KMT2A (lysine methyltransferase 2A) - Rat Genome Database

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Gene: KMT2A (lysine methyltransferase 2A) Homo sapiens
Analyze
Symbol: KMT2A
Name: lysine methyltransferase 2A
RGD ID: 1347719
HGNC Page HGNC:7132
Description: Enables several functions, including lysine-acetylated histone binding activity; protein homodimerization activity; and protein methyltransferase activity. Involved in T-helper 2 cell differentiation; positive regulation of macromolecule biosynthetic process; and protein-containing complex assembly. Located in cytosol and nucleoplasm. Part of MLL1 complex. Implicated in acute myeloid leukemia; cervical cancer; myelofibrosis; and non-Hodgkin lymphoma. Biomarker of prostate cancer.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: Acute lymphocytic 1; ALL-1; ALL1; CDK6/MLL fusion protein; CXXC-type zinc finger protein 7; CXXC7; FLJ11783; GAS7; histone-lysine N-methyltransferase 2A; histone-lysine N-methyltransferase MLL; HRX; HTRX; HTRX1; hypothetical protein FLJ11783; lysine (K)-specific methyltransferase 2A; lysine N-methyltransferase 2A; mixed lineage leukemia 1; MLL; MLL-AF4 der(11) fusion protein; MLL-AF9; MLL/GAS7; MLL/GAS7 fusion protein; MLL/GMPS fusion protein; MLL1; MLL1A; myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); myeloid/lymphoid or mixed-lineage leukemia protein 1; TET1-MLL; trithorax-like protein; TRX1; WDSTS; zinc finger protein HRX
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
GRCh3811118,436,492 - 118,526,832 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl11118,436,456 - 118,526,832 (+)EnsemblGRCh38hg38GRCh38
GRCh3711118,307,207 - 118,397,547 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3611117,812,415 - 117,901,146 (+)NCBINCBI36Build 36hg18NCBI36
Build 3411117,812,414 - 117,901,146NCBI
Celera11115,467,997 - 115,556,730 (+)NCBICelera
Cytogenetic Map11q23.3NCBI
HuRef11114,244,065 - 114,334,229 (+)NCBIHuRef
CHM1_111118,193,852 - 118,284,190 (+)NCBICHM1_1
T2T-CHM13v2.011118,455,794 - 118,546,121 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(1->4)-beta-D-glucan  (ISO)
17beta-estradiol  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
2,4-dinitrotoluene  (ISO)
2,6-dinitrotoluene  (ISO)
2-hydroxypropanoic acid  (EXP)
4,4'-sulfonyldiphenol  (ISO)
4-octylphenol  (EXP)
6-propyl-2-thiouracil  (ISO)
aflatoxin B1  (EXP,ISO)
all-trans-retinoic acid  (EXP)
amitrole  (ISO)
amphetamine  (ISO)
arsenite(3-)  (EXP)
arsenous acid  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP)
benzo[e]pyrene  (EXP)
bisphenol A  (EXP,ISO)
bortezomib  (EXP)
butanal  (EXP)
cadmium atom  (EXP,ISO)
cadmium dichloride  (EXP,ISO)
caffeine  (EXP)
chlorpyrifos  (EXP)
cisplatin  (EXP)
cladribine  (EXP)
clozapine  (EXP,ISO)
cobalt atom  (EXP)
cobalt dichloride  (EXP)
copper(II) sulfate  (EXP)
coumarin  (EXP)
crotonaldehyde  (EXP)
Cuprizon  (ISO)
cytarabine  (EXP)
deoxynivalenol  (EXP)
diarsenic trioxide  (EXP)
diazinon  (EXP)
dibutyl phthalate  (ISO)
dicrotophos  (EXP)
diethylstilbestrol  (EXP)
dorsomorphin  (EXP)
doxorubicin  (EXP)
endosulfan  (ISO)
enzyme inhibitor  (EXP)
ethanol  (EXP,ISO)
etoposide  (EXP)
fenthion  (ISO)
formaldehyde  (EXP)
FR900359  (EXP)
geldanamycin  (EXP)
genistein  (EXP)
gentamycin  (ISO)
glyphosate  (ISO)
haloperidol  (ISO)
hydroquinone  (ISO)
kaempferol  (EXP)
malathion  (EXP)
methapyrilene  (EXP)
methidathion  (ISO)
methimazole  (ISO)
methylmercury chloride  (EXP)
morphine  (ISO)
N-acetyl-L-cysteine  (EXP)
nickel dichloride  (EXP,ISO)
Nonylphenol  (EXP)
ozone  (ISO)
p-chloromercuribenzoic acid  (EXP)
paracetamol  (EXP,ISO)
perfluorooctane-1-sulfonic acid  (ISO)
permethrin  (EXP)
phenylmercury acetate  (EXP)
pirinixic acid  (ISO)
potassium chloride  (ISO)
prednisolone  (EXP)
propiconazole  (ISO)
pyrvinium  (ISO)
quercetin  (EXP)
rac-lactic acid  (EXP)
SB 431542  (EXP)
silicon dioxide  (EXP)
sodium arsenate  (ISO)
sulfadimethoxine  (ISO)
testosterone enanthate  (EXP)
thimerosal  (EXP)
thioacetamide  (ISO)
titanium dioxide  (ISO)
torcetrapib  (EXP)
trichostatin A  (EXP)
troglitazone  (ISO)
tungsten  (ISO)
valdecoxib  (ISO)
valproic acid  (EXP,ISO)
vinclozolin  (ISO)
vorinostat  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
anterior/posterior pattern specification  (IEA,ISO)
apoptotic process  (IEA)
cellular response to transforming growth factor beta stimulus  (IEA,ISO)
chromatin organization  (IEA)
chromatin remodeling  (IEA)
circadian regulation of gene expression  (IEA,ISS)
cognition  (IEA,ISO)
definitive hemopoiesis  (IEA)
embryonic hemopoiesis  (IEA,ISO,TAS)
epigenetic regulation of gene expression  (ISO)
exploration behavior  (IEA,ISO)
fibroblast proliferation  (IEA,ISO)
homeostasis of number of cells within a tissue  (IEA,ISO)
membrane depolarization  (IEA,ISO)
methylation  (IEA)
negative regulation of DNA methylation-dependent heterochromatin formation  (IMP)
negative regulation of fibroblast proliferation  (IEA,ISO)
positive regulation of DNA-templated transcription  (IBA,IEA,IMP)
positive regulation of gene expression  (IEA,ISO)
positive regulation of transcription by RNA polymerase II  (IDA,IEA,ISO)
positive regulation of transcription of Notch receptor target  (IEA)
post-embryonic development  (IEA,ISO)
protein modification process  (IEA,ISO)
protein-containing complex assembly  (IDA)
regulation of DNA-templated transcription  (IEA)
regulation of gene expression  (IEA,ISO)
regulation of short-term neuronal synaptic plasticity  (IEA,ISO)
response to light stimulus  (IEA,ISO)
response to potassium ion  (IEA,ISO)
rhythmic process  (IEA)
spleen development  (IEA,ISO)
T-helper 2 cell differentiation  (IDA)
transcription initiation-coupled chromatin remodeling  (IDA,IMP)
visual learning  (IEA,ISO)

Cellular Component
cytosol  (IDA,TAS)
histone methyltransferase complex  (IBA,IDA,IEA)
MLL1 complex  (IDA,IPI)
nucleoplasm  (IDA,IEA,TAS)
nucleus  (IDA,IEA,NAS)

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

Human Phenotype
2-3 toe syndactyly  (IAGP)
Abnormal corpus callosum morphology  (IAGP)
Abnormality of the elbow  (IAGP)
Abnormality of the hand  (IAGP)
Accelerated skeletal maturation  (IAGP)
Adrenocortical carcinoma  (IAGP)
Aggressive behavior  (IAGP)
Anxiety  (IAGP)
Aplasia/Hypoplasia of the ribs  (IAGP)
Atrial septal defect  (IAGP)
Atypical behavior  (IAGP)
Autism  (IAGP)
Autistic behavior  (IAGP)
Autosomal dominant inheritance  (IAGP)
Blepharophimosis  (IAGP)
Blue sclerae  (IAGP)
Broad lateral eyebrow  (IAGP)
Broad nasal tip  (IAGP)
Broad-based gait  (IAGP)
Brow ptosis  (IAGP)
Bulbous nose  (IAGP)
Childhood onset  (IAGP)
Clinodactyly  (IAGP)
Clinodactyly of the 5th finger  (IAGP)
Congenital, generalized hypertrichosis  (IAGP)
Constipation  (IAGP)
Contracture of the distal interphalangeal joint of the fingers  (IAGP)
Cryptorchidism  (IAGP)
Decreased response to growth hormone stimulation test  (IAGP)
Delayed gross motor development  (IAGP)
Delayed skeletal maturation  (IAGP)
Delayed speech and language development  (IAGP)
Depressed nasal tip  (IAGP)
Dilatation of renal calices  (IAGP)
Dolichocephaly  (IAGP)
Downslanted palpebral fissures  (IAGP)
Dysphagia  (IAGP)
Elbow hypertrichosis  (IAGP)
Epicanthus  (IAGP)
Esophageal atresia  (IAGP)
Eversion of lateral third of lower eyelids  (IAGP)
Exaggerated cupid's bow  (IAGP)
Facial asymmetry  (IAGP)
Failure to thrive  (IAGP)
Feeding difficulties  (IAGP)
Flat face  (IAGP)
Gastroesophageal reflux  (IAGP)
Generalized hirsutism  (IAGP)
Generalized hypertrichosis  (IAGP)
Global developmental delay  (IAGP)
High forehead  (IAGP)
High palate  (IAGP)
Highly arched eyebrow  (IAGP)
Hirsutism  (IAGP)
Hyperactivity  (IAGP)
Hyperextensibility at elbow  (IAGP)
Hypertelorism  (IAGP)
Hypodontia  (IAGP)
Hypotonia  (IAGP)
Intellectual disability  (IAGP)
Intrauterine growth retardation  (IAGP)
Joint hypermobility  (IAGP)
Language impairment  (IAGP)
Long eyelashes  (IAGP)
Long hallux  (IAGP)
Long palpebral fissure  (IAGP)
Long philtrum  (IAGP)
Low frustration tolerance  (IAGP)
Low posterior hairline  (IAGP)
Low-set ears  (IAGP)
Microcephaly  (IAGP)
Micrognathia  (IAGP)
Motor stereotypy  (IAGP)
Narrow palpebral fissure  (IAGP)
Patent ductus arteriosus  (IAGP)
Pectus excavatum  (IAGP)
Pes planus  (IAGP)
Postnatal growth retardation  (IAGP)
Prominent digit pad  (IAGP)
Prominent forehead  (IAGP)
Psychomotor deterioration  (IAGP)
Ptosis  (IAGP)
Recurrent otitis media  (IAGP)
Rhizomelia  (IAGP)
Round face  (IAGP)
Sacral dimple  (IAGP)
Scoliosis  (IAGP)
Seizure  (IAGP)
Short 5th finger  (IAGP)
Short attention span  (IAGP)
Short columella  (IAGP)
Short middle phalanx of finger  (IAGP)
Short nose  (IAGP)
Short palpebral fissure  (IAGP)
Short phalanx of finger  (IAGP)
Short stature  (IAGP)
Short toe  (IAGP)
Sleep abnormality  (IAGP)
Small hand  (IAGP)
Strabismus  (IAGP)
Synophrys  (IAGP)
Tapered finger  (IAGP)
Telecanthus  (IAGP)
Thick eyebrow  (IAGP)
Thick hair  (IAGP)
Thin upper lip vermilion  (IAGP)
Webbed neck  (IAGP)
Wide nasal bridge  (IAGP)
Wide nose  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Histone methylase MLL1 has critical roles in tumor growth and angiogenesis and its knockdown suppresses tumor growth in vivo. Ansari KI, etal., Oncogene. 2013 Jul 11;32(28):3359-70. doi: 10.1038/onc.2012.352. Epub 2012 Aug 27.
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. GATA3 (GATA-Binding Protein 3)/KMT2A (Lysine-Methyltransferase-2A) Complex by Increasing H3K4-3me (Trimethylated Lysine-4 of Histone-3) Upregulates NCX3 (Na+-Ca2+ Exchanger 3) Transcription and Contributes to Ischemic Preconditioning Neuroprotection. Guida N, etal., Stroke. 2021 Nov;52(11):3680-3691. doi: 10.1161/STROKEAHA.121.034637. Epub 2021 Oct 25.
5. Menin is necessary for long term maintenance of meningioma-1 driven leukemia. Libbrecht C, etal., Leukemia. 2021 May;35(5):1405-1417. doi: 10.1038/s41375-021-01146-z. Epub 2021 Feb 4.
6. ZF-CxxC domain-containing proteins, CpG islands and the chromatin connection. Long HK, etal., Biochem Soc Trans. 2013 Jun;41(3):727-40. doi: 10.1042/BST20130028.
7. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
8. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
9. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
10. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
11. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
12. MLL1 and DOT1L cooperate with meningioma-1 to induce acute myeloid leukemia. Riedel SS, etal., J Clin Invest. 2016 Apr 1;126(4):1438-50. doi: 10.1172/JCI80825. Epub 2016 Feb 29.
13. The COMPASS family of histone H3K4 methylases: mechanisms of regulation in development and disease pathogenesis. Shilatifard A Annu Rev Biochem. 2012;81:65-95. doi: 10.1146/annurev-biochem-051710-134100.
14. Inhibition of the H3K4 methyltransferase MLL1/WDR5 complex attenuates renal senescence in ischemia reperfusion mice by reduction of p16INK4a. Shimoda H, etal., Kidney Int. 2019 Nov;96(5):1162-1175. doi: 10.1016/j.kint.2019.06.021. Epub 2019 Aug 1.
15. Rearrangement of the MLL gene in acute lymphoblastic and acute myeloid leukemias with 11q23 chromosomal translocations. Thirman MJ, etal., N Engl J Med. 1993 Sep 23;329(13):909-14.
16. Deregulated expression of selected histone methylases and demethylases in prostate carcinoma. Vieira FQ, etal., Endocr Relat Cancer. 2013 Dec 16;21(1):51-61. doi: 10.1530/ERC-13-0375. Print 2014 Feb.
17. Clinical features and next-generation sequencing landscape of essential thrombocythemia, prefibrotic primary myelofibrosis, and overt fibrotic primary myelofibrosis: a Chinese monocentric retrospective study. Zhang L, etal., J Cancer Res Clin Oncol. 2022 Jun 22. doi: 10.1007/s00432-022-04067-1.
Additional References at PubMed
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PMID:23340173   PMID:23412334   PMID:23443559   PMID:23453805   PMID:23453885   PMID:23455922   PMID:23457195   PMID:23479570   PMID:23508102   PMID:23515098   PMID:23562474   PMID:23624644  
PMID:23736260   PMID:23744037   PMID:23798388   PMID:23868976   PMID:23870121   PMID:23923644   PMID:23949951   PMID:23990460   PMID:23994619   PMID:24051379   PMID:24057258   PMID:24081332  
PMID:24086652   PMID:24150221   PMID:24163370   PMID:24166297   PMID:24189350   PMID:24235145   PMID:24244196   PMID:24301523   PMID:24323992   PMID:24373511   PMID:24612538   PMID:24639526  
PMID:24680668   PMID:24695851   PMID:24735925   PMID:24769646   PMID:24793694   PMID:24798483   PMID:24818805   PMID:24831003   PMID:24858818   PMID:24880690   PMID:24886118   PMID:24930734  
PMID:24981860   PMID:24999758   PMID:25016062   PMID:25031740   PMID:25071008   PMID:25082813   PMID:25238203   PMID:25264566   PMID:25281560   PMID:25305204   PMID:25307539   PMID:25349154  
PMID:25387813   PMID:25456127   PMID:25510485   PMID:25538041   PMID:25552680   PMID:25561738   PMID:25593309   PMID:25633166   PMID:25751424   PMID:25773519   PMID:25793396   PMID:25929198  
PMID:26059830   PMID:26118503   PMID:26163765   PMID:26167872   PMID:26186194   PMID:26188848   PMID:26214902   PMID:26237430   PMID:26245978   PMID:26267306   PMID:26320581   PMID:26324722  
PMID:26329759   PMID:26431491   PMID:26478434   PMID:26496610   PMID:26593443   PMID:26625313   PMID:26638075   PMID:26690532   PMID:26711341   PMID:26762252   PMID:26791235   PMID:26833731  
PMID:26841866   PMID:26864203   PMID:26886794   PMID:26902498   PMID:26923329   PMID:26970896   PMID:26990989   PMID:27119507   PMID:27192115   PMID:27240832   PMID:27248496   PMID:27282883  
PMID:27318442   PMID:27320412   PMID:27343252   PMID:27344946   PMID:27374225   PMID:27435003   PMID:27447986   PMID:27561414   PMID:27563068   PMID:27588400   PMID:27619068   PMID:27625305  
PMID:27634302   PMID:27705803   PMID:27759909   PMID:27777327   PMID:27786413   PMID:27796741   PMID:27856324   PMID:27881871   PMID:27888797   PMID:28063190   PMID:28094252   PMID:28108543  
PMID:28131992   PMID:28182322   PMID:28242784   PMID:28359930   PMID:28394257   PMID:28412727   PMID:28481362   PMID:28500307   PMID:28514442   PMID:28535805   PMID:28609655   PMID:28626219  
PMID:28663191   PMID:28690313   PMID:28701730   PMID:28726783   PMID:28745571   PMID:28756022   PMID:28803964   PMID:28905448   PMID:28911906   PMID:28921816   PMID:28939057   PMID:28977666  
PMID:29155023   PMID:29203834   PMID:29276034   PMID:29346117   PMID:29351983   PMID:29384595   PMID:29386396   PMID:29395067   PMID:29507755   PMID:29509190   PMID:29777171   PMID:29897600  
PMID:29943896   PMID:29978456   PMID:29997176   PMID:30014449   PMID:30021884   PMID:30089852   PMID:30107050   PMID:30143999   PMID:30203571   PMID:30209403   PMID:30305169   PMID:30352306  
PMID:30387535   PMID:30415952   PMID:30463901   PMID:30503706   PMID:30549396   PMID:30554943   PMID:30575818   PMID:30686591   PMID:30804502   PMID:30833792   PMID:30899083   PMID:30953031  
PMID:31005612   PMID:31076518   PMID:31090199   PMID:31091453   PMID:31136005   PMID:31202576   PMID:31395602   PMID:31400120   PMID:31405949   PMID:31425921   PMID:31485071   PMID:31527241  
PMID:31527615   PMID:31544921   PMID:31586073   PMID:31592798   PMID:31685992   PMID:31698332   PMID:31705930   PMID:31707119   PMID:31710778   PMID:31714753   PMID:31775036   PMID:31804488  
PMID:31852898   PMID:31855575   PMID:31856871   PMID:31894899   PMID:31913156   PMID:31951812   PMID:32076268   PMID:32114371   PMID:32128942   PMID:32196814   PMID:32203420   PMID:32243611  
PMID:32320749   PMID:32320859   PMID:32345914   PMID:32347296   PMID:32348849   PMID:32376390   PMID:32416067   PMID:32437908   PMID:32519403   PMID:32641752   PMID:32694731   PMID:32707033  
PMID:32744500   PMID:32764680   PMID:32876512   PMID:33020282   PMID:33022573   PMID:33043602   PMID:33069783   PMID:33201593   PMID:33349639   PMID:33431365   PMID:33472061   PMID:33477970  
PMID:33512459   PMID:33581643   PMID:33606679   PMID:33623141   PMID:33637726   PMID:33640491   PMID:33653378   PMID:33658012   PMID:33783954   PMID:33916271   PMID:33924850   PMID:33961781  
PMID:33983906   PMID:34006870   PMID:34012049   PMID:34039707   PMID:34048072   PMID:34077726   PMID:34079125   PMID:34080665   PMID:34111240   PMID:34228147   PMID:34298117   PMID:34320268  
PMID:34349066   PMID:34405474   PMID:34431785   PMID:34469078   PMID:34489550   PMID:34550633   PMID:34575904   PMID:34588432   PMID:34591430   PMID:34663924   PMID:34698116   PMID:34850113  
PMID:34857952   PMID:34928138   PMID:34933446   PMID:34970734   PMID:35013218   PMID:35140242   PMID:35182466   PMID:35256949   PMID:35271311   PMID:35384245   PMID:35439318   PMID:35462170  
PMID:35584376   PMID:35584667   PMID:35617449   PMID:35680797   PMID:35705031   PMID:35773769   PMID:35833755   PMID:35850772   PMID:35893049   PMID:36042201   PMID:36068197   PMID:36089195  
PMID:36094360   PMID:36129980   PMID:36215168   PMID:36244648   PMID:36282215   PMID:36352192   PMID:36358022   PMID:36373674   PMID:36435883   PMID:36469134   PMID:36485136   PMID:36493338  
PMID:36525029   PMID:36629017   PMID:36736316   PMID:36774506   PMID:36843114   PMID:36892949   PMID:36931259   PMID:37019990   PMID:37075125   PMID:37075569   PMID:37099340   PMID:37100882  
PMID:37221837   PMID:37335206   PMID:37379335   PMID:37517063   PMID:37689310   PMID:37788669   PMID:37827155   PMID:37852994   PMID:37974198   PMID:38003662   PMID:38012744   PMID:38029383  
PMID:38175436   PMID:38280479   PMID:38297188   PMID:38317232   PMID:38576284  


Genomics

Comparative Map Data
KMT2A
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3811118,436,492 - 118,526,832 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl11118,436,456 - 118,526,832 (+)EnsemblGRCh38hg38GRCh38
GRCh3711118,307,207 - 118,397,547 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3611117,812,415 - 117,901,146 (+)NCBINCBI36Build 36hg18NCBI36
Build 3411117,812,414 - 117,901,146NCBI
Celera11115,467,997 - 115,556,730 (+)NCBICelera
Cytogenetic Map11q23.3NCBI
HuRef11114,244,065 - 114,334,229 (+)NCBIHuRef
CHM1_111118,193,852 - 118,284,190 (+)NCBICHM1_1
T2T-CHM13v2.011118,455,794 - 118,546,121 (+)NCBIT2T-CHM13v2.0
Kmt2a
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39944,714,652 - 44,793,492 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl944,714,652 - 44,792,594 (-)EnsemblGRCm39 Ensembl
GRCm38944,803,355 - 44,881,352 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl944,803,355 - 44,881,296 (-)EnsemblGRCm38mm10GRCm38
MGSCv37944,611,438 - 44,689,357 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36944,554,350 - 44,632,269 (-)NCBIMGSCv36mm8
Celera942,068,287 - 42,146,334 (-)NCBICelera
Cytogenetic Map9A5.2NCBI
cM Map924.84NCBI
Kmt2a
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8854,013,547 - 54,089,219 (-)NCBIGRCr8
mRatBN7.2845,116,763 - 45,193,320 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl845,118,814 - 45,193,181 (-)EnsemblmRatBN7.2 Ensembl
Rnor_6.0849,110,407 - 49,185,872 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl849,114,990 - 49,158,971 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0847,728,915 - 47,804,551 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4847,759,175 - 47,834,586 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera844,701,780 - 44,782,476 (-)NCBICelera
Cytogenetic Map8q22NCBI
Kmt2a
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541219,586,141 - 19,665,527 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495541219,586,435 - 19,670,149 (+)NCBIChiLan1.0ChiLan1.0
KMT2A
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v29119,139,884 - 119,230,967 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan111120,244,773 - 120,335,992 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v011113,273,198 - 113,364,404 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.111117,203,337 - 117,294,755 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl11117,204,820 - 117,290,100 (+)Ensemblpanpan1.1panPan2
KMT2A
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1515,212,559 - 15,302,825 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl515,217,348 - 15,270,971 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha515,263,739 - 15,351,690 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0515,154,723 - 15,242,720 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl515,155,965 - 15,242,720 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1515,293,171 - 15,381,085 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0515,196,657 - 15,284,731 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0515,237,660 - 15,325,572 (-)NCBIUU_Cfam_GSD_1.0
Kmt2a
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404947100,558,662 - 100,644,258 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365423,391,774 - 3,562,147 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365423,480,071 - 3,566,823 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
KMT2A
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl945,743,397 - 45,824,884 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1945,743,566 - 45,828,559 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2950,878,276 - 50,914,778 (-)NCBISscrofa10.2Sscrofa10.2susScr3
KMT2A
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11109,819,748 - 109,912,763 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1109,853,758 - 109,908,113 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604316,125,381 - 16,218,277 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Kmt2a
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462478413,824,541 - 13,908,077 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462478413,824,507 - 13,912,672 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in KMT2A
2379 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001197104.2(KMT2A):c.7144C>T (p.Arg2382Ter) single nucleotide variant Wiedemann-Steiner syndrome [RCV000030724] Chr11:118503036 [GRCh38]
Chr11:118373751 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.7004C>T (p.Ala2335Val) single nucleotide variant not provided [RCV001564089] Chr11:118502896 [GRCh38]
Chr11:118373611 [GRCh37]
Chr11:11q23.3		 likely benign|conflicting interpretations of pathogenicity
NM_001197104.2(KMT2A):c.3563G>T (p.Cys1188Phe) single nucleotide variant not provided [RCV001544968] Chr11:118478195 [GRCh38]
Chr11:118348910 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.9857C>T (p.Pro3286Leu) single nucleotide variant not provided [RCV003321157] Chr11:118505749 [GRCh38]
Chr11:118376464 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.1907A>C (p.Lys636Thr) single nucleotide variant not provided [RCV003321206] Chr11:118473066 [GRCh38]
Chr11:118343781 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.3452G>A (p.Arg1151Gln) single nucleotide variant not provided [RCV000518875] Chr11:118478084 [GRCh38]
Chr11:118348799 [GRCh37]
Chr11:11q23.3		 likely pathogenic
NM_001197104.2(KMT2A):c.2635G>T (p.Glu879Ter) single nucleotide variant not provided [RCV000520117] Chr11:118473794 [GRCh38]
Chr11:118344509 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.9383del (p.Met3128fs) deletion not provided [RCV000521238] Chr11:118505275 [GRCh38]
Chr11:118375990 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.4423TGT[1] (p.Cys1476del) microsatellite not provided [RCV000523203] Chr11:118488704..118488706 [GRCh38]
Chr11:118359419..118359421 [GRCh37]
Chr11:11q23.3		 likely pathogenic
NM_001197104.2(KMT2A):c.7438C>T (p.Arg2480Ter) single nucleotide variant Wiedemann-Steiner syndrome [RCV000626313]|not provided [RCV000520124] Chr11:118503330 [GRCh38]
Chr11:118374045 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.8806_8809del (p.Ser2935_Val2936insTer) microsatellite Wiedemann-Steiner syndrome [RCV000030721]|not provided [RCV003556091] Chr11:118504691..118504694 [GRCh38]
Chr11:118375406..118375409 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.8267del (p.Asn2755_Leu2756insTer) deletion Wiedemann-Steiner syndrome [RCV000030722] Chr11:118504158 [GRCh38]
Chr11:118374873 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.6913del (p.Ser2305fs) deletion Wiedemann-Steiner syndrome [RCV000030723] Chr11:118502805 [GRCh38]
Chr11:118373520 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.4599dup (p.Lys1534Ter) duplication Wiedemann-Steiner syndrome [RCV000030725] Chr11:118490151..118490152 [GRCh38]
Chr11:118360866..118360867 [GRCh37]
Chr11:11q23.3		 pathogenic
GRCh38/hg38 11q23.3-25(chr11:116851395-134998513)x3 copy number gain See cases [RCV000050331] Chr11:116851395..134998513 [GRCh38]
Chr11:116722111..134868407 [GRCh37]
Chr11:116227321..134373617 [NCBI36]
Chr11:11q23.3-25		 pathogenic
GRCh38/hg38 11q23.2-23.3(chr11:113444446-120648921)x3 copy number gain See cases [RCV000050627] Chr11:113444446..120648921 [GRCh38]
Chr11:113315168..120519630 [GRCh37]
Chr11:112820378..120024840 [NCBI36]
Chr11:11q23.2-23.3		 pathogenic
GRCh38/hg38 11q22.1-25(chr11:100348599-135040246)x3 copy number gain See cases [RCV000053638] Chr11:100348599..135040246 [GRCh38]
Chr11:100219331..134910140 [GRCh37]
Chr11:99724541..134415350 [NCBI36]
Chr11:11q22.1-25		 pathogenic
NM_001197104.2(KMT2A):c.9139C>T (p.Gln3047Ter) single nucleotide variant not provided [RCV000658069] Chr11:118505031 [GRCh38]
Chr11:118375746 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.7567_7570del (p.Val2523fs) deletion Wiedemann-Steiner syndrome [RCV001029947]|not provided [RCV000171465] Chr11:118503457..118503460 [GRCh38]
Chr11:118374172..118374175 [GRCh37]
Chr11:11q23.3		 pathogenic|likely pathogenic
NM_001197104.2(KMT2A):c.8767_8768del (p.Gln2923fs) deletion Wiedemann-Steiner syndrome [RCV001293707] Chr11:118504658..118504659 [GRCh38]
Chr11:118375373..118375374 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.1868del (p.Lys623fs) deletion Inborn genetic diseases [RCV000190780] Chr11:118473025 [GRCh38]
Chr11:118343740 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.2062T>A (p.Phe688Ile) single nucleotide variant not provided [RCV001545570] Chr11:118473221 [GRCh38]
Chr11:118343936 [GRCh37]
Chr11:11q23.3		 likely benign|conflicting interpretations of pathogenicity
NM_001197104.2(KMT2A):c.11071+1G>A single nucleotide variant Wiedemann-Steiner syndrome [RCV000515671] Chr11:118510119 [GRCh38]
Chr11:118380834 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.2673_2674del (p.Arg893fs) microsatellite Wiedemann-Steiner syndrome [RCV000146137] Chr11:118473829..118473830 [GRCh38]
Chr11:118344544..118344545 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.4284A>C (p.Ile1428=) single nucleotide variant not provided [RCV001522015]|not specified [RCV000146138] Chr11:118484927 [GRCh38]
Chr11:118355642 [GRCh37]
Chr11:11q23.3		 benign
NM_001197104.2(KMT2A):c.4426T>A (p.Cys1476Ser) single nucleotide variant Wiedemann-Steiner syndrome [RCV000146139] Chr11:118488707 [GRCh38]
Chr11:118359422 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.458C>G (p.Ser153Ter) single nucleotide variant Wiedemann-Steiner syndrome [RCV000146140] Chr11:118468800 [GRCh38]
Chr11:118339515 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.5679A>G (p.Leu1893=) single nucleotide variant not provided [RCV001511481]|not specified [RCV000146141] Chr11:118497950 [GRCh38]
Chr11:118368665 [GRCh37]
Chr11:11q23.3		 benign
NM_001197104.2(KMT2A):c.6572G>A (p.Arg2191Gln) single nucleotide variant KMT2A-related condition [RCV003935248]|Wiedemann-Steiner syndrome [RCV002505127]|not provided [RCV000906216]|not specified [RCV000146142] Chr11:118502464 [GRCh38]
Chr11:118373179 [GRCh37]
Chr11:11q23.3		 benign|likely benign
NM_001197104.2(KMT2A):c.7254C>T (p.Asn2418=) single nucleotide variant not provided [RCV001517197]|not specified [RCV000146143] Chr11:118503146 [GRCh38]
Chr11:118373861 [GRCh37]
Chr11:11q23.3		 benign
NM_001197104.2(KMT2A):c.7831G>T (p.Glu2611Ter) single nucleotide variant Wiedemann-Steiner syndrome [RCV000146144] Chr11:118503723 [GRCh38]
Chr11:118374438 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.8095C>T (p.Arg2699Ter) single nucleotide variant Wiedemann-Steiner syndrome [RCV000146145]|not provided [RCV001269710] Chr11:118503987 [GRCh38]
Chr11:118374702 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.8961T>A (p.Thr2987=) single nucleotide variant not provided [RCV000962225]|not specified [RCV000146146] Chr11:118504853 [GRCh38]
Chr11:118375568 [GRCh37]
Chr11:11q23.3		 benign
NM_001197104.2(KMT2A):c.89C>G (p.Ala30Gly) single nucleotide variant not provided [RCV000442939]|not specified [RCV000146147] Chr11:118436601 [GRCh38]
Chr11:118307316 [GRCh37]
Chr11:11q23.3		 benign|likely benign
NM_001197104.2(KMT2A):c.9391G>A (p.Gly3131Ser) single nucleotide variant Wiedemann-Steiner syndrome [RCV002490873]|not provided [RCV000514243] Chr11:118505283 [GRCh38]
Chr11:118375998 [GRCh37]
Chr11:11q23.3		 benign|likely benign
GRCh38/hg38 11q23.3-25(chr11:116851372-134998526)x3 copy number gain See cases [RCV000134064] Chr11:116851372..134998526 [GRCh38]
Chr11:116722088..134868420 [GRCh37]
Chr11:116227298..134373630 [NCBI36]
Chr11:11q23.3-25		 pathogenic
GRCh38/hg38 11q23.2-25(chr11:112864326-131189315)x3 copy number gain See cases [RCV000137582] Chr11:112864326..131189315 [GRCh38]
Chr11:112832130..131059210 [GRCh37]
Chr11:112240259..130564420 [NCBI36]
Chr11:11q23.2-25		 pathogenic
GRCh38/hg38 11q23.3-25(chr11:116868935-135075271)x3 copy number gain See cases [RCV000137453] Chr11:116868935..135075271 [GRCh38]
Chr11:116739651..134945165 [GRCh37]
Chr11:116244861..134450377 [NCBI36]
Chr11:11q23.3-25		 pathogenic|conflicting data from submitters
GRCh38/hg38 11q23.3-25(chr11:116806268-135075271)x3 copy number gain See cases [RCV000138307] Chr11:116806268..135075271 [GRCh38]
Chr11:116676984..134945165 [GRCh37]
Chr11:116182194..134450377 [NCBI36]
Chr11:11q23.3-25		 pathogenic
GRCh38/hg38 11q23.3-24.2(chr11:117333952-127709156)x3 copy number gain See cases [RCV000139362] Chr11:117333952..127709156 [GRCh38]
Chr11:117204668..127579051 [GRCh37]
Chr11:116709878..127084261 [NCBI36]
Chr11:11q23.3-24.2		 pathogenic
GRCh38/hg38 11q23.3(chr11:118503581-118554704)x3 copy number gain See cases [RCV000141999] Chr11:118503581..118554704 [GRCh38]
Chr11:118374296..118425419 [GRCh37]
Chr11:117879506..117930629 [NCBI36]
Chr11:11q23.3		 uncertain significance|conflicting data from submitters
GRCh38/hg38 11q23.3-25(chr11:116851395-134998513)x3 copy number gain See cases [RCV000148276] Chr11:116851395..134998513 [GRCh38]
Chr11:116722111..134868407 [GRCh37]
Chr11:116227321..134373617 [NCBI36]
Chr11:11q23.3-25		 pathogenic
NM_001197104.2(KMT2A):c.2905C>G (p.Leu969Val) single nucleotide variant not specified [RCV000202853] Chr11:118474064 [GRCh38]
Chr11:118344779 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.2233C>T (p.Arg745Ter) single nucleotide variant Cornelia de Lange syndrome 1 [RCV000157053]|not provided [RCV000599517] Chr11:118473392 [GRCh38]
Chr11:118344107 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.6329C>G (p.Ser2110Ter) single nucleotide variant not provided [RCV000203050] Chr11:118501681 [GRCh38]
Chr11:118372396 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.10217C>A (p.Ser3406Ter) single nucleotide variant not provided [RCV000254798] Chr11:118506109 [GRCh38]
Chr11:118376824 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.1504G>A (p.Glu502Lys) single nucleotide variant not provided [RCV000513848]|not specified [RCV000192798] Chr11:118472663 [GRCh38]
Chr11:118343378 [GRCh37]
Chr11:11q23.3		 benign|uncertain significance
NM_001197104.2(KMT2A):c.1810A>G (p.Met604Val) single nucleotide variant KMT2A-related condition [RCV003927785]|not provided [RCV001495318]|not specified [RCV000194029] Chr11:118472969 [GRCh38]
Chr11:118343684 [GRCh37]
Chr11:11q23.3		 benign|likely benign|conflicting interpretations of pathogenicity
NM_001197104.2(KMT2A):c.11084C>G (p.Ser3695Ter) single nucleotide variant Wiedemann-Steiner syndrome [RCV000194582] Chr11:118511963 [GRCh38]
Chr11:118382678 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.10334dup (p.Ser3446fs) duplication Wiedemann-Steiner syndrome [RCV000196622] Chr11:118506224..118506225 [GRCh38]
Chr11:118376939..118376940 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.4086+1G>A single nucleotide variant Wiedemann-Steiner syndrome [RCV000198164] Chr11:118482496 [GRCh38]
Chr11:118353211 [GRCh37]
Chr11:11q23.3		 likely pathogenic
NM_001197104.2(KMT2A):c.4342T>C (p.Cys1448Arg) single nucleotide variant Wiedemann-Steiner syndrome [RCV000199053] Chr11:118488623 [GRCh38]
Chr11:118359338 [GRCh37]
Chr11:11q23.3		 likely pathogenic
NM_001197104.2(KMT2A):c.3651dup (p.Lys1218fs) duplication Wiedemann-Steiner syndrome [RCV000199889] Chr11:118481730..118481731 [GRCh38]
Chr11:118352445..118352446 [GRCh37]
Chr11:11q23.3		 pathogenic|likely pathogenic
NM_001197104.2(KMT2A):c.5494C>A (p.Pro1832Thr) single nucleotide variant Wiedemann-Steiner syndrome [RCV000191101] Chr11:118495830 [GRCh38]
Chr11:118366545 [GRCh37]
Chr11:11q23.3		 likely pathogenic
NM_001197104.2(KMT2A):c.6811del (p.Arg2271fs) deletion Wiedemann-Steiner syndrome [RCV000194967] Chr11:118502701 [GRCh38]
Chr11:118373416 [GRCh37]
Chr11:11q23.3		 pathogenic
GRCh37/hg19 11q23.3-25(chr11:116700253-134904063) copy number gain not provided [RCV000767816] Chr11:116700253..134904063 [GRCh37]
Chr11:11q23.3-25		 pathogenic
GRCh37/hg19 11q23.3-25(chr11:116691675-134889485) copy number gain not provided [RCV000767667] Chr11:116691675..134889485 [GRCh37]
Chr11:11q23.3-25		 pathogenic
NM_001197104.2(KMT2A):c.10832C>T (p.Ala3611Val) single nucleotide variant Inborn genetic diseases [RCV002569050]|not provided [RCV001571109] Chr11:118507606 [GRCh38]
Chr11:118378321 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.2633G>A (p.Arg878Gln) single nucleotide variant Atypical behavior [RCV000234902]|Language disorder [RCV001256677]|not provided [RCV003556297] Chr11:118473792 [GRCh38]
Chr11:118344507 [GRCh37]
Chr11:11q23.3		 likely benign|uncertain significance
NM_001197104.2(KMT2A):c.158C>T (p.Ala53Val) single nucleotide variant not provided [RCV000513977]|not specified [RCV000239337] Chr11:118436670 [GRCh38]
Chr11:118307385 [GRCh37]
Chr11:11q23.3		 benign|likely benign
NM_001197104.2(KMT2A):c.3322A>G (p.Met1108Val) single nucleotide variant not provided [RCV001888899] Chr11:118476970 [GRCh38]
Chr11:118347685 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.3539G>T (p.Gly1180Val) single nucleotide variant Inborn genetic diseases [RCV000623004] Chr11:118478171 [GRCh38]
Chr11:118348886 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.2896A>T (p.Arg966Ter) single nucleotide variant Wiedemann-Steiner syndrome [RCV000625799] Chr11:118474055 [GRCh38]
Chr11:118344770 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.1038del (p.Val347fs) deletion Wiedemann-Steiner syndrome [RCV000626315] Chr11:118472197 [GRCh38]
Chr11:118342912 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.4331_4332dup (p.Phe1445fs) microsatellite Inborn genetic diseases [RCV000622349] Chr11:118484971..118484972 [GRCh38]
Chr11:118355686..118355687 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.3341C>A (p.Ser1114Ter) single nucleotide variant Wiedemann-Steiner syndrome [RCV000578173] Chr11:118477973 [GRCh38]
Chr11:118348688 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.10171C>T (p.Gln3391Ter) single nucleotide variant not provided [RCV000519110] Chr11:118506063 [GRCh38]
Chr11:118376778 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.2262del (p.Ser754_Met755insTer) deletion Inborn genetic diseases [RCV000623255] Chr11:118473420 [GRCh38]
Chr11:118344135 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.4029del (p.Lys1343fs) deletion Inborn genetic diseases [RCV000623471] Chr11:118482436 [GRCh38]
Chr11:118353151 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.6487C>T (p.Arg2163Ter) single nucleotide variant Inborn genetic diseases [RCV001267255]|Wiedemann-Steiner syndrome [RCV003532154]|not provided [RCV000521526] Chr11:118501839 [GRCh38]
Chr11:118372554 [GRCh37]
Chr11:11q23.3		 pathogenic
GRCh37/hg19 11q23.3(chr11:115215434-120559928)x3 copy number gain See cases [RCV000240308] Chr11:115215434..120559928 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.5251A>T (p.Lys1751Ter) single nucleotide variant Inborn genetic diseases [RCV000624173]|Wiedemann-Steiner syndrome [RCV003456046]|not provided [RCV000277593] Chr11:118494360 [GRCh38]
Chr11:118365075 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.8864_8868del (p.Ile2955fs) deletion not provided [RCV000282084] Chr11:118504755..118504759 [GRCh38]
Chr11:118375470..118375474 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.3560A>T (p.Gln1187Leu) single nucleotide variant not provided [RCV000291800] Chr11:118478192 [GRCh38]
Chr11:118348907 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.3991C>T (p.Gln1331Ter) single nucleotide variant not provided [RCV000326311] Chr11:118482071 [GRCh38]
Chr11:118352786 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.3565T>C (p.Cys1189Arg) single nucleotide variant Wiedemann-Steiner syndrome [RCV001328711]|not provided [RCV000354494] Chr11:118478197 [GRCh38]
Chr11:118348912 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.10580G>A (p.Arg3527Gln) single nucleotide variant not provided [RCV001786354]|not specified [RCV000290461] Chr11:118506472 [GRCh38]
Chr11:118377187 [GRCh37]
Chr11:11q23.3		 likely benign|conflicting interpretations of pathogenicity
NM_001197104.2(KMT2A):c.3301C>T (p.Arg1101Ter) single nucleotide variant Inborn genetic diseases [RCV001267617]|Wiedemann-Steiner syndrome [RCV001254088]|intellectual deficiency [RCV000415284]|not provided [RCV000392937] Chr11:118476949 [GRCh38]
Chr11:118347664 [GRCh37]
Chr11:11q23.3		 pathogenic|likely pathogenic
NM_001197104.2(KMT2A):c.9910_9911del (p.Leu3304fs) deletion not provided [RCV000262378] Chr11:118505802..118505803 [GRCh38]
Chr11:118376517..118376518 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.9133C>T (p.Gln3045Ter) single nucleotide variant not provided [RCV000489180] Chr11:118505025 [GRCh38]
Chr11:118375740 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.3215G>T (p.Cys1072Phe) single nucleotide variant not provided [RCV000489283] Chr11:118476863 [GRCh38]
Chr11:118347578 [GRCh37]
Chr11:11q23.3		 likely pathogenic
NM_001197104.2(KMT2A):c.4343G>A (p.Cys1448Tyr) single nucleotide variant Wiedemann-Steiner syndrome [RCV001376037]|not provided [RCV000489772] Chr11:118488624 [GRCh38]
Chr11:118359339 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.3193G>T (p.Gly1065Ter) single nucleotide variant not provided [RCV000487778] Chr11:118476841 [GRCh38]
Chr11:118347556 [GRCh37]
Chr11:11q23.3		 likely pathogenic
NM_001197104.2(KMT2A):c.6976G>A (p.Val2326Met) single nucleotide variant not provided [RCV003321303] Chr11:118502868 [GRCh38]
Chr11:118373583 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.6158+1del deletion Wiedemann-Steiner syndrome [RCV003314479] Chr11:118499914 [GRCh38]
Chr11:118370629 [GRCh37]
Chr11:11q23.3		 likely pathogenic
NM_001197104.2(KMT2A):c.3019G>T (p.Gly1007Cys) single nucleotide variant Kabuki syndrome 1 [RCV000578132]|Wiedemann-Steiner syndrome [RCV000988747] Chr11:118474178 [GRCh38]
Chr11:118344893 [GRCh37]
Chr11:11q23.3		 pathogenic|likely benign|uncertain significance
NM_001197104.2(KMT2A):c.7526_7528del (p.Glu2509del) deletion not provided [RCV002284893] Chr11:118503416..118503418 [GRCh38]
Chr11:118374131..118374133 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.9716C>T (p.Pro3239Leu) single nucleotide variant not provided [RCV000489839] Chr11:118505608 [GRCh38]
Chr11:118376323 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.5332del (p.Arg1778fs) deletion not provided [RCV002292844] Chr11:118494736 [GRCh38]
Chr11:118365451 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.3651_3652del (p.Lys1219fs) microsatellite Inborn genetic diseases [RCV000623935] Chr11:118481728..118481729 [GRCh38]
Chr11:118352443..118352444 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.2193del (p.Ser732fs) deletion Inborn genetic diseases [RCV000622446] Chr11:118473352 [GRCh38]
Chr11:118344067 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.3521T>G (p.Leu1174Ter) single nucleotide variant Wiedemann-Steiner syndrome [RCV000625973] Chr11:118478153 [GRCh38]
Chr11:118348868 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.3566G>A (p.Cys1189Tyr) single nucleotide variant Wiedemann-Steiner syndrome [RCV000626314] Chr11:118478198 [GRCh38]
Chr11:118348913 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.6305del (p.Pro2102fs) deletion not provided [RCV000627612] Chr11:118501132 [GRCh38]
Chr11:118371847 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.5803-1G>A single nucleotide variant Kabuki syndrome 1 [RCV000578141] Chr11:118498369 [GRCh38]
Chr11:118369084 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.4012+1G>C single nucleotide variant not provided [RCV000598777] Chr11:118482093 [GRCh38]
Chr11:118352808 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.6505+1G>A single nucleotide variant not provided [RCV000599068] Chr11:118501858 [GRCh38]
Chr11:118372573 [GRCh37]
Chr11:11q23.3		 likely pathogenic
NM_001197104.2(KMT2A):c.7726_7729del (p.Pro2576fs) microsatellite not provided [RCV000599244] Chr11:118503614..118503617 [GRCh38]
Chr11:118374329..118374332 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.478C>T (p.Arg160Ter) single nucleotide variant Wiedemann-Steiner syndrome [RCV001261357]|not provided [RCV000599486] Chr11:118468820 [GRCh38]
Chr11:118339535 [GRCh37]
Chr11:11q23.3		 pathogenic|likely pathogenic
NM_001197104.2(KMT2A):c.4576-1G>C single nucleotide variant not provided [RCV000599472] Chr11:118490128 [GRCh38]
Chr11:118360843 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.2514del (p.Trp838fs) deletion not provided [RCV000523889] Chr11:118473672 [GRCh38]
Chr11:118344387 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.9694C>T (p.Arg3232Ter) single nucleotide variant not provided [RCV000627272] Chr11:118505586 [GRCh38]
Chr11:118376301 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.2517dup (p.Thr840fs) duplication not provided [RCV000415772] Chr11:118473673..118473674 [GRCh38]
Chr11:118344388..118344389 [GRCh37]
Chr11:11q23.3		 likely pathogenic
NM_001197104.2(KMT2A):c.2318dup (p.Ser774fs) duplication Adrenal cortex carcinoma [RCV001814982]|Inborn genetic diseases [RCV001266292]|Wiedemann-Steiner syndrome [RCV000415145]|not provided [RCV000598825] Chr11:118473470..118473471 [GRCh38]
Chr11:118344185..118344186 [GRCh37]
Chr11:11q23.3		 pathogenic|uncertain significance
NM_001197104.2(KMT2A):c.2004T>G (p.Ser668=) single nucleotide variant KMT2A-related condition [RCV003957890]|not provided [RCV000416082] Chr11:118473163 [GRCh38]
Chr11:118343878 [GRCh37]
Chr11:11q23.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001197104.2(KMT2A):c.10901-5A>G single nucleotide variant not provided [RCV000416138]|not specified [RCV003479110] Chr11:118509943 [GRCh38]
Chr11:118380658 [GRCh37]
Chr11:11q23.3		 likely benign|uncertain significance
NM_001197104.2(KMT2A):c.10690C>T (p.Arg3564Trp) single nucleotide variant not provided [RCV000919330]|not specified [RCV000733371] Chr11:118506582 [GRCh38]
Chr11:118377297 [GRCh37]
Chr11:11q23.3		 benign|likely benign
NM_001197104.2(KMT2A):c.10715T>G (p.Ile3572Ser) single nucleotide variant KMT2A-related condition [RCV003965546]|not provided [RCV000891406]|not specified [RCV000734177] Chr11:118506607 [GRCh38]
Chr11:118377322 [GRCh37]
Chr11:11q23.3		 benign|likely benign
NM_001197104.2(KMT2A):c.6034A>T (p.Lys2012Ter) single nucleotide variant not provided [RCV000732679] Chr11:118499375 [GRCh38]
Chr11:118370090 [GRCh37]
Chr11:11q23.3		 likely pathogenic
NM_001197104.2(KMT2A):c.5287C>T (p.Arg1763Trp) single nucleotide variant not provided [RCV003766157]|not specified [RCV000413512] Chr11:118494396 [GRCh38]
Chr11:118365111 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.3464G>A (p.Cys1155Tyr) single nucleotide variant Wiedemann-Steiner syndrome [RCV000824854]|not provided [RCV000414422] Chr11:118478096 [GRCh38]
Chr11:118348811 [GRCh37]
Chr11:11q23.3		 pathogenic|likely pathogenic
GRCh37/hg19 11q23.3-25(chr11:116681007-134938470)x3 copy number gain See cases [RCV000449449] Chr11:116681007..134938470 [GRCh37]
Chr11:11q23.3-25		 pathogenic
GRCh37/hg19 11q23.3(chr11:118374043-118422564)x3 copy number gain See cases [RCV000446208] Chr11:118374043..118422564 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.7659dup (p.Glu2554fs) duplication not provided [RCV000442553] Chr11:118503550..118503551 [GRCh38]
Chr11:118374265..118374266 [GRCh37]
Chr11:11q23.3		 likely pathogenic
NM_001197104.2(KMT2A):c.8570T>A (p.Leu2857Gln) single nucleotide variant not provided [RCV000442703] Chr11:118504462 [GRCh38]
Chr11:118375177 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.2982_2984del (p.Ser997del) deletion not provided [RCV000421336] Chr11:118474140..118474142 [GRCh38]
Chr11:118344855..118344857 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.6521C>T (p.Thr2174Ile) single nucleotide variant not provided [RCV000426841] Chr11:118502413 [GRCh38]
Chr11:118373128 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.4504C>T (p.Arg1502Ter) single nucleotide variant Inborn genetic diseases [RCV000623801]|not provided [RCV000429808] Chr11:118489816 [GRCh38]
Chr11:118360531 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.10474G>A (p.Ala3492Thr) single nucleotide variant not provided [RCV000431362] Chr11:118506366 [GRCh38]
Chr11:118377081 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.11230C>T (p.Arg3744Ter) single nucleotide variant not provided [RCV000432546] Chr11:118519701 [GRCh38]
Chr11:118390416 [GRCh37]
Chr11:11q23.3		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_001197104.2(KMT2A):c.2618G>A (p.Ser873Asn) single nucleotide variant Wiedemann-Steiner syndrome [RCV000436735] Chr11:118473777 [GRCh38]
Chr11:118344492 [GRCh37]
Chr11:11q23.3		 uncertain significance
GRCh37/hg19 11q23.3-25(chr11:116684163-134938470)x3 copy number gain See cases [RCV000447848] Chr11:116684163..134938470 [GRCh37]
Chr11:11q23.3-25		 pathogenic
NM_001197104.2(KMT2A):c.4696+1G>A single nucleotide variant Wiedemann-Steiner syndrome [RCV000417093] Chr11:118490250 [GRCh38]
Chr11:118360965 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.6002_6005del (p.Phe2001fs) deletion Wiedemann-Steiner syndrome [RCV000417101] Chr11:118499340..118499343 [GRCh38]
Chr11:118370055..118370058 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.6080G>A (p.Gly2027Glu) single nucleotide variant Wiedemann-Steiner syndrome [RCV000417110] Chr11:118499835 [GRCh38]
Chr11:118370550 [GRCh37]
Chr11:11q23.3		 likely pathogenic
NM_001197104.2(KMT2A):c.1642A>G (p.Thr548Ala) single nucleotide variant Wiedemann-Steiner syndrome [RCV000417113]|not provided [RCV002521499] Chr11:118472801 [GRCh38]
Chr11:118343516 [GRCh37]
Chr11:11q23.3		 likely benign|uncertain significance
NM_001197104.2(KMT2A):c.3569+3A>C single nucleotide variant not provided [RCV000481184] Chr11:118478204 [GRCh38]
Chr11:118348919 [GRCh37]
Chr11:11q23.3		 likely pathogenic
NM_001197104.2(KMT2A):c.5116del (p.Gln1706fs) deletion not provided [RCV000481855] Chr11:118493168 [GRCh38]
Chr11:118363883 [GRCh37]
Chr11:11q23.3		 pathogenic|likely pathogenic
NM_001197104.2(KMT2A):c.4706_4707insAAACTCTCTG (p.Cys1569Ter) insertion not provided [RCV000482022] Chr11:118491201..118491202 [GRCh38]
Chr11:118361916..118361917 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.2348_2349del (p.Ser783fs) deletion Wiedemann-Steiner syndrome [RCV003483632]|not provided [RCV000482954] Chr11:118473506..118473507 [GRCh38]
Chr11:118344221..118344222 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.4433del (p.Arg1478fs) deletion not provided [RCV000483122] Chr11:118488714 [GRCh38]
Chr11:118359429 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.6764C>A (p.Ser2255Ter) single nucleotide variant not provided [RCV000484940] Chr11:118502656 [GRCh38]
Chr11:118373371 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.2719C>T (p.Pro907Ser) single nucleotide variant not provided [RCV000485143] Chr11:118473878 [GRCh38]
Chr11:118344593 [GRCh37]
Chr11:11q23.3		 likely pathogenic|conflicting interpretations of pathogenicity
NM_001197104.2(KMT2A):c.10139C>G (p.Ser3380Ter) single nucleotide variant not provided [RCV000485152] Chr11:118506031 [GRCh38]
Chr11:118376746 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.5621dup (p.Gln1875fs) duplication Wiedemann-Steiner syndrome [RCV000856786]|not provided [RCV000485200] Chr11:118496323..118496324 [GRCh38]
Chr11:118367038..118367039 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.5351A>G (p.Lys1784Arg) single nucleotide variant not provided [RCV000486341] Chr11:118494755 [GRCh38]
Chr11:118365470 [GRCh37]
Chr11:11q23.3		 likely pathogenic
NM_001197104.2(KMT2A):c.3460C>T (p.Arg1154Trp) single nucleotide variant Wiedemann-Steiner syndrome [RCV001007914]|not provided [RCV000498743] Chr11:118478092 [GRCh38]
Chr11:118348807 [GRCh37]
Chr11:11q23.3		 pathogenic|likely pathogenic
NM_001197104.2(KMT2A):c.8543T>C (p.Leu2848Pro) single nucleotide variant Wiedemann-Steiner syndrome [RCV000501129] Chr11:118504435 [GRCh38]
Chr11:118375150 [GRCh37]
Chr11:11q23.3		 likely pathogenic
NM_001197104.2(KMT2A):c.3473G>A (p.Cys1158Tyr) single nucleotide variant Wiedemann-Steiner syndrome [RCV000501260] Chr11:118478105 [GRCh38]
Chr11:118348820 [GRCh37]
Chr11:11q23.3		 pathogenic|likely pathogenic
NM_001197104.2(KMT2A):c.3334+1G>A single nucleotide variant Wiedemann-Steiner syndrome [RCV000496312] Chr11:118476983 [GRCh38]
Chr11:118347698 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.10178T>C (p.Leu3393Pro) single nucleotide variant not specified [RCV000504172] Chr11:118506070 [GRCh38]
Chr11:118376785 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.6158+6T>C single nucleotide variant Wiedemann-Steiner syndrome [RCV000502079] Chr11:118499919 [GRCh38]
Chr11:118370634 [GRCh37]
Chr11:11q23.3		 likely pathogenic
NM_001197104.2(KMT2A):c.9769T>C (p.Leu3257=) single nucleotide variant not provided [RCV002060122]|not specified [RCV000502207] Chr11:118505661 [GRCh38]
Chr11:118376376 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.3557A>C (p.Lys1186Thr) single nucleotide variant not provided [RCV000498024] Chr11:118478189 [GRCh38]
Chr11:118348904 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.3190C>T (p.Arg1064Ter) single nucleotide variant Wiedemann-Steiner syndrome [RCV002250645]|not provided [RCV000498571] Chr11:118476838 [GRCh38]
Chr11:118347553 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.3461G>A (p.Arg1154Gln) single nucleotide variant Inborn genetic diseases [RCV000623546]|Wiedemann-Steiner syndrome [RCV002248724]|not provided [RCV000493579]|not specified [RCV000504302] Chr11:118478093 [GRCh38]
Chr11:118348808 [GRCh37]
Chr11:11q23.3		 pathogenic|uncertain significance
NM_001197104.2(KMT2A):c.602_603insT (p.Lys201fs) insertion Wiedemann-Steiner syndrome [RCV000508661] Chr11:118471761..118471762 [GRCh38]
Chr11:118342476..118342477 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.3558_3559delinsTT (p.Lys1186_Gln1187delinsAsnTer) indel not provided [RCV000493876] Chr11:118478190..118478191 [GRCh38]
Chr11:118348905..118348906 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.4367A>G (p.His1456Arg) single nucleotide variant Wiedemann-Steiner syndrome [RCV000988751]|not provided [RCV000493938] Chr11:118488648 [GRCh38]
Chr11:118359363 [GRCh37]
Chr11:11q23.3		 likely pathogenic
NM_001197104.2(KMT2A):c.11147-2A>G single nucleotide variant not provided [RCV000494208] Chr11:118519616 [GRCh38]
Chr11:118390331 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.4301G>C (p.Cys1434Ser) single nucleotide variant not provided [RCV000494273] Chr11:118484944 [GRCh38]
Chr11:118355659 [GRCh37]
Chr11:11q23.3		 likely pathogenic
NM_001197104.2(KMT2A):c.3473G>C (p.Cys1158Ser) single nucleotide variant not provided [RCV000494667] Chr11:118478105 [GRCh38]
Chr11:118348820 [GRCh37]
Chr11:11q23.3		 pathogenic
GRCh37/hg19 11q23.3(chr11:118375009-118434226)x3 copy number gain See cases [RCV000511527] Chr11:118375009..118434226 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.139G>C (p.Gly47Arg) single nucleotide variant not provided [RCV000492805] Chr11:118436651 [GRCh38]
Chr11:118307366 [GRCh37]
Chr11:11q23.3		 likely pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470) copy number gain See cases [RCV000511729] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
NM_001197104.2(KMT2A):c.8149del (p.Ile2717fs) deletion Wiedemann-Steiner syndrome [RCV000495988] Chr11:118504037 [GRCh38]
Chr11:118374752 [GRCh37]
Chr11:11q23.3		 pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3 copy number gain See cases [RCV000510881] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
NM_001197104.2(KMT2A):c.3451C>T (p.Arg1151Ter) single nucleotide variant Inborn genetic diseases [RCV000624019]|Wiedemann-Steiner syndrome [RCV001836647]|not provided [RCV001389749] Chr11:118478083 [GRCh38]
Chr11:118348798 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.3634+2T>C single nucleotide variant not provided [RCV000579052] Chr11:118480240 [GRCh38]
Chr11:118350955 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.6571C>T (p.Arg2191Ter) single nucleotide variant See cases [RCV002252182]|not provided [RCV000627376] Chr11:118502463 [GRCh38]
Chr11:118373178 [GRCh37]
Chr11:11q23.3		 pathogenic|likely pathogenic
NM_001197104.2(KMT2A):c.7150C>T (p.Gln2384Ter) single nucleotide variant Inborn genetic diseases [RCV000623114] Chr11:118503042 [GRCh38]
Chr11:118373757 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.2318del (p.Pro773fs) deletion Inborn genetic diseases [RCV000623630]|Wiedemann-Steiner syndrome [RCV002250672]|not provided [RCV003727786] Chr11:118473471 [GRCh38]
Chr11:118344186 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.4643_4644insACTCCAGGCAAAGG (p.Trp1549fs) insertion Wiedemann-Steiner syndrome [RCV003307367] Chr11:118490196..118490197 [GRCh38]
Chr11:118360911..118360912 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.10850T>C (p.Leu3617Pro) single nucleotide variant Inborn genetic diseases [RCV002527435]|KMT2A-related condition [RCV003935355]|not provided [RCV000514461] Chr11:118509150 [GRCh38]
Chr11:118379865 [GRCh37]
Chr11:11q23.3		 benign|likely benign
NM_001197104.2(KMT2A):c.2726G>A (p.Gly909Asp) single nucleotide variant KMT2A-related condition [RCV003942671]|not provided [RCV000514160] Chr11:118473885 [GRCh38]
Chr11:118344600 [GRCh37]
Chr11:11q23.3		 benign|likely benign
NM_001197104.2(KMT2A):c.208A>G (p.Ser70Gly) single nucleotide variant Inborn genetic diseases [RCV003288801] Chr11:118436720 [GRCh38]
Chr11:118307435 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.7497del (p.Val2500fs) deletion Inborn genetic diseases [RCV000624286] Chr11:118503389 [GRCh38]
Chr11:118374104 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.7097A>C (p.Glu2366Ala) single nucleotide variant Inborn genetic diseases [RCV000624725] Chr11:118502989 [GRCh38]
Chr11:118373704 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.11530dup (p.Arg3844fs) duplication Inborn genetic diseases [RCV000622469] Chr11:118521302..118521303 [GRCh38]
Chr11:118392017..118392018 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.2068dup (p.Met690fs) duplication not provided [RCV000524067] Chr11:118473226..118473227 [GRCh38]
Chr11:118343941..118343942 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.9478T>C (p.Ser3160Pro) single nucleotide variant not specified [RCV000610418] Chr11:118505370 [GRCh38]
Chr11:118376085 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.7453G>C (p.Val2485Leu) single nucleotide variant Inborn genetic diseases [RCV003244176]|not provided [RCV003720816] Chr11:118503345 [GRCh38]
Chr11:118374060 [GRCh37]
Chr11:11q23.3		 likely benign|uncertain significance
NM_001197104.2(KMT2A):c.11110C>T (p.Arg3704Ter) single nucleotide variant Wiedemann-Steiner syndrome [RCV001270411]|not provided [RCV000627271] Chr11:118511989 [GRCh38]
Chr11:118382704 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.9684del (p.Leu3229fs) deletion Wiedemann-Steiner syndrome [RCV003315127] Chr11:118505576 [GRCh38]
Chr11:118376291 [GRCh37]
Chr11:11q23.3		 likely pathogenic
NM_001197104.2(KMT2A):c.3337A>T (p.Lys1113Ter) single nucleotide variant Wiedemann-Steiner syndrome [RCV003318322] Chr11:118477969 [GRCh38]
Chr11:118348684 [GRCh37]
Chr11:11q23.3		 pathogenic
GRCh37/hg19 11q23.3-25(chr11:116681007-134938470)x3 copy number gain See cases [RCV000512291] Chr11:116681007..134938470 [GRCh37]
Chr11:11q23.3-25		 pathogenic
NM_001197104.2(KMT2A):c.5005-2A>G single nucleotide variant not provided [RCV000656264] Chr11:118493055 [GRCh38]
Chr11:118363770 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.11317C>T (p.Leu3773Phe) single nucleotide variant not provided [RCV000515079] Chr11:118519788 [GRCh38]
Chr11:118390503 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.6767G>A (p.Ser2256Asn) single nucleotide variant not provided [RCV000513013] Chr11:118502659 [GRCh38]
Chr11:118373374 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.1522G>T (p.Glu508Ter) single nucleotide variant Inborn genetic diseases [RCV000622491] Chr11:118472681 [GRCh38]
Chr11:118343396 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.2322_2323del (p.Ser775fs) deletion not provided [RCV000584873] Chr11:118473481..118473482 [GRCh38]
Chr11:118344196..118344197 [GRCh37]
Chr11:11q23.3		 likely pathogenic
NM_001197104.2(KMT2A):c.7187_7191dup (p.Glu2398fs) duplication Inborn genetic diseases [RCV000623008] Chr11:118503078..118503079 [GRCh38]
Chr11:118373793..118373794 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.8965G>A (p.Glu2989Lys) single nucleotide variant not provided [RCV000513301] Chr11:118504857 [GRCh38]
Chr11:118375572 [GRCh37]
Chr11:11q23.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001197104.2(KMT2A):c.3790C>T (p.Arg1264Ter) single nucleotide variant Hirsutism [RCV001261359]|Inborn genetic diseases [RCV000622624]|Rare genetic intellectual disability [RCV001256980]|Wiedemann-Steiner syndrome [RCV003987627]|not provided [RCV000760554] Chr11:118481870 [GRCh38]
Chr11:118352585 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.134del (p.Pro45fs) deletion Inborn genetic diseases [RCV000622749] Chr11:118436642 [GRCh38]
Chr11:118307357 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.11280del (p.Pro3760_Leu3761insTer) deletion Inborn genetic diseases [RCV000623990]|Wiedemann-Steiner syndrome [RCV002293245] Chr11:118519746 [GRCh38]
Chr11:118390461 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.9112_9115del (p.Val3038fs) deletion Inborn genetic diseases [RCV000624310] Chr11:118505003..118505006 [GRCh38]
Chr11:118375718..118375721 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.240C>G (p.Ala80=) single nucleotide variant not provided [RCV003690681] Chr11:118436752 [GRCh38]
Chr11:118307467 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.2683A>T (p.Lys895Ter) single nucleotide variant Wiedemann-Steiner syndrome [RCV003487108] Chr11:118473842 [GRCh38]
Chr11:118344557 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.2319dup (p.Ser774fs) duplication not provided [RCV000657523] Chr11:118473477..118473478 [GRCh38]
Chr11:118344192..118344193 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.7598A>C (p.Glu2533Ala) single nucleotide variant not provided [RCV000658626] Chr11:118503490 [GRCh38]
Chr11:118374205 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.1433G>A (p.Arg478Gln) single nucleotide variant Wiedemann-Steiner syndrome [RCV000680022] Chr11:118472592 [GRCh38]
Chr11:118343307 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.5630C>T (p.Ala1877Val) single nucleotide variant Intellectual disability [RCV000681496] Chr11:118496333 [GRCh38]
Chr11:118367048 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.8270dup (p.Ile2758fs) duplication Wiedemann-Steiner syndrome [RCV000681501] Chr11:118504159..118504160 [GRCh38]
Chr11:118374874..118374875 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.766dup (p.Ile256fs) duplication Intellectual disability [RCV000678480] Chr11:118471918..118471919 [GRCh38]
Chr11:118342633..118342634 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.11031del (p.Ser3678fs) deletion Wiedemann-Steiner syndrome [RCV000681512] Chr11:118510077 [GRCh38]
Chr11:118380792 [GRCh37]
Chr11:11q23.3		 pathogenic
GRCh37/hg19 11q23.3(chr11:116669751-120979377)x3 copy number gain not provided [RCV000683365] Chr11:116669751..120979377 [GRCh37]
Chr11:11q23.3		 likely pathogenic
GRCh37/hg19 11q23.3-25(chr11:116681007-134938470)x3 copy number gain not provided [RCV000683373] Chr11:116681007..134938470 [GRCh37]
Chr11:11q23.3-25		 pathogenic
GRCh37/hg19 11q23.3(chr11:118374527-118425419)x3 copy number gain not provided [RCV000845622] Chr11:118374527..118425419 [GRCh37]
Chr11:11q23.3		 uncertain significance
t(11;17)(q23;q25) translocation Acute megakaryoblastic leukemia [RCV000721127] Chr11:118482092..118482093 [GRCh38]
Chr17:77402059..77402060 [GRCh38]
Chr11:11q23.3
Chr17:17q25.3		 pathogenic
NM_001197104.2(KMT2A):c.685C>A (p.Pro229Thr) single nucleotide variant not provided [RCV001566312] Chr11:118471844 [GRCh38]
Chr11:118342559 [GRCh37]
Chr11:11q23.3		 likely benign|conflicting interpretations of pathogenicity
NC_000011.10:g.118436165C>T single nucleotide variant not provided [RCV001567693] Chr11:118436165 [GRCh38]
Chr11:118306880 [GRCh37]
Chr11:11q23.3		 likely benign
GRCh37/hg19 11p15.5-q25(chr11:198510-134934063)x3 copy number gain not provided [RCV000737348] Chr11:198510..134934063 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
GRCh37/hg19 11p15.5-q25(chr11:70864-134938470)x3 copy number gain not provided [RCV000749874] Chr11:70864..134938470 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
GRCh37/hg19 11q23.3-25(chr11:116697066-134934063)x3 copy number gain not provided [RCV000737686] Chr11:116697066..134934063 [GRCh37]
Chr11:11q23.3-25		 pathogenic
GRCh37/hg19 11q23.3(chr11:118311410-118315039)x3 copy number gain not provided [RCV000737690] Chr11:118311410..118315039 [GRCh37]
Chr11:11q23.3		 benign
NM_001197104.2(KMT2A):c.4333-2A>G single nucleotide variant Wiedemann-Steiner syndrome [RCV001591701] Chr11:118488612 [GRCh38]
Chr11:118359327 [GRCh37]
Chr11:11q23.3		 likely pathogenic
NM_001197104.2(KMT2A):c.69G>A (p.Gly23=) single nucleotide variant not provided [RCV000895878] Chr11:118436581 [GRCh38]
Chr11:118307296 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.4219-25C>T single nucleotide variant not provided [RCV001678938] Chr11:118484837 [GRCh38]
Chr11:118355552 [GRCh37]
Chr11:11q23.3		 benign
NM_001197104.2(KMT2A):c.11592C>T (p.Asn3864=) single nucleotide variant KMT2A-related condition [RCV003975656]|not provided [RCV000893793] Chr11:118521366 [GRCh38]
Chr11:118392081 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.5961+72A>G single nucleotide variant not provided [RCV001533810] Chr11:118498600 [GRCh38]
Chr11:118369315 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.3569+295C>T single nucleotide variant not provided [RCV001534190] Chr11:118478496 [GRCh38]
Chr11:118349211 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.3613T>C (p.Tyr1205His) single nucleotide variant not provided [RCV000894767] Chr11:118480217 [GRCh38]
Chr11:118350932 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.10836-46T>C single nucleotide variant not provided [RCV001725421] Chr11:118509090 [GRCh38]
Chr11:118379805 [GRCh37]
Chr11:11q23.3		 benign
NM_001197104.2(KMT2A):c.2841T>C (p.Ser947=) single nucleotide variant not provided [RCV000936364] Chr11:118474000 [GRCh38]
Chr11:118344715 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.2405C>G (p.Ser802Cys) single nucleotide variant Wiedemann-Steiner syndrome [RCV001591669]|not provided [RCV002571153] Chr11:118473564 [GRCh38]
Chr11:118344279 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.3034C>T (p.Gln1012Ter) single nucleotide variant Wiedemann-Steiner syndrome [RCV003985094]|not provided [RCV000760944] Chr11:118474193 [GRCh38]
Chr11:118344908 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.3740_3741del (p.Ser1247fs) deletion Wiedemann-Steiner syndrome [RCV000760208] Chr11:118481820..118481821 [GRCh38]
Chr11:118352535..118352536 [GRCh37]
Chr11:11q23.3		 likely pathogenic
NM_001197104.2(KMT2A):c.3247C>T (p.Arg1083Ter) single nucleotide variant not provided [RCV000760479] Chr11:118476895 [GRCh38]
Chr11:118347610 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.4988T>A (p.Leu1663Ter) single nucleotide variant not provided [RCV000760538] Chr11:118491912 [GRCh38]
Chr11:118362627 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.517C>T (p.Arg173Ter) single nucleotide variant Wiedemann-Steiner syndrome [RCV002274098]|not provided [RCV000760622] Chr11:118471676 [GRCh38]
Chr11:118342391 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.*155C>T single nucleotide variant not provided [RCV001571235] Chr11:118522327 [GRCh38]
Chr11:118393042 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.9948G>A (p.Ala3316=) single nucleotide variant not provided [RCV000994736] Chr11:118505840 [GRCh38]
Chr11:118376555 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.11464C>T (p.Arg3822Cys) single nucleotide variant not provided [RCV000994737] Chr11:118520836 [GRCh38]
Chr11:118391551 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.7255G>A (p.Glu2419Lys) single nucleotide variant not provided [RCV001571496] Chr11:118503147 [GRCh38]
Chr11:118373862 [GRCh37]
Chr11:11q23.3		 likely benign|conflicting interpretations of pathogenicity
NM_001197104.2(KMT2A):c.7643del (p.Ala2548fs) deletion Wiedemann-Steiner syndrome [RCV000988754] Chr11:118503535 [GRCh38]
Chr11:118374250 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.7082C>T (p.Ser2361Leu) single nucleotide variant not provided [RCV001565249] Chr11:118502974 [GRCh38]
Chr11:118373689 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.5005-203C>T single nucleotide variant not provided [RCV001551246] Chr11:118492854 [GRCh38]
Chr11:118363569 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.11430-142A>G single nucleotide variant not provided [RCV001641514] Chr11:118520660 [GRCh38]
Chr11:118391375 [GRCh37]
Chr11:11q23.3		 benign
NM_001197104.2(KMT2A):c.10900+26A>G single nucleotide variant not provided [RCV001691715] Chr11:118509226 [GRCh38]
Chr11:118379941 [GRCh37]
Chr11:11q23.3		 benign
NM_001197104.2(KMT2A):c.975_977del (p.Lys326del) deletion not provided [RCV001551939] Chr11:118472133..118472135 [GRCh38]
Chr11:118342848..118342850 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.11071+236C>T single nucleotide variant not provided [RCV001680942] Chr11:118510354 [GRCh38]
Chr11:118381069 [GRCh37]
Chr11:11q23.3		 benign
NM_001197104.2(KMT2A):c.8414_8418del (p.Ser2805fs) microsatellite Wiedemann-Steiner syndrome [RCV001007908] Chr11:118504295..118504299 [GRCh38]
Chr11:118375010..118375014 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.7070C>G (p.Pro2357Arg) single nucleotide variant not provided [RCV001725416] Chr11:118502962 [GRCh38]
Chr11:118373677 [GRCh37]
Chr11:11q23.3		 benign|likely benign
NM_001197104.2(KMT2A):c.5364-96T>C single nucleotide variant not provided [RCV001583949] Chr11:118495604 [GRCh38]
Chr11:118366319 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.227G>C (p.Gly76Ala) single nucleotide variant not provided [RCV001690823] Chr11:118436739 [GRCh38]
Chr11:118307454 [GRCh37]
Chr11:11q23.3		 benign
NM_001197104.2(KMT2A):c.4761A>G (p.Gln1587=) single nucleotide variant not provided [RCV000899176] Chr11:118491260 [GRCh38]
Chr11:118361975 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.6243C>T (p.Val2081=) single nucleotide variant not provided [RCV000967242] Chr11:118501071 [GRCh38]
Chr11:118371786 [GRCh37]
Chr11:11q23.3		 benign
NM_001197104.2(KMT2A):c.3635-7C>T single nucleotide variant Wiedemann-Steiner syndrome [RCV002495457]|not provided [RCV000902421] Chr11:118481708 [GRCh38]
Chr11:118352423 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.1519C>G (p.Pro507Ala) single nucleotide variant not provided [RCV000901665] Chr11:118472678 [GRCh38]
Chr11:118343393 [GRCh37]
Chr11:11q23.3		 likely benign|conflicting interpretations of pathogenicity
NM_001197104.2(KMT2A):c.11853T>C (p.Ile3951=) single nucleotide variant not provided [RCV000914126] Chr11:118522106 [GRCh38]
Chr11:118392821 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.8307T>C (p.His2769=) single nucleotide variant not provided [RCV000900768] Chr11:118504199 [GRCh38]
Chr11:118374914 [GRCh37]
Chr11:11q23.3		 benign|likely benign
NM_001197104.2(KMT2A):c.11505T>G (p.Gly3835=) single nucleotide variant not provided [RCV000880049] Chr11:118520877 [GRCh38]
Chr11:118391592 [GRCh37]
Chr11:11q23.3		 benign|likely benign
NM_001197104.2(KMT2A):c.6942G>A (p.Leu2314=) single nucleotide variant not provided [RCV000975376] Chr11:118502834 [GRCh38]
Chr11:118373549 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.10746A>T (p.Ser3582=) single nucleotide variant KMT2A-related condition [RCV003923038]|not provided [RCV000904410] Chr11:118506638 [GRCh38]
Chr11:118377353 [GRCh37]
Chr11:11q23.3		 benign|likely benign
NM_001197104.2(KMT2A):c.3684C>T (p.Ser1228=) single nucleotide variant not provided [RCV000921950] Chr11:118481764 [GRCh38]
Chr11:118352479 [GRCh37]
Chr11:11q23.3		 benign|likely benign
NM_001197104.2(KMT2A):c.3569+10T>C single nucleotide variant not provided [RCV000926839] Chr11:118478211 [GRCh38]
Chr11:118348926 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.6410G>T (p.Cys2137Phe) single nucleotide variant not provided [RCV000898885] Chr11:118501762 [GRCh38]
Chr11:118372477 [GRCh37]
Chr11:11q23.3		 benign
NM_001197104.2(KMT2A):c.4233A>C (p.Ala1411=) single nucleotide variant not provided [RCV000926011] Chr11:118484876 [GRCh38]
Chr11:118355591 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.5589G>T (p.Glu1863Asp) single nucleotide variant KMT2A-related condition [RCV003970535]|not provided [RCV000925954] Chr11:118496292 [GRCh38]
Chr11:118367007 [GRCh37]
Chr11:11q23.3		 benign|likely benign
NM_001197104.2(KMT2A):c.7689A>G (p.Ser2563=) single nucleotide variant Wiedemann-Steiner syndrome [RCV002489339]|not provided [RCV000959233] Chr11:118503581 [GRCh38]
Chr11:118374296 [GRCh37]
Chr11:11q23.3		 benign|likely benign
NM_001197104.2(KMT2A):c.7914T>C (p.Tyr2638=) single nucleotide variant not provided [RCV000926033] Chr11:118503806 [GRCh38]
Chr11:118374521 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.6492G>A (p.Pro2164=) single nucleotide variant not provided [RCV000905209] Chr11:118501844 [GRCh38]
Chr11:118372559 [GRCh37]
Chr11:11q23.3		 benign|likely benign
NM_001197104.2(KMT2A):c.6090A>C (p.Thr2030=) single nucleotide variant not provided [RCV000879322] Chr11:118499845 [GRCh38]
Chr11:118370560 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.8976G>A (p.Met2992Ile) single nucleotide variant not provided [RCV000905265] Chr11:118504868 [GRCh38]
Chr11:118375583 [GRCh37]
Chr11:11q23.3		 benign|conflicting interpretations of pathogenicity
NM_001197104.2(KMT2A):c.6685T>A (p.Ser2229Thr) single nucleotide variant not provided [RCV000904232] Chr11:118502577 [GRCh38]
Chr11:118373292 [GRCh37]
Chr11:11q23.3		 benign|likely benign
NM_001197104.2(KMT2A):c.7635T>C (p.Ser2545=) single nucleotide variant not provided [RCV000898258] Chr11:118503527 [GRCh38]
Chr11:118374242 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.10875T>C (p.Asn3625=) single nucleotide variant not provided [RCV000904411] Chr11:118509175 [GRCh38]
Chr11:118379890 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.11147-5_11147-3del microsatellite KMT2A-related condition [RCV003923058]|not provided [RCV000905301] Chr11:118519609..118519611 [GRCh38]
Chr11:118390324..118390326 [GRCh37]
Chr11:11q23.3		 benign|likely benign
NM_001197104.2(KMT2A):c.4254A>T (p.Gly1418=) single nucleotide variant KMT2A-related condition [RCV003925899]|not provided [RCV000948877] Chr11:118484897 [GRCh38]
Chr11:118355612 [GRCh37]
Chr11:11q23.3		 benign|likely benign
NM_001197104.2(KMT2A):c.6693C>T (p.Ser2231=) single nucleotide variant not provided [RCV000920895] Chr11:118502585 [GRCh38]
Chr11:118373300 [GRCh37]
Chr11:11q23.3		 benign
NM_001197104.2(KMT2A):c.2943A>G (p.Pro981=) single nucleotide variant KMT2A-related condition [RCV003975742]|not provided [RCV000902108] Chr11:118474102 [GRCh38]
Chr11:118344817 [GRCh37]
Chr11:11q23.3		 benign|likely benign
NM_001197104.2(KMT2A):c.5733G>A (p.Ala1911=) single nucleotide variant KMT2A-related condition [RCV003950592]|not provided [RCV000902109] Chr11:118498004 [GRCh38]
Chr11:118368719 [GRCh37]
Chr11:11q23.3		 benign|likely benign
NM_001197104.2(KMT2A):c.10092C>T (p.His3364=) single nucleotide variant not provided [RCV000973251] Chr11:118505984 [GRCh38]
Chr11:118376699 [GRCh37]
Chr11:11q23.3		 benign|likely benign
NM_001197104.2(KMT2A):c.6957A>G (p.Ser2319=) single nucleotide variant not provided [RCV000982175] Chr11:118502849 [GRCh38]
Chr11:118373564 [GRCh37]
Chr11:11q23.3		 benign|likely benign
NM_001197104.2(KMT2A):c.6159-8T>C single nucleotide variant KMT2A-related condition [RCV003958083]|not provided [RCV000897796] Chr11:118500979 [GRCh38]
Chr11:118371694 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.6342A>G (p.Gln2114=) single nucleotide variant not provided [RCV000922390] Chr11:118501694 [GRCh38]
Chr11:118372409 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.1974C>T (p.Pro658=) single nucleotide variant not provided [RCV000903150] Chr11:118473133 [GRCh38]
Chr11:118343848 [GRCh37]
Chr11:11q23.3		 benign
NM_001197104.2(KMT2A):c.4889G>A (p.Arg1630Gln) single nucleotide variant KMT2A-related condition [RCV003910701]|not provided [RCV000897923] Chr11:118491813 [GRCh38]
Chr11:118362528 [GRCh37]
Chr11:11q23.3		 benign|likely benign
NM_001197104.2(KMT2A):c.7304C>G (p.Ser2435Cys) single nucleotide variant KMT2A-related condition [RCV003906019]|not provided [RCV000971581] Chr11:118503196 [GRCh38]
Chr11:118373911 [GRCh37]
Chr11:11q23.3		 benign|likely benign
NM_001197104.2(KMT2A):c.11147-9T>A single nucleotide variant not provided [RCV000951299] Chr11:118519609 [GRCh38]
Chr11:118390324 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.1822C>T (p.Arg608Ter) single nucleotide variant not provided [RCV001063493] Chr11:118472981 [GRCh38]
Chr11:118343696 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.3157-7_3161del deletion Wiedemann-Steiner syndrome [RCV000995569] Chr11:118476795..118476806 [GRCh38]
Chr11:118347510..118347521 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.1844del (p.Pro615fs) deletion Wiedemann-Steiner syndrome [RCV000995797] Chr11:118473002 [GRCh38]
Chr11:118343717 [GRCh37]
Chr11:11q23.3		 pathogenic
NC_000011.9:g.(?_117856768)_(118972385_?)dup duplication Glucose-6-phosphate transport defect [RCV001031254]|Immunodeficiency 18 [RCV001338286] Chr11:117856768..118972385 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.10318A>G (p.Ile3440Val) single nucleotide variant not provided [RCV000949781] Chr11:118506210 [GRCh38]
Chr11:118376925 [GRCh37]
Chr11:11q23.3		 benign|likely benign
NM_001197104.2(KMT2A):c.11496G>C (p.Glu3832Asp) single nucleotide variant not provided [RCV000906670] Chr11:118520868 [GRCh38]
Chr11:118391583 [GRCh37]
Chr11:11q23.3		 benign
NM_001197104.2(KMT2A):c.6571C>A (p.Arg2191=) single nucleotide variant not provided [RCV000906697] Chr11:118502463 [GRCh38]
Chr11:118373178 [GRCh37]
Chr11:11q23.3		 likely benign|conflicting interpretations of pathogenicity
NM_001197104.2(KMT2A):c.1341G>A (p.Pro447=) single nucleotide variant not provided [RCV000902991] Chr11:118472500 [GRCh38]
Chr11:118343215 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.6516C>G (p.Thr2172=) single nucleotide variant KMT2A-related condition [RCV003895663]|not provided [RCV000930932] Chr11:118502408 [GRCh38]
Chr11:118373123 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.2965C>T (p.Leu989Phe) single nucleotide variant KMT2A-related condition [RCV003950444]|not provided [RCV000894699]|not specified [RCV001818698] Chr11:118474124 [GRCh38]
Chr11:118344839 [GRCh37]
Chr11:11q23.3		 benign|likely benign
NM_001197104.2(KMT2A):c.10547G>A (p.Gly3516Glu) single nucleotide variant KMT2A-related condition [RCV003913045]|not provided [RCV000914393] Chr11:118506439 [GRCh38]
Chr11:118377154 [GRCh37]
Chr11:11q23.3		 benign|likely benign
NM_001197104.2(KMT2A):c.8457C>T (p.Ser2819=) single nucleotide variant not provided [RCV000918673] Chr11:118504349 [GRCh38]
Chr11:118375064 [GRCh37]
Chr11:11q23.3		 benign
NM_001197104.2(KMT2A):c.6505+4A>G single nucleotide variant not provided [RCV000917507] Chr11:118501861 [GRCh38]
Chr11:118372576 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.6506-8_6506-7del deletion not provided [RCV000917508] Chr11:118502390..118502391 [GRCh38]
Chr11:118373105..118373106 [GRCh37]
Chr11:11q23.3		 benign
NM_001197104.2(KMT2A):c.9373T>C (p.Leu3125=) single nucleotide variant not provided [RCV000895879] Chr11:118505265 [GRCh38]
Chr11:118375980 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.5004+7C>T single nucleotide variant not provided [RCV000982417] Chr11:118491935 [GRCh38]
Chr11:118362650 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.4816G>C (p.Glu1606Gln) single nucleotide variant Esophageal atresia [RCV000984747] Chr11:118491315 [GRCh38]
Chr11:118362030 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.10746A>C (p.Ser3582=) single nucleotide variant not provided [RCV000919063] Chr11:118506638 [GRCh38]
Chr11:118377353 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.9165T>C (p.Asp3055=) single nucleotide variant KMT2A-related condition [RCV003968245]|not provided [RCV000900583] Chr11:118505057 [GRCh38]
Chr11:118375772 [GRCh37]
Chr11:11q23.3		 benign|likely benign
NM_001197104.2(KMT2A):c.6185C>T (p.Thr2062Ile) single nucleotide variant KMT2A-related condition [RCV003910792]|not provided [RCV000903536] Chr11:118501013 [GRCh38]
Chr11:118371728 [GRCh37]
Chr11:11q23.3		 benign|likely benign
NM_001197104.2(KMT2A):c.10396A>G (p.Thr3466Ala) single nucleotide variant KMT2A-related condition [RCV003955876]|not provided [RCV000884586] Chr11:118506288 [GRCh38]
Chr11:118377003 [GRCh37]
Chr11:11q23.3		 benign
NM_001197104.2(KMT2A):c.11493G>C (p.Lys3831Asn) single nucleotide variant not provided [RCV000906655] Chr11:118520865 [GRCh38]
Chr11:118391580 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.9326_9330del (p.Ser3109fs) deletion Wiedemann-Steiner syndrome [RCV003314174] Chr11:118505216..118505220 [GRCh38]
Chr11:118375931..118375935 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.10376del (p.Asn3459fs) deletion Wiedemann-Steiner syndrome [RCV000856728] Chr11:118506267 [GRCh38]
Chr11:118376982 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.171C>A (p.Pro57=) single nucleotide variant not provided [RCV000975946] Chr11:118436683 [GRCh38]
Chr11:118307398 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.4906C>T (p.Arg1636Ter) single nucleotide variant Wiedemann-Steiner syndrome [RCV000824819]|not provided [RCV002223959] Chr11:118491830 [GRCh38]
Chr11:118362545 [GRCh37]
Chr11:11q23.3		 pathogenic|likely pathogenic
NM_001197104.2(KMT2A):c.3974G>A (p.Ser1325Asn) single nucleotide variant KMT2A-related condition [RCV003902937]|not provided [RCV000914750] Chr11:118482054 [GRCh38]
Chr11:118352769 [GRCh37]
Chr11:11q23.3		 benign|likely benign
NM_001197104.2(KMT2A):c.8183_8186del (p.Glu2728fs) microsatellite Wiedemann-Steiner syndrome [RCV000824862] Chr11:118504073..118504076 [GRCh38]
Chr11:118374788..118374791 [GRCh37]
Chr11:11q23.3		 likely pathogenic
GRCh37/hg19 11q23.3-25(chr11:117830263-134938470)x3 copy number gain not provided [RCV000848151] Chr11:117830263..134938470 [GRCh37]
Chr11:11q23.3-25		 pathogenic
NM_001197104.2(KMT2A):c.4012+2T>A single nucleotide variant Wiedemann-Steiner syndrome [RCV000850567] Chr11:118482094 [GRCh38]
Chr11:118352809 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.7062T>C (p.Phe2354=) single nucleotide variant not provided [RCV001091042] Chr11:118502954 [GRCh38]
Chr11:118373669 [GRCh37]
Chr11:11q23.3		 likely benign
NC_000011.9:g.(?_118007722)_(119170511_?)del deletion Long QT syndrome 10 [RCV000816632] Chr11:118007722..119170511 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.3497A>C (p.Asp1166Ala) single nucleotide variant not provided [RCV001091039] Chr11:118478129 [GRCh38]
Chr11:118348844 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.5431C>T (p.Arg1811Ter) single nucleotide variant Wiedemann-Steiner syndrome [RCV000988753]|not provided [RCV001541942] Chr11:118495767 [GRCh38]
Chr11:118366482 [GRCh37]
Chr11:11q23.3		 pathogenic|likely pathogenic
NM_001197104.2(KMT2A):c.11513+7C>T single nucleotide variant KMT2A-related condition [RCV003933094]|not provided [RCV000919865] Chr11:118520892 [GRCh38]
Chr11:118391607 [GRCh37]
Chr11:11q23.3		 benign
NM_001197104.2(KMT2A):c.10274C>T (p.Ala3425Val) single nucleotide variant not provided [RCV000897520] Chr11:118506166 [GRCh38]
Chr11:118376881 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.1193A>G (p.Lys398Arg) single nucleotide variant not provided [RCV000982174] Chr11:118472352 [GRCh38]
Chr11:118343067 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.11815C>T (p.Arg3939Ter) single nucleotide variant not provided [RCV000822633] Chr11:118522068 [GRCh38]
Chr11:118392783 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.1938A>G (p.Pro646=) single nucleotide variant not provided [RCV000893792] Chr11:118473097 [GRCh38]
Chr11:118343812 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.441A>G (p.Gln147=) single nucleotide variant not provided [RCV000980408] Chr11:118468783 [GRCh38]
Chr11:118339498 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.5631G>A (p.Ala1877=) single nucleotide variant not provided [RCV000916343] Chr11:118496334 [GRCh38]
Chr11:118367049 [GRCh37]
Chr11:11q23.3		 benign|likely benign
NM_001197104.2(KMT2A):c.1866A>G (p.Leu622=) single nucleotide variant not provided [RCV000976695] Chr11:118473025 [GRCh38]
Chr11:118343740 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.7183T>C (p.Ser2395Pro) single nucleotide variant Inborn genetic diseases [RCV002539442]|KMT2A-related condition [RCV003950467]|not provided [RCV000896078] Chr11:118503075 [GRCh38]
Chr11:118373790 [GRCh37]
Chr11:11q23.3		 benign|likely benign
NM_001197104.2(KMT2A):c.293del (p.Ser97_Ser98insTer) deletion Wiedemann-Steiner syndrome [RCV003315197] Chr11:118436805 [GRCh38]
Chr11:118307520 [GRCh37]
Chr11:11q23.3		 likely pathogenic
NM_001197104.2(KMT2A):c.3794del (p.Lys1265fs) deletion Wiedemann-Steiner syndrome [RCV003315201] Chr11:118481872 [GRCh38]
Chr11:118352587 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.5419C>T (p.Gln1807Ter) single nucleotide variant not provided [RCV001091040] Chr11:118495755 [GRCh38]
Chr11:118366470 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.6305dup (p.Thr2103fs) duplication not provided [RCV001091041] Chr11:118501131..118501132 [GRCh38]
Chr11:118371846..118371847 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.7226_7237delinsTTATG (p.Gly2409fs) indel not provided [RCV001008926] Chr11:118503118..118503129 [GRCh38]
Chr11:118373833..118373844 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.4032del (p.Val1347fs) deletion Wiedemann-Steiner syndrome [RCV000851492] Chr11:118482441 [GRCh38]
Chr11:118353156 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.7124del (p.His2374_Leu2375insTer) deletion not provided [RCV001008722] Chr11:118503014 [GRCh38]
Chr11:118373729 [GRCh37]
Chr11:11q23.3		 pathogenic
GRCh37/hg19 11q23.3(chr11:118280670-119650105)x3 copy number gain not provided [RCV001006451] Chr11:118280670..119650105 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.934_935insC (p.Ile312fs) insertion Wiedemann-Steiner syndrome [RCV001007907] Chr11:118472093..118472094 [GRCh38]
Chr11:118342808..118342809 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.502+1G>A single nucleotide variant Intellectual disability [RCV001526651]|Wiedemann-Steiner syndrome [RCV000988746] Chr11:118468845 [GRCh38]
Chr11:118339560 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.3592C>T (p.Gln1198Ter) single nucleotide variant Wiedemann-Steiner syndrome [RCV000988749] Chr11:118480196 [GRCh38]
Chr11:118350911 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.3680_3683del (p.Asp1227fs) deletion Wiedemann-Steiner syndrome [RCV000988750] Chr11:118481758..118481761 [GRCh38]
Chr11:118352473..118352476 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.10802A>G (p.Gln3601Arg) single nucleotide variant Wiedemann-Steiner syndrome [RCV000988756] Chr11:118507576 [GRCh38]
Chr11:118378291 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.7349del (p.Leu2450fs) deletion not provided [RCV001008918] Chr11:118503236 [GRCh38]
Chr11:118373951 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.9921del (p.Ser3308fs) deletion not provided [RCV001009142] Chr11:118505813 [GRCh38]
Chr11:118376528 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.7926del (p.Tyr2643fs) deletion not provided [RCV001248377] Chr11:118503817 [GRCh38]
Chr11:118374532 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.3455C>A (p.Ser1152Ter) single nucleotide variant Wiedemann-Steiner syndrome [RCV000988748] Chr11:118478087 [GRCh38]
Chr11:118348802 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.4429CGT[1] (p.Arg1478del) microsatellite Wiedemann-Steiner syndrome [RCV000988752]|not provided [RCV002469320] Chr11:118488708..118488710 [GRCh38]
Chr11:118359423..118359425 [GRCh37]
Chr11:11q23.3		 pathogenic|likely pathogenic
NM_001197104.2(KMT2A):c.7899del (p.Thr2635fs) deletion Wiedemann-Steiner syndrome [RCV000988755] Chr11:118503789 [GRCh38]
Chr11:118374504 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.9565delinsGAAGGC (p.Ile3189fs) indel not provided [RCV001008252] Chr11:118505457 [GRCh38]
Chr11:118376172 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.4619C>A (p.Thr1540Asn) single nucleotide variant not provided [RCV003313655] Chr11:118490172 [GRCh38]
Chr11:118360887 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.126del (p.Pro45fs) deletion not provided [RCV003318179] Chr11:118436633 [GRCh38]
Chr11:118307348 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.173dup (p.Ala59fs) duplication Wiedemann-Steiner syndrome [RCV000988745]|not provided [RCV003736952] Chr11:118436678..118436679 [GRCh38]
Chr11:118307393..118307394 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.11785A>C (p.Ile3929Leu) single nucleotide variant Wiedemann-Steiner syndrome [RCV000988757] Chr11:118522038 [GRCh38]
Chr11:118392753 [GRCh37]
Chr11:11q23.3		 likely pathogenic
NM_001197104.2(KMT2A):c.5196dup (p.Ile1733fs) duplication not provided [RCV001008538] Chr11:118494304..118494305 [GRCh38]
Chr11:118365019..118365020 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.10550dup (p.Ser3518fs) duplication not provided [RCV001008555] Chr11:118506437..118506438 [GRCh38]
Chr11:118377152..118377153 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.11587G>A (p.Gly3863Ser) single nucleotide variant Wiedemann-Steiner syndrome [RCV001028099] Chr11:118521361 [GRCh38]
Chr11:118392076 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.8454del (p.Ser2819fs) deletion not provided [RCV001009013] Chr11:118504342 [GRCh38]
Chr11:118375057 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.3178_3184delinsCTAGGCTGCAGTGAGCTGTGACTGTGCCACTGTATTGCAGCCTAGGCAACAAAGCAATC (p.Glu1060_Ser1062delinsLeuGlyCysSerGluLeuTer) indel not provided [RCV001009062] Chr11:118476826..118476832 [GRCh38]
Chr11:118347541..118347547 [GRCh37]
Chr11:11q23.3		 pathogenic
NC_000011.9:g.(?_118359309)_(118359495_?)del deletion not provided [RCV003105652] Chr11:118359309..118359495 [GRCh37]
Chr11:11q23.3		 pathogenic
NC_000011.9:g.(?_118390313)_(118392887_?)dup duplication not provided [RCV003105655] Chr11:118390313..118392887 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.10051del (p.Thr3351fs) deletion Wiedemann-Steiner syndrome [RCV003313758] Chr11:118505941 [GRCh38]
Chr11:118376656 [GRCh37]
Chr11:11q23.3		 pathogenic
NC_000011.9:g.(?_118390313)_(118390799_?)del deletion not provided [RCV003105653] Chr11:118390313..118390799 [GRCh37]
Chr11:11q23.3		 pathogenic
NC_000011.9:g.(?_118339470)_(118353230_?)dup duplication not provided [RCV003105654] Chr11:118339470..118353230 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.10835+1G>A single nucleotide variant Autism spectrum disorder [RCV003128060] Chr11:118507610 [GRCh38]
Chr11:118378325 [GRCh37]
Chr11:11q23.3		 likely pathogenic
NM_001197104.2(KMT2A):c.9575A>C (p.Gln3192Pro) single nucleotide variant Autism spectrum disorder [RCV003128069] Chr11:118505467 [GRCh38]
Chr11:118376182 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.154G>C (p.Gly52Arg) single nucleotide variant Inborn genetic diseases [RCV003273216] Chr11:118436666 [GRCh38]
Chr11:118307381 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.3569+2T>G single nucleotide variant Wiedemann-Steiner syndrome [RCV003128067] Chr11:118478203 [GRCh38]
Chr11:118348918 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.6506-139G>T single nucleotide variant not provided [RCV001571575] Chr11:118502259 [GRCh38]
Chr11:118372974 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.6159-31T>G single nucleotide variant not provided [RCV001550390] Chr11:118500956 [GRCh38]
Chr11:118371671 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.230G>A (p.Gly77Glu) single nucleotide variant not provided [RCV003107010] Chr11:118436742 [GRCh38]
Chr11:118307457 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.5290-81A>G single nucleotide variant not provided [RCV001565979] Chr11:118494613 [GRCh38]
Chr11:118365328 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.10900+143_10900+144dup duplication not provided [RCV001567090] Chr11:118509342..118509343 [GRCh38]
Chr11:118380057..118380058 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.152_186del (p.Pro51fs) deletion KMT2A-related condition [RCV003900790]|Wiedemann-Steiner syndrome [RCV001548758]|not provided [RCV001559985] Chr11:118436655..118436689 [GRCh38]
Chr11:118307370..118307404 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.7319T>A (p.Phe2440Tyr) single nucleotide variant Inborn genetic diseases [RCV003251140]|not provided [RCV003679181] Chr11:118503211 [GRCh38]
Chr11:118373926 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.7373G>A (p.Gly2458Asp) single nucleotide variant not provided [RCV001575099] Chr11:118503265 [GRCh38]
Chr11:118373980 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.11295C>T (p.Gly3765=) single nucleotide variant not provided [RCV001553360] Chr11:118519766 [GRCh38]
Chr11:118390481 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.1509G>C (p.Arg503=) single nucleotide variant KMT2A-related condition [RCV003910880]|not provided [RCV001559998] Chr11:118472668 [GRCh38]
Chr11:118343383 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.9436C>T (p.Gln3146Ter) single nucleotide variant not provided [RCV001542076] Chr11:118505328 [GRCh38]
Chr11:118376043 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.130C>A (p.Pro44Thr) single nucleotide variant Wiedemann-Steiner syndrome [RCV001542457]|not provided [RCV003688942]|not specified [RCV003388024] Chr11:118436642 [GRCh38]
Chr11:118307357 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.129del (p.Pro45fs) deletion Wiedemann-Steiner syndrome [RCV001542458] Chr11:118436639 [GRCh38]
Chr11:118307354 [GRCh37]
Chr11:11q23.3		 likely pathogenic
NM_001197104.2(KMT2A):c.11147-35G>A single nucleotide variant not provided [RCV001598328] Chr11:118519583 [GRCh38]
Chr11:118390298 [GRCh37]
Chr11:11q23.3		 benign
NM_001197104.2(KMT2A):c.5558-26T>C single nucleotide variant not provided [RCV001555688] Chr11:118496235 [GRCh38]
Chr11:118366950 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.9319T>C (p.Leu3107=) single nucleotide variant not provided [RCV001560889] Chr11:118505211 [GRCh38]
Chr11:118375926 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.4218+25G>T single nucleotide variant not provided [RCV001669632] Chr11:118484339 [GRCh38]
Chr11:118355054 [GRCh37]
Chr11:11q23.3		 benign
NM_001197104.2(KMT2A):c.11430-115C>T single nucleotide variant not provided [RCV001618130] Chr11:118520687 [GRCh38]
Chr11:118391402 [GRCh37]
Chr11:11q23.3		 benign
NM_001197104.2(KMT2A):c.5572C>T (p.Arg1858Ter) single nucleotide variant Wiedemann-Steiner syndrome [RCV003152768]|not provided [RCV001665395] Chr11:118496275 [GRCh38]
Chr11:118366990 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.11272G>C (p.Glu3758Gln) single nucleotide variant not provided [RCV002284694] Chr11:118519743 [GRCh38]
Chr11:118390458 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.10900+250A>T single nucleotide variant not provided [RCV001556855] Chr11:118509450 [GRCh38]
Chr11:118380165 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.6450A>G (p.Thr2150=) single nucleotide variant not provided [RCV001689249] Chr11:118501802 [GRCh38]
Chr11:118372517 [GRCh37]
Chr11:11q23.3		 benign
NM_001197104.2(KMT2A):c.11513+80C>T single nucleotide variant not provided [RCV001682220] Chr11:118520965 [GRCh38]
Chr11:118391680 [GRCh37]
Chr11:11q23.3		 benign
NM_001197104.2(KMT2A):c.3335-298G>A single nucleotide variant not provided [RCV001570040] Chr11:118477669 [GRCh38]
Chr11:118348384 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.5289+5A>G single nucleotide variant not provided [RCV001693814] Chr11:118494403 [GRCh38]
Chr11:118365118 [GRCh37]
Chr11:11q23.3		 benign|likely benign
NM_001197104.2(KMT2A):c.7746A>G (p.Ser2582=) single nucleotide variant not provided [RCV001570519] Chr11:118503638 [GRCh38]
Chr11:118374353 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.1104_1114dup (p.Ala372fs) duplication not provided [RCV001552419] Chr11:118472262..118472263 [GRCh38]
Chr11:118342977..118342978 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.5525C>T (p.Thr1842Ile) single nucleotide variant not provided [RCV001653086] Chr11:118495861 [GRCh38]
Chr11:118366576 [GRCh37]
Chr11:11q23.3		 likely benign|conflicting interpretations of pathogenicity
NM_001197104.2(KMT2A):c.6158+25G>C single nucleotide variant not provided [RCV001650315] Chr11:118499938 [GRCh38]
Chr11:118370653 [GRCh37]
Chr11:11q23.3		 benign
NM_001197104.2(KMT2A):c.2413C>T (p.Gln805Ter) single nucleotide variant not provided [RCV001532664] Chr11:118473572 [GRCh38]
Chr11:118344287 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.11644-7T>C single nucleotide variant not provided [RCV001532668] Chr11:118521890 [GRCh38]
Chr11:118392605 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.6576C>T (p.Ser2192=) single nucleotide variant KMT2A-related condition [RCV003921310]|Wiedemann-Steiner syndrome [RCV002477872]|not provided [RCV001653123] Chr11:118502468 [GRCh38]
Chr11:118373183 [GRCh37]
Chr11:11q23.3		 benign|likely benign
NM_001197104.2(KMT2A):c.6700G>A (p.Gly2234Arg) single nucleotide variant Inborn genetic diseases [RCV002579488]|not provided [RCV001588449] Chr11:118502592 [GRCh38]
Chr11:118373307 [GRCh37]
Chr11:11q23.3		 likely benign|conflicting interpretations of pathogenicity
NM_001197104.2(KMT2A):c.2629_2630dup (p.Asp877fs) microsatellite not provided [RCV001539672] Chr11:118473778..118473779 [GRCh38]
Chr11:118344493..118344494 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.11071+10T>C single nucleotide variant not provided [RCV000885202] Chr11:118510128 [GRCh38]
Chr11:118380843 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.2985A>C (p.Ser995=) single nucleotide variant not provided [RCV000922828] Chr11:118474144 [GRCh38]
Chr11:118344859 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.4326T>C (p.His1442=) single nucleotide variant KMT2A-related condition [RCV003955929]|Wiedemann-Steiner syndrome [RCV002507571]|not provided [RCV000887434] Chr11:118484969 [GRCh38]
Chr11:118355684 [GRCh37]
Chr11:11q23.3		 benign|likely benign
NM_001197104.2(KMT2A):c.9039T>A (p.Gly3013=) single nucleotide variant KMT2A-related condition [RCV003968067]|Wiedemann-Steiner syndrome [RCV002501431]|not provided [RCV000887435] Chr11:118504931 [GRCh38]
Chr11:118375646 [GRCh37]
Chr11:11q23.3		 benign|likely benign
NM_001197104.2(KMT2A):c.6964T>A (p.Ser2322Thr) single nucleotide variant not provided [RCV000903314] Chr11:118502856 [GRCh38]
Chr11:118373571 [GRCh37]
Chr11:11q23.3		 benign
NM_001197104.2(KMT2A):c.10209G>A (p.Pro3403=) single nucleotide variant Wiedemann-Steiner syndrome [RCV002505438]|not provided [RCV000959234] Chr11:118506101 [GRCh38]
Chr11:118376816 [GRCh37]
Chr11:11q23.3		 benign|likely benign
NM_001197104.2(KMT2A):c.435T>C (p.Asp145=) single nucleotide variant not provided [RCV000909323] Chr11:118468777 [GRCh38]
Chr11:118339492 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.4086+8G>C single nucleotide variant KMT2A-related condition [RCV003915847]|not provided [RCV000954647] Chr11:118482503 [GRCh38]
Chr11:118353218 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.8632C>T (p.Leu2878=) single nucleotide variant KMT2A-related condition [RCV003930659]|not provided [RCV000885802] Chr11:118504524 [GRCh38]
Chr11:118375239 [GRCh37]
Chr11:11q23.3		 benign|likely benign
NM_001197104.2(KMT2A):c.11874G>A (p.Leu3958=) single nucleotide variant not provided [RCV000879429] Chr11:118522127 [GRCh38]
Chr11:118392842 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.8040C>T (p.Asp2680=) single nucleotide variant not provided [RCV000901258] Chr11:118503932 [GRCh38]
Chr11:118374647 [GRCh37]
Chr11:11q23.3		 benign
NM_001197104.2(KMT2A):c.3291A>G (p.Pro1097=) single nucleotide variant not provided [RCV000954728] Chr11:118476939 [GRCh38]
Chr11:118347654 [GRCh37]
Chr11:11q23.3		 benign|likely benign
NM_001197104.2(KMT2A):c.6009C>T (p.Asp2003=) single nucleotide variant not provided [RCV000954729]|not specified [RCV001818993] Chr11:118499350 [GRCh38]
Chr11:118370065 [GRCh37]
Chr11:11q23.3		 benign|likely benign
NM_001197104.2(KMT2A):c.11391T>C (p.Asn3797=) single nucleotide variant KMT2A-related condition [RCV003977939]|not provided [RCV000907359] Chr11:118520026 [GRCh38]
Chr11:118390741 [GRCh37]
Chr11:11q23.3		 benign|likely benign
NM_001197104.2(KMT2A):c.7021ACA[1] (p.Thr2342del) microsatellite not provided [RCV000915061] Chr11:118502913..118502915 [GRCh38]
Chr11:118373628..118373630 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.1884G>A (p.Glu628=) single nucleotide variant not provided [RCV000939182] Chr11:118473043 [GRCh38]
Chr11:118343758 [GRCh37]
Chr11:11q23.3		 benign
NM_001197104.2(KMT2A):c.6816A>G (p.Thr2272=) single nucleotide variant not provided [RCV000901666] Chr11:118502708 [GRCh38]
Chr11:118373423 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.10475C>T (p.Ala3492Val) single nucleotide variant KMT2A-related condition [RCV003923027]|not provided [RCV000903780] Chr11:118506367 [GRCh38]
Chr11:118377082 [GRCh37]
Chr11:11q23.3		 benign|likely benign
NM_001197104.2(KMT2A):c.8454C>G (p.Pro2818=) single nucleotide variant not provided [RCV000908136] Chr11:118504346 [GRCh38]
Chr11:118375061 [GRCh37]
Chr11:11q23.3		 benign
NM_001197104.2(KMT2A):c.218G>A (p.Gly73Glu) single nucleotide variant KMT2A-related condition [RCV003933163]|not provided [RCV000930000] Chr11:118436730 [GRCh38]
Chr11:118307445 [GRCh37]
Chr11:11q23.3		 benign|likely benign
NM_001197104.2(KMT2A):c.11292C>T (p.His3764=) single nucleotide variant not provided [RCV000882394] Chr11:118519763 [GRCh38]
Chr11:118390478 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.9904G>A (p.Ala3302Thr) single nucleotide variant not provided [RCV000979255] Chr11:118505796 [GRCh38]
Chr11:118376511 [GRCh37]
Chr11:11q23.3		 benign|likely benign
NM_001197104.2(KMT2A):c.4686C>G (p.Leu1562=) single nucleotide variant not provided [RCV000930023] Chr11:118490239 [GRCh38]
Chr11:118360954 [GRCh37]
Chr11:11q23.3		 benign
NM_001197104.2(KMT2A):c.9913T>C (p.Leu3305=) single nucleotide variant not provided [RCV000896079] Chr11:118505805 [GRCh38]
Chr11:118376520 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.54C>T (p.Gly18=) single nucleotide variant not provided [RCV000932209] Chr11:118436566 [GRCh38]
Chr11:118307281 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.10609A>G (p.Thr3537Ala) single nucleotide variant Inborn genetic diseases [RCV003169280]|not provided [RCV000909666] Chr11:118506501 [GRCh38]
Chr11:118377216 [GRCh37]
Chr11:11q23.3		 benign|likely benign
NM_001197104.2(KMT2A):c.7038G>A (p.Leu2346=) single nucleotide variant KMT2A-related condition [RCV003900820]|not provided [RCV001582292] Chr11:118502930 [GRCh38]
Chr11:118373645 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.572C>A (p.Ser191Ter) single nucleotide variant Wiedemann-Steiner syndrome [RCV001007873] Chr11:118471731 [GRCh38]
Chr11:118342446 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.889del (p.Val297fs) deletion not provided [RCV001091038] Chr11:118472044 [GRCh38]
Chr11:118342759 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.10835+8G>A single nucleotide variant not provided [RCV000935862] Chr11:118507617 [GRCh38]
Chr11:118378332 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.6699C>T (p.Thr2233=) single nucleotide variant not provided [RCV000911681] Chr11:118502591 [GRCh38]
Chr11:118373306 [GRCh37]
Chr11:11q23.3		 benign
NM_001197104.2(KMT2A):c.10009T>C (p.Leu3337=) single nucleotide variant not provided [RCV000935051] Chr11:118505901 [GRCh38]
Chr11:118376616 [GRCh37]
Chr11:11q23.3		 benign
NM_001197104.2(KMT2A):c.10113G>A (p.Arg3371=) single nucleotide variant not provided [RCV000913974]|not specified [RCV001818846] Chr11:118506005 [GRCh38]
Chr11:118376720 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.6698C>T (p.Thr2233Ile) single nucleotide variant Inborn genetic diseases [RCV002540830]|not provided [RCV000911680] Chr11:118502590 [GRCh38]
Chr11:118373305 [GRCh37]
Chr11:11q23.3		 benign
NM_001197104.2(KMT2A):c.4224T>C (p.Asp1408=) single nucleotide variant not provided [RCV000890909] Chr11:118484867 [GRCh38]
Chr11:118355582 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.7299A>G (p.Lys2433=) single nucleotide variant KMT2A-related condition [RCV003957918]|not provided [RCV000889258] Chr11:118503191 [GRCh38]
Chr11:118373906 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.11076C>T (p.Ala3692=) single nucleotide variant not provided [RCV000935009] Chr11:118511955 [GRCh38]
Chr11:118382670 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.3831G>A (p.Ser1277=) single nucleotide variant not provided [RCV002967502] Chr11:118481911 [GRCh38]
Chr11:118352626 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.3761C>T (p.Pro1254Leu) single nucleotide variant not provided [RCV001545086] Chr11:118481841 [GRCh38]
Chr11:118352556 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.7787T>C (p.Val2596Ala) single nucleotide variant Inborn genetic diseases [RCV002568998]|not provided [RCV001557120] Chr11:118503679 [GRCh38]
Chr11:118374394 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.526C>T (p.Arg176Cys) single nucleotide variant Wiedemann-Steiner syndrome [RCV002470332] Chr11:118471685 [GRCh38]
Chr11:118342400 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.5585C>T (p.Pro1862Leu) single nucleotide variant not provided [RCV003231933] Chr11:118496288 [GRCh38]
Chr11:118367003 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.2429_2430insG (p.Glu811fs) insertion Wiedemann-Steiner syndrome [RCV002470577] Chr11:118473588..118473589 [GRCh38]
Chr11:118344303..118344304 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.9523A>G (p.Ser3175Gly) single nucleotide variant not provided [RCV003235969] Chr11:118505415 [GRCh38]
Chr11:118376130 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.6320-5C>T single nucleotide variant not provided [RCV001577955] Chr11:118501667 [GRCh38]
Chr11:118372382 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.502+239T>C single nucleotide variant not provided [RCV001563509] Chr11:118469083 [GRCh38]
Chr11:118339798 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.3335-268G>T single nucleotide variant not provided [RCV001552213] Chr11:118477699 [GRCh38]
Chr11:118348414 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.4915C>A (p.Leu1639Ile) single nucleotide variant Wiedemann-Steiner syndrome [RCV002470200] Chr11:118491839 [GRCh38]
Chr11:118362554 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.5005-3T>C single nucleotide variant Wiedemann-Steiner syndrome [RCV002470249] Chr11:118493054 [GRCh38]
Chr11:118363769 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.8191A>G (p.Thr2731Ala) single nucleotide variant not provided [RCV002464759] Chr11:118504083 [GRCh38]
Chr11:118374798 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.122C>G (p.Pro41Arg) single nucleotide variant not provided [RCV000994734] Chr11:118436634 [GRCh38]
Chr11:118307349 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.4177dup (p.Ile1393fs) duplication not provided [RCV000994735] Chr11:118484267..118484268 [GRCh38]
Chr11:118354982..118354983 [GRCh37]
Chr11:11q23.3		 likely pathogenic
NM_001197104.2(KMT2A):c.6379C>T (p.Arg2127Ter) single nucleotide variant not provided [RCV003234327] Chr11:118501731 [GRCh38]
Chr11:118372446 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.9514A>G (p.Thr3172Ala) single nucleotide variant Inborn genetic diseases [RCV002569008]|not provided [RCV001559491] Chr11:118505406 [GRCh38]
Chr11:118376121 [GRCh37]
Chr11:11q23.3		 likely benign|conflicting interpretations of pathogenicity
NM_001197104.2(KMT2A):c.11437A>G (p.Thr3813Ala) single nucleotide variant not provided [RCV003233147] Chr11:118520809 [GRCh38]
Chr11:118391524 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.*297A>G single nucleotide variant not provided [RCV001656070] Chr11:118522469 [GRCh38]
Chr11:118393184 [GRCh37]
Chr11:11q23.3		 benign
NM_001197104.2(KMT2A):c.11072-3C>T single nucleotide variant Inborn genetic diseases [RCV002573360]|not provided [RCV001595925] Chr11:118511948 [GRCh38]
Chr11:118382663 [GRCh37]
Chr11:11q23.3		 benign|likely benign
NM_001197104.2(KMT2A):c.905G>A (p.Arg302Gln) single nucleotide variant Wiedemann-Steiner syndrome [RCV002254004] Chr11:118472064 [GRCh38]
Chr11:118342779 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.10755-50C>T single nucleotide variant not provided [RCV001544713] Chr11:118507479 [GRCh38]
Chr11:118378194 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.9400C>T (p.Leu3134Phe) single nucleotide variant KMT2A-related condition [RCV003910870]|not provided [RCV001549892] Chr11:118505292 [GRCh38]
Chr11:118376007 [GRCh37]
Chr11:11q23.3		 likely benign|conflicting interpretations of pathogenicity
NM_001197104.2(KMT2A):c.485C>G (p.Pro162Arg) single nucleotide variant not provided [RCV003237123] Chr11:118468827 [GRCh38]
Chr11:118339542 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.3770G>T (p.Ser1257Ile) single nucleotide variant Inborn genetic diseases [RCV003246985]|not provided [RCV001560398] Chr11:118481850 [GRCh38]
Chr11:118352565 [GRCh37]
Chr11:11q23.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001197104.2(KMT2A):c.9511G>A (p.Ala3171Thr) single nucleotide variant not provided [RCV001560422] Chr11:118505403 [GRCh38]
Chr11:118376118 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.795G>T (p.Gln265His) single nucleotide variant not provided [RCV001576330] Chr11:118471954 [GRCh38]
Chr11:118342669 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.9127C>G (p.Pro3043Ala) single nucleotide variant not provided [RCV002467251] Chr11:118505019 [GRCh38]
Chr11:118375734 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.4333-162A>G single nucleotide variant not provided [RCV001561240] Chr11:118488452 [GRCh38]
Chr11:118359167 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.7983G>C (p.Lys2661Asn) single nucleotide variant Inborn genetic diseases [RCV002539731]|KMT2A-related condition [RCV003968515]|not provided [RCV001720462] Chr11:118503875 [GRCh38]
Chr11:118374590 [GRCh37]
Chr11:11q23.3		 benign|likely benign
NM_001197104.2(KMT2A):c.5961+36_5961+37dup duplication not provided [RCV001561370] Chr11:118498550..118498551 [GRCh38]
Chr11:118369265..118369266 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.2214_2218del (p.Arg738fs) microsatellite Wiedemann-Steiner syndrome [RCV003444063]|not provided [RCV001561460] Chr11:118473367..118473371 [GRCh38]
Chr11:118344082..118344086 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.1610G>C (p.Ser537Thr) single nucleotide variant Wiedemann-Steiner syndrome [RCV002470533] Chr11:118472769 [GRCh38]
Chr11:118343484 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.3283G>A (p.Ala1095Thr) single nucleotide variant Wiedemann-Steiner syndrome [RCV002471770] Chr11:118476931 [GRCh38]
Chr11:118347646 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.2326G>C (p.Val776Leu) single nucleotide variant Wiedemann-Steiner syndrome [RCV002470516] Chr11:118473485 [GRCh38]
Chr11:118344200 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.11073dup (p.Ala3692fs) duplication Wiedemann-Steiner syndrome [RCV002471989] Chr11:118511951..118511952 [GRCh38]
Chr11:118382666..118382667 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.9768_9769del (p.Leu3257fs) deletion not provided [RCV001008965] Chr11:118505660..118505661 [GRCh38]
Chr11:118376375..118376376 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.5804_5817dup (p.Gln1940fs) duplication not provided [RCV001009049] Chr11:118498370..118498371 [GRCh38]
Chr11:118369085..118369086 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.1470_1471del (p.Gln491fs) microsatellite not provided [RCV001009124] Chr11:118472626..118472627 [GRCh38]
Chr11:118343341..118343342 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.7071del (p.Ser2358fs) deletion not provided [RCV001009133] Chr11:118502961 [GRCh38]
Chr11:118373676 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.4086+270AAG[5] microsatellite not provided [RCV001674481] Chr11:118482765..118482767 [GRCh38]
Chr11:118353480..118353482 [GRCh37]
Chr11:11q23.3		 benign
NM_001197104.2(KMT2A):c.3569+47G>T single nucleotide variant not provided [RCV001675117] Chr11:118478248 [GRCh38]
Chr11:118348963 [GRCh37]
Chr11:11q23.3		 benign
NM_001197104.2(KMT2A):c.4697-177G>A single nucleotide variant not provided [RCV001619085] Chr11:118491019 [GRCh38]
Chr11:118361734 [GRCh37]
Chr11:11q23.3		 benign
NM_001197104.2(KMT2A):c.10900+103dup duplication not provided [RCV001597625] Chr11:118509292..118509293 [GRCh38]
Chr11:118380007..118380008 [GRCh37]
Chr11:11q23.3		 benign
NM_001197104.2(KMT2A):c.3569+331C>T single nucleotide variant not provided [RCV001652015] Chr11:118478532 [GRCh38]
Chr11:118349247 [GRCh37]
Chr11:11q23.3		 benign
NM_001197104.2(KMT2A):c.4333-168G>A single nucleotide variant not provided [RCV001660969] Chr11:118488446 [GRCh38]
Chr11:118359161 [GRCh37]
Chr11:11q23.3		 benign
NM_001197104.2(KMT2A):c.5802+34T>G single nucleotide variant not provided [RCV001656236] Chr11:118498107 [GRCh38]
Chr11:118368822 [GRCh37]
Chr11:11q23.3		 benign
NM_001197104.2(KMT2A):c.5961+37dup duplication not provided [RCV001678395] Chr11:118498550..118498551 [GRCh38]
Chr11:118369265..118369266 [GRCh37]
Chr11:11q23.3		 benign
NM_001197104.2(KMT2A):c.10375A>G (p.Asn3459Asp) single nucleotide variant not provided [RCV001678530] Chr11:118506267 [GRCh38]
Chr11:118376982 [GRCh37]
Chr11:11q23.3		 benign
NM_001197104.2(KMT2A):c.1529A>G (p.His510Arg) single nucleotide variant not provided [RCV001653383] Chr11:118472688 [GRCh38]
Chr11:118343403 [GRCh37]
Chr11:11q23.3		 benign
NM_001197104.2(KMT2A):c.4087-23A>G single nucleotide variant not provided [RCV001686047] Chr11:118484160 [GRCh38]
Chr11:118354875 [GRCh37]
Chr11:11q23.3		 benign
NM_001197104.2(KMT2A):c.2619_2620del (p.Ser873fs) deletion not provided [RCV001009085] Chr11:118473778..118473779 [GRCh38]
Chr11:118344493..118344494 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.11643+76A>G single nucleotide variant not provided [RCV001598545] Chr11:118521493 [GRCh38]
Chr11:118392208 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.5664+32A>T single nucleotide variant not provided [RCV001658703] Chr11:118496399 [GRCh38]
Chr11:118367114 [GRCh37]
Chr11:11q23.3		 benign
NM_001197104.2(KMT2A):c.4479+17T>C single nucleotide variant not provided [RCV001656589] Chr11:118488777 [GRCh38]
Chr11:118359492 [GRCh37]
Chr11:11q23.3		 benign
NM_001197104.2(KMT2A):c.1828T>A (p.Ser610Thr) single nucleotide variant Intellectual disability [RCV001252542] Chr11:118472987 [GRCh38]
Chr11:118343702 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.865A>T (p.Lys289Ter) single nucleotide variant not provided [RCV001171615] Chr11:118472024 [GRCh38]
Chr11:118342739 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.11072-285G>A single nucleotide variant not provided [RCV001567654] Chr11:118511666 [GRCh38]
Chr11:118382381 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.5289+55G>A single nucleotide variant not provided [RCV001724486] Chr11:118494453 [GRCh38]
Chr11:118365168 [GRCh37]
Chr11:11q23.3		 benign
NM_001197104.2(KMT2A):c.5582G>T (p.Ser1861Ile) single nucleotide variant Wiedemann-Steiner syndrome [RCV001169915] Chr11:118496285 [GRCh38]
Chr11:118367000 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.10754+162G>A single nucleotide variant not provided [RCV001541615] Chr11:118506808 [GRCh38]
Chr11:118377523 [GRCh37]
Chr11:11q23.3		 benign
NM_001197104.2(KMT2A):c.1704dup (p.Pro569fs) duplication not provided [RCV001532662] Chr11:118472862..118472863 [GRCh38]
Chr11:118343577..118343578 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.1808del (p.Pro603fs) deletion not provided [RCV001532663] Chr11:118472966 [GRCh38]
Chr11:118343681 [GRCh37]
Chr11:11q23.3		 likely pathogenic
NM_001197104.2(KMT2A):c.8124G>A (p.Glu2708=) single nucleotide variant not provided [RCV001532667] Chr11:118504016 [GRCh38]
Chr11:118374731 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.11644-46G>A single nucleotide variant not provided [RCV001709426]|not specified [RCV003487742] Chr11:118521851 [GRCh38]
Chr11:118392566 [GRCh37]
Chr11:11q23.3		 benign
NM_001197104.2(KMT2A):c.3941C>T (p.Pro1314Leu) single nucleotide variant not provided [RCV001590402] Chr11:118482021 [GRCh38]
Chr11:118352736 [GRCh37]
Chr11:11q23.3		 likely benign|conflicting interpretations of pathogenicity
NM_001197104.2(KMT2A):c.3335-38A>G single nucleotide variant not provided [RCV001616984] Chr11:118477929 [GRCh38]
Chr11:118348644 [GRCh37]
Chr11:11q23.3		 benign
NM_001197104.2(KMT2A):c.5290-146C>T single nucleotide variant not provided [RCV001695475] Chr11:118494548 [GRCh38]
Chr11:118365263 [GRCh37]
Chr11:11q23.3		 benign
NM_001197104.2(KMT2A):c.5557+23G>A single nucleotide variant not provided [RCV001684473] Chr11:118495916 [GRCh38]
Chr11:118366631 [GRCh37]
Chr11:11q23.3		 benign
NM_001197104.2(KMT2A):c.2388dup (p.Thr797fs) duplication not provided [RCV001542068] Chr11:118473543..118473544 [GRCh38]
Chr11:118344258..118344259 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.5004+226T>C single nucleotide variant not provided [RCV001615492] Chr11:118492154 [GRCh38]
Chr11:118362869 [GRCh37]
Chr11:11q23.3		 benign
NM_001197104.2(KMT2A):c.2986T>C (p.Ser996Pro) single nucleotide variant Wiedemann-Steiner syndrome [RCV001542394]|not provided [RCV003234078] Chr11:118474145 [GRCh38]
Chr11:118344860 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.2690C>G (p.Ser897Ter) single nucleotide variant Wiedemann-Steiner syndrome [RCV001542476] Chr11:118473849 [GRCh38]
Chr11:118344564 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.1:c.(4332+1_4333-1)_(6505+1_6506-1)del deletion Wiedemann-Steiner syndrome [RCV001706774]   pathogenic
NM_001197104.2(KMT2A):c.4820-45T>C single nucleotide variant not provided [RCV001696421]|not specified [RCV003487725] Chr11:118491699 [GRCh38]
Chr11:118362414 [GRCh37]
Chr11:11q23.3		 benign
NM_001197104.2(KMT2A):c.5363+267G>A single nucleotide variant not provided [RCV001587919] Chr11:118495034 [GRCh38]
Chr11:118365749 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.11147-251A>C single nucleotide variant not provided [RCV001536539] Chr11:118519367 [GRCh38]
Chr11:118390082 [GRCh37]
Chr11:11q23.3		 benign
NM_001197104.2(KMT2A):c.3541G>T (p.Gly1181Cys) single nucleotide variant not provided [RCV001065206] Chr11:118478173 [GRCh38]
Chr11:118348888 [GRCh37]
Chr11:11q23.3		 likely pathogenic
NM_001197104.2(KMT2A):c.3156+87T>A single nucleotide variant not provided [RCV001614738] Chr11:118474402 [GRCh38]
Chr11:118345117 [GRCh37]
Chr11:11q23.3		 benign
NM_001197104.2(KMT2A):c.6506-190G>A single nucleotide variant not provided [RCV001714034] Chr11:118502208 [GRCh38]
Chr11:118372923 [GRCh37]
Chr11:11q23.3		 benign
NM_001197104.2(KMT2A):c.6506-94AT[8] microsatellite not provided [RCV001681573] Chr11:118502303..118502304 [GRCh38]
Chr11:118373018..118373019 [GRCh37]
Chr11:11q23.3		 benign
NM_001197104.2(KMT2A):c.5961+37del deletion not provided [RCV001547614]|not specified [RCV003487476] Chr11:118498551 [GRCh38]
Chr11:118369266 [GRCh37]
Chr11:11q23.3		 benign|likely benign
NC_000011.9:g.(?_117856768)_(118972385_?)del deletion Combined immunodeficiency due to CD3gamma deficiency [RCV001382626]|Immunodeficiency 18 [RCV001389243]|Immunodeficiency 19 [RCV001031688]|Inflammatory bowel disease 28 [RCV001386823] Chr11:117856768..118972385 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.11322-48G>A single nucleotide variant not provided [RCV001708273] Chr11:118519909 [GRCh38]
Chr11:118390624 [GRCh37]
Chr11:11q23.3		 benign
NM_001197104.2(KMT2A):c.6142T>G (p.Phe2048Val) single nucleotide variant Wiedemann-Steiner syndrome [RCV001095739] Chr11:118499897 [GRCh38]
Chr11:118370612 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.4969T>G (p.Ser1657Ala) single nucleotide variant Wiedemann-Steiner syndrome [RCV001195838] Chr11:118491893 [GRCh38]
Chr11:118362608 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.4420T>A (p.Trp1474Arg) single nucleotide variant Wiedemann-Steiner syndrome [RCV001198595] Chr11:118488701 [GRCh38]
Chr11:118359416 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.491G>A (p.Arg164Lys) single nucleotide variant Wiedemann-Steiner syndrome [RCV001198607]|not provided [RCV002561063] Chr11:118468833 [GRCh38]
Chr11:118339548 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.8432G>A (p.Arg2811His) single nucleotide variant Inborn genetic diseases [RCV003372988]|not provided [RCV001092296] Chr11:118504324 [GRCh38]
Chr11:118375039 [GRCh37]
Chr11:11q23.3		 likely benign|uncertain significance
NM_001197104.2(KMT2A):c.2522del (p.Pro841fs) deletion Wiedemann-Steiner syndrome [RCV003313175]|not provided [RCV001046153] Chr11:118473678 [GRCh38]
Chr11:118344393 [GRCh37]
Chr11:11q23.3		 pathogenic|not provided
NM_001197104.2(KMT2A):c.9629_9636del (p.Leu3210fs) deletion not provided [RCV001200571] Chr11:118505518..118505525 [GRCh38]
Chr11:118376233..118376240 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.3935_3936del (p.Thr1312fs) deletion Wiedemann-Steiner syndrome [RCV001027685] Chr11:118482014..118482015 [GRCh38]
Chr11:118352729..118352730 [GRCh37]
Chr11:11q23.3		 likely pathogenic
NM_001197104.2(KMT2A):c.11001dup (p.Pro3668fs) duplication KMT2A-related condition [RCV003918645]|not provided [RCV001008908] Chr11:118510042..118510043 [GRCh38]
Chr11:118380757..118380758 [GRCh37]
Chr11:11q23.3		 pathogenic
Single allele deletion Short stature [RCV001003892] Chr11:114433313..131230466 [GRCh37]
Chr11:11q23.2-25		 likely pathogenic
NM_001197104.2(KMT2A):c.5961+39A>G single nucleotide variant not provided [RCV001545289] Chr11:118498567 [GRCh38]
Chr11:118369282 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.4246G>T (p.Glu1416Ter) single nucleotide variant Wiedemann-Steiner syndrome [RCV001252544] Chr11:118484889 [GRCh38]
Chr11:118355604 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.7466A>C (p.Lys2489Thr) single nucleotide variant Intellectual disability [RCV001252546] Chr11:118503358 [GRCh38]
Chr11:118374073 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.2552_2553del (p.Lys851fs) deletion Microcephaly [RCV001252690] Chr11:118473710..118473711 [GRCh38]
Chr11:118344425..118344426 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.2354_2402dup (p.His801delinsGlnSerSerCysHisTer) duplication Wiedemann-Steiner syndrome [RCV001251197] Chr11:118473511..118473512 [GRCh38]
Chr11:118344226..118344227 [GRCh37]
Chr11:11q23.3		 likely pathogenic
NM_001197104.2(KMT2A):c.9119C>T (p.Pro3040Leu) single nucleotide variant Intellectual disability [RCV001252543] Chr11:118505011 [GRCh38]
Chr11:118375726 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.3581G>A (p.Cys1194Tyr) single nucleotide variant Wiedemann-Steiner syndrome [RCV001253369] Chr11:118480185 [GRCh38]
Chr11:118350900 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.9839C>A (p.Ser3280Ter) single nucleotide variant Wiedemann-Steiner syndrome [RCV001252545] Chr11:118505731 [GRCh38]
Chr11:118376446 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.10217C>G (p.Ser3406Ter) single nucleotide variant Microcephaly [RCV001252689] Chr11:118506109 [GRCh38]
Chr11:118376824 [GRCh37]
Chr11:11q23.3		 likely pathogenic
NM_001197104.2(KMT2A):c.9682C>T (p.Arg3228Cys) single nucleotide variant Intellectual disability [RCV001257642]|not provided [RCV001879978] Chr11:118505574 [GRCh38]
Chr11:118376289 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.3920dup (p.Gln1308fs) duplication Intellectual disability [RCV001257643] Chr11:118481998..118481999 [GRCh38]
Chr11:118352713..118352714 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.5828G>A (p.Gly1943Glu) single nucleotide variant Wiedemann-Steiner syndrome [RCV001262256] Chr11:118498395 [GRCh38]
Chr11:118369110 [GRCh37]
Chr11:11q23.3		 likely pathogenic
NM_001197104.2(KMT2A):c.4086G>A (p.Lys1362=) single nucleotide variant Inborn genetic diseases [RCV001265883] Chr11:118482495 [GRCh38]
Chr11:118353210 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.173del (p.Pro58fs) deletion Inborn genetic diseases [RCV001265985] Chr11:118436679 [GRCh38]
Chr11:118307394 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.3373_3374del (p.Leu1125fs) microsatellite Inborn genetic diseases [RCV001266031] Chr11:118478003..118478004 [GRCh38]
Chr11:118348718..118348719 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.518G>A (p.Arg173Gln) single nucleotide variant Inborn genetic diseases [RCV001266249]|not provided [RCV002537686] Chr11:118471677 [GRCh38]
Chr11:118342392 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.766del (p.Ile256fs) deletion Inborn genetic diseases [RCV001266339] Chr11:118471919 [GRCh38]
Chr11:118342634 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.166_167insA (p.Ser56fs) insertion Inborn genetic diseases [RCV001266557] Chr11:118436678..118436679 [GRCh38]
Chr11:118307393..118307394 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.7508C>A (p.Ala2503Asp) single nucleotide variant not provided [RCV001663293] Chr11:118503400 [GRCh38]
Chr11:118374115 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.5656del (p.Ser1886fs) deletion Inborn genetic diseases [RCV001267246] Chr11:118496359 [GRCh38]
Chr11:118367074 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.654_679delinsTTTACT (p.Glu219fs) indel Intellectual disability [RCV001257645] Chr11:118471813..118471838 [GRCh38]
Chr11:118342528..118342553 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.6445C>T (p.Arg2149Ter) single nucleotide variant Wiedemann-Steiner syndrome [RCV001619760]|not provided [RCV003159212] Chr11:118501797 [GRCh38]
Chr11:118372512 [GRCh37]
Chr11:11q23.3		 pathogenic|likely pathogenic
NM_001197104.2(KMT2A):c.2214_2218dup (p.Val740fs) microsatellite Wiedemann-Steiner syndrome [RCV001807915] Chr11:118473366..118473367 [GRCh38]
Chr11:118344081..118344082 [GRCh37]
Chr11:11q23.3		 likely pathogenic
NM_001197104.2(KMT2A):c.308del (p.Pro103fs) deletion Inborn genetic diseases [RCV001267068] Chr11:118436819 [GRCh38]
Chr11:118307534 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.4696+181G>A single nucleotide variant not provided [RCV001545640] Chr11:118490430 [GRCh38]
Chr11:118361145 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.4012+1del deletion Intellectual disability [RCV001257593] Chr11:118482092 [GRCh38]
Chr11:118352807 [GRCh37]
Chr11:11q23.3		 likely pathogenic
NM_001197104.2(KMT2A):c.9714_9735del (p.Pro3239fs) deletion Intellectual disability [RCV001257640] Chr11:118505605..118505626 [GRCh38]
Chr11:118376320..118376341 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.9440C>T (p.Ser3147Phe) single nucleotide variant Intellectual disability [RCV001257594] Chr11:118505332 [GRCh38]
Chr11:118376047 [GRCh37]
Chr11:11q23.3		 likely pathogenic
NM_001197104.2(KMT2A):c.765A>C (p.Lys255Asn) single nucleotide variant not provided [RCV001310621] Chr11:118471924 [GRCh38]
Chr11:118342639 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.1395_1396insG (p.Ser466fs) insertion Wiedemann-Steiner syndrome [RCV001333866] Chr11:118472554..118472555 [GRCh38]
Chr11:118343269..118343270 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.5876T>G (p.Phe1959Cys) single nucleotide variant Wiedemann-Steiner syndrome [RCV001262416] Chr11:118498443 [GRCh38]
Chr11:118369158 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.5363+1del deletion Rubinstein Taybi like syndrome [RCV001261777] Chr11:118494768 [GRCh38]
Chr11:118365483 [GRCh37]
Chr11:11q23.3		 likely pathogenic
NM_001197104.2(KMT2A):c.3157G>A (p.Gly1053Ser) single nucleotide variant Inborn genetic diseases [RCV001267127]|not provided [RCV001880134] Chr11:118476805 [GRCh38]
Chr11:118347520 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.4086+208_4086+221dup duplication not provided [RCV001536141] Chr11:118482697..118482698 [GRCh38]
Chr11:118353412..118353413 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.10322del (p.Thr3441fs) deletion not provided [RCV001268214] Chr11:118506214 [GRCh38]
Chr11:118376929 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.7841del (p.Ser2614fs) deletion not provided [RCV001268241] Chr11:118503733 [GRCh38]
Chr11:118374448 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.3933dup (p.Thr1312fs) duplication not provided [RCV001268832] Chr11:118482012..118482013 [GRCh38]
Chr11:118352727..118352728 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.10816G>T (p.Glu3606Ter) single nucleotide variant not provided [RCV001268329] Chr11:118507590 [GRCh38]
Chr11:118378305 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.3340del (p.Ser1114fs) deletion not provided [RCV001268392] Chr11:118477972 [GRCh38]
Chr11:118348687 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.5887C>T (p.Arg1963Ter) single nucleotide variant not provided [RCV001268657] Chr11:118498454 [GRCh38]
Chr11:118369169 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.1022C>T (p.Thr341Ile) single nucleotide variant not provided [RCV001964310] Chr11:118472181 [GRCh38]
Chr11:118342896 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.7007dup (p.Gln2337fs) duplication not provided [RCV001269764] Chr11:118502895..118502896 [GRCh38]
Chr11:118373610..118373611 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.10153_10154del (p.Leu3385fs) deletion not provided [RCV001268806] Chr11:118506043..118506044 [GRCh38]
Chr11:118376758..118376759 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.5335T>C (p.Phe1779Leu) single nucleotide variant Inborn genetic diseases [RCV001267471]|not provided [RCV003106172] Chr11:118494739 [GRCh38]
Chr11:118365454 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.6123C>T (p.Ser2041=) single nucleotide variant not provided [RCV001568133] Chr11:118499878 [GRCh38]
Chr11:118370593 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.835_838del (p.Ser279fs) microsatellite Inborn genetic diseases [RCV001267349] Chr11:118471991..118471994 [GRCh38]
Chr11:118342706..118342709 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.4310G>T (p.Cys1437Phe) single nucleotide variant Inborn genetic diseases [RCV001266111] Chr11:118484953 [GRCh38]
Chr11:118355668 [GRCh37]
Chr11:11q23.3		 likely pathogenic
NM_001197104.2(KMT2A):c.2394T>G (p.Phe798Leu) single nucleotide variant Inborn genetic diseases [RCV001266237]|not provided [RCV003727963] Chr11:118473553 [GRCh38]
Chr11:118344268 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.3570-2A>G single nucleotide variant Inborn genetic diseases [RCV001266315] Chr11:118480172 [GRCh38]
Chr11:118350887 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.3724C>T (p.Gln1242Ter) single nucleotide variant Inborn genetic diseases [RCV001266755] Chr11:118481804 [GRCh38]
Chr11:118352519 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.7975C>T (p.Arg2659Ter) single nucleotide variant Intellectual disability [RCV001257641]|Wiedemann-Steiner syndrome [RCV002250739] Chr11:118503867 [GRCh38]
Chr11:118374582 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.1142dup (p.Ala383fs) duplication Intellectual disability [RCV001257644]|not provided [RCV001564464] Chr11:118472295..118472296 [GRCh38]
Chr11:118343010..118343011 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.11388del (p.Asn3797fs) deletion Wiedemann-Steiner syndrome [RCV001261358] Chr11:118520020 [GRCh38]
Chr11:118390735 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.3515dup (p.Asn1172fs) duplication Rare genetic intellectual disability [RCV001257003] Chr11:118478145..118478146 [GRCh38]
Chr11:118348860..118348861 [GRCh37]
Chr11:11q23.3		 likely pathogenic
NM_001197104.2(KMT2A):c.7706G>C (p.Gly2569Ala) single nucleotide variant Intellectual disability [RCV001254987] Chr11:118503598 [GRCh38]
Chr11:118374313 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.2327T>C (p.Val776Ala) single nucleotide variant Wiedemann-Steiner syndrome [RCV001328708]|not provided [RCV003708593] Chr11:118473486 [GRCh38]
Chr11:118344201 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.10556C>T (p.Pro3519Leu) single nucleotide variant Wiedemann-Steiner syndrome [RCV001328706] Chr11:118506448 [GRCh38]
Chr11:118377163 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.6590G>A (p.Arg2197His) single nucleotide variant not provided [RCV001320503] Chr11:118502482 [GRCh38]
Chr11:118373197 [GRCh37]
Chr11:11q23.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_001197104.2(KMT2A):c.9068del (p.Gln3023fs) deletion not provided [RCV001281642] Chr11:118504960 [GRCh38]
Chr11:118375675 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.9545A>G (p.Asn3182Ser) single nucleotide variant not provided [RCV001325560] Chr11:118505437 [GRCh38]
Chr11:118376152 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.10401G>T (p.Gly3467=) single nucleotide variant not provided [RCV001352028] Chr11:118506293 [GRCh38]
Chr11:118377008 [GRCh37]
Chr11:11q23.3		 benign|uncertain significance
NM_001197104.2(KMT2A):c.3094G>T (p.Ala1032Ser) single nucleotide variant Wiedemann-Steiner syndrome [RCV001328709] Chr11:118474253 [GRCh38]
Chr11:118344968 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.9713C>A (p.Ala3238Asp) single nucleotide variant not provided [RCV001300544] Chr11:118505605 [GRCh38]
Chr11:118376320 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.167C>A (p.Ser56Tyr) single nucleotide variant Wiedemann-Steiner syndrome [RCV001333868]|not provided [RCV002546657] Chr11:118436679 [GRCh38]
Chr11:118307394 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.3413A>G (p.Asn1138Ser) single nucleotide variant Wiedemann-Steiner syndrome [RCV001328710]|not provided [RCV003770812] Chr11:118478045 [GRCh38]
Chr11:118348760 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.3472T>C (p.Cys1158Arg) single nucleotide variant See cases [RCV001420193] Chr11:118478104 [GRCh38]
Chr11:118348819 [GRCh37]
Chr11:11q23.3		 likely pathogenic
NM_001197104.2(KMT2A):c.4696G>A (p.Gly1566Arg) single nucleotide variant Neurodevelopmental disorder [RCV001374926]|Wiedemann-Steiner syndrome [RCV003148986] Chr11:118490249 [GRCh38]
Chr11:118360964 [GRCh37]
Chr11:11q23.3		 likely pathogenic
NM_001197104.2(KMT2A):c.4361_4362insACATTAAACCAGCTGTAAAGTGCCACTTTATAAAATAAGC (p.Pro1454_Phe1455insHisTer) microsatellite not provided [RCV001369879] Chr11:118488641..118488642 [GRCh38]
Chr11:118359356..118359357 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.4479+3A>G single nucleotide variant not provided [RCV001310622] Chr11:118488763 [GRCh38]
Chr11:118359478 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.7451A>G (p.Asn2484Ser) single nucleotide variant Wiedemann-Steiner syndrome [RCV001333871]|not provided [RCV002546659] Chr11:118503343 [GRCh38]
Chr11:118374058 [GRCh37]
Chr11:11q23.3		 uncertain significance
t(11;17)(q23;q12-q21) translocation Acute megakaryoblastic leukemia without down syndrome [RCV001293747] Chr11:118353211..118354897 [GRCh37]
Chr17:36869043..36871864 [GRCh37]
Chr11:11q23.3
Chr17:17q12		 pathogenic
NM_001197104.2(KMT2A):c.2199T>C (p.Asn733=) single nucleotide variant not provided [RCV001422497] Chr11:118473358 [GRCh38]
Chr11:118344073 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.1660C>T (p.Gln554Ter) single nucleotide variant Wiedemann-Steiner syndrome [RCV001333867] Chr11:118472819 [GRCh38]
Chr11:118343534 [GRCh37]
Chr11:11q23.3		 pathogenic
NC_000011.9:g.(?_117856768)_(118972385_?)dup duplication Combined immunodeficiency due to CD3gamma deficiency [RCV001313154]|Glucose-6-phosphate transport defect [RCV001031254]|Immunodeficiency 18 [RCV001338286]|Immunodeficiency 19 [RCV001322413]|Inflammatory bowel disease 28 [RCV001304384] Chr11:117856768..118972385 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.188CGG[4] (p.Ala67del) microsatellite Wiedemann-Steiner syndrome [RCV002493666]|not provided [RCV001318498] Chr11:118436699..118436701 [GRCh38]
Chr11:118307414..118307416 [GRCh37]
Chr11:11q23.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001197104.2(KMT2A):c.5341G>C (p.Glu1781Gln) single nucleotide variant not provided [RCV001324070] Chr11:118494745 [GRCh38]
Chr11:118365460 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.2115dup (p.Glu706Ter) duplication not provided [RCV001269763] Chr11:118473273..118473274 [GRCh38]
Chr11:118343988..118343989 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.3968C>T (p.Thr1323Ile) single nucleotide variant Wiedemann-Steiner syndrome [RCV001333869] Chr11:118482048 [GRCh38]
Chr11:118352763 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.6563C>G (p.Ser2188Cys) single nucleotide variant Wiedemann-Steiner syndrome [RCV001270816]|not provided [RCV003660885] Chr11:118502455 [GRCh38]
Chr11:118373170 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.7020del (p.Asn2340fs) deletion Autism [RCV001281456] Chr11:118502912 [GRCh38]
Chr11:118373627 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.3634+4G>A single nucleotide variant Inborn genetic diseases [RCV002550184]|not provided [RCV001374015] Chr11:118480242 [GRCh38]
Chr11:118350957 [GRCh37]
Chr11:11q23.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NC_000011.9:g.(?_118007722)_(119170511_?)del deletion Long QT syndrome 10 [RCV001309948] Chr11:118007722..119170511 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.694A>G (p.Lys232Glu) single nucleotide variant Wiedemann-Steiner syndrome [RCV001330474]|not provided [RCV002546394] Chr11:118471853 [GRCh38]
Chr11:118342568 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.9937G>C (p.Ala3313Pro) single nucleotide variant not provided [RCV001316930] Chr11:118505829 [GRCh38]
Chr11:118376544 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.6124G>A (p.Asp2042Asn) single nucleotide variant not provided [RCV001347422] Chr11:118499879 [GRCh38]
Chr11:118370594 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.133C>T (p.Pro45Ser) single nucleotide variant Wiedemann-Steiner syndrome [RCV001328707] Chr11:118436645 [GRCh38]
Chr11:118307360 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.10863G>C (p.Gln3621His) single nucleotide variant not provided [RCV001300889] Chr11:118509163 [GRCh38]
Chr11:118379878 [GRCh37]
Chr11:11q23.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_001197104.2(KMT2A):c.10735T>A (p.Ser3579Thr) single nucleotide variant not provided [RCV001323549] Chr11:118506627 [GRCh38]
Chr11:118377342 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.5935C>T (p.Arg1979Ter) single nucleotide variant See cases [RCV001420263] Chr11:118498502 [GRCh38]
Chr11:118369217 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.5635T>C (p.Cys1879Arg) single nucleotide variant Wiedemann-Steiner syndrome [RCV001328712] Chr11:118496338 [GRCh38]
Chr11:118367053 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.4163G>T (p.Ser1388Ile) single nucleotide variant KMT2A-related condition [RCV003928849]|not provided [RCV001340315] Chr11:118484259 [GRCh38]
Chr11:118354974 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.2452A>T (p.Lys818Ter) single nucleotide variant See cases [RCV001420252] Chr11:118473611 [GRCh38]
Chr11:118344326 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.5260A>T (p.Asn1754Tyr) single nucleotide variant not provided [RCV001269975] Chr11:118494369 [GRCh38]
Chr11:118365084 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.5802+20T>C single nucleotide variant not provided [RCV001412502] Chr11:118498093 [GRCh38]
Chr11:118368808 [GRCh37]
Chr11:11q23.3		 likely benign
Single allele deletion Intellectual disability [RCV001293382] Chr11:118359328..118372573 [GRCh37]
Chr11:11p15.3-q23.3		 pathogenic
NM_001197104.2(KMT2A):c.883_886del (p.Lys295fs) microsatellite Wiedemann-Steiner syndrome [RCV001290428] Chr11:118472035..118472038 [GRCh38]
Chr11:118342750..118342753 [GRCh37]
Chr11:11q23.3		 likely pathogenic
NM_001197104.2(KMT2A):c.6852T>A (p.Asp2284Glu) single nucleotide variant not provided [RCV001369615] Chr11:118502744 [GRCh38]
Chr11:118373459 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.5176G>A (p.Val1726Met) single nucleotide variant Wiedemann-Steiner syndrome [RCV001333870]|not provided [RCV002546658] Chr11:118493228 [GRCh38]
Chr11:118363943 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.9850A>C (p.Thr3284Pro) single nucleotide variant not provided [RCV001326725] Chr11:118505742 [GRCh38]
Chr11:118376457 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.1404C>G (p.His468Gln) single nucleotide variant not provided [RCV001338054] Chr11:118472563 [GRCh38]
Chr11:118343278 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.5822del (p.Lys1941fs) deletion Wiedemann-Steiner syndrome [RCV001527632] Chr11:118498386 [GRCh38]
Chr11:118369101 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.810T>C (p.Ile270=) single nucleotide variant KMT2A-related condition [RCV003980416]|not provided [RCV001484544] Chr11:118471969 [GRCh38]
Chr11:118342684 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.7475A>G (p.Asp2492Gly) single nucleotide variant not provided [RCV001454880] Chr11:118503367 [GRCh38]
Chr11:118374082 [GRCh37]
Chr11:11q23.3		 benign|likely benign
NM_001197104.2(KMT2A):c.4819+20A>G single nucleotide variant not provided [RCV001523538] Chr11:118491338 [GRCh38]
Chr11:118362053 [GRCh37]
Chr11:11q23.3		 benign
NM_001197104.2(KMT2A):c.8650T>C (p.Leu2884=) single nucleotide variant KMT2A-related condition [RCV003940905]|not provided [RCV001512771] Chr11:118504542 [GRCh38]
Chr11:118375257 [GRCh37]
Chr11:11q23.3		 benign
NM_001197104.2(KMT2A):c.9947C>T (p.Ala3316Val) single nucleotide variant KMT2A-related condition [RCV003920914]|Wiedemann-Steiner syndrome [RCV002488233]|not provided [RCV001419941] Chr11:118505839 [GRCh38]
Chr11:118376554 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.3063_3085del (p.Arg1022fs) deletion not provided [RCV001389273] Chr11:118474220..118474242 [GRCh38]
Chr11:118344935..118344957 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.321G>A (p.Arg107=) single nucleotide variant not provided [RCV001430368] Chr11:118436833 [GRCh38]
Chr11:118307548 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.4990C>T (p.Leu1664=) single nucleotide variant not provided [RCV001407076] Chr11:118491914 [GRCh38]
Chr11:118362629 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.4369A>G (p.Lys1457Glu) single nucleotide variant not provided [RCV001448756] Chr11:118488650 [GRCh38]
Chr11:118359365 [GRCh37]
Chr11:11q23.3		 benign|likely benign
NM_001197104.2(KMT2A):c.2426C>T (p.Ser809Phe) single nucleotide variant Inborn genetic diseases [RCV002568253]|not provided [RCV001541465] Chr11:118473585 [GRCh38]
Chr11:118344300 [GRCh37]
Chr11:11q23.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001197104.2(KMT2A):c.3545G>A (p.Arg1182His) single nucleotide variant not provided [RCV001532665] Chr11:118478177 [GRCh38]
Chr11:118348892 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.4466A>G (p.His1489Arg) single nucleotide variant not provided [RCV001532666] Chr11:118488747 [GRCh38]
Chr11:118359462 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.10077G>A (p.Ala3359=) single nucleotide variant not provided [RCV001410515] Chr11:118505969 [GRCh38]
Chr11:118376684 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.5256dup (p.Ala1753fs) duplication not provided [RCV001541935] Chr11:118494359..118494360 [GRCh38]
Chr11:118365074..118365075 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.3635-2del deletion not provided [RCV001378525] Chr11:118481713 [GRCh38]
Chr11:118352428 [GRCh37]
Chr11:11q23.3		 likely pathogenic
NM_001197104.2(KMT2A):c.7597del (p.Glu2533fs) deletion Wiedemann-Steiner syndrome [RCV001375967] Chr11:118503488 [GRCh38]
Chr11:118374203 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.4087-148T>A single nucleotide variant not provided [RCV001535098] Chr11:118484035 [GRCh38]
Chr11:118354750 [GRCh37]
Chr11:11q23.3		 benign
NM_001197104.2(KMT2A):c.3926del (p.Pro1309fs) deletion not provided [RCV001381843] Chr11:118482005 [GRCh38]
Chr11:118352720 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.10327G>A (p.Ala3443Thr) single nucleotide variant not provided [RCV001502357] Chr11:118506219 [GRCh38]
Chr11:118376934 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.5802+12T>C single nucleotide variant not provided [RCV001666892] Chr11:118498085 [GRCh38]
Chr11:118368800 [GRCh37]
Chr11:11q23.3		 benign
NM_001197104.2(KMT2A):c.11072-44C>T single nucleotide variant not provided [RCV001666968] Chr11:118511907 [GRCh38]
Chr11:118382622 [GRCh37]
Chr11:11q23.3		 benign
NM_001197104.2(KMT2A):c.3634+27C>A single nucleotide variant not provided [RCV001671448] Chr11:118480265 [GRCh38]
Chr11:118350980 [GRCh37]
Chr11:11q23.3		 benign
NM_001197104.2(KMT2A):c.11430-142dup duplication not provided [RCV001588549] Chr11:118520650..118520651 [GRCh38]
Chr11:118391365..118391366 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.4086+271del deletion not provided [RCV001616350] Chr11:118482753 [GRCh38]
Chr11:118353468 [GRCh37]
Chr11:11q23.3		 benign
NM_001197104.2(KMT2A):c.10836-28T>C single nucleotide variant not provided [RCV001678958] Chr11:118509108 [GRCh38]
Chr11:118379823 [GRCh37]
Chr11:11q23.3		 benign
NM_001197104.2(KMT2A):c.502+296C>A single nucleotide variant not provided [RCV001590592] Chr11:118469140 [GRCh38]
Chr11:118339855 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.4665G>A (p.Leu1555=) single nucleotide variant not provided [RCV001431409] Chr11:118490218 [GRCh38]
Chr11:118360933 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.11429+19G>A single nucleotide variant not provided [RCV001519386] Chr11:118520083 [GRCh38]
Chr11:118390798 [GRCh37]
Chr11:11q23.3		 benign
NM_001197104.2(KMT2A):c.5498A>G (p.Lys1833Arg) single nucleotide variant not provided [RCV001512156] Chr11:118495834 [GRCh38]
Chr11:118366549 [GRCh37]
Chr11:11q23.3		 benign
NM_001197104.2(KMT2A):c.3114G>A (p.Glu1038=) single nucleotide variant not provided [RCV001498104] Chr11:118474273 [GRCh38]
Chr11:118344988 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.3635-22TGT[2] microsatellite not provided [RCV001498744] Chr11:118481693..118481695 [GRCh38]
Chr11:118352408..118352410 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.6158+22_6158+26del microsatellite not provided [RCV001513751] Chr11:118499929..118499933 [GRCh38]
Chr11:118370644..118370648 [GRCh37]
Chr11:11q23.3		 benign
NM_001197104.2(KMT2A):c.4218+20A>G single nucleotide variant Wiedemann-Steiner syndrome [RCV002501774]|not provided [RCV001513072] Chr11:118484334 [GRCh38]
Chr11:118355049 [GRCh37]
Chr11:11q23.3		 benign|likely benign
NM_001197104.2(KMT2A):c.807G>A (p.Lys269=) single nucleotide variant not provided [RCV001521645] Chr11:118471966 [GRCh38]
Chr11:118342681 [GRCh37]
Chr11:11q23.3		 benign
NM_001197104.2(KMT2A):c.10657G>A (p.Gly3553Arg) single nucleotide variant not provided [RCV001434703] Chr11:118506549 [GRCh38]
Chr11:118377264 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.10591C>G (p.Pro3531Ala) single nucleotide variant Inborn genetic diseases [RCV002551606]|not provided [RCV001393576] Chr11:118506483 [GRCh38]
Chr11:118377198 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.2629_2630del (p.Asp877fs) microsatellite not provided [RCV001385989] Chr11:118473779..118473780 [GRCh38]
Chr11:118344494..118344495 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.2865del (p.Val956fs) deletion not provided [RCV001385661] Chr11:118474024 [GRCh38]
Chr11:118344739 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.10023dup (p.Ser3342fs) duplication Intellectual disability [RCV001526616] Chr11:118505913..118505914 [GRCh38]
Chr11:118376628..118376629 [GRCh37]
Chr11:11q23.3		 pathogenic
NC_000011.9:g.104288964_134937416dup duplication Distal trisomy 11q [RCV001250234] Chr11:104288964..134937416 [GRCh37]
Chr11:11q22.3-25		 pathogenic
NM_001197104.2(KMT2A):c.3547A>G (p.Asn1183Asp) single nucleotide variant Wiedemann-Steiner syndrome [RCV002249088] Chr11:118478179 [GRCh38]
Chr11:118348894 [GRCh37]
Chr11:11q23.3		 likely pathogenic
NM_001197104.2(KMT2A):c.2143G>A (p.Val715Ile) single nucleotide variant Wiedemann-Steiner syndrome [RCV002244282] Chr11:118473302 [GRCh38]
Chr11:118344017 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.4772G>A (p.Cys1591Tyr) single nucleotide variant not provided [RCV003127001] Chr11:118491271 [GRCh38]
Chr11:118361986 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.10308G>C (p.Gln3436His) single nucleotide variant not provided [RCV001726858] Chr11:118506200 [GRCh38]
Chr11:118376915 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.93_163del (p.Arg32fs) deletion not provided [RCV001726857] Chr11:118436595..118436665 [GRCh38]
Chr11:118307310..118307380 [GRCh37]
Chr11:11q23.3		 likely pathogenic
NM_001197104.2(KMT2A):c.11322-6C>A single nucleotide variant not specified [RCV002238599] Chr11:118519951 [GRCh38]
Chr11:118390666 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.4171C>T (p.Gln1391Ter) single nucleotide variant Wiedemann-Steiner syndrome [RCV002226874] Chr11:118484267 [GRCh38]
Chr11:118354982 [GRCh37]
Chr11:11q23.3		 pathogenic|likely pathogenic
NM_001197104.2(KMT2A):c.9275_9276del (p.Tyr3092fs) deletion Wiedemann-Steiner syndrome [RCV001782349] Chr11:118505166..118505167 [GRCh38]
Chr11:118375881..118375882 [GRCh37]
Chr11:11q23.3		 likely pathogenic
NM_001197104.2(KMT2A):c.9847C>T (p.Arg3283Ter) single nucleotide variant Neurodevelopmental disorder [RCV002277637]|not provided [RCV003235697] Chr11:118505739 [GRCh38]
Chr11:118376454 [GRCh37]
Chr11:11q23.3		 pathogenic|likely pathogenic
NM_001197104.2(KMT2A):c.8874_8875del (p.Lys2961fs) deletion not provided [RCV002273513] Chr11:118504766..118504767 [GRCh38]
Chr11:118375481..118375482 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.836C>G (p.Ser279Cys) single nucleotide variant Autism spectrum disorder [RCV003128068] Chr11:118471995 [GRCh38]
Chr11:118342710 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.7854G>A (p.Arg2618=) single nucleotide variant not provided [RCV001733138] Chr11:118503746 [GRCh38]
Chr11:118374461 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.9953G>C (p.Gly3318Ala) single nucleotide variant not specified [RCV002271764] Chr11:118505845 [GRCh38]
Chr11:118376560 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.9299G>C (p.Gly3100Ala) single nucleotide variant not provided [RCV001760754] Chr11:118505191 [GRCh38]
Chr11:118375906 [GRCh37]
Chr11:11q23.3		 uncertain significance
NC_000011.9:g.(?_116691583)_(121500272_?)dup duplication Combined immunodeficiency due to CD3gamma deficiency [RCV003119252]|Immunodeficiency 18 [RCV003109226]|Immunodeficiency 19 [RCV003109224]|Inflammatory bowel disease 28 [RCV003109225]|Isolated microphthalmia 5 [RCV003119251]|RASopathy [RCV003119250] Chr11:116691583..121500272 [GRCh37]
Chr11:11q23.3-24.1		 uncertain significance
NM_001197104.2(KMT2A):c.10448T>C (p.Val3483Ala) single nucleotide variant not provided [RCV001763271] Chr11:118506340 [GRCh38]
Chr11:118377055 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.1652dup (p.Ser551fs) duplication See cases [RCV002252509] Chr11:118472810..118472811 [GRCh38]
Chr11:118343525..118343526 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.11724C>T (p.Ile3908=) single nucleotide variant not provided [RCV001760710] Chr11:118521977 [GRCh38]
Chr11:118392692 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.2661_2663delinsTTT (p.Glu887_Ser888delinsAspLeu) indel not provided [RCV001767035] Chr11:118473820..118473822 [GRCh38]
Chr11:118344535..118344537 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.11465G>A (p.Arg3822His) single nucleotide variant not provided [RCV001767082] Chr11:118520837 [GRCh38]
Chr11:118391552 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.7023A>C (p.Thr2341=) single nucleotide variant not provided [RCV001754383] Chr11:118502915 [GRCh38]
Chr11:118373630 [GRCh37]
Chr11:11q23.3		 benign
NM_001197104.2(KMT2A):c.8623T>C (p.Ser2875Pro) single nucleotide variant not provided [RCV001754593] Chr11:118504515 [GRCh38]
Chr11:118375230 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.6737T>A (p.Val2246Asp) single nucleotide variant not provided [RCV001754709] Chr11:118502629 [GRCh38]
Chr11:118373344 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.10755-3C>A single nucleotide variant not provided [RCV001769249] Chr11:118507526 [GRCh38]
Chr11:118378241 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.2099C>T (p.Pro700Leu) single nucleotide variant not provided [RCV001770778] Chr11:118473258 [GRCh38]
Chr11:118343973 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.2030G>A (p.Arg677Gln) single nucleotide variant not provided [RCV001774796] Chr11:118473189 [GRCh38]
Chr11:118343904 [GRCh37]
Chr11:11q23.3		 likely benign|conflicting interpretations of pathogenicity
NM_001197104.2(KMT2A):c.409G>T (p.Gly137Cys) single nucleotide variant not provided [RCV001771126] Chr11:118436921 [GRCh38]
Chr11:118307636 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.3634+1G>A single nucleotide variant Wiedemann-Steiner syndrome [RCV001775371] Chr11:118480239 [GRCh38]
Chr11:118350954 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.3853C>T (p.Gln1285Ter) single nucleotide variant Wiedemann-Steiner syndrome [RCV001775398] Chr11:118481933 [GRCh38]
Chr11:118352648 [GRCh37]
Chr11:11q23.3		 likely pathogenic
NM_001197104.2(KMT2A):c.1054C>T (p.Pro352Ser) single nucleotide variant not provided [RCV001773143] Chr11:118472213 [GRCh38]
Chr11:118342928 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.2483C>G (p.Ser828Ter) single nucleotide variant Wiedemann-Steiner syndrome [RCV001788542] Chr11:118473642 [GRCh38]
Chr11:118344357 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.3448C>T (p.Arg1150Cys) single nucleotide variant not provided [RCV001732661] Chr11:118478080 [GRCh38]
Chr11:118348795 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.3380C>T (p.Pro1127Leu) single nucleotide variant not provided [RCV001763781] Chr11:118478012 [GRCh38]
Chr11:118348727 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.5383G>A (p.Ala1795Thr) single nucleotide variant not provided [RCV001773164] Chr11:118495719 [GRCh38]
Chr11:118366434 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.514C>T (p.Pro172Ser) single nucleotide variant not provided [RCV001765320] Chr11:118471673 [GRCh38]
Chr11:118342388 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.10208C>T (p.Pro3403Leu) single nucleotide variant not provided [RCV001752600] Chr11:118506100 [GRCh38]
Chr11:118376815 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.134C>G (p.Pro45Arg) single nucleotide variant not provided [RCV001774223]|not specified [RCV002241578] Chr11:118436646 [GRCh38]
Chr11:118307361 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.9386G>C (p.Gly3129Ala) single nucleotide variant not provided [RCV001765637] Chr11:118505278 [GRCh38]
Chr11:118375993 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.14G>C (p.Cys5Ser) single nucleotide variant not provided [RCV001774427] Chr11:118436526 [GRCh38]
Chr11:118307241 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.3005C>A (p.Ser1002Tyr) single nucleotide variant not provided [RCV001765889] Chr11:118474164 [GRCh38]
Chr11:118344879 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.8347A>G (p.Met2783Val) single nucleotide variant not provided [RCV001772862] Chr11:118504239 [GRCh38]
Chr11:118374954 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.6911C>A (p.Ser2304Tyr) single nucleotide variant not provided [RCV001772955] Chr11:118502803 [GRCh38]
Chr11:118373518 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.10288T>G (p.Cys3430Gly) single nucleotide variant KMT2A-related condition [RCV003968556]|not provided [RCV001794611] Chr11:118506180 [GRCh38]
Chr11:118376895 [GRCh37]
Chr11:11q23.3		 likely benign|conflicting interpretations of pathogenicity
NM_001197104.2(KMT2A):c.4557A>G (p.Thr1519=) single nucleotide variant not provided [RCV001786193] Chr11:118489869 [GRCh38]
Chr11:118360584 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.229G>A (p.Gly77Arg) single nucleotide variant not provided [RCV001768776] Chr11:118436741 [GRCh38]
Chr11:118307456 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.4061C>A (p.Pro1354His) single nucleotide variant not provided [RCV001754250] Chr11:118482470 [GRCh38]
Chr11:118353185 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.731T>G (p.Leu244Ter) single nucleotide variant Wiedemann-Steiner syndrome [RCV001775354] Chr11:118471890 [GRCh38]
Chr11:118342605 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.188CGG[6] (p.Ala67dup) microsatellite not provided [RCV001779888] Chr11:118436698..118436699 [GRCh38]
Chr11:118307413..118307414 [GRCh37]
Chr11:11q23.3		 likely benign|conflicting interpretations of pathogenicity
NM_001197104.2(KMT2A):c.11569A>T (p.Met3857Leu) single nucleotide variant not provided [RCV001767873] Chr11:118521343 [GRCh38]
Chr11:118392058 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.4808C>T (p.Ser1603Leu) single nucleotide variant not provided [RCV001773403] Chr11:118491307 [GRCh38]
Chr11:118362022 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.2198A>G (p.Asn733Ser) single nucleotide variant Wiedemann-Steiner syndrome [RCV003234098]|not provided [RCV001752065] Chr11:118473357 [GRCh38]
Chr11:118344072 [GRCh37]
Chr11:11q23.3		 uncertain significance|not provided
NM_001197104.2(KMT2A):c.10834G>A (p.Gly3612Arg) single nucleotide variant not provided [RCV001769338] Chr11:118507608 [GRCh38]
Chr11:118378323 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.3157-97T>C single nucleotide variant not provided [RCV001733018] Chr11:118476708 [GRCh38]
Chr11:118347423 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.3865C>G (p.Pro1289Ala) single nucleotide variant not provided [RCV001765578] Chr11:118481945 [GRCh38]
Chr11:118352660 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.11386C>A (p.Pro3796Thr) single nucleotide variant not provided [RCV001752830] Chr11:118520021 [GRCh38]
Chr11:118390736 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.209G>C (p.Ser70Thr) single nucleotide variant not provided [RCV001765301] Chr11:118436721 [GRCh38]
Chr11:118307436 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.1517C>A (p.Thr506Asn) single nucleotide variant not provided [RCV001770581] Chr11:118472676 [GRCh38]
Chr11:118343391 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.4346A>G (p.Gln1449Arg) single nucleotide variant not provided [RCV001770764] Chr11:118488627 [GRCh38]
Chr11:118359342 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.8365G>A (p.Val2789Ile) single nucleotide variant not provided [RCV001756893] Chr11:118504257 [GRCh38]
Chr11:118374972 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.3704A>G (p.Lys1235Arg) single nucleotide variant not provided [RCV001769032] Chr11:118481784 [GRCh38]
Chr11:118352499 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.6512C>T (p.Pro2171Leu) single nucleotide variant not provided [RCV001769034] Chr11:118502404 [GRCh38]
Chr11:118373119 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.2724G>C (p.Val908=) single nucleotide variant not provided [RCV001774660] Chr11:118473883 [GRCh38]
Chr11:118344598 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.5901del (p.Cys1967fs) deletion Wiedemann-Steiner syndrome [RCV001782350] Chr11:118498468 [GRCh38]
Chr11:118369183 [GRCh37]
Chr11:11q23.3		 likely pathogenic
NM_001197104.2(KMT2A):c.9355G>C (p.Glu3119Gln) single nucleotide variant not provided [RCV001754198] Chr11:118505247 [GRCh38]
Chr11:118375962 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.1690C>A (p.Pro564Thr) single nucleotide variant not provided [RCV001771301] Chr11:118472849 [GRCh38]
Chr11:118343564 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.1126_1127insG (p.Leu376fs) insertion Wiedemann-Steiner syndrome [RCV001783513] Chr11:118472285..118472286 [GRCh38]
Chr11:118343000..118343001 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.257C>T (p.Ser86Leu) single nucleotide variant not provided [RCV001763388] Chr11:118436769 [GRCh38]
Chr11:118307484 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.3626A>G (p.Gln1209Arg) single nucleotide variant not provided [RCV001786872] Chr11:118480230 [GRCh38]
Chr11:118350945 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.7155del (p.His2385fs) deletion Wiedemann-Steiner syndrome [RCV001801265] Chr11:118503047 [GRCh38]
Chr11:118373762 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.3241C>T (p.Arg1081Ter) single nucleotide variant Wiedemann-Steiner syndrome [RCV001795568]|not provided [RCV002272499] Chr11:118476889 [GRCh38]
Chr11:118347604 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.7477A>G (p.Lys2493Glu) single nucleotide variant Wiedemann-Steiner syndrome [RCV001795569]|not provided [RCV002541288] Chr11:118503369 [GRCh38]
Chr11:118374084 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.10418G>A (p.Arg3473His) single nucleotide variant not provided [RCV001795732] Chr11:118506310 [GRCh38]
Chr11:118377025 [GRCh37]
Chr11:11q23.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001197104.2(KMT2A):c.4924G>A (p.Glu1642Lys) single nucleotide variant Wiedemann-Steiner syndrome [RCV001797043] Chr11:118491848 [GRCh38]
Chr11:118362563 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.6470A>G (p.Gln2157Arg) single nucleotide variant not provided [RCV001757924] Chr11:118501822 [GRCh38]
Chr11:118372537 [GRCh37]
Chr11:11q23.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_001197104.2(KMT2A):c.6490C>T (p.Pro2164Ser) single nucleotide variant not provided [RCV001794713] Chr11:118501842 [GRCh38]
Chr11:118372557 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.5958C>T (p.Gly1986=) single nucleotide variant Wiedemann-Steiner syndrome [RCV002489842]|not provided [RCV001797332] Chr11:118498525 [GRCh38]
Chr11:118369240 [GRCh37]
Chr11:11q23.3		 pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_001197104.2(KMT2A):c.3505G>C (p.Val1169Leu) single nucleotide variant not provided [RCV001758495] Chr11:118478137 [GRCh38]
Chr11:118348852 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.2405C>T (p.Ser802Phe) single nucleotide variant not provided [RCV001757100] Chr11:118473564 [GRCh38]
Chr11:118344279 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.1018C>T (p.Leu340Phe) single nucleotide variant not provided [RCV001776670] Chr11:118472177 [GRCh38]
Chr11:118342892 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.5066C>G (p.Pro1689Arg) single nucleotide variant not provided [RCV001758043] Chr11:118493118 [GRCh38]
Chr11:118363833 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.10835+1G>C single nucleotide variant not provided [RCV001756461]|not specified [RCV001821976] Chr11:118507610 [GRCh38]
Chr11:118378325 [GRCh37]
Chr11:11q23.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_001197104.2(KMT2A):c.176C>G (p.Ala59Gly) single nucleotide variant not provided [RCV001806654] Chr11:118436688 [GRCh38]
Chr11:118307403 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.5256A>C (p.Lys1752Asn) single nucleotide variant Inborn genetic diseases [RCV002541501]|not provided [RCV001814928] Chr11:118494365 [GRCh38]
Chr11:118365080 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.2684A>G (p.Lys895Arg) single nucleotide variant not provided [RCV001815730] Chr11:118473843 [GRCh38]
Chr11:118344558 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.10984A>G (p.Ser3662Gly) single nucleotide variant not provided [RCV001815731] Chr11:118510031 [GRCh38]
Chr11:118380746 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.11006A>G (p.Lys3669Arg) single nucleotide variant Wiedemann-Steiner syndrome [RCV001809029]|not provided [RCV001869591] Chr11:118510053 [GRCh38]
Chr11:118380768 [GRCh37]
Chr11:11q23.3		 likely benign|uncertain significance
NM_001197104.2(KMT2A):c.1274del (p.Pro425fs) deletion Wiedemann-Steiner syndrome [RCV001814655] Chr11:118472430 [GRCh38]
Chr11:118343145 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.2569G>T (p.Glu857Ter) single nucleotide variant not provided [RCV001822163] Chr11:118473728 [GRCh38]
Chr11:118344443 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.5455C>T (p.Gln1819Ter) single nucleotide variant Wiedemann-Steiner syndrome [RCV001814827] Chr11:118495791 [GRCh38]
Chr11:118366506 [GRCh37]
Chr11:11q23.3		 pathogenic|likely pathogenic
NM_001197104.2(KMT2A):c.3634+4G>C single nucleotide variant not provided [RCV001814860] Chr11:118480242 [GRCh38]
Chr11:118350957 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.6577_6582del (p.Ile2193_Gly2194del) deletion not provided [RCV002025548] Chr11:118502467..118502472 [GRCh38]
Chr11:118373182..118373187 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.9409G>A (p.Gly3137Arg) single nucleotide variant not provided [RCV001988588] Chr11:118505301 [GRCh38]
Chr11:118376016 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.2294C>T (p.Ser765Phe) single nucleotide variant not provided [RCV001863739] Chr11:118473453 [GRCh38]
Chr11:118344168 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.11491A>G (p.Lys3831Glu) single nucleotide variant not provided [RCV002020454] Chr11:118520863 [GRCh38]
Chr11:118391578 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.10783G>A (p.Asp3595Asn) single nucleotide variant not provided [RCV002005499] Chr11:118507557 [GRCh38]
Chr11:118378272 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.9176C>T (p.Pro3059Leu) single nucleotide variant KMT2A-related condition [RCV003911121]|not provided [RCV001969892] Chr11:118505068 [GRCh38]
Chr11:118375783 [GRCh37]
Chr11:11q23.3		 likely benign|uncertain significance
NM_001197104.2(KMT2A):c.9059G>C (p.Gly3020Ala) single nucleotide variant not provided [RCV002009334] Chr11:118504951 [GRCh38]
Chr11:118375666 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.188CGG[7] (p.Ala66_Ala67dup) microsatellite Wiedemann-Steiner syndrome [RCV003134319]|not provided [RCV002025440] Chr11:118436698..118436699 [GRCh38]
Chr11:118307413..118307414 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.9167G>T (p.Ser3056Ile) single nucleotide variant not provided [RCV002009251] Chr11:118505059 [GRCh38]
Chr11:118375774 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.7301A>T (p.Lys2434Ile) single nucleotide variant not provided [RCV002009430] Chr11:118503193 [GRCh38]
Chr11:118373908 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.9331G>A (p.Val3111Ile) single nucleotide variant not provided [RCV001928372] Chr11:118505223 [GRCh38]
Chr11:118375938 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.10441C>A (p.Pro3481Thr) single nucleotide variant Inborn genetic diseases [RCV002554277]|not provided [RCV001912719] Chr11:118506333 [GRCh38]
Chr11:118377048 [GRCh37]
Chr11:11q23.3		 likely benign|uncertain significance
NM_001197104.2(KMT2A):c.8917T>C (p.Ser2973Pro) single nucleotide variant not provided [RCV001913868] Chr11:118504809 [GRCh38]
Chr11:118375524 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.7844T>A (p.Phe2615Tyr) single nucleotide variant not provided [RCV002043926] Chr11:118503736 [GRCh38]
Chr11:118374451 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.7507G>A (p.Ala2503Thr) single nucleotide variant not provided [RCV001873832] Chr11:118503399 [GRCh38]
Chr11:118374114 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.4778G>A (p.Arg1593His) single nucleotide variant not provided [RCV001895734] Chr11:118491277 [GRCh38]
Chr11:118361992 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.260C>T (p.Ser87Leu) single nucleotide variant KMT2A-related condition [RCV003892926]|not provided [RCV001908340] Chr11:118436772 [GRCh38]
Chr11:118307487 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.1780T>A (p.Ser594Thr) single nucleotide variant not provided [RCV001988175] Chr11:118472939 [GRCh38]
Chr11:118343654 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.8264A>G (p.Asn2755Ser) single nucleotide variant not provided [RCV001927710] Chr11:118504156 [GRCh38]
Chr11:118374871 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.10803G>C (p.Gln3601His) single nucleotide variant Inborn genetic diseases [RCV002552973]|not provided [RCV001908220] Chr11:118507577 [GRCh38]
Chr11:118378292 [GRCh37]
Chr11:11q23.3		 likely benign|uncertain significance
NM_001197104.2(KMT2A):c.5961A>G (p.Glu1987=) single nucleotide variant not provided [RCV001986299] Chr11:118498528 [GRCh38]
Chr11:118369243 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.5898C>A (p.Asn1966Lys) single nucleotide variant not provided [RCV002045383] Chr11:118498465 [GRCh38]
Chr11:118369180 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.10069A>G (p.Ser3357Gly) single nucleotide variant not provided [RCV002045523] Chr11:118505961 [GRCh38]
Chr11:118376676 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.9961A>G (p.Thr3321Ala) single nucleotide variant not provided [RCV001929809] Chr11:118505853 [GRCh38]
Chr11:118376568 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.1169A>C (p.Glu390Ala) single nucleotide variant not provided [RCV001949953] Chr11:118472328 [GRCh38]
Chr11:118343043 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.9885CAT[1] (p.Ile3296del) microsatellite not provided [RCV001915126] Chr11:118505777..118505779 [GRCh38]
Chr11:118376492..118376494 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.10384C>T (p.Leu3462Phe) single nucleotide variant not provided [RCV001988533] Chr11:118506276 [GRCh38]
Chr11:118376991 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.7430T>C (p.Met2477Thr) single nucleotide variant not provided [RCV001929375] Chr11:118503322 [GRCh38]
Chr11:118374037 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.3007A>G (p.Thr1003Ala) single nucleotide variant not provided [RCV001914586] Chr11:118474166 [GRCh38]
Chr11:118344881 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.188CGG[3] (p.Ala66_Ala67del) microsatellite not provided [RCV002045250] Chr11:118436699..118436704 [GRCh38]
Chr11:118307414..118307419 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.11201T>C (p.Ile3734Thr) single nucleotide variant Inborn genetic diseases [RCV002573470]|not provided [RCV001971512] Chr11:118519672 [GRCh38]
Chr11:118390387 [GRCh37]
Chr11:11q23.3		 likely benign|uncertain significance
NM_001197104.2(KMT2A):c.6374C>T (p.Pro2125Leu) single nucleotide variant Wiedemann-Steiner syndrome [RCV003134301]|not provided [RCV001965871] Chr11:118501726 [GRCh38]
Chr11:118372441 [GRCh37]
Chr11:11q23.3		 uncertain significance
GRCh37/hg19 11q23.1-24.3(chr11:112375478-128785742)x3 copy number gain not provided [RCV001829187] Chr11:112375478..128785742 [GRCh37]
Chr11:11q23.1-24.3		 pathogenic
NM_001197104.2(KMT2A):c.9089G>A (p.Ser3030Asn) single nucleotide variant not provided [RCV001947806] Chr11:118504981 [GRCh38]
Chr11:118375696 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.7496G>A (p.Gly2499Glu) single nucleotide variant not provided [RCV001893775] Chr11:118503388 [GRCh38]
Chr11:118374103 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.7736A>G (p.Asn2579Ser) single nucleotide variant not provided [RCV001911354] Chr11:118503628 [GRCh38]
Chr11:118374343 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.3917C>T (p.Pro1306Leu) single nucleotide variant not provided [RCV001909765] Chr11:118481997 [GRCh38]
Chr11:118352712 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.10210C>A (p.Pro3404Thr) single nucleotide variant not provided [RCV001892740] Chr11:118506102 [GRCh38]
Chr11:118376817 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.2600G>A (p.Ser867Asn) single nucleotide variant See cases [RCV002252721]|Wiedemann-Steiner syndrome [RCV002478311]|not provided [RCV001911337] Chr11:118473759 [GRCh38]
Chr11:118344474 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.3495G>T (p.Glu1165Asp) single nucleotide variant not provided [RCV001892485] Chr11:118478127 [GRCh38]
Chr11:118348842 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.619G>A (p.Gly207Arg) single nucleotide variant not provided [RCV001926313] Chr11:118471778 [GRCh38]
Chr11:118342493 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.6812G>A (p.Arg2271Lys) single nucleotide variant not provided [RCV001984319] Chr11:118502704 [GRCh38]
Chr11:118373419 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.1571A>C (p.Asn524Thr) single nucleotide variant not provided [RCV001909607] Chr11:118472730 [GRCh38]
Chr11:118343445 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.1657C>T (p.Pro553Ser) single nucleotide variant not provided [RCV001983780] Chr11:118472816 [GRCh38]
Chr11:118343531 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.9035del (p.Cys3012fs) deletion Wiedemann-Steiner syndrome [RCV002052169] Chr11:118504927 [GRCh38]
Chr11:118375642 [GRCh37]
Chr11:11q23.3		 likely pathogenic
NM_001197104.2(KMT2A):c.7838G>C (p.Gly2613Ala) single nucleotide variant not provided [RCV001910785] Chr11:118503730 [GRCh38]
Chr11:118374445 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.4096C>T (p.Pro1366Ser) single nucleotide variant not provided [RCV001908971] Chr11:118484192 [GRCh38]
Chr11:118354907 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.69del (p.Arg24fs) deletion Wiedemann-Steiner syndrome [RCV001843868] Chr11:118436576 [GRCh38]
Chr11:118307291 [GRCh37]
Chr11:11q23.3		 likely pathogenic
NM_001197104.2(KMT2A):c.7402A>T (p.Met2468Leu) single nucleotide variant not provided [RCV002005338] Chr11:118503294 [GRCh38]
Chr11:118374009 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.7492C>A (p.Pro2498Thr) single nucleotide variant not provided [RCV002021356] Chr11:118503384 [GRCh38]
Chr11:118374099 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.9635C>T (p.Thr3212Ile) single nucleotide variant Wiedemann-Steiner syndrome [RCV003132552]|not provided [RCV002042157] Chr11:118505527 [GRCh38]
Chr11:118376242 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.1508G>A (p.Arg503Gln) single nucleotide variant not provided [RCV001870949] Chr11:118472667 [GRCh38]
Chr11:118343382 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.4100C>T (p.Pro1367Leu) single nucleotide variant KMT2A-related condition [RCV003948831]|not provided [RCV001946112] Chr11:118484196 [GRCh38]
Chr11:118354911 [GRCh37]
Chr11:11q23.3		 likely benign|uncertain significance
NM_001197104.2(KMT2A):c.11610G>C (p.Gln3870His) single nucleotide variant not provided [RCV002041608] Chr11:118521384 [GRCh38]
Chr11:118392099 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.8019_8036del (p.Asp2673_Asp2678del) deletion not provided [RCV002044532] Chr11:118503906..118503923 [GRCh38]
Chr11:118374621..118374638 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.10813_10815del (p.Lys3605del) deletion not provided [RCV001911510] Chr11:118507585..118507587 [GRCh38]
Chr11:118378300..118378302 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.6062A>G (p.Asn2021Ser) single nucleotide variant not provided [RCV002021296] Chr11:118499403 [GRCh38]
Chr11:118370118 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.2317C>G (p.Pro773Ala) single nucleotide variant Inborn genetic diseases [RCV003164116]|not provided [RCV001872510] Chr11:118473476 [GRCh38]
Chr11:118344191 [GRCh37]
Chr11:11q23.3		 likely benign|uncertain significance
NM_001197104.2(KMT2A):c.2812T>C (p.Ser938Pro) single nucleotide variant not provided [RCV001894994] Chr11:118473971 [GRCh38]
Chr11:118344686 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.4435T>C (p.Cys1479Arg) single nucleotide variant not provided [RCV001987551] Chr11:118488716 [GRCh38]
Chr11:118359431 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.2198A>T (p.Asn733Ile) single nucleotide variant not provided [RCV002008226] Chr11:118473357 [GRCh38]
Chr11:118344072 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.6518C>T (p.Pro2173Leu) single nucleotide variant Wiedemann-Steiner syndrome [RCV001839370] Chr11:118502410 [GRCh38]
Chr11:118373125 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.4888C>T (p.Arg1630Trp) single nucleotide variant not provided [RCV002020377] Chr11:118491812 [GRCh38]
Chr11:118362527 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.6628C>T (p.Leu2210Phe) single nucleotide variant not provided [RCV002004032] Chr11:118502520 [GRCh38]
Chr11:118373235 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.10090C>T (p.His3364Tyr) single nucleotide variant not provided [RCV002021832] Chr11:118505982 [GRCh38]
Chr11:118376697 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.5609T>C (p.Ile1870Thr) single nucleotide variant not provided [RCV001928236] Chr11:118496312 [GRCh38]
Chr11:118367027 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.4972C>G (p.Arg1658Gly) single nucleotide variant KMT2A-related condition [RCV003978433]|not provided [RCV001987584] Chr11:118491896 [GRCh38]
Chr11:118362611 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.6839A>G (p.Asn2280Ser) single nucleotide variant not provided [RCV001968976] Chr11:118502731 [GRCh38]
Chr11:118373446 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.10133T>C (p.Ile3378Thr) single nucleotide variant not provided [RCV002008168] Chr11:118506025 [GRCh38]
Chr11:118376740 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.6619C>T (p.Arg2207Trp) single nucleotide variant not provided [RCV002024125] Chr11:118502511 [GRCh38]
Chr11:118373226 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.3191G>T (p.Arg1064Leu) single nucleotide variant not provided [RCV001949192] Chr11:118476839 [GRCh38]
Chr11:118347554 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.172C>T (p.Pro58Ser) single nucleotide variant not provided [RCV001987039] Chr11:118436684 [GRCh38]
Chr11:118307399 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.3016A>G (p.Ile1006Val) single nucleotide variant not provided [RCV001914051] Chr11:118474175 [GRCh38]
Chr11:118344890 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.4742A>G (p.Tyr1581Cys) single nucleotide variant not provided [RCV001966567] Chr11:118491241 [GRCh38]
Chr11:118361956 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.9903G>A (p.Pro3301=) single nucleotide variant not provided [RCV001888926] Chr11:118505795 [GRCh38]
Chr11:118376510 [GRCh37]
Chr11:11q23.3		 likely benign|uncertain significance
NM_001197104.2(KMT2A):c.2982_2988del (p.Ser995fs) deletion Wiedemann-Steiner syndrome [RCV002052048] Chr11:118474141..118474147 [GRCh38]
Chr11:118344856..118344862 [GRCh37]
Chr11:11q23.3		 likely pathogenic
NM_001197104.2(KMT2A):c.1035G>C (p.Lys345Asn) single nucleotide variant not provided [RCV001968390] Chr11:118472194 [GRCh38]
Chr11:118342909 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.11720TCA[1] (p.Ile3908del) microsatellite not provided [RCV001847433] Chr11:118521973..118521975 [GRCh38]
Chr11:118392688..118392690 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.3812G>A (p.Ser1271Asn) single nucleotide variant not provided [RCV001894822] Chr11:118481892 [GRCh38]
Chr11:118352607 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.10400G>T (p.Gly3467Val) single nucleotide variant not provided [RCV002022643] Chr11:118506292 [GRCh38]
Chr11:118377007 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.7307G>A (p.Cys2436Tyr) single nucleotide variant not provided [RCV001894870] Chr11:118503199 [GRCh38]
Chr11:118373914 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.8119C>T (p.Arg2707Trp) single nucleotide variant not provided [RCV001913842] Chr11:118504011 [GRCh38]
Chr11:118374726 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.1981G>A (p.Val661Ile) single nucleotide variant not provided [RCV002039443] Chr11:118473140 [GRCh38]
Chr11:118343855 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.11246G>A (p.Arg3749His) single nucleotide variant not provided [RCV002041137] Chr11:118519717 [GRCh38]
Chr11:118390432 [GRCh37]
Chr11:11q23.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_001197104.2(KMT2A):c.949G>C (p.Gly317Arg) single nucleotide variant not provided [RCV001894496] Chr11:118472108 [GRCh38]
Chr11:118342823 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.718G>A (p.Asp240Asn) single nucleotide variant not provided [RCV001895548] Chr11:118471877 [GRCh38]
Chr11:118342592 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.149G>A (p.Gly50Asp) single nucleotide variant not provided [RCV002004802] Chr11:118436661 [GRCh38]
Chr11:118307376 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.1975G>T (p.Glu659Ter) single nucleotide variant not provided [RCV001946612] Chr11:118473134 [GRCh38]
Chr11:118343849 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.2797C>T (p.Arg933Trp) single nucleotide variant Wiedemann-Steiner syndrome [RCV001839397]|not provided [RCV002077326] Chr11:118473956 [GRCh38]
Chr11:118344671 [GRCh37]
Chr11:11q23.3		 likely benign|uncertain significance
NM_001197104.2(KMT2A):c.272C>T (p.Ser91Phe) single nucleotide variant not provided [RCV001967454] Chr11:118436784 [GRCh38]
Chr11:118307499 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.5560_5562dup (p.Thr1854dup) duplication not provided [RCV001890709] Chr11:118496261..118496262 [GRCh38]
Chr11:118366976..118366977 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.2657G>A (p.Arg886Gln) single nucleotide variant not provided [RCV001910846] Chr11:118473816 [GRCh38]
Chr11:118344531 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.9352A>T (p.Met3118Leu) single nucleotide variant not provided [RCV001872739] Chr11:118505244 [GRCh38]
Chr11:118375959 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.1961C>T (p.Pro654Leu) single nucleotide variant Inborn genetic diseases [RCV003264160]|not provided [RCV001872804] Chr11:118473120 [GRCh38]
Chr11:118343835 [GRCh37]
Chr11:11q23.3		 likely benign|uncertain significance
NM_001197104.2(KMT2A):c.8959A>G (p.Thr2987Ala) single nucleotide variant not provided [RCV002043844] Chr11:118504851 [GRCh38]
Chr11:118375566 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.11149G>A (p.Val3717Ile) single nucleotide variant not provided [RCV002023257] Chr11:118519620 [GRCh38]
Chr11:118390335 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.10336_10338del (p.Ser3446del) deletion not provided [RCV001986186] Chr11:118506226..118506228 [GRCh38]
Chr11:118376941..118376943 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.7054G>A (p.Gly2352Ser) single nucleotide variant Inborn genetic diseases [RCV002545638]|not provided [RCV002041761] Chr11:118502946 [GRCh38]
Chr11:118373661 [GRCh37]
Chr11:11q23.3		 likely benign|uncertain significance
NM_001197104.2(KMT2A):c.10360C>G (p.Gln3454Glu) single nucleotide variant not provided [RCV001843668] Chr11:118506252 [GRCh38]
Chr11:118376967 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.4319G>C (p.Ser1440Thr) single nucleotide variant not provided [RCV001889984] Chr11:118484962 [GRCh38]
Chr11:118355677 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.936A>G (p.Ile312Met) single nucleotide variant not provided [RCV002004131] Chr11:118472095 [GRCh38]
Chr11:118342810 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.1977G>A (p.Glu659=) single nucleotide variant not provided [RCV002040613] Chr11:118473136 [GRCh38]
Chr11:118343851 [GRCh37]
Chr11:11q23.3		 likely benign|uncertain significance
NM_001197104.2(KMT2A):c.5766G>T (p.Lys1922Asn) single nucleotide variant not provided [RCV001966466] Chr11:118498037 [GRCh38]
Chr11:118368752 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.4701C>A (p.Asn1567Lys) single nucleotide variant not provided [RCV002040578] Chr11:118491200 [GRCh38]
Chr11:118361915 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.1474_1475delinsTT (p.Ala492Phe) indel not provided [RCV002002938] Chr11:118472633..118472634 [GRCh38]
Chr11:118343348..118343349 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.9379C>T (p.Pro3127Ser) single nucleotide variant Wiedemann-Steiner syndrome [RCV001839230]|not provided [RCV001869852] Chr11:118505271 [GRCh38]
Chr11:118375986 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.10001T>C (p.Val3334Ala) single nucleotide variant not provided [RCV002037591] Chr11:118505893 [GRCh38]
Chr11:118376608 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.11890G>A (p.Ala3964Thr) single nucleotide variant not provided [RCV002038460] Chr11:118522143 [GRCh38]
Chr11:118392858 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.5289+6T>C single nucleotide variant not provided [RCV001963678] Chr11:118494404 [GRCh38]
Chr11:118365119 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.7439G>A (p.Arg2480Gln) single nucleotide variant not provided [RCV001954267] Chr11:118503331 [GRCh38]
Chr11:118374046 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.3316T>G (p.Ser1106Ala) single nucleotide variant not provided [RCV001955598] Chr11:118476964 [GRCh38]
Chr11:118347679 [GRCh37]
Chr11:11q23.3		 uncertain significance
NC_000011.9:g.(?_116660844)_(121500272_?)dup duplication not provided [RCV003107886] Chr11:116660844..121500272 [GRCh37]
Chr11:11q23.3-24.1		 uncertain significance
NM_001197104.2(KMT2A):c.10451C>A (p.Ser3484Tyr) single nucleotide variant not provided [RCV002038884] Chr11:118506343 [GRCh38]
Chr11:118377058 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.10805C>G (p.Ser3602Cys) single nucleotide variant not provided [RCV001935027] Chr11:118507579 [GRCh38]
Chr11:118378294 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.2885T>A (p.Ile962Lys) single nucleotide variant not provided [RCV001870586] Chr11:118474044 [GRCh38]
Chr11:118344759 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.6709A>G (p.Thr2237Ala) single nucleotide variant Wiedemann-Steiner syndrome [RCV002471177]|not provided [RCV001922214] Chr11:118502601 [GRCh38]
Chr11:118373316 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.11807A>G (p.Lys3936Arg) single nucleotide variant not provided [RCV001963771] Chr11:118522060 [GRCh38]
Chr11:118392775 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.1021A>C (p.Thr341Pro) single nucleotide variant not provided [RCV002035030] Chr11:118472180 [GRCh38]
Chr11:118342895 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.2318C>G (p.Pro773Arg) single nucleotide variant not provided [RCV002035094] Chr11:118473477 [GRCh38]
Chr11:118344192 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.8284G>A (p.Glu2762Lys) single nucleotide variant not provided [RCV001976836] Chr11:118504176 [GRCh38]
Chr11:118374891 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.1802C>G (p.Thr601Ser) single nucleotide variant not provided [RCV001903582] Chr11:118472961 [GRCh38]
Chr11:118343676 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.10571C>T (p.Ser3524Phe) single nucleotide variant not provided [RCV002036180] Chr11:118506463 [GRCh38]
Chr11:118377178 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.137T>C (p.Val46Ala) single nucleotide variant not provided [RCV001982602] Chr11:118436649 [GRCh38]
Chr11:118307364 [GRCh37]
Chr11:11q23.3		 benign|uncertain significance
NM_001197104.2(KMT2A):c.854T>G (p.Phe285Cys) single nucleotide variant not provided [RCV001991278] Chr11:118472013 [GRCh38]
Chr11:118342728 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.1930C>A (p.Arg644Ser) single nucleotide variant not provided [RCV001902121] Chr11:118473089 [GRCh38]
Chr11:118343804 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.332G>A (p.Gly111Asp) single nucleotide variant not provided [RCV001887777] Chr11:118436844 [GRCh38]
Chr11:118307559 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.9739G>A (p.Ala3247Thr) single nucleotide variant not provided [RCV002001274] Chr11:118505631 [GRCh38]
Chr11:118376346 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.1492G>A (p.Val498Ile) single nucleotide variant not provided [RCV001886599] Chr11:118472651 [GRCh38]
Chr11:118343366 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.8864T>C (p.Ile2955Thr) single nucleotide variant KMT2A-related condition [RCV003426257]|not provided [RCV001944211] Chr11:118504756 [GRCh38]
Chr11:118375471 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.10580G>C (p.Arg3527Pro) single nucleotide variant not provided [RCV001980319] Chr11:118506472 [GRCh38]
Chr11:118377187 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.9343C>T (p.Pro3115Ser) single nucleotide variant not provided [RCV001924214] Chr11:118505235 [GRCh38]
Chr11:118375950 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.3980C>T (p.Pro1327Leu) single nucleotide variant not provided [RCV002038960] Chr11:118482060 [GRCh38]
Chr11:118352775 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.8741T>C (p.Val2914Ala) single nucleotide variant not provided [RCV001998113] Chr11:118504633 [GRCh38]
Chr11:118375348 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.4458A>C (p.Gly1486=) single nucleotide variant not provided [RCV001934154] Chr11:118488739 [GRCh38]
Chr11:118359454 [GRCh37]
Chr11:11q23.3		 likely benign|uncertain significance
NM_001197104.2(KMT2A):c.2033_2039del (p.Leu678fs) deletion not provided [RCV002037795] Chr11:118473192..118473198 [GRCh38]
Chr11:118343907..118343913 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.727G>A (p.Glu243Lys) single nucleotide variant not provided [RCV001963450] Chr11:118471886 [GRCh38]
Chr11:118342601 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.58G>A (p.Gly20Ser) single nucleotide variant not provided [RCV001932893] Chr11:118436570 [GRCh38]
Chr11:118307285 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.9990A>G (p.Thr3330=) single nucleotide variant not provided [RCV001942445] Chr11:118505882 [GRCh38]
Chr11:118376597 [GRCh37]
Chr11:11q23.3		 likely benign|uncertain significance
NM_001197104.2(KMT2A):c.8734A>G (p.Ser2912Gly) single nucleotide variant not provided [RCV001906406] Chr11:118504626 [GRCh38]
Chr11:118375341 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.10697G>T (p.Ser3566Ile) single nucleotide variant not provided [RCV001980717] Chr11:118506589 [GRCh38]
Chr11:118377304 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.7607G>A (p.Ser2536Asn) single nucleotide variant not provided [RCV002018344] Chr11:118503499 [GRCh38]
Chr11:118374214 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.11123G>A (p.Arg3708His) single nucleotide variant not provided [RCV001977450] Chr11:118512002 [GRCh38]
Chr11:118382717 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.4239T>A (p.Asn1413Lys) single nucleotide variant not provided [RCV002039177] Chr11:118484882 [GRCh38]
Chr11:118355597 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.9692C>T (p.Thr3231Ile) single nucleotide variant not provided [RCV001979253] Chr11:118505584 [GRCh38]
Chr11:118376299 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.7633A>T (p.Ser2545Cys) single nucleotide variant not provided [RCV002038716] Chr11:118503525 [GRCh38]
Chr11:118374240 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.211G>C (p.Gly71Arg) single nucleotide variant not provided [RCV001921524] Chr11:118436723 [GRCh38]
Chr11:118307438 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.2915C>A (p.Thr972Asn) single nucleotide variant not provided [RCV001981732] Chr11:118474074 [GRCh38]
Chr11:118344789 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.107C>T (p.Pro36Leu) single nucleotide variant not provided [RCV001887069] Chr11:118436619 [GRCh38]
Chr11:118307334 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.9077C>G (p.Thr3026Ser) single nucleotide variant not provided [RCV001997030] Chr11:118504969 [GRCh38]
Chr11:118375684 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.121C>T (p.Pro41Ser) single nucleotide variant not provided [RCV001989424] Chr11:118436633 [GRCh38]
Chr11:118307348 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.6251C>T (p.Pro2084Leu) single nucleotide variant not provided [RCV001883938] Chr11:118501079 [GRCh38]
Chr11:118371794 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.9700A>C (p.Asn3234His) single nucleotide variant not provided [RCV001962793] Chr11:118505592 [GRCh38]
Chr11:118376307 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.10786dup (p.Thr3596fs) duplication not provided [RCV001943802] Chr11:118507559..118507560 [GRCh38]
Chr11:118378274..118378275 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.9121A>G (p.Thr3041Ala) single nucleotide variant not provided [RCV001880949] Chr11:118505013 [GRCh38]
Chr11:118375728 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.9044T>C (p.Val3015Ala) single nucleotide variant not provided [RCV002050733] Chr11:118504936 [GRCh38]
Chr11:118375651 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.3935C>T (p.Thr1312Ile) single nucleotide variant not provided [RCV001955486] Chr11:118482015 [GRCh38]
Chr11:118352730 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.10045A>G (p.Met3349Val) single nucleotide variant Inborn genetic diseases [RCV002562824]|not provided [RCV001952966] Chr11:118505937 [GRCh38]
Chr11:118376652 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.9581C>T (p.Pro3194Leu) single nucleotide variant not provided [RCV001991057] Chr11:118505473 [GRCh38]
Chr11:118376188 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.10141A>G (p.Ile3381Val) single nucleotide variant not provided [RCV002014234] Chr11:118506033 [GRCh38]
Chr11:118376748 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.2825G>A (p.Gly942Glu) single nucleotide variant Inborn genetic diseases [RCV002561317]|not provided [RCV001919246] Chr11:118473984 [GRCh38]
Chr11:118344699 [GRCh37]
Chr11:11q23.3		 likely benign|uncertain significance
NM_001197104.2(KMT2A):c.6688G>A (p.Val2230Ile) single nucleotide variant not provided [RCV001989955] Chr11:118502580 [GRCh38]
Chr11:118373295 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.186_194dup (p.Ala65_Ala67dup) duplication not provided [RCV001951959] Chr11:118436691..118436692 [GRCh38]
Chr11:118307406..118307407 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.5432G>A (p.Arg1811Gln) single nucleotide variant not provided [RCV001903137] Chr11:118495768 [GRCh38]
Chr11:118366483 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.4160A>G (p.Asn1387Ser) single nucleotide variant not provided [RCV001957041] Chr11:118484256 [GRCh38]
Chr11:118354971 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.6010T>C (p.Phe2004Leu) single nucleotide variant not provided [RCV001900487] Chr11:118499351 [GRCh38]
Chr11:118370066 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.2880A>G (p.Ile960Met) single nucleotide variant not provided [RCV001919504] Chr11:118474039 [GRCh38]
Chr11:118344754 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.7532C>A (p.Ser2511Tyr) single nucleotide variant not provided [RCV001975665] Chr11:118503424 [GRCh38]
Chr11:118374139 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.2348C>T (p.Ser783Phe) single nucleotide variant not provided [RCV001920767] Chr11:118473507 [GRCh38]
Chr11:118344222 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.6252G>A (p.Pro2084=) single nucleotide variant not provided [RCV002016932] Chr11:118501080 [GRCh38]
Chr11:118371795 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.2401C>T (p.His801Tyr) single nucleotide variant Inborn genetic diseases [RCV002573492]|not provided [RCV001974337] Chr11:118473560 [GRCh38]
Chr11:118344275 [GRCh37]
Chr11:11q23.3		 likely benign|uncertain significance
NM_001197104.2(KMT2A):c.3295G>A (p.Glu1099Lys) single nucleotide variant not provided [RCV001866382] Chr11:118476943 [GRCh38]
Chr11:118347658 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.10180G>C (p.Gly3394Arg) single nucleotide variant not provided [RCV002028548] Chr11:118506072 [GRCh38]
Chr11:118376787 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.3110T>C (p.Ile1037Thr) single nucleotide variant not provided [RCV001876626] Chr11:118474269 [GRCh38]
Chr11:118344984 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.2939C>T (p.Ala980Val) single nucleotide variant not provided [RCV002015780] Chr11:118474098 [GRCh38]
Chr11:118344813 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.8592G>T (p.Gln2864His) single nucleotide variant not provided [RCV002009560] Chr11:118504484 [GRCh38]
Chr11:118375199 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.5288G>A (p.Arg1763Gln) single nucleotide variant not provided [RCV001936022] Chr11:118494397 [GRCh38]
Chr11:118365112 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.1133G>A (p.Arg378Lys) single nucleotide variant not provided [RCV002032334] Chr11:118472292 [GRCh38]
Chr11:118343007 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.7562G>A (p.Arg2521His) single nucleotide variant not provided [RCV001930411] Chr11:118503454 [GRCh38]
Chr11:118374169 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.6200G>A (p.Arg2067His) single nucleotide variant not provided [RCV001973381] Chr11:118501028 [GRCh38]
Chr11:118371743 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.5539C>T (p.Pro1847Ser) single nucleotide variant not provided [RCV002028739] Chr11:118495875 [GRCh38]
Chr11:118366590 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.4407C>A (p.Asp1469Glu) single nucleotide variant not provided [RCV001952372] Chr11:118488688 [GRCh38]
Chr11:118359403 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.1332G>C (p.Glu444Asp) single nucleotide variant not provided [RCV002048747] Chr11:118472491 [GRCh38]
Chr11:118343206 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.7556G>A (p.Arg2519Gln) single nucleotide variant Wiedemann-Steiner syndrome [RCV003483841]|not provided [RCV002050053] Chr11:118503448 [GRCh38]
Chr11:118374163 [GRCh37]
Chr11:11q23.3		 uncertain significance|not provided
NM_001197104.2(KMT2A):c.6631C>T (p.Arg2211Trp) single nucleotide variant not provided [RCV001957331] Chr11:118502523 [GRCh38]
Chr11:118373238 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.3826G>A (p.Val1276Ile) single nucleotide variant not provided [RCV001974669] Chr11:118481906 [GRCh38]
Chr11:118352621 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.10469T>C (p.Val3490Ala) single nucleotide variant not provided [RCV001991726] Chr11:118506361 [GRCh38]
Chr11:118377076 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.7946C>A (p.Pro2649Gln) single nucleotide variant not provided [RCV001975952] Chr11:118503838 [GRCh38]
Chr11:118374553 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.9665A>G (p.Lys3222Arg) single nucleotide variant not provided [RCV001972186] Chr11:118505557 [GRCh38]
Chr11:118376272 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.9683G>A (p.Arg3228His) single nucleotide variant KMT2A-related condition [RCV003408022]|not provided [RCV001956753] Chr11:118505575 [GRCh38]
Chr11:118376290 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.1565A>C (p.Glu522Ala) single nucleotide variant not provided [RCV001877163] Chr11:118472724 [GRCh38]
Chr11:118343439 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.5573G>A (p.Arg1858Gln) single nucleotide variant Inborn genetic diseases [RCV002642124]|not provided [RCV002015999] Chr11:118496276 [GRCh38]
Chr11:118366991 [GRCh37]
Chr11:11q23.3		 likely benign|uncertain significance
NM_001197104.2(KMT2A):c.5479A>C (p.Ile1827Leu) single nucleotide variant not provided [RCV001878364] Chr11:118495815 [GRCh38]
Chr11:118366530 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.412G>C (p.Gly138Arg) single nucleotide variant not provided [RCV001897536] Chr11:118436924 [GRCh38]
Chr11:118307639 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.4148T>C (p.Leu1383Pro) single nucleotide variant not provided [RCV001954108] Chr11:118484244 [GRCh38]
Chr11:118354959 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.127G>A (p.Gly43Arg) single nucleotide variant not provided [RCV001936850] Chr11:118436639 [GRCh38]
Chr11:118307354 [GRCh37]
Chr11:11q23.3		 uncertain significance
NC_000011.9:g.(?_118007742)_(119170491_?)dup duplication DPAGT1-congenital disorder of glycosylation [RCV001975773] Chr11:118007742..119170491 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.10405C>A (p.His3469Asn) single nucleotide variant not provided [RCV001934698] Chr11:118506297 [GRCh38]
Chr11:118377012 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.2467C>G (p.Pro823Ala) single nucleotide variant not provided [RCV002047907] Chr11:118473626 [GRCh38]
Chr11:118344341 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.4679C>T (p.Ala1560Val) single nucleotide variant not provided [RCV002028106] Chr11:118490232 [GRCh38]
Chr11:118360947 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.4532del (p.Gly1511fs) deletion not provided [RCV001939573] Chr11:118489842 [GRCh38]
Chr11:118360557 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.7354C>G (p.Pro2452Ala) single nucleotide variant Wiedemann-Steiner syndrome [RCV003388939]|not provided [RCV001867127] Chr11:118503246 [GRCh38]
Chr11:118373961 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.8233A>G (p.Lys2745Glu) single nucleotide variant not provided [RCV001995587] Chr11:118504125 [GRCh38]
Chr11:118374840 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.10730C>T (p.Thr3577Met) single nucleotide variant not provided [RCV001923924] Chr11:118506622 [GRCh38]
Chr11:118377337 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.89C>T (p.Ala30Val) single nucleotide variant not provided [RCV001961433] Chr11:118436601 [GRCh38]
Chr11:118307316 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.6861_6863del (p.Ser2289del) deletion not provided [RCV002019942] Chr11:118502751..118502753 [GRCh38]
Chr11:118373466..118373468 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.8120G>A (p.Arg2707Gln) single nucleotide variant not provided [RCV002029623] Chr11:118504012 [GRCh38]
Chr11:118374727 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.3681C>G (p.Asp1227Glu) single nucleotide variant not provided [RCV002030962] Chr11:118481761 [GRCh38]
Chr11:118352476 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.11231G>A (p.Arg3744Gln) single nucleotide variant not provided [RCV001936152] Chr11:118519702 [GRCh38]
Chr11:118390417 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.1616G>T (p.Gly539Val) single nucleotide variant not provided [RCV001940299] Chr11:118472775 [GRCh38]
Chr11:118343490 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.9836C>T (p.Thr3279Ile) single nucleotide variant not provided [RCV001903929] Chr11:118505728 [GRCh38]
Chr11:118376443 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.11384A>G (p.Asn3795Ser) single nucleotide variant not provided [RCV001904719] Chr11:118520019 [GRCh38]
Chr11:118390734 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.8845C>T (p.Pro2949Ser) single nucleotide variant not provided [RCV001883906] Chr11:118504737 [GRCh38]
Chr11:118375452 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.2278G>C (p.Gly760Arg) single nucleotide variant not provided [RCV001905878] Chr11:118473437 [GRCh38]
Chr11:118344152 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.6044A>G (p.Asn2015Ser) single nucleotide variant not provided [RCV002036234] Chr11:118499385 [GRCh38]
Chr11:118370100 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.6319G>A (p.Glu2107Lys) single nucleotide variant not provided [RCV001899464] Chr11:118501147 [GRCh38]
Chr11:118371862 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.10976G>A (p.Arg3659Gln) single nucleotide variant not provided [RCV001971826] Chr11:118510023 [GRCh38]
Chr11:118380738 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.7114C>T (p.His2372Tyr) single nucleotide variant not provided [RCV001899643] Chr11:118503006 [GRCh38]
Chr11:118373721 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.2833A>G (p.Ile945Val) single nucleotide variant not provided [RCV002018442] Chr11:118473992 [GRCh38]
Chr11:118344707 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.9755T>C (p.Val3252Ala) single nucleotide variant not provided [RCV001959365] Chr11:118505647 [GRCh38]
Chr11:118376362 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.4993C>T (p.Arg1665Cys) single nucleotide variant not provided [RCV001879452] Chr11:118491917 [GRCh38]
Chr11:118362632 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.8324T>C (p.Val2775Ala) single nucleotide variant not provided [RCV001997988] Chr11:118504216 [GRCh38]
Chr11:118374931 [GRCh37]
Chr11:11q23.3		 uncertain significance
NC_000011.9:g.(?_118390313)_(118550336_?)del deletion not provided [RCV001940057] Chr11:118390313..118550336 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.6894C>T (p.Asp2298=) single nucleotide variant not provided [RCV001961273] Chr11:118502786 [GRCh38]
Chr11:118373501 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.9846C>G (p.His3282Gln) single nucleotide variant KMT2A-related condition [RCV003401879]|not provided [RCV001930610] Chr11:118505738 [GRCh38]
Chr11:118376453 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.3632A>G (p.Lys1211Arg) single nucleotide variant not provided [RCV001920103] Chr11:118480236 [GRCh38]
Chr11:118350951 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.8039A>T (p.Asp2680Val) single nucleotide variant not provided [RCV001977407] Chr11:118503931 [GRCh38]
Chr11:118374646 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.7147G>A (p.Asp2383Asn) single nucleotide variant Inborn genetic diseases [RCV002549059]|not provided [RCV002049092] Chr11:118503039 [GRCh38]
Chr11:118373754 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.4819+6_4819+7insTCCA insertion not provided [RCV001951432] Chr11:118491323..118491324 [GRCh38]
Chr11:118362038..118362039 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.6760A>T (p.Asn2254Tyr) single nucleotide variant not provided [RCV001898951] Chr11:118502652 [GRCh38]
Chr11:118373367 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.11326T>G (p.Ser3776Ala) single nucleotide variant not provided [RCV001897678] Chr11:118519961 [GRCh38]
Chr11:118390676 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.4324C>T (p.His1442Tyr) single nucleotide variant not provided [RCV002049230] Chr11:118484967 [GRCh38]
Chr11:118355682 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.1351T>C (p.Phe451Leu) single nucleotide variant not provided [RCV001976495] Chr11:118472510 [GRCh38]
Chr11:118343225 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.9031C>A (p.Pro3011Thr) single nucleotide variant not provided [RCV001955376] Chr11:118504923 [GRCh38]
Chr11:118375638 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.4333-10C>G single nucleotide variant not provided [RCV001996574] Chr11:118488604 [GRCh38]
Chr11:118359319 [GRCh37]
Chr11:11q23.3		 likely benign|uncertain significance
NM_001197104.2(KMT2A):c.923C>T (p.Ser308Leu) single nucleotide variant not provided [RCV001979579] Chr11:118472082 [GRCh38]
Chr11:118342797 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.9916C>A (p.Pro3306Thr) single nucleotide variant not provided [RCV002010273] Chr11:118505808 [GRCh38]
Chr11:118376523 [GRCh37]
Chr11:11q23.3		 likely benign|uncertain significance
NM_001197104.2(KMT2A):c.853_858del (p.Phe285_Lys286del) deletion not provided [RCV001976311] Chr11:118472008..118472013 [GRCh38]
Chr11:118342723..118342728 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.5056C>T (p.Arg1686Cys) single nucleotide variant Inborn genetic diseases [RCV003289387]|not provided [RCV002013996] Chr11:118493108 [GRCh38]
Chr11:118363823 [GRCh37]
Chr11:11q23.3		 likely benign|uncertain significance
NM_001197104.2(KMT2A):c.2298G>C (p.Glu766Asp) single nucleotide variant not provided [RCV002015997] Chr11:118473457 [GRCh38]
Chr11:118344172 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.1672T>G (p.Ser558Ala) single nucleotide variant KMT2A-related condition [RCV003893062]|not provided [RCV002033926] Chr11:118472831 [GRCh38]
Chr11:118343546 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.203G>A (p.Gly68Glu) single nucleotide variant not provided [RCV001981211] Chr11:118436715 [GRCh38]
Chr11:118307430 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.5675G>A (p.Arg1892His) single nucleotide variant not provided [RCV002019405] Chr11:118497946 [GRCh38]
Chr11:118368661 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.991C>G (p.Arg331Gly) single nucleotide variant not provided [RCV001939167] Chr11:118472150 [GRCh38]
Chr11:118342865 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.1031A>G (p.Asp344Gly) single nucleotide variant not provided [RCV001980876] Chr11:118472190 [GRCh38]
Chr11:118342905 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.7804A>G (p.Met2602Val) single nucleotide variant not provided [RCV001885782] Chr11:118503696 [GRCh38]
Chr11:118374411 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.10297C>A (p.Pro3433Thr) single nucleotide variant Inborn genetic diseases [RCV002555230]|not provided [RCV001884975] Chr11:118506189 [GRCh38]
Chr11:118376904 [GRCh37]
Chr11:11q23.3		 likely benign|uncertain significance
NM_001197104.2(KMT2A):c.7654C>A (p.Gln2552Lys) single nucleotide variant not provided [RCV001961456] Chr11:118503546 [GRCh38]
Chr11:118374261 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.7381G>A (p.Gly2461Arg) single nucleotide variant not provided [RCV001926255] Chr11:118503273 [GRCh38]
Chr11:118373988 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.6706G>A (p.Ala2236Thr) single nucleotide variant not provided [RCV001923637] Chr11:118502598 [GRCh38]
Chr11:118373313 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.10846G>C (p.Val3616Leu) single nucleotide variant not provided [RCV001924898] Chr11:118509146 [GRCh38]
Chr11:118379861 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.9668A>G (p.Lys3223Arg) single nucleotide variant not provided [RCV001907033] Chr11:118505560 [GRCh38]
Chr11:118376275 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.6290C>A (p.Thr2097Asn) single nucleotide variant not provided [RCV002036243] Chr11:118501118 [GRCh38]
Chr11:118371833 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.3833C>A (p.Ala1278Asp) single nucleotide variant not provided [RCV001886019] Chr11:118481913 [GRCh38]
Chr11:118352628 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.8309T>C (p.Val2770Ala) single nucleotide variant not provided [RCV001918441] Chr11:118504201 [GRCh38]
Chr11:118374916 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.1406C>T (p.Ser469Phe) single nucleotide variant not provided [RCV002013124] Chr11:118472565 [GRCh38]
Chr11:118343280 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.7070C>T (p.Pro2357Leu) single nucleotide variant not provided [RCV001919315] Chr11:118502962 [GRCh38]
Chr11:118373677 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.3830C>T (p.Ser1277Leu) single nucleotide variant Inborn genetic diseases [RCV002548126]|not provided [RCV002016312] Chr11:118481910 [GRCh38]
Chr11:118352625 [GRCh37]
Chr11:11q23.3		 likely benign|uncertain significance
NM_001197104.2(KMT2A):c.10724A>C (p.Gln3575Pro) single nucleotide variant not provided [RCV002011482] Chr11:118506616 [GRCh38]
Chr11:118377331 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.11903G>A (p.Arg3968Gln) single nucleotide variant not provided [RCV001918413] Chr11:118522156 [GRCh38]
Chr11:118392871 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.4696+6C>A single nucleotide variant KMT2A-related condition [RCV003958440]|not provided [RCV001990071] Chr11:118490255 [GRCh38]
Chr11:118360970 [GRCh37]
Chr11:11q23.3		 likely benign|uncertain significance
NM_001197104.2(KMT2A):c.10350C>G (p.Asp3450Glu) single nucleotide variant not provided [RCV001934896] Chr11:118506242 [GRCh38]
Chr11:118376957 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.10691G>A (p.Arg3564Gln) single nucleotide variant not provided [RCV001952112] Chr11:118506583 [GRCh38]
Chr11:118377298 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.172C>G (p.Pro58Ala) single nucleotide variant not provided [RCV002016616] Chr11:118436684 [GRCh38]
Chr11:118307399 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.3410G>A (p.Arg1137Lys) single nucleotide variant not provided [RCV001930300] Chr11:118478042 [GRCh38]
Chr11:118348757 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.209G>A (p.Ser70Asn) single nucleotide variant Wiedemann-Steiner syndrome [RCV002272514]|not provided [RCV001877370]|not specified [RCV003487817] Chr11:118436721 [GRCh38]
Chr11:118307436 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.9258G>T (p.Gln3086His) single nucleotide variant not provided [RCV001935976] Chr11:118505150 [GRCh38]
Chr11:118375865 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.412G>T (p.Gly138Trp) single nucleotide variant not provided [RCV002016454] Chr11:118436924 [GRCh38]
Chr11:118307639 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.10505_10531del (p.Lys3502_Ala3510del) deletion not provided [RCV001919706] Chr11:118506395..118506421 [GRCh38]
Chr11:118377110..118377136 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.5755G>A (p.Gly1919Arg) single nucleotide variant not provided [RCV001990335] Chr11:118498026 [GRCh38]
Chr11:118368741 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.8041G>A (p.Asp2681Asn) single nucleotide variant See cases [RCV002252728]|not provided [RCV001921673] Chr11:118503933 [GRCh38]
Chr11:118374648 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.2221T>A (p.Phe741Ile) single nucleotide variant not provided [RCV001977846] Chr11:118473380 [GRCh38]
Chr11:118344095 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.6872T>C (p.Met2291Thr) single nucleotide variant not provided [RCV001904205] Chr11:118502764 [GRCh38]
Chr11:118373479 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.11071+2T>C single nucleotide variant not provided [RCV002029293] Chr11:118510120 [GRCh38]
Chr11:118380835 [GRCh37]
Chr11:11q23.3		 likely pathogenic
NM_001197104.2(KMT2A):c.1592A>G (p.Tyr531Cys) single nucleotide variant not provided [RCV001921787] Chr11:118472751 [GRCh38]
Chr11:118343466 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.6737T>C (p.Val2246Ala) single nucleotide variant not provided [RCV001936226] Chr11:118502629 [GRCh38]
Chr11:118373344 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.82G>T (p.Gly28Trp) single nucleotide variant not provided [RCV001902146]|not specified [RCV003388056] Chr11:118436594 [GRCh38]
Chr11:118307309 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.4733A>G (p.Asp1578Gly) single nucleotide variant not provided [RCV001932582] Chr11:118491232 [GRCh38]
Chr11:118361947 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.8782C>A (p.Leu2928Ile) single nucleotide variant not provided [RCV001900258] Chr11:118504674 [GRCh38]
Chr11:118375389 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.10400G>A (p.Gly3467Glu) single nucleotide variant not provided [RCV001881604] Chr11:118506292 [GRCh38]
Chr11:118377007 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.2572C>G (p.Leu858Val) single nucleotide variant not provided [RCV002010110] Chr11:118473731 [GRCh38]
Chr11:118344446 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.10996A>C (p.Lys3666Gln) single nucleotide variant not provided [RCV001877822] Chr11:118510043 [GRCh38]
Chr11:118380758 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.5425C>A (p.Gln1809Lys) single nucleotide variant not provided [RCV002031233] Chr11:118495761 [GRCh38]
Chr11:118366476 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.713G>A (p.Gly238Glu) single nucleotide variant not provided [RCV002017223] Chr11:118471872 [GRCh38]
Chr11:118342587 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.6973A>G (p.Asn2325Asp) single nucleotide variant not provided [RCV001953266] Chr11:118502865 [GRCh38]
Chr11:118373580 [GRCh37]
Chr11:11q23.3		 uncertain significance
NC_000011.9:g.(?_118373093)_(118392887_?)dup duplication not provided [RCV001953281] Chr11:118373093..118392887 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.1706C>T (p.Pro569Leu) single nucleotide variant not provided [RCV002048376] Chr11:118472865 [GRCh38]
Chr11:118343580 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.8600G>T (p.Gly2867Val) single nucleotide variant not provided [RCV001878730] Chr11:118504492 [GRCh38]
Chr11:118375207 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.3541G>C (p.Gly1181Arg) single nucleotide variant not provided [RCV001979438] Chr11:118478173 [GRCh38]
Chr11:118348888 [GRCh37]
Chr11:11q23.3		 likely pathogenic
NM_001197104.2(KMT2A):c.3295G>C (p.Glu1099Gln) single nucleotide variant not provided [RCV002012982] Chr11:118476943 [GRCh38]
Chr11:118347658 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.515C>G (p.Pro172Arg) single nucleotide variant not provided [RCV001937884] Chr11:118471674 [GRCh38]
Chr11:118342389 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.864G>C (p.Gly288=) single nucleotide variant not provided [RCV002148946] Chr11:118472023 [GRCh38]
Chr11:118342738 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.1451T>C (p.Val484Ala) single nucleotide variant not provided [RCV002165061] Chr11:118472610 [GRCh38]
Chr11:118343325 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.5031C>T (p.Pro1677=) single nucleotide variant not provided [RCV002107322] Chr11:118493083 [GRCh38]
Chr11:118363798 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.4777C>A (p.Arg1593Ser) single nucleotide variant not provided [RCV002108314] Chr11:118491276 [GRCh38]
Chr11:118361991 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.3798C>T (p.Pro1266=) single nucleotide variant not provided [RCV002088541] Chr11:118481878 [GRCh38]
Chr11:118352593 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.10901-18_10901-15del microsatellite not provided [RCV002190355] Chr11:118509926..118509929 [GRCh38]
Chr11:118380641..118380644 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.3936A>T (p.Thr1312=) single nucleotide variant not provided [RCV002071671] Chr11:118482016 [GRCh38]
Chr11:118352731 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.4521T>C (p.Pro1507=) single nucleotide variant not provided [RCV002207024] Chr11:118489833 [GRCh38]
Chr11:118360548 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.11154C>T (p.Asn3718=) single nucleotide variant not provided [RCV002208630] Chr11:118519625 [GRCh38]
Chr11:118390340 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.5928T>C (p.Tyr1976=) single nucleotide variant not provided [RCV002112062] Chr11:118498495 [GRCh38]
Chr11:118369210 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.6960G>A (p.Glu2320=) single nucleotide variant not provided [RCV002189383] Chr11:118502852 [GRCh38]
Chr11:118373567 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.6288G>C (p.Arg2096Ser) single nucleotide variant not provided [RCV002207560] Chr11:118501116 [GRCh38]
Chr11:118371831 [GRCh37]
Chr11:11q23.3		 benign
NM_001197104.2(KMT2A):c.522A>G (p.Lys174=) single nucleotide variant not provided [RCV002190575] Chr11:118471681 [GRCh38]
Chr11:118342396 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.9177G>A (p.Pro3059=) single nucleotide variant not provided [RCV002168068] Chr11:118505069 [GRCh38]
Chr11:118375784 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.6647T>C (p.Met2216Thr) single nucleotide variant not provided [RCV002071834] Chr11:118502539 [GRCh38]
Chr11:118373254 [GRCh37]
Chr11:11q23.3		 benign
NM_001197104.2(KMT2A):c.2127T>G (p.Ser709=) single nucleotide variant not provided [RCV002106133] Chr11:118473286 [GRCh38]
Chr11:118344001 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.11214T>G (p.Ser3738=) single nucleotide variant not provided [RCV002166847] Chr11:118519685 [GRCh38]
Chr11:118390400 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.3228T>C (p.Ala1076=) single nucleotide variant not provided [RCV002107429] Chr11:118476876 [GRCh38]
Chr11:118347591 [GRCh37]
Chr11:11q23.3		 benign
NM_001197104.2(KMT2A):c.11548A>C (p.Arg3850=) single nucleotide variant not provided [RCV002089730] Chr11:118521322 [GRCh38]
Chr11:118392037 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.8157G>A (p.Gln2719=) single nucleotide variant not provided [RCV002205385] Chr11:118504049 [GRCh38]
Chr11:118374764 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.8145A>C (p.Pro2715=) single nucleotide variant not provided [RCV002074829] Chr11:118504037 [GRCh38]
Chr11:118374752 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.4329A>G (p.Val1443=) single nucleotide variant not provided [RCV002147634] Chr11:118484972 [GRCh38]
Chr11:118355687 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.207C>T (p.Ser69=) single nucleotide variant not provided [RCV002087900] Chr11:118436719 [GRCh38]
Chr11:118307434 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.7772A>C (p.Tyr2591Ser) single nucleotide variant Inborn genetic diseases [RCV003250467]|not provided [RCV002211203] Chr11:118503664 [GRCh38]
Chr11:118374379 [GRCh37]
Chr11:11q23.3		 likely benign|uncertain significance
NM_001197104.2(KMT2A):c.2016C>T (p.Thr672=) single nucleotide variant not provided [RCV002208484] Chr11:118473175 [GRCh38]
Chr11:118343890 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.6505+7G>A single nucleotide variant not provided [RCV002129974] Chr11:118501864 [GRCh38]
Chr11:118372579 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.8202A>G (p.Thr2734=) single nucleotide variant not provided [RCV002126386] Chr11:118504094 [GRCh38]
Chr11:118374809 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.4485G>A (p.Leu1495=) single nucleotide variant not provided [RCV002206652] Chr11:118489797 [GRCh38]
Chr11:118360512 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.3639G>A (p.Val1213=) single nucleotide variant not provided [RCV002125422] Chr11:118481719 [GRCh38]
Chr11:118352434 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.4333-4A>G single nucleotide variant not provided [RCV002073671] Chr11:118488610 [GRCh38]
Chr11:118359325 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.4671T>C (p.His1557=) single nucleotide variant not provided [RCV002110130] Chr11:118490224 [GRCh38]
Chr11:118360939 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.8784A>G (p.Leu2928=) single nucleotide variant not provided [RCV002125253] Chr11:118504676 [GRCh38]
Chr11:118375391 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.11112A>G (p.Arg3704=) single nucleotide variant not provided [RCV002206558] Chr11:118511991 [GRCh38]
Chr11:118382706 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.11644-6G>C single nucleotide variant not provided [RCV002165904] Chr11:118521891 [GRCh38]
Chr11:118392606 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.6696C>G (p.Thr2232=) single nucleotide variant not provided [RCV002091727] Chr11:118502588 [GRCh38]
Chr11:118373303 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.5289+15T>C single nucleotide variant not provided [RCV002210656] Chr11:118494413 [GRCh38]
Chr11:118365128 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.4923A>G (p.Lys1641=) single nucleotide variant not provided [RCV002110289] Chr11:118491847 [GRCh38]
Chr11:118362562 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.1716G>T (p.Leu572=) single nucleotide variant not provided [RCV002210845] Chr11:118472875 [GRCh38]
Chr11:118343590 [GRCh37]
Chr11:11q23.3		 benign
NM_001197104.2(KMT2A):c.5803-13T>C single nucleotide variant not provided [RCV002192618] Chr11:118498357 [GRCh38]
Chr11:118369072 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.11322-13C>T single nucleotide variant not provided [RCV002192622] Chr11:118519944 [GRCh38]
Chr11:118390659 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.11593G>A (p.Val3865Ile) single nucleotide variant Inborn genetic diseases [RCV003081102]|not provided [RCV002190860] Chr11:118521367 [GRCh38]
Chr11:118392082 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.9357G>A (p.Glu3119=) single nucleotide variant not provided [RCV002209344] Chr11:118505249 [GRCh38]
Chr11:118375964 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.6989del (p.Gly2330fs) deletion Wiedemann-Steiner syndrome [RCV002250077] Chr11:118502880 [GRCh38]
Chr11:118373595 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.8204_8225del (p.Ala2735fs) deletion Wiedemann-Steiner syndrome [RCV002250080] Chr11:118504096..118504117 [GRCh38]
Chr11:118374811..118374832 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.4839A>G (p.Leu1613=) single nucleotide variant not provided [RCV002185857] Chr11:118491763 [GRCh38]
Chr11:118362478 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.2670A>G (p.Lys890=) single nucleotide variant not provided [RCV002205066] Chr11:118473829 [GRCh38]
Chr11:118344544 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.309G>A (p.Pro103=) single nucleotide variant not provided [RCV002106621] Chr11:118436821 [GRCh38]
Chr11:118307536 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.10200G>T (p.Val3400=) single nucleotide variant not provided [RCV002208888] Chr11:118506092 [GRCh38]
Chr11:118376807 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.7179C>T (p.Asn2393=) single nucleotide variant not provided [RCV002190814] Chr11:118503071 [GRCh38]
Chr11:118373786 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.680C>A (p.Thr227Asn) single nucleotide variant Inborn genetic diseases [RCV002553017]|not provided [RCV002165497] Chr11:118471839 [GRCh38]
Chr11:118342554 [GRCh37]
Chr11:11q23.3		 benign|uncertain significance
NM_001197104.2(KMT2A):c.3234C>T (p.Ala1078=) single nucleotide variant not provided [RCV002145788] Chr11:118476882 [GRCh38]
Chr11:118347597 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.7959C>T (p.Ser2653=) single nucleotide variant not provided [RCV002188128] Chr11:118503851 [GRCh38]
Chr11:118374566 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.3867A>G (p.Pro1289=) single nucleotide variant not provided [RCV002147303] Chr11:118481947 [GRCh38]
Chr11:118352662 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.3907C>G (p.Leu1303Val) single nucleotide variant not provided [RCV002089392] Chr11:118481987 [GRCh38]
Chr11:118352702 [GRCh37]
Chr11:11q23.3		 benign|likely benign
NM_001197104.2(KMT2A):c.2187A>G (p.Ser729=) single nucleotide variant not provided [RCV002086975] Chr11:118473346 [GRCh38]
Chr11:118344061 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.1257G>A (p.Ser419=) single nucleotide variant not provided [RCV002189785] Chr11:118472416 [GRCh38]
Chr11:118343131 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.5331C>T (p.Ser1777=) single nucleotide variant not provided [RCV002192016] Chr11:118494735 [GRCh38]
Chr11:118365450 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.10934dup (p.Ser3646fs) duplication Wiedemann-Steiner syndrome [RCV002071020] Chr11:118509978..118509979 [GRCh38]
Chr11:118380693..118380694 [GRCh37]
Chr11:11q23.3		 likely pathogenic
NM_001197104.2(KMT2A):c.78C>A (p.Gly26=) single nucleotide variant not provided [RCV002185328] Chr11:118436590 [GRCh38]
Chr11:118307305 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.6446G>A (p.Arg2149Gln) single nucleotide variant not provided [RCV002226125] Chr11:118501798 [GRCh38]
Chr11:118372513 [GRCh37]
Chr11:11q23.3		 likely benign|conflicting interpretations of pathogenicity
NM_001197104.2(KMT2A):c.9825G>A (p.Gly3275=) single nucleotide variant not provided [RCV002190256] Chr11:118505717 [GRCh38]
Chr11:118376432 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.7932T>C (p.Gly2644=) single nucleotide variant not provided [RCV002124353] Chr11:118503824 [GRCh38]
Chr11:118374539 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.2958_2959insGTTG (p.Lys987fs) insertion Wiedemann-Steiner syndrome [RCV002226416] Chr11:118474116..118474117 [GRCh38]
Chr11:118344831..118344832 [GRCh37]
Chr11:11q23.3		 not provided
NM_001197104.2(KMT2A):c.795G>A (p.Gln265=) single nucleotide variant not provided [RCV002206819] Chr11:118471954 [GRCh38]
Chr11:118342669 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.7272T>C (p.Ser2424=) single nucleotide variant not provided [RCV002071534] Chr11:118503164 [GRCh38]
Chr11:118373879 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.6647T>A (p.Met2216Lys) single nucleotide variant not provided [RCV002105478] Chr11:118502539 [GRCh38]
Chr11:118373254 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.2511T>C (p.Pro837=) single nucleotide variant not provided [RCV002186666] Chr11:118473670 [GRCh38]
Chr11:118344385 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.369C>T (p.Gly123=) single nucleotide variant not provided [RCV002152941] Chr11:118436881 [GRCh38]
Chr11:118307596 [GRCh37]
Chr11:11q23.3		 benign
NM_001197104.2(KMT2A):c.9813G>C (p.Leu3271=) single nucleotide variant not provided [RCV002149816] Chr11:118505705 [GRCh38]
Chr11:118376420 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.10182G>A (p.Gly3394=) single nucleotide variant KMT2A-related condition [RCV003913517]|not provided [RCV002072681] Chr11:118506074 [GRCh38]
Chr11:118376789 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.5363+8A>T single nucleotide variant not provided [RCV002191432] Chr11:118494775 [GRCh38]
Chr11:118365490 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.168C>T (p.Ser56=) single nucleotide variant not provided [RCV002153034] Chr11:118436680 [GRCh38]
Chr11:118307395 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.5289+11T>C single nucleotide variant not provided [RCV002107208] Chr11:118494409 [GRCh38]
Chr11:118365124 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.3156+15C>A single nucleotide variant not provided [RCV002127644] Chr11:118474330 [GRCh38]
Chr11:118345045 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.10835+17G>C single nucleotide variant not provided [RCV002152524] Chr11:118507626 [GRCh38]
Chr11:118378341 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.1920A>G (p.Glu640=) single nucleotide variant not provided [RCV002093816] Chr11:118473079 [GRCh38]
Chr11:118343794 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.1519C>T (p.Pro507Ser) single nucleotide variant not provided [RCV002212421] Chr11:118472678 [GRCh38]
Chr11:118343393 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.4957G>A (p.Ala1653Thr) single nucleotide variant not provided [RCV002213589] Chr11:118491881 [GRCh38]
Chr11:118362596 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.1628C>G (p.Thr543Arg) single nucleotide variant not provided [RCV002116608] Chr11:118472787 [GRCh38]
Chr11:118343502 [GRCh37]
Chr11:11q23.3		 benign
NM_001197104.2(KMT2A):c.309G>C (p.Pro103=) single nucleotide variant not provided [RCV002135172] Chr11:118436821 [GRCh38]
Chr11:118307536 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.4576-17C>G single nucleotide variant not provided [RCV002195157] Chr11:118490112 [GRCh38]
Chr11:118360827 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.2040G>T (p.Ser680=) single nucleotide variant not provided [RCV002078630] Chr11:118473199 [GRCh38]
Chr11:118343914 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.9930A>G (p.Gly3310=) single nucleotide variant not provided [RCV002193549] Chr11:118505822 [GRCh38]
Chr11:118376537 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.10023C>T (p.Ser3341=) single nucleotide variant not provided [RCV002171127] Chr11:118505915 [GRCh38]
Chr11:118376630 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.4218+3A>G single nucleotide variant not provided [RCV002223645] Chr11:118484317 [GRCh38]
Chr11:118355032 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.7218G>A (p.Lys2406=) single nucleotide variant not provided [RCV002115033] Chr11:118503110 [GRCh38]
Chr11:118373825 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.11820A>G (p.Gly3940=) single nucleotide variant not provided [RCV002149985] Chr11:118522073 [GRCh38]
Chr11:118392788 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.6813G>A (p.Arg2271=) single nucleotide variant not provided [RCV002079828] Chr11:118502705 [GRCh38]
Chr11:118373420 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.426C>T (p.Ser142=) single nucleotide variant not provided [RCV002195051] Chr11:118436938 [GRCh38]
Chr11:118307653 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.664A>C (p.Arg222=) single nucleotide variant not provided [RCV002087142] Chr11:118471823 [GRCh38]
Chr11:118342538 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.4933A>G (p.Ile1645Val) single nucleotide variant Wiedemann-Steiner syndrome [RCV003487023]|not provided [RCV002126602] Chr11:118491857 [GRCh38]
Chr11:118362572 [GRCh37]
Chr11:11q23.3		 likely benign|uncertain significance
NM_001197104.2(KMT2A):c.6844C>T (p.His2282Tyr) single nucleotide variant not provided [RCV002131731] Chr11:118502736 [GRCh38]
Chr11:118373451 [GRCh37]
Chr11:11q23.3		 benign
NM_001197104.2(KMT2A):c.2046C>T (p.Leu682=) single nucleotide variant not provided [RCV002196988] Chr11:118473205 [GRCh38]
Chr11:118343920 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.11904G>A (p.Arg3968=) single nucleotide variant not provided [RCV002097071] Chr11:118522157 [GRCh38]
Chr11:118392872 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.11513+15C>G single nucleotide variant not provided [RCV002171581] Chr11:118520900 [GRCh38]
Chr11:118391615 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.4721A>G (p.Lys1574Arg) single nucleotide variant not provided [RCV002079899] Chr11:118491220 [GRCh38]
Chr11:118361935 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.7240T>A (p.Ser2414Thr) single nucleotide variant KMT2A-related condition [RCV003895971]|not provided [RCV002148661] Chr11:118503132 [GRCh38]
Chr11:118373847 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.2420G>A (p.Gly807Glu) single nucleotide variant not provided [RCV002115705] Chr11:118473579 [GRCh38]
Chr11:118344294 [GRCh37]
Chr11:11q23.3		 benign
NM_001197104.2(KMT2A):c.2759A>G (p.Asp920Gly) single nucleotide variant not provided [RCV002097672] Chr11:118473918 [GRCh38]
Chr11:118344633 [GRCh37]
Chr11:11q23.3		 benign
NM_001197104.2(KMT2A):c.10731G>A (p.Thr3577=) single nucleotide variant not provided [RCV002205805] Chr11:118506623 [GRCh38]
Chr11:118377338 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.5139A>C (p.Gly1713=) single nucleotide variant not provided [RCV002152815] Chr11:118493191 [GRCh38]
Chr11:118363906 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.4333-17C>A single nucleotide variant not provided [RCV002212260] Chr11:118488597 [GRCh38]
Chr11:118359312 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.9840A>G (p.Ser3280=) single nucleotide variant not provided [RCV002170621] Chr11:118505732 [GRCh38]
Chr11:118376447 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.5565T>C (p.Asp1855=) single nucleotide variant not provided [RCV002196567] Chr11:118496268 [GRCh38]
Chr11:118366983 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.4569A>G (p.Lys1523=) single nucleotide variant not provided [RCV002080044] Chr11:118489881 [GRCh38]
Chr11:118360596 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.10602G>A (p.Pro3534=) single nucleotide variant not provided [RCV002207456] Chr11:118506494 [GRCh38]
Chr11:118377209 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.6614C>T (p.Pro2205Leu) single nucleotide variant not provided [RCV002193684] Chr11:118502506 [GRCh38]
Chr11:118373221 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.6295_6319+13dup duplication not provided [RCV002078056] Chr11:118501121..118501122 [GRCh38]
Chr11:118371836..118371837 [GRCh37]
Chr11:11q23.3		 benign
NM_001197104.2(KMT2A):c.6650G>A (p.Arg2217Lys) single nucleotide variant Wiedemann-Steiner syndrome [RCV002254770]|not provided [RCV002132375] Chr11:118502542 [GRCh38]
Chr11:118373257 [GRCh37]
Chr11:11q23.3		 benign|uncertain significance
NM_001197104.2(KMT2A):c.9584C>T (p.Pro3195Leu) single nucleotide variant not provided [RCV002145983] Chr11:118505476 [GRCh38]
Chr11:118376191 [GRCh37]
Chr11:11q23.3		 benign
NM_001197104.2(KMT2A):c.3708C>T (p.Asn1236=) single nucleotide variant not provided [RCV002145984] Chr11:118481788 [GRCh38]
Chr11:118352503 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.1968A>G (p.Leu656=) single nucleotide variant not provided [RCV002211202] Chr11:118473127 [GRCh38]
Chr11:118343842 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.5775T>C (p.His1925=) single nucleotide variant not provided [RCV002133165] Chr11:118498046 [GRCh38]
Chr11:118368761 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.567C>T (p.Ile189=) single nucleotide variant not provided [RCV002076796] Chr11:118471726 [GRCh38]
Chr11:118342441 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.4122A>G (p.Ala1374=) single nucleotide variant not provided [RCV002076326] Chr11:118484218 [GRCh38]
Chr11:118354933 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.6213A>G (p.Thr2071=) single nucleotide variant not provided [RCV002195820] Chr11:118501041 [GRCh38]
Chr11:118371756 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.69G>C (p.Gly23=) single nucleotide variant not provided [RCV002089957] Chr11:118436581 [GRCh38]
Chr11:118307296 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.5178+11A>G single nucleotide variant not provided [RCV002195575] Chr11:118493241 [GRCh38]
Chr11:118363956 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.8181A>C (p.Thr2727=) single nucleotide variant not provided [RCV002205577] Chr11:118504073 [GRCh38]
Chr11:118374788 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.11091A>T (p.Thr3697=) single nucleotide variant not provided [RCV002091560] Chr11:118511970 [GRCh38]
Chr11:118382685 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.10458T>C (p.Phe3486=) single nucleotide variant not provided [RCV002149424] Chr11:118506350 [GRCh38]
Chr11:118377065 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.11769T>C (p.Ile3923=) single nucleotide variant not provided [RCV002092917] Chr11:118522022 [GRCh38]
Chr11:118392737 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.11644-15C>T single nucleotide variant not provided [RCV002116442] Chr11:118521882 [GRCh38]
Chr11:118392597 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.5178+17A>G single nucleotide variant not provided [RCV002187528] Chr11:118493247 [GRCh38]
Chr11:118363962 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.2790A>C (p.Ala930=) single nucleotide variant not provided [RCV002167895] Chr11:118473949 [GRCh38]
Chr11:118344664 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.5778G>A (p.Met1926Ile) single nucleotide variant not provided [RCV002132058] Chr11:118498049 [GRCh38]
Chr11:118368764 [GRCh37]
Chr11:11q23.3		 benign
NM_001197104.2(KMT2A):c.8214G>A (p.Arg2738=) single nucleotide variant KMT2A-related condition [RCV003970931]|not provided [RCV002132276] Chr11:118504106 [GRCh38]
Chr11:118374821 [GRCh37]
Chr11:11q23.3		 benign|likely benign
NM_001197104.2(KMT2A):c.5664+18C>T single nucleotide variant not provided [RCV002213051] Chr11:118496385 [GRCh38]
Chr11:118367100 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.4012+13G>C single nucleotide variant not provided [RCV002165085] Chr11:118482105 [GRCh38]
Chr11:118352820 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.6698_6699delinsTT (p.Thr2233Ile) indel not provided [RCV002111803] Chr11:118502590..118502591 [GRCh38]
Chr11:118373305..118373306 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.3981C>G (p.Pro1327=) single nucleotide variant not provided [RCV002196849] Chr11:118482061 [GRCh38]
Chr11:118352776 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.9848G>A (p.Arg3283Gln) single nucleotide variant not provided [RCV002149734] Chr11:118505740 [GRCh38]
Chr11:118376455 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.7398G>A (p.Glu2466=) single nucleotide variant not provided [RCV002077395] Chr11:118503290 [GRCh38]
Chr11:118374005 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.8196T>C (p.Ser2732=) single nucleotide variant not provided [RCV002152057] Chr11:118504088 [GRCh38]
Chr11:118374803 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.5802+7C>A single nucleotide variant not provided [RCV002215794] Chr11:118498080 [GRCh38]
Chr11:118368795 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.8787G>A (p.Glu2929=) single nucleotide variant not provided [RCV002134804] Chr11:118504679 [GRCh38]
Chr11:118375394 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.4596C>G (p.Arg1532=) single nucleotide variant not provided [RCV002171043] Chr11:118490149 [GRCh38]
Chr11:118360864 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.3843T>C (p.Pro1281=) single nucleotide variant not provided [RCV002131772] Chr11:118481923 [GRCh38]
Chr11:118352638 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.1845G>A (p.Pro615=) single nucleotide variant not provided [RCV002153405] Chr11:118473004 [GRCh38]
Chr11:118343719 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.10257T>C (p.Ser3419=) single nucleotide variant not provided [RCV002113282] Chr11:118506149 [GRCh38]
Chr11:118376864 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.8229T>A (p.Ile2743=) single nucleotide variant not provided [RCV002150839] Chr11:118504121 [GRCh38]
Chr11:118374836 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.5892C>T (p.Ala1964=) single nucleotide variant not provided [RCV002203199] Chr11:118498459 [GRCh38]
Chr11:118369174 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.2985A>G (p.Ser995=) single nucleotide variant not provided [RCV002135382] Chr11:118474144 [GRCh38]
Chr11:118344859 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.135G>A (p.Pro45=) single nucleotide variant KMT2A-related condition [RCV003893195]|Wiedemann-Steiner syndrome [RCV002486833]|not provided [RCV002220307] Chr11:118436647 [GRCh38]
Chr11:118307362 [GRCh37]
Chr11:11q23.3		 benign|likely benign
NM_001197104.2(KMT2A):c.10754+16A>G single nucleotide variant not provided [RCV002201590] Chr11:118506662 [GRCh38]
Chr11:118377377 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.5682A>T (p.Leu1894=) single nucleotide variant not provided [RCV002216474] Chr11:118497953 [GRCh38]
Chr11:118368668 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.1560A>G (p.Glu520=) single nucleotide variant not provided [RCV002159687] Chr11:118472719 [GRCh38]
Chr11:118343434 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.5871T>C (p.Tyr1957=) single nucleotide variant not provided [RCV002175414] Chr11:118498438 [GRCh38]
Chr11:118369153 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.7990del (p.Ala2664fs) deletion Wiedemann-Steiner syndrome [RCV002226851] Chr11:118503882 [GRCh38]
Chr11:118374597 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.393C>G (p.Ala131=) single nucleotide variant not provided [RCV002137472] Chr11:118436905 [GRCh38]
Chr11:118307620 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.9402T>C (p.Leu3134=) single nucleotide variant not provided [RCV002102054] Chr11:118505294 [GRCh38]
Chr11:118376009 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.3456G>A (p.Ser1152=) single nucleotide variant not provided [RCV002135685] Chr11:118478088 [GRCh38]
Chr11:118348803 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.9191A>G (p.Asn3064Ser) single nucleotide variant not provided [RCV002179388] Chr11:118505083 [GRCh38]
Chr11:118375798 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.6158+9C>T single nucleotide variant Wiedemann-Steiner syndrome [RCV002494413]|not provided [RCV002121598] Chr11:118499922 [GRCh38]
Chr11:118370637 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.1335T>C (p.Ser445=) single nucleotide variant not provided [RCV002179652] Chr11:118472494 [GRCh38]
Chr11:118343209 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.8034T>C (p.Asp2678=) single nucleotide variant not provided [RCV002160215] Chr11:118503926 [GRCh38]
Chr11:118374641 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.9966A>G (p.Ile3322Met) single nucleotide variant not provided [RCV002135969] Chr11:118505858 [GRCh38]
Chr11:118376573 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.10313C>T (p.Thr3438Met) single nucleotide variant not provided [RCV002137935] Chr11:118506205 [GRCh38]
Chr11:118376920 [GRCh37]
Chr11:11q23.3		 benign
NM_001197104.2(KMT2A):c.3722G>C (p.Ser1241Thr) single nucleotide variant KMT2A-related condition [RCV003418365]|not provided [RCV002202536] Chr11:118481802 [GRCh38]
Chr11:118352517 [GRCh37]
Chr11:11q23.3		 likely benign|uncertain significance
NM_001197104.2(KMT2A):c.3799G>A (p.Val1267Ile) single nucleotide variant not provided [RCV002204267] Chr11:118481879 [GRCh38]
Chr11:118352594 [GRCh37]
Chr11:11q23.3		 benign
NM_001197104.2(KMT2A):c.4314C>A (p.Ala1438=) single nucleotide variant not provided [RCV002176307] Chr11:118484957 [GRCh38]
Chr11:118355672 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.9342A>C (p.Thr3114=) single nucleotide variant Wiedemann-Steiner syndrome [RCV002500433]|not provided [RCV002198925] Chr11:118505234 [GRCh38]
Chr11:118375949 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.4785C>G (p.Val1595=) single nucleotide variant not provided [RCV002180537] Chr11:118491284 [GRCh38]
Chr11:118361999 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.4767A>G (p.Gly1589=) single nucleotide variant not provided [RCV002164778] Chr11:118491266 [GRCh38]
Chr11:118361981 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.3477C>T (p.Pro1159=) single nucleotide variant not provided [RCV002119365] Chr11:118478109 [GRCh38]
Chr11:118348824 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.8397C>T (p.Ser2799=) single nucleotide variant not provided [RCV002101811] Chr11:118504289 [GRCh38]
Chr11:118375004 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.7228A>G (p.Met2410Val) single nucleotide variant Inborn genetic diseases [RCV003161516]|not provided [RCV002117590] Chr11:118503120 [GRCh38]
Chr11:118373835 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.642T>C (p.Asp214=) single nucleotide variant not provided [RCV002121501] Chr11:118471801 [GRCh38]
Chr11:118342516 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.8691T>C (p.Phe2897=) single nucleotide variant not provided [RCV002203731] Chr11:118504583 [GRCh38]
Chr11:118375298 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.4545C>T (p.Pro1515=) single nucleotide variant not provided [RCV002163300] Chr11:118489857 [GRCh38]
Chr11:118360572 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.8697A>G (p.Val2899=) single nucleotide variant Wiedemann-Steiner syndrome [RCV002486971]|not provided [RCV002154191] Chr11:118504589 [GRCh38]
Chr11:118375304 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.3777T>C (p.Ser1259=) single nucleotide variant not provided [RCV002216931] Chr11:118481857 [GRCh38]
Chr11:118352572 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.1272C>T (p.Thr424=) single nucleotide variant KMT2A-related condition [RCV003913577]|not provided [RCV002200116] Chr11:118472431 [GRCh38]
Chr11:118343146 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.10233A>G (p.Gln3411=) single nucleotide variant not provided [RCV002100489] Chr11:118506125 [GRCh38]
Chr11:118376840 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.6111A>G (p.Leu2037=) single nucleotide variant not provided [RCV002156586] Chr11:118499866 [GRCh38]
Chr11:118370581 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.1512C>A (p.Ser504Arg) single nucleotide variant Wiedemann-Steiner syndrome [RCV002243594]|not provided [RCV003101313] Chr11:118472671 [GRCh38]
Chr11:118343386 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.6357del (p.Ile2119_Ile2120insTer) deletion Wiedemann-Steiner syndrome [RCV002243595] Chr11:118501708 [GRCh38]
Chr11:118372423 [GRCh37]
Chr11:11q23.3		 likely pathogenic
NM_001197104.2(KMT2A):c.3520T>C (p.Leu1174=) single nucleotide variant not provided [RCV002204572] Chr11:118478152 [GRCh38]
Chr11:118348867 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.4968T>C (p.Asn1656=) single nucleotide variant not provided [RCV002183758] Chr11:118491892 [GRCh38]
Chr11:118362607 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.2865T>C (p.Ala955=) single nucleotide variant not provided [RCV002183849] Chr11:118474024 [GRCh38]
Chr11:118344739 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.4207_4218+22dup duplication not provided [RCV002183857] Chr11:118484301..118484302 [GRCh38]
Chr11:118355016..118355017 [GRCh37]
Chr11:11q23.3		 benign
NM_001197104.2(KMT2A):c.5004+17T>G single nucleotide variant not provided [RCV002118742] Chr11:118491945 [GRCh38]
Chr11:118362660 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.4424G>A (p.Cys1475Tyr) single nucleotide variant not provided [RCV002164532] Chr11:118488705 [GRCh38]
Chr11:118359420 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.10845T>C (p.Ala3615=) single nucleotide variant not provided [RCV002159118] Chr11:118509145 [GRCh38]
Chr11:118379860 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.3942G>A (p.Pro1314=) single nucleotide variant not provided [RCV002201211] Chr11:118482022 [GRCh38]
Chr11:118352737 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.1452T>G (p.Val484=) single nucleotide variant not provided [RCV002178831] Chr11:118472611 [GRCh38]
Chr11:118343326 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.4218+7G>T single nucleotide variant not provided [RCV002160666] Chr11:118484321 [GRCh38]
Chr11:118355036 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.2319G>A (p.Pro773=) single nucleotide variant not provided [RCV002155791] Chr11:118473478 [GRCh38]
Chr11:118344193 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.5754C>T (p.Asp1918=) single nucleotide variant not provided [RCV002144036] Chr11:118498025 [GRCh38]
Chr11:118368740 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.11072-19T>C single nucleotide variant not provided [RCV002156045] Chr11:118511932 [GRCh38]
Chr11:118382647 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.4101G>A (p.Pro1367=) single nucleotide variant not provided [RCV002163029] Chr11:118484197 [GRCh38]
Chr11:118354912 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.502+10A>G single nucleotide variant not provided [RCV002122871] Chr11:118468854 [GRCh38]
Chr11:118339569 [GRCh37]
Chr11:11q23.3		 benign
NM_001197104.2(KMT2A):c.11586C>T (p.Ala3862=) single nucleotide variant not provided [RCV002179209] Chr11:118521360 [GRCh38]
Chr11:118392075 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.10473C>T (p.Asp3491=) single nucleotide variant not provided [RCV002144457] Chr11:118506365 [GRCh38]
Chr11:118377080 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.9675C>T (p.Pro3225=) single nucleotide variant not provided [RCV002218811] Chr11:118505567 [GRCh38]
Chr11:118376282 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.9132C>A (p.Ile3044=) single nucleotide variant not provided [RCV002102113] Chr11:118505024 [GRCh38]
Chr11:118375739 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.7083G>A (p.Ser2361=) single nucleotide variant not provided [RCV002180889] Chr11:118502975 [GRCh38]
Chr11:118373690 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.11113T>A (p.Ser3705Thr) single nucleotide variant not provided [RCV002117980] Chr11:118511992 [GRCh38]
Chr11:118382707 [GRCh37]
Chr11:11q23.3		 benign
NM_001197104.2(KMT2A):c.7464T>C (p.Asp2488=) single nucleotide variant not provided [RCV002103891] Chr11:118503356 [GRCh38]
Chr11:118374071 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.2565C>A (p.Pro855=) single nucleotide variant not provided [RCV002137944] Chr11:118473724 [GRCh38]
Chr11:118344439 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.3634+17G>T single nucleotide variant not provided [RCV002143107] Chr11:118480255 [GRCh38]
Chr11:118350970 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.1837C>T (p.Arg613Ter) single nucleotide variant Wiedemann-Steiner syndrome [RCV002222324] Chr11:118472996 [GRCh38]
Chr11:118343711 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.579A>G (p.Pro193=) single nucleotide variant not provided [RCV002120775] Chr11:118471738 [GRCh38]
Chr11:118342453 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.2529T>C (p.Ser843=) single nucleotide variant not provided [RCV002181643] Chr11:118473688 [GRCh38]
Chr11:118344403 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.1443C>T (p.Ser481=) single nucleotide variant not provided [RCV002160377] Chr11:118472602 [GRCh38]
Chr11:118343317 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.1182G>A (p.Leu394=) single nucleotide variant not provided [RCV002082888] Chr11:118472341 [GRCh38]
Chr11:118343056 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.147C>T (p.Gly49=) single nucleotide variant not provided [RCV002101427] Chr11:118436659 [GRCh38]
Chr11:118307374 [GRCh37]
Chr11:11q23.3		 benign
NM_001197104.2(KMT2A):c.4677C>T (p.Cys1559=) single nucleotide variant not provided [RCV002138788] Chr11:118490230 [GRCh38]
Chr11:118360945 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.7514C>A (p.Pro2505His) single nucleotide variant not provided [RCV002182840] Chr11:118503406 [GRCh38]
Chr11:118374121 [GRCh37]
Chr11:11q23.3		 benign|likely benign
NM_001197104.2(KMT2A):c.6033G>A (p.Arg2011=) single nucleotide variant not provided [RCV002121622] Chr11:118499374 [GRCh38]
Chr11:118370089 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.9585G>A (p.Pro3195=) single nucleotide variant not provided [RCV002140602] Chr11:118505477 [GRCh38]
Chr11:118376192 [GRCh37]
Chr11:11q23.3		 benign
NM_001197104.2(KMT2A):c.10326C>T (p.Ala3442=) single nucleotide variant not provided [RCV002203672] Chr11:118506218 [GRCh38]
Chr11:118376933 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.5665-10T>C single nucleotide variant not provided [RCV002135722] Chr11:118497926 [GRCh38]
Chr11:118368641 [GRCh37]
Chr11:11q23.3		 likely benign|conflicting interpretations of pathogenicity
NM_001197104.2(KMT2A):c.7136G>A (p.Arg2379Lys) single nucleotide variant not provided [RCV002118090] Chr11:118503028 [GRCh38]
Chr11:118373743 [GRCh37]
Chr11:11q23.3		 benign
NM_001197104.2(KMT2A):c.789G>A (p.Thr263=) single nucleotide variant not provided [RCV002183507] Chr11:118471948 [GRCh38]
Chr11:118342663 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.3801C>T (p.Val1267=) single nucleotide variant not provided [RCV002123807] Chr11:118481881 [GRCh38]
Chr11:118352596 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.105C>T (p.Val35=) single nucleotide variant not provided [RCV002123637] Chr11:118436617 [GRCh38]
Chr11:118307332 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.48C>T (p.Thr16=) single nucleotide variant not provided [RCV002160450] Chr11:118436560 [GRCh38]
Chr11:118307275 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.10267A>G (p.Ile3423Val) single nucleotide variant not provided [RCV002198841] Chr11:118506159 [GRCh38]
Chr11:118376874 [GRCh37]
Chr11:11q23.3		 benign
NM_001197104.2(KMT2A):c.10443C>T (p.Pro3481=) single nucleotide variant not provided [RCV002162599] Chr11:118506335 [GRCh38]
Chr11:118377050 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.6025T>C (p.Leu2009=) single nucleotide variant not provided [RCV002180003] Chr11:118499366 [GRCh38]
Chr11:118370081 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.9447_9450dup (p.Ser3151fs) duplication Wiedemann-Steiner syndrome [RCV002226942] Chr11:118505337..118505338 [GRCh38]
Chr11:118376052..118376053 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.9123T>C (p.Thr3041=) single nucleotide variant not provided [RCV002204201] Chr11:118505015 [GRCh38]
Chr11:118375730 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.10836-6A>T single nucleotide variant not provided [RCV002099079] Chr11:118509130 [GRCh38]
Chr11:118379845 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.6003T>C (p.Phe2001=) single nucleotide variant not provided [RCV002119046] Chr11:118499344 [GRCh38]
Chr11:118370059 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.362C>T (p.Ala121Val) single nucleotide variant not provided [RCV002221717]   uncertain significance
NM_001197104.2(KMT2A):c.2409G>C (p.Leu803=) single nucleotide variant not provided [RCV002144325] Chr11:118473568 [GRCh38]
Chr11:118344283 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.6081G>T (p.Gly2027=) single nucleotide variant KMT2A-related condition [RCV003968829]|not provided [RCV002219803] Chr11:118499836 [GRCh38]
Chr11:118370551 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.3570-14C>T single nucleotide variant not provided [RCV002201040] Chr11:118480160 [GRCh38]
Chr11:118350875 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.1677G>A (p.Ser559=) single nucleotide variant not provided [RCV002181953] Chr11:118472836 [GRCh38]
Chr11:118343551 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.7549G>A (p.Ala2517Thr) single nucleotide variant not provided [RCV003110041] Chr11:118503441 [GRCh38]
Chr11:118374156 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.7224T>C (p.Ser2408=) single nucleotide variant not provided [RCV003117979] Chr11:118503116 [GRCh38]
Chr11:118373831 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.9155A>G (p.Asn3052Ser) single nucleotide variant not provided [RCV003117980] Chr11:118505047 [GRCh38]
Chr11:118375762 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.11508C>T (p.Val3836=) single nucleotide variant not provided [RCV003113061] Chr11:118520880 [GRCh38]
Chr11:118391595 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.7536C>G (p.Ala2512=) single nucleotide variant not provided [RCV003115299] Chr11:118503428 [GRCh38]
Chr11:118374143 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.8065A>G (p.Arg2689Gly) single nucleotide variant not provided [RCV003121839] Chr11:118503957 [GRCh38]
Chr11:118374672 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.9106G>A (p.Val3036Ile) single nucleotide variant not provided [RCV003118664] Chr11:118504998 [GRCh38]
Chr11:118375713 [GRCh37]
Chr11:11q23.3		 uncertain significance
NC_000011.9:g.(?_117209303)_(120133495_?)dup duplication not provided [RCV003122151] Chr11:117209303..120133495 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.3573G>A (p.Met1191Ile) single nucleotide variant not provided [RCV003120453] Chr11:118480177 [GRCh38]
Chr11:118350892 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.10490G>A (p.Gly3497Glu) single nucleotide variant not provided [RCV003118932] Chr11:118506382 [GRCh38]
Chr11:118377097 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.11281T>C (p.Leu3761=) single nucleotide variant not provided [RCV003118987] Chr11:118519752 [GRCh38]
Chr11:118390467 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.273TTCGTC[3] (p.Ser98_Ala99insSerSer) microsatellite not provided [RCV003120003] Chr11:118436779..118436780 [GRCh38]
Chr11:118307494..118307495 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.6632G>A (p.Arg2211Gln) single nucleotide variant Wiedemann-Steiner syndrome [RCV002227800]|not provided [RCV003089226] Chr11:118502524 [GRCh38]
Chr11:118373239 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.3462del (p.Cys1155fs) deletion Wiedemann-Steiner syndrome [RCV002250076] Chr11:118478093 [GRCh38]
Chr11:118348808 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.7914T>A (p.Tyr2638Ter) single nucleotide variant Wiedemann-Steiner syndrome [RCV002250078] Chr11:118503806 [GRCh38]
Chr11:118374521 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.8766A>C (p.Glu2922Asp) single nucleotide variant not specified [RCV002271742] Chr11:118504658 [GRCh38]
Chr11:118375373 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.2929G>A (p.Gly977Ser) single nucleotide variant Wiedemann-Steiner syndrome [RCV002227707] Chr11:118474088 [GRCh38]
Chr11:118344803 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.658_662del (p.Lys220fs) deletion Wiedemann-Steiner syndrome [RCV002251038] Chr11:118471813..118471817 [GRCh38]
Chr11:118342528..118342532 [GRCh37]
Chr11:11q23.3		 likely pathogenic
NM_001197104.2(KMT2A):c.7648C>T (p.Pro2550Ser) single nucleotide variant not provided [RCV003149463] Chr11:118503540 [GRCh38]
Chr11:118374255 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.11514-2A>C single nucleotide variant Wiedemann-Steiner syndrome [RCV002251255] Chr11:118521286 [GRCh38]
Chr11:118392001 [GRCh37]
Chr11:11q23.3		 likely pathogenic
NM_001197104.2(KMT2A):c.1997G>T (p.Gly666Val) single nucleotide variant not provided [RCV003154504] Chr11:118473156 [GRCh38]
Chr11:118343871 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.6298C>T (p.His2100Tyr) single nucleotide variant not provided [RCV003129373] Chr11:118501126 [GRCh38]
Chr11:118371841 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.160C>G (p.Pro54Ala) single nucleotide variant Inborn genetic diseases [RCV003295758] Chr11:118436672 [GRCh38]
Chr11:118307387 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.1370G>C (p.Gly457Ala) single nucleotide variant not provided [RCV002275415] Chr11:118472529 [GRCh38]
Chr11:118343244 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.11428C>T (p.Arg3810Trp) single nucleotide variant not provided [RCV002265136] Chr11:118520063 [GRCh38]
Chr11:118390778 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.10064dup (p.Thr3356fs) duplication Wiedemann-Steiner syndrome [RCV002272689] Chr11:118505952..118505953 [GRCh38]
Chr11:118376667..118376668 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.265G>A (p.Ala89Thr) single nucleotide variant See cases [RCV002276256] Chr11:118436777 [GRCh38]
Chr11:118307492 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.9519_9520del (p.Gln3173_Ser3174insTer) deletion Wiedemann-Steiner syndrome [RCV002274365] Chr11:118505410..118505411 [GRCh38]
Chr11:118376125..118376126 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.171C>G (p.Pro57=) single nucleotide variant not provided [RCV003666183] Chr11:118436683 [GRCh38]
Chr11:118307398 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.5363+1G>A single nucleotide variant Wiedemann-Steiner syndrome [RCV002260580] Chr11:118494768 [GRCh38]
Chr11:118365483 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.7941_7942del (p.Ile2648fs) deletion Wiedemann-Steiner syndrome [RCV002289274] Chr11:118503832..118503833 [GRCh38]
Chr11:118374547..118374548 [GRCh37]
Chr11:11q23.3		 likely pathogenic
NM_001197104.2(KMT2A):c.8351A>G (p.Asp2784Gly) single nucleotide variant not provided [RCV002267240] Chr11:118504243 [GRCh38]
Chr11:118374958 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.8207C>A (p.Thr2736Lys) single nucleotide variant See cases [RCV002287824]|not provided [RCV003108005] Chr11:118504099 [GRCh38]
Chr11:118374814 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.226G>T (p.Gly76Trp) single nucleotide variant Wiedemann-Steiner syndrome [RCV002266712] Chr11:118436738 [GRCh38]
Chr11:118307453 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.7874G>T (p.Arg2625Leu) single nucleotide variant not provided [RCV002262368] Chr11:118503766 [GRCh38]
Chr11:118374481 [GRCh37]
Chr11:11q23.3		 likely pathogenic
NM_001197104.2(KMT2A):c.9255C>A (p.Asn3085Lys) single nucleotide variant not provided [RCV003236191] Chr11:118505147 [GRCh38]
Chr11:118375862 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.11260G>C (p.Glu3754Gln) single nucleotide variant not provided [RCV002283176] Chr11:118519731 [GRCh38]
Chr11:118390446 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.839_843del (p.Pro280fs) microsatellite not provided [RCV002281409] Chr11:118471993..118471997 [GRCh38]
Chr11:118342708..118342712 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.4433G>A (p.Arg1478His) single nucleotide variant Wiedemann-Steiner syndrome [RCV002266829]|not provided [RCV003120864] Chr11:118488714 [GRCh38]
Chr11:118359429 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.7444T>C (p.Cys2482Arg) single nucleotide variant Wiedemann-Steiner syndrome [RCV002288251]|not provided [RCV003097761] Chr11:118503336 [GRCh38]
Chr11:118374051 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.6320-1G>A single nucleotide variant Wiedemann-Steiner syndrome [RCV002288363] Chr11:118501671 [GRCh38]
Chr11:118372386 [GRCh37]
Chr11:11q23.3		 likely pathogenic
NM_001197104.2(KMT2A):c.4147C>G (p.Leu1383Val) single nucleotide variant not provided [RCV002265383] Chr11:118484243 [GRCh38]
Chr11:118354958 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.10292_10296dup (p.Pro3433fs) duplication Wiedemann-Steiner syndrome [RCV002265534] Chr11:118506183..118506184 [GRCh38]
Chr11:118376898..118376899 [GRCh37]
Chr11:11q23.3		 not provided
NM_001197104.2(KMT2A):c.1042G>T (p.Val348Phe) single nucleotide variant not provided [RCV003237063] Chr11:118472201 [GRCh38]
Chr11:118342916 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.10391G>A (p.Ser3464Asn) single nucleotide variant not provided [RCV003233138] Chr11:118506283 [GRCh38]
Chr11:118376998 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.2070G>A (p.Met690Ile) single nucleotide variant Wiedemann-Steiner syndrome [RCV002290218] Chr11:118473229 [GRCh38]
Chr11:118343944 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.11743_11746del (p.Asn3915fs) deletion not provided [RCV002290886] Chr11:118521994..118521997 [GRCh38]
Chr11:118392709..118392712 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.4760A>G (p.Gln1587Arg) single nucleotide variant Wiedemann-Steiner syndrome [RCV002291121] Chr11:118491259 [GRCh38]
Chr11:118361974 [GRCh37]
Chr11:11q23.3		 likely pathogenic
NM_001197104.2(KMT2A):c.7639C>A (p.Pro2547Thr) single nucleotide variant not provided [RCV002291421] Chr11:118503531 [GRCh38]
Chr11:118374246 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.4471G>C (p.Ala1491Pro) single nucleotide variant not provided [RCV002293736] Chr11:118488752 [GRCh38]
Chr11:118359467 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.370A>G (p.Thr124Ala) single nucleotide variant not provided [RCV002293741] Chr11:118436882 [GRCh38]
Chr11:118307597 [GRCh37]
Chr11:11q23.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_001197104.2(KMT2A):c.5824C>T (p.Pro1942Ser) single nucleotide variant not provided [RCV002293754] Chr11:118498391 [GRCh38]
Chr11:118369106 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.3617T>G (p.Leu1206Arg) single nucleotide variant not provided [RCV002297076] Chr11:118480221 [GRCh38]
Chr11:118350936 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.3149A>G (p.Lys1050Arg) single nucleotide variant not provided [RCV002291448] Chr11:118474308 [GRCh38]
Chr11:118345023 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.7302dup (p.Ser2435fs) duplication Wiedemann-Steiner syndrome [RCV002281892] Chr11:118503188..118503189 [GRCh38]
Chr11:118373903..118373904 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.10549G>A (p.Gly3517Ser) single nucleotide variant Wiedemann-Steiner syndrome [RCV002266800] Chr11:118506441 [GRCh38]
Chr11:118377156 [GRCh37]
Chr11:11q23.3		 uncertain significance
GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3 copy number gain MISSED ABORTION [RCV002282973] Chr11:32799481..134938470 [GRCh37]
Chr11:11p13-q25		 pathogenic
NM_001197104.2(KMT2A):c.1507C>G (p.Arg503Gly) single nucleotide variant not provided [RCV002297752] Chr11:118472666 [GRCh38]
Chr11:118343381 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.539G>C (p.Arg180Thr) single nucleotide variant not provided [RCV002281342] Chr11:118471698 [GRCh38]
Chr11:118342413 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.322G>C (p.Val108Leu) single nucleotide variant not provided [RCV002283210] Chr11:118436834 [GRCh38]
Chr11:118307549 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.2356C>T (p.Pro786Ser) single nucleotide variant not provided [RCV002285881] Chr11:118473515 [GRCh38]
Chr11:118344230 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.6141_6142dup (p.Phe2048fs) microsatellite Wiedemann-Steiner syndrome [RCV002283874] Chr11:118499893..118499894 [GRCh38]
Chr11:118370608..118370609 [GRCh37]
Chr11:11q23.3		 likely pathogenic
NM_001197104.2(KMT2A):c.5318G>A (p.Ser1773Asn) single nucleotide variant not provided [RCV002297722] Chr11:118494722 [GRCh38]
Chr11:118365437 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.11366G>A (p.Arg3789His) single nucleotide variant Wiedemann-Steiner syndrome [RCV002289114]|not provided [RCV003565514] Chr11:118520001 [GRCh38]
Chr11:118390716 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.3730C>A (p.Pro1244Thr) single nucleotide variant Inborn genetic diseases [RCV003259605] Chr11:118481810 [GRCh38]
Chr11:118352525 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.6890C>T (p.Ser2297Leu) single nucleotide variant not provided [RCV003149280] Chr11:118502782 [GRCh38]
Chr11:118373497 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.125C>T (p.Pro42Leu) single nucleotide variant Wiedemann-Steiner syndrome [RCV003147929]|not provided [RCV003778886] Chr11:118436637 [GRCh38]
Chr11:118307352 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.2455C>T (p.Gln819Ter) single nucleotide variant not provided [RCV003152245] Chr11:118473614 [GRCh38]
Chr11:118344329 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.4132A>G (p.Asn1378Asp) single nucleotide variant not provided [RCV003154177] Chr11:118484228 [GRCh38]
Chr11:118354943 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.5656_5657del (p.Ser1886fs) deletion Wiedemann-Steiner syndrome [RCV002471772] Chr11:118496359..118496360 [GRCh38]
Chr11:118367074..118367075 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.4769A>G (p.Lys1590Arg) single nucleotide variant not provided [RCV002302201] Chr11:118491268 [GRCh38]
Chr11:118361983 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.8647G>A (p.Gly2883Arg) single nucleotide variant not provided [RCV002464687] Chr11:118504539 [GRCh38]
Chr11:118375254 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.9911T>G (p.Leu3304Arg) single nucleotide variant Wiedemann-Steiner syndrome [RCV002470300] Chr11:118505803 [GRCh38]
Chr11:118376518 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.4757T>C (p.Met1586Thr) single nucleotide variant not provided [RCV002467047] Chr11:118491256 [GRCh38]
Chr11:118361971 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.8823T>A (p.Ser2941Arg) single nucleotide variant Wiedemann-Steiner syndrome [RCV002465360] Chr11:118504715 [GRCh38]
Chr11:118375430 [GRCh37]
Chr11:11q23.3		 not provided
NM_001197104.2(KMT2A):c.4000C>T (p.Pro1334Ser) single nucleotide variant not provided [RCV002469913] Chr11:118482080 [GRCh38]
Chr11:118352795 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.902G>A (p.Arg301Gln) single nucleotide variant not provided [RCV002467290] Chr11:118472061 [GRCh38]
Chr11:118342776 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.7753del (p.Asp2585fs) deletion Wiedemann-Steiner syndrome [RCV002471377] Chr11:118503644 [GRCh38]
Chr11:118374359 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.9195del (p.Ala3066fs) deletion Wiedemann-Steiner syndrome [RCV002471654] Chr11:118505087 [GRCh38]
Chr11:118375802 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.1901C>T (p.Ser634Leu) single nucleotide variant not provided [RCV002303723] Chr11:118473060 [GRCh38]
Chr11:118343775 [GRCh37]
Chr11:11q23.3		 pathogenic|uncertain significance
NM_001197104.2(KMT2A):c.1082T>C (p.Ile361Thr) single nucleotide variant Wiedemann-Steiner syndrome [RCV002471573] Chr11:118472241 [GRCh38]
Chr11:118342956 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.4301G>T (p.Cys1434Phe) single nucleotide variant Wiedemann-Steiner syndrome [RCV002471771] Chr11:118484944 [GRCh38]
Chr11:118355659 [GRCh37]
Chr11:11q23.3		 likely pathogenic
NM_001197104.2(KMT2A):c.5168dup (p.Tyr1723Ter) duplication Wiedemann-Steiner syndrome [RCV002468730] Chr11:118493219..118493220 [GRCh38]
Chr11:118363934..118363935 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.2935A>G (p.Thr979Ala) single nucleotide variant not provided [RCV002613659] Chr11:118474094 [GRCh38]
Chr11:118344809 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.3615C>A (p.Tyr1205Ter) single nucleotide variant Wiedemann-Steiner syndrome [RCV002465382] Chr11:118480219 [GRCh38]
Chr11:118350934 [GRCh37]
Chr11:11q23.3		 likely pathogenic
NM_001197104.2(KMT2A):c.5113G>C (p.Asp1705His) single nucleotide variant not provided [RCV003156532] Chr11:118493165 [GRCh38]
Chr11:118363880 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.6383C>A (p.Pro2128His) single nucleotide variant not provided [RCV003129331] Chr11:118501735 [GRCh38]
Chr11:118372450 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.9794T>A (p.Leu3265His) single nucleotide variant not provided [RCV003129452] Chr11:118505686 [GRCh38]
Chr11:118376401 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.1274dup (p.Arg426fs) duplication Wiedemann-Steiner syndrome [RCV003148134] Chr11:118472429..118472430 [GRCh38]
Chr11:118343144..118343145 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.3135A>C (p.Gln1045His) single nucleotide variant not provided [RCV002303830] Chr11:118474294 [GRCh38]
Chr11:118345009 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.7149C>G (p.Asp2383Glu) single nucleotide variant not provided [RCV002303894] Chr11:118503041 [GRCh38]
Chr11:118373756 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.4039G>A (p.Val1347Met) single nucleotide variant not provided [RCV002295235] Chr11:118482448 [GRCh38]
Chr11:118353163 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.7346T>C (p.Phe2449Ser) single nucleotide variant not provided [RCV002304391] Chr11:118503238 [GRCh38]
Chr11:118373953 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.7985G>C (p.Arg2662Thr) single nucleotide variant not provided [RCV002305190] Chr11:118503877 [GRCh38]
Chr11:118374592 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.4937C>A (p.Ser1646Tyr) single nucleotide variant not provided [RCV002305271] Chr11:118491861 [GRCh38]
Chr11:118362576 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.5132T>C (p.Leu1711Pro) single nucleotide variant not provided [RCV002305393] Chr11:118493184 [GRCh38]
Chr11:118363899 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.10483A>G (p.Ser3495Gly) single nucleotide variant not provided [RCV002296667] Chr11:118506375 [GRCh38]
Chr11:118377090 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.6773G>A (p.Ser2258Asn) single nucleotide variant Wiedemann-Steiner syndrome [RCV003131380]|not provided [RCV003324870] Chr11:118502665 [GRCh38]
Chr11:118373380 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.8375T>C (p.Val2792Ala) single nucleotide variant not provided [RCV002299628] Chr11:118504267 [GRCh38]
Chr11:118374982 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.4390G>A (p.Glu1464Lys) single nucleotide variant not provided [RCV002300123] Chr11:118488671 [GRCh38]
Chr11:118359386 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.5788del (p.Arg1930fs) deletion not provided [RCV002300869] Chr11:118498059 [GRCh38]
Chr11:118368774 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.447A>C (p.Leu149Phe) single nucleotide variant not provided [RCV002298414] Chr11:118468789 [GRCh38]
Chr11:118339504 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.7847A>G (p.Lys2616Arg) single nucleotide variant not provided [RCV002300207] Chr11:118503739 [GRCh38]
Chr11:118374454 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.7363G>A (p.Val2455Met) single nucleotide variant not provided [RCV002306078] Chr11:118503255 [GRCh38]
Chr11:118373970 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.1682C>T (p.Pro561Leu) single nucleotide variant not provided [RCV002296795] Chr11:118472841 [GRCh38]
Chr11:118343556 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.457T>G (p.Ser153Ala) single nucleotide variant not provided [RCV002300385] Chr11:118468799 [GRCh38]
Chr11:118339514 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.877G>A (p.Gly293Arg) single nucleotide variant not provided [RCV002299525] Chr11:118472036 [GRCh38]
Chr11:118342751 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.1524A>C (p.Glu508Asp) single nucleotide variant not provided [RCV002306215] Chr11:118472683 [GRCh38]
Chr11:118343398 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.10367A>G (p.Gln3456Arg) single nucleotide variant not provided [RCV002296807] Chr11:118506259 [GRCh38]
Chr11:118376974 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.8105C>A (p.Ser2702Tyr) single nucleotide variant not provided [RCV002300006] Chr11:118503997 [GRCh38]
Chr11:118374712 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.7012G>C (p.Val2338Leu) single nucleotide variant not provided [RCV002300173] Chr11:118502904 [GRCh38]
Chr11:118373619 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.8222G>C (p.Ser2741Thr) single nucleotide variant not provided [RCV002295204] Chr11:118504114 [GRCh38]
Chr11:118374829 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.356C>T (p.Ser119Leu) single nucleotide variant not provided [RCV002295487] Chr11:118436868 [GRCh38]
Chr11:118307583 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.11292C>A (p.His3764Gln) single nucleotide variant not provided [RCV002299141] Chr11:118519763 [GRCh38]
Chr11:118390478 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.2612A>T (p.Asp871Val) single nucleotide variant not provided [RCV002294764] Chr11:118473771 [GRCh38]
Chr11:118344486 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.2174G>T (p.Gly725Val) single nucleotide variant not provided [RCV002296737] Chr11:118473333 [GRCh38]
Chr11:118344048 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.5024T>C (p.Leu1675Ser) single nucleotide variant not provided [RCV002301335] Chr11:118493076 [GRCh38]
Chr11:118363791 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.2827A>G (p.Thr943Ala) single nucleotide variant not provided [RCV002297917] Chr11:118473986 [GRCh38]
Chr11:118344701 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.766A>C (p.Ile256Leu) single nucleotide variant not provided [RCV002302319] Chr11:118471925 [GRCh38]
Chr11:118342640 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.9619A>G (p.Arg3207Gly) single nucleotide variant not provided [RCV002298215] Chr11:118505511 [GRCh38]
Chr11:118376226 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.1142A>G (p.Lys381Arg) single nucleotide variant not provided [RCV002296793] Chr11:118472301 [GRCh38]
Chr11:118343016 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.5962-11T>G single nucleotide variant not provided [RCV002771256] Chr11:118499292 [GRCh38]
Chr11:118370007 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.10718C>T (p.Pro3573Leu) single nucleotide variant Inborn genetic diseases [RCV002970773]|not provided [RCV002970772] Chr11:118506610 [GRCh38]
Chr11:118377325 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.4972C>T (p.Arg1658Trp) single nucleotide variant not provided [RCV002685899] Chr11:118491896 [GRCh38]
Chr11:118362611 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.3346A>G (p.Ile1116Val) single nucleotide variant not provided [RCV003013208] Chr11:118477978 [GRCh38]
Chr11:118348693 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.2967C>A (p.Leu989=) single nucleotide variant not provided [RCV002838344] Chr11:118474126 [GRCh38]
Chr11:118344841 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.433-6T>C single nucleotide variant not provided [RCV002881492] Chr11:118468769 [GRCh38]
Chr11:118339484 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.10604G>A (p.Gly3535Asp) single nucleotide variant not provided [RCV002903275] Chr11:118506496 [GRCh38]
Chr11:118377211 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.9976A>G (p.Thr3326Ala) single nucleotide variant not provided [RCV002462635] Chr11:118505868 [GRCh38]
Chr11:118376583 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.6180C>T (p.Ser2060=) single nucleotide variant not provided [RCV002774845] Chr11:118501008 [GRCh38]
Chr11:118371723 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.2464G>C (p.Ala822Pro) single nucleotide variant not provided [RCV002995014] Chr11:118473623 [GRCh38]
Chr11:118344338 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.6982T>A (p.Tyr2328Asn) single nucleotide variant not provided [RCV002617086] Chr11:118502874 [GRCh38]
Chr11:118373589 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.4154A>G (p.Asn1385Ser) single nucleotide variant not provided [RCV002613621] Chr11:118484250 [GRCh38]
Chr11:118354965 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.826G>A (p.Gly276Ser) single nucleotide variant not provided [RCV002750256] Chr11:118471985 [GRCh38]
Chr11:118342700 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.11442C>T (p.Ser3814=) single nucleotide variant not provided [RCV002967877] Chr11:118520814 [GRCh38]
Chr11:118391529 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.7010A>G (p.Gln2337Arg) single nucleotide variant not provided [RCV002994690] Chr11:118502902 [GRCh38]
Chr11:118373617 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.8517C>T (p.Asn2839=) single nucleotide variant not provided [RCV003015083] Chr11:118504409 [GRCh38]
Chr11:118375124 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.6540A>T (p.Thr2180=) single nucleotide variant not provided [RCV002842263] Chr11:118502432 [GRCh38]
Chr11:118373147 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.3394A>G (p.Ile1132Val) single nucleotide variant not provided [RCV003014077] Chr11:118478026 [GRCh38]
Chr11:118348741 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.5205G>T (p.Lys1735Asn) single nucleotide variant not provided [RCV002881096] Chr11:118494314 [GRCh38]
Chr11:118365029 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.5290-18G>A single nucleotide variant not provided [RCV002726841] Chr11:118494676 [GRCh38]
Chr11:118365391 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.10007G>A (p.Gly3336Asp) single nucleotide variant Inborn genetic diseases [RCV002902700] Chr11:118505899 [GRCh38]
Chr11:118376614 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.6646A>G (p.Met2216Val) single nucleotide variant Inborn genetic diseases [RCV002994748]|not provided [RCV003011178] Chr11:118502538 [GRCh38]
Chr11:118373253 [GRCh37]
Chr11:11q23.3		 likely benign|uncertain significance
NM_001197104.2(KMT2A):c.8967A>G (p.Glu2989=) single nucleotide variant not provided [RCV002838815] Chr11:118504859 [GRCh38]
Chr11:118375574 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.4419T>C (p.Asn1473=) single nucleotide variant not provided [RCV002686317] Chr11:118488700 [GRCh38]
Chr11:118359415 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.9929G>A (p.Gly3310Glu) single nucleotide variant Inborn genetic diseases [RCV002906515] Chr11:118505821 [GRCh38]
Chr11:118376536 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.10652A>G (p.Asp3551Gly) single nucleotide variant not provided [RCV003015743] Chr11:118506544 [GRCh38]
Chr11:118377259 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.8956C>A (p.Pro2986Thr) single nucleotide variant not provided [RCV002991617] Chr11:118504848 [GRCh38]
Chr11:118375563 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.3449G>A (p.Arg1150His) single nucleotide variant not provided [RCV002837927] Chr11:118478081 [GRCh38]
Chr11:118348796 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.4641A>T (p.Ala1547=) single nucleotide variant not provided [RCV002903004] Chr11:118490194 [GRCh38]
Chr11:118360909 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.5346A>G (p.Pro1782=) single nucleotide variant not provided [RCV002727139] Chr11:118494750 [GRCh38]
Chr11:118365465 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.5178+15T>G single nucleotide variant not provided [RCV003014682] Chr11:118493245 [GRCh38]
Chr11:118363960 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.991C>T (p.Arg331Trp) single nucleotide variant not provided [RCV002616071] Chr11:118472150 [GRCh38]
Chr11:118342865 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.291C>G (p.Ser97=) single nucleotide variant not provided [RCV002862761] Chr11:118436803 [GRCh38]
Chr11:118307518 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.4326T>A (p.His1442Gln) single nucleotide variant not provided [RCV002971734] Chr11:118484969 [GRCh38]
Chr11:118355684 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.9962C>T (p.Thr3321Ile) single nucleotide variant not provided [RCV002616111] Chr11:118505854 [GRCh38]
Chr11:118376569 [GRCh37]
Chr11:11q23.3		 benign
NM_001197104.2(KMT2A):c.5961+7G>A single nucleotide variant not provided [RCV002903204] Chr11:118498535 [GRCh38]
Chr11:118369250 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.11678C>T (p.Ser3893Leu) single nucleotide variant not provided [RCV002685929] Chr11:118521931 [GRCh38]
Chr11:118392646 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.2352T>G (p.Val784=) single nucleotide variant not provided [RCV002614450] Chr11:118473511 [GRCh38]
Chr11:118344226 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.7584A>C (p.Thr2528=) single nucleotide variant not provided [RCV002730213] Chr11:118503476 [GRCh38]
Chr11:118374191 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.2461A>T (p.Ser821Cys) single nucleotide variant not provided [RCV002974856] Chr11:118473620 [GRCh38]
Chr11:118344335 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.10304C>A (p.Thr3435Asn) single nucleotide variant not provided [RCV002843767] Chr11:118506196 [GRCh38]
Chr11:118376911 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.1000A>G (p.Lys334Glu) single nucleotide variant not provided [RCV002775769] Chr11:118472159 [GRCh38]
Chr11:118342874 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.2056A>T (p.Thr686Ser) single nucleotide variant not provided [RCV002843010] Chr11:118473215 [GRCh38]
Chr11:118343930 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.1842A>G (p.Glu614=) single nucleotide variant not provided [RCV002819579] Chr11:118473001 [GRCh38]
Chr11:118343716 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.3478G>A (p.Gly1160Ser) single nucleotide variant not provided [RCV002947522] Chr11:118478110 [GRCh38]
Chr11:118348825 [GRCh37]
Chr11:11q23.3		 benign|uncertain significance
NM_001197104.2(KMT2A):c.1065del (p.Lys356fs) deletion not provided [RCV002838434] Chr11:118472223 [GRCh38]
Chr11:118342938 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.8013C>T (p.Ala2671=) single nucleotide variant not provided [RCV002686177] Chr11:118503905 [GRCh38]
Chr11:118374620 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.3170A>T (p.Asp1057Val) single nucleotide variant not provided [RCV003016593] Chr11:118476818 [GRCh38]
Chr11:118347533 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.7001T>A (p.Leu2334Gln) single nucleotide variant not provided [RCV003016608] Chr11:118502893 [GRCh38]
Chr11:118373608 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.7145G>A (p.Arg2382Gln) single nucleotide variant Inborn genetic diseases [RCV002882668]|not provided [RCV003561114] Chr11:118503037 [GRCh38]
Chr11:118373752 [GRCh37]
Chr11:11q23.3		 likely benign|uncertain significance
NM_001197104.2(KMT2A):c.7305C>G (p.Ser2435=) single nucleotide variant not provided [RCV002618268] Chr11:118503197 [GRCh38]
Chr11:118373912 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.4480-14A>G single nucleotide variant not provided [RCV002755729] Chr11:118489778 [GRCh38]
Chr11:118360493 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.496C>T (p.Pro166Ser) single nucleotide variant KMT2A-related condition [RCV003403928]|not provided [RCV002843308] Chr11:118468838 [GRCh38]
Chr11:118339553 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.3943C>T (p.Pro1315Ser) single nucleotide variant not provided [RCV002618846] Chr11:118482023 [GRCh38]
Chr11:118352738 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.7517T>C (p.Met2506Thr) single nucleotide variant not provided [RCV002618742] Chr11:118503409 [GRCh38]
Chr11:118374124 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.7252A>G (p.Asn2418Asp) single nucleotide variant not provided [RCV003017224] Chr11:118503144 [GRCh38]
Chr11:118373859 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.1036A>G (p.Thr346Ala) single nucleotide variant not provided [RCV003033445] Chr11:118472195 [GRCh38]
Chr11:118342910 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.4065A>G (p.Val1355=) single nucleotide variant not provided [RCV003035094] Chr11:118482474 [GRCh38]
Chr11:118353189 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.7425G>A (p.Glu2475=) single nucleotide variant not provided [RCV003016734] Chr11:118503317 [GRCh38]
Chr11:118374032 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.9083A>C (p.Asn3028Thr) single nucleotide variant Inborn genetic diseases [RCV002883744] Chr11:118504975 [GRCh38]
Chr11:118375690 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.8482A>C (p.Asn2828His) single nucleotide variant not provided [RCV002903121] Chr11:118504374 [GRCh38]
Chr11:118375089 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.11072-16C>A single nucleotide variant not provided [RCV002734766] Chr11:118511935 [GRCh38]
Chr11:118382650 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.3894C>A (p.Val1298=) single nucleotide variant not provided [RCV002843562] Chr11:118481974 [GRCh38]
Chr11:118352689 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.7102C>G (p.Leu2368Val) single nucleotide variant not provided [RCV002843430] Chr11:118502994 [GRCh38]
Chr11:118373709 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.10846G>A (p.Val3616Ile) single nucleotide variant not provided [RCV003016619] Chr11:118509146 [GRCh38]
Chr11:118379861 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.152C>G (p.Pro51Arg) single nucleotide variant not provided [RCV003035102] Chr11:118436664 [GRCh38]
Chr11:118307379 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.7561C>T (p.Arg2521Cys) single nucleotide variant Inborn genetic diseases [RCV003349057]|not provided [RCV002616714] Chr11:118503453 [GRCh38]
Chr11:118374168 [GRCh37]
Chr11:11q23.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001197104.2(KMT2A):c.8407C>T (p.Gln2803Ter) single nucleotide variant Inborn genetic diseases [RCV002882418] Chr11:118504299 [GRCh38]
Chr11:118375014 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.8055C>G (p.Tyr2685Ter) single nucleotide variant not provided [RCV002843596] Chr11:118503947 [GRCh38]
Chr11:118374662 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.1932C>T (p.Arg644=) single nucleotide variant not provided [RCV002991851] Chr11:118473091 [GRCh38]
Chr11:118343806 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.10595C>T (p.Ser3532Leu) single nucleotide variant not provided [RCV002904004] Chr11:118506487 [GRCh38]
Chr11:118377202 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.10836-17A>G single nucleotide variant not provided [RCV002991857] Chr11:118509119 [GRCh38]
Chr11:118379834 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.180G>C (p.Val60=) single nucleotide variant not provided [RCV002755354] Chr11:118436692 [GRCh38]
Chr11:118307407 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.4087-7T>C single nucleotide variant not provided [RCV002686330] Chr11:118484176 [GRCh38]
Chr11:118354891 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.10130A>G (p.Asp3377Gly) single nucleotide variant Inborn genetic diseases [RCV003357955]|not provided [RCV002617082] Chr11:118506022 [GRCh38]
Chr11:118376737 [GRCh37]
Chr11:11q23.3		 likely benign|uncertain significance
NM_001197104.2(KMT2A):c.11682G>A (p.Glu3894=) single nucleotide variant not provided [RCV002726596] Chr11:118521935 [GRCh38]
Chr11:118392650 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.7663T>C (p.Ser2555Pro) single nucleotide variant not provided [RCV002839046] Chr11:118503555 [GRCh38]
Chr11:118374270 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.6505+9C>T single nucleotide variant not provided [RCV003016196] Chr11:118501866 [GRCh38]
Chr11:118372581 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.416dup (p.Gly140fs) duplication not provided [RCV002967824] Chr11:118436923..118436924 [GRCh38]
Chr11:118307638..118307639 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.9406A>G (p.Thr3136Ala) single nucleotide variant not provided [RCV002838963] Chr11:118505298 [GRCh38]
Chr11:118376013 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.11644-10G>A single nucleotide variant not provided [RCV002862251] Chr11:118521887 [GRCh38]
Chr11:118392602 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.2052T>C (p.Ser684=) single nucleotide variant not provided [RCV003012262] Chr11:118473211 [GRCh38]
Chr11:118343926 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.9003C>G (p.His3001Gln) single nucleotide variant not provided [RCV002861496] Chr11:118504895 [GRCh38]
Chr11:118375610 [GRCh37]
Chr11:11q23.3		 likely benign|uncertain significance
NM_001197104.2(KMT2A):c.464AAG[1] (p.Glu156del) microsatellite Wiedemann-Steiner syndrome [RCV003134579]|not provided [RCV002995369] Chr11:118468805..118468807 [GRCh38]
Chr11:118339520..118339522 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.5435A>C (p.Glu1812Ala) single nucleotide variant not provided [RCV002750815] Chr11:118495771 [GRCh38]
Chr11:118366486 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.5179-6A>G single nucleotide variant not provided [RCV002730783] Chr11:118494282 [GRCh38]
Chr11:118364997 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.8669G>A (p.Arg2890His) single nucleotide variant Inborn genetic diseases [RCV002727735] Chr11:118504561 [GRCh38]
Chr11:118375276 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.3335-8T>C single nucleotide variant not provided [RCV002754978] Chr11:118477959 [GRCh38]
Chr11:118348674 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.5153T>G (p.Met1718Arg) single nucleotide variant not provided [RCV002815610] Chr11:118493205 [GRCh38]
Chr11:118363920 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.9440C>G (p.Ser3147Cys) single nucleotide variant not provided [RCV003016111] Chr11:118505332 [GRCh38]
Chr11:118376047 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.9382A>G (p.Met3128Val) single nucleotide variant not provided [RCV002902984] Chr11:118505274 [GRCh38]
Chr11:118375989 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.131C>A (p.Pro44His) single nucleotide variant not provided [RCV002994851] Chr11:118436643 [GRCh38]
Chr11:118307358 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.5548C>T (p.Pro1850Ser) single nucleotide variant not provided [RCV002816492] Chr11:118495884 [GRCh38]
Chr11:118366599 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.8478C>G (p.Thr2826=) single nucleotide variant not provided [RCV003095703] Chr11:118504370 [GRCh38]
Chr11:118375085 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.2454G>A (p.Lys818=) single nucleotide variant not provided [RCV002681256] Chr11:118473613 [GRCh38]
Chr11:118344328 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.269C>A (p.Ser90Ter) single nucleotide variant not provided [RCV003074956] Chr11:118436781 [GRCh38]
Chr11:118307496 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.5936G>A (p.Arg1979Gln) single nucleotide variant not provided [RCV002838561] Chr11:118498503 [GRCh38]
Chr11:118369218 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.3830C>G (p.Ser1277Trp) single nucleotide variant not provided [RCV002994536] Chr11:118481910 [GRCh38]
Chr11:118352625 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.10210C>T (p.Pro3404Ser) single nucleotide variant not provided [RCV002614939] Chr11:118506102 [GRCh38]
Chr11:118376817 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.3892G>A (p.Val1298Ile) single nucleotide variant not provided [RCV002838716] Chr11:118481972 [GRCh38]
Chr11:118352687 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.2798G>A (p.Arg933Gln) single nucleotide variant not provided [RCV002614857] Chr11:118473957 [GRCh38]
Chr11:118344672 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.7445G>T (p.Cys2482Phe) single nucleotide variant not provided [RCV002904371] Chr11:118503337 [GRCh38]
Chr11:118374052 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.11454A>G (p.Pro3818=) single nucleotide variant not provided [RCV002881902] Chr11:118520826 [GRCh38]
Chr11:118391541 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.27C>A (p.Phe9Leu) single nucleotide variant Inborn genetic diseases [RCV002864978] Chr11:118436539 [GRCh38]
Chr11:118307254 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.9266A>T (p.Gln3089Leu) single nucleotide variant not provided [RCV002843651] Chr11:118505158 [GRCh38]
Chr11:118375873 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.10812G>A (p.Gln3604=) single nucleotide variant not provided [RCV003014382] Chr11:118507586 [GRCh38]
Chr11:118378301 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.6937G>T (p.Val2313Leu) single nucleotide variant not provided [RCV002726251] Chr11:118502829 [GRCh38]
Chr11:118373544 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.2544G>C (p.Gly848=) single nucleotide variant not provided [RCV002616634]|not specified [RCV003988061] Chr11:118473703 [GRCh38]
Chr11:118344418 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.3301C>A (p.Arg1101=) single nucleotide variant not provided [RCV002880277] Chr11:118476949 [GRCh38]
Chr11:118347664 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.8793A>G (p.Pro2931=) single nucleotide variant not provided [RCV002863875] Chr11:118504685 [GRCh38]
Chr11:118375400 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.8684G>A (p.Gly2895Asp) single nucleotide variant not provided [RCV002996903] Chr11:118504576 [GRCh38]
Chr11:118375291 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.5231_5233del (p.Asp1744del) deletion not provided [RCV002816154] Chr11:118494339..118494341 [GRCh38]
Chr11:118365054..118365056 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.10170G>T (p.Gln3390His) single nucleotide variant not provided [RCV002731290] Chr11:118506062 [GRCh38]
Chr11:118376777 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.4902G>A (p.Glu1634=) single nucleotide variant not provided [RCV003097486] Chr11:118491826 [GRCh38]
Chr11:118362541 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.9585G>T (p.Pro3195=) single nucleotide variant not provided [RCV002842634] Chr11:118505477 [GRCh38]
Chr11:118376192 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.5364-14T>C single nucleotide variant not provided [RCV002590526] Chr11:118495686 [GRCh38]
Chr11:118366401 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.8500T>C (p.Ser2834Pro) single nucleotide variant not provided [RCV002800250] Chr11:118504392 [GRCh38]
Chr11:118375107 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.1256C>T (p.Ser419Leu) single nucleotide variant not provided [RCV002761093] Chr11:118472415 [GRCh38]
Chr11:118343130 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.7983G>A (p.Lys2661=) single nucleotide variant not provided [RCV002948652] Chr11:118503875 [GRCh38]
Chr11:118374590 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.11514-15C>G single nucleotide variant not provided [RCV002705880] Chr11:118521273 [GRCh38]
Chr11:118391988 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.2649G>A (p.Glu883=) single nucleotide variant not provided [RCV002571765] Chr11:118473808 [GRCh38]
Chr11:118344523 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.2584C>G (p.Arg862Gly) single nucleotide variant Inborn genetic diseases [RCV002762385] Chr11:118473743 [GRCh38]
Chr11:118344458 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.9983A>C (p.His3328Pro) single nucleotide variant not provided [RCV003020255] Chr11:118505875 [GRCh38]
Chr11:118376590 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.4012+13G>A single nucleotide variant not provided [RCV002979843] Chr11:118482105 [GRCh38]
Chr11:118352820 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.4162A>G (p.Ser1388Gly) single nucleotide variant not provided [RCV002735315] Chr11:118484258 [GRCh38]
Chr11:118354973 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.3629C>T (p.Ala1210Val) single nucleotide variant not provided [RCV002928091] Chr11:118480233 [GRCh38]
Chr11:118350948 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.4956A>G (p.Thr1652=) single nucleotide variant not provided [RCV003100207] Chr11:118491880 [GRCh38]
Chr11:118362595 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.10615C>T (p.Pro3539Ser) single nucleotide variant not provided [RCV002871381] Chr11:118506507 [GRCh38]
Chr11:118377222 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.5292A>C (p.Gln1764His) single nucleotide variant not provided [RCV003021924] Chr11:118494696 [GRCh38]
Chr11:118365411 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.3714G>T (p.Val1238=) single nucleotide variant not provided [RCV002999915] Chr11:118481794 [GRCh38]
Chr11:118352509 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.8568A>G (p.Val2856=) single nucleotide variant not provided [RCV003038482] Chr11:118504460 [GRCh38]
Chr11:118375175 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.2968_2969insAGAG (p.Cys990Ter) insertion not provided [RCV003021754] Chr11:118474127..118474128 [GRCh38]
Chr11:118344842..118344843 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.2526C>T (p.Gly842=) single nucleotide variant not provided [RCV002695857] Chr11:118473685 [GRCh38]
Chr11:118344400 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.552C>G (p.Asp184Glu) single nucleotide variant not provided [RCV003054793] Chr11:118471711 [GRCh38]
Chr11:118342426 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.5802+14G>A single nucleotide variant not provided [RCV002889401] Chr11:118498087 [GRCh38]
Chr11:118368802 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.159G>T (p.Ala53=) single nucleotide variant not provided [RCV002871555] Chr11:118436671 [GRCh38]
Chr11:118307386 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.2700G>T (p.Gln900His) single nucleotide variant not provided [RCV003022120] Chr11:118473859 [GRCh38]
Chr11:118344574 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.8349_8352del (p.Met2783fs) deletion not provided [RCV002825492] Chr11:118504238..118504241 [GRCh38]
Chr11:118374953..118374956 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.3109A>C (p.Ile1037Leu) single nucleotide variant not provided [RCV003020061] Chr11:118474268 [GRCh38]
Chr11:118344983 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.889G>T (p.Val297Leu) single nucleotide variant not provided [RCV002639627] Chr11:118472048 [GRCh38]
Chr11:118342763 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.10076C>T (p.Ala3359Val) single nucleotide variant not provided [RCV002593006] Chr11:118505968 [GRCh38]
Chr11:118376683 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.5232T>C (p.Asp1744=) single nucleotide variant not provided [RCV003035336] Chr11:118494341 [GRCh38]
Chr11:118365056 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.10901-16A>C single nucleotide variant not provided [RCV002926750] Chr11:118509932 [GRCh38]
Chr11:118380647 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.599A>G (p.Asn200Ser) single nucleotide variant not provided [RCV003055393] Chr11:118471758 [GRCh38]
Chr11:118342473 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.9780C>T (p.Phe3260=) single nucleotide variant not provided [RCV002948447] Chr11:118505672 [GRCh38]
Chr11:118376387 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.10417C>T (p.Arg3473Cys) single nucleotide variant not provided [RCV002949160] Chr11:118506309 [GRCh38]
Chr11:118377024 [GRCh37]
Chr11:11q23.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_001197104.2(KMT2A):c.9841T>A (p.Ser3281Thr) single nucleotide variant not provided [RCV003055474] Chr11:118505733 [GRCh38]
Chr11:118376448 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.10164T>C (p.Ala3388=) single nucleotide variant not provided [RCV002761036] Chr11:118506056 [GRCh38]
Chr11:118376771 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.5708_5709del (p.His1903fs) deletion not provided [RCV002824684] Chr11:118497979..118497980 [GRCh38]
Chr11:118368694..118368695 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.3371C>T (p.Pro1124Leu) single nucleotide variant not provided [RCV002696051] Chr11:118478003 [GRCh38]
Chr11:118348718 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.1056T>C (p.Pro352=) single nucleotide variant not provided [RCV002695963] Chr11:118472215 [GRCh38]
Chr11:118342930 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.11130G>A (p.Lys3710=) single nucleotide variant not provided [RCV002928044] Chr11:118512009 [GRCh38]
Chr11:118382724 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.10181_10182delinsAT (p.Gly3394Asp) indel not provided [RCV002926795] Chr11:118506073..118506074 [GRCh38]
Chr11:118376788..118376789 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.10268T>C (p.Ile3423Thr) single nucleotide variant not provided [RCV003035489] Chr11:118506160 [GRCh38]
Chr11:118376875 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.3464G>T (p.Cys1155Phe) single nucleotide variant not provided [RCV002820385] Chr11:118478096 [GRCh38]
Chr11:118348811 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.5269G>A (p.Val1757Ile) single nucleotide variant not provided [RCV003055488] Chr11:118494378 [GRCh38]
Chr11:118365093 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.4219-16C>T single nucleotide variant not provided [RCV003021880] Chr11:118484846 [GRCh38]
Chr11:118355561 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.10835+6C>T single nucleotide variant not provided [RCV002593225] Chr11:118507615 [GRCh38]
Chr11:118378330 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.7164T>C (p.Ser2388=) single nucleotide variant not provided [RCV003020517] Chr11:118503056 [GRCh38]
Chr11:118373771 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.3162A>G (p.Gln1054=) single nucleotide variant not provided [RCV002735107] Chr11:118476810 [GRCh38]
Chr11:118347525 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.2608A>T (p.Lys870Ter) single nucleotide variant Wiedemann-Steiner syndrome [RCV003152806]|not provided [RCV002885399] Chr11:118473767 [GRCh38]
Chr11:118344482 [GRCh37]
Chr11:11q23.3		 pathogenic|likely pathogenic
NM_001197104.2(KMT2A):c.5300G>A (p.Arg1767His) single nucleotide variant not provided [RCV002760651] Chr11:118494704 [GRCh38]
Chr11:118365419 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.2561C>A (p.Ala854Asp) single nucleotide variant not provided [RCV003018858] Chr11:118473720 [GRCh38]
Chr11:118344435 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.10675A>C (p.Lys3559Gln) single nucleotide variant not provided [RCV002948544] Chr11:118506567 [GRCh38]
Chr11:118377282 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.2029C>G (p.Arg677Gly) single nucleotide variant Inborn genetic diseases [RCV002737759] Chr11:118473188 [GRCh38]
Chr11:118343903 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.3156+11C>A single nucleotide variant not provided [RCV002820655] Chr11:118474326 [GRCh38]
Chr11:118345041 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.10652A>T (p.Asp3551Val) single nucleotide variant not provided [RCV003100363] Chr11:118506544 [GRCh38]
Chr11:118377259 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.10755G>A (p.Gly3585=) single nucleotide variant not provided [RCV002760259] Chr11:118507529 [GRCh38]
Chr11:118378244 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.7452T>C (p.Asn2484=) single nucleotide variant not provided [RCV002846868] Chr11:118503344 [GRCh38]
Chr11:118374059 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.8570T>G (p.Leu2857Arg) single nucleotide variant Inborn genetic diseases [RCV002869135] Chr11:118504462 [GRCh38]
Chr11:118375177 [GRCh37]
Chr11:11q23.3		 likely pathogenic|uncertain significance
NM_001197104.2(KMT2A):c.3734C>T (p.Thr1245Ile) single nucleotide variant not provided [RCV003035839] Chr11:118481814 [GRCh38]
Chr11:118352529 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.6865T>C (p.Ser2289Pro) single nucleotide variant not provided [RCV002691189] Chr11:118502757 [GRCh38]
Chr11:118373472 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.11688G>C (p.Val3896=) single nucleotide variant not provided [RCV002694878] Chr11:118521941 [GRCh38]
Chr11:118392656 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.7050A>G (p.Lys2350=) single nucleotide variant not provided [RCV002847467] Chr11:118502942 [GRCh38]
Chr11:118373657 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.11049G>A (p.Gln3683=) single nucleotide variant not provided [RCV002867449] Chr11:118510096 [GRCh38]
Chr11:118380811 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.9255C>T (p.Asn3085=) single nucleotide variant not provided [RCV002705345] Chr11:118505147 [GRCh38]
Chr11:118375862 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.4576-17C>A single nucleotide variant not provided [RCV002820834] Chr11:118490112 [GRCh38]
Chr11:118360827 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.8168T>C (p.Val2723Ala) single nucleotide variant not provided [RCV002639001] Chr11:118504060 [GRCh38]
Chr11:118374775 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.6815C>T (p.Thr2272Ile) single nucleotide variant not provided [RCV002952365] Chr11:118502707 [GRCh38]
Chr11:118373422 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.319C>T (p.Arg107Trp) single nucleotide variant not provided [RCV002638731] Chr11:118436831 [GRCh38]
Chr11:118307546 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.6007G>A (p.Asp2003Asn) single nucleotide variant not provided [RCV003036884] Chr11:118499348 [GRCh38]
Chr11:118370063 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.617C>G (p.Ser206Cys) single nucleotide variant not provided [RCV003019371] Chr11:118471776 [GRCh38]
Chr11:118342491 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.1179G>C (p.Gln393His) single nucleotide variant not provided [RCV002736840] Chr11:118472338 [GRCh38]
Chr11:118343053 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.5961+22del deletion not provided [RCV002867642] Chr11:118498548 [GRCh38]
Chr11:118369263 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.6636_6638del (p.Ile2212del) deletion not provided [RCV002846934] Chr11:118502526..118502528 [GRCh38]
Chr11:118373241..118373243 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.1589G>T (p.Arg530Met) single nucleotide variant Inborn genetic diseases [RCV002781598] Chr11:118472748 [GRCh38]
Chr11:118343463 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.9078T>G (p.Thr3026=) single nucleotide variant not provided [RCV002846442] Chr11:118504970 [GRCh38]
Chr11:118375685 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.1775T>C (p.Leu592Ser) single nucleotide variant not provided [RCV003000063] Chr11:118472934 [GRCh38]
Chr11:118343649 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.9351G>A (p.Val3117=) single nucleotide variant not provided [RCV003053876] Chr11:118505243 [GRCh38]
Chr11:118375958 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.11889C>T (p.Gly3963=) single nucleotide variant not provided [RCV002636739] Chr11:118522142 [GRCh38]
Chr11:118392857 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.992G>A (p.Arg331Gln) single nucleotide variant not provided [RCV002639504] Chr11:118472151 [GRCh38]
Chr11:118342866 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.3437T>C (p.Val1146Ala) single nucleotide variant Inborn genetic diseases [RCV002757444] Chr11:118478069 [GRCh38]
Chr11:118348784 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.103G>A (p.Val35Ile) single nucleotide variant not provided [RCV003100291] Chr11:118436615 [GRCh38]
Chr11:118307330 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.4992A>G (p.Leu1664=) single nucleotide variant not provided [RCV002695071] Chr11:118491916 [GRCh38]
Chr11:118362631 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.7367C>T (p.Thr2456Ile) single nucleotide variant not provided [RCV002761083] Chr11:118503259 [GRCh38]
Chr11:118373974 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.9331G>C (p.Val3111Leu) single nucleotide variant Inborn genetic diseases [RCV002887938]|not provided [RCV003669340] Chr11:118505223 [GRCh38]
Chr11:118375938 [GRCh37]
Chr11:11q23.3		 likely benign|uncertain significance
NM_001197104.2(KMT2A):c.4994G>A (p.Arg1665His) single nucleotide variant not provided [RCV002927193] Chr11:118491918 [GRCh38]
Chr11:118362633 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.7343C>A (p.Ser2448Tyr) single nucleotide variant not provided [RCV003036209] Chr11:118503235 [GRCh38]
Chr11:118373950 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.9722G>A (p.Ser3241Asn) single nucleotide variant not provided [RCV002638955] Chr11:118505614 [GRCh38]
Chr11:118376329 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.1948A>C (p.Asn650His) single nucleotide variant not provided [RCV002690827] Chr11:118473107 [GRCh38]
Chr11:118343822 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.93G>A (p.Pro31=) single nucleotide variant not provided [RCV002889336] Chr11:118436605 [GRCh38]
Chr11:118307320 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.9732A>G (p.Ser3244=) single nucleotide variant not provided [RCV002820799] Chr11:118505624 [GRCh38]
Chr11:118376339 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.10608del (p.Thr3537fs) deletion not provided [RCV002848074] Chr11:118506498 [GRCh38]
Chr11:118377213 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.9093C>T (p.Thr3031=) single nucleotide variant not provided [RCV002927638] Chr11:118504985 [GRCh38]
Chr11:118375700 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.10068A>C (p.Thr3356=) single nucleotide variant not provided [RCV003035618] Chr11:118505960 [GRCh38]
Chr11:118376675 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.6320A>C (p.Glu2107Ala) single nucleotide variant not provided [RCV002691228] Chr11:118501672 [GRCh38]
Chr11:118372387 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.6293T>C (p.Ile2098Thr) single nucleotide variant not provided [RCV003037086] Chr11:118501121 [GRCh38]
Chr11:118371836 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.10534C>G (p.Pro3512Ala) single nucleotide variant not provided [RCV003020729] Chr11:118506426 [GRCh38]
Chr11:118377141 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.3950A>G (p.Lys1317Arg) single nucleotide variant not provided [RCV003038600] Chr11:118482030 [GRCh38]
Chr11:118352745 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.3327G>A (p.Gly1109=) single nucleotide variant not provided [RCV002797399] Chr11:118476975 [GRCh38]
Chr11:118347690 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.6086T>C (p.Met2029Thr) single nucleotide variant not provided [RCV002705897] Chr11:118499841 [GRCh38]
Chr11:118370556 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.1807C>T (p.Pro603Ser) single nucleotide variant not provided [RCV002662537] Chr11:118472966 [GRCh38]
Chr11:118343681 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.488C>T (p.Thr163Ile) single nucleotide variant not provided [RCV003055147] Chr11:118468830 [GRCh38]
Chr11:118339545 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.8987A>G (p.His2996Arg) single nucleotide variant not provided [RCV002735350] Chr11:118504879 [GRCh38]
Chr11:118375594 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.10435T>G (p.Ser3479Ala) single nucleotide variant not provided [RCV002636691] Chr11:118506327 [GRCh38]
Chr11:118377042 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.7642G>A (p.Ala2548Thr) single nucleotide variant not provided [RCV003019367] Chr11:118503534 [GRCh38]
Chr11:118374249 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.7457C>A (p.Ser2486Tyr) single nucleotide variant not provided [RCV002797204] Chr11:118503349 [GRCh38]
Chr11:118374064 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.10798G>A (p.Glu3600Lys) single nucleotide variant not provided [RCV002591515] Chr11:118507572 [GRCh38]
Chr11:118378287 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.4389C>T (p.Asn1463=) single nucleotide variant not provided [RCV002690629] Chr11:118488670 [GRCh38]
Chr11:118359385 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.63C>T (p.Gly21=) single nucleotide variant not provided [RCV002949120] Chr11:118436575 [GRCh38]
Chr11:118307290 [GRCh37]
Chr11:11q23.3		 likely benign|uncertain significance
NM_001197104.2(KMT2A):c.3624G>A (p.Lys1208=) single nucleotide variant not provided [RCV002866948] Chr11:118480228 [GRCh38]
Chr11:118350943 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.1602G>A (p.Ser534=) single nucleotide variant not provided [RCV002636738] Chr11:118472761 [GRCh38]
Chr11:118343476 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.1582A>T (p.Ser528Cys) single nucleotide variant not provided [RCV003020317] Chr11:118472741 [GRCh38]
Chr11:118343456 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.8415C>T (p.Ser2805=) single nucleotide variant not provided [RCV002979477] Chr11:118504307 [GRCh38]
Chr11:118375022 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.10013C>T (p.Ala3338Val) single nucleotide variant not provided [RCV002695212] Chr11:118505905 [GRCh38]
Chr11:118376620 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.2748T>C (p.Val916=) single nucleotide variant not provided [RCV002592003] Chr11:118473907 [GRCh38]
Chr11:118344622 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.4086+15G>T single nucleotide variant not provided [RCV003002492] Chr11:118482510 [GRCh38]
Chr11:118353225 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.3876G>A (p.Arg1292=) single nucleotide variant not provided [RCV002926783] Chr11:118481956 [GRCh38]
Chr11:118352671 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.9848G>T (p.Arg3283Leu) single nucleotide variant Inborn genetic diseases [RCV002999171]|not provided [RCV002999170] Chr11:118505740 [GRCh38]
Chr11:118376455 [GRCh37]
Chr11:11q23.3		 likely benign|uncertain significance
NM_001197104.2(KMT2A):c.11429+17G>C single nucleotide variant not provided [RCV003036907] Chr11:118520081 [GRCh38]
Chr11:118390796 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.9939T>C (p.Ala3313=) single nucleotide variant not provided [RCV003080102] Chr11:118505831 [GRCh38]
Chr11:118376546 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.4218+13A>G single nucleotide variant not provided [RCV002952483] Chr11:118484327 [GRCh38]
Chr11:118355042 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.933G>A (p.Arg311=) single nucleotide variant not provided [RCV003001957] Chr11:118472092 [GRCh38]
Chr11:118342807 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.1728C>T (p.Ser576=) single nucleotide variant not provided [RCV002913164] Chr11:118472887 [GRCh38]
Chr11:118343602 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.8973C>T (p.His2991=) single nucleotide variant not provided [RCV002760174] Chr11:118504865 [GRCh38]
Chr11:118375580 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.2181T>A (p.Ser727=) single nucleotide variant not provided [RCV002638909] Chr11:118473340 [GRCh38]
Chr11:118344055 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.1655C>A (p.Ala552Asp) single nucleotide variant not provided [RCV003054486] Chr11:118472814 [GRCh38]
Chr11:118343529 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.10941C>T (p.Ser3647=) single nucleotide variant not provided [RCV002889125] Chr11:118509988 [GRCh38]
Chr11:118380703 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.7976G>A (p.Arg2659Gln) single nucleotide variant not provided [RCV002796198] Chr11:118503868 [GRCh38]
Chr11:118374583 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.5533C>A (p.His1845Asn) single nucleotide variant not provided [RCV003037433] Chr11:118495869 [GRCh38]
Chr11:118366584 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.8046A>T (p.Leu2682Phe) single nucleotide variant Inborn genetic diseases [RCV002887481] Chr11:118503938 [GRCh38]
Chr11:118374653 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.9483T>C (p.His3161=) single nucleotide variant not provided [RCV002638931] Chr11:118505375 [GRCh38]
Chr11:118376090 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.755G>T (p.Ser252Ile) single nucleotide variant not provided [RCV002619973] Chr11:118471914 [GRCh38]
Chr11:118342629 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.8108A>G (p.His2703Arg) single nucleotide variant not provided [RCV002640138] Chr11:118504000 [GRCh38]
Chr11:118374715 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.4697-17CTTTG[3] microsatellite not provided [RCV003020852] Chr11:118491178..118491179 [GRCh38]
Chr11:118361893..118361894 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.6159-5C>T single nucleotide variant not provided [RCV002796613] Chr11:118500982 [GRCh38]
Chr11:118371697 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.8096G>A (p.Arg2699Gln) single nucleotide variant Inborn genetic diseases [RCV002612662]|not provided [RCV002637445] Chr11:118503988 [GRCh38]
Chr11:118374703 [GRCh37]
Chr11:11q23.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_001197104.2(KMT2A):c.128G>A (p.Gly43Glu) single nucleotide variant not provided [RCV003018972] Chr11:118436640 [GRCh38]
Chr11:118307355 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.8185_8186del (p.Glu2728_Ser2729insTer) microsatellite not provided [RCV002847014] Chr11:118504073..118504074 [GRCh38]
Chr11:118374788..118374789 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.3861C>A (p.Thr1287=) single nucleotide variant not provided [RCV002735550] Chr11:118481941 [GRCh38]
Chr11:118352656 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.9916C>G (p.Pro3306Ala) single nucleotide variant not provided [RCV003021464] Chr11:118505808 [GRCh38]
Chr11:118376523 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.2874C>G (p.Thr958=) single nucleotide variant not provided [RCV002618968] Chr11:118474033 [GRCh38]
Chr11:118344748 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.4333-14T>C single nucleotide variant not provided [RCV002735014] Chr11:118488600 [GRCh38]
Chr11:118359315 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.11122del (p.Arg3708fs) deletion Wiedemann-Steiner syndrome [RCV002795939] Chr11:118511999 [GRCh38]
Chr11:118382714 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.1147del (p.Ala383fs) deletion not provided [RCV002952439] Chr11:118472302 [GRCh38]
Chr11:118343017 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.7354C>A (p.Pro2452Thr) single nucleotide variant not provided [RCV002705708] Chr11:118503246 [GRCh38]
Chr11:118373961 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.5004+22dup duplication not provided [RCV002667961] Chr11:118491943..118491944 [GRCh38]
Chr11:118362658..118362659 [GRCh37]
Chr11:11q23.3		 benign
NM_001197104.2(KMT2A):c.8044T>C (p.Leu2682=) single nucleotide variant not provided [RCV002643454] Chr11:118503936 [GRCh38]
Chr11:118374651 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.6504del (p.Gly2169fs) deletion Inborn genetic diseases [RCV002803137] Chr11:118501856 [GRCh38]
Chr11:118372571 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.7684A>G (p.Ile2562Val) single nucleotide variant not provided [RCV003059655] Chr11:118503576 [GRCh38]
Chr11:118374291 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.7012G>A (p.Val2338Ile) single nucleotide variant not provided [RCV002667986] Chr11:118502904 [GRCh38]
Chr11:118373619 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.6033_6036del (p.Arg2011fs) microsatellite not provided [RCV002893870] Chr11:118499370..118499373 [GRCh38]
Chr11:118370085..118370088 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.3539G>A (p.Gly1180Asp) single nucleotide variant Inborn genetic diseases [RCV002919466] Chr11:118478171 [GRCh38]
Chr11:118348886 [GRCh37]
Chr11:11q23.3		 likely pathogenic
NM_001197104.2(KMT2A):c.5665-2A>G single nucleotide variant Inborn genetic diseases [RCV002702295] Chr11:118497934 [GRCh38]
Chr11:118368649 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.3838G>A (p.Gly1280Arg) single nucleotide variant not provided [RCV003059937] Chr11:118481918 [GRCh38]
Chr11:118352633 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.282_284del (p.Ser98del) deletion not provided [RCV002918394] Chr11:118436792..118436794 [GRCh38]
Chr11:118307507..118307509 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.4012+10G>A single nucleotide variant not provided [RCV003008209] Chr11:118482102 [GRCh38]
Chr11:118352817 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.6098G>A (p.Cys2033Tyr) single nucleotide variant not provided [RCV003023975] Chr11:118499853 [GRCh38]
Chr11:118370568 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.10664G>T (p.Gly3555Val) single nucleotide variant not provided [RCV003084194] Chr11:118506556 [GRCh38]
Chr11:118377271 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.11430-7C>G single nucleotide variant not provided [RCV003026199] Chr11:118520795 [GRCh38]
Chr11:118391510 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.5557+11A>G single nucleotide variant not provided [RCV003026202] Chr11:118495904 [GRCh38]
Chr11:118366619 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.7869T>C (p.Ser2623=) single nucleotide variant not provided [RCV002791115] Chr11:118503761 [GRCh38]
Chr11:118374476 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.3569+8G>A single nucleotide variant not provided [RCV002894110] Chr11:118478209 [GRCh38]
Chr11:118348924 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.1320T>C (p.Ile440=) single nucleotide variant not provided [RCV002853184] Chr11:118472479 [GRCh38]
Chr11:118343194 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.9647C>T (p.Thr3216Ile) single nucleotide variant not provided [RCV002710553] Chr11:118505539 [GRCh38]
Chr11:118376254 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.10143A>G (p.Ile3381Met) single nucleotide variant not provided [RCV002958930] Chr11:118506035 [GRCh38]
Chr11:118376750 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.6961G>A (p.Gly2321Arg) single nucleotide variant not provided [RCV002712154] Chr11:118502853 [GRCh38]
Chr11:118373568 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.1190G>A (p.Arg397Lys) single nucleotide variant not provided [RCV002667238] Chr11:118472349 [GRCh38]
Chr11:118343064 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.992G>C (p.Arg331Pro) single nucleotide variant not provided [RCV003008254] Chr11:118472151 [GRCh38]
Chr11:118342866 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.11429G>T (p.Arg3810Leu) single nucleotide variant Inborn genetic diseases [RCV002830782] Chr11:118520064 [GRCh38]
Chr11:118390779 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.1001A>C (p.Lys334Thr) single nucleotide variant Inborn genetic diseases [RCV002762939] Chr11:118472160 [GRCh38]
Chr11:118342875 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.11329G>A (p.Ala3777Thr) single nucleotide variant not provided [RCV002829793] Chr11:118519964 [GRCh38]
Chr11:118390679 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.4332+7C>G single nucleotide variant not provided [RCV003085036] Chr11:118484982 [GRCh38]
Chr11:118355697 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.3164A>C (p.Glu1055Ala) single nucleotide variant not provided [RCV003043326] Chr11:118476812 [GRCh38]
Chr11:118347527 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.2121T>A (p.Ala707=) single nucleotide variant not provided [RCV002805561] Chr11:118473280 [GRCh38]
Chr11:118343995 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.8431C>T (p.Arg2811Cys) single nucleotide variant not provided [RCV002626043] Chr11:118504323 [GRCh38]
Chr11:118375038 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.6226G>A (p.Glu2076Lys) single nucleotide variant not provided [RCV003008186] Chr11:118501054 [GRCh38]
Chr11:118371769 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.412G>A (p.Gly138Arg) single nucleotide variant not provided [RCV002895006] Chr11:118436924 [GRCh38]
Chr11:118307639 [GRCh37]
Chr11:11q23.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_001197104.2(KMT2A):c.8537A>C (p.Asn2846Thr) single nucleotide variant not provided [RCV002828159] Chr11:118504429 [GRCh38]
Chr11:118375144 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.1182G>T (p.Leu394=) single nucleotide variant not provided [RCV002643315] Chr11:118472341 [GRCh38]
Chr11:118343056 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.1686T>G (p.Pro562=) single nucleotide variant not provided [RCV002914903] Chr11:118472845 [GRCh38]
Chr11:118343560 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.3948A>G (p.Arg1316=) single nucleotide variant not provided [RCV002574428] Chr11:118482028 [GRCh38]
Chr11:118352743 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.7505A>G (p.Lys2502Arg) single nucleotide variant not provided [RCV002593835] Chr11:118503397 [GRCh38]
Chr11:118374112 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.1337C>T (p.Thr446Ile) single nucleotide variant Inborn genetic diseases [RCV002955349]|not provided [RCV003111723] Chr11:118472496 [GRCh38]
Chr11:118343211 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.9917C>T (p.Pro3306Leu) single nucleotide variant not provided [RCV003057579] Chr11:118505809 [GRCh38]
Chr11:118376524 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.9751G>A (p.Val3251Met) single nucleotide variant not provided [RCV002595271] Chr11:118505643 [GRCh38]
Chr11:118376358 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.10828C>T (p.Pro3610Ser) single nucleotide variant not provided [RCV003039849] Chr11:118507602 [GRCh38]
Chr11:118378317 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.397T>G (p.Phe133Val) single nucleotide variant Inborn genetic diseases [RCV002764437] Chr11:118436909 [GRCh38]
Chr11:118307624 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.1700del (p.Thr567fs) deletion not provided [RCV003056995] Chr11:118472859 [GRCh38]
Chr11:118343574 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.2056A>G (p.Thr686Ala) single nucleotide variant not provided [RCV002594986] Chr11:118473215 [GRCh38]
Chr11:118343930 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.6672G>C (p.Arg2224Ser) single nucleotide variant not provided [RCV003057891] Chr11:118502564 [GRCh38]
Chr11:118373279 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.4696+5C>G single nucleotide variant KMT2A-related condition [RCV003963360]|not provided [RCV002786605] Chr11:118490254 [GRCh38]
Chr11:118360969 [GRCh37]
Chr11:11q23.3		 likely benign|uncertain significance
NM_001197104.2(KMT2A):c.352G>A (p.Val118Ile) single nucleotide variant not provided [RCV002741444] Chr11:118436864 [GRCh38]
Chr11:118307579 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.2771C>T (p.Ser924Leu) single nucleotide variant not provided [RCV002572608] Chr11:118473930 [GRCh38]
Chr11:118344645 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.404A>G (p.Glu135Gly) single nucleotide variant Inborn genetic diseases [RCV002764459] Chr11:118436916 [GRCh38]
Chr11:118307631 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.3924G>A (p.Gln1308=) single nucleotide variant not provided [RCV003040975] Chr11:118482004 [GRCh38]
Chr11:118352719 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.9829C>T (p.Leu3277Phe) single nucleotide variant not provided [RCV002594860] Chr11:118505721 [GRCh38]
Chr11:118376436 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.2271A>T (p.Thr757=) single nucleotide variant not provided [RCV003041884] Chr11:118473430 [GRCh38]
Chr11:118344145 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.2490dup (p.Ser831Ter) duplication not provided [RCV002852546] Chr11:118473648..118473649 [GRCh38]
Chr11:118344363..118344364 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.10171C>A (p.Gln3391Lys) single nucleotide variant not provided [RCV002700201] Chr11:118506063 [GRCh38]
Chr11:118376778 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.10314G>A (p.Thr3438=) single nucleotide variant not provided [RCV002766497] Chr11:118506206 [GRCh38]
Chr11:118376921 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.8944C>T (p.Pro2982Ser) single nucleotide variant not provided [RCV002850896] Chr11:118504836 [GRCh38]
Chr11:118375551 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.11634C>T (p.Tyr3878=) single nucleotide variant not provided [RCV002623830] Chr11:118521408 [GRCh38]
Chr11:118392123 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.2178A>G (p.Thr726=) single nucleotide variant not provided [RCV002593530] Chr11:118473337 [GRCh38]
Chr11:118344052 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.8160G>A (p.Leu2720=) single nucleotide variant not provided [RCV003056370] Chr11:118504052 [GRCh38]
Chr11:118374767 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.7823A>C (p.Lys2608Thr) single nucleotide variant not provided [RCV002741081] Chr11:118503715 [GRCh38]
Chr11:118374430 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.3569+7G>A single nucleotide variant not provided [RCV003022186] Chr11:118478208 [GRCh38]
Chr11:118348923 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.11765A>T (p.Asn3922Ile) single nucleotide variant not provided [RCV002872638] Chr11:118522018 [GRCh38]
Chr11:118392733 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.6148A>G (p.Ile2050Val) single nucleotide variant not provided [RCV002594621] Chr11:118499903 [GRCh38]
Chr11:118370618 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.1672T>C (p.Ser558Pro) single nucleotide variant not provided [RCV002594768] Chr11:118472831 [GRCh38]
Chr11:118343546 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.11790C>T (p.Val3930=) single nucleotide variant not provided [RCV003041623] Chr11:118522043 [GRCh38]
Chr11:118392758 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.269C>T (p.Ser90Leu) single nucleotide variant not provided [RCV002700085] Chr11:118436781 [GRCh38]
Chr11:118307496 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.10853del (p.Pro3618fs) deletion Wiedemann-Steiner syndrome [RCV002789994] Chr11:118509152 [GRCh38]
Chr11:118379867 [GRCh37]
Chr11:11q23.3		 likely pathogenic
NM_001197104.2(KMT2A):c.834C>G (p.Leu278=) single nucleotide variant not provided [RCV002625861] Chr11:118471993 [GRCh38]
Chr11:118342708 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.4958C>T (p.Ala1653Val) single nucleotide variant not provided [RCV002593570] Chr11:118491882 [GRCh38]
Chr11:118362597 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.1450G>A (p.Val484Ile) single nucleotide variant not provided [RCV002627075] Chr11:118472609 [GRCh38]
Chr11:118343324 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.10236G>A (p.Leu3412=) single nucleotide variant not provided [RCV002929037] Chr11:118506128 [GRCh38]
Chr11:118376843 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.5005-5A>T single nucleotide variant not provided [RCV003023254] Chr11:118493052 [GRCh38]
Chr11:118363767 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.9908C>T (p.Pro3303Leu) single nucleotide variant not provided [RCV002701063] Chr11:118505800 [GRCh38]
Chr11:118376515 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.689G>A (p.Gly230Glu) single nucleotide variant not provided [RCV002958709] Chr11:118471848 [GRCh38]
Chr11:118342563 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.5646T>C (p.Tyr1882=) single nucleotide variant not provided [RCV002643149] Chr11:118496349 [GRCh38]
Chr11:118367064 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.11228G>A (p.Cys3743Tyr) single nucleotide variant not provided [RCV002626231] Chr11:118519699 [GRCh38]
Chr11:118390414 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.10795G>C (p.Val3599Leu) single nucleotide variant not provided [RCV002575602] Chr11:118507569 [GRCh38]
Chr11:118378284 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.4203C>A (p.Ile1401=) single nucleotide variant not provided [RCV003084475] Chr11:118484299 [GRCh38]
Chr11:118355014 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.3746G>A (p.Arg1249Lys) single nucleotide variant not provided [RCV002701371] Chr11:118481826 [GRCh38]
Chr11:118352541 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.8445A>G (p.Thr2815=) single nucleotide variant not provided [RCV002573816] Chr11:118504337 [GRCh38]
Chr11:118375052 [GRCh37]
Chr11:11q23.3		 benign
NM_001197104.2(KMT2A):c.6401C>T (p.Ser2134Phe) single nucleotide variant not provided [RCV002871745] Chr11:118501753 [GRCh38]
Chr11:118372468 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.5916T>G (p.Asp1972Glu) single nucleotide variant not provided [RCV002851773] Chr11:118498483 [GRCh38]
Chr11:118369198 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.1203A>G (p.Thr401=) single nucleotide variant not provided [RCV002828479] Chr11:118472362 [GRCh38]
Chr11:118343077 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.1347T>A (p.Ser449Arg) single nucleotide variant not provided [RCV002626283] Chr11:118472506 [GRCh38]
Chr11:118343221 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.7814A>C (p.Asp2605Ala) single nucleotide variant not provided [RCV002828982] Chr11:118503706 [GRCh38]
Chr11:118374421 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.6840C>T (p.Asn2280=) single nucleotide variant not provided [RCV002745621] Chr11:118502732 [GRCh38]
Chr11:118373447 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.10413C>T (p.Ser3471=) single nucleotide variant not provided [RCV002954042] Chr11:118506305 [GRCh38]
Chr11:118377020 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.743A>G (p.Asn248Ser) single nucleotide variant Inborn genetic diseases [RCV002611491]|not provided [RCV002623488] Chr11:118471902 [GRCh38]
Chr11:118342617 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.5527C>T (p.Pro1843Ser) single nucleotide variant Inborn genetic diseases [RCV003084286]|not provided [RCV003084285] Chr11:118495863 [GRCh38]
Chr11:118366578 [GRCh37]
Chr11:11q23.3		 likely benign|uncertain significance
NM_001197104.2(KMT2A):c.6793A>C (p.Thr2265Pro) single nucleotide variant Inborn genetic diseases [RCV002854056]|KMT2A-related condition [RCV003906592]|not provided [RCV003730290] Chr11:118502685 [GRCh38]
Chr11:118373400 [GRCh37]
Chr11:11q23.3		 likely benign|uncertain significance
NM_001197104.2(KMT2A):c.9762T>C (p.Asn3254=) single nucleotide variant not provided [RCV002829882] Chr11:118505654 [GRCh38]
Chr11:118376369 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.10315_10316delinsAC (p.Gly3439Thr) indel not provided [RCV003082314] Chr11:118506207..118506208 [GRCh38]
Chr11:118376922..118376923 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.2030G>T (p.Arg677Leu) single nucleotide variant not provided [RCV002801309] Chr11:118473189 [GRCh38]
Chr11:118343904 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.707C>T (p.Thr236Ile) single nucleotide variant not provided [RCV002932074] Chr11:118471866 [GRCh38]
Chr11:118342581 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.8082A>G (p.Ser2694=) single nucleotide variant not provided [RCV002710584] Chr11:118503974 [GRCh38]
Chr11:118374689 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.179_202del (p.Val60_Ala67del) deletion not provided [RCV002875822] Chr11:118436690..118436713 [GRCh38]
Chr11:118307405..118307428 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.9109C>T (p.Pro3037Ser) single nucleotide variant not provided [RCV002643102] Chr11:118505001 [GRCh38]
Chr11:118375716 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.8336A>G (p.Asn2779Ser) single nucleotide variant not provided [RCV002663261] Chr11:118504228 [GRCh38]
Chr11:118374943 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.2489G>A (p.Ser830Asn) single nucleotide variant not provided [RCV003057167] Chr11:118473648 [GRCh38]
Chr11:118344363 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.278C>G (p.Ser93Cys) single nucleotide variant not provided [RCV002829521] Chr11:118436790 [GRCh38]
Chr11:118307505 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.7091C>G (p.Ser2364Cys) single nucleotide variant not provided [RCV002623907] Chr11:118502983 [GRCh38]
Chr11:118373698 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.6724A>G (p.Ser2242Gly) single nucleotide variant not provided [RCV002626649] Chr11:118502616 [GRCh38]
Chr11:118373331 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.2038T>C (p.Ser680Pro) single nucleotide variant not provided [RCV002508464] Chr11:118473197 [GRCh38]
Chr11:118343912 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.1520C>T (p.Pro507Leu) single nucleotide variant not provided [RCV003059173] Chr11:118472679 [GRCh38]
Chr11:118343394 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.3700G>A (p.Val1234Met) single nucleotide variant Inborn genetic diseases [RCV003274234]|not provided [RCV003082586] Chr11:118481780 [GRCh38]
Chr11:118352495 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.6095A>G (p.Asp2032Gly) single nucleotide variant not provided [RCV003005231] Chr11:118499850 [GRCh38]
Chr11:118370565 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.720C>T (p.Asp240=) single nucleotide variant not provided [RCV002876135] Chr11:118471879 [GRCh38]
Chr11:118342594 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.9627C>T (p.Asp3209=) single nucleotide variant not provided [RCV003084172] Chr11:118505519 [GRCh38]
Chr11:118376234 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.6464C>T (p.Pro2155Leu) single nucleotide variant not provided [RCV002766677] Chr11:118501816 [GRCh38]
Chr11:118372531 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.5068G>A (p.Glu1690Lys) single nucleotide variant not provided [RCV002929039] Chr11:118493120 [GRCh38]
Chr11:118363835 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.7801C>G (p.Leu2601Val) single nucleotide variant not provided [RCV003058058] Chr11:118503693 [GRCh38]
Chr11:118374408 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.803C>A (p.Thr268Lys) single nucleotide variant not provided [RCV003023030] Chr11:118471962 [GRCh38]
Chr11:118342677 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.456C>T (p.Gly152=) single nucleotide variant not provided [RCV002667332] Chr11:118468798 [GRCh38]
Chr11:118339513 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.7823A>G (p.Lys2608Arg) single nucleotide variant not provided [RCV003007672] Chr11:118503715 [GRCh38]
Chr11:118374430 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.4315A>C (p.Ser1439Arg) single nucleotide variant not provided [RCV002626731] Chr11:118484958 [GRCh38]
Chr11:118355673 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.11835C>T (p.Tyr3945=) single nucleotide variant not provided [RCV002624217] Chr11:118522088 [GRCh38]
Chr11:118392803 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.11596A>G (p.Ile3866Val) single nucleotide variant not provided [RCV003024039] Chr11:118521370 [GRCh38]
Chr11:118392085 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.4081G>C (p.Glu1361Gln) single nucleotide variant not provided [RCV003024879] Chr11:118482490 [GRCh38]
Chr11:118353205 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.7052T>C (p.Ile2351Thr) single nucleotide variant not provided [RCV003041125] Chr11:118502944 [GRCh38]
Chr11:118373659 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.5557+19A>G single nucleotide variant not provided [RCV002596767] Chr11:118495912 [GRCh38]
Chr11:118366627 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.7605G>A (p.Glu2535=) single nucleotide variant not provided [RCV003056238] Chr11:118503497 [GRCh38]
Chr11:118374212 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.8316G>A (p.Lys2772=) single nucleotide variant not provided [RCV002890900] Chr11:118504208 [GRCh38]
Chr11:118374923 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.4929G>A (p.Leu1643=) single nucleotide variant not provided [RCV002872591] Chr11:118491853 [GRCh38]
Chr11:118362568 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.11212T>C (p.Ser3738Pro) single nucleotide variant not provided [RCV002932796] Chr11:118519683 [GRCh38]
Chr11:118390398 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.3926C>T (p.Pro1309Leu) single nucleotide variant not provided [RCV002667685] Chr11:118482006 [GRCh38]
Chr11:118352721 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.1033A>G (p.Lys345Glu) single nucleotide variant not provided [RCV002643288] Chr11:118472192 [GRCh38]
Chr11:118342907 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.10794C>G (p.Ser3598Arg) single nucleotide variant not provided [RCV002829113] Chr11:118507568 [GRCh38]
Chr11:118378283 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.4208T>A (p.Val1403Glu) single nucleotide variant not provided [RCV003041092] Chr11:118484304 [GRCh38]
Chr11:118355019 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.9382A>C (p.Met3128Leu) single nucleotide variant not provided [RCV002710153] Chr11:118505274 [GRCh38]
Chr11:118375989 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.10975C>T (p.Arg3659Trp) single nucleotide variant not provided [RCV002790991] Chr11:118510022 [GRCh38]
Chr11:118380737 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.2363C>T (p.Ala788Val) single nucleotide variant not provided [RCV002741042] Chr11:118473522 [GRCh38]
Chr11:118344237 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.5665-4A>G single nucleotide variant not provided [RCV002802038] Chr11:118497932 [GRCh38]
Chr11:118368647 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.8390A>C (p.Gln2797Pro) single nucleotide variant not provided [RCV003055870] Chr11:118504282 [GRCh38]
Chr11:118374997 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.5334G>T (p.Arg1778Ser) single nucleotide variant not provided [RCV002593980] Chr11:118494738 [GRCh38]
Chr11:118365453 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.5595C>G (p.Asn1865Lys) single nucleotide variant not provided [RCV002871675] Chr11:118496298 [GRCh38]
Chr11:118367013 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.140G>A (p.Gly47Asp) single nucleotide variant Inborn genetic diseases [RCV002702646] Chr11:118436652 [GRCh38]
Chr11:118307367 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.11002C>A (p.Pro3668Thr) single nucleotide variant Inborn genetic diseases [RCV003269232]|KMT2A-related condition [RCV003434498]|not provided [RCV002646971] Chr11:118510049 [GRCh38]
Chr11:118380764 [GRCh37]
Chr11:11q23.3		 likely benign|uncertain significance
NM_001197104.2(KMT2A):c.10447G>C (p.Val3483Leu) single nucleotide variant not provided [RCV002810794] Chr11:118506339 [GRCh38]
Chr11:118377054 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.6705C>T (p.Thr2235=) single nucleotide variant not provided [RCV002580109] Chr11:118502597 [GRCh38]
Chr11:118373312 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.1122A>G (p.Gln374=) single nucleotide variant not provided [RCV003029883] Chr11:118472281 [GRCh38]
Chr11:118342996 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.3569+17C>T single nucleotide variant not provided [RCV002650005] Chr11:118478218 [GRCh38]
Chr11:118348933 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.3268A>G (p.Met1090Val) single nucleotide variant not provided [RCV002631810] Chr11:118476916 [GRCh38]
Chr11:118347631 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.3611C>A (p.Ala1204Asp) single nucleotide variant not provided [RCV002807161] Chr11:118480215 [GRCh38]
Chr11:118350930 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.11466C>T (p.Arg3822=) single nucleotide variant not provided [RCV002966712] Chr11:118520838 [GRCh38]
Chr11:118391553 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.10415A>G (p.Gln3472Arg) single nucleotide variant not provided [RCV002720591] Chr11:118506307 [GRCh38]
Chr11:118377022 [GRCh37]
Chr11:11q23.3		 benign
NM_001197104.2(KMT2A):c.210C>T (p.Ser70=) single nucleotide variant not provided [RCV002601002] Chr11:118436722 [GRCh38]
Chr11:118307437 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.8878G>C (p.Glu2960Gln) single nucleotide variant Inborn genetic diseases [RCV002835805] Chr11:118504770 [GRCh38]
Chr11:118375485 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.6911C>G (p.Ser2304Cys) single nucleotide variant not provided [RCV002810974] Chr11:118502803 [GRCh38]
Chr11:118373518 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.3186T>G (p.Ser1062=) single nucleotide variant not provided [RCV002675552] Chr11:118476834 [GRCh38]
Chr11:118347549 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.4576-14_4576-10del microsatellite not provided [RCV002721241] Chr11:118490109..118490113 [GRCh38]
Chr11:118360824..118360828 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.3409A>G (p.Arg1137Gly) single nucleotide variant not provided [RCV003064025] Chr11:118478041 [GRCh38]
Chr11:118348756 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.1756A>G (p.Met586Val) single nucleotide variant not provided [RCV002834589] Chr11:118472915 [GRCh38]
Chr11:118343630 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.282G>A (p.Ser94=) single nucleotide variant not provided [RCV003031908] Chr11:118436794 [GRCh38]
Chr11:118307509 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.3762A>G (p.Pro1254=) single nucleotide variant not provided [RCV002581749] Chr11:118481842 [GRCh38]
Chr11:118352557 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.4422G>A (p.Trp1474Ter) single nucleotide variant Wiedemann-Steiner syndrome [RCV002810035] Chr11:118488703 [GRCh38]
Chr11:118359418 [GRCh37]
Chr11:11q23.3		 likely pathogenic
NM_001197104.2(KMT2A):c.11637C>G (p.Asp3879Glu) single nucleotide variant not provided [RCV003030198] Chr11:118521411 [GRCh38]
Chr11:118392126 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.10275G>A (p.Ala3425=) single nucleotide variant not provided [RCV002581257] Chr11:118506167 [GRCh38]
Chr11:118376882 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.1251C>A (p.Ile417=) single nucleotide variant not provided [RCV003047685] Chr11:118472410 [GRCh38]
Chr11:118343125 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.4594C>T (p.Arg1532Cys) single nucleotide variant not provided [RCV002602001] Chr11:118490147 [GRCh38]
Chr11:118360862 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.6603T>C (p.Ser2201=) single nucleotide variant not provided [RCV002599465] Chr11:118502495 [GRCh38]
Chr11:118373210 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.6358A>G (p.Ile2120Val) single nucleotide variant not provided [RCV002720512] Chr11:118501710 [GRCh38]
Chr11:118372425 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.7499T>A (p.Val2500Asp) single nucleotide variant not provided [RCV003065960] Chr11:118503391 [GRCh38]
Chr11:118374106 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.6418_6420del (p.His2140del) deletion not provided [RCV002716388] Chr11:118501768..118501770 [GRCh38]
Chr11:118372483..118372485 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.4746G>C (p.Glu1582Asp) single nucleotide variant not provided [RCV002811051] Chr11:118491245 [GRCh38]
Chr11:118361960 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.3635-5C>T single nucleotide variant not provided [RCV002675728] Chr11:118481710 [GRCh38]
Chr11:118352425 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.5961+22dup duplication not provided [RCV002646785] Chr11:118498547..118498548 [GRCh38]
Chr11:118369262..118369263 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.289T>C (p.Ser97Pro) single nucleotide variant not provided [RCV002966782] Chr11:118436801 [GRCh38]
Chr11:118307516 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.10574G>A (p.Gly3525Glu) single nucleotide variant Inborn genetic diseases [RCV002717719] Chr11:118506466 [GRCh38]
Chr11:118377181 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.703A>G (p.Ile235Val) single nucleotide variant not provided [RCV003027276] Chr11:118471862 [GRCh38]
Chr11:118342577 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.10902A>T (p.Glu3634Asp) single nucleotide variant not provided [RCV002602081] Chr11:118509949 [GRCh38]
Chr11:118380664 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.5170A>G (p.Thr1724Ala) single nucleotide variant not provided [RCV002966581] Chr11:118493222 [GRCh38]
Chr11:118363937 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.9709C>T (p.Leu3237Phe) single nucleotide variant not provided [RCV002676177] Chr11:118505601 [GRCh38]
Chr11:118376316 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.11801T>C (p.Met3934Thr) single nucleotide variant not provided [RCV003044301] Chr11:118522054 [GRCh38]
Chr11:118392769 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.4807T>C (p.Ser1603Pro) single nucleotide variant Inborn genetic diseases [RCV002671007]|not provided [RCV002650737] Chr11:118491306 [GRCh38]
Chr11:118362021 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.4332+17C>T single nucleotide variant not provided [RCV002899671] Chr11:118484992 [GRCh38]
Chr11:118355707 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.894A>G (p.Gln298=) single nucleotide variant not provided [RCV002632861] Chr11:118472053 [GRCh38]
Chr11:118342768 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.5824C>G (p.Pro1942Ala) single nucleotide variant not provided [RCV002791741] Chr11:118498391 [GRCh38]
Chr11:118369106 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.8273T>C (p.Ile2758Thr) single nucleotide variant not provided [RCV003046154] Chr11:118504165 [GRCh38]
Chr11:118374880 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.7427A>G (p.Tyr2476Cys) single nucleotide variant not provided [RCV002598012] Chr11:118503319 [GRCh38]
Chr11:118374034 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.6884G>A (p.Ser2295Asn) single nucleotide variant not provided [RCV002597476] Chr11:118502776 [GRCh38]
Chr11:118373491 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.6374C>G (p.Pro2125Arg) single nucleotide variant Inborn genetic diseases [RCV002935793] Chr11:118501726 [GRCh38]
Chr11:118372441 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.5048T>A (p.Ile1683Lys) single nucleotide variant not provided [RCV003028218] Chr11:118493100 [GRCh38]
Chr11:118363815 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.189G>C (p.Ala63=) single nucleotide variant not provided [RCV003045458] Chr11:118436701 [GRCh38]
Chr11:118307416 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.6472A>C (p.Arg2158=) single nucleotide variant KMT2A-related condition [RCV003898804]|not provided [RCV003088627] Chr11:118501824 [GRCh38]
Chr11:118372539 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.7639C>T (p.Pro2547Ser) single nucleotide variant not provided [RCV003029588] Chr11:118503531 [GRCh38]
Chr11:118374246 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.7773T>A (p.Tyr2591Ter) single nucleotide variant not provided [RCV003026874] Chr11:118503665 [GRCh38]
Chr11:118374380 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.1573G>A (p.Asp525Asn) single nucleotide variant not provided [RCV002922494] Chr11:118472732 [GRCh38]
Chr11:118343447 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.7273T>G (p.Ser2425Ala) single nucleotide variant not provided [RCV002629413] Chr11:118503165 [GRCh38]
Chr11:118373880 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.290C>T (p.Ser97Phe) single nucleotide variant not provided [RCV003029579] Chr11:118436802 [GRCh38]
Chr11:118307517 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.5299C>T (p.Arg1767Cys) single nucleotide variant not provided [RCV002715137] Chr11:118494703 [GRCh38]
Chr11:118365418 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.1607G>C (p.Arg536Thr) single nucleotide variant Inborn genetic diseases [RCV002577553]|not provided [RCV002577552] Chr11:118472766 [GRCh38]
Chr11:118343481 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.3349G>A (p.Ala1117Thr) single nucleotide variant not provided [RCV002647155] Chr11:118477981 [GRCh38]
Chr11:118348696 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.2259C>T (p.His753=) single nucleotide variant not provided [RCV002810352] Chr11:118473418 [GRCh38]
Chr11:118344133 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.9398C>T (p.Thr3133Ile) single nucleotide variant not provided [RCV003044085] Chr11:118505290 [GRCh38]
Chr11:118376005 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.11311G>A (p.Val3771Ile) single nucleotide variant not provided [RCV002576874] Chr11:118519782 [GRCh38]
Chr11:118390497 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.4999C>T (p.Arg1667Trp) single nucleotide variant not provided [RCV002627751] Chr11:118491923 [GRCh38]
Chr11:118362638 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.9566T>C (p.Ile3189Thr) single nucleotide variant not provided [RCV002598064] Chr11:118505458 [GRCh38]
Chr11:118376173 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.10085C>T (p.Pro3362Leu) single nucleotide variant not provided [RCV003046330] Chr11:118505977 [GRCh38]
Chr11:118376692 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.3889C>T (p.Gln1297Ter) single nucleotide variant Inborn genetic diseases [RCV002717529] Chr11:118481969 [GRCh38]
Chr11:118352684 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.10278A>G (p.Ala3426=) single nucleotide variant not provided [RCV002627800] Chr11:118506170 [GRCh38]
Chr11:118376885 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.5805A>G (p.Arg1935=) single nucleotide variant not provided [RCV003028345] Chr11:118498372 [GRCh38]
Chr11:118369087 [GRCh37]
Chr11:11q23.3		 likely benign|uncertain significance
NM_001197104.2(KMT2A):c.4480-14dup duplication not provided [RCV002600350] Chr11:118489777..118489778 [GRCh38]
Chr11:118360492..118360493 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.484C>T (p.Pro162Ser) single nucleotide variant not provided [RCV002895433] Chr11:118468826 [GRCh38]
Chr11:118339541 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.9870A>G (p.Lys3290=) single nucleotide variant not provided [RCV002933985] Chr11:118505762 [GRCh38]
Chr11:118376477 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.6522C>A (p.Thr2174=) single nucleotide variant not provided [RCV002632009] Chr11:118502414 [GRCh38]
Chr11:118373129 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.4620T>C (p.Thr1540=) single nucleotide variant not provided [RCV002857627] Chr11:118490173 [GRCh38]
Chr11:118360888 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.11643G>A (p.Lys3881=) single nucleotide variant Inborn genetic diseases [RCV002719183] Chr11:118521417 [GRCh38]
Chr11:118392132 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.8963C>G (p.Pro2988Arg) single nucleotide variant not provided [RCV002627698] Chr11:118504855 [GRCh38]
Chr11:118375570 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.9116C>G (p.Ser3039Cys) single nucleotide variant not provided [RCV002833737] Chr11:118505008 [GRCh38]
Chr11:118375723 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.2543G>A (p.Gly848Glu) single nucleotide variant not provided [RCV002899626] Chr11:118473702 [GRCh38]
Chr11:118344417 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.10087G>A (p.Gly3363Arg) single nucleotide variant not provided [RCV002650115] Chr11:118505979 [GRCh38]
Chr11:118376694 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.7053C>T (p.Ile2351=) single nucleotide variant not provided [RCV002720307] Chr11:118502945 [GRCh38]
Chr11:118373660 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.132C>A (p.Pro44=) single nucleotide variant not provided [RCV002645947] Chr11:118436644 [GRCh38]
Chr11:118307359 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.3198C>A (p.Pro1066=) single nucleotide variant not provided [RCV003044076] Chr11:118476846 [GRCh38]
Chr11:118347561 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.9957A>T (p.Thr3319=) single nucleotide variant not provided [RCV002670986] Chr11:118505849 [GRCh38]
Chr11:118376564 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.10172A>G (p.Gln3391Arg) single nucleotide variant not provided [RCV002630703] Chr11:118506064 [GRCh38]
Chr11:118376779 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.10835+13A>G single nucleotide variant not provided [RCV003047819] Chr11:118507622 [GRCh38]
Chr11:118378337 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.3772A>G (p.Ser1258Gly) single nucleotide variant not provided [RCV003044828] Chr11:118481852 [GRCh38]
Chr11:118352567 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.6686C>T (p.Ser2229Leu) single nucleotide variant not provided [RCV002717006] Chr11:118502578 [GRCh38]
Chr11:118373293 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.7628A>G (p.Lys2543Arg) single nucleotide variant not provided [RCV003063791] Chr11:118503520 [GRCh38]
Chr11:118374235 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.8140C>A (p.Leu2714Ile) single nucleotide variant not provided [RCV002628008] Chr11:118504032 [GRCh38]
Chr11:118374747 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.7116C>T (p.His2372=) single nucleotide variant not provided [RCV003047326] Chr11:118503008 [GRCh38]
Chr11:118373723 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.4701C>T (p.Asn1567=) single nucleotide variant not provided [RCV003091090] Chr11:118491200 [GRCh38]
Chr11:118361915 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.11513+7C>A single nucleotide variant not provided [RCV003086252] Chr11:118520892 [GRCh38]
Chr11:118391607 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.5163G>T (p.Gly1721=) single nucleotide variant not provided [RCV003010021] Chr11:118493215 [GRCh38]
Chr11:118363930 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.10901-8C>T single nucleotide variant not provided [RCV002597604] Chr11:118509940 [GRCh38]
Chr11:118380655 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.1099A>G (p.Thr367Ala) single nucleotide variant not provided [RCV002671129] Chr11:118472258 [GRCh38]
Chr11:118342973 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.351G>A (p.Gln117=) single nucleotide variant not provided [RCV002834354] Chr11:118436863 [GRCh38]
Chr11:118307578 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.973G>C (p.Glu325Gln) single nucleotide variant not provided [RCV003029943] Chr11:118472132 [GRCh38]
Chr11:118342847 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.10895G>C (p.Ser3632Thr) single nucleotide variant not provided [RCV002966209] Chr11:118509195 [GRCh38]
Chr11:118379910 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.2714T>C (p.Leu905Ser) single nucleotide variant KMT2A-related condition [RCV003418594]|not provided [RCV002716360] Chr11:118473873 [GRCh38]
Chr11:118344588 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.1725C>T (p.Ala575=) single nucleotide variant not provided [RCV002601752] Chr11:118472884 [GRCh38]
Chr11:118343599 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.5487T>A (p.Ala1829=) single nucleotide variant not provided [RCV002922566] Chr11:118495823 [GRCh38]
Chr11:118366538 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.4356T>C (p.Cys1452=) single nucleotide variant not provided [RCV002856589] Chr11:118488637 [GRCh38]
Chr11:118359352 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.1781C>T (p.Ser594Leu) single nucleotide variant not provided [RCV002834888] Chr11:118472940 [GRCh38]
Chr11:118343655 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.9955A>G (p.Thr3319Ala) single nucleotide variant not provided [RCV002600414] Chr11:118505847 [GRCh38]
Chr11:118376562 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.9909C>A (p.Pro3303=) single nucleotide variant not provided [RCV002877144] Chr11:118505801 [GRCh38]
Chr11:118376516 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.532A>G (p.Arg178Gly) single nucleotide variant not provided [RCV002834483] Chr11:118471691 [GRCh38]
Chr11:118342406 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.7128A>G (p.Arg2376=) single nucleotide variant not provided [RCV002649500] Chr11:118503020 [GRCh38]
Chr11:118373735 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.4595G>A (p.Arg1532His) single nucleotide variant not provided [RCV002716904] Chr11:118490148 [GRCh38]
Chr11:118360863 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.11657A>G (p.Tyr3886Cys) single nucleotide variant not provided [RCV003047314] Chr11:118521910 [GRCh38]
Chr11:118392625 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.9724A>G (p.Thr3242Ala) single nucleotide variant not provided [RCV002598365] Chr11:118505616 [GRCh38]
Chr11:118376331 [GRCh37]
Chr11:11q23.3		 benign
NM_001197104.2(KMT2A):c.11146+14G>A single nucleotide variant not provided [RCV002857256] Chr11:118512039 [GRCh38]
Chr11:118382754 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.9695G>A (p.Arg3232Gln) single nucleotide variant Inborn genetic diseases [RCV002599666]|not provided [RCV002599665] Chr11:118505587 [GRCh38]
Chr11:118376302 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.3994C>T (p.Pro1332Ser) single nucleotide variant not provided [RCV002630200] Chr11:118482074 [GRCh38]
Chr11:118352789 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.9668A>T (p.Lys3223Ile) single nucleotide variant not provided [RCV002580515] Chr11:118505560 [GRCh38]
Chr11:118376275 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.10901-9C>T single nucleotide variant not provided [RCV003031775] Chr11:118509939 [GRCh38]
Chr11:118380654 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.11600G>A (p.Arg3867His) single nucleotide variant not provided [RCV003065849] Chr11:118521374 [GRCh38]
Chr11:118392089 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.130C>T (p.Pro44Ser) single nucleotide variant not provided [RCV002720117] Chr11:118436642 [GRCh38]
Chr11:118307357 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.2702G>A (p.Ser901Asn) single nucleotide variant Inborn genetic diseases [RCV002580584]|not provided [RCV002580583] Chr11:118473861 [GRCh38]
Chr11:118344576 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.1035G>A (p.Lys345=) single nucleotide variant not provided [RCV002676355] Chr11:118472194 [GRCh38]
Chr11:118342909 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.11185G>A (p.Ala3729Thr) single nucleotide variant not provided [RCV002877621] Chr11:118519656 [GRCh38]
Chr11:118390371 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.11071+7G>A single nucleotide variant not provided [RCV002770079] Chr11:118510125 [GRCh38]
Chr11:118380840 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.5961+15G>C single nucleotide variant not provided [RCV003048316] Chr11:118498543 [GRCh38]
Chr11:118369258 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.711T>G (p.His237Gln) single nucleotide variant not provided [RCV003031328] Chr11:118471870 [GRCh38]
Chr11:118342585 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.3163G>C (p.Glu1055Gln) single nucleotide variant not provided [RCV002806254] Chr11:118476811 [GRCh38]
Chr11:118347526 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.11040T>C (p.Asp3680=) single nucleotide variant not provided [RCV002597737] Chr11:118510087 [GRCh38]
Chr11:118380802 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.554G>A (p.Arg185Gln) single nucleotide variant not provided [RCV003091739] Chr11:118471713 [GRCh38]
Chr11:118342428 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.4696+6C>T single nucleotide variant not provided [RCV003047139] Chr11:118490255 [GRCh38]
Chr11:118360970 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.1741C>T (p.His581Tyr) single nucleotide variant not provided [RCV003047536] Chr11:118472900 [GRCh38]
Chr11:118343615 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.2856T>C (p.Asp952=) single nucleotide variant not provided [RCV002857460] Chr11:118474015 [GRCh38]
Chr11:118344730 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.1343A>G (p.Asn448Ser) single nucleotide variant not provided [RCV002717195] Chr11:118472502 [GRCh38]
Chr11:118343217 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.7552C>T (p.Pro2518Ser) single nucleotide variant not provided [RCV002650161] Chr11:118503444 [GRCh38]
Chr11:118374159 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.2062T>G (p.Phe688Val) single nucleotide variant not provided [RCV002577886] Chr11:118473221 [GRCh38]
Chr11:118343936 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.8280A>G (p.Arg2760=) single nucleotide variant not provided [RCV003046746] Chr11:118504172 [GRCh38]
Chr11:118374887 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.3156+12C>T single nucleotide variant not provided [RCV002645826] Chr11:118474327 [GRCh38]
Chr11:118345042 [GRCh37]
Chr11:11q23.3		 benign
NM_001197104.2(KMT2A):c.11429G>A (p.Arg3810Gln) single nucleotide variant not provided [RCV002646740] Chr11:118520064 [GRCh38]
Chr11:118390779 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.4401G>A (p.Leu1467=) single nucleotide variant not provided [RCV003029315] Chr11:118488682 [GRCh38]
Chr11:118359397 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.7347T>C (p.Phe2449=) single nucleotide variant not provided [RCV002581236] Chr11:118503239 [GRCh38]
Chr11:118373954 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.1557A>C (p.Pro519=) single nucleotide variant not provided [RCV002877411] Chr11:118472716 [GRCh38]
Chr11:118343431 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.8042A>G (p.Asp2681Gly) single nucleotide variant not provided [RCV002600408] Chr11:118503934 [GRCh38]
Chr11:118374649 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.4405G>A (p.Asp1469Asn) single nucleotide variant not provided [RCV002598866] Chr11:118488686 [GRCh38]
Chr11:118359401 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.10842C>T (p.Val3614=) single nucleotide variant KMT2A-related condition [RCV003916748]|not provided [RCV003089410] Chr11:118509142 [GRCh38]
Chr11:118379857 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.6887C>T (p.Ala2296Val) single nucleotide variant not provided [RCV002834949] Chr11:118502779 [GRCh38]
Chr11:118373494 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.6505+10T>G single nucleotide variant not provided [RCV002631370] Chr11:118501867 [GRCh38]
Chr11:118372582 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.2522C>T (p.Pro841Leu) single nucleotide variant not provided [RCV002627442] Chr11:118473681 [GRCh38]
Chr11:118344396 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.6194G>A (p.Arg2065His) single nucleotide variant not provided [RCV002646397] Chr11:118501022 [GRCh38]
Chr11:118371737 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.3335-5A>G single nucleotide variant not provided [RCV003087983] Chr11:118477962 [GRCh38]
Chr11:118348677 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.5583T>G (p.Ser1861Arg) single nucleotide variant not provided [RCV002634927] Chr11:118496286 [GRCh38]
Chr11:118367001 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.304G>A (p.Gly102Arg) single nucleotide variant not provided [RCV002722059] Chr11:118436816 [GRCh38]
Chr11:118307531 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.1286T>C (p.Ile429Thr) single nucleotide variant not provided [RCV003050426] Chr11:118472445 [GRCh38]
Chr11:118343160 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.5959G>C (p.Glu1987Gln) single nucleotide variant not provided [RCV002725941] Chr11:118498526 [GRCh38]
Chr11:118369241 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.3180G>T (p.Glu1060Asp) single nucleotide variant not provided [RCV002635252] Chr11:118476828 [GRCh38]
Chr11:118347543 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.303A>C (p.Ser101=) single nucleotide variant not provided [RCV002582407] Chr11:118436815 [GRCh38]
Chr11:118307530 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.9890T>C (p.Met3297Thr) single nucleotide variant not provided [RCV002722132] Chr11:118505782 [GRCh38]
Chr11:118376497 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.5776A>G (p.Met1926Val) single nucleotide variant not provided [RCV003092801] Chr11:118498047 [GRCh38]
Chr11:118368762 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.502+4C>T single nucleotide variant not provided [RCV002583598] Chr11:118468848 [GRCh38]
Chr11:118339563 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.7155C>T (p.His2385=) single nucleotide variant not provided [RCV002582552] Chr11:118503047 [GRCh38]
Chr11:118373762 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.4479+10T>C single nucleotide variant not provided [RCV002657952] Chr11:118488770 [GRCh38]
Chr11:118359485 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.1796C>T (p.Ala599Val) single nucleotide variant not provided [RCV003052039] Chr11:118472955 [GRCh38]
Chr11:118343670 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.188CGG[8] (p.Ala67_Gly68insAlaAlaAla) microsatellite not provided [RCV002653835] Chr11:118436698..118436699 [GRCh38]
Chr11:118307413..118307414 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.4860G>A (p.Val1620=) single nucleotide variant not provided [RCV002676702] Chr11:118491784 [GRCh38]
Chr11:118362499 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.4010C>T (p.Ser1337Leu) single nucleotide variant not provided [RCV002603549] Chr11:118482090 [GRCh38]
Chr11:118352805 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.471C>T (p.Val157=) single nucleotide variant not provided [RCV002721903] Chr11:118468813 [GRCh38]
Chr11:118339528 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.5382C>T (p.Asn1794=) single nucleotide variant not provided [RCV002583926] Chr11:118495718 [GRCh38]
Chr11:118366433 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.4012+8A>G single nucleotide variant not provided [RCV002721322] Chr11:118482100 [GRCh38]
Chr11:118352815 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.300T>C (p.Ser100=) single nucleotide variant not provided [RCV002582406] Chr11:118436812 [GRCh38]
Chr11:118307527 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.5962-15T>C single nucleotide variant not provided [RCV002635886] Chr11:118499288 [GRCh38]
Chr11:118370003 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.2230A>G (p.Ile744Val) single nucleotide variant not provided [RCV002725271] Chr11:118473389 [GRCh38]
Chr11:118344104 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.31G>A (p.Ala11Thr) single nucleotide variant Wiedemann-Steiner syndrome [RCV003148511] Chr11:118436543 [GRCh38]
Chr11:118307258 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.1568G>A (p.Ser523Asn) single nucleotide variant not provided [RCV002603196] Chr11:118472727 [GRCh38]
Chr11:118343442 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.10280C>G (p.Ser3427Cys) single nucleotide variant not provided [RCV003066321] Chr11:118506172 [GRCh38]
Chr11:118376887 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.5040G>A (p.Glu1680=) single nucleotide variant not provided [RCV002604932] Chr11:118493092 [GRCh38]
Chr11:118363807 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.6233G>A (p.Arg2078His) single nucleotide variant not provided [RCV002605588] Chr11:118501061 [GRCh38]
Chr11:118371776 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.2557A>C (p.Lys853Gln) single nucleotide variant not provided [RCV002588933] Chr11:118473716 [GRCh38]
Chr11:118344431 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.9405C>G (p.Thr3135=) single nucleotide variant not provided [RCV002587664] Chr11:118505297 [GRCh38]
Chr11:118376012 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.4002A>G (p.Pro1334=) single nucleotide variant not provided [RCV002609528] Chr11:118482082 [GRCh38]
Chr11:118352797 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.10864G>T (p.Val3622Leu) single nucleotide variant not provided [RCV002582501] Chr11:118509164 [GRCh38]
Chr11:118379879 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.10868C>T (p.Thr3623Ile) single nucleotide variant not provided [RCV002582502] Chr11:118509168 [GRCh38]
Chr11:118379883 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.1483G>A (p.Glu495Lys) single nucleotide variant not provided [RCV002677015] Chr11:118472642 [GRCh38]
Chr11:118343357 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.10806C>T (p.Ser3602=) single nucleotide variant not provided [RCV003050448] Chr11:118507580 [GRCh38]
Chr11:118378295 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.5549C>T (p.Pro1850Leu) single nucleotide variant not provided [RCV002586841] Chr11:118495885 [GRCh38]
Chr11:118366600 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.1826A>G (p.Lys609Arg) single nucleotide variant not provided [RCV003071717] Chr11:118472985 [GRCh38]
Chr11:118343700 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.10824G>A (p.Gly3608=) single nucleotide variant not provided [RCV002721784] Chr11:118507598 [GRCh38]
Chr11:118378313 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.7741A>G (p.Thr2581Ala) single nucleotide variant not provided [RCV002610134] Chr11:118503633 [GRCh38]
Chr11:118374348 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.5851A>G (p.Thr1951Ala) single nucleotide variant not provided [RCV002725712] Chr11:118498418 [GRCh38]
Chr11:118369133 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.3335-7T>A single nucleotide variant not provided [RCV003049476] Chr11:118477960 [GRCh38]
Chr11:118348675 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.10754+1G>A single nucleotide variant Inborn genetic diseases [RCV002722948] Chr11:118506647 [GRCh38]
Chr11:118377362 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.7078G>C (p.Val2360Leu) single nucleotide variant not provided [RCV002680747] Chr11:118502970 [GRCh38]
Chr11:118373685 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.10195C>T (p.Pro3399Ser) single nucleotide variant not provided [RCV002610733] Chr11:118506087 [GRCh38]
Chr11:118376802 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.2312C>T (p.Thr771Ile) single nucleotide variant not provided [RCV003032023] Chr11:118473471 [GRCh38]
Chr11:118344186 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.10840G>C (p.Val3614Leu) single nucleotide variant Wiedemann-Steiner syndrome [RCV003148204] Chr11:118509140 [GRCh38]
Chr11:118379855 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.4054A>G (p.Ser1352Gly) single nucleotide variant Autism spectrum disorder [RCV003126255]|not provided [RCV002583509] Chr11:118482463 [GRCh38]
Chr11:118353178 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.616T>C (p.Ser206Pro) single nucleotide variant not provided [RCV002607184] Chr11:118471775 [GRCh38]
Chr11:118342490 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.1575T>C (p.Asp525=) single nucleotide variant not provided [RCV002607185] Chr11:118472734 [GRCh38]
Chr11:118343449 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.3138C>T (p.Thr1046=) single nucleotide variant not provided [RCV002607186] Chr11:118474297 [GRCh38]
Chr11:118345012 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.4632G>A (p.Gly1544=) single nucleotide variant not provided [RCV002608938] Chr11:118490185 [GRCh38]
Chr11:118360900 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.8511C>T (p.Asp2837=) single nucleotide variant not provided [RCV002605661] Chr11:118504403 [GRCh38]
Chr11:118375118 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.2181TTC[1] (p.Ser729del) microsatellite not provided [RCV002613101] Chr11:118473338..118473340 [GRCh38]
Chr11:118344053..118344055 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.6588G>A (p.Arg2196=) single nucleotide variant not provided [RCV002613111] Chr11:118502480 [GRCh38]
Chr11:118373195 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.7377G>C (p.Glu2459Asp) single nucleotide variant not provided [RCV003052400] Chr11:118503269 [GRCh38]
Chr11:118373984 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.850A>C (p.Lys284Gln) single nucleotide variant not provided [RCV002586770] Chr11:118472009 [GRCh38]
Chr11:118342724 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.8909T>C (p.Val2970Ala) single nucleotide variant not provided [RCV002583851] Chr11:118504801 [GRCh38]
Chr11:118375516 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.7222T>C (p.Ser2408Pro) single nucleotide variant not provided [RCV002680784] Chr11:118503114 [GRCh38]
Chr11:118373829 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.11523C>T (p.Ile3841=) single nucleotide variant not provided [RCV002611470] Chr11:118521297 [GRCh38]
Chr11:118392012 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.7687T>G (p.Ser2563Ala) single nucleotide variant not provided [RCV002582870] Chr11:118503579 [GRCh38]
Chr11:118374294 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.4253G>A (p.Gly1418Glu) single nucleotide variant not provided [RCV002722031] Chr11:118484896 [GRCh38]
Chr11:118355611 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.11321+14T>A single nucleotide variant not provided [RCV002589136] Chr11:118519806 [GRCh38]
Chr11:118390521 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.5545C>A (p.Pro1849Thr) single nucleotide variant not provided [RCV002589197] Chr11:118495881 [GRCh38]
Chr11:118366596 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.9495A>C (p.Leu3165Phe) single nucleotide variant not provided [RCV002587242] Chr11:118505387 [GRCh38]
Chr11:118376102 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.6261C>T (p.Asn2087=) single nucleotide variant not provided [RCV002606562] Chr11:118501089 [GRCh38]
Chr11:118371804 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.479G>A (p.Arg160Gln) single nucleotide variant not provided [RCV002606581] Chr11:118468821 [GRCh38]
Chr11:118339536 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.5290-17T>C single nucleotide variant not provided [RCV002605229] Chr11:118494677 [GRCh38]
Chr11:118365392 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.4281T>C (p.Pro1427=) single nucleotide variant not provided [RCV002608464] Chr11:118484924 [GRCh38]
Chr11:118355639 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.9912G>A (p.Leu3304=) single nucleotide variant not provided [RCV002653747] Chr11:118505804 [GRCh38]
Chr11:118376519 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.8593G>A (p.Ala2865Thr) single nucleotide variant not provided [RCV002586077] Chr11:118504485 [GRCh38]
Chr11:118375200 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.2213G>T (p.Arg738Ile) single nucleotide variant not provided [RCV003070690] Chr11:118473372 [GRCh38]
Chr11:118344087 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.10187A>G (p.Gln3396Arg) single nucleotide variant not provided [RCV002586174] Chr11:118506079 [GRCh38]
Chr11:118376794 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.1975G>C (p.Glu659Gln) single nucleotide variant not provided [RCV003070839] Chr11:118473134 [GRCh38]
Chr11:118343849 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.7955G>T (p.Ser2652Ile) single nucleotide variant not provided [RCV003073091] Chr11:118503847 [GRCh38]
Chr11:118374562 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.421G>A (p.Gly141Ser) single nucleotide variant not provided [RCV002589983] Chr11:118436933 [GRCh38]
Chr11:118307648 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.8995C>G (p.Gln2999Glu) single nucleotide variant not provided [RCV002590096] Chr11:118504887 [GRCh38]
Chr11:118375602 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.3065G>A (p.Arg1022Lys) single nucleotide variant not provided [RCV003154423] Chr11:118474224 [GRCh38]
Chr11:118344939 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.1064T>C (p.Ile355Thr) single nucleotide variant Wiedemann-Steiner syndrome [RCV003131379] Chr11:118472223 [GRCh38]
Chr11:118342938 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.5004G>A (p.Gln1668=) single nucleotide variant not provided [RCV003229369] Chr11:118491928 [GRCh38]
Chr11:118362643 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.11123G>C (p.Arg3708Pro) single nucleotide variant Wiedemann-Steiner syndrome [RCV003223473] Chr11:118512002 [GRCh38]
Chr11:118382717 [GRCh37]
Chr11:11q23.3		 likely pathogenic
NM_001197104.2(KMT2A):c.7337G>A (p.Ser2446Asn) single nucleotide variant Inborn genetic diseases [RCV003193357] Chr11:118503229 [GRCh38]
Chr11:118373944 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.3070dup (p.Ala1024fs) duplication Wiedemann-Steiner syndrome [RCV003146832] Chr11:118474228..118474229 [GRCh38]
Chr11:118344943..118344944 [GRCh37]
Chr11:11q23.3		 likely pathogenic
NM_001197104.2(KMT2A):c.6079+2T>C single nucleotide variant Wiedemann-Steiner syndrome [RCV003146836]|not provided [RCV003565621] Chr11:118499422 [GRCh38]
Chr11:118370137 [GRCh37]
Chr11:11q23.3		 likely pathogenic
NM_001197104.2(KMT2A):c.1931G>A (p.Arg644His) single nucleotide variant not provided [RCV003223860] Chr11:118473090 [GRCh38]
Chr11:118343805 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.1A>T (p.Met1Leu) single nucleotide variant Wiedemann-Steiner syndrome [RCV003133899] Chr11:118436513 [GRCh38]
Chr11:118307228 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.11072-1G>A single nucleotide variant Wiedemann-Steiner syndrome [RCV003226091] Chr11:118511950 [GRCh38]
Chr11:118382665 [GRCh37]
Chr11:11q23.3		 uncertain significance
GRCh37/hg19 11q23.3(chr11:118354898-118355690)x1 copy number loss not provided [RCV003222747] Chr11:118354898..118355690 [GRCh37]
Chr11:11q23.3		 likely pathogenic
NM_001197104.2(KMT2A):c.1144G>A (p.Gly382Arg) single nucleotide variant Inborn genetic diseases [RCV003205789] Chr11:118472303 [GRCh38]
Chr11:118343018 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.4885G>A (p.Glu1629Lys) single nucleotide variant not provided [RCV003227217] Chr11:118491809 [GRCh38]
Chr11:118362524 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.5552T>G (p.Ile1851Ser) single nucleotide variant not provided [RCV003729252] Chr11:118495888 [GRCh38]
Chr11:118366603 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.1340C>T (p.Pro447Leu) single nucleotide variant Inborn genetic diseases [RCV003197933]|not provided [RCV003443180] Chr11:118472499 [GRCh38]
Chr11:118343214 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.841C>G (p.Leu281Val) single nucleotide variant not provided [RCV003720811]|not specified [RCV003226708] Chr11:118472000 [GRCh38]
Chr11:118342715 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.9751G>T (p.Val3251Leu) single nucleotide variant not provided [RCV003159448] Chr11:118505643 [GRCh38]
Chr11:118376358 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.3248G>A (p.Arg1083Gln) single nucleotide variant Wiedemann-Steiner syndrome [RCV003984869]|not provided [RCV003222744] Chr11:118476896 [GRCh38]
Chr11:118347611 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.4069C>T (p.Gln1357Ter) single nucleotide variant not provided [RCV003228363] Chr11:118482478 [GRCh38]
Chr11:118353193 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.3436G>T (p.Val1146Leu) single nucleotide variant Inborn genetic diseases [RCV003203511] Chr11:118478068 [GRCh38]
Chr11:118348783 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.3044del (p.Lys1015fs) deletion not provided [RCV003322251] Chr11:118474202 [GRCh38]
Chr11:118344917 [GRCh37]
Chr11:11q23.3		 likely pathogenic
NM_001197104.2(KMT2A):c.3376G>A (p.Ala1126Thr) single nucleotide variant Inborn genetic diseases [RCV003308754] Chr11:118478008 [GRCh38]
Chr11:118348723 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.1141A>G (p.Lys381Glu) single nucleotide variant not provided [RCV003319817] Chr11:118472300 [GRCh38]
Chr11:118343015 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.4597T>C (p.Cys1533Arg) single nucleotide variant not provided [RCV003323003] Chr11:118490150 [GRCh38]
Chr11:118360865 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.9799A>C (p.Asn3267His) single nucleotide variant not provided [RCV003321146] Chr11:118505691 [GRCh38]
Chr11:118376406 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.9103C>T (p.Gln3035Ter) single nucleotide variant not provided [RCV003325058] Chr11:118504995 [GRCh38]
Chr11:118375710 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.6897G>T (p.Leu2299Phe) single nucleotide variant not provided [RCV003329917] Chr11:118502789 [GRCh38]
Chr11:118373504 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.3559C>T (p.Gln1187Ter) single nucleotide variant not provided [RCV003329032] Chr11:118478191 [GRCh38]
Chr11:118348906 [GRCh37]
Chr11:11q23.3		 likely pathogenic
NM_001197104.2(KMT2A):c.7792G>A (p.Asp2598Asn) single nucleotide variant not provided [RCV003328805] Chr11:118503684 [GRCh38]
Chr11:118374399 [GRCh37]
Chr11:11q23.3		 uncertain significance
GRCh37/hg19 11q23.3(chr11:118373113-118430576)x3 copy number gain not provided [RCV003326848] Chr11:118373113..118430576 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.8136T>G (p.Cys2712Trp) single nucleotide variant not provided [RCV003325920] Chr11:118504028 [GRCh38]
Chr11:118374743 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.2470G>C (p.Ala824Pro) single nucleotide variant not provided [RCV003398164] Chr11:118473629 [GRCh38]
Chr11:118344344 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.3605C>G (p.Ser1202Cys) single nucleotide variant not provided [RCV003424808] Chr11:118480209 [GRCh38]
Chr11:118350924 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.4878C>G (p.Asn1626Lys) single nucleotide variant not provided [RCV003424810] Chr11:118491802 [GRCh38]
Chr11:118362517 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.9759T>C (p.Ser3253=) single nucleotide variant not provided [RCV003424817] Chr11:118505651 [GRCh38]
Chr11:118376366 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.5117AGC[3] (p.Gln1707_Pro1708insGln) microsatellite not provided [RCV003328964] Chr11:118493167..118493168 [GRCh38]
Chr11:118363882..118363883 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.3040G>C (p.Asp1014His) single nucleotide variant not provided [RCV003328868] Chr11:118474199 [GRCh38]
Chr11:118344914 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.3704A>C (p.Lys1235Thr) single nucleotide variant Inborn genetic diseases [RCV003357864]|not provided [RCV003708782] Chr11:118481784 [GRCh38]
Chr11:118352499 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.3463T>C (p.Cys1155Arg) single nucleotide variant Wiedemann-Steiner syndrome [RCV003336653] Chr11:118478095 [GRCh38]
Chr11:118348810 [GRCh37]
Chr11:11q23.3		 likely pathogenic
NM_001197104.2(KMT2A):c.7913A>G (p.Tyr2638Cys) single nucleotide variant not provided [RCV003387619] Chr11:118503805 [GRCh38]
Chr11:118374520 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.1249A>G (p.Ile417Val) single nucleotide variant not provided [RCV003332711] Chr11:118472408 [GRCh38]
Chr11:118343123 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.3763A>G (p.Lys1255Glu) single nucleotide variant Inborn genetic diseases [RCV003379611] Chr11:118481843 [GRCh38]
Chr11:118352558 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.9539T>G (p.Ile3180Ser) single nucleotide variant Inborn genetic diseases [RCV003369369] Chr11:118505431 [GRCh38]
Chr11:118376146 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.4013-2A>G single nucleotide variant Wiedemann-Steiner syndrome [RCV003456323] Chr11:118482420 [GRCh38]
Chr11:118353135 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.11260G>A (p.Glu3754Lys) single nucleotide variant Inborn genetic diseases [RCV003349962] Chr11:118519731 [GRCh38]
Chr11:118390446 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.7248del (p.Ile2417fs) deletion Wiedemann-Steiner syndrome [RCV003333328] Chr11:118503139 [GRCh38]
Chr11:118373854 [GRCh37]
Chr11:11q23.3		 likely pathogenic
NM_001197104.2(KMT2A):c.6922G>A (p.Gly2308Arg) single nucleotide variant Inborn genetic diseases [RCV003374192]|not provided [RCV003679195] Chr11:118502814 [GRCh38]
Chr11:118373529 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.172C>A (p.Pro58Thr) single nucleotide variant Inborn genetic diseases [RCV003374488]|not provided [RCV003778067] Chr11:118436684 [GRCh38]
Chr11:118307399 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.7553_7565del (p.Pro2518fs) deletion Wiedemann-Steiner syndrome [RCV003335945] Chr11:118503441..118503453 [GRCh38]
Chr11:118374156..118374168 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.10128A>C (p.Pro3376=) single nucleotide variant not provided [RCV003569408] Chr11:118506020 [GRCh38]
Chr11:118376735 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.10076C>G (p.Ala3359Gly) single nucleotide variant not provided [RCV003570083] Chr11:118505968 [GRCh38]
Chr11:118376683 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.6773G>C (p.Ser2258Thr) single nucleotide variant not provided [RCV003571200] Chr11:118502665 [GRCh38]
Chr11:118373380 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.7917A>G (p.Gly2639=) single nucleotide variant not provided [RCV003875295] Chr11:118503809 [GRCh38]
Chr11:118374524 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.6079+12C>G single nucleotide variant not provided [RCV003875240] Chr11:118499432 [GRCh38]
Chr11:118370147 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.2341A>G (p.Ser781Gly) single nucleotide variant not provided [RCV003456792] Chr11:118473500 [GRCh38]
Chr11:118344215 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.7990G>A (p.Ala2664Thr) single nucleotide variant not provided [RCV003691921] Chr11:118503882 [GRCh38]
Chr11:118374597 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.11468T>C (p.Phe3823Ser) single nucleotide variant not provided [RCV003543355] Chr11:118520840 [GRCh38]
Chr11:118391555 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.2267G>A (p.Arg756Lys) single nucleotide variant not provided [RCV003543465] Chr11:118473426 [GRCh38]
Chr11:118344141 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.3797C>G (p.Pro1266Arg) single nucleotide variant not provided [RCV003875294] Chr11:118481877 [GRCh38]
Chr11:118352592 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.1625C>T (p.Thr542Met) single nucleotide variant not provided [RCV003873637] Chr11:118472784 [GRCh38]
Chr11:118343499 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.8908G>A (p.Val2970Ile) single nucleotide variant not provided [RCV003570262] Chr11:118504800 [GRCh38]
Chr11:118375515 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.9822G>C (p.Leu3274Phe) single nucleotide variant not provided [RCV003570408] Chr11:118505714 [GRCh38]
Chr11:118376429 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.5665-6T>G single nucleotide variant not provided [RCV003686363] Chr11:118497930 [GRCh38]
Chr11:118368645 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.3649_3654del (p.Glu1217_Lys1218del) deletion not provided [RCV003873738] Chr11:118481724..118481729 [GRCh38]
Chr11:118352439..118352444 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.432+8G>A single nucleotide variant not provided [RCV003570884] Chr11:118436952 [GRCh38]
Chr11:118307667 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.10285A>G (p.Ile3429Val) single nucleotide variant not provided [RCV003570089] Chr11:118506177 [GRCh38]
Chr11:118376892 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.5803-3del deletion not provided [RCV003571763] Chr11:118498363 [GRCh38]
Chr11:118369078 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.11544T>C (p.Cys3848=) single nucleotide variant not provided [RCV003571766] Chr11:118521318 [GRCh38]
Chr11:118392033 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.1581A>T (p.Arg527Ser) single nucleotide variant not provided [RCV003569167] Chr11:118472740 [GRCh38]
Chr11:118343455 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.1147G>A (p.Ala383Thr) single nucleotide variant not provided [RCV003571363] Chr11:118472306 [GRCh38]
Chr11:118343021 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.10409C>T (p.Ser3470Phe) single nucleotide variant not provided [RCV003875486] Chr11:118506301 [GRCh38]
Chr11:118377016 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.133C>A (p.Pro45Thr) single nucleotide variant not provided [RCV003543554] Chr11:118436645 [GRCh38]
Chr11:118307360 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.7206C>G (p.Val2402=) single nucleotide variant not provided [RCV003571030] Chr11:118503098 [GRCh38]
Chr11:118373813 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.1403A>G (p.His468Arg) single nucleotide variant not provided [RCV003570879] Chr11:118472562 [GRCh38]
Chr11:118343277 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.3481T>A (p.Cys1161Ser) single nucleotide variant not provided [RCV003543127] Chr11:118478113 [GRCh38]
Chr11:118348828 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.3559C>G (p.Gln1187Glu) single nucleotide variant not provided [RCV003543342] Chr11:118478191 [GRCh38]
Chr11:118348906 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.3757del (p.Ala1253fs) deletion not provided [RCV003686217] Chr11:118481837 [GRCh38]
Chr11:118352552 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.11346C>A (p.Asn3782Lys) single nucleotide variant not provided [RCV003543760] Chr11:118519981 [GRCh38]
Chr11:118390696 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.8460C>T (p.Asp2820=) single nucleotide variant not provided [RCV003874955] Chr11:118504352 [GRCh38]
Chr11:118375067 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.2449A>G (p.Arg817Gly) single nucleotide variant not provided [RCV003686445] Chr11:118473608 [GRCh38]
Chr11:118344323 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.3542G>A (p.Gly1181Asp) single nucleotide variant Wiedemann-Steiner syndrome [RCV003484455] Chr11:118478174 [GRCh38]
Chr11:118348889 [GRCh37]
Chr11:11q23.3		 likely pathogenic
NM_001197104.2(KMT2A):c.10997A>G (p.Lys3666Arg) single nucleotide variant not provided [RCV003571708] Chr11:118510044 [GRCh38]
Chr11:118380759 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.6589C>T (p.Arg2197Cys) single nucleotide variant not provided [RCV003872924] Chr11:118502481 [GRCh38]
Chr11:118373196 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.8778G>T (p.Leu2926Phe) single nucleotide variant not provided [RCV003690695] Chr11:118504670 [GRCh38]
Chr11:118375385 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.10745C>A (p.Ser3582Ter) single nucleotide variant Wiedemann-Steiner syndrome [RCV003649156] Chr11:118506637 [GRCh38]
Chr11:118377352 [GRCh37]
Chr11:11q23.3		 likely pathogenic
NM_001197104.2(KMT2A):c.7193A>T (p.Glu2398Val) single nucleotide variant not specified [RCV003479974] Chr11:118503085 [GRCh38]
Chr11:118373800 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.4777del (p.Arg1593fs) deletion Wiedemann-Steiner syndrome [RCV003444031] Chr11:118491276 [GRCh38]
Chr11:118361991 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.26T>G (p.Phe9Cys) single nucleotide variant KMT2A-related condition [RCV003403087] Chr11:118436538 [GRCh38]
Chr11:118307253 [GRCh37]
Chr11:11q23.3		 likely pathogenic
NM_001197104.2(KMT2A):c.177T>G (p.Ala59=) single nucleotide variant KMT2A-related condition [RCV003954129]|not provided [RCV003398162] Chr11:118436689 [GRCh38]
Chr11:118307404 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.1324C>G (p.Arg442Gly) single nucleotide variant not provided [RCV003398163] Chr11:118472483 [GRCh38]
Chr11:118343198 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.4866C>T (p.Tyr1622=) single nucleotide variant not provided [RCV003424809] Chr11:118491790 [GRCh38]
Chr11:118362505 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.6596G>A (p.Ser2199Asn) single nucleotide variant not provided [RCV003424813] Chr11:118502488 [GRCh38]
Chr11:118373203 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.9803A>C (p.His3268Pro) single nucleotide variant not provided [RCV003424818] Chr11:118505695 [GRCh38]
Chr11:118376410 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.2541_2542del (p.Gly848fs) microsatellite Wiedemann-Steiner syndrome [RCV003484461] Chr11:118473698..118473699 [GRCh38]
Chr11:118344413..118344414 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.10681T>A (p.Ser3561Thr) single nucleotide variant KMT2A-related condition [RCV003399511]|not provided [RCV003730568] Chr11:118506573 [GRCh38]
Chr11:118377288 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.7970_7973dup (p.Arg2659fs) duplication Wiedemann-Steiner syndrome [RCV003484522] Chr11:118503860..118503861 [GRCh38]
Chr11:118374575..118374576 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.2641G>C (p.Glu881Gln) single nucleotide variant not provided [RCV003398166] Chr11:118473800 [GRCh38]
Chr11:118344515 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.10181G>A (p.Gly3394Glu) single nucleotide variant not provided [RCV003424819] Chr11:118506073 [GRCh38]
Chr11:118376788 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.10487T>C (p.Met3496Thr) single nucleotide variant not provided [RCV003424820] Chr11:118506379 [GRCh38]
Chr11:118377094 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.4524G>C (p.Glu1508Asp) single nucleotide variant Neurodevelopmental disorder [RCV003389191] Chr11:118489836 [GRCh38]
Chr11:118360551 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.11430-250_11643+240del deletion Neurodevelopmental disorder [RCV003389208] Chr11:118520549..118521654 [GRCh38]
Chr11:118391264..118392369 [GRCh37]
Chr11:11q23.3		 likely pathogenic
NM_001197104.2(KMT2A):c.5708A>G (p.His1903Arg) single nucleotide variant KMT2A-related condition [RCV003400136] Chr11:118497979 [GRCh38]
Chr11:118368694 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.8527G>T (p.Asp2843Tyr) single nucleotide variant not provided [RCV003443745] Chr11:118504419 [GRCh38]
Chr11:118375134 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.9449del (p.Pro3150fs) deletion Neurodevelopmental disorder [RCV003389222] Chr11:118505339 [GRCh38]
Chr11:118376054 [GRCh37]
Chr11:11q23.3		 likely pathogenic
NM_001197104.2(KMT2A):c.11429+5G>A single nucleotide variant not provided [RCV003443319] Chr11:118520069 [GRCh38]
Chr11:118390784 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.8824C>T (p.Pro2942Ser) single nucleotide variant not provided [RCV003443757] Chr11:118504716 [GRCh38]
Chr11:118375431 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.7463A>G (p.Asp2488Gly) single nucleotide variant not specified [RCV003388495] Chr11:118503355 [GRCh38]
Chr11:118374070 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.8491C>G (p.Leu2831Val) single nucleotide variant not provided [RCV003443921] Chr11:118504383 [GRCh38]
Chr11:118375098 [GRCh37]
Chr11:11q23.3		 uncertain significance
Single allele duplication not provided [RCV003448710] Chr11:102134973..134945611 [GRCh37]
Chr11:11q22.2-25		 pathogenic
NM_001197104.2(KMT2A):c.65G>C (p.Gly22Ala) single nucleotide variant not provided [RCV003398161] Chr11:118436577 [GRCh38]
Chr11:118307292 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.2478A>G (p.Pro826=) single nucleotide variant not provided [RCV003398165] Chr11:118473637 [GRCh38]
Chr11:118344352 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.2664A>G (p.Ser888=) single nucleotide variant not provided [RCV003398167] Chr11:118473823 [GRCh38]
Chr11:118344538 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.7692C>T (p.Ala2564=) single nucleotide variant not provided [RCV003424814] Chr11:118503584 [GRCh38]
Chr11:118374299 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.7406A>T (p.Asp2469Val) single nucleotide variant KMT2A-related condition [RCV003397340] Chr11:118503298 [GRCh38]
Chr11:118374013 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.3157G>C (p.Gly1053Arg) single nucleotide variant KMT2A-related condition [RCV003397304] Chr11:118476805 [GRCh38]
Chr11:118347520 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.3705G>T (p.Lys1235Asn) single nucleotide variant KMT2A-related condition [RCV003419048] Chr11:118481785 [GRCh38]
Chr11:118352500 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.5942G>A (p.Arg1981Gln) single nucleotide variant KMT2A-related condition [RCV003408568]|not provided [RCV003730580] Chr11:118498509 [GRCh38]
Chr11:118369224 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.3182C>A (p.Thr1061Asn) single nucleotide variant KMT2A-related condition [RCV003412403] Chr11:118476830 [GRCh38]
Chr11:118347545 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.5493A>G (p.Lys1831=) single nucleotide variant not provided [RCV003456793] Chr11:118495829 [GRCh38]
Chr11:118366544 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.6868G>A (p.Glu2290Lys) single nucleotide variant KMT2A-related condition [RCV003414236] Chr11:118502760 [GRCh38]
Chr11:118373475 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.3158G>T (p.Gly1053Val) single nucleotide variant KMT2A-related condition [RCV003414322] Chr11:118476806 [GRCh38]
Chr11:118347521 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.11324A>G (p.Lys3775Arg) single nucleotide variant not provided [RCV003442396] Chr11:118519959 [GRCh38]
Chr11:118390674 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.5171C>T (p.Thr1724Ile) single nucleotide variant not provided [RCV003424811] Chr11:118493223 [GRCh38]
Chr11:118363938 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.5959G>A (p.Glu1987Lys) single nucleotide variant Wiedemann-Steiner syndrome [RCV003444038]|not provided [RCV003575096] Chr11:118498526 [GRCh38]
Chr11:118369241 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.3797C>T (p.Pro1266Leu) single nucleotide variant KMT2A-related condition [RCV003414404] Chr11:118481877 [GRCh38]
Chr11:118352592 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.6299A>G (p.His2100Arg) single nucleotide variant not provided [RCV003424812] Chr11:118501127 [GRCh38]
Chr11:118371842 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.8387G>T (p.Gly2796Val) single nucleotide variant not provided [RCV003424815] Chr11:118504279 [GRCh38]
Chr11:118374994 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.9307C>G (p.Gln3103Glu) single nucleotide variant not provided [RCV003424816] Chr11:118505199 [GRCh38]
Chr11:118375914 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.10854G>A (p.Pro3618=) single nucleotide variant not provided [RCV003424821] Chr11:118509154 [GRCh38]
Chr11:118379869 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.1975G>A (p.Glu659Lys) single nucleotide variant KMT2A-related condition [RCV003402424] Chr11:118473134 [GRCh38]
Chr11:118343849 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.4361C>T (p.Pro1454Leu) single nucleotide variant Wiedemann-Steiner syndrome [RCV003445329] Chr11:118488642 [GRCh38]
Chr11:118359357 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.8992A>T (p.Ile2998Phe) single nucleotide variant Wiedemann-Steiner syndrome [RCV003447727] Chr11:118504884 [GRCh38]
Chr11:118375599 [GRCh37]
Chr11:11q23.3		 likely pathogenic
NM_001197104.2(KMT2A):c.3537T>G (p.Phe1179Leu) single nucleotide variant Wiedemann-Steiner syndrome [RCV003389287]|not provided [RCV003689076] Chr11:118478169 [GRCh38]
Chr11:118348884 [GRCh37]
Chr11:11q23.3		 likely pathogenic|uncertain significance
NM_001197104.2(KMT2A):c.1687C>T (p.Pro563Ser) single nucleotide variant KMT2A-related condition [RCV003427903] Chr11:118472846 [GRCh38]
Chr11:118343561 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.8136dup (p.Asp2713Ter) duplication not provided [RCV003579479] Chr11:118504027..118504028 [GRCh38]
Chr11:118374742..118374743 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.1433G>T (p.Arg478Leu) single nucleotide variant not provided [RCV003696341] Chr11:118472592 [GRCh38]
Chr11:118343307 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.2357C>T (p.Pro786Leu) single nucleotide variant not provided [RCV003579489] Chr11:118473516 [GRCh38]
Chr11:118344231 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.2917A>C (p.Asn973His) single nucleotide variant not provided [RCV003545652] Chr11:118474076 [GRCh38]
Chr11:118344791 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.873A>G (p.Gln291=) single nucleotide variant not provided [RCV003688249] Chr11:118472032 [GRCh38]
Chr11:118342747 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.4696+12del deletion not provided [RCV003660052] Chr11:118490256 [GRCh38]
Chr11:118360971 [GRCh37]
Chr11:11q23.3		 benign
NM_001197104.2(KMT2A):c.6491del (p.Pro2164fs) deletion not provided [RCV003694252] Chr11:118501842 [GRCh38]
Chr11:118372557 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.6079+6A>G single nucleotide variant not provided [RCV003828419] Chr11:118499426 [GRCh38]
Chr11:118370141 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.6506-11C>G single nucleotide variant not provided [RCV003716022] Chr11:118502387 [GRCh38]
Chr11:118373102 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.6211_6214dup (p.Cys2072fs) duplication not provided [RCV003688614] Chr11:118501036..118501037 [GRCh38]
Chr11:118371751..118371752 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.3854A>G (p.Gln1285Arg) single nucleotide variant not provided [RCV003716123] Chr11:118481934 [GRCh38]
Chr11:118352649 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.7720G>A (p.Ala2574Thr) single nucleotide variant not provided [RCV003547497] Chr11:118503612 [GRCh38]
Chr11:118374327 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.11829C>G (p.Leu3943=) single nucleotide variant not provided [RCV003695582] Chr11:118522082 [GRCh38]
Chr11:118392797 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.7111C>T (p.Pro2371Ser) single nucleotide variant not provided [RCV003691307] Chr11:118503003 [GRCh38]
Chr11:118373718 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.5474A>C (p.Lys1825Thr) single nucleotide variant not provided [RCV003696387] Chr11:118495810 [GRCh38]
Chr11:118366525 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.5888G>A (p.Arg1963Gln) single nucleotide variant not provided [RCV003579427] Chr11:118498455 [GRCh38]
Chr11:118369170 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.8369G>A (p.Ser2790Asn) single nucleotide variant not provided [RCV003740170] Chr11:118504261 [GRCh38]
Chr11:118374976 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.7654C>G (p.Gln2552Glu) single nucleotide variant not provided [RCV003579550] Chr11:118503546 [GRCh38]
Chr11:118374261 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.10622C>A (p.Pro3541Gln) single nucleotide variant not provided [RCV003579552] Chr11:118506514 [GRCh38]
Chr11:118377229 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.2324_2325del (p.Ser775fs) deletion not provided [RCV003687580] Chr11:118473482..118473483 [GRCh38]
Chr11:118344197..118344198 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.7088C>T (p.Ser2363Phe) single nucleotide variant not provided [RCV003692525] Chr11:118502980 [GRCh38]
Chr11:118373695 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.9353T>C (p.Met3118Thr) single nucleotide variant not provided [RCV003696647] Chr11:118505245 [GRCh38]
Chr11:118375960 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.7169A>C (p.Gln2390Pro) single nucleotide variant not provided [RCV003686274] Chr11:118503061 [GRCh38]
Chr11:118373776 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.6720A>G (p.Glu2240=) single nucleotide variant not provided [RCV003715362] Chr11:118502612 [GRCh38]
Chr11:118373327 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.1308T>G (p.Pro436=) single nucleotide variant not provided [RCV003694977] Chr11:118472467 [GRCh38]
Chr11:118343182 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.852G>A (p.Lys284=) single nucleotide variant not provided [RCV003830267] Chr11:118472011 [GRCh38]
Chr11:118342726 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.6688G>T (p.Val2230Phe) single nucleotide variant not provided [RCV003696430] Chr11:118502580 [GRCh38]
Chr11:118373295 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.9447C>T (p.Phe3149=) single nucleotide variant not provided [RCV003831652] Chr11:118505339 [GRCh38]
Chr11:118376054 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.3185C>G (p.Ser1062Cys) single nucleotide variant not provided [RCV003693018] Chr11:118476833 [GRCh38]
Chr11:118347548 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.9924T>C (p.Ser3308=) single nucleotide variant not provided [RCV003696454] Chr11:118505816 [GRCh38]
Chr11:118376531 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.9542_9544del (p.Ser3181del) deletion not provided [RCV003696258] Chr11:118505432..118505434 [GRCh38]
Chr11:118376147..118376149 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.8943C>G (p.Ser2981Arg) single nucleotide variant not provided [RCV003738897] Chr11:118504835 [GRCh38]
Chr11:118375550 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.1349G>A (p.Arg450Lys) single nucleotide variant not provided [RCV003716730] Chr11:118472508 [GRCh38]
Chr11:118343223 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.11196C>T (p.Phe3732=) single nucleotide variant not provided [RCV003660437] Chr11:118519667 [GRCh38]
Chr11:118390382 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.5139A>T (p.Gly1713=) single nucleotide variant not provided [RCV003713618] Chr11:118493191 [GRCh38]
Chr11:118363906 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.11531G>A (p.Arg3844Gln) single nucleotide variant not provided [RCV003715040] Chr11:118521305 [GRCh38]
Chr11:118392020 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.5450C>T (p.Thr1817Ile) single nucleotide variant not provided [RCV003882534] Chr11:118495786 [GRCh38]
Chr11:118366501 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.129G>C (p.Gly43=) single nucleotide variant not provided [RCV003577633] Chr11:118436641 [GRCh38]
Chr11:118307356 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.1362G>C (p.Pro454=) single nucleotide variant not provided [RCV003694236] Chr11:118472521 [GRCh38]
Chr11:118343236 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.7215G>A (p.Leu2405=) single nucleotide variant not provided [RCV003690700] Chr11:118503107 [GRCh38]
Chr11:118373822 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.7753G>C (p.Asp2585His) single nucleotide variant not provided [RCV003577140] Chr11:118503645 [GRCh38]
Chr11:118374360 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.3377C>T (p.Ala1126Val) single nucleotide variant not provided [RCV003573050] Chr11:118478009 [GRCh38]
Chr11:118348724 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.9995G>T (p.Gly3332Val) single nucleotide variant not provided [RCV003545665] Chr11:118505887 [GRCh38]
Chr11:118376602 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.1935A>G (p.Lys645=) single nucleotide variant not provided [RCV003662679] Chr11:118473094 [GRCh38]
Chr11:118343809 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.4333-15A>C single nucleotide variant not provided [RCV003575219] Chr11:118488599 [GRCh38]
Chr11:118359314 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.9922A>C (p.Ser3308Arg) single nucleotide variant not provided [RCV003663224] Chr11:118505814 [GRCh38]
Chr11:118376529 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.1569T>C (p.Ser523=) single nucleotide variant not provided [RCV003578314] Chr11:118472728 [GRCh38]
Chr11:118343443 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.4697-10T>G single nucleotide variant not provided [RCV003691928] Chr11:118491186 [GRCh38]
Chr11:118361901 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.4244G>A (p.Trp1415Ter) single nucleotide variant not provided [RCV003577143] Chr11:118484887 [GRCh38]
Chr11:118355602 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.728_729del (p.Glu243fs) microsatellite not provided [RCV003716391] Chr11:118471885..118471886 [GRCh38]
Chr11:118342600..118342601 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.2072A>G (p.His691Arg) single nucleotide variant not provided [RCV003547747] Chr11:118473231 [GRCh38]
Chr11:118343946 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.9902C>T (p.Pro3301Leu) single nucleotide variant not provided [RCV003882630] Chr11:118505794 [GRCh38]
Chr11:118376509 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.4555A>G (p.Thr1519Ala) single nucleotide variant not provided [RCV003572482] Chr11:118489867 [GRCh38]
Chr11:118360582 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.5153T>A (p.Met1718Lys) single nucleotide variant not provided [RCV003690318] Chr11:118493205 [GRCh38]
Chr11:118363920 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.5067C>G (p.Pro1689=) single nucleotide variant not provided [RCV003829550] Chr11:118493119 [GRCh38]
Chr11:118363834 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.1965A>G (p.Pro655=) single nucleotide variant not provided [RCV003663415] Chr11:118473124 [GRCh38]
Chr11:118343839 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.10086A>T (p.Pro3362=) single nucleotide variant not provided [RCV003826204] Chr11:118505978 [GRCh38]
Chr11:118376693 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.11803C>T (p.Arg3935Cys) single nucleotide variant not provided [RCV003577370] Chr11:118522056 [GRCh38]
Chr11:118392771 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.9809G>C (p.Ser3270Thr) single nucleotide variant not provided [RCV003572013] Chr11:118505701 [GRCh38]
Chr11:118376416 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.3634+9G>C single nucleotide variant not provided [RCV003689317] Chr11:118480247 [GRCh38]
Chr11:118350962 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.11321+13_11321+15del microsatellite not provided [RCV003543979] Chr11:118519802..118519804 [GRCh38]
Chr11:118390517..118390519 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.6620G>A (p.Arg2207Gln) single nucleotide variant not provided [RCV003829652] Chr11:118502512 [GRCh38]
Chr11:118373227 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.2371del (p.Ala791fs) deletion not provided [RCV003572786] Chr11:118473530 [GRCh38]
Chr11:118344245 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.4939C>G (p.Leu1647Val) single nucleotide variant not provided [RCV003829116] Chr11:118491863 [GRCh38]
Chr11:118362578 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.5449A>G (p.Thr1817Ala) single nucleotide variant not provided [RCV003714969] Chr11:118495785 [GRCh38]
Chr11:118366500 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.6370_6372del (p.Ser2124del) deletion not provided [RCV003689918] Chr11:118501720..118501722 [GRCh38]
Chr11:118372435..118372437 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.10466C>T (p.Thr3489Met) single nucleotide variant not provided [RCV003713107] Chr11:118506358 [GRCh38]
Chr11:118377073 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.5665-15C>A single nucleotide variant not provided [RCV003714761] Chr11:118497921 [GRCh38]
Chr11:118368636 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.264C>T (p.Ser88=) single nucleotide variant not provided [RCV003714594] Chr11:118436776 [GRCh38]
Chr11:118307491 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.10447G>A (p.Val3483Ile) single nucleotide variant not provided [RCV003695848] Chr11:118506339 [GRCh38]
Chr11:118377054 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.9335G>T (p.Ser3112Ile) single nucleotide variant not provided [RCV003848682] Chr11:118505227 [GRCh38]
Chr11:118375942 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.3335-16C>A single nucleotide variant not provided [RCV003662964] Chr11:118477951 [GRCh38]
Chr11:118348666 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.4731T>C (p.Asp1577=) single nucleotide variant not provided [RCV003576047] Chr11:118491230 [GRCh38]
Chr11:118361945 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.9557G>A (p.Gly3186Asp) single nucleotide variant not provided [RCV003576053] Chr11:118505449 [GRCh38]
Chr11:118376164 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.4552C>A (p.Pro1518Thr) single nucleotide variant not provided [RCV003694803] Chr11:118489864 [GRCh38]
Chr11:118360579 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.4056T>C (p.Ser1352=) single nucleotide variant not provided [RCV003824515] Chr11:118482465 [GRCh38]
Chr11:118353180 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.10351G>A (p.Glu3451Lys) single nucleotide variant not provided [RCV003881928] Chr11:118506243 [GRCh38]
Chr11:118376958 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.5360G>C (p.Ser1787Thr) single nucleotide variant not provided [RCV003713488] Chr11:118494764 [GRCh38]
Chr11:118365479 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.5005-17A>G single nucleotide variant not provided [RCV003714926] Chr11:118493040 [GRCh38]
Chr11:118363755 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.11429+20C>A single nucleotide variant not provided [RCV003578919] Chr11:118520084 [GRCh38]
Chr11:118390799 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.6319+14C>T single nucleotide variant not provided [RCV003572257] Chr11:118501161 [GRCh38]
Chr11:118371876 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.9385G>A (p.Gly3129Arg) single nucleotide variant not provided [RCV003715640] Chr11:118505277 [GRCh38]
Chr11:118375992 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.6861A>C (p.Ser2287=) single nucleotide variant not provided [RCV003576808] Chr11:118502753 [GRCh38]
Chr11:118373468 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.7641T>A (p.Pro2547=) single nucleotide variant not provided [RCV003659854] Chr11:118503533 [GRCh38]
Chr11:118374248 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.1016C>T (p.Pro339Leu) single nucleotide variant not provided [RCV003546204] Chr11:118472175 [GRCh38]
Chr11:118342890 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.1721C>T (p.Pro574Leu) single nucleotide variant not provided [RCV003577242] Chr11:118472880 [GRCh38]
Chr11:118343595 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.951T>G (p.Gly317=) single nucleotide variant not provided [RCV003713139] Chr11:118472110 [GRCh38]
Chr11:118342825 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.382C>G (p.Arg128Gly) single nucleotide variant not provided [RCV003544783] Chr11:118436894 [GRCh38]
Chr11:118307609 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.1208T>C (p.Val403Ala) single nucleotide variant not provided [RCV003574323] Chr11:118472367 [GRCh38]
Chr11:118343082 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.11633A>T (p.Tyr3878Phe) single nucleotide variant not provided [RCV003713653] Chr11:118521407 [GRCh38]
Chr11:118392122 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.4783G>A (p.Val1595Ile) single nucleotide variant not provided [RCV003578105] Chr11:118491282 [GRCh38]
Chr11:118361997 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.10526A>G (p.Gln3509Arg) single nucleotide variant not provided [RCV003578836] Chr11:118506418 [GRCh38]
Chr11:118377133 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.8616A>G (p.Ser2872=) single nucleotide variant not provided [RCV003544465] Chr11:118504508 [GRCh38]
Chr11:118375223 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.6758T>C (p.Leu2253Pro) single nucleotide variant not provided [RCV003713696] Chr11:118502650 [GRCh38]
Chr11:118373365 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.1642A>T (p.Thr548Ser) single nucleotide variant not provided [RCV003546321] Chr11:118472801 [GRCh38]
Chr11:118343516 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.10673A>G (p.His3558Arg) single nucleotide variant not provided [RCV003831185] Chr11:118506565 [GRCh38]
Chr11:118377280 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.10755-7G>C single nucleotide variant not provided [RCV003826545] Chr11:118507522 [GRCh38]
Chr11:118378237 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.7383A>C (p.Gly2461=) single nucleotide variant not provided [RCV003661282] Chr11:118503275 [GRCh38]
Chr11:118373990 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.2324C>T (p.Ser775Phe) single nucleotide variant not provided [RCV003545651] Chr11:118473483 [GRCh38]
Chr11:118344198 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.7028C>A (p.Ser2343Tyr) single nucleotide variant not provided [RCV003545659] Chr11:118502920 [GRCh38]
Chr11:118373635 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.9907C>T (p.Pro3303Ser) single nucleotide variant not provided [RCV003663246] Chr11:118505799 [GRCh38]
Chr11:118376514 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.9958T>C (p.Ser3320Pro) single nucleotide variant not provided [RCV003739806] Chr11:118505850 [GRCh38]
Chr11:118376565 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.9864C>G (p.Ile3288Met) single nucleotide variant not provided [RCV003572949] Chr11:118505756 [GRCh38]
Chr11:118376471 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.6467C>T (p.Thr2156Ile) single nucleotide variant not provided [RCV003546405] Chr11:118501819 [GRCh38]
Chr11:118372534 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.3634+8dup duplication not provided [RCV003826743] Chr11:118480244..118480245 [GRCh38]
Chr11:118350959..118350960 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.503-19G>A single nucleotide variant not provided [RCV003690290] Chr11:118471643 [GRCh38]
Chr11:118342358 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.10785T>C (p.Asp3595=) single nucleotide variant not provided [RCV003545772] Chr11:118507559 [GRCh38]
Chr11:118378274 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.1749T>G (p.Pro583=) single nucleotide variant not provided [RCV003662262] Chr11:118472908 [GRCh38]
Chr11:118343623 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.3570-13G>A single nucleotide variant not provided [RCV003659942] Chr11:118480161 [GRCh38]
Chr11:118350876 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.3315G>A (p.Leu1105=) single nucleotide variant not provided [RCV003662681] Chr11:118476963 [GRCh38]
Chr11:118347678 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.11291A>G (p.His3764Arg) single nucleotide variant not provided [RCV003547289] Chr11:118519762 [GRCh38]
Chr11:118390477 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.3808_3809del (p.Lys1270fs) deletion not provided [RCV003547748] Chr11:118481886..118481887 [GRCh38]
Chr11:118352601..118352602 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.6935A>G (p.Lys2312Arg) single nucleotide variant not provided [RCV003660150] Chr11:118502827 [GRCh38]
Chr11:118373542 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.3920C>G (p.Pro1307Arg) single nucleotide variant not provided [RCV003572606] Chr11:118482000 [GRCh38]
Chr11:118352715 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.6638T>C (p.Met2213Thr) single nucleotide variant not provided [RCV003877522] Chr11:118502530 [GRCh38]
Chr11:118373245 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.2456A>C (p.Gln819Pro) single nucleotide variant not provided [RCV003572567] Chr11:118473615 [GRCh38]
Chr11:118344330 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.266C>T (p.Ala89Val) single nucleotide variant not provided [RCV003687247] Chr11:118436778 [GRCh38]
Chr11:118307493 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.806A>G (p.Lys269Arg) single nucleotide variant not provided [RCV003545649] Chr11:118471965 [GRCh38]
Chr11:118342680 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.11812T>C (p.Tyr3938His) single nucleotide variant not provided [RCV003545667] Chr11:118522065 [GRCh38]
Chr11:118392780 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.2628A>T (p.Arg876Ser) single nucleotide variant not provided [RCV003574459] Chr11:118473787 [GRCh38]
Chr11:118344502 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.7609C>G (p.Gln2537Glu) single nucleotide variant not provided [RCV003660192] Chr11:118503501 [GRCh38]
Chr11:118374216 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.8979T>C (p.Thr2993=) single nucleotide variant not provided [RCV003576386] Chr11:118504871 [GRCh38]
Chr11:118375586 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.10180G>A (p.Gly3394Arg) single nucleotide variant not provided [RCV003547210] Chr11:118506072 [GRCh38]
Chr11:118376787 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.9928G>A (p.Gly3310Arg) single nucleotide variant not provided [RCV003547820] Chr11:118505820 [GRCh38]
Chr11:118376535 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.6079+10A>G single nucleotide variant not provided [RCV003690828] Chr11:118499430 [GRCh38]
Chr11:118370145 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.7699A>G (p.Asn2567Asp) single nucleotide variant not provided [RCV003688596] Chr11:118503591 [GRCh38]
Chr11:118374306 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.1760C>T (p.Pro587Leu) single nucleotide variant not provided [RCV003573881] Chr11:118472919 [GRCh38]
Chr11:118343634 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.9702T>C (p.Asn3234=) single nucleotide variant not provided [RCV003572853] Chr11:118505594 [GRCh38]
Chr11:118376309 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.3157-7T>C single nucleotide variant not provided [RCV003547852] Chr11:118476798 [GRCh38]
Chr11:118347513 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.269C>G (p.Ser90Trp) single nucleotide variant not provided [RCV003575434] Chr11:118436781 [GRCh38]
Chr11:118307496 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.9064A>G (p.Asn3022Asp) single nucleotide variant not provided [RCV003545002] Chr11:118504956 [GRCh38]
Chr11:118375671 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.8149A>G (p.Ile2717Val) single nucleotide variant not provided [RCV003881333] Chr11:118504041 [GRCh38]
Chr11:118374756 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.10082T>C (p.Val3361Ala) single nucleotide variant not provided [RCV003576261] Chr11:118505974 [GRCh38]
Chr11:118376689 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.432+18C>T single nucleotide variant not provided [RCV003660538] Chr11:118436962 [GRCh38]
Chr11:118307677 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.9162T>G (p.Thr3054=) single nucleotide variant not provided [RCV003545140] Chr11:118505054 [GRCh38]
Chr11:118375769 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.5179-14G>A single nucleotide variant not provided [RCV003687630] Chr11:118494274 [GRCh38]
Chr11:118364989 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.8679C>T (p.Asp2893=) single nucleotide variant not provided [RCV003571967] Chr11:118504571 [GRCh38]
Chr11:118375286 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.6564T>C (p.Ser2188=) single nucleotide variant not provided [RCV003713949] Chr11:118502456 [GRCh38]
Chr11:118373171 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.303A>G (p.Ser101=) single nucleotide variant not provided [RCV003574160] Chr11:118436815 [GRCh38]
Chr11:118307530 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.6984C>T (p.Tyr2328=) single nucleotide variant not provided [RCV003545289] Chr11:118502876 [GRCh38]
Chr11:118373591 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.7302A>G (p.Lys2434=) single nucleotide variant not provided [RCV003714374] Chr11:118503194 [GRCh38]
Chr11:118373909 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.10844C>T (p.Ala3615Val) single nucleotide variant not provided [RCV003687816] Chr11:118509144 [GRCh38]
Chr11:118379859 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.7879C>T (p.Arg2627Cys) single nucleotide variant not provided [RCV003574184] Chr11:118503771 [GRCh38]
Chr11:118374486 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.7957A>G (p.Ser2653Gly) single nucleotide variant not provided [RCV003688594] Chr11:118503849 [GRCh38]
Chr11:118374564 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.11303G>T (p.Arg3768Met) single nucleotide variant not provided [RCV003716602] Chr11:118519774 [GRCh38]
Chr11:118390489 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.148G>A (p.Gly50Ser) single nucleotide variant not provided [RCV003826391] Chr11:118436660 [GRCh38]
Chr11:118307375 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.5949G>C (p.Leu1983Phe) single nucleotide variant not provided [RCV003690226] Chr11:118498516 [GRCh38]
Chr11:118369231 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.6045T>C (p.Asn2015=) single nucleotide variant not provided [RCV003827881] Chr11:118499386 [GRCh38]
Chr11:118370101 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.10304C>T (p.Thr3435Ile) single nucleotide variant not provided [RCV003573647] Chr11:118506196 [GRCh38]
Chr11:118376911 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.7324G>A (p.Glu2442Lys) single nucleotide variant not provided [RCV003693425] Chr11:118503216 [GRCh38]
Chr11:118373931 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.4643_4646dup (p.Trp1549Ter) duplication Wiedemann-Steiner syndrome [RCV003883302] Chr11:118490195..118490196 [GRCh38]
Chr11:118360910..118360911 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.9134A>G (p.Gln3045Arg) single nucleotide variant not provided [RCV003712949] Chr11:118505026 [GRCh38]
Chr11:118375741 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.11147-12T>C single nucleotide variant not provided [RCV003716387] Chr11:118519606 [GRCh38]
Chr11:118390321 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.7160A>C (p.Asp2387Ala) single nucleotide variant not provided [RCV003832720] Chr11:118503052 [GRCh38]
Chr11:118373767 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.6933C>G (p.Thr2311=) single nucleotide variant not provided [RCV003835357] Chr11:118502825 [GRCh38]
Chr11:118373540 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.4246G>A (p.Glu1416Lys) single nucleotide variant not provided [RCV003699747] Chr11:118484889 [GRCh38]
Chr11:118355604 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.11072-18T>C single nucleotide variant not provided [RCV003664323] Chr11:118511933 [GRCh38]
Chr11:118382648 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.9069G>A (p.Gln3023=) single nucleotide variant not provided [RCV003833060] Chr11:118504961 [GRCh38]
Chr11:118375676 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.1899C>T (p.Ser633=) single nucleotide variant not provided [RCV003697794] Chr11:118473058 [GRCh38]
Chr11:118343773 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.7499T>C (p.Val2500Ala) single nucleotide variant not provided [RCV003849463] Chr11:118503391 [GRCh38]
Chr11:118374106 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.287C>G (p.Ser96Trp) single nucleotide variant not provided [RCV003700074] Chr11:118436799 [GRCh38]
Chr11:118307514 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.3919C>T (p.Pro1307Ser) single nucleotide variant not provided [RCV003664694] Chr11:118481999 [GRCh38]
Chr11:118352714 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.11721C>T (p.Phe3907=) single nucleotide variant not provided [RCV003698082] Chr11:118521974 [GRCh38]
Chr11:118392689 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.2046C>G (p.Leu682=) single nucleotide variant not provided [RCV003664810] Chr11:118473205 [GRCh38]
Chr11:118343920 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.4756A>G (p.Met1586Val) single nucleotide variant not provided [RCV003548447] Chr11:118491255 [GRCh38]
Chr11:118361970 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.121C>G (p.Pro41Ala) single nucleotide variant not provided [RCV003699307] Chr11:118436633 [GRCh38]
Chr11:118307348 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.4464A>G (p.Gln1488=) single nucleotide variant not provided [RCV003663959] Chr11:118488745 [GRCh38]
Chr11:118359460 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.6505+7G>T single nucleotide variant not provided [RCV003835648] Chr11:118501864 [GRCh38]
Chr11:118372579 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.10496A>T (p.Glu3499Val) single nucleotide variant not provided [RCV003580150] Chr11:118506388 [GRCh38]
Chr11:118377103 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.11470C>T (p.Arg3824Trp) single nucleotide variant not provided [RCV003557672] Chr11:118520842 [GRCh38]
Chr11:118391557 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.2187A>C (p.Ser729=) single nucleotide variant not provided [RCV003812078] Chr11:118473346 [GRCh38]
Chr11:118344061 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.6860C>G (p.Ser2287Ter) single nucleotide variant not provided [RCV003549682] Chr11:118502752 [GRCh38]
Chr11:118373467 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.5000G>A (p.Arg1667Gln) single nucleotide variant not provided [RCV003852174] Chr11:118491924 [GRCh38]
Chr11:118362639 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.5363+5G>A single nucleotide variant not provided [RCV003665204] Chr11:118494772 [GRCh38]
Chr11:118365487 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.663G>A (p.Lys221=) single nucleotide variant not provided [RCV003697611] Chr11:118471822 [GRCh38]
Chr11:118342537 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.433-15T>C single nucleotide variant not provided [RCV003852157] Chr11:118468760 [GRCh38]
Chr11:118339475 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.6277G>A (p.Asp2093Asn) single nucleotide variant not provided [RCV003557862] Chr11:118501105 [GRCh38]
Chr11:118371820 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.2401C>A (p.His801Asn) single nucleotide variant not provided [RCV003838011] Chr11:118473560 [GRCh38]
Chr11:118344275 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.2751T>C (p.Val917=) single nucleotide variant not provided [RCV003673178] Chr11:118473910 [GRCh38]
Chr11:118344625 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.9984C>G (p.His3328Gln) single nucleotide variant not provided [RCV003849849] Chr11:118505876 [GRCh38]
Chr11:118376591 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.5835C>T (p.Thr1945=) single nucleotide variant not provided [RCV003852340] Chr11:118498402 [GRCh38]
Chr11:118369117 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.2039C>T (p.Ser680Leu) single nucleotide variant not provided [RCV003674197] Chr11:118473198 [GRCh38]
Chr11:118343913 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.3709G>A (p.Val1237Met) single nucleotide variant not provided [RCV003856808] Chr11:118481789 [GRCh38]
Chr11:118352504 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.7652T>G (p.Leu2551Trp) single nucleotide variant not provided [RCV003726910] Chr11:118503544 [GRCh38]
Chr11:118374259 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.3534G>A (p.Lys1178=) single nucleotide variant not provided [RCV003856868] Chr11:118478166 [GRCh38]
Chr11:118348881 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.1597G>C (p.Val533Leu) single nucleotide variant not provided [RCV003703659] Chr11:118472756 [GRCh38]
Chr11:118343471 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.10003T>C (p.Ser3335Pro) single nucleotide variant not provided [RCV003671944] Chr11:118505895 [GRCh38]
Chr11:118376610 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.717G>A (p.Lys239=) single nucleotide variant not provided [RCV003850900] Chr11:118471876 [GRCh38]
Chr11:118342591 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.10920A>G (p.Glu3640=) single nucleotide variant not provided [RCV003559953] Chr11:118509967 [GRCh38]
Chr11:118380682 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.10201G>A (p.Ala3401Thr) single nucleotide variant not provided [RCV003834516] Chr11:118506093 [GRCh38]
Chr11:118376808 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.11257C>A (p.Pro3753Thr) single nucleotide variant not provided [RCV003673667] Chr11:118519728 [GRCh38]
Chr11:118390443 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.9031C>T (p.Pro3011Ser) single nucleotide variant not provided [RCV003723553] Chr11:118504923 [GRCh38]
Chr11:118375638 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.4086+10G>C single nucleotide variant not provided [RCV003673979] Chr11:118482505 [GRCh38]
Chr11:118353220 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.7873C>T (p.Arg2625Cys) single nucleotide variant not provided [RCV003665597] Chr11:118503765 [GRCh38]
Chr11:118374480 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.2289T>C (p.Ser763=) single nucleotide variant not provided [RCV003726338] Chr11:118473448 [GRCh38]
Chr11:118344163 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.8535G>C (p.Gly2845=) single nucleotide variant not provided [RCV003726339] Chr11:118504427 [GRCh38]
Chr11:118375142 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.6453C>G (p.Pro2151=) single nucleotide variant KMT2A-related condition [RCV003901239]|not provided [RCV003670234] Chr11:118501805 [GRCh38]
Chr11:118372520 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.6646A>T (p.Met2216Leu) single nucleotide variant not provided [RCV003697970] Chr11:118502538 [GRCh38]
Chr11:118373253 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.8893A>G (p.Ile2965Val) single nucleotide variant not provided [RCV003835184] Chr11:118504785 [GRCh38]
Chr11:118375500 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.2619T>G (p.Ser873Arg) single nucleotide variant not provided [RCV003856143] Chr11:118473778 [GRCh38]
Chr11:118344493 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.1197G>A (p.Val399=) single nucleotide variant not provided [RCV003723849] Chr11:118472356 [GRCh38]
Chr11:118343071 [GRCh37]
Chr11:11q23.3		 benign
NM_001197104.2(KMT2A):c.2870A>C (p.Lys957Thr) single nucleotide variant not provided [RCV003668630] Chr11:118474029 [GRCh38]
Chr11:118344744 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.5962-1G>A single nucleotide variant not provided [RCV003674044] Chr11:118499302 [GRCh38]
Chr11:118370017 [GRCh37]
Chr11:11q23.3		 likely pathogenic
NM_001197104.2(KMT2A):c.6410G>A (p.Cys2137Tyr) single nucleotide variant not provided [RCV003856796] Chr11:118501762 [GRCh38]
Chr11:118372477 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.8936T>C (p.Leu2979Pro) single nucleotide variant not provided [RCV003580883] Chr11:118504828 [GRCh38]
Chr11:118375543 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.4013-11G>A single nucleotide variant not provided [RCV003665940] Chr11:118482411 [GRCh38]
Chr11:118353126 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.7666A>C (p.Thr2556Pro) single nucleotide variant not provided [RCV003703133] Chr11:118503558 [GRCh38]
Chr11:118374273 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.146G>A (p.Gly49Asp) single nucleotide variant not provided [RCV003856416] Chr11:118436658 [GRCh38]
Chr11:118307373 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.2787dup (p.Ala930fs) duplication not provided [RCV003580316] Chr11:118473940..118473941 [GRCh38]
Chr11:118344655..118344656 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.5400A>G (p.Ser1800=) single nucleotide variant not provided [RCV003664142] Chr11:118495736 [GRCh38]
Chr11:118366451 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.3700G>C (p.Val1234Leu) single nucleotide variant not provided [RCV003664696] Chr11:118481780 [GRCh38]
Chr11:118352495 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.4480-12A>G single nucleotide variant not provided [RCV003669465] Chr11:118489780 [GRCh38]
Chr11:118360495 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.7786G>A (p.Val2596Ile) single nucleotide variant not provided [RCV003669469] Chr11:118503678 [GRCh38]
Chr11:118374393 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.1003G>A (p.Glu335Lys) single nucleotide variant not provided [RCV003703392] Chr11:118472162 [GRCh38]
Chr11:118342877 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.3634+20C>G single nucleotide variant not provided [RCV003674113] Chr11:118480258 [GRCh38]
Chr11:118350973 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.10901-12T>C single nucleotide variant not provided [RCV003703528] Chr11:118509936 [GRCh38]
Chr11:118380651 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.8192C>A (p.Thr2731Asn) single nucleotide variant not provided [RCV003835975] Chr11:118504084 [GRCh38]
Chr11:118374799 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.9539_9541del (p.Ile3180del) deletion not provided [RCV003816494] Chr11:118505429..118505431 [GRCh38]
Chr11:118376144..118376146 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.6876G>A (p.Lys2292=) single nucleotide variant not provided [RCV003702621] Chr11:118502768 [GRCh38]
Chr11:118373483 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.10355A>G (p.His3452Arg) single nucleotide variant not provided [RCV003669544] Chr11:118506247 [GRCh38]
Chr11:118376962 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.9135G>C (p.Gln3045His) single nucleotide variant not provided [RCV003669945] Chr11:118505027 [GRCh38]
Chr11:118375742 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.6938T>C (p.Val2313Ala) single nucleotide variant not provided [RCV003669013] Chr11:118502830 [GRCh38]
Chr11:118373545 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.10426G>C (p.Asp3476His) single nucleotide variant Developmental disorder [RCV003764464] Chr11:118506318 [GRCh38]
Chr11:118377033 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.3558G>A (p.Lys1186=) single nucleotide variant not provided [RCV003669594] Chr11:118478190 [GRCh38]
Chr11:118348905 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.8748C>T (p.Ser2916=) single nucleotide variant not provided [RCV003840418] Chr11:118504640 [GRCh38]
Chr11:118375355 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.6051G>C (p.Leu2017Phe) single nucleotide variant not provided [RCV003559988] Chr11:118499392 [GRCh38]
Chr11:118370107 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.2436A>G (p.Lys812=) single nucleotide variant not provided [RCV003816741] Chr11:118473595 [GRCh38]
Chr11:118344310 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.11644-6G>A single nucleotide variant not provided [RCV003664418] Chr11:118521891 [GRCh38]
Chr11:118392606 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.107C>A (p.Pro36Gln) single nucleotide variant not provided [RCV003666670] Chr11:118436619 [GRCh38]
Chr11:118307334 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.5004+10G>A single nucleotide variant not provided [RCV003723767] Chr11:118491938 [GRCh38]
Chr11:118362653 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.6158+15A>C single nucleotide variant not provided [RCV003673828] Chr11:118499928 [GRCh38]
Chr11:118370643 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.3334+18A>G single nucleotide variant not provided [RCV003840097] Chr11:118477000 [GRCh38]
Chr11:118347715 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.10942C>G (p.Pro3648Ala) single nucleotide variant not provided [RCV003561565] Chr11:118509989 [GRCh38]
Chr11:118380704 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.2106T>C (p.Phe702=) single nucleotide variant not provided [RCV003670105] Chr11:118473265 [GRCh38]
Chr11:118343980 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.2268G>A (p.Arg756=) single nucleotide variant not provided [RCV003840216] Chr11:118473427 [GRCh38]
Chr11:118344142 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.6244G>A (p.Val2082Ile) single nucleotide variant not provided [RCV003697088] Chr11:118501072 [GRCh38]
Chr11:118371787 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.8184G>A (p.Glu2728=) single nucleotide variant not provided [RCV003838901] Chr11:118504076 [GRCh38]
Chr11:118374791 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.273TTCGTC[1] (p.Ser97_Ser98del) microsatellite not provided [RCV003839381] Chr11:118436780..118436785 [GRCh38]
Chr11:118307495..118307500 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.8123A>G (p.Glu2708Gly) single nucleotide variant not provided [RCV003697137] Chr11:118504015 [GRCh38]
Chr11:118374730 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.10562C>T (p.Ser3521Phe) single nucleotide variant not provided [RCV003813798] Chr11:118506454 [GRCh38]
Chr11:118377169 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.9372A>C (p.Val3124=) single nucleotide variant not provided [RCV003558085] Chr11:118505264 [GRCh38]
Chr11:118375979 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.9907C>A (p.Pro3303Thr) single nucleotide variant not provided [RCV003559179] Chr11:118505799 [GRCh38]
Chr11:118376514 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.3856G>T (p.Ala1286Ser) single nucleotide variant not provided [RCV003724047] Chr11:118481936 [GRCh38]
Chr11:118352651 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.8535G>A (p.Gly2845=) single nucleotide variant not provided [RCV003666426] Chr11:118504427 [GRCh38]
Chr11:118375142 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.7534G>A (p.Ala2512Thr) single nucleotide variant not provided [RCV003837895] Chr11:118503426 [GRCh38]
Chr11:118374141 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.3993G>T (p.Gln1331His) single nucleotide variant not provided [RCV003701000] Chr11:118482073 [GRCh38]
Chr11:118352788 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.2226T>C (p.Ser742=) single nucleotide variant not provided [RCV003726337] Chr11:118473385 [GRCh38]
Chr11:118344100 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.5962-19A>T single nucleotide variant not provided [RCV003666830] Chr11:118499284 [GRCh38]
Chr11:118369999 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.1062G>T (p.Arg354Ser) single nucleotide variant not provided [RCV003666877] Chr11:118472221 [GRCh38]
Chr11:118342936 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.8849G>A (p.Ser2950Asn) single nucleotide variant not provided [RCV003668599] Chr11:118504741 [GRCh38]
Chr11:118375456 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.8556T>A (p.Ile2852=) single nucleotide variant not provided [RCV003838984] Chr11:118504448 [GRCh38]
Chr11:118375163 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.10468G>A (p.Val3490Ile) single nucleotide variant not provided [RCV003560678] Chr11:118506360 [GRCh38]
Chr11:118377075 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.2316C>G (p.Pro772=) single nucleotide variant not provided [RCV003673569] Chr11:118473475 [GRCh38]
Chr11:118344190 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.10692G>C (p.Arg3564=) single nucleotide variant not provided [RCV003814452] Chr11:118506584 [GRCh38]
Chr11:118377299 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.2889G>C (p.Lys963Asn) single nucleotide variant not provided [RCV003668631] Chr11:118474048 [GRCh38]
Chr11:118344763 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.11289T>C (p.Pro3763=) single nucleotide variant not provided [RCV003673073] Chr11:118519760 [GRCh38]
Chr11:118390475 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.11001A>G (p.Lys3667=) single nucleotide variant not provided [RCV003855920] Chr11:118510048 [GRCh38]
Chr11:118380763 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.9094C>T (p.Pro3032Ser) single nucleotide variant not provided [RCV003673532] Chr11:118504986 [GRCh38]
Chr11:118375701 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.4586A>C (p.Lys1529Thr) single nucleotide variant not provided [RCV003673740] Chr11:118490139 [GRCh38]
Chr11:118360854 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.10584A>C (p.Ser3528=) single nucleotide variant not provided [RCV003817253] Chr11:118506476 [GRCh38]
Chr11:118377191 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.261_272del (p.Ala89_Ser92del) deletion not provided [RCV003854323] Chr11:118436766..118436777 [GRCh38]
Chr11:118307481..118307492 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.7450A>C (p.Asn2484His) single nucleotide variant not provided [RCV003673641] Chr11:118503342 [GRCh38]
Chr11:118374057 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.1571A>G (p.Asn524Ser) single nucleotide variant not provided [RCV003726084] Chr11:118472730 [GRCh38]
Chr11:118343445 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.752A>G (p.Asp251Gly) single nucleotide variant not provided [RCV003703013] Chr11:118471911 [GRCh38]
Chr11:118342626 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.4480-1G>T single nucleotide variant not provided [RCV003703022] Chr11:118489791 [GRCh38]
Chr11:118360506 [GRCh37]
Chr11:11q23.3		 likely pathogenic
NM_001197104.2(KMT2A):c.6279T>C (p.Asp2093=) single nucleotide variant not provided [RCV003672718] Chr11:118501107 [GRCh38]
Chr11:118371822 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.11270A>G (p.Asn3757Ser) single nucleotide variant not provided [RCV003725559] Chr11:118519741 [GRCh38]
Chr11:118390456 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.4678G>A (p.Ala1560Thr) single nucleotide variant not provided [RCV003831944] Chr11:118490231 [GRCh38]
Chr11:118360946 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.10397C>T (p.Thr3466Ile) single nucleotide variant not provided [RCV003580527] Chr11:118506289 [GRCh38]
Chr11:118377004 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.4102G>C (p.Val1368Leu) single nucleotide variant not provided [RCV003673780] Chr11:118484198 [GRCh38]
Chr11:118354913 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.237C>T (p.Ala79=) single nucleotide variant not provided [RCV003836449] Chr11:118436749 [GRCh38]
Chr11:118307464 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.6000G>A (p.Val2000=) single nucleotide variant not provided [RCV003671559] Chr11:118499341 [GRCh38]
Chr11:118370056 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.6619C>A (p.Arg2207=) single nucleotide variant not provided [RCV003700967] Chr11:118502511 [GRCh38]
Chr11:118373226 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.2156G>A (p.Ser719Asn) single nucleotide variant not provided [RCV003673023] Chr11:118473315 [GRCh38]
Chr11:118344030 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.1695_1703dup (p.Pro568_Pro569insLeuThrPro) duplication not provided [RCV003716768] Chr11:118472853..118472854 [GRCh38]
Chr11:118343568..118343569 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.7824A>G (p.Lys2608=) single nucleotide variant not provided [RCV003811175] Chr11:118503716 [GRCh38]
Chr11:118374431 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.2423A>G (p.Glu808Gly) single nucleotide variant not provided [RCV003665978] Chr11:118473582 [GRCh38]
Chr11:118344297 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.10098C>T (p.Thr3366=) single nucleotide variant not provided [RCV003700184] Chr11:118505990 [GRCh38]
Chr11:118376705 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.2556C>G (p.Asp852Glu) single nucleotide variant not provided [RCV003666993] Chr11:118473715 [GRCh38]
Chr11:118344430 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.85G>T (p.Gly29Cys) single nucleotide variant not provided [RCV003670985] Chr11:118436597 [GRCh38]
Chr11:118307312 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.4155T>C (p.Asn1385=) single nucleotide variant not provided [RCV003700183] Chr11:118484251 [GRCh38]
Chr11:118354966 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.1768A>G (p.Ile590Val) single nucleotide variant not provided [RCV003559721] Chr11:118472927 [GRCh38]
Chr11:118343642 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.7100C>T (p.Ala2367Val) single nucleotide variant not provided [RCV003724999] Chr11:118502992 [GRCh38]
Chr11:118373707 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.184G>A (p.Ala62Thr) single nucleotide variant not provided [RCV003697805] Chr11:118436696 [GRCh38]
Chr11:118307411 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.9204G>T (p.Gln3068His) single nucleotide variant not provided [RCV003664937] Chr11:118505096 [GRCh38]
Chr11:118375811 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.238G>C (p.Ala80Pro) single nucleotide variant not provided [RCV003700342] Chr11:118436750 [GRCh38]
Chr11:118307465 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.3689A>G (p.Glu1230Gly) single nucleotide variant not provided [RCV003716900] Chr11:118481769 [GRCh38]
Chr11:118352484 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.11620C>T (p.Arg3874Trp) single nucleotide variant not provided [RCV003701485] Chr11:118521394 [GRCh38]
Chr11:118392109 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.3755C>T (p.Pro1252Leu) single nucleotide variant not provided [RCV003663624] Chr11:118481835 [GRCh38]
Chr11:118352550 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.9728C>T (p.Pro3243Leu) single nucleotide variant not provided [RCV003550268] Chr11:118505620 [GRCh38]
Chr11:118376335 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.9744T>A (p.Pro3248=) single nucleotide variant not provided [RCV003723601] Chr11:118505636 [GRCh38]
Chr11:118376351 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.1641A>G (p.Ser547=) single nucleotide variant not provided [RCV003850673] Chr11:118472800 [GRCh38]
Chr11:118343515 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.8282C>T (p.Pro2761Leu) single nucleotide variant not provided [RCV003558855] Chr11:118504174 [GRCh38]
Chr11:118374889 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.1710A>G (p.Pro570=) single nucleotide variant not provided [RCV003672312] Chr11:118472869 [GRCh38]
Chr11:118343584 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.5364-15A>T single nucleotide variant not provided [RCV003671273] Chr11:118495685 [GRCh38]
Chr11:118366400 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.8717C>A (p.Thr2906Lys) single nucleotide variant not provided [RCV003701906] Chr11:118504609 [GRCh38]
Chr11:118375324 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.5802+2T>A single nucleotide variant not provided [RCV003560001] Chr11:118498075 [GRCh38]
Chr11:118368790 [GRCh37]
Chr11:11q23.3		 likely pathogenic
NM_001197104.2(KMT2A):c.241G>T (p.Ala81Ser) single nucleotide variant not provided [RCV003668328] Chr11:118436753 [GRCh38]
Chr11:118307468 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.7137G>A (p.Arg2379=) single nucleotide variant not provided [RCV003672439] Chr11:118503029 [GRCh38]
Chr11:118373744 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.8895_8897del (p.Thr2966del) deletion not provided [RCV003814115] Chr11:118504787..118504789 [GRCh38]
Chr11:118375502..118375504 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.9909C>T (p.Pro3303=) single nucleotide variant not provided [RCV003835840] Chr11:118505801 [GRCh38]
Chr11:118376516 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.94C>A (p.Arg32=) single nucleotide variant not provided [RCV003560256] Chr11:118436606 [GRCh38]
Chr11:118307321 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.230G>C (p.Gly77Ala) single nucleotide variant not provided [RCV003698642] Chr11:118436742 [GRCh38]
Chr11:118307457 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.11513+9A>G single nucleotide variant not provided [RCV003837301] Chr11:118520894 [GRCh38]
Chr11:118391609 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.11666G>A (p.Arg3889Gln) single nucleotide variant not provided [RCV003836005] Chr11:118521919 [GRCh38]
Chr11:118392634 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.6933C>A (p.Thr2311=) single nucleotide variant not provided [RCV003837756] Chr11:118502825 [GRCh38]
Chr11:118373540 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.9673C>T (p.Pro3225Ser) single nucleotide variant not provided [RCV003671817] Chr11:118505565 [GRCh38]
Chr11:118376280 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.11340G>C (p.Met3780Ile) single nucleotide variant not provided [RCV003837013] Chr11:118519975 [GRCh38]
Chr11:118390690 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.1797T>C (p.Ala599=) single nucleotide variant not provided [RCV003723528] Chr11:118472956 [GRCh38]
Chr11:118343671 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.11378A>G (p.Glu3793Gly) single nucleotide variant not provided [RCV003697351] Chr11:118520013 [GRCh38]
Chr11:118390728 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.10994A>T (p.Glu3665Val) single nucleotide variant not provided [RCV003549585] Chr11:118510041 [GRCh38]
Chr11:118380756 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.4152C>T (p.Ser1384=) single nucleotide variant not provided [RCV003833874] Chr11:118484248 [GRCh38]
Chr11:118354963 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.4332+14C>T single nucleotide variant not provided [RCV003701715] Chr11:118484989 [GRCh38]
Chr11:118355704 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.9957A>G (p.Thr3319=) single nucleotide variant not provided [RCV003668414] Chr11:118505849 [GRCh38]
Chr11:118376564 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.7921A>C (p.Arg2641=) single nucleotide variant not provided [RCV003668665] Chr11:118503813 [GRCh38]
Chr11:118374528 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.11013A>C (p.Gly3671=) single nucleotide variant not provided [RCV003666375] Chr11:118510060 [GRCh38]
Chr11:118380775 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.7469T>C (p.Ile2490Thr) single nucleotide variant not provided [RCV003671345] Chr11:118503361 [GRCh38]
Chr11:118374076 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.488C>G (p.Thr163Arg) single nucleotide variant not provided [RCV003850037] Chr11:118468830 [GRCh38]
Chr11:118339545 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.1707G>A (p.Pro569=) single nucleotide variant not provided [RCV003850566] Chr11:118472866 [GRCh38]
Chr11:118343581 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.8453C>A (p.Pro2818His) single nucleotide variant not provided [RCV003833183] Chr11:118504345 [GRCh38]
Chr11:118375060 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.3635-13G>A single nucleotide variant not provided [RCV003833188] Chr11:118481702 [GRCh38]
Chr11:118352417 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.82G>A (p.Gly28Arg) single nucleotide variant not provided [RCV003558108] Chr11:118436594 [GRCh38]
Chr11:118307309 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.3569+20T>A single nucleotide variant not provided [RCV003700736] Chr11:118478221 [GRCh38]
Chr11:118348936 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.10496A>G (p.Glu3499Gly) single nucleotide variant not provided [RCV003549792] Chr11:118506388 [GRCh38]
Chr11:118377103 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.8242G>A (p.Gly2748Ser) single nucleotide variant not provided [RCV003659134] Chr11:118504134 [GRCh38]
Chr11:118374849 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.6712G>A (p.Asp2238Asn) single nucleotide variant not provided [RCV003850658] Chr11:118502604 [GRCh38]
Chr11:118373319 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.1354A>G (p.Ser452Gly) single nucleotide variant not provided [RCV003559070] Chr11:118472513 [GRCh38]
Chr11:118343228 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.2197A>G (p.Asn733Asp) single nucleotide variant not provided [RCV003701722] Chr11:118473356 [GRCh38]
Chr11:118344071 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.2985A>T (p.Ser995=) single nucleotide variant not provided [RCV003725175] Chr11:118474144 [GRCh38]
Chr11:118344859 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.11768T>C (p.Ile3923Thr) single nucleotide variant not provided [RCV003560361] Chr11:118522021 [GRCh38]
Chr11:118392736 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.9380C>T (p.Pro3127Leu) single nucleotide variant not provided [RCV003668734] Chr11:118505272 [GRCh38]
Chr11:118375987 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.4868C>A (p.Thr1623Asn) single nucleotide variant not provided [RCV003841340] Chr11:118491792 [GRCh38]
Chr11:118362507 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.7040A>G (p.Asn2347Ser) single nucleotide variant not provided [RCV003708151] Chr11:118502932 [GRCh38]
Chr11:118373647 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.9711T>A (p.Leu3237=) single nucleotide variant not provided [RCV003568613] Chr11:118505603 [GRCh38]
Chr11:118376318 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.7555C>T (p.Arg2519Trp) single nucleotide variant not provided [RCV003819672] Chr11:118503447 [GRCh38]
Chr11:118374162 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.643T>C (p.Ser215Pro) single nucleotide variant not provided [RCV003823875] Chr11:118471802 [GRCh38]
Chr11:118342517 [GRCh37]
Chr11:11q23.3		 benign
NM_001197104.2(KMT2A):c.4481A>T (p.Gln1494Leu) single nucleotide variant not provided [RCV003565798] Chr11:118489793 [GRCh38]
Chr11:118360508 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.8013C>G (p.Ala2671=) single nucleotide variant not provided [RCV003731691] Chr11:118503905 [GRCh38]
Chr11:118374620 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.10930A>T (p.Asn3644Tyr) single nucleotide variant not provided [RCV003728478] Chr11:118509977 [GRCh38]
Chr11:118380692 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.393C>A (p.Ala131=) single nucleotide variant not provided [RCV003705309] Chr11:118436905 [GRCh38]
Chr11:118307620 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.8025C>T (p.Ser2675=) single nucleotide variant not provided [RCV003821189] Chr11:118503917 [GRCh38]
Chr11:118374632 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.6662C>G (p.Thr2221Ser) single nucleotide variant not provided [RCV003542138] Chr11:118502554 [GRCh38]
Chr11:118373269 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.2051_2052delinsGG (p.Ser684Trp) indel not provided [RCV003567807] Chr11:118473210..118473211 [GRCh38]
Chr11:118343925..118343926 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.10923G>A (p.Glu3641=) single nucleotide variant not provided [RCV003845767] Chr11:118509970 [GRCh38]
Chr11:118380685 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.7563C>T (p.Arg2521=) single nucleotide variant not provided [RCV003845766] Chr11:118503455 [GRCh38]
Chr11:118374170 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.961A>C (p.Asn321His) single nucleotide variant not provided [RCV003708253] Chr11:118472120 [GRCh38]
Chr11:118342835 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.8892C>T (p.Thr2964=) single nucleotide variant not provided [RCV003552248] Chr11:118504784 [GRCh38]
Chr11:118375499 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.4086+13T>G single nucleotide variant not provided [RCV003563937] Chr11:118482508 [GRCh38]
Chr11:118353223 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.3635-6C>G single nucleotide variant not provided [RCV003841687] Chr11:118481709 [GRCh38]
Chr11:118352424 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.275C>T (p.Ser92Leu) single nucleotide variant not provided [RCV003847695] Chr11:118436787 [GRCh38]
Chr11:118307502 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.6149T>C (p.Ile2050Thr) single nucleotide variant not provided [RCV003706665] Chr11:118499904 [GRCh38]
Chr11:118370619 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.5271C>G (p.Val1757=) single nucleotide variant not provided [RCV003552802] Chr11:118494380 [GRCh38]
Chr11:118365095 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.3160C>T (p.Gln1054Ter) single nucleotide variant not provided [RCV003562529] Chr11:118476808 [GRCh38]
Chr11:118347523 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.6863C>T (p.Ser2288Phe) single nucleotide variant not provided [RCV003567538] Chr11:118502755 [GRCh38]
Chr11:118373470 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.721A>T (p.Ile241Phe) single nucleotide variant not provided [RCV003675289] Chr11:118471880 [GRCh38]
Chr11:118342595 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.3416A>G (p.Lys1139Arg) single nucleotide variant not provided [RCV003568097] Chr11:118478048 [GRCh38]
Chr11:118348763 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.9171T>A (p.Pro3057=) single nucleotide variant not provided [RCV003848785] Chr11:118505063 [GRCh38]
Chr11:118375778 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.1319T>A (p.Ile440Asn) single nucleotide variant not provided [RCV003682945] Chr11:118472478 [GRCh38]
Chr11:118343193 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.3549T>C (p.Asn1183=) single nucleotide variant not provided [RCV003679454] Chr11:118478181 [GRCh38]
Chr11:118348896 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.10725A>G (p.Gln3575=) single nucleotide variant not provided [RCV003552736] Chr11:118506617 [GRCh38]
Chr11:118377332 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.1554C>T (p.Ser518=) single nucleotide variant not provided [RCV003841487] Chr11:118472713 [GRCh38]
Chr11:118343428 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.6266C>A (p.Thr2089Asn) single nucleotide variant not provided [RCV003860559] Chr11:118501094 [GRCh38]
Chr11:118371809 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.2691A>C (p.Ser897=) single nucleotide variant not provided [RCV003710623] Chr11:118473850 [GRCh38]
Chr11:118344565 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.9727C>T (p.Pro3243Ser) single nucleotide variant not provided [RCV003567710] Chr11:118505619 [GRCh38]
Chr11:118376334 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.5800C>T (p.Leu1934=) single nucleotide variant not provided [RCV003734880] Chr11:118498071 [GRCh38]
Chr11:118368786 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.788C>T (p.Thr263Met) single nucleotide variant not provided [RCV003865186] Chr11:118471947 [GRCh38]
Chr11:118342662 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.4049G>A (p.Arg1350His) single nucleotide variant not provided [RCV003705977] Chr11:118482458 [GRCh38]
Chr11:118353173 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.5632_5633dup (p.Leu1878fs) duplication not provided [RCV003562466] Chr11:118496334..118496335 [GRCh38]
Chr11:118367049..118367050 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.7058C>G (p.Ser2353Cys) single nucleotide variant not provided [RCV003564998] Chr11:118502950 [GRCh38]
Chr11:118373665 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.366C>T (p.Ile122=) single nucleotide variant not provided [RCV003709773] Chr11:118436878 [GRCh38]
Chr11:118307593 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.2527T>C (p.Ser843Pro) single nucleotide variant not provided [RCV003852921] Chr11:118473686 [GRCh38]
Chr11:118344401 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.4745A>C (p.Glu1582Ala) single nucleotide variant not provided [RCV003683462] Chr11:118491244 [GRCh38]
Chr11:118361959 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.328C>T (p.Pro110Ser) single nucleotide variant not provided [RCV003820203] Chr11:118436840 [GRCh38]
Chr11:118307555 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.8455T>C (p.Ser2819Pro) single nucleotide variant not provided [RCV003709057] Chr11:118504347 [GRCh38]
Chr11:118375062 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.7725A>G (p.Gln2575=) single nucleotide variant not provided [RCV003705310] Chr11:118503617 [GRCh38]
Chr11:118374332 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.5160A>G (p.Gln1720=) single nucleotide variant not provided [RCV003848010] Chr11:118493212 [GRCh38]
Chr11:118363927 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.2941C>T (p.Pro981Ser) single nucleotide variant not provided [RCV003709484] Chr11:118474100 [GRCh38]
Chr11:118344815 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.2337G>A (p.Ser779=) single nucleotide variant not provided [RCV003852984] Chr11:118473496 [GRCh38]
Chr11:118344211 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.9258G>A (p.Gln3086=) single nucleotide variant not provided [RCV003866461] Chr11:118505150 [GRCh38]
Chr11:118375865 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.8175T>C (p.Asp2725=) single nucleotide variant not provided [RCV003844547] Chr11:118504067 [GRCh38]
Chr11:118374782 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.6158+13A>G single nucleotide variant not provided [RCV003563781] Chr11:118499926 [GRCh38]
Chr11:118370641 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.8271G>A (p.Lys2757=) single nucleotide variant not provided [RCV003553505] Chr11:118504163 [GRCh38]
Chr11:118374878 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.4480-13T>C single nucleotide variant not provided [RCV003676681] Chr11:118489779 [GRCh38]
Chr11:118360494 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.4293G>A (p.Arg1431=) single nucleotide variant not provided [RCV003842342] Chr11:118484936 [GRCh38]
Chr11:118355651 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.10106A>C (p.Asn3369Thr) single nucleotide variant not provided [RCV003711768] Chr11:118505998 [GRCh38]
Chr11:118376713 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.10093G>A (p.Val3365Ile) single nucleotide variant not provided [RCV003556534] Chr11:118505985 [GRCh38]
Chr11:118376700 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.10754+17C>T single nucleotide variant not provided [RCV003819433] Chr11:118506663 [GRCh38]
Chr11:118377378 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.11147-7C>G single nucleotide variant not provided [RCV003861110] Chr11:118519611 [GRCh38]
Chr11:118390326 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.4824_4825delinsAT (p.Met1609Leu) indel not provided [RCV003568272] Chr11:118491748..118491749 [GRCh38]
Chr11:118362463..118362464 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.11014C>A (p.Leu3672Ile) single nucleotide variant not provided [RCV003555790] Chr11:118510061 [GRCh38]
Chr11:118380776 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.1549C>G (p.Gln517Glu) single nucleotide variant not provided [RCV003676339] Chr11:118472708 [GRCh38]
Chr11:118343423 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.173C>T (p.Pro58Leu) single nucleotide variant not provided [RCV003706978] Chr11:118436685 [GRCh38]
Chr11:118307400 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.728A>C (p.Glu243Ala) single nucleotide variant not provided [RCV003708856] Chr11:118471887 [GRCh38]
Chr11:118342602 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.9154A>G (p.Asn3052Asp) single nucleotide variant not provided [RCV003709961] Chr11:118505046 [GRCh38]
Chr11:118375761 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.10738C>G (p.Leu3580Val) single nucleotide variant not provided [RCV003842648] Chr11:118506630 [GRCh38]
Chr11:118377345 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.10730C>A (p.Thr3577Lys) single nucleotide variant not provided [RCV003734403] Chr11:118506622 [GRCh38]
Chr11:118377337 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.6886G>A (p.Ala2296Thr) single nucleotide variant not provided [RCV003554089] Chr11:118502778 [GRCh38]
Chr11:118373493 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.2557A>G (p.Lys853Glu) single nucleotide variant not provided [RCV003728178] Chr11:118473716 [GRCh38]
Chr11:118344431 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.10611T>A (p.Thr3537=) single nucleotide variant not provided [RCV003564728] Chr11:118506503 [GRCh38]
Chr11:118377218 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.1447A>G (p.Ser483Gly) single nucleotide variant not provided [RCV003822181] Chr11:118472606 [GRCh38]
Chr11:118343321 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.10653C>A (p.Asp3551Glu) single nucleotide variant not provided [RCV003682176] Chr11:118506545 [GRCh38]
Chr11:118377260 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.9528C>T (p.Phe3176=) single nucleotide variant not provided [RCV003865202] Chr11:118505420 [GRCh38]
Chr11:118376135 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.10264G>A (p.Ala3422Thr) single nucleotide variant not provided [RCV003685114] Chr11:118506156 [GRCh38]
Chr11:118376871 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.4380A>G (p.Leu1460=) single nucleotide variant not provided [RCV003685072] Chr11:118488661 [GRCh38]
Chr11:118359376 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.3635-20T>A single nucleotide variant not provided [RCV003709592] Chr11:118481695 [GRCh38]
Chr11:118352410 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.1520C>G (p.Pro507Arg) single nucleotide variant not provided [RCV003682286] Chr11:118472679 [GRCh38]
Chr11:118343394 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.761A>G (p.Lys254Arg) single nucleotide variant not provided [RCV003737183] Chr11:118471920 [GRCh38]
Chr11:118342635 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.10226T>C (p.Phe3409Ser) single nucleotide variant not provided [RCV003685859] Chr11:118506118 [GRCh38]
Chr11:118376833 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.10843G>A (p.Ala3615Thr) single nucleotide variant not provided [RCV003728127] Chr11:118509143 [GRCh38]
Chr11:118379858 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.7560A>T (p.Lys2520Asn) single nucleotide variant not provided [RCV003684048] Chr11:118503452 [GRCh38]
Chr11:118374167 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.4538A>G (p.Asn1513Ser) single nucleotide variant not provided [RCV003684018] Chr11:118489850 [GRCh38]
Chr11:118360565 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.6079+11G>C single nucleotide variant not provided [RCV003683994] Chr11:118499431 [GRCh38]
Chr11:118370146 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.4820-20G>A single nucleotide variant not provided [RCV003684077] Chr11:118491724 [GRCh38]
Chr11:118362439 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.2568G>T (p.Glu856Asp) single nucleotide variant not provided [RCV003722209] Chr11:118473727 [GRCh38]
Chr11:118344442 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.1710A>C (p.Pro570=) single nucleotide variant not provided [RCV003729623] Chr11:118472869 [GRCh38]
Chr11:118343584 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.8330A>G (p.His2777Arg) single nucleotide variant not provided [RCV003859662] Chr11:118504222 [GRCh38]
Chr11:118374937 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.7022C>G (p.Thr2341Arg) single nucleotide variant not provided [RCV003677136] Chr11:118502914 [GRCh38]
Chr11:118373629 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.3791G>A (p.Arg1264Gln) single nucleotide variant not provided [RCV003867402] Chr11:118481871 [GRCh38]
Chr11:118352586 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.4480-18_4480del deletion not provided [RCV003721266] Chr11:118489772..118489790 [GRCh38]
Chr11:118360487..118360505 [GRCh37]
Chr11:11q23.3		 likely pathogenic
NM_001197104.2(KMT2A):c.8622A>C (p.Ser2874=) single nucleotide variant not provided [RCV003686133] Chr11:118504514 [GRCh38]
Chr11:118375229 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.2113A>C (p.Ser705Arg) single nucleotide variant not provided [RCV003706443] Chr11:118473272 [GRCh38]
Chr11:118343987 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.11643+7C>T single nucleotide variant not provided [RCV003711895] Chr11:118521424 [GRCh38]
Chr11:118392139 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.10587A>G (p.Ala3529=) single nucleotide variant not provided [RCV003557631] Chr11:118506479 [GRCh38]
Chr11:118377194 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.4480-19C>T single nucleotide variant not provided [RCV003866889] Chr11:118489773 [GRCh38]
Chr11:118360488 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.7837G>A (p.Gly2613Ser) single nucleotide variant not provided [RCV003869045] Chr11:118503729 [GRCh38]
Chr11:118374444 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.2276G>A (p.Ser759Asn) single nucleotide variant not provided [RCV003551997] Chr11:118473435 [GRCh38]
Chr11:118344150 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.6906G>C (p.Lys2302Asn) single nucleotide variant not provided [RCV003733426] Chr11:118502798 [GRCh38]
Chr11:118373513 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.2338T>C (p.Leu780=) single nucleotide variant not provided [RCV003863879] Chr11:118473497 [GRCh38]
Chr11:118344212 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.5145G>A (p.Lys1715=) single nucleotide variant not provided [RCV003682860] Chr11:118493197 [GRCh38]
Chr11:118363912 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.10714A>G (p.Ile3572Val) single nucleotide variant not provided [RCV003869287] Chr11:118506606 [GRCh38]
Chr11:118377321 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.3406A>G (p.Thr1136Ala) single nucleotide variant not provided [RCV003674840] Chr11:118478038 [GRCh38]
Chr11:118348753 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.934A>T (p.Ile312Leu) single nucleotide variant not provided [RCV003719180] Chr11:118472093 [GRCh38]
Chr11:118342808 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.2272A>C (p.Arg758=) single nucleotide variant not provided [RCV003721186] Chr11:118473431 [GRCh38]
Chr11:118344146 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.5596C>T (p.Pro1866Ser) single nucleotide variant not provided [RCV003552376] Chr11:118496299 [GRCh38]
Chr11:118367014 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.5269G>T (p.Val1757Phe) single nucleotide variant not provided [RCV003684276] Chr11:118494378 [GRCh38]
Chr11:118365093 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.9225G>A (p.Lys3075=) single nucleotide variant not provided [RCV003721422] Chr11:118505117 [GRCh38]
Chr11:118375832 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.5508A>C (p.Gly1836=) single nucleotide variant not provided [RCV003562736] Chr11:118495844 [GRCh38]
Chr11:118366559 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.10754+3GA[2] microsatellite not provided [RCV003706983] Chr11:118506649..118506650 [GRCh38]
Chr11:118377364..118377365 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.4505G>A (p.Arg1502Gln) single nucleotide variant not provided [RCV003821582] Chr11:118489817 [GRCh38]
Chr11:118360532 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.9269C>T (p.Pro3090Leu) single nucleotide variant not provided [RCV003564103] Chr11:118505161 [GRCh38]
Chr11:118375876 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.11430-18G>A single nucleotide variant not provided [RCV003708828] Chr11:118520784 [GRCh38]
Chr11:118391499 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.9254A>G (p.Asn3085Ser) single nucleotide variant not provided [RCV003721535] Chr11:118505146 [GRCh38]
Chr11:118375861 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.9717C>G (p.Pro3239=) single nucleotide variant not provided [RCV003676479] Chr11:118505609 [GRCh38]
Chr11:118376324 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.8841G>A (p.Gln2947=) single nucleotide variant not provided [RCV003708976] Chr11:118504733 [GRCh38]
Chr11:118375448 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.212G>C (p.Gly71Ala) single nucleotide variant not provided [RCV003685264] Chr11:118436724 [GRCh38]
Chr11:118307439 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.10900+12G>A single nucleotide variant not provided [RCV003684615] Chr11:118509212 [GRCh38]
Chr11:118379927 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.10507G>C (p.Ala3503Pro) single nucleotide variant not provided [RCV003870068] Chr11:118506399 [GRCh38]
Chr11:118377114 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.3594A>G (p.Gln1198=) single nucleotide variant not provided [RCV003870142] Chr11:118480198 [GRCh38]
Chr11:118350913 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.793C>T (p.Gln265Ter) single nucleotide variant not provided [RCV003718814] Chr11:118471952 [GRCh38]
Chr11:118342667 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.3468G>A (p.Gly1156=) single nucleotide variant not provided [RCV003869142] Chr11:118478100 [GRCh38]
Chr11:118348815 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.5005-19A>C single nucleotide variant not provided [RCV003685647] Chr11:118493038 [GRCh38]
Chr11:118363753 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.4161T>C (p.Asn1387=) single nucleotide variant not provided [RCV003869201] Chr11:118484257 [GRCh38]
Chr11:118354972 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.285A>G (p.Ser95=) single nucleotide variant not provided [RCV003841420] Chr11:118436797 [GRCh38]
Chr11:118307512 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.3781C>G (p.Pro1261Ala) single nucleotide variant not provided [RCV003681814] Chr11:118481861 [GRCh38]
Chr11:118352576 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.10754+12A>G single nucleotide variant not provided [RCV003681886] Chr11:118506658 [GRCh38]
Chr11:118377373 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.8146A>G (p.Lys2716Glu) single nucleotide variant not provided [RCV003718973] Chr11:118504038 [GRCh38]
Chr11:118374753 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.3999A>T (p.Pro1333=) single nucleotide variant not provided [RCV003722143] Chr11:118482079 [GRCh38]
Chr11:118352794 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.11204A>G (p.Glu3735Gly) single nucleotide variant not provided [RCV003542182] Chr11:118519675 [GRCh38]
Chr11:118390390 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.6788C>T (p.Thr2263Ile) single nucleotide variant not provided [RCV003730774] Chr11:118502680 [GRCh38]
Chr11:118373395 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.6317C>G (p.Thr2106Arg) single nucleotide variant not provided [RCV003683755] Chr11:118501145 [GRCh38]
Chr11:118371860 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.7434C>T (p.Gly2478=) single nucleotide variant not provided [RCV003860849] Chr11:118503326 [GRCh38]
Chr11:118374041 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.3757G>T (p.Ala1253Ser) single nucleotide variant not provided [RCV003684920] Chr11:118481837 [GRCh38]
Chr11:118352552 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.3130A>G (p.Lys1044Glu) single nucleotide variant not provided [RCV003686067] Chr11:118474289 [GRCh38]
Chr11:118345004 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.165C>G (p.Pro55=) single nucleotide variant not provided [RCV003869719] Chr11:118436677 [GRCh38]
Chr11:118307392 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.1490A>G (p.Gln497Arg) single nucleotide variant not provided [RCV003819286] Chr11:118472649 [GRCh38]
Chr11:118343364 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.7516A>T (p.Met2506Leu) single nucleotide variant not provided [RCV003865331] Chr11:118503408 [GRCh38]
Chr11:118374123 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.1479T>C (p.Ser493=) single nucleotide variant not provided [RCV003684675] Chr11:118472638 [GRCh38]
Chr11:118343353 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.4473T>C (p.Ala1491=) single nucleotide variant not provided [RCV003677107] Chr11:118488754 [GRCh38]
Chr11:118359469 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.1388G>C (p.Ser463Thr) single nucleotide variant not provided [RCV003562413] Chr11:118472547 [GRCh38]
Chr11:118343262 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.10380G>C (p.Gln3460His) single nucleotide variant not provided [RCV003729693] Chr11:118506272 [GRCh38]
Chr11:118376987 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.503-8A>G single nucleotide variant not provided [RCV003859739] Chr11:118471654 [GRCh38]
Chr11:118342369 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.697A>G (p.Ile233Val) single nucleotide variant not provided [RCV003709931] Chr11:118471856 [GRCh38]
Chr11:118342571 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.2336C>T (p.Ser779Leu) single nucleotide variant not provided [RCV003853169] Chr11:118473495 [GRCh38]
Chr11:118344210 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.11059G>C (p.Glu3687Gln) single nucleotide variant not provided [RCV003723087] Chr11:118510106 [GRCh38]
Chr11:118380821 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.9893A>G (p.Tyr3298Cys) single nucleotide variant not provided [RCV003723104] Chr11:118505785 [GRCh38]
Chr11:118376500 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.9064A>C (p.Asn3022His) single nucleotide variant not provided [RCV003552060] Chr11:118504956 [GRCh38]
Chr11:118375671 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.6085A>G (p.Met2029Val) single nucleotide variant not provided [RCV003865764] Chr11:118499840 [GRCh38]
Chr11:118370555 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.186C>G (p.Ala62=) single nucleotide variant not provided [RCV003867563] Chr11:118436698 [GRCh38]
Chr11:118307413 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.7330C>T (p.His2444Tyr) single nucleotide variant not provided [RCV003869827] Chr11:118503222 [GRCh38]
Chr11:118373937 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.6159-10G>T single nucleotide variant not provided [RCV003869840] Chr11:118500977 [GRCh38]
Chr11:118371692 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.8234A>G (p.Lys2745Arg) single nucleotide variant not provided [RCV003723176] Chr11:118504126 [GRCh38]
Chr11:118374841 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.9615C>A (p.Ser3205Arg) single nucleotide variant not provided [RCV003676052] Chr11:118505507 [GRCh38]
Chr11:118376222 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.5601C>A (p.Pro1867=) single nucleotide variant not provided [RCV003845427] Chr11:118496304 [GRCh38]
Chr11:118367019 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.54CGG[5] (p.Gly23_Arg24insGly) microsatellite not provided [RCV003867581] Chr11:118436563..118436564 [GRCh38]
Chr11:118307278..118307279 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.1689A>C (p.Pro563=) single nucleotide variant not provided [RCV003568804] Chr11:118472848 [GRCh38]
Chr11:118343563 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.432+10C>A single nucleotide variant not provided [RCV003712250] Chr11:118436954 [GRCh38]
Chr11:118307669 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.4107T>C (p.Asn1369=) single nucleotide variant not provided [RCV003860121] Chr11:118484203 [GRCh38]
Chr11:118354918 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.2489G>T (p.Ser830Ile) single nucleotide variant not provided [RCV003566898] Chr11:118473648 [GRCh38]
Chr11:118344363 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.2257C>T (p.His753Tyr) single nucleotide variant not provided [RCV003853824] Chr11:118473416 [GRCh38]
Chr11:118344131 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.10388C>T (p.Ala3463Val) single nucleotide variant not provided [RCV003684377] Chr11:118506280 [GRCh38]
Chr11:118376995 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.11894A>G (p.Lys3965Arg) single nucleotide variant not provided [RCV003676260] Chr11:118522147 [GRCh38]
Chr11:118392862 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.1638A>G (p.Leu546=) single nucleotide variant not provided [RCV003853951] Chr11:118472797 [GRCh38]
Chr11:118343512 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.11146+20T>A single nucleotide variant not provided [RCV003685543] Chr11:118512045 [GRCh38]
Chr11:118382760 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.11370G>A (p.Gln3790=) single nucleotide variant not provided [RCV003541889] Chr11:118520005 [GRCh38]
Chr11:118390720 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.313C>T (p.Leu105=) single nucleotide variant not provided [RCV003821535] Chr11:118436825 [GRCh38]
Chr11:118307540 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.11388C>A (p.Pro3796=) single nucleotide variant not provided [RCV003676402] Chr11:118520023 [GRCh38]
Chr11:118390738 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.4884T>A (p.Thr1628=) single nucleotide variant not provided [RCV003841341] Chr11:118491808 [GRCh38]
Chr11:118362523 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.4548C>T (p.Thr1516=) single nucleotide variant not provided [RCV003704539] Chr11:118489860 [GRCh38]
Chr11:118360575 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.2776T>C (p.Ser926Pro) single nucleotide variant not provided [RCV003848311] Chr11:118473935 [GRCh38]
Chr11:118344650 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.1507C>T (p.Arg503Trp) single nucleotide variant not provided [RCV003841511] Chr11:118472666 [GRCh38]
Chr11:118343381 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.2937T>A (p.Thr979=) single nucleotide variant not provided [RCV003860357] Chr11:118474096 [GRCh38]
Chr11:118344811 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.593C>T (p.Pro198Leu) single nucleotide variant not provided [RCV003567483] Chr11:118471752 [GRCh38]
Chr11:118342467 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.4835T>G (p.Ile1612Ser) single nucleotide variant not provided [RCV003709843] Chr11:118491759 [GRCh38]
Chr11:118362474 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.779C>T (p.Pro260Leu) single nucleotide variant not provided [RCV003679317] Chr11:118471938 [GRCh38]
Chr11:118342653 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.3156+6C>G single nucleotide variant not provided [RCV003711200] Chr11:118474321 [GRCh38]
Chr11:118345036 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.774G>A (p.Arg258=) single nucleotide variant not provided [RCV003729048] Chr11:118471933 [GRCh38]
Chr11:118342648 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.173C>G (p.Pro58Arg) single nucleotide variant not provided [RCV003729074] Chr11:118436685 [GRCh38]
Chr11:118307400 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.10274C>G (p.Ala3425Gly) single nucleotide variant not provided [RCV003865654] Chr11:118506166 [GRCh38]
Chr11:118376881 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.2855A>G (p.Asp952Gly) single nucleotide variant not provided [RCV003566939] Chr11:118474014 [GRCh38]
Chr11:118344729 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.330G>C (p.Pro110=) single nucleotide variant not provided [RCV003566956] Chr11:118436842 [GRCh38]
Chr11:118307557 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.553C>T (p.Arg185Ter) single nucleotide variant not provided [RCV003734636] Chr11:118471712 [GRCh38]
Chr11:118342427 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.10498C>T (p.Gln3500Ter) single nucleotide variant not provided [RCV003842952] Chr11:118506390 [GRCh38]
Chr11:118377105 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.5530C>T (p.Leu1844=) single nucleotide variant not provided [RCV003843001] Chr11:118495866 [GRCh38]
Chr11:118366581 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.10755-10T>C single nucleotide variant not provided [RCV003858051] Chr11:118507519 [GRCh38]
Chr11:118378234 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.4666T>C (p.Cys1556Arg) single nucleotide variant not provided [RCV003542550] Chr11:118490219 [GRCh38]
Chr11:118360934 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.6392C>T (p.Ser2131Leu) single nucleotide variant not provided [RCV003682358] Chr11:118501744 [GRCh38]
Chr11:118372459 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.2854G>A (p.Asp952Asn) single nucleotide variant not provided [RCV003865482] Chr11:118474013 [GRCh38]
Chr11:118344728 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.11887G>A (p.Gly3963Ser) single nucleotide variant not provided [RCV003710439] Chr11:118522140 [GRCh38]
Chr11:118392855 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.8014G>A (p.Asp2672Asn) single nucleotide variant not provided [RCV003734793] Chr11:118503906 [GRCh38]
Chr11:118374621 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.695A>C (p.Lys232Thr) single nucleotide variant not provided [RCV003848745] Chr11:118471854 [GRCh38]
Chr11:118342569 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.4362C>T (p.Pro1454=) single nucleotide variant not provided [RCV003705980] Chr11:118488643 [GRCh38]
Chr11:118359358 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.3796C>T (p.Pro1266Ser) single nucleotide variant KMT2A-related condition [RCV003893534]|not provided [RCV003864137] Chr11:118481876 [GRCh38]
Chr11:118352591 [GRCh37]
Chr11:11q23.3		 likely benign|uncertain significance
NM_001197104.2(KMT2A):c.3634+13A>C single nucleotide variant not provided [RCV003704861] Chr11:118480251 [GRCh38]
Chr11:118350966 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.9217C>A (p.His3073Asn) single nucleotide variant not provided [RCV003732263] Chr11:118505109 [GRCh38]
Chr11:118375824 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.5197A>G (p.Ile1733Val) single nucleotide variant not provided [RCV003682731] Chr11:118494306 [GRCh38]
Chr11:118365021 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.5067C>T (p.Pro1689=) single nucleotide variant not provided [RCV003843215] Chr11:118493119 [GRCh38]
Chr11:118363834 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.10900+13G>A single nucleotide variant not provided [RCV003860942] Chr11:118509213 [GRCh38]
Chr11:118379928 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.7106C>A (p.Ser2369Tyr) single nucleotide variant not provided [RCV003862557] Chr11:118502998 [GRCh38]
Chr11:118373713 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.9507del (p.Ala3170fs) deletion not provided [RCV003709202] Chr11:118505399 [GRCh38]
Chr11:118376114 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.188_189insTGC (p.Ala67_Gly68insAla) insertion not provided [RCV003674579] Chr11:118436698..118436699 [GRCh38]
Chr11:118307413..118307414 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.2200A>G (p.Arg734Gly) single nucleotide variant not provided [RCV003563363] Chr11:118473359 [GRCh38]
Chr11:118344074 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.10096A>G (p.Thr3366Ala) single nucleotide variant not provided [RCV003712153] Chr11:118505988 [GRCh38]
Chr11:118376703 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.4479+19G>A single nucleotide variant not provided [RCV003682882] Chr11:118488779 [GRCh38]
Chr11:118359494 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.2797C>A (p.Arg933=) single nucleotide variant not provided [RCV003823963] Chr11:118473956 [GRCh38]
Chr11:118344671 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.3912C>T (p.Val1304=) single nucleotide variant not provided [RCV003563698] Chr11:118481992 [GRCh38]
Chr11:118352707 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.4332+12del deletion not provided [RCV003704970] Chr11:118484987 [GRCh38]
Chr11:118355702 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.6069C>T (p.His2023=) single nucleotide variant not provided [RCV003550337] Chr11:118499410 [GRCh38]
Chr11:118370125 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.7402A>G (p.Met2468Val) single nucleotide variant not provided [RCV003565728] Chr11:118503294 [GRCh38]
Chr11:118374009 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.9840A>C (p.Ser3280=) single nucleotide variant not provided [RCV003674724] Chr11:118505732 [GRCh38]
Chr11:118376447 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.11681A>T (p.Glu3894Val) single nucleotide variant not provided [RCV003550253] Chr11:118521934 [GRCh38]
Chr11:118392649 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.10794C>T (p.Ser3598=) single nucleotide variant not provided [RCV003677062] Chr11:118507568 [GRCh38]
Chr11:118378283 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.4782G>C (p.Trp1594Cys) single nucleotide variant not provided [RCV003551556] Chr11:118491281 [GRCh38]
Chr11:118361996 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.8719A>G (p.Thr2907Ala) single nucleotide variant not provided [RCV003680187] Chr11:118504611 [GRCh38]
Chr11:118375326 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.1276C>T (p.Arg426Trp) single nucleotide variant not provided [RCV003567957] Chr11:118472435 [GRCh38]
Chr11:118343150 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.6727G>T (p.Ala2243Ser) single nucleotide variant not provided [RCV003677198] Chr11:118502619 [GRCh38]
Chr11:118373334 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.10835G>A (p.Gly3612Glu) single nucleotide variant not provided [RCV003821074] Chr11:118507609 [GRCh38]
Chr11:118378324 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.154G>A (p.Gly52Arg) single nucleotide variant not provided [RCV003550477] Chr11:118436666 [GRCh38]
Chr11:118307381 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.5364-17G>C single nucleotide variant not provided [RCV003566633] Chr11:118495683 [GRCh38]
Chr11:118366398 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.11115A>G (p.Ser3705=) single nucleotide variant not provided [RCV003732854] Chr11:118511994 [GRCh38]
Chr11:118382709 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.1955G>A (p.Arg652Gln) single nucleotide variant not provided [RCV003678372] Chr11:118473114 [GRCh38]
Chr11:118343829 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.5052T>G (p.Pro1684=) single nucleotide variant not provided [RCV003674895] Chr11:118493104 [GRCh38]
Chr11:118363819 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.9737T>C (p.Ile3246Thr) single nucleotide variant not provided [RCV003842214] Chr11:118505629 [GRCh38]
Chr11:118376344 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.8102C>T (p.Ala2701Val) single nucleotide variant not provided [RCV003705209] Chr11:118503994 [GRCh38]
Chr11:118374709 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.9618G>T (p.Gln3206His) single nucleotide variant not provided [RCV003706580] Chr11:118505510 [GRCh38]
Chr11:118376225 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.7093A>G (p.Lys2365Glu) single nucleotide variant not provided [RCV003731041] Chr11:118502985 [GRCh38]
Chr11:118373700 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.5880G>A (p.Met1960Ile) single nucleotide variant not provided [RCV003566300] Chr11:118498447 [GRCh38]
Chr11:118369162 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.6093C>T (p.Ile2031=) single nucleotide variant not provided [RCV003846879] Chr11:118499848 [GRCh38]
Chr11:118370563 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.3140A>T (p.Asp1047Val) single nucleotide variant not provided [RCV003566975] Chr11:118474299 [GRCh38]
Chr11:118345014 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.7874G>A (p.Arg2625His) single nucleotide variant not provided [RCV003678655] Chr11:118503766 [GRCh38]
Chr11:118374481 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.2041C>T (p.Pro681Ser) single nucleotide variant not provided [RCV003819802] Chr11:118473200 [GRCh38]
Chr11:118343915 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.3701T>C (p.Val1234Ala) single nucleotide variant not provided [RCV003676143] Chr11:118481781 [GRCh38]
Chr11:118352496 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.7842T>C (p.Ser2614=) single nucleotide variant not provided [RCV003677608] Chr11:118503734 [GRCh38]
Chr11:118374449 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.4329dup (p.Glu1444fs) duplication not provided [RCV003550806] Chr11:118484971..118484972 [GRCh38]
Chr11:118355686..118355687 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.2852G>A (p.Gly951Glu) single nucleotide variant not provided [RCV003707849] Chr11:118474011 [GRCh38]
Chr11:118344726 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.2428G>A (p.Ala810Thr) single nucleotide variant not provided [RCV003705763] Chr11:118473587 [GRCh38]
Chr11:118344302 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.1912G>A (p.Ala638Thr) single nucleotide variant not provided [RCV003677546] Chr11:118473071 [GRCh38]
Chr11:118343786 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.3335-14C>T single nucleotide variant not provided [RCV003860137] Chr11:118477953 [GRCh38]
Chr11:118348668 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.192G>A (p.Ala64=) single nucleotide variant not provided [RCV003845798] Chr11:118436704 [GRCh38]
Chr11:118307419 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.8274T>C (p.Ile2758=) single nucleotide variant not provided [RCV003862050] Chr11:118504166 [GRCh38]
Chr11:118374881 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.7721C>T (p.Ala2574Val) single nucleotide variant not provided [RCV003708019] Chr11:118503613 [GRCh38]
Chr11:118374328 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.2584C>T (p.Arg862Ter) single nucleotide variant not provided [RCV003568144] Chr11:118473743 [GRCh38]
Chr11:118344458 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.1621A>G (p.Arg541Gly) single nucleotide variant not provided [RCV003541808] Chr11:118472780 [GRCh38]
Chr11:118343495 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.6313T>G (p.Phe2105Val) single nucleotide variant not provided [RCV003705875] Chr11:118501141 [GRCh38]
Chr11:118371856 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.8328C>A (p.Gly2776=) single nucleotide variant not provided [RCV003733092] Chr11:118504220 [GRCh38]
Chr11:118374935 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.6018A>T (p.Gly2006=) single nucleotide variant KMT2A-related condition [RCV003949054]|not provided [RCV003842754] Chr11:118499359 [GRCh38]
Chr11:118370074 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.3690G>A (p.Glu1230=) single nucleotide variant not provided [RCV003677602] Chr11:118481770 [GRCh38]
Chr11:118352485 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.2813C>G (p.Ser938Ter) single nucleotide variant not provided [RCV003566704] Chr11:118473972 [GRCh38]
Chr11:118344687 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.3770G>A (p.Ser1257Asn) single nucleotide variant not provided [RCV003733169] Chr11:118481850 [GRCh38]
Chr11:118352565 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.5835C>G (p.Thr1945=) single nucleotide variant not provided [RCV003554171] Chr11:118498402 [GRCh38]
Chr11:118369117 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.10525C>T (p.Gln3509Ter) single nucleotide variant not provided [RCV003542036] Chr11:118506417 [GRCh38]
Chr11:118377132 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.1592A>T (p.Tyr531Phe) single nucleotide variant not provided [RCV003542055] Chr11:118472751 [GRCh38]
Chr11:118343466 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.10463dup (p.Thr3489fs) duplication not provided [RCV003542109] Chr11:118506354..118506355 [GRCh38]
Chr11:118377069..118377070 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.4352G>T (p.Cys1451Phe) single nucleotide variant not provided [RCV003887714] Chr11:118488633 [GRCh38]
Chr11:118359348 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.6446G>C (p.Arg2149Pro) single nucleotide variant not specified [RCV003988367] Chr11:118501798 [GRCh38]
Chr11:118372513 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.10502A>C (p.Asn3501Thr) single nucleotide variant not provided [RCV003886941] Chr11:118506394 [GRCh38]
Chr11:118377109 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.11870del (p.Lys3957fs) deletion Wiedemann-Steiner syndrome [RCV003985173] Chr11:118522122 [GRCh38]
Chr11:118392837 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.6616C>T (p.Gln2206Ter) single nucleotide variant Wiedemann-Steiner syndrome [RCV003985180] Chr11:118502508 [GRCh38]
Chr11:118373223 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001197104.2(KMT2A):c.1635A>C (p.Lys545Asn) single nucleotide variant KMT2A-related condition [RCV003977288] Chr11:118472794 [GRCh38]
Chr11:118343509 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.1791G>C (p.Leu597Phe) single nucleotide variant KMT2A-related condition [RCV003899434] Chr11:118472950 [GRCh38]
Chr11:118343665 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.1877G>A (p.Arg626Lys) single nucleotide variant not specified [RCV003988508] Chr11:118473036 [GRCh38]
Chr11:118343751 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.2904T>C (p.Asn968=) single nucleotide variant KMT2A-related condition [RCV003902131] Chr11:118474063 [GRCh38]
Chr11:118344778 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.10564C>T (p.Pro3522Ser) single nucleotide variant KMT2A-related condition [RCV003902152] Chr11:118506456 [GRCh38]
Chr11:118377171 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.8565T>C (p.Phe2855=) single nucleotide variant KMT2A-related condition [RCV003923978] Chr11:118504457 [GRCh38]
Chr11:118375172 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.11147-11_11147-5dup duplication KMT2A-related condition [RCV003981509] Chr11:118519605..118519606 [GRCh38]
Chr11:118390320..118390321 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.7767C>T (p.Asn2589=) single nucleotide variant KMT2A-related condition [RCV003954315] Chr11:118503659 [GRCh38]
Chr11:118374374 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.9744T>G (p.Pro3248=) single nucleotide variant KMT2A-related condition [RCV003954542] Chr11:118505636 [GRCh38]
Chr11:118376351 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.6320-3C>T single nucleotide variant KMT2A-related condition [RCV003982606] Chr11:118501669 [GRCh38]
Chr11:118372384 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.4857T>G (p.Ser1619Arg) single nucleotide variant KMT2A-related condition [RCV003982725] Chr11:118491781 [GRCh38]
Chr11:118362496 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.10779G>A (p.Gln3593=) single nucleotide variant KMT2A-related condition [RCV003899278] Chr11:118507553 [GRCh38]
Chr11:118378268 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.5668G>T (p.Ala1890Ser) single nucleotide variant KMT2A-related condition [RCV003893673] Chr11:118497939 [GRCh38]
Chr11:118368654 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001197104.2(KMT2A):c.9554C>G (p.Ser3185Ter) single nucleotide variant KMT2A-related condition [RCV003894120] Chr11:118505446 [GRCh38]
Chr11:118376161 [GRCh37]
Chr11:11q23.3		 likely pathogenic
NM_001197104.2(KMT2A):c.153C>G (p.Pro51=) single nucleotide variant not provided [RCV003884125] Chr11:118436665 [GRCh38]
Chr11:118307380 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001197104.2(KMT2A):c.5874_5878del (p.Phe1959fs) deletion Wiedemann-Steiner syndrome [RCV003885335] Chr11:118498438..118498442 [GRCh38]
Chr11:118369153..118369157 [GRCh37]
Chr11:11q23.3		 likely pathogenic
miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR128-1hsa-miR-128-3pOncomiRDBexternal_infoNANA19749093
MIR193Ahsa-miR-193a-3pMirtarbaseexternal_infoCLASHFunctional MTI (Weak)23622248

Predicted Target Of
Summary Value
Count of predictions:7665
Count of miRNA genes:1435
Interacting mature miRNAs:1954
Transcripts:ENST00000354520, ENST00000389506, ENST00000392873, ENST00000420751, ENST00000525408, ENST00000527839, ENST00000527869, ENST00000528278, ENST00000529852, ENST00000531904, ENST00000532204, ENST00000533790, ENST00000534085, ENST00000534358, ENST00000534678
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
RH44274  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711118,397,176 - 118,397,296UniSTSGRCh37
Build 3611117,902,386 - 117,902,506RGDNCBI36
Celera11115,557,970 - 115,558,090RGD
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map11q23UniSTS
HuRef11114,333,866 - 114,333,986UniSTS
GeneMap99-GB4 RH Map11380.87UniSTS
STS-T67449  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711118,394,509 - 118,394,630UniSTSGRCh37
Build 3611117,899,719 - 117,899,840RGDNCBI36
Celera11115,555,303 - 115,555,424RGD
Cytogenetic Map11q23UniSTS
HuRef11114,331,199 - 114,331,320UniSTS
GeneMap99-GB4 RH Map11380.67UniSTS
PMC56962P1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711118,355,121 - 118,355,420UniSTSGRCh37
Build 3611117,860,331 - 117,860,630RGDNCBI36
Celera11115,515,911 - 115,516,210RGD
Cytogenetic Map11q23UniSTS
HuRef11114,291,875 - 114,292,174UniSTS
MLL1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711118,393,009 - 118,393,211UniSTSGRCh37
Build 3611117,898,219 - 117,898,421RGDNCBI36
Celera11115,553,803 - 115,554,005RGD
Cytogenetic Map11q23UniSTS
HuRef11114,329,699 - 114,329,901UniSTS
GeneMap99-GB4 RH Map11380.67UniSTS
RH16534  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711118,395,186 - 118,395,335UniSTSGRCh37
Build 3611117,900,396 - 117,900,545RGDNCBI36
Celera11115,555,980 - 115,556,129RGD
Cytogenetic Map11q23UniSTS
HuRef11114,331,876 - 114,332,025UniSTS
GeneMap99-GB4 RH Map11380.57UniSTS
STS-AA009746  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711118,343,830 - 118,344,065UniSTSGRCh37
Build 3611117,849,040 - 117,849,275RGDNCBI36
Celera11115,504,622 - 115,504,857RGD
Cytogenetic Map11q23UniSTS
HuRef11114,280,586 - 114,280,821UniSTS
GeneMap99-GB4 RH Map11380.57UniSTS
STS-H92945  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711118,352,671 - 118,352,807UniSTSGRCh37
Build 3611117,857,881 - 117,858,017RGDNCBI36
Celera11115,513,465 - 115,513,601RGD
Cytogenetic Map11q23UniSTS
HuRef11114,289,429 - 114,289,565UniSTS
GeneMap99-GB4 RH Map11380.67UniSTS
RH65355  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711118,348,708 - 118,348,891UniSTSGRCh37
Build 3611117,853,918 - 117,854,101RGDNCBI36
Celera11115,509,502 - 115,509,685RGD
Cytogenetic Map11q23UniSTS
HuRef11114,285,466 - 114,285,649UniSTS
GeneMap99-GB4 RH Map11376.91UniSTS
RH48277  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711118,395,778 - 118,395,966UniSTSGRCh37
Build 3611117,900,988 - 117,901,176RGDNCBI36
Celera11115,556,572 - 115,556,760RGD
Cytogenetic Map11q23UniSTS
HuRef11114,332,468 - 114,332,656UniSTS
GeneMap99-GB4 RH Map11380.67UniSTS
MARC_12741-12742:1029349377:1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711118,375,858 - 118,376,273UniSTSGRCh37
Build 3611117,881,068 - 117,881,483RGDNCBI36
Celera11115,536,649 - 115,537,064RGD
HuRef11114,312,614 - 114,313,029UniSTS
UniSTS:484385  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711118,308,122 - 118,309,052UniSTSGRCh37
Celera11115,468,914 - 115,469,844UniSTS
HuRef11114,244,878 - 114,245,808UniSTS


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 1627 1355 1026 150 927 51 3148 806 1885 165 1081 1432 113 1 769 1866 3 2
Low 812 1607 700 474 996 414 1209 1390 1849 254 379 181 62 435 922 3
Below cutoff 29 28 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_027813 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001197104 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001412597 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_005933 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006718839 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011542829 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011542830 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011542833 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047426963 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047426964 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054368830 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054368831 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054368832 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054368833 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054368834 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054368835 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB209508 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF024540 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF029700 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF031403 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF035965 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF036405 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF061152 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF061153 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF232000 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF232001 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF232002 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF272370 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF272371 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF272372 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF272377 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF272378 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF272379 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF272380 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF272381 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF272382 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF487906 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI500057 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ235332 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ235335 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ235336 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ235338 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ235340 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ235351 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ235352 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ235354 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ235356 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ235358 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ235359 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ235360 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ235362 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ235363 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ235364 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ235368 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ235371 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ235377 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ235379 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ408909 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ408910 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ408923 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ408927 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ408935 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ408936 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ408944 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ408951 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ408954 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ430599 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK021845 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK295635 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK303179 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AM050774 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AM050775 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AM050799 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AM050802 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP000941 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP001267 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY187942 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY187943 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY187944 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY187945 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY282403 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY288759 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY288765 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY373585 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY387662 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY839727 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY839728 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY839740 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC015388 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC039603 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC065385 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC090876 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471065 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068267 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D14540 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ224341 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF139427 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FM165198 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HF548060 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JF938533 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JF938536 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L01986 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L04284 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L04731 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MH319859 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MH746808 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MH973314 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MH973316 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MH973318 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MN238612 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MT721856 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MT786685 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MT786686 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MW298863 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MZ443566 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MZ962609 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MZ962610 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MZ962612 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OM870966 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S66432 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S78570 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S78571 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S82034 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U04737 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X83604 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y16604 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y16605 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y18926 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z69744 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z69745 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z69746 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z69747 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z69748 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z69749 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z69750 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z69751 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z69752 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z69753 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z69754 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z69755 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z69756 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z69757 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z69758 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z69759 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z69760 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z69761 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z69762 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z69763 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z69764 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z69765 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z69766 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z69767 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z69768 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z69769 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z69770 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z69771 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z69772 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z69773 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z69774 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z69775 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z69776 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z69777 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z69778 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z69779 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z69780 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000389506   ⟹   ENSP00000374157
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11118,436,490 - 118,523,917 (+)Ensembl
RefSeq Acc Id: ENST00000392873
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11118,481,988 - 118,484,869 (+)Ensembl
RefSeq Acc Id: ENST00000420751
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11118,484,183 - 118,488,760 (+)Ensembl
RefSeq Acc Id: ENST00000525408
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11118,519,557 - 118,522,195 (+)Ensembl
RefSeq Acc Id: ENST00000527839
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11118,509,548 - 118,525,576 (+)Ensembl
RefSeq Acc Id: ENST00000527869   ⟹   ENSP00000432652
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11118,436,492 - 118,482,092 (+)Ensembl
RefSeq Acc Id: ENST00000528278
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11118,495,191 - 118,505,185 (+)Ensembl
RefSeq Acc Id: ENST00000529852   ⟹   ENSP00000436564
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11118,436,456 - 118,449,995 (+)Ensembl
RefSeq Acc Id: ENST00000531904   ⟹   ENSP00000432391
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11118,436,492 - 118,526,832 (+)Ensembl
RefSeq Acc Id: ENST00000532204   ⟹   ENSP00000434618
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11118,436,492 - 118,449,984 (+)Ensembl
RefSeq Acc Id: ENST00000533790   ⟹   ENSP00000436700
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11118,436,492 - 118,482,248 (+)Ensembl
RefSeq Acc Id: ENST00000534085
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11118,505,614 - 118,508,487 (+)Ensembl
RefSeq Acc Id: ENST00000534358   ⟹   ENSP00000436786
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11118,436,492 - 118,526,832 (+)Ensembl
RefSeq Acc Id: ENST00000534678
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11118,508,843 - 118,513,214 (+)Ensembl
RefSeq Acc Id: ENST00000647638
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11118,437,192 - 118,439,173 (+)Ensembl
RefSeq Acc Id: ENST00000647944   ⟹   ENSP00000498134
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11118,506,264 - 118,510,110 (+)Ensembl
RefSeq Acc Id: ENST00000648029
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11118,436,932 - 118,469,103 (+)Ensembl
RefSeq Acc Id: ENST00000648565
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11118,507,902 - 118,522,868 (+)Ensembl
RefSeq Acc Id: ENST00000648910
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11118,467,551 - 118,471,777 (+)Ensembl
RefSeq Acc Id: ENST00000649410
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11118,482,423 - 118,483,204 (+)Ensembl
RefSeq Acc Id: ENST00000649666   ⟹   ENSP00000497918
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11118,436,464 - 118,449,995 (+)Ensembl
RefSeq Acc Id: ENST00000649690   ⟹   ENSP00000497372
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11118,436,492 - 118,482,092 (+)Ensembl
RefSeq Acc Id: ENST00000649699   ⟹   ENSP00000496927
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11118,436,513 - 118,522,172 (+)Ensembl
RefSeq Acc Id: ENST00000649878   ⟹   ENSP00000497891
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11118,499,303 - 118,513,876 (+)Ensembl
RefSeq Acc Id: ENST00000685397   ⟹   ENSP00000509586
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11118,499,303 - 118,519,792 (+)Ensembl
RefSeq Acc Id: ENST00000685498   ⟹   ENSP00000509293
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11118,484,865 - 118,491,928 (+)Ensembl
RefSeq Acc Id: ENST00000685719   ⟹   ENSP00000509757
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11118,474,179 - 118,484,975 (+)Ensembl
RefSeq Acc Id: ENST00000686370   ⟹   ENSP00000509179
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11118,499,303 - 118,519,792 (+)Ensembl
RefSeq Acc Id: ENST00000686588   ⟹   ENSP00000510552
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11118,509,948 - 118,526,832 (+)Ensembl
RefSeq Acc Id: ENST00000688355   ⟹   ENSP00000509621
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11118,491,744 - 118,494,767 (+)Ensembl
RefSeq Acc Id: ENST00000689424   ⟹   ENSP00000509852
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11118,497,936 - 118,506,646 (+)Ensembl
RefSeq Acc Id: ENST00000691002   ⟹   ENSP00000510212
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11118,493,113 - 118,496,367 (+)Ensembl
RefSeq Acc Id: ENST00000691053   ⟹   ENSP00000509168
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11118,436,505 - 118,523,881 (+)Ensembl
RefSeq Acc Id: ENST00000693536   ⟹   ENSP00000509415
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11118,493,113 - 118,496,367 (+)Ensembl
RefSeq Acc Id: ENST00000710560   ⟹   ENSP00000518343
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11118,436,457 - 118,526,832 (+)Ensembl
RefSeq Acc Id: NM_001197104   ⟹   NP_001184033
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811118,436,492 - 118,526,832 (+)NCBI
GRCh3711118,307,205 - 118,397,539 (+)ENTREZGENE
HuRef11114,244,065 - 114,334,229 (+)ENTREZGENE
CHM1_111118,193,852 - 118,284,190 (+)NCBI
T2T-CHM13v2.011118,455,794 - 118,546,121 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001412597   ⟹   NP_001399526
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811118,436,492 - 118,526,832 (+)NCBI
T2T-CHM13v2.011118,455,794 - 118,546,121 (+)NCBI
RefSeq Acc Id: NM_005933   ⟹   NP_005924
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811118,436,492 - 118,526,832 (+)NCBI
GRCh3711118,307,205 - 118,397,539 (+)ENTREZGENE
Build 3611117,812,415 - 117,901,146 (+)NCBI Archive
HuRef11114,244,065 - 114,334,229 (+)ENTREZGENE
CHM1_111118,193,852 - 118,284,190 (+)NCBI
T2T-CHM13v2.011118,455,794 - 118,546,121 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006718839   ⟹   XP_006718902
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811118,436,492 - 118,526,832 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011542829   ⟹   XP_011541131
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811118,436,492 - 118,526,832 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011542830   ⟹   XP_011541132
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811118,436,492 - 118,526,832 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011542833   ⟹   XP_011541135
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811118,436,492 - 118,526,832 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047426963   ⟹   XP_047282919
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811118,436,492 - 118,526,832 (+)NCBI
RefSeq Acc Id: XM_047426964   ⟹   XP_047282920
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811118,436,492 - 118,526,832 (+)NCBI
RefSeq Acc Id: XM_054368830   ⟹   XP_054224805
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.011118,455,794 - 118,546,121 (+)NCBI
RefSeq Acc Id: XM_054368831   ⟹   XP_054224806
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.011118,455,794 - 118,546,121 (+)NCBI
RefSeq Acc Id: XM_054368832   ⟹   XP_054224807
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.011118,455,794 - 118,546,121 (+)NCBI
RefSeq Acc Id: XM_054368833   ⟹   XP_054224808
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.011118,455,794 - 118,546,121 (+)NCBI
RefSeq Acc Id: XM_054368834   ⟹   XP_054224809
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.011118,455,794 - 118,546,121 (+)NCBI
RefSeq Acc Id: XM_054368835   ⟹   XP_054224810
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.011118,455,794 - 118,546,121 (+)NCBI
Protein Sequences
Protein RefSeqs NP_001184033 (Get FASTA)   NCBI Sequence Viewer  
  NP_001399526 (Get FASTA)   NCBI Sequence Viewer  
  NP_005924 (Get FASTA)   NCBI Sequence Viewer  
  XP_006718902 (Get FASTA)   NCBI Sequence Viewer  
  XP_011541131 (Get FASTA)   NCBI Sequence Viewer  
  XP_011541132 (Get FASTA)   NCBI Sequence Viewer  
  XP_011541135 (Get FASTA)   NCBI Sequence Viewer  
  XP_047282919 (Get FASTA)   NCBI Sequence Viewer  
  XP_047282920 (Get FASTA)   NCBI Sequence Viewer  
  XP_054224805 (Get FASTA)   NCBI Sequence Viewer  
  XP_054224806 (Get FASTA)   NCBI Sequence Viewer  
  XP_054224807 (Get FASTA)   NCBI Sequence Viewer  
  XP_054224808 (Get FASTA)   NCBI Sequence Viewer  
  XP_054224809 (Get FASTA)   NCBI Sequence Viewer  
  XP_054224810 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA18644 (Get FASTA)   NCBI Sequence Viewer  
  AAA58669 (Get FASTA)   NCBI Sequence Viewer  
  AAA92511 (Get FASTA)   NCBI Sequence Viewer  
  AAB28545 (Get FASTA)   NCBI Sequence Viewer  
  AAB34770 (Get FASTA)   NCBI Sequence Viewer  
  AAB34771 (Get FASTA)   NCBI Sequence Viewer  
  AAC25956 (Get FASTA)   NCBI Sequence Viewer  
  AAC25957 (Get FASTA)   NCBI Sequence Viewer  
  AAC51814 (Get FASTA)   NCBI Sequence Viewer  
  AAC95283 (Get FASTA)   NCBI Sequence Viewer  
  AAC95284 (Get FASTA)   NCBI Sequence Viewer  
  AAG26334 (Get FASTA)   NCBI Sequence Viewer  
  AAG26335 (Get FASTA)   NCBI Sequence Viewer  
  AAG31978 (Get FASTA)   NCBI Sequence Viewer  
  AAG31979 (Get FASTA)   NCBI Sequence Viewer  
  AAG31982 (Get FASTA)   NCBI Sequence Viewer  
  AAG31983 (Get FASTA)   NCBI Sequence Viewer  
  AAG31984 (Get FASTA)   NCBI Sequence Viewer  
  AAG31985 (Get FASTA)   NCBI Sequence Viewer  
  AAG31986 (Get FASTA)   NCBI Sequence Viewer  
  AAM14566 (Get FASTA)   NCBI Sequence Viewer  
  AAO38742 (Get FASTA)   NCBI Sequence Viewer  
  AAO38743 (Get FASTA)   NCBI Sequence Viewer  
  AAO38744 (Get FASTA)   NCBI Sequence Viewer  
  AAO38745 (Get FASTA)   NCBI Sequence Viewer  
  AAQ63624 (Get FASTA)   NCBI Sequence Viewer  
  AAQ91347 (Get FASTA)   NCBI Sequence Viewer  
  ABB29493 (Get FASTA)   NCBI Sequence Viewer  
  AXN89842 (Get FASTA)   NCBI Sequence Viewer  
  BAA03407 (Get FASTA)   NCBI Sequence Viewer  
  BAD92745 (Get FASTA)   NCBI Sequence Viewer  
  BAG58509 (Get FASTA)   NCBI Sequence Viewer  
  BAG64274 (Get FASTA)   NCBI Sequence Viewer  
  CAA58584 (Get FASTA)   NCBI Sequence Viewer  
  CAA93625 (Get FASTA)   NCBI Sequence Viewer  
  CAB56460 (Get FASTA)   NCBI Sequence Viewer  
  CAQ60122 (Get FASTA)   NCBI Sequence Viewer  
  CCO13771 (Get FASTA)   NCBI Sequence Viewer  
  EAW67380 (Get FASTA)   NCBI Sequence Viewer  
  EAW67381 (Get FASTA)   NCBI Sequence Viewer  
  EAW67382 (Get FASTA)   NCBI Sequence Viewer  
  EAW67383 (Get FASTA)   NCBI Sequence Viewer  
  EAW67384 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000374157
  ENSP00000374157.5
  ENSP00000432391
  ENSP00000432391.3
  ENSP00000432652.3
  ENSP00000434618.2
  ENSP00000436564.2
  ENSP00000436700.3
  ENSP00000436786
  ENSP00000436786.2
  ENSP00000496927.1
  ENSP00000497372.2
  ENSP00000497891.2
  ENSP00000497918.2
  ENSP00000509168.1
  ENSP00000509179.1
  ENSP00000509293.1
  ENSP00000509415.1
  ENSP00000509586.1
  ENSP00000509621.1
  ENSP00000509757.1
  ENSP00000509852.1
  ENSP00000510212.1
  ENSP00000510552.1
  ENSP00000510776.1
  ENSP00000518343
  ENSP00000518343.1
GenBank Protein Q03164 (Get FASTA)   NCBI Sequence Viewer  
  QCI03652 (Get FASTA)   NCBI Sequence Viewer  
  QCI03654 (Get FASTA)   NCBI Sequence Viewer  
  QCI03656 (Get FASTA)   NCBI Sequence Viewer  
  QIH53925 (Get FASTA)   NCBI Sequence Viewer  
  QXU65851 (Get FASTA)   NCBI Sequence Viewer  
  QYV21716 (Get FASTA)   NCBI Sequence Viewer  
  UAA40933 (Get FASTA)   NCBI Sequence Viewer  
  UOF76662 (Get FASTA)   NCBI Sequence Viewer  
  UTQ10389 (Get FASTA)   NCBI Sequence Viewer  
  UTQ10390 (Get FASTA)   NCBI Sequence Viewer  
  UYK52038 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_001184033   ⟸   NM_001197104
- Peptide Label: isoform 1
- UniProtKB: A0A8I5KXR3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_005924   ⟸   NM_005933
- Peptide Label: isoform 2 precursor
- UniProtKB: Q9UD94 (UniProtKB/Swiss-Prot),   Q9HBJ3 (UniProtKB/Swiss-Prot),   Q6UBD1 (UniProtKB/Swiss-Prot),   Q59FF2 (UniProtKB/Swiss-Prot),   Q16364 (UniProtKB/Swiss-Prot),   Q14845 (UniProtKB/Swiss-Prot),   Q13744 (UniProtKB/Swiss-Prot),   Q13743 (UniProtKB/Swiss-Prot),   E9PQG7 (UniProtKB/Swiss-Prot),   Q9UMA3 (UniProtKB/Swiss-Prot),   Q03164 (UniProtKB/Swiss-Prot),   A0A8I5KXR3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006718902   ⟸   XM_006718839
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: XP_011541131   ⟸   XM_011542829
- Peptide Label: isoform X1
- UniProtKB: E9PR05 (UniProtKB/TrEMBL),   A0A8I5KXR3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011541132   ⟸   XM_011542830
- Peptide Label: isoform X2
- UniProtKB: A0A8I5KXR3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011541135   ⟸   XM_011542833
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: ENSP00000497891   ⟸   ENST00000649878
RefSeq Acc Id: ENSP00000496927   ⟸   ENST00000649699
RefSeq Acc Id: ENSP00000497372   ⟸   ENST00000649690
RefSeq Acc Id: ENSP00000497918   ⟸   ENST00000649666
RefSeq Acc Id: ENSP00000432391   ⟸   ENST00000531904
RefSeq Acc Id: ENSP00000434618   ⟸   ENST00000532204
RefSeq Acc Id: ENSP00000374157   ⟸   ENST00000389506
RefSeq Acc Id: ENSP00000436700   ⟸   ENST00000533790
RefSeq Acc Id: ENSP00000436786   ⟸   ENST00000534358
RefSeq Acc Id: ENSP00000432652   ⟸   ENST00000527869
RefSeq Acc Id: ENSP00000436564   ⟸   ENST00000529852
RefSeq Acc Id: ENSP00000498134   ⟸   ENST00000647944
RefSeq Acc Id: ENSP00000510212   ⟸   ENST00000691002
RefSeq Acc Id: ENSP00000509852   ⟸   ENST00000689424
RefSeq Acc Id: ENSP00000509293   ⟸   ENST00000685498
RefSeq Acc Id: ENSP00000509179   ⟸   ENST00000686370
RefSeq Acc Id: ENSP00000510552   ⟸   ENST00000686588
RefSeq Acc Id: ENSP00000509415   ⟸   ENST00000693536
RefSeq Acc Id: ENSP00000509586   ⟸   ENST00000685397
RefSeq Acc Id: ENSP00000509757   ⟸   ENST00000685719
RefSeq Acc Id: ENSP00000509621   ⟸   ENST00000688355
RefSeq Acc Id: ENSP00000509168   ⟸   ENST00000691053
RefSeq Acc Id: XP_047282919   ⟸   XM_047426963
- Peptide Label: isoform X3
RefSeq Acc Id: XP_047282920   ⟸   XM_047426964
- Peptide Label: isoform X6
RefSeq Acc Id: NP_001399526   ⟸   NM_001412597
- Peptide Label: isoform 3
- UniProtKB: A0AA34QVI8 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054224805   ⟸   XM_054368830
- Peptide Label: isoform X1
- UniProtKB: E9PR05 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054224806   ⟸   XM_054368831
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054224807   ⟸   XM_054368832
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054224808   ⟸   XM_054368833
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054224809   ⟸   XM_054368834
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054224810   ⟸   XM_054368835
- Peptide Label: isoform X6
RefSeq Acc Id: ENSP00000518343   ⟸   ENST00000710560
Protein Domains
Bromo   CXXC-type   FYR C-terminal   FYR N-terminal   PHD-type   Post-SET   SET

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q03164-F1-model_v2 AlphaFold Q03164 1-1400 view protein structure
AF-Q03164-F2-model_v2 AlphaFold Q03164 201-1600 view protein structure
AF-Q03164-F3-model_v2 AlphaFold Q03164 401-1800 view protein structure
AF-Q03164-F4-model_v2 AlphaFold Q03164 601-2000 view protein structure
AF-Q03164-F5-model_v2 AlphaFold Q03164 801-2200 view protein structure
AF-Q03164-F6-model_v2 AlphaFold Q03164 1001-2400 view protein structure
AF-Q03164-F7-model_v2 AlphaFold Q03164 1201-2600 view protein structure
AF-Q03164-F8-model_v2 AlphaFold Q03164 1401-2800 view protein structure
AF-Q03164-F9-model_v2 AlphaFold Q03164 1601-3000 view protein structure
AF-Q03164-F10-model_v2 AlphaFold Q03164 1801-3200 view protein structure
AF-Q03164-F11-model_v2 AlphaFold Q03164 2001-3400 view protein structure
AF-Q03164-F12-model_v2 AlphaFold Q03164 2201-3600 view protein structure
AF-Q03164-F13-model_v2 AlphaFold Q03164 2401-3800 view protein structure
AF-Q03164-F14-model_v2 AlphaFold Q03164 2601-3969 view protein structure

Promoters
RGD ID:6789110
Promoter ID:HG_KWN:14320
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000328469,   ENST00000354520,   NM_005933,   UC001PSZ.1,   UC001PTB.1
Position:
Human AssemblyChrPosition (strand)Source
Build 3611117,811,441 - 117,812,542 (+)MPROMDB
RGD ID:6788764
Promoter ID:HG_KWN:14325
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell
Transcripts:ENST00000392873
Position:
Human AssemblyChrPosition (strand)Source
Build 3611117,864,301 - 117,864,801 (+)MPROMDB
RGD ID:6788519
Promoter ID:HG_KWN:14326
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562,   Lymphoblastoid,   NB4
Transcripts:UC001PTF.2
Position:
Human AssemblyChrPosition (strand)Source
Build 3611117,900,391 - 117,902,167 (+)MPROMDB
RGD ID:7222305
Promoter ID:EPDNEW_H16898
Type:initiation region
Name:KMT2A_1
Description:lysine methyltransferase 2A
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H16899  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811118,436,497 - 118,436,557EPDNEW
RGD ID:7222307
Promoter ID:EPDNEW_H16899
Type:initiation region
Name:KMT2A_2
Description:lysine methyltransferase 2A
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H16898  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811118,481,865 - 118,481,925EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:7132 AgrOrtholog
COSMIC KMT2A COSMIC
Ensembl Genes ENSG00000118058 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000389506 ENTREZGENE
  ENST00000389506.10 UniProtKB/Swiss-Prot
  ENST00000420751.4 UniProtKB/TrEMBL
  ENST00000527869.7 UniProtKB/TrEMBL
  ENST00000529852.3 UniProtKB/TrEMBL
  ENST00000531904 ENTREZGENE
  ENST00000531904.7 UniProtKB/TrEMBL
  ENST00000532204.6 UniProtKB/TrEMBL
  ENST00000533790.3 UniProtKB/TrEMBL
  ENST00000534358 ENTREZGENE
  ENST00000534358.8 UniProtKB/Swiss-Prot
  ENST00000649666.2 UniProtKB/TrEMBL
  ENST00000649690.2 UniProtKB/TrEMBL
  ENST00000649699.1 UniProtKB/Swiss-Prot
  ENST00000649878.2 UniProtKB/TrEMBL
  ENST00000685397.1 UniProtKB/TrEMBL
  ENST00000685498.1 UniProtKB/TrEMBL
  ENST00000685719.1 UniProtKB/TrEMBL
  ENST00000686370.1 UniProtKB/TrEMBL
  ENST00000686588.1 UniProtKB/TrEMBL
  ENST00000688355.1 UniProtKB/TrEMBL
  ENST00000689424.1 UniProtKB/TrEMBL
  ENST00000691002.1 UniProtKB/TrEMBL
  ENST00000691053.1 UniProtKB/TrEMBL
  ENST00000693536.1 UniProtKB/TrEMBL
  ENST00000710560 ENTREZGENE
  ENST00000710560.1 UniProtKB/TrEMBL
Gene3D-CATH 1.20.920.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  2.170.270.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.30.160.360 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.30.40.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  6.10.250.2390 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000118058 GTEx
HGNC ID HGNC:7132 ENTREZGENE
Human Proteome Map KMT2A Human Proteome Map
InterPro Bromodomain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Bromodomain-like_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EPHD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FYrich_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FYrich_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  KMT2A_2B_SET UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  KMT2A_ePHD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  KMT2A_PHD1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  KMT2A_PHD2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  KMT2A_PHD3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MAML1-3 UniProtKB/TrEMBL
  MeTrfase_trithorax UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Post-SET_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SET_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SET_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Zinc_finger_PHD-type_CS UniProtKB/TrEMBL
  Znf_CXXC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_FYVE_PHD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_PHD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_PHD-finger UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_RING/FYVE/PHD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:4297 UniProtKB/Swiss-Prot
NCBI Gene 4297 ENTREZGENE
OMIM 159555 OMIM
PANTHER HISTONE-LYSINE-N-METHYLTRANSFERASE 2 KMT2 FAMILY MEMBER UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MASTERMIND-LIKE PROTEIN 2 UniProtKB/TrEMBL
  PTHR15692 UniProtKB/TrEMBL
  PTHR45838:SF2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Bromodomain UniProtKB/TrEMBL
  FYRC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FYRN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PHD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SET UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  zf-CXXC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  zf-HC5HC2H UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB MLL RGD, PharmGKB
PIRSF Methyltransferase_trithorax UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE BROMODOMAIN_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EPHD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FYRC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FYRN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  POST_SET UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SET UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ZF_CXXC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ZF_PHD_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ZF_PHD_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART BROMO UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FYRC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FYRN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PHD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PostSET UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SET UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF47370 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF57903 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF82199 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A3B3ISN4_HUMAN UniProtKB/TrEMBL
  A0A3B3ITT0_HUMAN UniProtKB/TrEMBL
  A0A3B3ITT7_HUMAN UniProtKB/TrEMBL
  A0A3S6YZ73_HUMAN UniProtKB/TrEMBL
  A0A4D6WIU0_HUMAN UniProtKB/TrEMBL
  A0A4D6WLI1_HUMAN UniProtKB/TrEMBL
  A0A7G9ZE50_HUMAN UniProtKB/TrEMBL
  A0A8F7GQG2_HUMAN UniProtKB/TrEMBL
  A0A8I5KQ03_HUMAN UniProtKB/TrEMBL
  A0A8I5KQV5_HUMAN UniProtKB/TrEMBL
  A0A8I5KRT6_HUMAN UniProtKB/TrEMBL
  A0A8I5KRW5_HUMAN UniProtKB/TrEMBL
  A0A8I5KTQ4_HUMAN UniProtKB/TrEMBL
  A0A8I5KVD4_HUMAN UniProtKB/TrEMBL
  A0A8I5KVV7_HUMAN UniProtKB/TrEMBL
  A0A8I5KW84_HUMAN UniProtKB/TrEMBL
  A0A8I5KXR3 ENTREZGENE, UniProtKB/TrEMBL
  A0A8I5KY70_HUMAN UniProtKB/TrEMBL
  A0A8I5QJJ1_HUMAN UniProtKB/TrEMBL
  A0AA34QVI8 ENTREZGENE, UniProtKB/TrEMBL
  E9PQG7 ENTREZGENE
  E9PR05 ENTREZGENE, UniProtKB/TrEMBL
  H0YEU4_HUMAN UniProtKB/TrEMBL
  H7C5V8_HUMAN UniProtKB/TrEMBL
  H7C5W4_HUMAN UniProtKB/TrEMBL
  KMT2A_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q13743 ENTREZGENE
  Q13744 ENTREZGENE
  Q14845 ENTREZGENE
  Q16364 ENTREZGENE
  Q59FF2 ENTREZGENE
  Q6UBD1 ENTREZGENE
  Q9HBJ3 ENTREZGENE
  Q9UD94 ENTREZGENE
  Q9UMA3 ENTREZGENE
UniProt Secondary E9PQG7 UniProtKB/Swiss-Prot
  Q13743 UniProtKB/Swiss-Prot
  Q13744 UniProtKB/Swiss-Prot
  Q14845 UniProtKB/Swiss-Prot
  Q16364 UniProtKB/Swiss-Prot
  Q59FF2 UniProtKB/Swiss-Prot
  Q6UBD1 UniProtKB/Swiss-Prot
  Q9HBJ3 UniProtKB/Swiss-Prot
  Q9UD94 UniProtKB/Swiss-Prot
  Q9UMA3 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-03-25 KMT2A  lysine methyltransferase 2A  FLJ11783  hypothetical protein FLJ11783  Data merged from RGD:1605337 737654 PROVISIONAL
2016-02-16 KMT2A  lysine methyltransferase 2A  KMT2A  lysine (K)-specific methyltransferase 2A  Symbol and/or name change 5135510 APPROVED
2013-05-14 KMT2A  lysine (K)-specific methyltransferase 2A  MLL  myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)  Symbol and/or name change 5135510 APPROVED