1975A>G (p.Lys659Glu) single nucleotide variant Kleefstra syndrome 1 [RCV003012148] Chr9:137776801 [GRCh38]
Chr9:140671253 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.3783C>A (p.Pro1261=) single nucleotide variant Kleefstra syndrome 1 [RCV002685967] Chr9:137834839 [GRCh38]
Chr9:140729291 [GRCh37]
Chr9:9q34.3
benign
NM_024757.5(EHMT1):c.1502-5G>T single nucleotide variant Inborn genetic diseases [RCV002859962] Chr9:137762670 [GRCh38]
Chr9:140657122 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.1276T>C (p.Phe426Leu) single nucleotide variant Kleefstra syndrome 1 [RCV002861690] Chr9:137754198 [GRCh38]
Chr9:140648650 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.1792-17T>C single nucleotide variant Kleefstra syndrome 1 [RCV002842493] Chr9:137776601 [GRCh38]
Chr9:140671053 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.2398G>A (p.Asp800Asn) single nucleotide variant Kleefstra syndrome 1 [RCV003011784] Chr9:137790863 [GRCh38]
Chr9:140685315 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.2382+19C>G single nucleotide variant Kleefstra syndrome 1 [RCV002838570] Chr9:137782416 [GRCh38]
Chr9:140676868 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.2594A>C (p.Asp865Ala) single nucleotide variant not provided [RCV003156497] Chr9:137798901 [GRCh38]
Chr9:140693353 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.229G>C (p.Ala77Pro) single nucleotide variant Inborn genetic diseases [RCV002793474] Chr9:137716769 [GRCh38]
Chr9:140611221 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.1864A>G (p.Asn622Asp) single nucleotide variant Kleefstra syndrome 1 [RCV002842085] Chr9:137776690 [GRCh38]
Chr9:140671142 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.1748T>G (p.Val583Gly) single nucleotide variant Kleefstra syndrome 1 [RCV003017513] Chr9:137775209 [GRCh38]
Chr9:140669661 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.2383-16del deletion Kleefstra syndrome 1 [RCV002971395] Chr9:137790831 [GRCh38]
Chr9:140685283 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.1518A>G (p.Pro506=) single nucleotide variant Kleefstra syndrome 1 [RCV003015204] Chr9:137762691 [GRCh38]
Chr9:140657143 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.1069G>A (p.Glu357Lys) single nucleotide variant Kleefstra syndrome 1 [RCV002882323] Chr9:137743989 [GRCh38]
Chr9:140638441 [GRCh37]
Chr9:9q34.3
benign
NM_024757.5(EHMT1):c.20A>T (p.Glu7Val) single nucleotide variant not provided [RCV002462359] Chr9:137619048 [GRCh38]
Chr9:140513500 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.643-1G>A single nucleotide variant Kleefstra syndrome 1 [RCV002907931] Chr9:137728348 [GRCh38]
Chr9:140622800 [GRCh37]
Chr9:9q34.3
likely pathogenic
NM_024757.5(EHMT1):c.21+15C>G single nucleotide variant Kleefstra syndrome 1 [RCV003017164] Chr9:137619064 [GRCh38]
Chr9:140513516 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.1458C>A (p.Ser486=) single nucleotide variant Kleefstra syndrome 1 [RCV002740339] Chr9:137757968 [GRCh38]
Chr9:140652420 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.855A>G (p.Val285=) single nucleotide variant Kleefstra syndrome 1 [RCV002913217] Chr9:137743402 [GRCh38]
Chr9:140637854 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.3047G>A (p.Arg1016Gln) single nucleotide variant Kleefstra syndrome 1 [RCV003003309] Chr9:137813397 [GRCh38]
Chr9:140707849 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.2331G>A (p.Leu777=) single nucleotide variant Kleefstra syndrome 1 [RCV002976292] Chr9:137782346 [GRCh38]
Chr9:140676798 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.982-18C>T single nucleotide variant Kleefstra syndrome 1 [RCV002623173] Chr9:137743884 [GRCh38]
Chr9:140638336 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.2877T>C (p.Leu959=) single nucleotide variant Kleefstra syndrome 1 [RCV002620775] Chr9:137813015 [GRCh38]
Chr9:140707467 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.573C>T (p.Leu191=) single nucleotide variant Kleefstra syndrome 1 [RCV003081421] Chr9:137717113 [GRCh38]
Chr9:140611565 [GRCh37]
Chr9:9q34.3
benign
NM_024757.5(EHMT1):c.793T>C (p.Cys265Arg) single nucleotide variant Inborn genetic diseases [RCV002708009] Chr9:137728499 [GRCh38]
Chr9:140622951 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.86-16del deletion Kleefstra syndrome 1 [RCV002847097] Chr9:137716610 [GRCh38]
Chr9:140611062 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.643-19C>T single nucleotide variant Kleefstra syndrome 1 [RCV003078099] Chr9:137728330 [GRCh38]
Chr9:140622782 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.1438A>G (p.Met480Val) single nucleotide variant Kleefstra syndrome 1 [RCV002659683] Chr9:137757948 [GRCh38]
Chr9:140652400 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.1731C>T (p.Asp577=) single nucleotide variant Kleefstra syndrome 1 [RCV002846394] Chr9:137775192 [GRCh38]
Chr9:140669644 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.2505+1G>A single nucleotide variant Kleefstra syndrome 1 [RCV003018269] Chr9:137790971 [GRCh38]
Chr9:140685423 [GRCh37]
Chr9:9q34.3
likely pathogenic
NM_024757.5(EHMT1):c.859C>T (p.Arg287Trp) single nucleotide variant Kleefstra syndrome 1 [RCV002735073] Chr9:137743406 [GRCh38]
Chr9:140637858 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.1232G>T (p.Gly411Val) single nucleotide variant Kleefstra syndrome 1 [RCV002999703] Chr9:137752392 [GRCh38]
Chr9:140646844 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.60T>C (p.Cys20=) single nucleotide variant Kleefstra syndrome 1 [RCV002867081] Chr9:137711005 [GRCh38]
Chr9:140605457 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.3886G>A (p.Asp1296Asn) single nucleotide variant Kleefstra syndrome 1 [RCV003037512] Chr9:137834942 [GRCh38]
Chr9:140729394 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.1872C>T (p.Ala624=) single nucleotide variant Kleefstra syndrome 1 [RCV002705772] Chr9:137776698 [GRCh38]
Chr9:140671150 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.2607+14C>T single nucleotide variant Kleefstra syndrome 1 [RCV002621055] Chr9:137798928 [GRCh38]
Chr9:140693380 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.2382+16G>A single nucleotide variant Kleefstra syndrome 1 [RCV002886469] Chr9:137782413 [GRCh38]
Chr9:140676865 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.1580C>T (p.Pro527Leu) single nucleotide variant Inborn genetic diseases [RCV002887545] Chr9:137762753 [GRCh38]
Chr9:140657205 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.828C>G (p.Cys276Trp) single nucleotide variant Inborn genetic diseases [RCV002694444] Chr9:137743375 [GRCh38]
Chr9:140637827 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.2383-7T>C single nucleotide variant Kleefstra syndrome 1 [RCV003077917] Chr9:137790841 [GRCh38]
Chr9:140685293 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.3717-18G>T single nucleotide variant Kleefstra syndrome 1 [RCV002998998] Chr9:137834755 [GRCh38]
Chr9:140729207 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.3258+10G>A single nucleotide variant Kleefstra syndrome 1 [RCV002592699] Chr9:137814518 [GRCh38]
Chr9:140708970 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.280A>C (p.Asn94His) single nucleotide variant Kleefstra syndrome 1 [RCV002948844] Chr9:137716820 [GRCh38]
Chr9:140611272 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.3701C>T (p.Ala1234Val) single nucleotide variant Kleefstra syndrome 1 [RCV003038710] Chr9:137834509 [GRCh38]
Chr9:140728961 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.2019-8C>T single nucleotide variant Kleefstra syndrome 1 [RCV002800031] Chr9:137777874 [GRCh38]
Chr9:140672326 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.2235C>T (p.Ser745=) single nucleotide variant Kleefstra syndrome 1 [RCV002927023] Chr9:137779677 [GRCh38]
Chr9:140674129 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.338A>G (p.Asp113Gly) single nucleotide variant Kleefstra syndrome 1 [RCV002695506] Chr9:137716878 [GRCh38]
Chr9:140611330 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.3604C>T (p.His1202Tyr) single nucleotide variant Kleefstra syndrome 1 [RCV003078533] Chr9:137834412 [GRCh38]
Chr9:140728864 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.66A>T (p.Lys22Asn) single nucleotide variant Kleefstra syndrome 1 [RCV002847275] Chr9:137711011 [GRCh38]
Chr9:140605463 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.543G>A (p.Glu181=) single nucleotide variant Kleefstra syndrome 1 [RCV002622426] Chr9:137717083 [GRCh38]
Chr9:140611535 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.36G>T (p.Arg12Ser) single nucleotide variant Kleefstra syndrome 1 [RCV003078830] Chr9:137710981 [GRCh38]
Chr9:140605433 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.511A>C (p.Thr171Pro) single nucleotide variant Kleefstra syndrome 1 [RCV002591495] Chr9:137717051 [GRCh38]
Chr9:140611503 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.2109G>A (p.Gly703=) single nucleotide variant Kleefstra syndrome 1 [RCV002592326] Chr9:137777972 [GRCh38]
Chr9:140672424 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.3035+19C>T single nucleotide variant Kleefstra syndrome 1 [RCV002695372] Chr9:137813192 [GRCh38]
Chr9:140707644 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.152A>T (p.Asp51Val) single nucleotide variant Kleefstra syndrome 1 [RCV003054446] Chr9:137716692 [GRCh38]
Chr9:140611144 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.3686C>G (p.Thr1229Ser) single nucleotide variant Kleefstra syndrome 1 [RCV002948538] Chr9:137834494 [GRCh38]
Chr9:140728946 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.2102C>T (p.Pro701Leu) single nucleotide variant Kleefstra syndrome 1 [RCV002619923] Chr9:137777965 [GRCh38]
Chr9:140672417 [GRCh37]
Chr9:9q34.3
benign
NM_024757.5(EHMT1):c.3716+19C>G single nucleotide variant Kleefstra syndrome 1 [RCV002620629] Chr9:137834543 [GRCh38]
Chr9:140728995 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.1800dup (p.Met601fs) duplication Kleefstra syndrome 1 [RCV002820520] Chr9:137776622..137776623 [GRCh38]
Chr9:140671074..140671075 [GRCh37]
Chr9:9q34.3
pathogenic
NM_024757.5(EHMT1):c.3036-10T>A single nucleotide variant Kleefstra syndrome 1 [RCV002820584] Chr9:137813376 [GRCh38]
Chr9:140707828 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.2424C>G (p.Thr808=) single nucleotide variant Kleefstra syndrome 1 [RCV003078328] Chr9:137790889 [GRCh38]
Chr9:140685341 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.3132C>T (p.Asn1044=) single nucleotide variant Kleefstra syndrome 1 [RCV003036438] Chr9:137813482 [GRCh38]
Chr9:140707934 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.3249G>C (p.Trp1083Cys) single nucleotide variant Kleefstra syndrome 1 [RCV003019759] Chr9:137814499 [GRCh38]
Chr9:140708951 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.2448C>T (p.Asn816=) single nucleotide variant Kleefstra syndrome 1 [RCV002847742] Chr9:137790913 [GRCh38]
Chr9:140685365 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.2085C>G (p.Gly695=) single nucleotide variant Kleefstra syndrome 1 [RCV003019005] Chr9:137777948 [GRCh38]
Chr9:140672400 [GRCh37]
Chr9:9q34.3
benign
NM_024757.5(EHMT1):c.643-9G>T single nucleotide variant Kleefstra syndrome 1 [RCV002846331] Chr9:137728340 [GRCh38]
Chr9:140622792 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.2001C>T (p.Ala667=) single nucleotide variant Kleefstra syndrome 1 [RCV002639795] Chr9:137776827 [GRCh38]
Chr9:140671279 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.1370-1G>C single nucleotide variant Kleefstra syndrome 1 [RCV002662530] Chr9:137757879 [GRCh38]
Chr9:140652331 [GRCh37]
Chr9:9q34.3
likely pathogenic
NM_024757.5(EHMT1):c.1372T>C (p.Ser458Pro) single nucleotide variant Kleefstra syndrome 1 [RCV003035278] Chr9:137757882 [GRCh38]
Chr9:140652334 [GRCh37]
Chr9:9q34.3
benign
NM_024757.5(EHMT1):c.1053C>T (p.Asp351=) single nucleotide variant Kleefstra syndrome 1 [RCV002891148] Chr9:137743973 [GRCh38]
Chr9:140638425 [GRCh37]
Chr9:9q34.3
benign
NM_024757.5(EHMT1):c.269G>C (p.Arg90Pro) single nucleotide variant Kleefstra syndrome 1 [RCV002876139] Chr9:137716809 [GRCh38]
Chr9:140611261 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.345G>T (p.Val115=) single nucleotide variant Kleefstra syndrome 1 [RCV002932180] Chr9:137716885 [GRCh38]
Chr9:140611337 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.3206C>T (p.Ser1069Phe) single nucleotide variant Kleefstra syndrome 1 [RCV003059267] Chr9:137814456 [GRCh38]
Chr9:140708908 [GRCh37]
Chr9:9q34.3
benign
NM_024757.5(EHMT1):c.268C>A (p.Arg90=) single nucleotide variant Kleefstra syndrome 1 [RCV002711827] Chr9:137716808 [GRCh38]
Chr9:140611260 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.1085A>G (p.His362Arg) single nucleotide variant Kleefstra syndrome 1 [RCV002918851] Chr9:137744005 [GRCh38]
Chr9:140638457 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.294A>G (p.Glu98=) single nucleotide variant Kleefstra syndrome 1 [RCV002805927] Chr9:137716834 [GRCh38]
Chr9:140611286 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.2439A>G (p.Ala813=) single nucleotide variant Kleefstra syndrome 1 [RCV003084837] Chr9:137790904 [GRCh38]
Chr9:140685356 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.243C>T (p.Pro81=) single nucleotide variant Kleefstra syndrome 1 [RCV002850989] Chr9:137716783 [GRCh38]
Chr9:140611235 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.3750A>G (p.Lys1250=) single nucleotide variant Kleefstra syndrome 1 [RCV002828421] Chr9:137834806 [GRCh38]
Chr9:140729258 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.2851C>T (p.Arg951Cys) single nucleotide variant Kleefstra syndrome 1 [RCV002766188] Chr9:137811599 [GRCh38]
Chr9:140706051 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.419C>G (p.Thr140Ser) single nucleotide variant Kleefstra syndrome 1 [RCV003006282] Chr9:137716959 [GRCh38]
Chr9:140611411 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.622C>T (p.Pro208Ser) single nucleotide variant Kleefstra syndrome 1 [RCV002890318] Chr9:137717162 [GRCh38]
Chr9:140611614 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.643-13C>T single nucleotide variant Kleefstra syndrome 1 [RCV002597186] Chr9:137728336 [GRCh38]
Chr9:140622788 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.3181-14G>A single nucleotide variant Kleefstra syndrome 1 [RCV003058839] Chr9:137814417 [GRCh38]
Chr9:140708869 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.1698C>T (p.Ser566=) single nucleotide variant Kleefstra syndrome 1 [RCV002895048] Chr9:137775159 [GRCh38]
Chr9:140669611 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.3610G>A (p.Glu1204Lys) single nucleotide variant Kleefstra syndrome 1 [RCV003056246] Chr9:137834418 [GRCh38]
Chr9:140728870 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.3374+8G>A single nucleotide variant Kleefstra syndrome 1 [RCV003007812] Chr9:137816070 [GRCh38]
Chr9:140710522 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.1603C>G (p.Leu535Val) single nucleotide variant not provided [RCV003059831] Chr9:137762776 [GRCh38]
Chr9:140657228 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.269G>A (p.Arg90Gln) single nucleotide variant Kleefstra syndrome 1 [RCV003085912] Chr9:137716809 [GRCh38]
Chr9:140611261 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.230C>A (p.Ala77Glu) single nucleotide variant Kleefstra syndrome 1 [RCV003025258] Chr9:137716770 [GRCh38]
Chr9:140611222 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.2505+12T>G single nucleotide variant Kleefstra syndrome 1 [RCV002711559] Chr9:137790982 [GRCh38]
Chr9:140685434 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.1957C>G (p.Pro653Ala) single nucleotide variant Kleefstra syndrome 1 [RCV002958135] Chr9:137776783 [GRCh38]
Chr9:140671235 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.2122_2127dup (p.Pro709_Gly710insThrPro) duplication Kleefstra syndrome 1 [RCV002852750] Chr9:137777984..137777985 [GRCh38]
Chr9:140672436..140672437 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.2995del (p.Ala999fs) deletion Kleefstra syndrome 1 [RCV002627033] Chr9:137813132 [GRCh38]
Chr9:140707584 [GRCh37]
Chr9:9q34.3
pathogenic
NM_024757.5(EHMT1):c.2160G>A (p.Leu720=) single nucleotide variant Kleefstra syndrome 1 [RCV002575596] Chr9:137778023 [GRCh38]
Chr9:140672475 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.1179G>A (p.Gly393=) single nucleotide variant Kleefstra syndrome 1 [RCV002932070] Chr9:137752339 [GRCh38]
Chr9:140646791 [GRCh37]
Chr9:9q34.3
benign
NM_024757.5(EHMT1):c.252C>T (p.Gly84=) single nucleotide variant Kleefstra syndrome 1 [RCV003085781] Chr9:137716792 [GRCh38]
Chr9:140611244 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.3324G>T (p.Ala1108=) single nucleotide variant Kleefstra syndrome 1 [RCV003056500] Chr9:137816012 [GRCh38]
Chr9:140710464 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.2382+12C>G single nucleotide variant Kleefstra syndrome 1 [RCV002983100] Chr9:137782409 [GRCh38]
Chr9:140676861 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.3570G>T (p.Arg1190=) single nucleotide variant Kleefstra syndrome 1 [RCV003041704] Chr9:137834378 [GRCh38]
Chr9:140728830 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.588C>T (p.Ala196=) single nucleotide variant Kleefstra syndrome 1 [RCV002595292] Chr9:137717128 [GRCh38]
Chr9:140611580 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.272T>G (p.Ile91Arg) single nucleotide variant Kleefstra syndrome 1 [RCV003041897] Chr9:137716812 [GRCh38]
Chr9:140611264 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.86-19C>G single nucleotide variant Kleefstra syndrome 1 [RCV002872601] Chr9:137716607 [GRCh38]
Chr9:140611059 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.1058C>G (p.Ser353Ter) single nucleotide variant Kleefstra syndrome 1 [RCV002872122] Chr9:137743978 [GRCh38]
Chr9:140638430 [GRCh37]
Chr9:9q34.3
pathogenic
NM_024757.5(EHMT1):c.13G>T (p.Asp5Tyr) single nucleotide variant Kleefstra syndrome 1 [RCV002595494] Chr9:137619041 [GRCh38]
Chr9:140513493 [GRCh37]
Chr9:9q34.3
benign
NM_024757.5(EHMT1):c.451G>C (p.Ala151Pro) single nucleotide variant Kleefstra syndrome 1 [RCV002786683] Chr9:137716991 [GRCh38]
Chr9:140611443 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.2487G>C (p.Gly829=) single nucleotide variant Kleefstra syndrome 1 [RCV002872394] Chr9:137790952 [GRCh38]
Chr9:140685404 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.1635C>T (p.Ser545=) single nucleotide variant Kleefstra syndrome 1 [RCV002766392] Chr9:137762808 [GRCh38]
Chr9:140657260 [GRCh37]
Chr9:9q34.3
benign
NM_024757.5(EHMT1):c.2713-10G>A single nucleotide variant Kleefstra syndrome 1 [RCV002741182] Chr9:137811451 [GRCh38]
Chr9:140705903 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.3780C>G (p.Ser1260=) single nucleotide variant Kleefstra syndrome 1 [RCV002876539] Chr9:137834836 [GRCh38]
Chr9:140729288 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.2506-14C>T single nucleotide variant Kleefstra syndrome 1 [RCV003022478] Chr9:137798799 [GRCh38]
Chr9:140693251 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.1249-18G>T single nucleotide variant Kleefstra syndrome 1 [RCV002852411] Chr9:137754153 [GRCh38]
Chr9:140648605 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.2823G>A (p.Ser941=) single nucleotide variant Kleefstra syndrome 1 [RCV002928541] Chr9:137811571 [GRCh38]
Chr9:140706023 [GRCh37]
Chr9:9q34.3
benign
NM_024757.5(EHMT1):c.3187G>A (p.Val1063Met) single nucleotide variant Kleefstra syndrome 1 [RCV003058398] Chr9:137814437 [GRCh38]
Chr9:140708889 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.1717G>A (p.Val573Met) single nucleotide variant Kleefstra syndrome 1 [RCV002894898] Chr9:137775178 [GRCh38]
Chr9:140669630 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.3488C>T (p.Ser1163Leu) single nucleotide variant Kleefstra syndrome 1 [RCV002573064] Chr9:137818086 [GRCh38]
Chr9:140712538 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.2867+18C>T single nucleotide variant Kleefstra syndrome 1 [RCV003025863] Chr9:137811633 [GRCh38]
Chr9:140706085 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.3687C>G (p.Thr1229=) single nucleotide variant Kleefstra syndrome 1 [RCV002801485] Chr9:137834495 [GRCh38]
Chr9:140728947 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.579C>T (p.Ala193=) single nucleotide variant Kleefstra syndrome 1 [RCV002932891] Chr9:137717119 [GRCh38]
Chr9:140611571 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.2023_2024delinsCT (p.Ala675Leu) indel Kleefstra syndrome 1 [RCV003059370] Chr9:137777886..137777887 [GRCh38]
Chr9:140672338..140672339 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.137C>G (p.Ala46Gly) single nucleotide variant Kleefstra syndrome 1 [RCV002829609] Chr9:137716677 [GRCh38]
Chr9:140611129 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.719dup (p.Asn240fs) duplication Kleefstra syndrome 1 [RCV002871624] Chr9:137728420..137728421 [GRCh38]
Chr9:140622872..140622873 [GRCh37]
Chr9:9q34.3
pathogenic
NM_024757.5(EHMT1):c.629C>G (p.Ser210Cys) single nucleotide variant Kleefstra syndrome 1 [RCV002982508] Chr9:137717169 [GRCh38]
Chr9:140611621 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.36G>A (p.Arg12=) single nucleotide variant Kleefstra syndrome 1 [RCV002852664] Chr9:137710981 [GRCh38]
Chr9:140605433 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.3374+5G>C single nucleotide variant Kleefstra syndrome 1 [RCV002894497] Chr9:137816067 [GRCh38]
Chr9:140710519 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.1123A>G (p.Ser375Gly) single nucleotide variant Kleefstra syndrome 1 [RCV002829230] Chr9:137744043 [GRCh38]
Chr9:140638495 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.2176G>A (p.Ala726Thr) single nucleotide variant Kleefstra syndrome 1 [RCV002626646] Chr9:137778039 [GRCh38]
Chr9:140672491 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.3541-4G>A single nucleotide variant Kleefstra syndrome 1 [RCV002575066] Chr9:137834345 [GRCh38]
Chr9:140728797 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.213_214delinsTA (p.Lys71_His72delinsAsnAsn) indel Kleefstra syndrome 1 [RCV002872340] Chr9:137716753..137716754 [GRCh38]
Chr9:140611205..140611206 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.196C>G (p.His66Asp) single nucleotide variant Kleefstra syndrome 1 [RCV002957282] Chr9:137716736 [GRCh38]
Chr9:140611188 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.1951G>C (p.Val651Leu) single nucleotide variant Kleefstra syndrome 1 [RCV002664069] Chr9:137776777 [GRCh38]
Chr9:140671229 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.3828C>G (p.Ser1276Arg) single nucleotide variant Kleefstra syndrome 1 [RCV003025312] Chr9:137834884 [GRCh38]
Chr9:140729336 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.2411A>G (p.Glu804Gly) single nucleotide variant Inborn genetic diseases [RCV002803628] Chr9:137790876 [GRCh38]
Chr9:140685328 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.478G>A (p.Gly160Ser) single nucleotide variant Kleefstra syndrome 1 [RCV002957730] Chr9:137717018 [GRCh38]
Chr9:140611470 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.147T>C (p.Ala49=) single nucleotide variant Kleefstra syndrome 1 [RCV002894361] Chr9:137716687 [GRCh38]
Chr9:140611139 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.3121G>A (p.Val1041Ile) single nucleotide variant Kleefstra syndrome 1 [RCV003084298] Chr9:137813471 [GRCh38]
Chr9:140707923 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.3779C>T (p.Ser1260Phe) single nucleotide variant Kleefstra syndrome 1 [RCV003031787] Chr9:137834835 [GRCh38]
Chr9:140729287 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.241C>T (p.Pro81Ser) single nucleotide variant Kleefstra syndrome 1 [RCV002602912] Chr9:137716781 [GRCh38]
Chr9:140611233 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.105T>A (p.Asp35Glu) single nucleotide variant Kleefstra syndrome 1 [RCV002633025] Chr9:137716645 [GRCh38]
Chr9:140611097 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.3376G>A (p.Ala1126Thr) single nucleotide variant Kleefstra syndrome 1 [RCV002791912] Chr9:137817440 [GRCh38]
Chr9:140711892 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.202A>C (p.Asn68His) single nucleotide variant Kleefstra syndrome 1 [RCV002597729] Chr9:137716742 [GRCh38]
Chr9:140611194 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.462C>T (p.Thr154=) single nucleotide variant Kleefstra syndrome 1 [RCV002628216] Chr9:137717002 [GRCh38]
Chr9:140611454 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.823+13C>T single nucleotide variant Kleefstra syndrome 1 [RCV002633027] Chr9:137728542 [GRCh38]
Chr9:140622994 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.3852C>T (p.Asp1284=) single nucleotide variant Kleefstra syndrome 1 [RCV002631907] Chr9:137834908 [GRCh38]
Chr9:140729360 [GRCh37]
Chr9:9q34.3
benign
NM_024757.5(EHMT1):c.474G>A (p.Gly158=) single nucleotide variant Kleefstra syndrome 1 [RCV002601091] Chr9:137717014 [GRCh38]
Chr9:140611466 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.3541-14T>G single nucleotide variant Kleefstra syndrome 1 [RCV003065384] Chr9:137834335 [GRCh38]
Chr9:140728787 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.1109T>G (p.Phe370Cys) single nucleotide variant Inborn genetic diseases [RCV002987971] Chr9:137744029 [GRCh38]
Chr9:140638481 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.1057_1080dup (p.Asp360_Gly361insSerGluGluLeuGluGluAspAsp) duplication Kleefstra syndrome 1 [RCV002811462] Chr9:137743967..137743968 [GRCh38]
Chr9:140638419..140638420 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.1126A>T (p.Arg376Trp) single nucleotide variant Kleefstra syndrome 1 [RCV002856451] Chr9:137744046 [GRCh38]
Chr9:140638498 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.180C>A (p.Asn60Lys) single nucleotide variant Kleefstra syndrome 1 [RCV003029002] Chr9:137716720 [GRCh38]
Chr9:140611172 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.2953G>A (p.Val985Met) single nucleotide variant Kleefstra syndrome 1 [RCV003009794] Chr9:137813091 [GRCh38]
Chr9:140707543 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.425C>T (p.Thr142Ile) single nucleotide variant Kleefstra syndrome 1 [RCV002715975]|not provided [RCV003318730] Chr9:137716965 [GRCh38]
Chr9:140611417 [GRCh37]
Chr9:9q34.3
benign|uncertain significance
NM_024757.5(EHMT1):c.3613C>T (p.Pro1205Ser) single nucleotide variant Kleefstra syndrome 1 [RCV002895561] Chr9:137834421 [GRCh38]
Chr9:140728873 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.3175C>G (p.Leu1059Val) single nucleotide variant Inborn genetic diseases [RCV002935578] Chr9:137813525 [GRCh38]
Chr9:140707977 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.1848C>G (p.Asp616Glu) single nucleotide variant Kleefstra syndrome 1 [RCV002791966] Chr9:137776674 [GRCh38]
Chr9:140671126 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.256A>C (p.Asn86His) single nucleotide variant Kleefstra syndrome 1 [RCV002628802] Chr9:137716796 [GRCh38]
Chr9:140611248 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.225C>G (p.Asp75Glu) single nucleotide variant Kleefstra syndrome 1 [RCV002717312] Chr9:137716765 [GRCh38]
Chr9:140611217 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.3890C>G (p.Pro1297Arg) single nucleotide variant Kleefstra syndrome 1 [RCV002630493]|not provided [RCV003151898] Chr9:137834946 [GRCh38]
Chr9:140729398 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.275C>T (p.Ala92Val) single nucleotide variant Kleefstra syndrome 1 [RCV002716840] Chr9:137716815 [GRCh38]
Chr9:140611267 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.3258+13T>C single nucleotide variant Kleefstra syndrome 1 [RCV002745986] Chr9:137814521 [GRCh38]
Chr9:140708973 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.388C>T (p.Pro130Ser) single nucleotide variant EHMT1-related condition [RCV003403882]|Kleefstra syndrome 1 [RCV002650327] Chr9:137716928 [GRCh38]
Chr9:140611380 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.714C>G (p.Asn238Lys) single nucleotide variant Kleefstra syndrome 1 [RCV002746250] Chr9:137728420 [GRCh38]
Chr9:140622872 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.14A>G (p.Asp5Gly) single nucleotide variant Kleefstra syndrome 1 [RCV002895783] Chr9:137619042 [GRCh38]
Chr9:140513494 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.2206C>T (p.Arg736Cys) single nucleotide variant Kleefstra syndrome 1 [RCV002937624] Chr9:137779648 [GRCh38]
Chr9:140674100 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.2607+15del deletion Kleefstra syndrome 1 [RCV002856973] Chr9:137798929 [GRCh38]
Chr9:140693381 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.563A>G (p.Asp188Gly) single nucleotide variant Kleefstra syndrome 1 [RCV002811543] Chr9:137717103 [GRCh38]
Chr9:140611555 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.3743A>G (p.Asp1248Gly) single nucleotide variant Kleefstra syndrome 1 [RCV003011602] Chr9:137834799 [GRCh38]
Chr9:140729251 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.2927T>C (p.Leu976Pro) single nucleotide variant Kleefstra syndrome 1 [RCV003031047] Chr9:137813065 [GRCh38]
Chr9:140707517 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.1662A>G (p.Thr554=) single nucleotide variant Kleefstra syndrome 1 [RCV002877258] Chr9:137775123 [GRCh38]
Chr9:140669575 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.3849G>A (p.Glu1283=) single nucleotide variant Kleefstra syndrome 1 [RCV003028685] Chr9:137834905 [GRCh38]
Chr9:140729357 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.530C>T (p.Ala177Val) single nucleotide variant Kleefstra syndrome 1 [RCV003029142] Chr9:137717070 [GRCh38]
Chr9:140611522 [GRCh37]
Chr9:9q34.3
benign
NM_024757.5(EHMT1):c.3791G>T (p.Arg1264Leu) single nucleotide variant Kleefstra syndrome 1 [RCV002806348] Chr9:137834847 [GRCh38]
Chr9:140729299 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.1859G>T (p.Arg620Leu) single nucleotide variant Kleefstra syndrome 1 [RCV003063843] Chr9:137776685 [GRCh38]
Chr9:140671137 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.1274A>C (p.Lys425Thr) single nucleotide variant Kleefstra syndrome 1 [RCV003064117] Chr9:137754196 [GRCh38]
Chr9:140648648 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.3541-12C>G single nucleotide variant Kleefstra syndrome 1 [RCV002900640] Chr9:137834337 [GRCh38]
Chr9:140728789 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.3801C>G (p.Ser1267Arg) single nucleotide variant Kleefstra syndrome 1 [RCV002628584] Chr9:137834857 [GRCh38]
Chr9:140729309 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.261A>G (p.Thr87=) single nucleotide variant Kleefstra syndrome 1 [RCV002939094] Chr9:137716801 [GRCh38]
Chr9:140611253 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.3035+15A>G single nucleotide variant Kleefstra syndrome 1 [RCV002939105] Chr9:137813188 [GRCh38]
Chr9:140707640 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.618C>G (p.Thr206=) single nucleotide variant Kleefstra syndrome 1 [RCV003030767] Chr9:137717158 [GRCh38]
Chr9:140611610 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.21+24dup duplication Kleefstra syndrome 1 [RCV003047410] Chr9:137619067..137619068 [GRCh38]
Chr9:140513519..140513520 [GRCh37]
Chr9:9q34.3
benign
NM_024757.5(EHMT1):c.1365C>T (p.Ala455=) single nucleotide variant Kleefstra syndrome 1 [RCV003030216] Chr9:137754287 [GRCh38]
Chr9:140648739 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.*6C>T single nucleotide variant not provided [RCV003059952] Chr9:137834959 [GRCh38]
Chr9:140729411 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.3540+16G>C single nucleotide variant Kleefstra syndrome 1 [RCV002811445] Chr9:137818154 [GRCh38]
Chr9:140712606 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.3716+14del deletion Kleefstra syndrome 1 [RCV002715279] Chr9:137834535 [GRCh38]
Chr9:140728987 [GRCh37]
Chr9:9q34.3
benign
NM_024757.5(EHMT1):c.1449T>A (p.Ser483=) single nucleotide variant Kleefstra syndrome 1 [RCV002898677] Chr9:137757959 [GRCh38]
Chr9:140652411 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.708G>C (p.Glu236Asp) single nucleotide variant Kleefstra syndrome 1 [RCV003048121] Chr9:137728414 [GRCh38]
Chr9:140622866 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.974G>A (p.Gly325Asp) single nucleotide variant Kleefstra syndrome 1 [RCV003027549] Chr9:137743521 [GRCh38]
Chr9:140637973 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.3461+3G>A single nucleotide variant Kleefstra syndrome 1 [RCV002600056] Chr9:137817528 [GRCh38]
Chr9:140711980 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.21+15C>A single nucleotide variant Kleefstra syndrome 1 [RCV003062872] Chr9:137619064 [GRCh38]
Chr9:140513516 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.100G>T (p.Ala34Ser) single nucleotide variant Kleefstra syndrome 1 [RCV002811639] Chr9:137716640 [GRCh38]
Chr9:140611092 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.3714C>T (p.Leu1238=) single nucleotide variant Kleefstra syndrome 1 [RCV003009644] Chr9:137834522 [GRCh38]
Chr9:140728974 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.21+24del deletion Kleefstra syndrome 1 [RCV002600635] Chr9:137619068 [GRCh38]
Chr9:140513520 [GRCh37]
Chr9:9q34.3
benign
NM_024757.5(EHMT1):c.3854G>A (p.Gly1285Asp) single nucleotide variant Kleefstra syndrome 1 [RCV002835183] Chr9:137834910 [GRCh38]
Chr9:140729362 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.107A>T (p.Glu36Val) single nucleotide variant Inborn genetic diseases [RCV003047916]|Kleefstra syndrome 1 [RCV003047915] Chr9:137716647 [GRCh38]
Chr9:140611099 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.642+14T>G single nucleotide variant Kleefstra syndrome 1 [RCV002770792] Chr9:137717196 [GRCh38]
Chr9:140611648 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.823+19C>T single nucleotide variant Kleefstra syndrome 1 [RCV002962817] Chr9:137728548 [GRCh38]
Chr9:140623000 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.1369+10G>A single nucleotide variant Kleefstra syndrome 1 [RCV003087236] Chr9:137754301 [GRCh38]
Chr9:140648753 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.1170+2T>C single nucleotide variant Kleefstra syndrome 1 [RCV002651008] Chr9:137744092 [GRCh38]
Chr9:140638544 [GRCh37]
Chr9:9q34.3
likely pathogenic
NM_024757.5(EHMT1):c.367A>G (p.Asn123Asp) single nucleotide variant Kleefstra syndrome 1 [RCV003028380] Chr9:137716907 [GRCh38]
Chr9:140611359 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.1824C>T (p.Ser608=) single nucleotide variant Kleefstra syndrome 1 [RCV002647965] Chr9:137776650 [GRCh38]
Chr9:140671102 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.1177G>A (p.Gly393Arg) single nucleotide variant Kleefstra syndrome 1 [RCV002895635] Chr9:137752337 [GRCh38]
Chr9:140646789 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.3688C>A (p.Arg1230Ser) single nucleotide variant Kleefstra syndrome 1 [RCV003026314] Chr9:137834496 [GRCh38]
Chr9:140728948 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.1877A>G (p.Tyr626Cys) single nucleotide variant Kleefstra syndrome 1 [RCV002580816]|not provided [RCV003439027] Chr9:137776703 [GRCh38]
Chr9:140671155 [GRCh37]
Chr9:9q34.3
likely benign|uncertain significance
NM_024757.5(EHMT1):c.3717-5C>T single nucleotide variant Kleefstra syndrome 1 [RCV002876973] Chr9:137834768 [GRCh38]
Chr9:140729220 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.2265C>G (p.Leu755=) single nucleotide variant Kleefstra syndrome 1 [RCV002833642] Chr9:137779707 [GRCh38]
Chr9:140674159 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.2619C>T (p.Gly873=) single nucleotide variant Kleefstra syndrome 1 [RCV002653278] Chr9:137800891 [GRCh38]
Chr9:140695343 [GRCh37]
Chr9:9q34.3
benign
NM_024757.5(EHMT1):c.3144C>T (p.Ser1048=) single nucleotide variant Kleefstra syndrome 1 [RCV002725284] Chr9:137813494 [GRCh38]
Chr9:140707946 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.2276-10T>G single nucleotide variant Kleefstra syndrome 1 [RCV002942487] Chr9:137782281 [GRCh38]
Chr9:140676733 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.152A>G (p.Asp51Gly) single nucleotide variant Kleefstra syndrome 1 [RCV002815137] Chr9:137716692 [GRCh38]
Chr9:140611144 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.2369A>T (p.His790Leu) single nucleotide variant Kleefstra syndrome 1 [RCV002654304] Chr9:137782384 [GRCh38]
Chr9:140676836 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.3270C>G (p.Leu1090=) single nucleotide variant Kleefstra syndrome 1 [RCV003049601] Chr9:137815958 [GRCh38]
Chr9:140710410 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.3853G>C (p.Gly1285Arg) single nucleotide variant Kleefstra syndrome 1 [RCV003093519] Chr9:137834909 [GRCh38]
Chr9:140729361 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.124C>G (p.Gln42Glu) single nucleotide variant Inborn genetic diseases [RCV002944503] Chr9:137716664 [GRCh38]
Chr9:140611116 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.824-19del deletion Kleefstra syndrome 1 [RCV002653836] Chr9:137743352 [GRCh38]
Chr9:140637804 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.3180+4A>G single nucleotide variant Kleefstra syndrome 1 [RCV003050191] Chr9:137813534 [GRCh38]
Chr9:140707986 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.39G>A (p.Gly13=) single nucleotide variant Kleefstra syndrome 1 [RCV002634079] Chr9:137710984 [GRCh38]
Chr9:140605436 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.1647+9G>T single nucleotide variant Kleefstra syndrome 1 [RCV002814413] Chr9:137762829 [GRCh38]
Chr9:140657281 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.347A>G (p.Gln116Arg) single nucleotide variant Kleefstra syndrome 1 [RCV002584406] Chr9:137716887 [GRCh38]
Chr9:140611339 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.1196A>G (p.Gln399Arg) single nucleotide variant Kleefstra syndrome 1 [RCV002586214] Chr9:137752356 [GRCh38]
Chr9:140646808 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.21+14C>T single nucleotide variant Kleefstra syndrome 1 [RCV003093527] Chr9:137619063 [GRCh38]
Chr9:140513515 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.36G>C (p.Arg12Ser) single nucleotide variant Kleefstra syndrome 1 [RCV002635779] Chr9:137710981 [GRCh38]
Chr9:140605433 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.86-15T>G single nucleotide variant Kleefstra syndrome 1 [RCV002587318] Chr9:137716611 [GRCh38]
Chr9:140611063 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.523C>G (p.Pro175Ala) single nucleotide variant Kleefstra syndrome 1 [RCV002814422] Chr9:137717063 [GRCh38]
Chr9:140611515 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.3723C>T (p.Asp1241=) single nucleotide variant Kleefstra syndrome 1 [RCV002588567] Chr9:137834779 [GRCh38]
Chr9:140729231 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.2857G>A (p.Asp953Asn) single nucleotide variant Kleefstra syndrome 1 [RCV003050021] Chr9:137811605 [GRCh38]
Chr9:140706057 [GRCh37]
Chr9:9q34.3
benign
NM_024757.5(EHMT1):c.497G>C (p.Ser166Thr) single nucleotide variant Kleefstra syndrome 1 [RCV003051447] Chr9:137717037 [GRCh38]
Chr9:140611489 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.642+18C>T single nucleotide variant Kleefstra syndrome 1 [RCV002612009] Chr9:137717200 [GRCh38]
Chr9:140611652 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.2690C>G (p.Ser897Cys) single nucleotide variant Kleefstra syndrome 1 [RCV002612026] Chr9:137800962 [GRCh38]
Chr9:140695414 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.1792-14C>T single nucleotide variant Kleefstra syndrome 1 [RCV002589687] Chr9:137776604 [GRCh38]
Chr9:140671056 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.1166A>G (p.Gln389Arg) single nucleotide variant Kleefstra syndrome 1 [RCV002612072] Chr9:137744086 [GRCh38]
Chr9:140638538 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.16G>C (p.Ala6Pro) single nucleotide variant Inborn genetic diseases [RCV002722655] Chr9:137619044 [GRCh38]
Chr9:140513496 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.3759C>T (p.Leu1253=) single nucleotide variant Kleefstra syndrome 1 [RCV002606624] Chr9:137834815 [GRCh38]
Chr9:140729267 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.12C>G (p.Ala4=) single nucleotide variant Kleefstra syndrome 1 [RCV002612337] Chr9:137619040 [GRCh38]
Chr9:140513492 [GRCh37]
Chr9:9q34.3
benign
NM_024757.5(EHMT1):c.3187G>T (p.Val1063Leu) single nucleotide variant Kleefstra syndrome 1 [RCV002586220] Chr9:137814437 [GRCh38]
Chr9:140708889 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.1949C>T (p.Thr650Ile) single nucleotide variant Kleefstra syndrome 1 [RCV002612520] Chr9:137776775 [GRCh38]
Chr9:140671227 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.496A>G (p.Ser166Gly) single nucleotide variant EHMT1-related condition [RCV003395619]|Kleefstra syndrome 1 [RCV002612521] Chr9:137717036 [GRCh38]
Chr9:140611488 [GRCh37]
Chr9:9q34.3
benign|uncertain significance
NM_024757.5(EHMT1):c.2555A>G (p.Tyr852Cys) single nucleotide variant not provided [RCV003154468] Chr9:137798862 [GRCh38]
Chr9:140693314 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.3028G>C (p.Val1010Leu) single nucleotide variant not provided [RCV003219107] Chr9:137813166 [GRCh38]
Chr9:140707618 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.2782G>A (p.Ala928Thr) single nucleotide variant not provided [RCV003221488] Chr9:137811530 [GRCh38]
Chr9:140705982 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.2270T>C (p.Met757Thr) single nucleotide variant Kleefstra syndrome 1 [RCV003225887] Chr9:137779712 [GRCh38]
Chr9:140674164 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.329C>T (p.Thr110Ile) single nucleotide variant Kleefstra syndrome 1 [RCV003147022] Chr9:137716869 [GRCh38]
Chr9:140611321 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.1331G>A (p.Arg444Lys) single nucleotide variant Kleefstra syndrome 1 [RCV003147023] Chr9:137754253 [GRCh38]
Chr9:140648705 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.1385A>G (p.Lys462Arg) single nucleotide variant Kleefstra syndrome 1 [RCV003147024] Chr9:137757895 [GRCh38]
Chr9:140652347 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.3406A>G (p.Met1136Val) single nucleotide variant Kleefstra syndrome 1 [RCV003147025] Chr9:137817470 [GRCh38]
Chr9:140711922 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.961C>T (p.His321Tyr) single nucleotide variant Kleefstra syndrome 1 [RCV003147026] Chr9:137743508 [GRCh38]
Chr9:140637960 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.3397A>G (p.Thr1133Ala) single nucleotide variant Kleefstra syndrome 1 [RCV003147028] Chr9:137817461 [GRCh38]
Chr9:140711913 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.1976A>G (p.Lys659Arg) single nucleotide variant not provided [RCV003224034] Chr9:137776802 [GRCh38]
Chr9:140671254 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.1051del (p.Asp351fs) deletion Kleefstra syndrome 1 [RCV003226110] Chr9:137743970 [GRCh38]
Chr9:140638422 [GRCh37]
Chr9:9q34.3
pathogenic
NM_024757.5(EHMT1):c.-5G>C single nucleotide variant not provided [RCV003328039] Chr9:137619024 [GRCh38]
Chr9:140513476 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.1896G>T (p.Glu632Asp) single nucleotide variant not provided [RCV003319938] Chr9:137776722 [GRCh38]
Chr9:140671174 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.744G>C (p.Gln248His) single nucleotide variant not provided [RCV003329026] Chr9:137728450 [GRCh38]
Chr9:140622902 [GRCh37]
Chr9:9q34.3
benign|uncertain significance
NM_024757.5(EHMT1):c.1069G>C (p.Glu357Gln) single nucleotide variant not provided [RCV003329852] Chr9:137743989 [GRCh38]
Chr9:140638441 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.1339A>C (p.Arg447=) single nucleotide variant not provided [RCV003327230] Chr9:137754261 [GRCh38]
Chr9:140648713 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.427C>G (p.Leu143Val) single nucleotide variant not provided [RCV003328933] Chr9:137716967 [GRCh38]
Chr9:140611419 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.2332C>T (p.His778Tyr) single nucleotide variant not provided [RCV003329012] Chr9:137782347 [GRCh38]
Chr9:140676799 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.2134T>C (p.Ser712Pro) single nucleotide variant Inborn genetic diseases [RCV003378720] Chr9:137777997 [GRCh38]
Chr9:140672449 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.3082G>T (p.Ala1028Ser) single nucleotide variant not specified [RCV003331596] Chr9:137813432 [GRCh38]
Chr9:140707884 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.3447C>T (p.Gly1149=) single nucleotide variant Inborn genetic diseases [RCV003349980] Chr9:137817511 [GRCh38]
Chr9:140711963 [GRCh37]
Chr9:9q34.3
likely pathogenic
NM_024757.5(EHMT1):c.3880G>C (p.Ala1294Pro) single nucleotide variant Inborn genetic diseases [RCV003385149] Chr9:137834936 [GRCh38]
Chr9:140729388 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.2262G>A (p.Val754=) single nucleotide variant Kleefstra syndrome 1 [RCV003503157] Chr9:137779704 [GRCh38]
Chr9:140674156 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.164A>T (p.Asn55Ile) single nucleotide variant Kleefstra syndrome 1 [RCV003503259] Chr9:137716704 [GRCh38]
Chr9:140611156 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.954C>T (p.Ser318=) single nucleotide variant Kleefstra syndrome 1 [RCV003503147] Chr9:137743501 [GRCh38]
Chr9:140637953 [GRCh37]
Chr9:9q34.3
benign
NM_024757.5(EHMT1):c.2867+14T>G single nucleotide variant Kleefstra syndrome 1 [RCV003503243] Chr9:137811629 [GRCh38]
Chr9:140706081 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.540G>A (p.Gly180=) single nucleotide variant Kleefstra syndrome 1 [RCV003503810] Chr9:137717080 [GRCh38]
Chr9:140611532 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.3101G>T (p.Cys1034Phe) single nucleotide variant Kleefstra syndrome 1 [RCV003503328] Chr9:137813451 [GRCh38]
Chr9:140707903 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.3295C>T (p.Pro1099Ser) single nucleotide variant Kleefstra syndrome 1 [RCV003503216] Chr9:137815983 [GRCh38]
Chr9:140710435 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.3G>A (p.Met1Ile) single nucleotide variant Kleefstra syndrome 1 [RCV003504014] Chr9:137619031 [GRCh38]
Chr9:140513483 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.3375-11C>T single nucleotide variant Kleefstra syndrome 1 [RCV003504024] Chr9:137817428 [GRCh38]
Chr9:140711880 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.955A>G (p.Ile319Val) single nucleotide variant Kleefstra syndrome 1 [RCV003503410] Chr9:137743502 [GRCh38]
Chr9:140637954 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.365G>A (p.Ser122Asn) single nucleotide variant Kleefstra syndrome 1 [RCV003503440] Chr9:137716905 [GRCh38]
Chr9:140611357 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.756C>G (p.Pro252=) single nucleotide variant Kleefstra syndrome 1 [RCV003503454] Chr9:137728462 [GRCh38]
Chr9:140622914 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.2505+13G>C single nucleotide variant Kleefstra syndrome 1 [RCV003503503] Chr9:137790983 [GRCh38]
Chr9:140685435 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.221A>T (p.Gln74Leu) single nucleotide variant Kleefstra syndrome 1 [RCV003503507] Chr9:137716761 [GRCh38]
Chr9:140611213 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.1962C>T (p.Val654=) single nucleotide variant Kleefstra syndrome 1 [RCV003503484] Chr9:137776788 [GRCh38]
Chr9:140671240 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.1197G>A (p.Gln399=) single nucleotide variant Kleefstra syndrome 1 [RCV003503690] Chr9:137752357 [GRCh38]
Chr9:140646809 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.1908G>A (p.Lys636=) single nucleotide variant Kleefstra syndrome 1 [RCV003503718] Chr9:137776734 [GRCh38]
Chr9:140671186 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.763T>A (p.Ser255Thr) single nucleotide variant Kleefstra syndrome 1 [RCV003503444] Chr9:137728469 [GRCh38]
Chr9:140622921 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.486C>G (p.Gly162=) single nucleotide variant Kleefstra syndrome 1 [RCV003503624] Chr9:137717026 [GRCh38]
Chr9:140611478 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.2123C>T (p.Thr708Ile) single nucleotide variant Kleefstra syndrome 1 [RCV003503548] Chr9:137777986 [GRCh38]
Chr9:140672438 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.2712+14_2712+15del microsatellite Kleefstra syndrome 1 [RCV003503888] Chr9:137800995..137800996 [GRCh38]
Chr9:140695447..140695448 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.1501+15G>A single nucleotide variant Kleefstra syndrome 1 [RCV003503900] Chr9:137758026 [GRCh38]
Chr9:140652478 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.415A>C (p.Thr139Pro) single nucleotide variant Kleefstra syndrome 1 [RCV003504041] Chr9:137716955 [GRCh38]
Chr9:140611407 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.384T>G (p.Asn128Lys) single nucleotide variant Kleefstra syndrome 1 [RCV003504055] Chr9:137716924 [GRCh38]
Chr9:140611376 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.969T>C (p.Thr323=) single nucleotide variant Kleefstra syndrome 1 [RCV003503744] Chr9:137743516 [GRCh38]
Chr9:140637968 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.3357C>T (p.Val1119=) single nucleotide variant Kleefstra syndrome 1 [RCV003503775] Chr9:137816045 [GRCh38]
Chr9:140710497 [GRCh37]
Chr9:9q34.3
benign
NM_024757.5(EHMT1):c.85+14G>A single nucleotide variant Kleefstra syndrome 1 [RCV003504284] Chr9:137711044 [GRCh38]
Chr9:140605496 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.1540C>G (p.Leu514Val) single nucleotide variant Kleefstra syndrome 1 [RCV003875701] Chr9:137762713 [GRCh38]
Chr9:140657165 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.2067C>T (p.Ala689=) single nucleotide variant Kleefstra syndrome 1 [RCV003503828] Chr9:137777930 [GRCh38]
Chr9:140672382 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.3885C>T (p.Ala1295=) single nucleotide variant Kleefstra syndrome 1 [RCV003503831] Chr9:137834941 [GRCh38]
Chr9:140729393 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.1409A>G (p.Gln470Arg) single nucleotide variant Kleefstra syndrome 1 [RCV003503904] Chr9:137757919 [GRCh38]
Chr9:140652371 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.1144A>G (p.Met382Val) single nucleotide variant Kleefstra syndrome 1 [RCV003504316] Chr9:137744064 [GRCh38]
Chr9:140638516 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.922A>C (p.Lys308Gln) single nucleotide variant Kleefstra syndrome 1 [RCV003504424] Chr9:137743469 [GRCh38]
Chr9:140637921 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.3809_3835del (p.Leu1270_Ala1278del) deletion Kleefstra syndrome 1 [RCV003503996] Chr9:137834855..137834881 [GRCh38]
Chr9:140729307..140729333 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.21+18C>G single nucleotide variant Kleefstra syndrome 1 [RCV003503943] Chr9:137619067 [GRCh38]
Chr9:140513519 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.21+7A>C single nucleotide variant Kleefstra syndrome 1 [RCV003504498] Chr9:137619056 [GRCh38]
Chr9:140513508 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.344_345del (p.Val115fs) microsatellite Kleefstra syndrome 1 [RCV003504093] Chr9:137716882..137716883 [GRCh38]
Chr9:140611334..140611335 [GRCh37]
Chr9:9q34.3
pathogenic
NM_024757.5(EHMT1):c.3717-6C>A single nucleotide variant Kleefstra syndrome 1 [RCV003504272] Chr9:137834767 [GRCh38]
Chr9:140729219 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.2608-4del deletion Kleefstra syndrome 1 [RCV003504282] Chr9:137800875 [GRCh38]
Chr9:140695327 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.2652G>A (p.Lys884=) single nucleotide variant Kleefstra syndrome 1 [RCV003504266] Chr9:137800924 [GRCh38]
Chr9:140695376 [GRCh37]
Chr9:9q34.3
benign
NM_024757.5(EHMT1):c.3541-6C>T single nucleotide variant Kleefstra syndrome 1 [RCV003504200] Chr9:137834343 [GRCh38]
Chr9:140728795 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.3036-20A>C single nucleotide variant Kleefstra syndrome 1 [RCV003504405] Chr9:137813366 [GRCh38]
Chr9:140707818 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.2324C>G (p.Ser775Cys) single nucleotide variant Kleefstra syndrome 1 [RCV003504406] Chr9:137782339 [GRCh38]
Chr9:140676791 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.1151A>G (p.Glu384Gly) single nucleotide variant Kleefstra syndrome 1 [RCV003504283] Chr9:137744071 [GRCh38]
Chr9:140638523 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.3170C>T (p.Thr1057Ile) single nucleotide variant Kleefstra syndrome 1 [RCV003502950] Chr9:137813520 [GRCh38]
Chr9:140707972 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.3880_3881delinsTT (p.Ala1294Phe) indel Kleefstra syndrome 1 [RCV003502903] Chr9:137834936..137834937 [GRCh38]
Chr9:140729388..140729389 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.127G>C (p.Ala43Pro) single nucleotide variant Kleefstra syndrome 1 [RCV003502943] Chr9:137716667 [GRCh38]
Chr9:140611119 [GRCh37]
Chr9:9q34.3
benign
NM_024757.5(EHMT1):c.2867dup (p.Leu957fs) duplication Kleefstra syndrome 1 [RCV003503092] Chr9:137811614..137811615 [GRCh38]
Chr9:140706066..140706067 [GRCh37]
Chr9:9q34.3
pathogenic
NM_024757.5(EHMT1):c.1661C>G (p.Thr554Arg) single nucleotide variant Kleefstra syndrome 1 [RCV003502817] Chr9:137775122 [GRCh38]
Chr9:140669574 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.104A>T (p.Asp35Val) single nucleotide variant Kleefstra syndrome 1 [RCV003502998] Chr9:137716644 [GRCh38]
Chr9:140611096 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.1104C>G (p.Ala368=) single nucleotide variant Kleefstra syndrome 1 [RCV003872972] Chr9:137744024 [GRCh38]
Chr9:140638476 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.3275C>G (p.Pro1092Arg) single nucleotide variant Kleefstra syndrome 1 [RCV003503389] Chr9:137815963 [GRCh38]
Chr9:140710415 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.259A>G (p.Thr87Ala) single nucleotide variant Kleefstra syndrome 1 [RCV003503418] Chr9:137716799 [GRCh38]
Chr9:140611251 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.1415C>T (p.Ala472Val) single nucleotide variant Kleefstra syndrome 1 [RCV003503443] Chr9:137757925 [GRCh38]
Chr9:140652377 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.2923C>G (p.Pro975Ala) single nucleotide variant Kleefstra syndrome 1 [RCV003503486] Chr9:137813061 [GRCh38]
Chr9:140707513 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.3353G>A (p.Arg1118His) single nucleotide variant Kleefstra syndrome 1 [RCV003502902] Chr9:137816041 [GRCh38]
Chr9:140710493 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.123A>G (p.Lys41=) single nucleotide variant Kleefstra syndrome 1 [RCV003502954] Chr9:137716663 [GRCh38]
Chr9:140611115 [GRCh37]
Chr9:9q34.3
benign
NM_024757.5(EHMT1):c.474G>T (p.Gly158=) single nucleotide variant Kleefstra syndrome 1 [RCV003502873] Chr9:137717014 [GRCh38]
Chr9:140611466 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.856T>A (p.Ser286Thr) single nucleotide variant Kleefstra syndrome 1 [RCV003502931] Chr9:137743403 [GRCh38]
Chr9:140637855 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.2535G>T (p.Leu845=) single nucleotide variant Kleefstra syndrome 1 [RCV003503572] Chr9:137798842 [GRCh38]
Chr9:140693294 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.2792A>C (p.Asp931Ala) single nucleotide variant Kleefstra syndrome 1 [RCV003503606] Chr9:137811540 [GRCh38]
Chr9:140705992 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.219T>A (p.Thr73=) single nucleotide variant Kleefstra syndrome 1 [RCV003872904] Chr9:137716759 [GRCh38]
Chr9:140611211 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.5C>T (p.Ala2Val) single nucleotide variant Kleefstra syndrome 1 [RCV003503016] Chr9:137619033 [GRCh38]
Chr9:140513485 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.2867+13C>A single nucleotide variant Kleefstra syndrome 1 [RCV003503127] Chr9:137811628 [GRCh38]
Chr9:140706080 [GRCh37]
Chr9:9q34.3
likely benign
Single allele deletion not provided [RCV003448674] Chr9:140395736..141075109 [GRCh37]
Chr9:9q34.3
pathogenic
GRCh37/hg19 9q34.3(chr9:140706817-141020389)x4 copy number gain not provided [RCV003485356] Chr9:140706817..141020389 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.3890C>T (p.Pro1297Leu) single nucleotide variant Kleefstra syndrome 1 [RCV003502755] Chr9:137834946 [GRCh38]
Chr9:140729398 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.641T>G (p.Leu214Arg) single nucleotide variant Kleefstra syndrome 1 [RCV003502748] Chr9:137717181 [GRCh38]
Chr9:140611633 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.1783T>C (p.Cys595Arg) single nucleotide variant Kleefstra syndrome 1 [RCV003502784] Chr9:137775244 [GRCh38]
Chr9:140669696 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.586G>T (p.Ala196Ser) single nucleotide variant Kleefstra syndrome 1 [RCV003502747] Chr9:137717126 [GRCh38]
Chr9:140611578 [GRCh37]
Chr9:9q34.3
uncertain significance
GRCh37/hg19 9q34.2-34.3(chr9:136988996-141020389)x3 copy number gain not provided [RCV003484786] Chr9:136988996..141020389 [GRCh37]
Chr9:9q34.2-34.3
pathogenic
NM_024757.5(EHMT1):c.3797C>G (p.Ser1266Trp) single nucleotide variant not specified [RCV003479784] Chr9:137834853 [GRCh38]
Chr9:140729305 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.2281G>A (p.Gly761Arg) single nucleotide variant not provided [RCV003443480] Chr9:137782296 [GRCh38]
Chr9:140676748 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.2610_2613dup (p.Gly872Ter) duplication EHMT1-related condition [RCV003406090] Chr9:137800881..137800882 [GRCh38]
Chr9:140695333..140695334 [GRCh37]
Chr9:9q34.3
pathogenic
NM_024757.5(EHMT1):c.1486T>C (p.Ser496Pro) single nucleotide variant not provided [RCV003442393] Chr9:137757996 [GRCh38]
Chr9:140652448 [GRCh37]
Chr9:9q34.3
likely benign|uncertain significance
NM_024757.5(EHMT1):c.642+22C>T single nucleotide variant not provided [RCV003440841] Chr9:137717204 [GRCh38]
Chr9:140611656 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.1654C>A (p.Arg552=) single nucleotide variant not provided [RCV003440842] Chr9:137775115 [GRCh38]
Chr9:140669567 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.2505+1146T>G single nucleotide variant not provided [RCV003440845] Chr9:137792116 [GRCh38]
Chr9:140686568 [GRCh37]
Chr9:9q34.3
benign
NM_024757.5(EHMT1):c.2712+2265C>T single nucleotide variant not provided [RCV003440846] Chr9:137803249 [GRCh38]
Chr9:140697701 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.2104G>A (p.Ala702Thr) single nucleotide variant EHMT1-related condition [RCV003399483] Chr9:137777967 [GRCh38]
Chr9:140672419 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.1015G>C (p.Val339Leu) single nucleotide variant not specified [RCV003404743] Chr9:137743935 [GRCh38]
Chr9:140638387 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.1361G>T (p.Gly454Val) single nucleotide variant not provided [RCV003443234] Chr9:137754283 [GRCh38]
Chr9:140648735 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.22-43600_22-43598del microsatellite not provided [RCV003440837] Chr9:137667364..137667366 [GRCh38]
Chr9:140561816..140561818 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.1792-27_1792-26del deletion not provided [RCV003440843] Chr9:137776588..137776589 [GRCh38]
Chr9:140671040..140671041 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.1071G>T (p.Glu357Asp) single nucleotide variant not provided [RCV003443818] Chr9:137743991 [GRCh38]
Chr9:140638443 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.3590G>A (p.Arg1197Gln) single nucleotide variant EHMT1-related condition [RCV003412313] Chr9:137834398 [GRCh38]
Chr9:140728850 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.3331T>A (p.Cys1111Ser) single nucleotide variant Kleefstra syndrome 1 [RCV003444040] Chr9:137816019 [GRCh38]
Chr9:140710471 [GRCh37]
Chr9:9q34.3
pathogenic
NM_024757.5(EHMT1):c.3488C>G (p.Ser1163Ter) single nucleotide variant EHMT1-related condition [RCV003391375] Chr9:137818086 [GRCh38]
Chr9:140712538 [GRCh37]
Chr9:9q34.3
likely pathogenic
NM_024757.5(EHMT1):c.808A>T (p.Thr270Ser) single nucleotide variant EHMT1-related condition [RCV003408597] Chr9:137728514 [GRCh38]
Chr9:140622966 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.3757C>T (p.Leu1253Phe) single nucleotide variant EHMT1-related condition [RCV003412468] Chr9:137834813 [GRCh38]
Chr9:140729265 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.2875C>T (p.Leu959Phe) single nucleotide variant not provided [RCV003443265] Chr9:137813013 [GRCh38]
Chr9:140707465 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.2513A>G (p.Glu838Gly) single nucleotide variant EHMT1-related condition [RCV003402829] Chr9:137798820 [GRCh38]
Chr9:140693272 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.233G>C (p.Arg78Thr) single nucleotide variant not provided [RCV003440838] Chr9:137716773 [GRCh38]
Chr9:140611225 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.275C>A (p.Ala92Glu) single nucleotide variant not provided [RCV003440839] Chr9:137716815 [GRCh38]
Chr9:140611267 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.512C>A (p.Thr171Lys) single nucleotide variant not provided [RCV003440840] Chr9:137717052 [GRCh38]
Chr9:140611504 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.2383-2064C>T single nucleotide variant not provided [RCV003440844] Chr9:137788784 [GRCh38]
Chr9:140683236 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.3808del (p.Leu1270fs) deletion not provided [RCV003440847] Chr9:137834862 [GRCh38]
Chr9:140729314 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.2076G>C (p.Val692=) single nucleotide variant Kleefstra syndrome 1 [RCV003879993] Chr9:137777939 [GRCh38]
Chr9:140672391 [GRCh37]
Chr9:9q34.3
likely benign
NM_024757.5(EHMT1):c.2866G>A (p.Val956Ile) single nucleotide variant Kleefstra syndrome 1 [RCV003876378] Chr9:137811614 [GRCh38]
Chr9:140706066 [GRCh37]
Chr9:9q34.3
uncertain significance
NM_024757.5(EHMT1):c.1792-9C>T single nucleotide variant Kleefstra syndrome 1 [RCV003877639] Chr9:137776609 [GRCh38]
Chr9:140671061 [GRCh37]
Chr9:9q34.3
likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:7326
Count of miRNA genes:1445
Interacting mature miRNAs:1974
Transcripts:ENST00000334856, ENST00000371394, ENST00000460486, ENST00000460843, ENST00000462484, ENST00000462942, ENST00000465566, ENST00000472849, ENST00000475564, ENST00000475704, ENST00000478940, ENST00000482340, ENST00000483653, ENST00000486164, ENST00000488242, ENST00000492232, ENST00000493484, ENST00000494249, ENST00000495657
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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

Markers in Region
D9S1838  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379140,636,716 - 140,636,880UniSTSGRCh37
Build 369139,756,537 - 139,756,701RGDNCBI36
Celera9111,163,746 - 111,163,904RGD
Cytogenetic Map10p11.23-q21.1UniSTS
Cytogenetic Map9q34.3UniSTS
HuRef9110,101,967 - 110,102,125UniSTS
Marshfield Genetic Map9163.84RGD
Marshfield Genetic Map9163.84UniSTS
Genethon Genetic Map9166.5UniSTS
GeneMap99-GB4 RH Map9419.56UniSTS
RH11945  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379140,729,926 - 140,730,094UniSTSGRCh37
Build 369139,849,747 - 139,849,915RGDNCBI36
Celera9111,256,225 - 111,256,393RGD
Cytogenetic Map9q34.3UniSTS
HuRef9110,193,102 - 110,193,270UniSTS
GeneMap99-GB4 RH Map9419.53UniSTS
SHGC-82935  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379140,659,650 - 140,659,929UniSTSGRCh37
Build 369139,779,471 - 139,779,750RGDNCBI36
Celera9111,186,675 - 111,186,954RGD
Cytogenetic Map9q34.3UniSTS
HuRef9110,124,898 - 110,125,177UniSTS
TNG Radiation Hybrid Map954045.0UniSTS
SHGC-111534  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379140,687,321 - 140,687,607UniSTSGRCh37
Build 369139,807,142 - 139,807,428RGDNCBI36
Celera9111,213,495 - 111,213,781RGD
Cytogenetic Map9q34.3UniSTS
HuRef9110,151,328 - 110,151,614UniSTS
TNG Radiation Hybrid Map954035.0UniSTS
SHGC-149365  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379140,694,245 - 140,694,582UniSTSGRCh37
Build 369139,814,066 - 139,814,403RGDNCBI36
Celera9111,220,482 - 111,220,819RGD
Cytogenetic Map9q34.3UniSTS
HuRef9110,158,196 - 110,158,533UniSTS
TNG Radiation Hybrid Map954067.0UniSTS
RH48863  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379140,723,002 - 140,723,133UniSTSGRCh37
Build 369139,842,823 - 139,842,954RGDNCBI36
Celera9111,249,301 - 111,249,432RGD
Cytogenetic Map9q34.3UniSTS
HuRef9110,186,177 - 110,186,308UniSTS
GeneMap99-GB4 RH Map9419.53UniSTS
D10S2448  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map11p14.1UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map13q12.3UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map3q26.2UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map1p22.1UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map1p36.1UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map6p23UniSTS
Cytogenetic Map5p13.2UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map13q32.1UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map4p15.31UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map1p31UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic MapXq13-q21UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map6p12.1UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map1q44UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map4q31.21UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map19qUniSTS
Cytogenetic Map2q32.3UniSTS


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 442 68 592 41 921 44 872 182 580 98 1052 891 11 77 474 3
Low 1997 2907 1134 583 1018 421 3485 2011 3154 321 408 722 164 1 1127 2314 3 2
Below cutoff 16 12 4

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_011776 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001145527 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001354259 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001354263 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001354611 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001354612 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_024757 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005266105 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005266110 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011519021 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011519022 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011519023 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011519025 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011519029 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011519030 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011519031 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017015134 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017015136 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017015137 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017015138 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024447674 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024447675 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024447676 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024447677 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024447678 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024447679 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024447680 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423872 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423873 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423874 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423875 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423876 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423877 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423878 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423879 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423880 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423881 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423882 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423883 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423884 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423885 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423886 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423887 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423888 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423889 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423890 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363813 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363814 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363815 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363816 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363817 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363818 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363819 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363820 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363821 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363822 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363823 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363824 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363825 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363826 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363827 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363828 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363829 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363830 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363831 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363832 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363833 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363834 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363835 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363836 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363837 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363838 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363839 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363840 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363841 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363842 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363843 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363844 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363845 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363846 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363847 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363848 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363849 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363850 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363851 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363852 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363853 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363854 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363855 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363856 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB028932 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB058779 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF461894 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK022941 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK097611 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK127990 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK309602 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL365502 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL590627 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL611925 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL713772 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL832865 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY083210 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC011608 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC025772 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC047504 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC132855 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC132857 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM681619 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ028833 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX106199 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX647898 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CA426038 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471090 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068269 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT583853 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

RefSeq Acc Id: ENST00000371394   ⟹   ENSP00000485945
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9137,618,993 - 137,792,256 (+)Ensembl
RefSeq Acc Id: ENST00000460486   ⟹   ENSP00000486969
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9137,667,350 - 137,728,400 (+)Ensembl
RefSeq Acc Id: ENST00000460843   ⟹   ENSP00000417980
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9137,619,005 - 137,836,127 (+)Ensembl
RefSeq Acc Id: ENST00000462484   ⟹   ENSP00000417328
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9137,618,992 - 137,784,393 (+)Ensembl
RefSeq Acc Id: ENST00000462942   ⟹   ENSP00000436107
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9137,744,064 - 137,870,016 (+)Ensembl
RefSeq Acc Id: ENST00000465566   ⟹   ENSP00000486261
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9137,754,231 - 137,776,781 (+)Ensembl
RefSeq Acc Id: ENST00000472849
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9137,832,632 - 137,834,992 (+)Ensembl
RefSeq Acc Id: ENST00000475564
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9137,816,341 - 137,836,114 (+)Ensembl
RefSeq Acc Id: ENST00000475704
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9137,834,079 - 137,835,082 (+)Ensembl
RefSeq Acc Id: ENST00000478940   ⟹   ENSP00000490732
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9137,742,966 - 137,745,602 (+)Ensembl
RefSeq Acc Id: ENST00000482340   ⟹   ENSP00000486748
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9137,788,811 - 137,803,199 (+)Ensembl
RefSeq Acc Id: ENST00000483653
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9137,813,491 - 137,814,827 (+)Ensembl
RefSeq Acc Id: ENST00000486164   ⟹   ENSP00000486127
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9137,790,888 - 137,813,444 (+)Ensembl
RefSeq Acc Id: ENST00000488242
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9137,800,443 - 137,815,951 (+)Ensembl
RefSeq Acc Id: ENST00000492232   ⟹   ENSP00000486580
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9137,667,007 - 137,717,050 (+)Ensembl
RefSeq Acc Id: ENST00000493484   ⟹   ENSP00000486503
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9137,788,764 - 137,803,195 (+)Ensembl
RefSeq Acc Id: ENST00000494249
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9137,815,336 - 137,835,741 (+)Ensembl
RefSeq Acc Id: ENST00000495657
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9137,738,607 - 137,754,221 (+)Ensembl
RefSeq Acc Id: ENST00000626066   ⟹   ENSP00000485900
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9137,711,022 - 137,757,904 (+)Ensembl
RefSeq Acc Id: ENST00000626216   ⟹   ENSP00000485878
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9137,619,007 - 137,716,953 (+)Ensembl
RefSeq Acc Id: ENST00000629335   ⟹   ENSP00000490056
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9137,619,013 - 137,764,757 (+)Ensembl
RefSeq Acc Id: ENST00000629417   ⟹   ENSP00000486857
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9137,676,103 - 137,717,037 (+)Ensembl
RefSeq Acc Id: ENST00000629808   ⟹   ENSP00000485947
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9137,743,377 - 137,762,769 (+)Ensembl
RefSeq Acc Id: ENST00000630754   ⟹   ENSP00000485933
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9137,619,003 - 137,717,045 (+)Ensembl
RefSeq Acc Id: ENST00000635741
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9137,816,000 - 137,816,497 (+)Ensembl
RefSeq Acc Id: ENST00000635783
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9137,798,850 - 137,800,413 (+)Ensembl
RefSeq Acc Id: ENST00000635987
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9137,815,578 - 137,815,981 (+)Ensembl
RefSeq Acc Id: ENST00000636027   ⟹   ENSP00000489961
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9137,665,956 - 137,813,409 (+)Ensembl
RefSeq Acc Id: ENST00000636081
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9137,674,897 - 137,710,993 (+)Ensembl
RefSeq Acc Id: ENST00000636186
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9137,685,288 - 137,711,018 (+)Ensembl
RefSeq Acc Id: ENST00000636376
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9137,646,377 - 137,711,004 (+)Ensembl
RefSeq Acc Id: ENST00000636463
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9137,814,566 - 137,815,983 (+)Ensembl
RefSeq Acc Id: ENST00000636472
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9137,817,934 - 137,818,136 (+)Ensembl
RefSeq Acc Id: ENST00000636526
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9137,818,113 - 137,820,114 (+)Ensembl
RefSeq Acc Id: ENST00000636565
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9137,790,884 - 137,795,092 (+)Ensembl
RefSeq Acc Id: ENST00000637161   ⟹   ENSP00000490328
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9137,675,186 - 137,836,100 (+)Ensembl
RefSeq Acc Id: ENST00000637261   ⟹   ENSP00000490815
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9137,710,970 - 137,834,442 (+)Ensembl
RefSeq Acc Id: ENST00000637277
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9137,795,118 - 137,798,841 (+)Ensembl
RefSeq Acc Id: ENST00000637287
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9137,832,853 - 137,834,357 (+)Ensembl
RefSeq Acc Id: ENST00000637318   ⟹   ENSP00000490611
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9137,742,957 - 137,747,964 (+)Ensembl
RefSeq Acc Id: ENST00000637335
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9137,620,047 - 137,711,030 (+)Ensembl
RefSeq Acc Id: ENST00000637407
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9137,814,460 - 137,815,373 (+)Ensembl
RefSeq Acc Id: ENST00000637593
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9137,619,010 - 137,646,395 (+)Ensembl
RefSeq Acc Id: ENST00000637655
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9137,664,906 - 137,711,006 (+)Ensembl
RefSeq Acc Id: ENST00000637662
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9137,680,898 - 137,711,030 (+)Ensembl
RefSeq Acc Id: ENST00000637748
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9137,815,752 - 137,836,081 (+)Ensembl
RefSeq Acc Id: ENST00000637784
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9137,816,357 - 137,817,511 (+)Ensembl
RefSeq Acc Id: ENST00000637891   ⟹   ENSP00000490907
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9137,777,970 - 137,834,912 (+)Ensembl
RefSeq Acc Id: ENST00000637949   ⟹   ENSP00000489786
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9137,782,338 - 137,811,491 (+)Ensembl
RefSeq Acc Id: ENST00000637977   ⟹   ENSP00000490714
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9137,711,001 - 137,764,701 (+)Ensembl
RefSeq Acc Id: ENST00000638071   ⟹   ENSP00000490417
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9137,716,927 - 137,777,946 (+)Ensembl
RefSeq Acc Id: ENST00000640639   ⟹   ENSP00000491823
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9137,743,174 - 137,776,840 (+)Ensembl
RefSeq Acc Id: NM_001145527   ⟹   NP_001138999
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389137,619,005 - 137,784,393 (+)NCBI
GRCh379140,513,444 - 140,730,579 (+)NCBI
HuRef9109,975,406 - 110,193,755 (+)NCBI
CHM1_19140,662,174 - 140,827,893 (+)NCBI
T2T-CHM13v2.09149,870,687 - 150,042,768 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001354259   ⟹   NP_001341188
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389137,619,005 - 137,794,174 (+)NCBI
T2T-CHM13v2.09149,870,687 - 150,052,549 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001354263   ⟹   NP_001341192
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389137,619,005 - 137,836,127 (+)NCBI
T2T-CHM13v2.09149,870,687 - 150,093,989 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001354611   ⟹   NP_001341540
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389137,619,005 - 137,764,776 (+)NCBI
T2T-CHM13v2.09149,870,687 - 150,022,341 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001354612   ⟹   NP_001341541
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389137,619,005 - 137,764,776 (+)NCBI
T2T-CHM13v2.09149,870,687 - 150,022,341 (+)NCBI
Sequence:
RefSeq Acc Id: NM_024757   ⟹   NP_079033
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389137,619,005 - 137,836,127 (+)NCBI
GRCh379140,513,444 - 140,730,579 (+)ENTREZGENE
GRCh379140,513,444 - 140,730,579 (+)NCBI
Build 369139,725,238 - 139,850,400 (+)NCBI Archive
HuRef9109,975,406 - 110,193,755 (+)NCBI
CHM1_19140,662,174 - 140,878,710 (+)NCBI
T2T-CHM13v2.09149,870,687 - 150,093,989 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005266110   ⟹   XP_005266167
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389137,619,005 - 137,836,127 (+)NCBI
GRCh379140,513,444 - 140,730,579 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011519021   ⟹   XP_011517323
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389137,665,922 - 137,836,127 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011519022   ⟹   XP_011517324
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389137,628,509 - 137,836,127 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011519023   ⟹   XP_011517325
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389137,665,922 - 137,836,127 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011519029   ⟹   XP_011517331
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389137,759,342 - 137,836,127 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011519030   ⟹   XP_011517332
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389137,787,200 - 137,836,127 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011519031   ⟹   XP_011517333
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389137,788,764 - 137,836,127 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017015134   ⟹   XP_016870623
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389137,628,509 - 137,836,127 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017015138   ⟹   XP_016870627
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389137,619,005 - 137,836,127 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024447677   ⟹   XP_024303445
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389137,728,535 - 137,836,127 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024447678   ⟹   XP_024303446
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389137,619,005 - 137,803,195 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047423872   ⟹   XP_047279828
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389137,619,005 - 137,836,127 (+)NCBI
RefSeq Acc Id: XM_047423873   ⟹   XP_047279829
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389137,635,893 - 137,836,127 (+)NCBI
RefSeq Acc Id: XM_047423874   ⟹   XP_047279830
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389137,665,922 - 137,836,127 (+)NCBI
RefSeq Acc Id: XM_047423875   ⟹   XP_047279831
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389137,619,005 - 137,836,127 (+)NCBI
RefSeq Acc Id: XM_047423876   ⟹   XP_047279832
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389137,665,922 - 137,836,127 (+)NCBI
RefSeq Acc Id: XM_047423877   ⟹   XP_047279833
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389137,665,922 - 137,836,127 (+)NCBI
RefSeq Acc Id: XM_047423878   ⟹   XP_047279834
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389137,619,005 - 137,836,127 (+)NCBI
RefSeq Acc Id: XM_047423879   ⟹   XP_047279835
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389137,664,918 - 137,836,127 (+)NCBI
RefSeq Acc Id: XM_047423880   ⟹   XP_047279836
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389137,665,922 - 137,836,127 (+)NCBI
RefSeq Acc Id: XM_047423881   ⟹   XP_047279837
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389137,619,005 - 137,836,127 (+)NCBI
RefSeq Acc Id: XM_047423882   ⟹   XP_047279838
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389137,619,005 - 137,836,127 (+)NCBI
RefSeq Acc Id: XM_047423883   ⟹   XP_047279839
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389137,619,005 - 137,836,127 (+)NCBI
RefSeq Acc Id: XM_047423884   ⟹   XP_047279840
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389137,619,005 - 137,836,127 (+)NCBI
RefSeq Acc Id: XM_047423885   ⟹   XP_047279841
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389137,619,005 - 137,836,127 (+)NCBI
RefSeq Acc Id: XM_047423886   ⟹   XP_047279842
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389137,619,005 - 137,803,195 (+)NCBI
RefSeq Acc Id: XM_047423887   ⟹   XP_047279843
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389137,619,005 - 137,803,195 (+)NCBI
RefSeq Acc Id: XM_047423888   ⟹   XP_047279844
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389137,619,005 - 137,803,195 (+)NCBI
RefSeq Acc Id: XM_047423889   ⟹   XP_047279845
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389137,619,005 - 137,803,195 (+)NCBI
RefSeq Acc Id: XM_047423890   ⟹   XP_047279846
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389137,788,764 - 137,836,127 (+)NCBI
RefSeq Acc Id: XM_054363813   ⟹   XP_054219788
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09149,916,671 - 150,093,989 (+)NCBI
RefSeq Acc Id: XM_054363814   ⟹   XP_054219789
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09149,880,191 - 150,093,989 (+)NCBI
RefSeq Acc Id: XM_054363815   ⟹   XP_054219790
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09149,870,687 - 150,093,989 (+)NCBI
RefSeq Acc Id: XM_054363816   ⟹   XP_054219791
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09149,916,671 - 150,093,989 (+)NCBI
RefSeq Acc Id: XM_054363817   ⟹   XP_054219792
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09149,880,191 - 150,093,989 (+)NCBI
RefSeq Acc Id: XM_054363818   ⟹   XP_054219793
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09149,887,575 - 150,093,989 (+)NCBI
RefSeq Acc Id: XM_054363819   ⟹   XP_054219794
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09149,870,687 - 150,093,989 (+)NCBI
RefSeq Acc Id: XM_054363820   ⟹   XP_054219795
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09149,870,687 - 150,093,989 (+)NCBI
RefSeq Acc Id: XM_054363821   ⟹   XP_054219796
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09149,916,670 - 150,093,989 (+)NCBI
RefSeq Acc Id: XM_054363822   ⟹   XP_054219797
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09149,880,191 - 150,093,989 (+)NCBI
RefSeq Acc Id: XM_054363823   ⟹   XP_054219798
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09149,870,687 - 150,093,989 (+)NCBI
RefSeq Acc Id: XM_054363824   ⟹   XP_054219799
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09149,916,671 - 150,093,989 (+)NCBI
RefSeq Acc Id: XM_054363825   ⟹   XP_054219800
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09149,870,687 - 150,093,989 (+)NCBI
RefSeq Acc Id: XM_054363826   ⟹   XP_054219801
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09149,880,191 - 150,093,989 (+)NCBI
RefSeq Acc Id: XM_054363827   ⟹   XP_054219802
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09149,916,671 - 150,093,989 (+)NCBI
RefSeq Acc Id: XM_054363828   ⟹   XP_054219803
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09149,870,687 - 150,093,989 (+)NCBI
RefSeq Acc Id: XM_054363829   ⟹   XP_054219804
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09149,870,687 - 150,093,989 (+)NCBI
RefSeq Acc Id: XM_054363830   ⟹   XP_054219805
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09149,915,631 - 150,093,989 (+)NCBI
RefSeq Acc Id: XM_054363831   ⟹   XP_054219806
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09149,870,687 - 150,093,989 (+)NCBI
RefSeq Acc Id: XM_054363832   ⟹   XP_054219807
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09149,870,687 - 150,093,989 (+)NCBI
RefSeq Acc Id: XM_054363833   ⟹   XP_054219808
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09149,916,670 - 150,093,989 (+)NCBI
RefSeq Acc Id: XM_054363834   ⟹   XP_054219809
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09149,870,687 - 150,093,989 (+)NCBI
RefSeq Acc Id: XM_054363835   ⟹   XP_054219810
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09149,870,687 - 150,093,989 (+)NCBI
RefSeq Acc Id: XM_054363836   ⟹   XP_054219811
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09149,870,687 - 150,093,989 (+)NCBI
RefSeq Acc Id: XM_054363837   ⟹   XP_054219812
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09149,870,687 - 150,093,989 (+)NCBI
RefSeq Acc Id: XM_054363838   ⟹   XP_054219813
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09149,870,687 - 150,093,989 (+)NCBI
RefSeq Acc Id: XM_054363839   ⟹   XP_054219814
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09149,870,687 - 150,093,989 (+)NCBI
RefSeq Acc Id: XM_054363840   ⟹   XP_054219815
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09149,870,687 - 150,093,989 (+)NCBI
RefSeq Acc Id: XM_054363841   ⟹   XP_054219816
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09149,986,102 - 150,093,989 (+)NCBI
RefSeq Acc Id: XM_054363842   ⟹   XP_054219817
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09149,870,687 - 150,069,880 (+)NCBI
RefSeq Acc Id: XM_054363843   ⟹   XP_054219818
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09149,870,687 - 150,069,880 (+)NCBI
RefSeq Acc Id: XM_054363844   ⟹   XP_054219819
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09149,870,687 - 150,069,880 (+)NCBI
RefSeq Acc Id: XM_054363845   ⟹   XP_054219820
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09149,870,687 - 150,069,880 (+)NCBI
RefSeq Acc Id: XM_054363846   ⟹   XP_054219821
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09149,870,687 - 150,042,768 (+)NCBI
RefSeq Acc Id: XM_054363847   ⟹   XP_054219822
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09149,870,687 - 150,069,880 (+)NCBI
RefSeq Acc Id: XM_054363848   ⟹   XP_054219823
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09149,870,687 - 150,069,881 (+)NCBI
RefSeq Acc Id: XM_054363849   ⟹   XP_054219824
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09149,870,687 - 150,069,880 (+)NCBI
RefSeq Acc Id: XM_054363850   ⟹   XP_054219825
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09149,870,687 - 150,069,881 (+)NCBI
RefSeq Acc Id: XM_054363851   ⟹   XP_054219826
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09149,870,687 - 150,069,882 (+)NCBI
RefSeq Acc Id: XM_054363852   ⟹   XP_054219827
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09149,870,687 - 150,069,881 (+)NCBI
RefSeq Acc Id: XM_054363853   ⟹   XP_054219828
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09149,870,687 - 150,042,768 (+)NCBI
RefSeq Acc Id: XM_054363854   ⟹   XP_054219829
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09150,016,907 - 150,093,989 (+)NCBI
RefSeq Acc Id: XM_054363855   ⟹   XP_054219830
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09150,046,553 - 150,093,989 (+)NCBI
RefSeq Acc Id: XM_054363856   ⟹   XP_054219831
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09150,047,131 - 150,093,989 (+)NCBI
Protein Sequences
Protein RefSeqs NP_001138999 (Get FASTA)   NCBI Sequence Viewer  
  NP_001341188 (Get FASTA)   NCBI Sequence Viewer  
  NP_001341192 (Get FASTA)   NCBI Sequence Viewer  
  NP_001341540 (Get FASTA)   NCBI Sequence Viewer  
  NP_001341541 (Get FASTA)   NCBI Sequence Viewer  
  NP_079033 (Get FASTA)   NCBI Sequence Viewer  
  XP_005266167 (Get FASTA)   NCBI Sequence Viewer  
  XP_011517323 (Get FASTA)   NCBI Sequence Viewer  
  XP_011517324 (Get FASTA)   NCBI Sequence Viewer  
  XP_011517325 (Get FASTA)   NCBI Sequence Viewer  
  XP_011517331 (Get FASTA)   NCBI Sequence Viewer  
  XP_011517332 (Get FASTA)   NCBI Sequence Viewer  
  XP_011517333 (Get FASTA)   NCBI Sequence Viewer  
  XP_016870623 (Get FASTA)   NCBI Sequence Viewer  
  XP_016870627 (Get FASTA)   NCBI Sequence Viewer  
  XP_024303445 (Get FASTA)   NCBI Sequence Viewer  
  XP_024303446 (Get FASTA)   NCBI Sequence Viewer  
  XP_047279828 (Get FASTA)   NCBI Sequence Viewer  
  XP_047279829 (Get FASTA)   NCBI Sequence Viewer  
  XP_047279830 (Get FASTA)   NCBI Sequence Viewer  
  XP_047279831 (Get FASTA)   NCBI Sequence Viewer  
  XP_047279832 (Get FASTA)   NCBI Sequence Viewer  
  XP_047279833 (Get FASTA)   NCBI Sequence Viewer  
  XP_047279834 (Get FASTA)   NCBI Sequence Viewer  
  XP_047279835 (Get FASTA)   NCBI Sequence Viewer  
  XP_047279836 (Get FASTA)   NCBI Sequence Viewer  
  XP_047279837 (Get FASTA)   NCBI Sequence Viewer  
  XP_047279838 (Get FASTA)   NCBI Sequence Viewer  
  XP_047279839 (Get FASTA)   NCBI Sequence Viewer  
  XP_047279840 (Get FASTA)   NCBI Sequence Viewer  
  XP_047279841 (Get FASTA)   NCBI Sequence Viewer  
  XP_047279842 (Get FASTA)   NCBI Sequence Viewer  
  XP_047279843 (Get FASTA)   NCBI Sequence Viewer  
  XP_047279844 (Get FASTA)   NCBI Sequence Viewer  
  XP_047279845 (Get FASTA)   NCBI Sequence Viewer  
  XP_047279846 (Get FASTA)   NCBI Sequence Viewer  
  XP_054219788 (Get FASTA)   NCBI Sequence Viewer  
  XP_054219789 (Get FASTA)   NCBI Sequence Viewer  
  XP_054219790 (Get FASTA)   NCBI Sequence Viewer  
  XP_054219791 (Get FASTA)   NCBI Sequence Viewer  
  XP_054219792 (Get FASTA)   NCBI Sequence Viewer  
  XP_054219793 (Get FASTA)   NCBI Sequence Viewer  
  XP_054219794 (Get FASTA)   NCBI Sequence Viewer  
  XP_054219795 (Get FASTA)   NCBI Sequence Viewer  
  XP_054219796 (Get FASTA)   NCBI Sequence Viewer  
  XP_054219797 (Get FASTA)   NCBI Sequence Viewer  
  XP_054219798 (Get FASTA)   NCBI Sequence Viewer  
  XP_054219799 (Get FASTA)   NCBI Sequence Viewer  
  XP_054219800 (Get FASTA)   NCBI Sequence Viewer  
  XP_054219801 (Get FASTA)   NCBI Sequence Viewer  
  XP_054219802 (Get FASTA)   NCBI Sequence Viewer  
  XP_054219803 (Get FASTA)   NCBI Sequence Viewer  
  XP_054219804 (Get FASTA)   NCBI Sequence Viewer  
  XP_054219805 (Get FASTA)   NCBI Sequence Viewer  
  XP_054219806 (Get FASTA)   NCBI Sequence Viewer  
  XP_054219807 (Get FASTA)   NCBI Sequence Viewer  
  XP_054219808 (Get FASTA)   NCBI Sequence Viewer  
  XP_054219809 (Get FASTA)   NCBI Sequence Viewer  
  XP_054219810 (Get FASTA)   NCBI Sequence Viewer  
  XP_054219811 (Get FASTA)   NCBI Sequence Viewer  
  XP_054219812 (Get FASTA)   NCBI Sequence Viewer  
  XP_054219813 (Get FASTA)   NCBI Sequence Viewer  
  XP_054219814 (Get FASTA)   NCBI Sequence Viewer  
  XP_054219815 (Get FASTA)   NCBI Sequence Viewer  
  XP_054219816 (Get FASTA)   NCBI Sequence Viewer  
  XP_054219817 (Get FASTA)   NCBI Sequence Viewer  
  XP_054219818 (Get FASTA)   NCBI Sequence Viewer  
  XP_054219819 (Get FASTA)   NCBI Sequence Viewer  
  XP_054219820 (Get FASTA)   NCBI Sequence Viewer  
  XP_054219821 (Get FASTA)   NCBI Sequence Viewer  
  XP_054219822 (Get FASTA)   NCBI Sequence Viewer  
  XP_054219823 (Get FASTA)   NCBI Sequence Viewer  
  XP_054219824 (Get FASTA)   NCBI Sequence Viewer  
  XP_054219825 (Get FASTA)   NCBI Sequence Viewer  
  XP_054219826 (Get FASTA)   NCBI Sequence Viewer  
  XP_054219827 (Get FASTA)   NCBI Sequence Viewer  
  XP_054219828 (Get FASTA)   NCBI Sequence Viewer  
  XP_054219829 (Get FASTA)   NCBI Sequence Viewer  
  XP_054219830 (Get FASTA)   NCBI Sequence Viewer  
  XP_054219831 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH11608 (Get FASTA)   NCBI Sequence Viewer  
  AAH25772 (Get FASTA)   NCBI Sequence Viewer  
  AAH47504 (Get FASTA)   NCBI Sequence Viewer  
  AAM09024 (Get FASTA)   NCBI Sequence Viewer  
  AAQ04808 (Get FASTA)   NCBI Sequence Viewer  
  BAB14321 (Get FASTA)   NCBI Sequence Viewer  
  BAB47505 (Get FASTA)   NCBI Sequence Viewer  
  BAB56104 (Get FASTA)   NCBI Sequence Viewer  
  BAC05120 (Get FASTA)   NCBI Sequence Viewer  
  CAD28534 (Get FASTA)   NCBI Sequence Viewer  
  EAW88409 (Get FASTA)   NCBI Sequence Viewer  
  EAW88410 (Get FASTA)   NCBI Sequence Viewer  
  EAW88411 (Get FASTA)   NCBI Sequence Viewer  
  EAW88412 (Get FASTA)   NCBI Sequence Viewer  
  EAW88413 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000417328
  ENSP00000417328.1
  ENSP00000417980
  ENSP00000417980.1
  ENSP00000436107.1
  ENSP00000485878.1
  ENSP00000485900
  ENSP00000485900.1
  ENSP00000485933.1
  ENSP00000485945.1
  ENSP00000485947.1
  ENSP00000486127.1
  ENSP00000486261.1
  ENSP00000486503.1
  ENSP00000486580.1
  ENSP00000486748.1
  ENSP00000486857.1
  ENSP00000486969.1
  ENSP00000489786.1
  ENSP00000489961
  ENSP00000489961.1
  ENSP00000490056
  ENSP00000490056.1
  ENSP00000490328
  ENSP00000490328.1
  ENSP00000490417.1
  ENSP00000490611.1
  ENSP00000490714.1
  ENSP00000490732.1
  ENSP00000490815.1
  ENSP00000490907.1
  ENSP00000491823.1
GenBank Protein Q9H9B1 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_079033   ⟸   NM_024757
- Peptide Label: isoform 1
- UniProtKB: Q96JF1 (UniProtKB/Swiss-Prot),   Q96F53 (UniProtKB/Swiss-Prot),   Q8TCN7 (UniProtKB/Swiss-Prot),   Q86X08 (UniProtKB/Swiss-Prot),   B1AQ59 (UniProtKB/Swiss-Prot),   B1AQ58 (UniProtKB/Swiss-Prot),   Q96KH4 (UniProtKB/Swiss-Prot),   Q9H9B1 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001138999   ⟸   NM_001145527
- Peptide Label: isoform 2
- UniProtKB: Q9H9B1 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005266167   ⟸   XM_005266110
- Peptide Label: isoform X10
- UniProtKB: A0A1B0GV09 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011517324   ⟸   XM_011519022
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_011517323   ⟸   XM_011519021
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011517325   ⟸   XM_011519023
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_011517331   ⟸   XM_011519029
- Peptide Label: isoform X24
- UniProtKB: A0A0C4DGF8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011517332   ⟸   XM_011519030
- Peptide Label: isoform X25
- Sequence:
RefSeq Acc Id: XP_011517333   ⟸   XM_011519031
- Peptide Label: isoform X26
- Sequence:
RefSeq Acc Id: XP_016870627   ⟸   XM_017015138
- Peptide Label: isoform X11
- Sequence:
RefSeq Acc Id: XP_016870623   ⟸   XM_017015134
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: NP_001341192   ⟸   NM_001354263
- Peptide Label: isoform 4
- Sequence:
RefSeq Acc Id: NP_001341188   ⟸   NM_001354259
- Peptide Label: isoform 3
- Sequence:
RefSeq Acc Id: NP_001341540   ⟸   NM_001354611
- Peptide Label: isoform 5
- UniProtKB: A0A1B0GUD1 (UniProtKB/TrEMBL),   A0A1B0GVZ8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001341541   ⟸   NM_001354612
- Peptide Label: isoform 6
- UniProtKB: A0A1B0GVZ8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_024303446   ⟸   XM_024447678
- Peptide Label: isoform X19
- Sequence:
RefSeq Acc Id: XP_024303445   ⟸   XM_024447677
- Peptide Label: isoform X18
- Sequence:
RefSeq Acc Id: ENSP00000436107   ⟸   ENST00000462942
RefSeq Acc Id: ENSP00000485945   ⟸   ENST00000371394
RefSeq Acc Id: ENSP00000490732   ⟸   ENST00000478940
RefSeq Acc Id: ENSP00000489961   ⟸   ENST00000636027
RefSeq Acc Id: ENSP00000486261   ⟸   ENST00000465566
RefSeq Acc Id: ENSP00000490611   ⟸   ENST00000637318
RefSeq Acc Id: ENSP00000490815   ⟸   ENST00000637261
RefSeq Acc Id: ENSP00000490328   ⟸   ENST00000637161
RefSeq Acc Id: ENSP00000489786   ⟸   ENST00000637949
RefSeq Acc Id: ENSP00000490714   ⟸   ENST00000637977
RefSeq Acc Id: ENSP00000490907   ⟸   ENST00000637891
RefSeq Acc Id: ENSP00000486580   ⟸   ENST00000492232
RefSeq Acc Id: ENSP00000490417   ⟸   ENST00000638071
RefSeq Acc Id: ENSP00000486503   ⟸   ENST00000493484
RefSeq Acc Id: ENSP00000485878   ⟸   ENST00000626216
RefSeq Acc Id: ENSP00000485900   ⟸   ENST00000626066
RefSeq Acc Id: ENSP00000486748   ⟸   ENST00000482340
RefSeq Acc Id: ENSP00000486857   ⟸   ENST00000629417
RefSeq Acc Id: ENSP00000490056   ⟸   ENST00000629335
RefSeq Acc Id: ENSP00000485947   ⟸   ENST00000629808
RefSeq Acc Id: ENSP00000491823   ⟸   ENST00000640639
RefSeq Acc Id: ENSP00000486127   ⟸   ENST00000486164
RefSeq Acc Id: ENSP00000485933   ⟸   ENST00000630754
RefSeq Acc Id: ENSP00000417980   ⟸   ENST00000460843
RefSeq Acc Id: ENSP00000486969   ⟸   ENST00000460486
RefSeq Acc Id: ENSP00000417328   ⟸   ENST00000462484
RefSeq Acc Id: XP_047279828   ⟸   XM_047423872
- Peptide Label: isoform X3
RefSeq Acc Id: XP_047279831   ⟸   XM_047423875
- Peptide Label: isoform X8
RefSeq Acc Id: XP_047279834   ⟸   XM_047423878
- Peptide Label: isoform X10
- UniProtKB: A0A1B0GV09 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047279839   ⟸   XM_047423883
- Peptide Label: isoform X15
RefSeq Acc Id: XP_047279837   ⟸   XM_047423881
- Peptide Label: isoform X13
RefSeq Acc Id: XP_047279840   ⟸   XM_047423884
- Peptide Label: isoform X16
RefSeq Acc Id: XP_047279838   ⟸   XM_047423882
- Peptide Label: isoform X14
RefSeq Acc Id: XP_047279841   ⟸   XM_047423885
- Peptide Label: isoform X17
RefSeq Acc Id: XP_047279842   ⟸   XM_047423886
- Peptide Label: isoform X20
RefSeq Acc Id: XP_047279844   ⟸   XM_047423888
- Peptide Label: isoform X22
RefSeq Acc Id: XP_047279843   ⟸   XM_047423887
- Peptide Label: isoform X21
RefSeq Acc Id: XP_047279845   ⟸   XM_047423889
- Peptide Label: isoform X23
RefSeq Acc Id: XP_047279829   ⟸   XM_047423873
- Peptide Label: isoform X6
RefSeq Acc Id: XP_047279835   ⟸   XM_047423879
- Peptide Label: isoform X11
RefSeq Acc Id: XP_047279836   ⟸   XM_047423880
- Peptide Label: isoform X12
RefSeq Acc Id: XP_047279830   ⟸   XM_047423874
- Peptide Label: isoform X7
RefSeq Acc Id: XP_047279832   ⟸   XM_047423876
- Peptide Label: isoform X9
RefSeq Acc Id: XP_047279833   ⟸   XM_047423877
- Peptide Label: isoform X10
- UniProtKB: A0A1B0GV09 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047279846   ⟸   XM_047423890
- Peptide Label: isoform X26
RefSeq Acc Id: XP_054219790   ⟸   XM_054363815
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054219798   ⟸   XM_054363823
- Peptide Label: isoform X8
RefSeq Acc Id: XP_054219803   ⟸   XM_054363828
- Peptide Label: isoform X10
- UniProtKB: A0A1B0GV09 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054219804   ⟸   XM_054363829
- Peptide Label: isoform X31
RefSeq Acc Id: XP_054219794   ⟸   XM_054363819
- Peptide Label: isoform X27
RefSeq Acc Id: XP_054219810   ⟸   XM_054363835
- Peptide Label: isoform X33
RefSeq Acc Id: XP_054219807   ⟸   XM_054363832
- Peptide Label: isoform X32
RefSeq Acc Id: XP_054219795   ⟸   XM_054363820
- Peptide Label: isoform X28
RefSeq Acc Id: XP_054219812   ⟸   XM_054363837
- Peptide Label: isoform X34
RefSeq Acc Id: XP_054219800   ⟸   XM_054363825
- Peptide Label: isoform X10
- UniProtKB: A0A1B0GV09 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054219813   ⟸   XM_054363838
- Peptide Label: isoform X15
RefSeq Acc Id: XP_054219809   ⟸   XM_054363834
- Peptide Label: isoform X13
RefSeq Acc Id: XP_054219806   ⟸   XM_054363831
- Peptide Label: isoform X11
RefSeq Acc Id: XP_054219814   ⟸   XM_054363839
- Peptide Label: isoform X16
RefSeq Acc Id: XP_054219811   ⟸   XM_054363836
- Peptide Label: isoform X14
RefSeq Acc Id: XP_054219815   ⟸   XM_054363840
- Peptide Label: isoform X17
RefSeq Acc Id: XP_054219826   ⟸   XM_054363851
- Peptide Label: isoform X40
RefSeq Acc Id: XP_054219823   ⟸   XM_054363848
- Peptide Label: isoform X39
RefSeq Acc Id: XP_054219825   ⟸   XM_054363850
- Peptide Label: isoform X22
RefSeq Acc Id: XP_054219827   ⟸   XM_054363852
- Peptide Label: isoform X23
RefSeq Acc Id: XP_054219817   ⟸   XM_054363842
- Peptide Label: isoform X19
RefSeq Acc Id: XP_054219819   ⟸   XM_054363844
- Peptide Label: isoform X36
RefSeq Acc Id: XP_054219818   ⟸   XM_054363843
- Peptide Label: isoform X35
RefSeq Acc Id: XP_054219820   ⟸   XM_054363845
- Peptide Label: isoform X37
RefSeq Acc Id: XP_054219822   ⟸   XM_054363847
- Peptide Label: isoform X20
RefSeq Acc Id: XP_054219824   ⟸   XM_054363849
- Peptide Label: isoform X21
RefSeq Acc Id: XP_054219821   ⟸   XM_054363846
- Peptide Label: isoform X38
RefSeq Acc Id: XP_054219828   ⟸   XM_054363853
- Peptide Label: isoform X41
RefSeq Acc Id: XP_054219789   ⟸   XM_054363814
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054219797   ⟸   XM_054363822
- Peptide Label: isoform X29
RefSeq Acc Id: XP_054219792   ⟸   XM_054363817
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054219801   ⟸   XM_054363826
- Peptide Label: isoform X30
RefSeq Acc Id: XP_054219793   ⟸   XM_054363818
- Peptide Label: isoform X6
RefSeq Acc Id: XP_054219805   ⟸   XM_054363830
- Peptide Label: isoform X11
RefSeq Acc Id: XP_054219808   ⟸   XM_054363833
- Peptide Label: isoform X12
RefSeq Acc Id: XP_054219796   ⟸   XM_054363821
- Peptide Label: isoform X7
RefSeq Acc Id: XP_054219788   ⟸   XM_054363813
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054219791   ⟸   XM_054363816
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054219799   ⟸   XM_054363824
- Peptide Label: isoform X9
RefSeq Acc Id: XP_054219802   ⟸   XM_054363827
- Peptide Label: isoform X10
- UniProtKB: A0A1B0GV09 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054219816   ⟸   XM_054363841
- Peptide Label: isoform X18
RefSeq Acc Id: XP_054219829   ⟸   XM_054363854
- Peptide Label: isoform X24
- UniProtKB: A0A0C4DGF8 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054219830   ⟸   XM_054363855
- Peptide Label: isoform X25
RefSeq Acc Id: XP_054219831   ⟸   XM_054363856
- Peptide Label: isoform X26
Protein Domains
EHMT1/2 cysteine-rich region   Pre-SET   SET

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9H9B1-F1-model_v2 AlphaFold Q9H9B1 1-1298 view protein structure

Promoters
RGD ID:7216827
Promoter ID:EPDNEW_H14159
Type:initiation region
Name:EHMT1_2
Description:euchromatic histone lysine methyltransferase 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H14146  EPDNEW_H14151  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh389137,619,011 - 137,619,071EPDNEW
RGD ID:6807463
Promoter ID:HG_KWN:65773
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:UC010NCN.1
Position:
Human AssemblyChrPosition (strand)Source
Build 369139,752,646 - 139,753,146 (+)MPROMDB
RGD ID:6807462
Promoter ID:HG_KWN:65774
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:OTTHUMT00000055373
Position:
Human AssemblyChrPosition (strand)Source
Build 369139,757,914 - 139,758,414 (+)MPROMDB
RGD ID:6807729
Promoter ID:HG_KWN:65778
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:UC004COE.1
Position:
Human AssemblyChrPosition (strand)Source
Build 369139,828,626 - 139,830,307 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:24650 AgrOrtholog
COSMIC EHMT1 COSMIC
Ensembl Genes ENSG00000181090 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000371394.6 UniProtKB/Swiss-Prot
  ENST00000460486.3 UniProtKB/TrEMBL
  ENST00000460843 ENTREZGENE
  ENST00000460843.6 UniProtKB/Swiss-Prot
  ENST00000462484 ENTREZGENE
  ENST00000462484.5 UniProtKB/Swiss-Prot
  ENST00000462942.3 UniProtKB/TrEMBL
  ENST00000465566.2 UniProtKB/TrEMBL
  ENST00000478940.1 UniProtKB/TrEMBL
  ENST00000482340.5 UniProtKB/TrEMBL
  ENST00000486164.5 UniProtKB/TrEMBL
  ENST00000492232.5 UniProtKB/TrEMBL
  ENST00000493484.5 UniProtKB/TrEMBL
  ENST00000626066 ENTREZGENE
  ENST00000626066.2 UniProtKB/TrEMBL
  ENST00000626216.2 UniProtKB/TrEMBL
  ENST00000629335 ENTREZGENE
  ENST00000629335.2 UniProtKB/TrEMBL
  ENST00000629417.1 UniProtKB/TrEMBL
  ENST00000629808.2 UniProtKB/TrEMBL
  ENST00000630754.2 UniProtKB/TrEMBL
  ENST00000636027 ENTREZGENE
  ENST00000636027.1 UniProtKB/TrEMBL
  ENST00000637161 ENTREZGENE
  ENST00000637161.1 UniProtKB/TrEMBL
  ENST00000637261.1 UniProtKB/TrEMBL
  ENST00000637318.1 UniProtKB/TrEMBL
  ENST00000637891.1 UniProtKB/TrEMBL
  ENST00000637949.1 UniProtKB/TrEMBL
  ENST00000637977.1 UniProtKB/TrEMBL
  ENST00000638071.1 UniProtKB/TrEMBL
  ENST00000640639.1 UniProtKB/TrEMBL
Gene3D-CATH 1.25.40.20 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  2.170.270.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000181090 GTEx
HGNC ID HGNC:24650 ENTREZGENE
Human Proteome Map EHMT1 Human Proteome Map
InterPro Ankyrin_rpt UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ankyrin_rpt-contain_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EHMT1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EHMT1/EHMT2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EHMT_ZBD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Pre-SET_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SET_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SET_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:79813 UniProtKB/Swiss-Prot
NCBI Gene 79813 ENTREZGENE
OMIM 607001 OMIM
PANTHER PTHR46307 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR46307:SF2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Ank_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ank_4 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EHMT1-2_CRR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Pre-SET UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SET UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134941393 PharmGKB
PRINTS ANKYRIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE ANK_REP_REGION UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ANK_REPEAT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PRE_SET UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SET UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART ANK UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PreSET UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SET UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF48403 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF82199 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A0C4DGF8 ENTREZGENE, UniProtKB/TrEMBL
  A0A0D9SEP2_HUMAN UniProtKB/TrEMBL
  A0A0D9SEQ1_HUMAN UniProtKB/TrEMBL
  A0A0D9SER3_HUMAN UniProtKB/TrEMBL
  A0A0D9SER9_HUMAN UniProtKB/TrEMBL
  A0A0D9SEY2_HUMAN UniProtKB/TrEMBL
  A0A0D9SF38_HUMAN UniProtKB/TrEMBL
  A0A0D9SFD7_HUMAN UniProtKB/TrEMBL
  A0A0D9SFG7_HUMAN UniProtKB/TrEMBL
  A0A0D9SFM6_HUMAN UniProtKB/TrEMBL
  A0A0D9SFS4_HUMAN UniProtKB/TrEMBL
  A0A0D9SFX4_HUMAN UniProtKB/TrEMBL
  A0A1B0GTP4_HUMAN UniProtKB/TrEMBL
  A0A1B0GU48_HUMAN UniProtKB/TrEMBL
  A0A1B0GUD1 ENTREZGENE, UniProtKB/TrEMBL
  A0A1B0GV09 ENTREZGENE, UniProtKB/TrEMBL
  A0A1B0GV89_HUMAN UniProtKB/TrEMBL
  A0A1B0GVZ8 ENTREZGENE, UniProtKB/TrEMBL
  A0A1B0GW12_HUMAN UniProtKB/TrEMBL
  A0A1B0GW79_HUMAN UniProtKB/TrEMBL
  A0A1B0GWF6_HUMAN UniProtKB/TrEMBL
  A0A1W2PPZ7_HUMAN UniProtKB/TrEMBL
  A0PJE0_HUMAN UniProtKB/TrEMBL
  B1AQ58 ENTREZGENE
  B1AQ59 ENTREZGENE
  EHMT1_HUMAN UniProtKB/Swiss-Prot
  Q86X08 ENTREZGENE
  Q8TCN7 ENTREZGENE
  Q96F53 ENTREZGENE
  Q96JF1 ENTREZGENE
  Q96KH4 ENTREZGENE
  Q9H9B1 ENTREZGENE
UniProt Secondary B1AQ58 UniProtKB/Swiss-Prot
  B1AQ59 UniProtKB/Swiss-Prot
  Q86X08 UniProtKB/Swiss-Prot
  Q8TCN7 UniProtKB/Swiss-Prot
  Q96F53 UniProtKB/Swiss-Prot
  Q96JF1 UniProtKB/Swiss-Prot
  Q96KH4 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2017-11-21 EHMT1  euchromatic histone lysine methyltransferase 1  EHMT1-IT1  EHMT1 intronic transcript 1  Data merged from RGD:7246233 737654 PROVISIONAL
2016-05-10 EHMT1  euchromatic histone lysine methyltransferase 1    euchromatic histone-lysine N-methyltransferase 1  Symbol and/or name change 5135510 APPROVED