DMXL2 (Dmx like 2) - Rat Genome Database

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Gene: DMXL2 (Dmx like 2) Homo sapiens
Analyze
Symbol: DMXL2
Name: Dmx like 2
RGD ID: 1347338
HGNC Page HGNC:2938
Description: Enables small GTPase binding activity. Predicted to be involved in vacuolar acidification. Predicted to act upstream of or within several processes, including corpus callosum development; glucose homeostasis; and spermatogenesis. Located in synaptic vesicle. Implicated in autosomal dominant nonsyndromic deafness 71 and developmental and epileptic encephalopathy 81.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: DEE81; DFNA71; Dmx-like 2; dmX-like protein 2; EIEE81; FLJ26672; KIAA0856; PEPNS; rabconnectin-3; RC3
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
GRCh381551,447,791 - 51,622,771 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1551,447,711 - 51,622,833 (-)EnsemblGRCh38hg38GRCh38
GRCh371551,739,988 - 51,914,968 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361549,527,229 - 49,702,259 (-)NCBINCBI36Build 36hg18NCBI36
Build 341549,528,180 - 49,702,241NCBI
Celera1528,633,317 - 28,808,362 (-)NCBICelera
Cytogenetic Map15q21.2NCBI
HuRef1528,569,985 - 28,745,024 (-)NCBIHuRef
CHM1_11551,858,027 - 52,033,010 (-)NCBICHM1_1
T2T-CHM13v2.01549,255,566 - 49,430,224 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal pyramidal sign  (IAGP)
Abnormal thyroid-stimulating hormone level  (IAGP)
Abnormal vestibular function  (IAGP)
Abnormality of the sense of smell  (IAGP)
Absent thumbnail  (IAGP)
Alopecia  (IAGP)
Amenorrhea  (IAGP)
Anterior pituitary hypoplasia  (IAGP)
Anteverted nares  (IAGP)
Ataxia  (IAGP)
Atonic seizure  (IAGP)
Autistic behavior  (IAGP)
Autosomal dominant inheritance  (IAGP)
Autosomal recessive inheritance  (IAGP)
Bilateral tonic-clonic seizure  (IAGP)
Broad finger  (IAGP)
Broad phalanx of the toes  (IAGP)
Central hypothyroidism  (IAGP)
Cerebellar atrophy  (IAGP)
Cerebellar hypoplasia  (IAGP)
Childhood onset  (IAGP)
Choreoathetosis  (IAGP)
Cleft palate  (IAGP)
Concave nasal ridge  (IAGP)
Congenital onset  (IAGP)
Decreased circulating follicle stimulating hormone concentration  (IAGP)
Decreased circulating luteinizing hormone level  (IAGP)
Decreased serum testosterone concentration  (IAGP)
Decreased testicular size  (IAGP)
Delayed myelination  (IAGP)
Demyelinating peripheral neuropathy  (IAGP)
Depressed nasal bridge  (IAGP)
Developmental regression  (IAGP)
Diffuse cerebral atrophy  (IAGP)
Diffuse white matter abnormalities  (IAGP)
Dolichocephaly  (IAGP)
Downslanted palpebral fissures  (IAGP)
Dysarthria  (IAGP)
Dyskinesia  (IAGP)
Dystonia  (IAGP)
EEG abnormality  (IAGP)
EEG with burst suppression  (IAGP)
EEG with spike-wave complexes  (IAGP)
Elevated hemoglobin A1c  (IAGP)
EMG: slow motor conduction  (IAGP)
Epicanthus  (IAGP)
Episodic ataxia  (IAGP)
Failure to thrive  (IAGP)
Febrile seizure (within the age range of 3 months to 6 years)  (IAGP)
Focal clonic seizure  (IAGP)
Focal-onset seizure  (IAGP)
Generalized clonic seizure  (IAGP)
Generalized non-motor (absence) seizure  (IAGP)
Generalized tonic seizure  (IAGP)
Global developmental delay  (IAGP)
Hearing impairment  (IAGP)
High palate  (IAGP)
Hyperactivity  (IAGP)
Hypoglycemia  (IAGP)
Hypogonadotropic hypogonadism  (IAGP)
Hypoinsulinemia  (IAGP)
Hypoplasia of the corpus callosum  (IAGP)
Hypsarrhythmia  (IAGP)
Infantile muscular hypotonia  (IAGP)
Infantile spasms  (IAGP)
Intellectual disability  (IAGP)
Intellectual disability, moderate  (IAGP)
Intellectual disability, profound  (IAGP)
Microcephaly  (IAGP)
Micropenis  (IAGP)
Motor delay  (IAGP)
Myoclonic seizure  (IAGP)
Myoclonus  (IAGP)
Myopathic facies  (IAGP)
Pachygyria  (IAGP)
Peripheral neuropathy  (IAGP)
Pes cavus  (IAGP)
Polyneuropathy  (IAGP)
Poor head control  (IAGP)
Postnatal growth retardation  (IAGP)
Precocious puberty  (IAGP)
Progressive  (IAGP)
Progressive hearing impairment  (IAGP)
Proximal muscle weakness in lower limbs  (IAGP)
Renal dysplasia  (IAGP)
Seizure  (IAGP)
Self-injurious behavior  (IAGP)
Sensorineural hearing impairment  (IAGP)
Severe muscular hypotonia  (IAGP)
Short finger  (IAGP)
Short stature  (IAGP)
Sleep abnormality  (IAGP)
Sloping forehead  (IAGP)
Small forehead  (IAGP)
Spastic paraplegia  (IAGP)
Spasticity  (IAGP)
Strabismus  (IAGP)
Tonic seizure  (IAGP)
Tremor  (IAGP)
Type I diabetes mellitus  (IAGP)
Type II diabetes mellitus  (IAGP)
Umbilical hernia  (IAGP)
Uni- and bilateral multifocal epileptiform discharges  (IAGP)
Ureterocele  (IAGP)
Ventricular septal defect  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
3. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
5. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:10048485   PMID:11809763   PMID:12168954   PMID:12477932   PMID:12786944   PMID:15144186   PMID:16344560   PMID:19023099   PMID:20810660   PMID:21873635   PMID:22664934   PMID:23414517  
PMID:25248098   PMID:26093085   PMID:26186194   PMID:26514267   PMID:26972000   PMID:27657680   PMID:28514442   PMID:29507755   PMID:29576527   PMID:30732576   PMID:31091453   PMID:31688942  
PMID:32457219   PMID:32665550   PMID:33715530   PMID:33957083   PMID:33961781   PMID:34079125   PMID:34369648   PMID:34432599   PMID:34857952   PMID:35271311   PMID:35914814   PMID:36114006  
PMID:36543142   PMID:36634849  


Genomics

Comparative Map Data
DMXL2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381551,447,791 - 51,622,771 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1551,447,711 - 51,622,833 (-)EnsemblGRCh38hg38GRCh38
GRCh371551,739,988 - 51,914,968 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361549,527,229 - 49,702,259 (-)NCBINCBI36Build 36hg18NCBI36
Build 341549,528,180 - 49,702,241NCBI
Celera1528,633,317 - 28,808,362 (-)NCBICelera
Cytogenetic Map15q21.2NCBI
HuRef1528,569,985 - 28,745,024 (-)NCBIHuRef
CHM1_11551,858,027 - 52,033,010 (-)NCBICHM1_1
T2T-CHM13v2.01549,255,566 - 49,430,224 (-)NCBIT2T-CHM13v2.0
Dmxl2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39954,272,442 - 54,409,150 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl954,272,442 - 54,408,910 (-)EnsemblGRCm39 Ensembl
GRCm38954,365,158 - 54,501,866 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl954,365,158 - 54,501,626 (-)EnsemblGRCm38mm10GRCm38
MGSCv37954,212,965 - 54,349,433 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36954,163,295 - 54,300,216 (-)NCBIMGSCv36mm8
Celera951,607,730 - 51,744,103 (-)NCBICelera
Cytogenetic Map9A5.3NCBI
cM Map929.58NCBI
Dmxl2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8863,637,314 - 63,803,911 (-)NCBIGRCr8
mRatBN7.2854,741,164 - 54,884,948 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl854,741,160 - 54,885,161 (-)EnsemblmRatBN7.2 Ensembl
Rnor_6.0858,932,575 - 59,077,788 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl858,932,580 - 59,077,690 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0857,508,009 - 57,658,319 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4857,857,243 - 58,047,495 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera854,231,921 - 54,355,025 (-)NCBICelera
Cytogenetic Map8q24NCBI
Dmxl2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554092,934,740 - 3,089,703 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554092,934,755 - 3,089,572 (+)NCBIChiLan1.0ChiLan1.0
DMXL2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21640,681,331 - 40,853,531 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11544,861,796 - 45,033,992 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01530,386,009 - 30,557,976 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11548,719,144 - 48,890,793 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1548,719,150 - 48,890,708 (-)Ensemblpanpan1.1panPan2
DMXL2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13017,156,077 - 17,308,641 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl3017,156,791 - 17,308,803 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3017,082,692 - 17,235,590 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.03017,301,686 - 17,454,656 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl3017,301,699 - 17,454,485 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.13017,223,785 - 17,376,247 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.03017,341,368 - 17,495,042 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.03017,447,910 - 17,600,883 (-)NCBIUU_Cfam_GSD_1.0
Dmxl2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440864095,482,807 - 95,635,550 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493647113,329,622 - 13,483,937 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493647113,330,870 - 13,483,610 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
DMXL2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1120,138,336 - 120,298,586 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11120,138,249 - 120,298,603 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21133,338,228 - 133,450,265 (+)NCBISscrofa10.2Sscrofa10.2susScr3
DMXL2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12631,750,419 - 31,922,022 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2631,750,403 - 31,922,208 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666048109,282,977 - 109,463,900 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Dmxl2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247318,702,137 - 8,842,653 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247318,702,288 - 8,843,807 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in DMXL2
1378 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001378457.1(DMXL2):c.6137C>T (p.Ala2046Val) single nucleotide variant Autism spectrum disorder [RCV001291502] Chr15:51480969 [GRCh38]
Chr15:51773166 [GRCh37]
Chr15:15q21.2		 association
NM_015263.3(DMXL2):c.7923+646C>G single nucleotide variant Lung cancer [RCV000099542] Chr15:51462733 [GRCh38]
Chr15:51754930 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_015263.3(DMXL2):c.568-2866G>T single nucleotide variant Lung cancer [RCV000099543] Chr15:51550274 [GRCh38]
Chr15:51842471 [GRCh37]
Chr15:15q21.2		 uncertain significance
GRCh38/hg38 15q21.1-21.3(chr15:46042302-54195828)x1 copy number loss See cases [RCV000051619] Chr15:46042302..54195828 [GRCh38]
Chr15:46334500..54488025 [GRCh37]
Chr15:44121792..52275317 [NCBI36]
Chr15:15q21.1-21.3		 pathogenic
GRCh38/hg38 15q21.1-21.3(chr15:48695331-53923002)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051620]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051620]|See cases [RCV000051620] Chr15:48695331..53923002 [GRCh38]
Chr15:48987528..54215199 [GRCh37]
Chr15:46774820..52002491 [NCBI36]
Chr15:15q21.1-21.3		 pathogenic
GRCh38/hg38 15q21.2-22.2(chr15:50864913-59646577)x1 copy number loss See cases [RCV000051621] Chr15:50864913..59646577 [GRCh38]
Chr15:51157110..59938776 [GRCh37]
Chr15:48944402..57726068 [NCBI36]
Chr15:15q21.2-22.2		 pathogenic
NM_015263.3(DMXL2):c.6477C>T (p.Leu2159=) single nucleotide variant Malignant melanoma [RCV000070817] Chr15:51480629 [GRCh38]
Chr15:51772826 [GRCh37]
Chr15:49560118 [NCBI36]
Chr15:15q21.2		 not provided
NM_015263.3(DMXL2):c.1652C>T (p.Pro551Leu) single nucleotide variant Malignant melanoma [RCV000070818] Chr15:51536828 [GRCh38]
Chr15:51829025 [GRCh37]
Chr15:49616317 [NCBI36]
Chr15:15q21.2		 not provided
NM_015263.3(DMXL2):c.8855C>T (p.Pro2952Leu) single nucleotide variant Malignant melanoma [RCV000062889] Chr15:51450175 [GRCh38]
Chr15:51742372 [GRCh37]
Chr15:49529664 [NCBI36]
Chr15:15q21.2		 not provided
NM_015263.3(DMXL2):c.6834-5A>G single nucleotide variant Malignant melanoma [RCV000062890] Chr15:51476721 [GRCh38]
Chr15:51768918 [GRCh37]
Chr15:49556210 [NCBI36]
Chr15:15q21.2		 not provided
NM_015263.3(DMXL2):c.4473C>A (p.Asn1491Lys) single nucleotide variant Malignant melanoma [RCV000062891] Chr15:51498751 [GRCh38]
Chr15:51790948 [GRCh37]
Chr15:49578240 [NCBI36]
Chr15:15q21.2		 not provided
NM_001378457.1(DMXL2):c.2522A>G (p.Asn841Ser) single nucleotide variant Developmental and epileptic encephalopathy, 81 [RCV003126399] Chr15:51517082 [GRCh38]
Chr15:51809279 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.5827_5841del (p.Asp1943_Ser1947del) deletion Polyendocrine-polyneuropathy syndrome [RCV000148930]|See cases [RCV002252004]|not provided [RCV001299879] Chr15:51481265..51481279 [GRCh38]
Chr15:51773462..51773476 [GRCh37]
Chr15:15q21.2		 pathogenic|likely pathogenic|uncertain significance
GRCh38/hg38 15q21.1-21.2(chr15:47460844-52494222)x1 copy number loss See cases [RCV000135639] Chr15:47460844..52494222 [GRCh38]
Chr15:47753041..52786419 [GRCh37]
Chr15:45540333..50573711 [NCBI36]
Chr15:15q21.1-21.2		 pathogenic
GRCh38/hg38 15q21.2-21.3(chr15:51276690-57088386)x1 copy number loss See cases [RCV000136661] Chr15:51276690..57088386 [GRCh38]
Chr15:51568887..57380584 [GRCh37]
Chr15:49356179..55167876 [NCBI36]
Chr15:15q21.2-21.3		 pathogenic
NM_001378457.1(DMXL2):c.7250G>A (p.Arg2417His) single nucleotide variant Hearing loss, autosomal dominant 71 [RCV000496988]|not provided [RCV002524064] Chr15:51471365 [GRCh38]
Chr15:51763562 [GRCh37]
Chr15:15q21.2		 pathogenic|likely pathogenic|uncertain significance
GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4 copy number gain See cases [RCV000447123] Chr15:41745084..102354798 [GRCh37]
Chr15:15q15.1-26.3		 pathogenic
NM_001378457.1(DMXL2):c.2707A>G (p.Asn903Asp) single nucleotide variant not provided [RCV000424092] Chr15:51507191 [GRCh38]
Chr15:51799388 [GRCh37]
Chr15:15q21.2		 benign|likely benign
GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4 copy number gain See cases [RCV000447765] Chr15:20733395..102511616 [GRCh37]
Chr15:15q11.2-26.3		 pathogenic
GRCh37/hg19 15q15.1-21.2(chr15:41689327-52446981)x1 copy number loss See cases [RCV000448968] Chr15:41689327..52446981 [GRCh37]
Chr15:15q15.1-21.2		 pathogenic
GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3 copy number gain See cases [RCV000510717] Chr15:22770422..102429112 [GRCh37]
Chr15:15q11.2-26.3		 pathogenic
GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112) copy number gain See cases [RCV000512019] Chr15:22770422..102429112 [GRCh37]
Chr15:15q11.2-26.3		 pathogenic
GRCh37/hg19 15q21.2(chr15:50870407-51764302)x3 copy number gain See cases [RCV000510773] Chr15:50870407..51764302 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.9115C>G (p.Leu3039Val) single nucleotide variant Inborn genetic diseases [RCV003253403] Chr15:51449046 [GRCh38]
Chr15:51741243 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.2417T>C (p.Leu806Ser) single nucleotide variant Inborn genetic diseases [RCV003257666] Chr15:51535682 [GRCh38]
Chr15:51827879 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.2846C>G (p.Ser949Cys) single nucleotide variant Inborn genetic diseases [RCV003292933] Chr15:51502952 [GRCh38]
Chr15:51795149 [GRCh37]
Chr15:15q21.2		 uncertain significance
Single allele duplication not provided [RCV000677926] Chr15:31115047..102354857 [GRCh37]
Chr15:15q13.2-26.3		 pathogenic
NM_001378457.1(DMXL2):c.6221A>G (p.Tyr2074Cys) single nucleotide variant Inborn genetic diseases [RCV003258380] Chr15:51480885 [GRCh38]
Chr15:51773082 [GRCh37]
Chr15:15q21.2		 uncertain significance
GRCh37/hg19 15q15.3-21.3(chr15:43759773-53252240)x1 copy number loss not provided [RCV000683686] Chr15:43759773..53252240 [GRCh37]
Chr15:15q15.3-21.3		 pathogenic
GRCh37/hg19 15q21.2-21.3(chr15:50727285-57603305)x3 copy number gain not provided [RCV000683691] Chr15:50727285..57603305 [GRCh37]
Chr15:15q21.2-21.3		 pathogenic
GRCh37/hg19 15q21.2(chr15:51673125-51942596)x1 copy number loss not provided [RCV000709940] Chr15:51673125..51942596 [GRCh37]
Chr15:15q21.2		 not provided
NM_001378457.1(DMXL2):c.3880G>A (p.Ala1294Thr) single nucleotide variant DMXL2-related condition [RCV003947959]|not provided [RCV000881396]|not specified [RCV000736053] Chr15:51499344 [GRCh38]
Chr15:51791541 [GRCh37]
Chr15:15q21.2		 likely benign
GRCh37/hg19 15q11.1-26.3(chr15:20016811-102493540)x3 copy number gain not provided [RCV000751155] Chr15:20016811..102493540 [GRCh37]
Chr15:15q11.1-26.3		 pathogenic
GRCh37/hg19 15q11.1-26.3(chr15:20071673-102461162)x3 copy number gain not provided [RCV000751156] Chr15:20071673..102461162 [GRCh37]
Chr15:15q11.1-26.3		 pathogenic
NM_001378457.1(DMXL2):c.364+65G>A single nucleotide variant not provided [RCV001692670] Chr15:51565023 [GRCh38]
Chr15:51857220 [GRCh37]
Chr15:15q21.2		 benign
NM_001378457.1(DMXL2):c.3624G>A (p.Lys1208=) single nucleotide variant DMXL2-related condition [RCV003957957]|not provided [RCV000891583] Chr15:51499600 [GRCh38]
Chr15:51791797 [GRCh37]
Chr15:15q21.2		 benign|likely benign
NM_001378457.1(DMXL2):c.8968-189G>A single nucleotide variant not provided [RCV001690436] Chr15:51449382 [GRCh38]
Chr15:51741579 [GRCh37]
Chr15:15q21.2		 benign
NM_001378457.1(DMXL2):c.9G>A (p.Leu3=) single nucleotide variant not provided [RCV000960797] Chr15:51622537 [GRCh38]
Chr15:51914734 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.5616C>T (p.Asn1872=) single nucleotide variant not provided [RCV000980411] Chr15:51481490 [GRCh38]
Chr15:51773687 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.4478C>G (p.Ser1493Ter) single nucleotide variant Developmental and epileptic encephalopathy, 81 [RCV000856589] Chr15:51498746 [GRCh38]
Chr15:51790943 [GRCh37]
Chr15:15q21.2		 pathogenic
NM_001378457.1(DMXL2):c.6257_6258insTTACATGA (p.Glu2086fs) insertion Developmental and epileptic encephalopathy, 81 [RCV000856587] Chr15:51480848..51480849 [GRCh38]
Chr15:51773045..51773046 [GRCh37]
Chr15:15q21.2		 pathogenic
NM_001378457.1(DMXL2):c.8898_8901dup (p.Lys2968delinsTyrTer) duplication not provided [RCV001090828] Chr15:51450194..51450195 [GRCh38]
Chr15:51742391..51742392 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.4187C>T (p.Ser1396Phe) single nucleotide variant DMXL2-related condition [RCV003940418]|Inborn genetic diseases [RCV002539296]|not provided [RCV000880662] Chr15:51499037 [GRCh38]
Chr15:51791234 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.3860G>T (p.Ser1287Ile) single nucleotide variant Polyendocrine-polyneuropathy syndrome [RCV002489372]|not provided [RCV000964343] Chr15:51499364 [GRCh38]
Chr15:51791561 [GRCh37]
Chr15:15q21.2		 benign|likely benign
NM_001378457.1(DMXL2):c.9150C>A (p.Ile3050=) single nucleotide variant not provided [RCV000921677] Chr15:51449011 [GRCh38]
Chr15:51741208 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.23C>G (p.Thr8Ser) single nucleotide variant DMXL2-related condition [RCV003926109]|not provided [RCV000959738] Chr15:51622523 [GRCh38]
Chr15:51914720 [GRCh37]
Chr15:15q21.2		 benign|likely benign|conflicting interpretations of pathogenicity
NM_001378457.1(DMXL2):c.3459A>G (p.Ala1153=) single nucleotide variant not provided [RCV000879388] Chr15:51499765 [GRCh38]
Chr15:51791962 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.1491G>C (p.Thr497=) single nucleotide variant not provided [RCV000882862] Chr15:51537614 [GRCh38]
Chr15:51829811 [GRCh37]
Chr15:15q21.2		 benign
NM_001378457.1(DMXL2):c.4299A>G (p.Ala1433=) single nucleotide variant not provided [RCV000901738] Chr15:51498925 [GRCh38]
Chr15:51791122 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.1008C>T (p.Pro336=) single nucleotide variant DMXL2-related condition [RCV003968013]|not provided [RCV000882863] Chr15:51542430 [GRCh38]
Chr15:51834627 [GRCh37]
Chr15:15q21.2		 benign
NM_001378457.1(DMXL2):c.6046G>A (p.Asp2016Asn) single nucleotide variant DMXL2-related condition [RCV003968153]|not provided [RCV000893444] Chr15:51481060 [GRCh38]
Chr15:51773257 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.5946C>T (p.His1982=) single nucleotide variant not provided [RCV000903085] Chr15:51481160 [GRCh38]
Chr15:51773357 [GRCh37]
Chr15:15q21.2		 benign
NM_001378457.1(DMXL2):c.368A>G (p.Asn123Ser) single nucleotide variant not provided [RCV000901423] Chr15:51564257 [GRCh38]
Chr15:51856454 [GRCh37]
Chr15:15q21.2		 benign
NM_001378457.1(DMXL2):c.88-5_88-3dup duplication not provided [RCV000971629] Chr15:51576183..51576184 [GRCh38]
Chr15:51868380..51868381 [GRCh37]
Chr15:15q21.2		 benign
NM_001378457.1(DMXL2):c.4334T>C (p.Ile1445Thr) single nucleotide variant not provided [RCV000968301] Chr15:51498890 [GRCh38]
Chr15:51791087 [GRCh37]
Chr15:15q21.2		 benign
NM_001378457.1(DMXL2):c.8701G>C (p.Val2901Leu) single nucleotide variant not provided [RCV000995360] Chr15:51451693 [GRCh38]
Chr15:51743890 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.5482+8G>A single nucleotide variant not provided [RCV000900230] Chr15:51486065 [GRCh38]
Chr15:51778262 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.6756+8A>G single nucleotide variant not provided [RCV000915518] Chr15:51479940 [GRCh38]
Chr15:51772137 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.8035C>T (p.His2679Tyr) single nucleotide variant not provided [RCV000919600] Chr15:51458750 [GRCh38]
Chr15:51750947 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.5135C>T (p.Ala1712Val) single nucleotide variant Developmental and epileptic encephalopathy, 81 [RCV000856590] Chr15:51488036 [GRCh38]
Chr15:51780233 [GRCh37]
Chr15:15q21.2		 pathogenic
NM_001378457.1(DMXL2):c.2041T>G (p.Cys681Gly) single nucleotide variant DMXL2-related condition [RCV003913080]|not provided [RCV000918222] Chr15:51536439 [GRCh38]
Chr15:51828636 [GRCh37]
Chr15:15q21.2		 benign
NM_001378457.1(DMXL2):c.2866C>A (p.Pro956Thr) single nucleotide variant DMXL2-related condition [RCV003957977]|not provided [RCV000892692] Chr15:51502932 [GRCh38]
Chr15:51795129 [GRCh37]
Chr15:15q21.2		 benign
NM_001378457.1(DMXL2):c.2136T>G (p.Thr712=) single nucleotide variant not provided [RCV000916505] Chr15:51536344 [GRCh38]
Chr15:51828541 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.2251T>C (p.Leu751=) single nucleotide variant not provided [RCV000921643] Chr15:51536229 [GRCh38]
Chr15:51828426 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.8193C>T (p.Ser2731=) single nucleotide variant not provided [RCV000927136] Chr15:51458511 [GRCh38]
Chr15:51750708 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.861C>T (p.Thr287=) single nucleotide variant not provided [RCV000906459] Chr15:51545652 [GRCh38]
Chr15:51837849 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.7225C>T (p.Leu2409Phe) single nucleotide variant not provided [RCV000891563] Chr15:51471390 [GRCh38]
Chr15:51763587 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.4478C>A (p.Ser1493Ter) single nucleotide variant Developmental and epileptic encephalopathy, 81 [RCV000856588] Chr15:51498746 [GRCh38]
Chr15:51790943 [GRCh37]
Chr15:15q21.2		 pathogenic
NM_001378457.1(DMXL2):c.5340A>T (p.Gln1780His) single nucleotide variant DMXL2-related condition [RCV003968140]|not provided [RCV000892164] Chr15:51486215 [GRCh38]
Chr15:51778412 [GRCh37]
Chr15:15q21.2		 benign
NM_001378457.1(DMXL2):c.7521-1G>A single nucleotide variant Developmental and epileptic encephalopathy, 81 [RCV000856591] Chr15:51465652 [GRCh38]
Chr15:51757849 [GRCh37]
Chr15:15q21.2		 pathogenic
GRCh37/hg19 15q21.2-21.3(chr15:50083229-53439931)x1 copy number loss not provided [RCV000848123] Chr15:50083229..53439931 [GRCh37]
Chr15:15q21.2-21.3		 uncertain significance
NM_001378457.1(DMXL2):c.3141T>C (p.His1047=) single nucleotide variant not provided [RCV000917388] Chr15:51500083 [GRCh38]
Chr15:51792280 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.2223A>G (p.Gly741=) single nucleotide variant not provided [RCV000979224] Chr15:51536257 [GRCh38]
Chr15:51828454 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.321T>C (p.Phe107=) single nucleotide variant not provided [RCV000940530] Chr15:51565131 [GRCh38]
Chr15:51857328 [GRCh37]
Chr15:15q21.2		 likely benign
GRCh37/hg19 15q21.1-22.2(chr15:48000433-60747551)x3 copy number gain not provided [RCV000845891] Chr15:48000433..60747551 [GRCh37]
Chr15:15q21.1-22.2		 pathogenic
GRCh37/hg19 15q21.2(chr15:51735136-52620104)x1 copy number loss not provided [RCV000849163] Chr15:51735136..52620104 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.1491G>A (p.Thr497=) single nucleotide variant not provided [RCV000914132] Chr15:51537614 [GRCh38]
Chr15:51829811 [GRCh37]
Chr15:15q21.2		 likely benign
GRCh37/hg19 15q21.1-21.3(chr15:49031132-56740397)x3 copy number gain not provided [RCV000849275] Chr15:49031132..56740397 [GRCh37]
Chr15:15q21.1-21.3		 pathogenic
GRCh37/hg19 15q21.2(chr15:51717028-51792612)x3 copy number gain not provided [RCV000849785] Chr15:51717028..51792612 [GRCh37]
Chr15:15q21.2		 uncertain significance
GRCh37/hg19 15q21.2(chr15:51708028-51874928)x3 copy number gain not provided [RCV000848895] Chr15:51708028..51874928 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.6416A>T (p.Glu2139Val) single nucleotide variant not specified [RCV003317913] Chr15:51480690 [GRCh38]
Chr15:51772887 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.1347T>A (p.Asp449Glu) single nucleotide variant Inborn genetic diseases [RCV003292215] Chr15:51537758 [GRCh38]
Chr15:51829955 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.4762C>T (p.Arg1588Ter) single nucleotide variant not provided [RCV003312304] Chr15:51495045 [GRCh38]
Chr15:51787242 [GRCh37]
Chr15:15q21.2		 likely pathogenic
NM_001378457.1(DMXL2):c.8077-22C>T single nucleotide variant Developmental and epileptic encephalopathy, 81 [RCV001658367]|Hearing loss, autosomal dominant 71 [RCV001658366]|Polyendocrine-polyneuropathy syndrome [RCV001658365]|not provided [RCV001641330] Chr15:51458649 [GRCh38]
Chr15:51750846 [GRCh37]
Chr15:15q21.2		 benign
NC_000015.9:g.(?_50999997)_(54025330_?)del deletion Spastic paraplegia [RCV003105621]|not provided [RCV003105622] Chr15:50999997..54025330 [GRCh37]
Chr15:15q21.2-21.3		 pathogenic|no classifications from unflagged records
NC_000015.9:g.(?_51745727)_(51745858_?)del deletion not provided [RCV003105623] Chr15:51745727..51745858 [GRCh37]
Chr15:15q21.2		 pathogenic
NC_000015.9:g.(?_51837760)_(51839625_?)del deletion not provided [RCV003105625] Chr15:51837760..51839625 [GRCh37]
Chr15:15q21.2		 uncertain significance
NC_000015.9:g.(?_50731271)_(54025330_?)dup duplication not provided [RCV003105626] Chr15:50731271..54025330 [GRCh37]
Chr15:15q21.2-21.3		 uncertain significance
NC_000015.9:g.(?_51745727)_(51914742_?)dup duplication not provided [RCV003105627] Chr15:51745727..51914742 [GRCh37]
Chr15:15q21.2		 uncertain significance
NC_000015.9:g.(?_51741181)_(51792448_?)dup duplication not provided [RCV003105629] Chr15:51741181..51792448 [GRCh37]
Chr15:15q21.2		 uncertain significance
NC_000015.9:g.(?_51741181)_(51787351_?)dup duplication not provided [RCV003105630] Chr15:51741181..51787351 [GRCh37]
Chr15:15q21.2		 uncertain significance
NC_000015.9:g.(?_51687012)_(51748586_?)dup duplication not provided [RCV003105631] Chr15:51687012..51748586 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.5017A>G (p.Met1673Val) single nucleotide variant not provided [RCV003105092] Chr15:51488582 [GRCh38]
Chr15:51780779 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.9114G>A (p.Thr3038=) single nucleotide variant not provided [RCV003104554] Chr15:51449047 [GRCh38]
Chr15:51741244 [GRCh37]
Chr15:15q21.2		 likely benign
NC_000015.9:g.(?_51755556)_(51773840_?)del deletion not provided [RCV003105624] Chr15:51755556..51773840 [GRCh37]
Chr15:15q21.2		 pathogenic
NC_000015.9:g.(?_51856302)_(51914742_?)dup duplication not provided [RCV003105628] Chr15:51856302..51914742 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.6833+11del deletion Developmental and epileptic encephalopathy, 81 [RCV001658345]|Hearing loss, autosomal dominant 71 [RCV001658344]|Polyendocrine-polyneuropathy syndrome [RCV001658343]|Polyendocrine-polyneuropathy syndrome [RCV002501977]|not provided [RCV001621695] Chr15:51478260 [GRCh38]
Chr15:51770457 [GRCh37]
Chr15:15q21.2		 benign
NM_001378457.1(DMXL2):c.7393-74_7393-73del deletion not provided [RCV001642048] Chr15:51466384..51466385 [GRCh38]
Chr15:51758581..51758582 [GRCh37]
Chr15:15q21.2		 benign
NM_001378457.1(DMXL2):c.8470C>T (p.Arg2824Cys) single nucleotide variant Inborn genetic diseases [RCV003294611]|not provided [RCV003107150] Chr15:51456122 [GRCh38]
Chr15:51748319 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.2029C>T (p.Pro677Ser) single nucleotide variant not provided [RCV003107282] Chr15:51536451 [GRCh38]
Chr15:51828648 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.2526+8C>T single nucleotide variant not provided [RCV003106786] Chr15:51517070 [GRCh38]
Chr15:51809267 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.1061C>G (p.Ala354Gly) single nucleotide variant not provided [RCV003318261] Chr15:51542377 [GRCh38]
Chr15:51834574 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.3862T>C (p.Ser1288Pro) single nucleotide variant Developmental and epileptic encephalopathy, 81 [RCV001661449]|Hearing loss, autosomal dominant 71 [RCV001661448]|Polyendocrine-polyneuropathy syndrome [RCV001661447]|not provided [RCV002073083] Chr15:51499362 [GRCh38]
Chr15:51791559 [GRCh37]
Chr15:15q21.2		 benign
NM_001378457.1(DMXL2):c.8198+51C>T single nucleotide variant not provided [RCV001638677] Chr15:51458455 [GRCh38]
Chr15:51750652 [GRCh37]
Chr15:15q21.2		 benign
NM_001378457.1(DMXL2):c.747-198G>A single nucleotide variant not provided [RCV001635977] Chr15:51545964 [GRCh38]
Chr15:51838161 [GRCh37]
Chr15:15q21.2		 benign
NM_001378457.1(DMXL2):c.746+107_746+114del deletion not provided [RCV001678544] Chr15:51547116..51547123 [GRCh38]
Chr15:51839313..51839320 [GRCh37]
Chr15:15q21.2		 benign
NM_001378457.1(DMXL2):c.8338-44T>C single nucleotide variant not provided [RCV001636241] Chr15:51456413 [GRCh38]
Chr15:51748610 [GRCh37]
Chr15:15q21.2		 benign
NM_001378457.1(DMXL2):c.8337+180G>C single nucleotide variant not provided [RCV001720508] Chr15:51457148 [GRCh38]
Chr15:51749345 [GRCh37]
Chr15:15q21.2		 benign
NM_001378457.1(DMXL2):c.93T>C (p.Tyr31=) single nucleotide variant not provided [RCV001693709] Chr15:51576176 [GRCh38]
Chr15:51868373 [GRCh37]
Chr15:15q21.2		 benign
NM_001378457.1(DMXL2):c.177A>G (p.Gln59=) single nucleotide variant not provided [RCV001613924] Chr15:51576092 [GRCh38]
Chr15:51868289 [GRCh37]
Chr15:15q21.2		 benign
NM_001378457.1(DMXL2):c.6756+180G>A single nucleotide variant not provided [RCV001614013] Chr15:51479768 [GRCh38]
Chr15:51771965 [GRCh37]
Chr15:15q21.2		 benign
NM_001378457.1(DMXL2):c.8198+94G>A single nucleotide variant not provided [RCV001716512] Chr15:51458412 [GRCh38]
Chr15:51750609 [GRCh37]
Chr15:15q21.2		 benign
NM_001378457.1(DMXL2):c.-36A>C single nucleotide variant Developmental and epileptic encephalopathy, 81 [RCV001658360]|Hearing loss, autosomal dominant 71 [RCV001658359]|Polyendocrine-polyneuropathy syndrome [RCV001658358]|not provided [RCV001636300] Chr15:51622581 [GRCh38]
Chr15:51914778 [GRCh37]
Chr15:15q21.2		 benign
NM_001378457.1(DMXL2):c.364+8G>A single nucleotide variant DMXL2-related condition [RCV003950638]|not provided [RCV000904851] Chr15:51565080 [GRCh38]
Chr15:51857277 [GRCh37]
Chr15:15q21.2		 benign|likely benign
NM_001378457.1(DMXL2):c.6965-7C>T single nucleotide variant not provided [RCV000885286] Chr15:51474599 [GRCh38]
Chr15:51766796 [GRCh37]
Chr15:15q21.2		 benign|likely benign
NM_001378457.1(DMXL2):c.6561A>G (p.Gln2187=) single nucleotide variant DMXL2-related condition [RCV003955901]|not provided [RCV000885287] Chr15:51480545 [GRCh38]
Chr15:51772742 [GRCh37]
Chr15:15q21.2		 benign|likely benign
NM_001378457.1(DMXL2):c.8910G>A (p.Leu2970=) single nucleotide variant not provided [RCV000907733] Chr15:51450186 [GRCh38]
Chr15:51742383 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.88-3_88-2insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT insertion not provided [RCV000953543] Chr15:51576183..51576184 [GRCh38]
Chr15:51868380..51868381 [GRCh37]
Chr15:15q21.2		 benign
NM_001378457.1(DMXL2):c.88-17_88-3dup duplication not provided [RCV000974581] Chr15:51576183..51576184 [GRCh38]
Chr15:51868380..51868381 [GRCh37]
Chr15:15q21.2		 benign
NM_001378457.1(DMXL2):c.7542A>G (p.Thr2514=) single nucleotide variant DMXL2-related condition [RCV003940780]|not provided [RCV000896686] Chr15:51465630 [GRCh38]
Chr15:51757827 [GRCh37]
Chr15:15q21.2		 benign|likely benign
NM_001378457.1(DMXL2):c.4767G>A (p.Val1589=) single nucleotide variant not provided [RCV000900545] Chr15:51495040 [GRCh38]
Chr15:51787237 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.5052-4C>T single nucleotide variant not provided [RCV000975256] Chr15:51488123 [GRCh38]
Chr15:51780320 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.6166A>C (p.Arg2056=) single nucleotide variant DMXL2-related condition [RCV003957961]|not provided [RCV000891991] Chr15:51480940 [GRCh38]
Chr15:51773137 [GRCh37]
Chr15:15q21.2		 benign|likely benign
NM_001378457.1(DMXL2):c.1731G>A (p.Thr577=) single nucleotide variant not provided [RCV000972313] Chr15:51536749 [GRCh38]
Chr15:51828946 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.1278A>G (p.Ala426=) single nucleotide variant not provided [RCV000925429] Chr15:51538280 [GRCh38]
Chr15:51830477 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.9096C>T (p.Ser3032=) single nucleotide variant not provided [RCV000919753] Chr15:51449065 [GRCh38]
Chr15:51741262 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.746+10A>G single nucleotide variant not provided [RCV000917792] Chr15:51547220 [GRCh38]
Chr15:51839417 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.7809-6del deletion DMXL2-related condition [RCV003920712]|Polyendocrine-polyneuropathy syndrome [RCV002507575]|not provided [RCV000888360] Chr15:51463502 [GRCh38]
Chr15:51755699 [GRCh37]
Chr15:15q21.2		 benign|likely benign
NM_001378457.1(DMXL2):c.3252G>A (p.Val1084=) single nucleotide variant not provided [RCV000978452] Chr15:51499972 [GRCh38]
Chr15:51792169 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.2644+7T>C single nucleotide variant not provided [RCV000899339] Chr15:51514435 [GRCh38]
Chr15:51806632 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.5448G>T (p.Leu1816=) single nucleotide variant not provided [RCV000932173] Chr15:51486107 [GRCh38]
Chr15:51778304 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.5136T>G (p.Ala1712=) single nucleotide variant DMXL2-related condition [RCV003922852]|not provided [RCV000895420] Chr15:51488035 [GRCh38]
Chr15:51780232 [GRCh37]
Chr15:15q21.2		 benign
NM_001378457.1(DMXL2):c.8169C>T (p.Ile2723=) single nucleotide variant DMXL2-related condition [RCV003943228]|not provided [RCV000973529] Chr15:51458535 [GRCh38]
Chr15:51750732 [GRCh37]
Chr15:15q21.2		 benign
NM_001378457.1(DMXL2):c.430G>C (p.Glu144Gln) single nucleotide variant not provided [RCV000888583] Chr15:51564195 [GRCh38]
Chr15:51856392 [GRCh37]
Chr15:15q21.2		 benign
NM_001378457.1(DMXL2):c.7454A>G (p.Asp2485Gly) single nucleotide variant not provided [RCV000965297] Chr15:51466250 [GRCh38]
Chr15:51758447 [GRCh37]
Chr15:15q21.2		 benign
NM_001378457.1(DMXL2):c.6247G>A (p.Ala2083Thr) single nucleotide variant Hearing loss, autosomal dominant 71 [RCV001225312]|not provided [RCV003770262] Chr15:51480859 [GRCh38]
Chr15:51773056 [GRCh37]
Chr15:15q21.2		 likely benign|uncertain significance
NM_001378457.1(DMXL2):c.3935T>C (p.Val1312Ala) single nucleotide variant not provided [RCV000891117] Chr15:51499289 [GRCh38]
Chr15:51791486 [GRCh37]
Chr15:15q21.2		 benign
NM_001378457.1(DMXL2):c.2526+8C>A single nucleotide variant not provided [RCV000913218] Chr15:51517070 [GRCh38]
Chr15:51809267 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.7213+10G>A single nucleotide variant not provided [RCV000911087] Chr15:51474334 [GRCh38]
Chr15:51766531 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.4410G>A (p.Glu1470=) single nucleotide variant not provided [RCV000889242] Chr15:51498814 [GRCh38]
Chr15:51791011 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.9174A>G (p.Leu3058=) single nucleotide variant not provided [RCV000935905] Chr15:51448987 [GRCh38]
Chr15:51741184 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.7071G>A (p.Leu2357=) single nucleotide variant DMXL2-related condition [RCV003978316]|not provided [RCV000957937] Chr15:51474486 [GRCh38]
Chr15:51766683 [GRCh37]
Chr15:15q21.2		 benign
NM_001378457.1(DMXL2):c.3887A>G (p.Gln1296Arg) single nucleotide variant not provided [RCV000957938] Chr15:51499337 [GRCh38]
Chr15:51791534 [GRCh37]
Chr15:15q21.2		 benign
NM_001378457.1(DMXL2):c.4442A>G (p.Asp1481Gly) single nucleotide variant not provided [RCV000958205] Chr15:51498782 [GRCh38]
Chr15:51790979 [GRCh37]
Chr15:15q21.2		 benign
NM_001378457.1(DMXL2):c.2055A>C (p.Ser685=) single nucleotide variant not provided [RCV000958206] Chr15:51536425 [GRCh38]
Chr15:51828622 [GRCh37]
Chr15:15q21.2		 benign|likely benign
NM_001378457.1(DMXL2):c.8034C>T (p.Ile2678=) single nucleotide variant not provided [RCV000934101] Chr15:51458751 [GRCh38]
Chr15:51750948 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.6615A>C (p.Leu2205=) single nucleotide variant not provided [RCV000935298] Chr15:51480089 [GRCh38]
Chr15:51772286 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.6984T>C (p.Asn2328=) single nucleotide variant DMXL2-related condition [RCV003903107]|not provided [RCV000934219] Chr15:51474573 [GRCh38]
Chr15:51766770 [GRCh37]
Chr15:15q21.2		 benign|likely benign
NM_001378457.1(DMXL2):c.8967+9G>C single nucleotide variant not provided [RCV000911086] Chr15:51450120 [GRCh38]
Chr15:51742317 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.5976T>A (p.Asp1992Glu) single nucleotide variant DMXL2-related condition [RCV003920745]|not provided [RCV000890186] Chr15:51481130 [GRCh38]
Chr15:51773327 [GRCh37]
Chr15:15q21.2		 benign
NM_001378457.1(DMXL2):c.7809-5A>G single nucleotide variant not provided [RCV001664979] Chr15:51463501 [GRCh38]
Chr15:51755698 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.4908A>G (p.Gly1636=) single nucleotide variant Developmental and epileptic encephalopathy, 81 [RCV001661446]|Hearing loss, autosomal dominant 71 [RCV001661445]|Polyendocrine-polyneuropathy syndrome [RCV001661444]|not provided [RCV001676072] Chr15:51491623 [GRCh38]
Chr15:51783820 [GRCh37]
Chr15:15q21.2		 benign
NM_001378457.1(DMXL2):c.27A>G (p.Gly9=) single nucleotide variant Developmental and epileptic encephalopathy, 81 [RCV001658326]|Hearing loss, autosomal dominant 71 [RCV001658325]|Polyendocrine-polyneuropathy syndrome [RCV001658324]|not provided [RCV001611635] Chr15:51622519 [GRCh38]
Chr15:51914716 [GRCh37]
Chr15:15q21.2		 benign
NM_001378457.1(DMXL2):c.*125C>T single nucleotide variant not provided [RCV001693479] Chr15:51448859 [GRCh38]
Chr15:51741056 [GRCh37]
Chr15:15q21.2		 benign
NM_001378457.1(DMXL2):c.6965-138_6965-135del deletion not provided [RCV001678280] Chr15:51474727..51474730 [GRCh38]
Chr15:51766924..51766927 [GRCh37]
Chr15:15q21.2		 benign
NM_001378457.1(DMXL2):c.2656C>G (p.Pro886Ala) single nucleotide variant Inborn genetic diseases [RCV003242537] Chr15:51507242 [GRCh38]
Chr15:51799439 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.4647T>G (p.Asp1549Glu) single nucleotide variant not provided [RCV003106550] Chr15:51498577 [GRCh38]
Chr15:51790774 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.2314+188C>G single nucleotide variant not provided [RCV001637410] Chr15:51535978 [GRCh38]
Chr15:51828175 [GRCh37]
Chr15:15q21.2		 benign
NM_001378457.1(DMXL2):c.8696+137_8696+138del deletion not provided [RCV001710565] Chr15:51453412..51453413 [GRCh38]
Chr15:51745609..51745610 [GRCh37]
Chr15:15q21.2		 benign
NM_001378457.1(DMXL2):c.500+131del deletion not provided [RCV001656797] Chr15:51563994 [GRCh38]
Chr15:51856191 [GRCh37]
Chr15:15q21.2		 benign
NC_000015.10:g.51622992C>T single nucleotide variant not provided [RCV001677371] Chr15:51622992 [GRCh38]
Chr15:51915189 [GRCh37]
Chr15:15q21.2		 benign
NM_001378457.1(DMXL2):c.8338-17A>T single nucleotide variant not provided [RCV001599141] Chr15:51456386 [GRCh38]
Chr15:51748583 [GRCh37]
Chr15:15q21.2		 benign
GRCh37/hg19 15q21.2(chr15:51630691-51891698)x3 copy number gain not provided [RCV001006688] Chr15:51630691..51891698 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.81C>T (p.Pro27=) single nucleotide variant Developmental and epileptic encephalopathy, 81 [RCV001661452]|Hearing loss, autosomal dominant 71 [RCV001661451]|Polyendocrine-polyneuropathy syndrome [RCV001661450]|not provided [RCV001707916] Chr15:51622465 [GRCh38]
Chr15:51914662 [GRCh37]
Chr15:15q21.2		 benign
NM_001378457.1(DMXL2):c.8763C>T (p.His2921=) single nucleotide variant not provided [RCV001532752] Chr15:51450333 [GRCh38]
Chr15:51742530 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.8526+123T>G single nucleotide variant not provided [RCV001647890] Chr15:51455943 [GRCh38]
Chr15:51748140 [GRCh37]
Chr15:15q21.2		 benign
NM_001378457.1(DMXL2):c.8749+124A>G single nucleotide variant not provided [RCV001695269] Chr15:51451521 [GRCh38]
Chr15:51743718 [GRCh37]
Chr15:15q21.2		 benign
NC_000015.10:g.51622937C>T single nucleotide variant not provided [RCV001694482] Chr15:51622937 [GRCh38]
Chr15:51915134 [GRCh37]
Chr15:15q21.2		 benign
NM_001378457.1(DMXL2):c.8199-63T>G single nucleotide variant not provided [RCV001680755] Chr15:51457529 [GRCh38]
Chr15:51749726 [GRCh37]
Chr15:15q21.2		 benign
NM_001378457.1(DMXL2):c.2823C>T (p.Asn941=) single nucleotide variant Developmental and epileptic encephalopathy, 81 [RCV001658257]|Hearing loss, autosomal dominant 71 [RCV001658256]|Polyendocrine-polyneuropathy syndrome [RCV001658255]|not provided [RCV001534250] Chr15:51502975 [GRCh38]
Chr15:51795172 [GRCh37]
Chr15:15q21.2		 benign
NM_001378457.1(DMXL2):c.5051+23G>A single nucleotide variant Developmental and epileptic encephalopathy, 81 [RCV001661443]|Hearing loss, autosomal dominant 71 [RCV001661442]|Polyendocrine-polyneuropathy syndrome [RCV001661441]|not provided [RCV001685560] Chr15:51488525 [GRCh38]
Chr15:51780722 [GRCh37]
Chr15:15q21.2		 benign
NM_001378457.1(DMXL2):c.1346-39A>G single nucleotide variant Developmental and epileptic encephalopathy, 81 [RCV001658341]|Hearing loss, autosomal dominant 71 [RCV001658340]|Polyendocrine-polyneuropathy syndrome [RCV001658339]|not provided [RCV001619072] Chr15:51537798 [GRCh38]
Chr15:51829995 [GRCh37]
Chr15:15q21.2		 benign
NM_001378457.1(DMXL2):c.8526+117A>G single nucleotide variant not provided [RCV001694614] Chr15:51455949 [GRCh38]
Chr15:51748146 [GRCh37]
Chr15:15q21.2		 benign
NM_001378457.1(DMXL2):c.8199-99A>C single nucleotide variant not provided [RCV001679057] Chr15:51457565 [GRCh38]
Chr15:51749762 [GRCh37]
Chr15:15q21.2		 benign
NM_001378457.1(DMXL2):c.7606+142C>T single nucleotide variant not provided [RCV001679332] Chr15:51465424 [GRCh38]
Chr15:51757621 [GRCh37]
Chr15:15q21.2		 benign
NM_001378457.1(DMXL2):c.4673-248T>C single nucleotide variant not provided [RCV001680552] Chr15:51495382 [GRCh38]
Chr15:51787579 [GRCh37]
Chr15:15q21.2		 benign
NM_001378457.1(DMXL2):c.1490C>T (p.Thr497Met) single nucleotide variant Developmental and epileptic encephalopathy, 81 [RCV001658381]|Hearing loss, autosomal dominant 71 [RCV001658380]|Polyendocrine-polyneuropathy syndrome [RCV001658379]|not provided [RCV001652254] Chr15:51537615 [GRCh38]
Chr15:51829812 [GRCh37]
Chr15:15q21.2		 benign
GRCh37/hg19 15q21.2-21.3(chr15:51792729-55134365)x1 copy number loss not provided [RCV001259215] Chr15:51792729..55134365 [GRCh37]
Chr15:15q21.2-21.3		 likely pathogenic
NM_001378457.1(DMXL2):c.5020A>C (p.Lys1674Gln) single nucleotide variant Polyendocrine-polyneuropathy syndrome [RCV001331789]|Spasticity [RCV002284217]|not provided [RCV001859285] Chr15:51488579 [GRCh38]
Chr15:51780776 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.8794C>A (p.Pro2932Thr) single nucleotide variant Polyendocrine-polyneuropathy syndrome [RCV001335751] Chr15:51450302 [GRCh38]
Chr15:51742499 [GRCh37]
Chr15:15q21.2		 uncertain significance
NC_000015.9:g.(?_32964879)_(91358519_?)dup duplication Bloom syndrome [RCV001343104]|Familial colorectal cancer [RCV001325176] Chr15:32964879..91358519 [GRCh37]
Chr15:15q13.3-26.1		 uncertain significance
GRCh37/hg19 15q21.1-21.3(chr15:48744917-53851050)x1 copy number loss not provided [RCV001270659] Chr15:48744917..53851050 [GRCh37]
Chr15:15q21.1-21.3		 pathogenic
NM_001378457.1(DMXL2):c.2912T>C (p.Ile971Thr) single nucleotide variant Hearing impairment [RCV001375446] Chr15:51502886 [GRCh38]
Chr15:51795083 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.918G>T (p.Gln306His) single nucleotide variant Hearing loss, autosomal dominant 71 [RCV001376159] Chr15:51545595 [GRCh38]
Chr15:51837792 [GRCh37]
Chr15:15q21.2		 pathogenic
NM_001378457.1(DMXL2):c.8527-15_8527-11dup duplication Hearing loss, autosomal dominant 71 [RCV001335750] Chr15:51455238..51455239 [GRCh38]
Chr15:51747435..51747436 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.8527-181A>C single nucleotide variant not provided [RCV001666286] Chr15:51455409 [GRCh38]
Chr15:51747606 [GRCh37]
Chr15:15q21.2		 benign
NM_001378457.1(DMXL2):c.4784-37C>G single nucleotide variant not provided [RCV001681537] Chr15:51491784 [GRCh38]
Chr15:51783981 [GRCh37]
Chr15:15q21.2		 benign
NM_001378457.1(DMXL2):c.7520+35del deletion Developmental and epileptic encephalopathy, 81 [RCV001661440]|Hearing loss, autosomal dominant 71 [RCV001661439]|Polyendocrine-polyneuropathy syndrome [RCV001661438]|not provided [RCV001673236] Chr15:51466149 [GRCh38]
Chr15:51758346 [GRCh37]
Chr15:15q21.2		 benign
NM_001378457.1(DMXL2):c.7213+62T>C single nucleotide variant not provided [RCV001687159] Chr15:51474282 [GRCh38]
Chr15:51766479 [GRCh37]
Chr15:15q21.2		 benign
NM_001378457.1(DMXL2):c.7392+171G>C single nucleotide variant not provided [RCV001693967] Chr15:51471052 [GRCh38]
Chr15:51763249 [GRCh37]
Chr15:15q21.2		 benign
NM_001378457.1(DMXL2):c.7990-123GCT[6] microsatellite not provided [RCV001665666] Chr15:51458895..51458900 [GRCh38]
Chr15:51751092..51751097 [GRCh37]
Chr15:15q21.2		 benign
NM_001378457.1(DMXL2):c.7633A>G (p.Ile2545Val) single nucleotide variant not provided [RCV003108427] Chr15:51464850 [GRCh38]
Chr15:51757047 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.299A>T (p.Gln100Leu) single nucleotide variant not provided [RCV001755052] Chr15:51565153 [GRCh38]
Chr15:51857350 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.1922C>G (p.Ser641Cys) single nucleotide variant not provided [RCV001761213] Chr15:51536558 [GRCh38]
Chr15:51828755 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.7130T>G (p.Leu2377Ter) single nucleotide variant not provided [RCV001754489] Chr15:51474427 [GRCh38]
Chr15:51766624 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.1845_1853dup (p.Ile617_Asp618insGluHisIle) duplication not provided [RCV001768728] Chr15:51536626..51536627 [GRCh38]
Chr15:51828823..51828824 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.5286T>G (p.Phe1762Leu) single nucleotide variant not provided [RCV001816156] Chr15:51486269 [GRCh38]
Chr15:51778466 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.3719C>T (p.Ser1240Phe) single nucleotide variant not provided [RCV001863523] Chr15:51499505 [GRCh38]
Chr15:51791702 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.90A>G (p.Ala30=) single nucleotide variant not provided [RCV001988118] Chr15:51576179 [GRCh38]
Chr15:51868376 [GRCh37]
Chr15:15q21.2		 likely benign|uncertain significance
NM_001378457.1(DMXL2):c.3922A>G (p.Arg1308Gly) single nucleotide variant not provided [RCV001948866] Chr15:51499302 [GRCh38]
Chr15:51791499 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.4436C>T (p.Thr1479Met) single nucleotide variant not provided [RCV001914875] Chr15:51498788 [GRCh38]
Chr15:51790985 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.8486C>G (p.Ala2829Gly) single nucleotide variant not provided [RCV001988628] Chr15:51456106 [GRCh38]
Chr15:51748303 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.67G>A (p.Val23Ile) single nucleotide variant not provided [RCV001945268] Chr15:51622479 [GRCh38]
Chr15:51914676 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.8885C>T (p.Ala2962Val) single nucleotide variant not provided [RCV001892466] Chr15:51450211 [GRCh38]
Chr15:51742408 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.768G>C (p.Leu256Phe) single nucleotide variant not provided [RCV001895060] Chr15:51545745 [GRCh38]
Chr15:51837942 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.7360G>A (p.Glu2454Lys) single nucleotide variant Inborn genetic diseases [RCV002562846]|not provided [RCV001969990] Chr15:51471255 [GRCh38]
Chr15:51763452 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.3013A>G (p.Ile1005Val) single nucleotide variant not provided [RCV002002045] Chr15:51500211 [GRCh38]
Chr15:51792408 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.2824G>T (p.Val942Leu) single nucleotide variant not provided [RCV001988180] Chr15:51502974 [GRCh38]
Chr15:51795171 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.3103C>A (p.Pro1035Thr) single nucleotide variant not provided [RCV001971300] Chr15:51500121 [GRCh38]
Chr15:51792318 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.3257A>G (p.Tyr1086Cys) single nucleotide variant not provided [RCV001872477] Chr15:51499967 [GRCh38]
Chr15:51792164 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.225A>G (p.Ser75=) single nucleotide variant not provided [RCV001988043] Chr15:51568547 [GRCh38]
Chr15:51860744 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.1290T>G (p.Asp430Glu) single nucleotide variant Inborn genetic diseases [RCV002547952]|not provided [RCV001863924] Chr15:51538268 [GRCh38]
Chr15:51830465 [GRCh37]
Chr15:15q21.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_001378457.1(DMXL2):c.8199-3C>T single nucleotide variant not provided [RCV001894768] Chr15:51457469 [GRCh38]
Chr15:51749666 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.2591A>C (p.His864Pro) single nucleotide variant not provided [RCV001983142] Chr15:51514495 [GRCh38]
Chr15:51806692 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.6953C>T (p.Ala2318Val) single nucleotide variant not provided [RCV001967908] Chr15:51476600 [GRCh38]
Chr15:51768797 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.4380A>G (p.Thr1460=) single nucleotide variant DMXL2-related condition [RCV003976262]|not provided [RCV001945414] Chr15:51498844 [GRCh38]
Chr15:51791041 [GRCh37]
Chr15:15q21.2		 likely benign|uncertain significance
NM_001378457.1(DMXL2):c.2603T>C (p.Met868Thr) single nucleotide variant not provided [RCV002003562] Chr15:51514483 [GRCh38]
Chr15:51806680 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.619A>G (p.Ile207Val) single nucleotide variant not provided [RCV001890296] Chr15:51547357 [GRCh38]
Chr15:51839554 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.1427C>G (p.Thr476Ser) single nucleotide variant Amenorrhea [RCV001849762]|not provided [RCV002034776] Chr15:51537678 [GRCh38]
Chr15:51829875 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.3263A>G (p.Gln1088Arg) single nucleotide variant not provided [RCV001912191] Chr15:51499961 [GRCh38]
Chr15:51792158 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.8195A>G (p.Lys2732Arg) single nucleotide variant not provided [RCV001967549] Chr15:51458509 [GRCh38]
Chr15:51750706 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.7990-9dup duplication not provided [RCV001909043] Chr15:51458803..51458804 [GRCh38]
Chr15:51751000..51751001 [GRCh37]
Chr15:15q21.2		 likely benign|uncertain significance
NM_001378457.1(DMXL2):c.6889A>G (p.Ser2297Gly) single nucleotide variant not provided [RCV001910919] Chr15:51476664 [GRCh38]
Chr15:51768861 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.5159G>A (p.Arg1720His) single nucleotide variant not provided [RCV002003572] Chr15:51488012 [GRCh38]
Chr15:51780209 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.4135G>A (p.Val1379Ile) single nucleotide variant not provided [RCV001985844] Chr15:51499089 [GRCh38]
Chr15:51791286 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.2096T>C (p.Ile699Thr) single nucleotide variant Inborn genetic diseases [RCV002548207]|not provided [RCV002022965] Chr15:51536384 [GRCh38]
Chr15:51828581 [GRCh37]
Chr15:15q21.2		 likely benign|uncertain significance
NM_001378457.1(DMXL2):c.212G>C (p.Arg71Thr) single nucleotide variant not provided [RCV002007093] Chr15:51576057 [GRCh38]
Chr15:51868254 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.4213A>G (p.Thr1405Ala) single nucleotide variant not provided [RCV001909880] Chr15:51499011 [GRCh38]
Chr15:51791208 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.7312C>T (p.Pro2438Ser) single nucleotide variant Developmental and epileptic encephalopathy, 81 [RCV001839123]|Inborn genetic diseases [RCV002545219]|not provided [RCV002542823] Chr15:51471303 [GRCh38]
Chr15:51763500 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.358C>T (p.Pro120Ser) single nucleotide variant Developmental and epileptic encephalopathy, 81 [RCV001839124] Chr15:51565094 [GRCh38]
Chr15:51857291 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.6040G>C (p.Ala2014Pro) single nucleotide variant not provided [RCV002004362] Chr15:51481066 [GRCh38]
Chr15:51773263 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.7103A>T (p.Glu2368Val) single nucleotide variant not provided [RCV001966866] Chr15:51474454 [GRCh38]
Chr15:51766651 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.5135C>G (p.Ala1712Gly) single nucleotide variant not provided [RCV001967505] Chr15:51488036 [GRCh38]
Chr15:51780233 [GRCh37]
Chr15:15q21.2		 uncertain significance
GRCh37/hg19 15q21.1-21.3(chr15:47635238-56509908) copy number loss not specified [RCV002052472] Chr15:47635238..56509908 [GRCh37]
Chr15:15q21.1-21.3		 pathogenic
NM_001378457.1(DMXL2):c.2115A>G (p.Gln705=) single nucleotide variant not provided [RCV001949035] Chr15:51536365 [GRCh38]
Chr15:51828562 [GRCh37]
Chr15:15q21.2		 likely benign|uncertain significance
NM_001378457.1(DMXL2):c.3260A>C (p.Lys1087Thr) single nucleotide variant not provided [RCV002040929] Chr15:51499964 [GRCh38]
Chr15:51792161 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.8746C>T (p.His2916Tyr) single nucleotide variant not provided [RCV001967030] Chr15:51451648 [GRCh38]
Chr15:51743845 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.1687A>G (p.Met563Val) single nucleotide variant Amenorrhea [RCV001849761]|not provided [RCV002545280] Chr15:51536793 [GRCh38]
Chr15:51828990 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.5918C>T (p.Pro1973Leu) single nucleotide variant not provided [RCV001968990] Chr15:51481188 [GRCh38]
Chr15:51773385 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.1663G>A (p.Ala555Thr) single nucleotide variant not provided [RCV001892707] Chr15:51536817 [GRCh38]
Chr15:51829014 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.6019G>A (p.Asp2007Asn) single nucleotide variant not provided [RCV001911327] Chr15:51481087 [GRCh38]
Chr15:51773284 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.6955C>T (p.Gln2319Ter) single nucleotide variant not provided [RCV002007196] Chr15:51476598 [GRCh38]
Chr15:51768795 [GRCh37]
Chr15:15q21.2		 pathogenic
NM_001378457.1(DMXL2):c.3108G>T (p.Glu1036Asp) single nucleotide variant Polyendocrine-polyneuropathy syndrome [RCV002506986]|not provided [RCV001893435] Chr15:51500116 [GRCh38]
Chr15:51792313 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.1235G>A (p.Arg412Gln) single nucleotide variant not provided [RCV001967630] Chr15:51538323 [GRCh38]
Chr15:51830520 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.3949A>G (p.Ile1317Val) single nucleotide variant Inborn genetic diseases [RCV002545565]|not provided [RCV002014235] Chr15:51499275 [GRCh38]
Chr15:51791472 [GRCh37]
Chr15:15q21.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001378457.1(DMXL2):c.2764_2764+3del deletion not provided [RCV002000783] Chr15:51507131..51507134 [GRCh38]
Chr15:51799328..51799331 [GRCh37]
Chr15:15q21.2		 likely pathogenic
NM_001378457.1(DMXL2):c.8338-6T>C single nucleotide variant not provided [RCV001978141] Chr15:51456375 [GRCh38]
Chr15:51748572 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.1787C>G (p.Ser596Cys) single nucleotide variant DMXL2-related condition [RCV003407972]|Inborn genetic diseases [RCV002560723]|not provided [RCV001940845] Chr15:51536693 [GRCh38]
Chr15:51828890 [GRCh37]
Chr15:15q21.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_001378457.1(DMXL2):c.457G>T (p.Val153Phe) single nucleotide variant not provided [RCV001887718] Chr15:51564168 [GRCh38]
Chr15:51856365 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.2864T>C (p.Met955Thr) single nucleotide variant not provided [RCV001951925] Chr15:51502934 [GRCh38]
Chr15:51795131 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.8876C>T (p.Thr2959Met) single nucleotide variant Inborn genetic diseases [RCV003339790]|not provided [RCV001906022] Chr15:51450220 [GRCh38]
Chr15:51742417 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.1730C>T (p.Thr577Met) single nucleotide variant Inborn genetic diseases [RCV002552130]|not provided [RCV001877679] Chr15:51536750 [GRCh38]
Chr15:51828947 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.213+4A>T single nucleotide variant Inborn genetic diseases [RCV002563534]|not provided [RCV001997231] Chr15:51576052 [GRCh38]
Chr15:51868249 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.7246C>T (p.His2416Tyr) single nucleotide variant not provided [RCV002000481] Chr15:51471369 [GRCh38]
Chr15:51763566 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.3104C>G (p.Pro1035Arg) single nucleotide variant not provided [RCV001963416] Chr15:51500120 [GRCh38]
Chr15:51792317 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.7717A>G (p.Ile2573Val) single nucleotide variant not provided [RCV001876507] Chr15:51464766 [GRCh38]
Chr15:51756963 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.7565A>G (p.Asn2522Ser) single nucleotide variant not provided [RCV001887305] Chr15:51465607 [GRCh38]
Chr15:51757804 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.6430C>T (p.Arg2144Ter) single nucleotide variant not provided [RCV002035445] Chr15:51480676 [GRCh38]
Chr15:51772873 [GRCh37]
Chr15:15q21.2		 pathogenic
NM_001378457.1(DMXL2):c.3932T>G (p.Val1311Gly) single nucleotide variant not provided [RCV001916925] Chr15:51499292 [GRCh38]
Chr15:51791489 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.1993T>G (p.Leu665Val) single nucleotide variant Inborn genetic diseases [RCV002550361]|not provided [RCV001942828] Chr15:51536487 [GRCh38]
Chr15:51828684 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.7178T>G (p.Val2393Gly) single nucleotide variant not provided [RCV001887836] Chr15:51474379 [GRCh38]
Chr15:51766576 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.3102C>A (p.Asn1034Lys) single nucleotide variant Inborn genetic diseases [RCV003170127]|not provided [RCV002012161] Chr15:51500122 [GRCh38]
Chr15:51792319 [GRCh37]
Chr15:15q21.2		 benign|uncertain significance
NM_001378457.1(DMXL2):c.1895C>G (p.Ser632Cys) single nucleotide variant not provided [RCV001864847] Chr15:51536585 [GRCh38]
Chr15:51828782 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.3667A>C (p.Lys1223Gln) single nucleotide variant Inborn genetic diseases [RCV002552785]|not provided [RCV001883495] Chr15:51499557 [GRCh38]
Chr15:51791754 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.1682A>G (p.Asn561Ser) single nucleotide variant Inborn genetic diseases [RCV002555406]|not provided [RCV001906637]|not specified [RCV003479365] Chr15:51536798 [GRCh38]
Chr15:51828995 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.3896C>T (p.Ser1299Leu) single nucleotide variant Inborn genetic diseases [RCV002608025]|not provided [RCV002001421] Chr15:51499328 [GRCh38]
Chr15:51791525 [GRCh37]
Chr15:15q21.2		 likely benign|uncertain significance
NM_001378457.1(DMXL2):c.7840C>G (p.Arg2614Gly) single nucleotide variant not provided [RCV001887538] Chr15:51463465 [GRCh38]
Chr15:51755662 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.3982A>G (p.Ile1328Val) single nucleotide variant not provided [RCV001962741] Chr15:51499242 [GRCh38]
Chr15:51791439 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.4995T>G (p.Asp1665Glu) single nucleotide variant not provided [RCV001925796] Chr15:51488604 [GRCh38]
Chr15:51780801 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.4015G>T (p.Val1339Leu) single nucleotide variant not provided [RCV001936269] Chr15:51499209 [GRCh38]
Chr15:51791406 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.1339G>A (p.Asp447Asn) single nucleotide variant Inborn genetic diseases [RCV002555291]|not provided [RCV001939783] Chr15:51538219 [GRCh38]
Chr15:51830416 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.8605A>G (p.Ser2869Gly) single nucleotide variant not provided [RCV001962330] Chr15:51453641 [GRCh38]
Chr15:51745838 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.2255A>G (p.His752Arg) single nucleotide variant not provided [RCV002000314] Chr15:51536225 [GRCh38]
Chr15:51828422 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.812C>G (p.Thr271Ser) single nucleotide variant not provided [RCV001955628] Chr15:51545701 [GRCh38]
Chr15:51837898 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.7500C>A (p.His2500Gln) single nucleotide variant not provided [RCV001989667] Chr15:51466204 [GRCh38]
Chr15:51758401 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.6497G>A (p.Gly2166Glu) single nucleotide variant Inborn genetic diseases [RCV002562107]|not provided [RCV001933949] Chr15:51480609 [GRCh38]
Chr15:51772806 [GRCh37]
Chr15:15q21.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_001378457.1(DMXL2):c.6014A>G (p.Glu2005Gly) single nucleotide variant not provided [RCV002029474] Chr15:51481092 [GRCh38]
Chr15:51773289 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.4966T>G (p.Ser1656Ala) single nucleotide variant not provided [RCV001882320] Chr15:51488633 [GRCh38]
Chr15:51780830 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.9163C>T (p.Leu3055Phe) single nucleotide variant not provided [RCV001931380] Chr15:51448998 [GRCh38]
Chr15:51741195 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.4156G>C (p.Asp1386His) single nucleotide variant not provided [RCV002028434] Chr15:51499068 [GRCh38]
Chr15:51791265 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.7543A>G (p.Met2515Val) single nucleotide variant Inborn genetic diseases [RCV002571313]|Polyendocrine-polyneuropathy syndrome [RCV002507728]|not provided [RCV001975701] Chr15:51465629 [GRCh38]
Chr15:51757826 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.6692A>G (p.His2231Arg) single nucleotide variant not provided [RCV001898207] Chr15:51480012 [GRCh38]
Chr15:51772209 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.773C>G (p.Thr258Ser) single nucleotide variant not provided [RCV001877832] Chr15:51545740 [GRCh38]
Chr15:51837937 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.2608A>G (p.Lys870Glu) single nucleotide variant not provided [RCV002049674] Chr15:51514478 [GRCh38]
Chr15:51806675 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.6946T>C (p.Ser2316Pro) single nucleotide variant DMXL2-related condition [RCV003923379]|Inborn genetic diseases [RCV002562146]|not provided [RCV001957785] Chr15:51476607 [GRCh38]
Chr15:51768804 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.110T>C (p.Ile37Thr) single nucleotide variant not provided [RCV001899565] Chr15:51576159 [GRCh38]
Chr15:51868356 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.909C>A (p.Asp303Glu) single nucleotide variant not provided [RCV001866577] Chr15:51545604 [GRCh38]
Chr15:51837801 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.8349G>T (p.Arg2783Ser) single nucleotide variant not provided [RCV002015229] Chr15:51456358 [GRCh38]
Chr15:51748555 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.5333G>A (p.Gly1778Asp) single nucleotide variant not provided [RCV002033072] Chr15:51486222 [GRCh38]
Chr15:51778419 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.2881A>G (p.Ile961Val) single nucleotide variant not provided [RCV001952396] Chr15:51502917 [GRCh38]
Chr15:51795114 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.6275C>T (p.Ser2092Leu) single nucleotide variant not provided [RCV001933110] Chr15:51480831 [GRCh38]
Chr15:51773028 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.8836G>A (p.Val2946Ile) single nucleotide variant Inborn genetic diseases [RCV002553674]|not provided [RCV001920089] Chr15:51450260 [GRCh38]
Chr15:51742457 [GRCh37]
Chr15:15q21.2		 likely benign|uncertain significance
NM_001378457.1(DMXL2):c.8697-6T>C single nucleotide variant not provided [RCV001936181] Chr15:51451703 [GRCh38]
Chr15:51743900 [GRCh37]
Chr15:15q21.2		 likely benign|uncertain significance
NM_001378457.1(DMXL2):c.2806G>A (p.Val936Ile) single nucleotide variant Inborn genetic diseases [RCV002625353]|not provided [RCV001989318] Chr15:51502992 [GRCh38]
Chr15:51795189 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.1075C>A (p.His359Asn) single nucleotide variant not provided [RCV001882041] Chr15:51542363 [GRCh38]
Chr15:51834560 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.4931C>T (p.Thr1644Met) single nucleotide variant not provided [RCV001900209] Chr15:51491600 [GRCh38]
Chr15:51783797 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.7148C>G (p.Ala2383Gly) single nucleotide variant Developmental and epileptic encephalopathy, 81 [RCV003147707]|not provided [RCV001940772] Chr15:51474409 [GRCh38]
Chr15:51766606 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.3200T>C (p.Ile1067Thr) single nucleotide variant not provided [RCV002028109] Chr15:51500024 [GRCh38]
Chr15:51792221 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.3635C>T (p.Ala1212Val) single nucleotide variant not provided [RCV001907518] Chr15:51499589 [GRCh38]
Chr15:51791786 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.8446C>T (p.Arg2816Trp) single nucleotide variant not provided [RCV002028192] Chr15:51456146 [GRCh38]
Chr15:51748343 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.7112G>A (p.Arg2371Gln) single nucleotide variant not provided [RCV001955642] Chr15:51474445 [GRCh38]
Chr15:51766642 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.5836G>A (p.Gly1946Arg) single nucleotide variant Inborn genetic diseases [RCV002563467]|not provided [RCV001958508] Chr15:51481270 [GRCh38]
Chr15:51773467 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.7484C>G (p.Thr2495Arg) single nucleotide variant not provided [RCV001924491] Chr15:51466220 [GRCh38]
Chr15:51758417 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.7703C>A (p.Pro2568Gln) single nucleotide variant not provided [RCV001977683] Chr15:51464780 [GRCh38]
Chr15:51756977 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.1537C>T (p.His513Tyr) single nucleotide variant not provided [RCV001939743] Chr15:51537568 [GRCh38]
Chr15:51829765 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.3367A>G (p.Ile1123Val) single nucleotide variant not provided [RCV002047040] Chr15:51499857 [GRCh38]
Chr15:51792054 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.399G>T (p.Gln133His) single nucleotide variant Inborn genetic diseases [RCV002545850]|not provided [RCV001880491] Chr15:51564226 [GRCh38]
Chr15:51856423 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.928G>C (p.Glu310Gln) single nucleotide variant not provided [RCV001905375] Chr15:51545585 [GRCh38]
Chr15:51837782 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.3706A>G (p.Ile1236Val) single nucleotide variant not provided [RCV001876748] Chr15:51499518 [GRCh38]
Chr15:51791715 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.275A>T (p.Lys92Ile) single nucleotide variant not provided [RCV001990480] Chr15:51568497 [GRCh38]
Chr15:51860694 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.7175T>C (p.Leu2392Pro) single nucleotide variant not provided [RCV001997386] Chr15:51474382 [GRCh38]
Chr15:51766579 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.5217+7A>G single nucleotide variant not provided [RCV001923688] Chr15:51487947 [GRCh38]
Chr15:51780144 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.96A>G (p.Gly32=) single nucleotide variant not provided [RCV001980438] Chr15:51576173 [GRCh38]
Chr15:51868370 [GRCh37]
Chr15:15q21.2		 likely benign|uncertain significance
NM_001378457.1(DMXL2):c.3497A>C (p.Lys1166Thr) single nucleotide variant not provided [RCV002029266] Chr15:51499727 [GRCh38]
Chr15:51791924 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.8756C>T (p.Thr2919Met) single nucleotide variant not provided [RCV001880835] Chr15:51450340 [GRCh38]
Chr15:51742537 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.1114A>C (p.Asn372His) single nucleotide variant not provided [RCV002033804] Chr15:51538444 [GRCh38]
Chr15:51830641 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.7990G>C (p.Val2664Leu) single nucleotide variant Inborn genetic diseases [RCV003170450]|not provided [RCV001981063] Chr15:51458795 [GRCh38]
Chr15:51750992 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.3385G>A (p.Val1129Ile) single nucleotide variant Polyendocrine-polyneuropathy syndrome [RCV002272544]|not provided [RCV001960886] Chr15:51499839 [GRCh38]
Chr15:51792036 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.3347A>G (p.Glu1116Gly) single nucleotide variant not provided [RCV001980668] Chr15:51499877 [GRCh38]
Chr15:51792074 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.7420G>C (p.Val2474Leu) single nucleotide variant not provided [RCV001959790] Chr15:51466284 [GRCh38]
Chr15:51758481 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.3893A>T (p.His1298Leu) single nucleotide variant not provided [RCV002035601] Chr15:51499331 [GRCh38]
Chr15:51791528 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.8876C>G (p.Thr2959Arg) single nucleotide variant not provided [RCV002019092] Chr15:51450220 [GRCh38]
Chr15:51742417 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.2812G>C (p.Gly938Arg) single nucleotide variant not provided [RCV001938128] Chr15:51502986 [GRCh38]
Chr15:51795183 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.4953+5C>G single nucleotide variant not provided [RCV001961324] Chr15:51491573 [GRCh38]
Chr15:51783770 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.8418C>T (p.Asp2806=) single nucleotide variant not provided [RCV001998188] Chr15:51456174 [GRCh38]
Chr15:51748371 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.7314G>A (p.Pro2438=) single nucleotide variant not provided [RCV001934780] Chr15:51471301 [GRCh38]
Chr15:51763498 [GRCh37]
Chr15:15q21.2		 likely benign|uncertain significance
NM_001378457.1(DMXL2):c.5018T>C (p.Met1673Thr) single nucleotide variant not provided [RCV002036454] Chr15:51488581 [GRCh38]
Chr15:51780778 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.1436G>A (p.Arg479Gln) single nucleotide variant Inborn genetic diseases [RCV003164195]|not provided [RCV001867832] Chr15:51537669 [GRCh38]
Chr15:51829866 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.7769G>A (p.Arg2590Gln) single nucleotide variant not provided [RCV002016266] Chr15:51464714 [GRCh38]
Chr15:51756911 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.4243G>T (p.Asp1415Tyr) single nucleotide variant not provided [RCV001991755] Chr15:51498981 [GRCh38]
Chr15:51791178 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.6367T>G (p.Ser2123Ala) single nucleotide variant not provided [RCV001952998] Chr15:51480739 [GRCh38]
Chr15:51772936 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.3491A>G (p.Asn1164Ser) single nucleotide variant not provided [RCV001934974] Chr15:51499733 [GRCh38]
Chr15:51791930 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.8833C>A (p.His2945Asn) single nucleotide variant Inborn genetic diseases [RCV002552144]|not provided [RCV001879223] Chr15:51450263 [GRCh38]
Chr15:51742460 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.6376C>T (p.Arg2126Cys) single nucleotide variant DMXL2-related condition [RCV003416530]|not provided [RCV001881317] Chr15:51480730 [GRCh38]
Chr15:51772927 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.3927A>C (p.Lys1309Asn) single nucleotide variant not provided [RCV001957947] Chr15:51499297 [GRCh38]
Chr15:51791494 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.2486G>A (p.Arg829Gln) single nucleotide variant not provided [RCV001994963] Chr15:51517118 [GRCh38]
Chr15:51809315 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.4016T>G (p.Val1339Gly) single nucleotide variant Inborn genetic diseases [RCV002555247]|not provided [RCV001903247] Chr15:51499208 [GRCh38]
Chr15:51791405 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.2930T>C (p.Val977Ala) single nucleotide variant not provided [RCV001903181] Chr15:51502868 [GRCh38]
Chr15:51795065 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.2099A>G (p.Lys700Arg) single nucleotide variant not provided [RCV001880762] Chr15:51536381 [GRCh38]
Chr15:51828578 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.3976A>G (p.Thr1326Ala) single nucleotide variant not provided [RCV002026633] Chr15:51499248 [GRCh38]
Chr15:51791445 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.7750G>A (p.Ala2584Thr) single nucleotide variant not provided [RCV001879658] Chr15:51464733 [GRCh38]
Chr15:51756930 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.5974G>A (p.Asp1992Asn) single nucleotide variant not provided [RCV001923332] Chr15:51481132 [GRCh38]
Chr15:51773329 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.2874T>C (p.Ser958=) single nucleotide variant not provided [RCV002207029] Chr15:51502924 [GRCh38]
Chr15:51795121 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.8691C>T (p.Asp2897=) single nucleotide variant not provided [RCV002146842] Chr15:51453555 [GRCh38]
Chr15:51745752 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.6565-11A>G single nucleotide variant not provided [RCV002192454] Chr15:51480150 [GRCh38]
Chr15:51772347 [GRCh37]
Chr15:15q21.2		 benign
NM_001378457.1(DMXL2):c.88-12_88-3dup duplication not provided [RCV002107300] Chr15:51576183..51576184 [GRCh38]
Chr15:51868380..51868381 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.6964+15G>A single nucleotide variant not provided [RCV002129001] Chr15:51476574 [GRCh38]
Chr15:51768771 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.6438G>A (p.Ser2146=) single nucleotide variant not provided [RCV002127112] Chr15:51480668 [GRCh38]
Chr15:51772865 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.88-11_88-3dup duplication not provided [RCV002127160] Chr15:51576183..51576184 [GRCh38]
Chr15:51868380..51868381 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.7190G>A (p.Arg2397Gln) single nucleotide variant Inborn genetic diseases [RCV003025440]|not provided [RCV002124720] Chr15:51474367 [GRCh38]
Chr15:51766564 [GRCh37]
Chr15:15q21.2		 benign|likely benign
NM_001378457.1(DMXL2):c.8004G>A (p.Leu2668=) single nucleotide variant not provided [RCV002186790] Chr15:51458781 [GRCh38]
Chr15:51750978 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.5052-11T>C single nucleotide variant not provided [RCV002205319] Chr15:51488130 [GRCh38]
Chr15:51780327 [GRCh37]
Chr15:15q21.2		 benign
NM_001378457.1(DMXL2):c.27A>C (p.Gly9=) single nucleotide variant not provided [RCV002144757] Chr15:51622519 [GRCh38]
Chr15:51914716 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.88-20_88-3dup duplication not provided [RCV002168945] Chr15:51576183..51576184 [GRCh38]
Chr15:51868380..51868381 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.9044T>C (p.Ile3015Thr) single nucleotide variant DMXL2-related condition [RCV003958761]|not provided [RCV002124969] Chr15:51449117 [GRCh38]
Chr15:51741314 [GRCh37]
Chr15:15q21.2		 benign|likely benign
NM_001378457.1(DMXL2):c.6423A>G (p.Ala2141=) single nucleotide variant not provided [RCV002108220] Chr15:51480683 [GRCh38]
Chr15:51772880 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.8399-14del deletion not provided [RCV002190566] Chr15:51456207 [GRCh38]
Chr15:51748404 [GRCh37]
Chr15:15q21.2		 benign
NM_001378457.1(DMXL2):c.8448G>T (p.Arg2816=) single nucleotide variant not provided [RCV002086608] Chr15:51456144 [GRCh38]
Chr15:51748341 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.4672+13G>A single nucleotide variant not provided [RCV002145873] Chr15:51498539 [GRCh38]
Chr15:51790736 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.2064A>G (p.Lys688=) single nucleotide variant not provided [RCV002168873] Chr15:51536416 [GRCh38]
Chr15:51828613 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.5451A>G (p.Glu1817=) single nucleotide variant not provided [RCV002189780] Chr15:51486104 [GRCh38]
Chr15:51778301 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.6849A>C (p.Gly2283=) single nucleotide variant not provided [RCV002147782] Chr15:51476704 [GRCh38]
Chr15:51768901 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.2109G>A (p.Ser703=) single nucleotide variant DMXL2-related condition [RCV003958524]|not provided [RCV002187184] Chr15:51536371 [GRCh38]
Chr15:51828568 [GRCh37]
Chr15:15q21.2		 benign|likely benign
NM_001378457.1(DMXL2):c.2526+9A>G single nucleotide variant not provided [RCV002224889] Chr15:51517069 [GRCh38]
Chr15:51809266 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.3435G>C (p.Leu1145=) single nucleotide variant not provided [RCV002185414] Chr15:51499789 [GRCh38]
Chr15:51791986 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.2526+15G>A single nucleotide variant not provided [RCV002208293] Chr15:51517063 [GRCh38]
Chr15:51809260 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.5769G>A (p.Gln1923=) single nucleotide variant DMXL2-related condition [RCV003933415]|not provided [RCV002111549] Chr15:51481337 [GRCh38]
Chr15:51773534 [GRCh37]
Chr15:15q21.2		 benign|likely benign
NM_001378457.1(DMXL2):c.4791T>C (p.Ser1597=) single nucleotide variant not provided [RCV002106940] Chr15:51491740 [GRCh38]
Chr15:51783937 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.6834-11A>G single nucleotide variant not provided [RCV002146692] Chr15:51476730 [GRCh38]
Chr15:51768927 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.1095C>T (p.Asn365=) single nucleotide variant not provided [RCV002097292] Chr15:51542343 [GRCh38]
Chr15:51834540 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.2508C>T (p.Leu836=) single nucleotide variant not provided [RCV002095998] Chr15:51517096 [GRCh38]
Chr15:51809293 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.6489C>T (p.Ser2163=) single nucleotide variant not provided [RCV002196152] Chr15:51480617 [GRCh38]
Chr15:51772814 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.88-14_88-3dup duplication not provided [RCV002078464] Chr15:51576183..51576184 [GRCh38]
Chr15:51868380..51868381 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.7214-19dup duplication not provided [RCV002196660] Chr15:51471419..51471420 [GRCh38]
Chr15:51763616..51763617 [GRCh37]
Chr15:15q21.2		 benign
NM_001378457.1(DMXL2):c.88-6_88-3dup duplication not provided [RCV002132033] Chr15:51576183..51576184 [GRCh38]
Chr15:51868380..51868381 [GRCh37]
Chr15:15q21.2		 benign
NM_001378457.1(DMXL2):c.6930C>T (p.His2310=) single nucleotide variant not provided [RCV002113356] Chr15:51476623 [GRCh38]
Chr15:51768820 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.5052-10C>T single nucleotide variant not provided [RCV002116465] Chr15:51488129 [GRCh38]
Chr15:51780326 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.3819G>A (p.Gln1273=) single nucleotide variant not provided [RCV002216007] Chr15:51499405 [GRCh38]
Chr15:51791602 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.1105+12A>C single nucleotide variant not provided [RCV002071108] Chr15:51542321 [GRCh38]
Chr15:51834518 [GRCh37]
Chr15:15q21.2		 benign
NM_001378457.1(DMXL2):c.8538G>A (p.Ala2846=) single nucleotide variant not provided [RCV002077391] Chr15:51455217 [GRCh38]
Chr15:51747414 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.7393-8del deletion not provided [RCV002165867] Chr15:51466319 [GRCh38]
Chr15:51758516 [GRCh37]
Chr15:15q21.2		 benign
NM_001378457.1(DMXL2):c.6896G>A (p.Arg2299His) single nucleotide variant DMXL2-related condition [RCV003951340]|not provided [RCV002206672] Chr15:51476657 [GRCh38]
Chr15:51768854 [GRCh37]
Chr15:15q21.2		 benign
NM_001378457.1(DMXL2):c.6463C>T (p.Leu2155=) single nucleotide variant not provided [RCV002075306] Chr15:51480643 [GRCh38]
Chr15:51772840 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.8967+19T>C single nucleotide variant not provided [RCV002097021] Chr15:51450110 [GRCh38]
Chr15:51742307 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.88-9_88-3dup duplication not provided [RCV002088508] Chr15:51576183..51576184 [GRCh38]
Chr15:51868380..51868381 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.88-19_88-3dup duplication not provided [RCV002166242] Chr15:51576183..51576184 [GRCh38]
Chr15:51868380..51868381 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.8697-18dup duplication not provided [RCV002169655] Chr15:51451714..51451715 [GRCh38]
Chr15:51743911..51743912 [GRCh37]
Chr15:15q21.2		 benign
NM_001378457.1(DMXL2):c.8382C>T (p.His2794=) single nucleotide variant not provided [RCV002212359] Chr15:51456325 [GRCh38]
Chr15:51748522 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.942T>C (p.His314=) single nucleotide variant not provided [RCV002078641] Chr15:51542496 [GRCh38]
Chr15:51834693 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.660C>T (p.Ser220=) single nucleotide variant not provided [RCV002133177] Chr15:51547316 [GRCh38]
Chr15:51839513 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.88-7_88-3dup duplication not provided [RCV002212829] Chr15:51576183..51576184 [GRCh38]
Chr15:51868380..51868381 [GRCh37]
Chr15:15q21.2		 benign
NM_001378457.1(DMXL2):c.6965-20G>A single nucleotide variant not provided [RCV002214564] Chr15:51474612 [GRCh38]
Chr15:51766809 [GRCh37]
Chr15:15q21.2		 benign
NM_001378457.1(DMXL2):c.8399-21_8399-18dup duplication not provided [RCV002124752] Chr15:51456210..51456211 [GRCh38]
Chr15:51748407..51748408 [GRCh37]
Chr15:15q21.2		 benign
NM_001378457.1(DMXL2):c.8718A>G (p.Thr2906=) single nucleotide variant not provided [RCV002213861] Chr15:51451676 [GRCh38]
Chr15:51743873 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.1617+12T>G single nucleotide variant not provided [RCV002207897] Chr15:51537476 [GRCh38]
Chr15:51829673 [GRCh37]
Chr15:15q21.2		 benign
NM_001378457.1(DMXL2):c.231T>C (p.Gly77=) single nucleotide variant not provided [RCV002094681] Chr15:51568541 [GRCh38]
Chr15:51860738 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.7214-12A>G single nucleotide variant not provided [RCV002087276] Chr15:51471413 [GRCh38]
Chr15:51763610 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.7275C>T (p.Leu2425=) single nucleotide variant not provided [RCV002080393] Chr15:51471340 [GRCh38]
Chr15:51763537 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.7557A>G (p.Ala2519=) single nucleotide variant not provided [RCV002195714] Chr15:51465615 [GRCh38]
Chr15:51757812 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.7047T>G (p.Val2349=) single nucleotide variant DMXL2-related condition [RCV003903440]|not provided [RCV002152613] Chr15:51474510 [GRCh38]
Chr15:51766707 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.88-4_88-3dup duplication not provided [RCV002153408] Chr15:51576183..51576184 [GRCh38]
Chr15:51868380..51868381 [GRCh37]
Chr15:15q21.2		 benign
NM_001378457.1(DMXL2):c.8406A>T (p.Thr2802=) single nucleotide variant not provided [RCV002197058] Chr15:51456186 [GRCh38]
Chr15:51748383 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.7214-19del deletion not provided [RCV002207540] Chr15:51471420 [GRCh38]
Chr15:51763617 [GRCh37]
Chr15:15q21.2		 benign
NM_001378457.1(DMXL2):c.1346-4T>G single nucleotide variant Inborn genetic diseases [RCV002560769]|not provided [RCV002199424] Chr15:51537763 [GRCh38]
Chr15:51829960 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.88-16_88-3dup duplication not provided [RCV002220730] Chr15:51576183..51576184 [GRCh38]
Chr15:51868380..51868381 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.3859A>G (p.Ser1287Gly) single nucleotide variant not provided [RCV002181457] Chr15:51499365 [GRCh38]
Chr15:51791562 [GRCh37]
Chr15:15q21.2		 benign
NM_001378457.1(DMXL2):c.6400T>C (p.Leu2134=) single nucleotide variant not provided [RCV002217208] Chr15:51480706 [GRCh38]
Chr15:51772903 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.1702A>G (p.Ile568Val) single nucleotide variant not provided [RCV002217356] Chr15:51536778 [GRCh38]
Chr15:51828975 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.5061T>C (p.His1687=) single nucleotide variant not provided [RCV002176283] Chr15:51488110 [GRCh38]
Chr15:51780307 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.4953+7T>C single nucleotide variant not provided [RCV002160584] Chr15:51491571 [GRCh38]
Chr15:51783768 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.8340T>C (p.Leu2780=) single nucleotide variant DMXL2-related condition [RCV003968827]|not provided [RCV002219512] Chr15:51456367 [GRCh38]
Chr15:51748564 [GRCh37]
Chr15:15q21.2		 benign
NM_001378457.1(DMXL2):c.6159T>C (p.Thr2053=) single nucleotide variant not provided [RCV002099158] Chr15:51480947 [GRCh38]
Chr15:51773144 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.7314G>T (p.Pro2438=) single nucleotide variant not provided [RCV002142689] Chr15:51471301 [GRCh38]
Chr15:51763498 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.88-13_88-3dup duplication not provided [RCV002177671] Chr15:51576183..51576184 [GRCh38]
Chr15:51868380..51868381 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.5483-20dup duplication not provided [RCV002175909] Chr15:51481642..51481643 [GRCh38]
Chr15:51773839..51773840 [GRCh37]
Chr15:15q21.2		 benign
NM_001378457.1(DMXL2):c.6408C>A (p.Ala2136=) single nucleotide variant DMXL2-related condition [RCV003916375]|not provided [RCV002198284] Chr15:51480698 [GRCh38]
Chr15:51772895 [GRCh37]
Chr15:15q21.2		 benign
NM_001378457.1(DMXL2):c.7035A>G (p.Leu2345=) single nucleotide variant not provided [RCV002083949] Chr15:51474522 [GRCh38]
Chr15:51766719 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.648A>G (p.Lys216=) single nucleotide variant not provided [RCV002118327] Chr15:51547328 [GRCh38]
Chr15:51839525 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.4954-13A>G single nucleotide variant not provided [RCV002164256] Chr15:51488658 [GRCh38]
Chr15:51780855 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.500+20_500+22del deletion not provided [RCV002198970] Chr15:51564103..51564105 [GRCh38]
Chr15:51856300..51856302 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.88-8_88-3dup duplication not provided [RCV002199000] Chr15:51576183..51576184 [GRCh38]
Chr15:51868380..51868381 [GRCh37]
Chr15:15q21.2		 benign
NM_001378457.1(DMXL2):c.8835C>T (p.His2945=) single nucleotide variant not provided [RCV002142511] Chr15:51450261 [GRCh38]
Chr15:51742458 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.1464G>T (p.Thr488=) single nucleotide variant not provided [RCV002141939] Chr15:51537641 [GRCh38]
Chr15:51829838 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.1346-7G>C single nucleotide variant not provided [RCV002119236] Chr15:51537766 [GRCh38]
Chr15:51829963 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.2527-11dup duplication not provided [RCV002139101] Chr15:51514569..51514570 [GRCh38]
Chr15:51806766..51806767 [GRCh37]
Chr15:15q21.2		 benign
NM_001378457.1(DMXL2):c.3567G>A (p.Ala1189=) single nucleotide variant not provided [RCV002163060] Chr15:51499657 [GRCh38]
Chr15:51791854 [GRCh37]
Chr15:15q21.2		 benign
NM_001378457.1(DMXL2):c.8025G>A (p.Ala2675=) single nucleotide variant not provided [RCV002144371] Chr15:51458760 [GRCh38]
Chr15:51750957 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.88-10_88-3dup duplication not provided [RCV002161262] Chr15:51576183..51576184 [GRCh38]
Chr15:51868380..51868381 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.746+18T>C single nucleotide variant not provided [RCV002159520] Chr15:51547212 [GRCh38]
Chr15:51839409 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.88-18_88-3dup duplication not provided [RCV002156307] Chr15:51576183..51576184 [GRCh38]
Chr15:51868380..51868381 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.798G>A (p.Arg266=) single nucleotide variant not provided [RCV002142842] Chr15:51545715 [GRCh38]
Chr15:51837912 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.8526+8T>C single nucleotide variant not provided [RCV002123792]|not specified [RCV003987978] Chr15:51456058 [GRCh38]
Chr15:51748255 [GRCh37]
Chr15:15q21.2		 likely benign|uncertain significance
NM_001378457.1(DMXL2):c.8811A>T (p.Leu2937=) single nucleotide variant not provided [RCV002143582] Chr15:51450285 [GRCh38]
Chr15:51742482 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.6833+11dup duplication not provided [RCV002143777] Chr15:51478259..51478260 [GRCh38]
Chr15:51770456..51770457 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.2765-19T>G single nucleotide variant not provided [RCV002140562] Chr15:51503052 [GRCh38]
Chr15:51795249 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.568-13A>G single nucleotide variant not provided [RCV002203559] Chr15:51547421 [GRCh38]
Chr15:51839618 [GRCh37]
Chr15:15q21.2		 benign
NM_001378457.1(DMXL2):c.88-3del deletion not provided [RCV002117789] Chr15:51576184 [GRCh38]
Chr15:51868381 [GRCh37]
Chr15:15q21.2		 benign
NM_001378457.1(DMXL2):c.88-15_88-3dup duplication not provided [RCV002121655] Chr15:51576183..51576184 [GRCh38]
Chr15:51868380..51868381 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.3420C>T (p.Ser1140=) single nucleotide variant DMXL2-related condition [RCV003911296]|not provided [RCV002216972] Chr15:51499804 [GRCh38]
Chr15:51792001 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.981T>G (p.Val327=) single nucleotide variant not provided [RCV002179627] Chr15:51542457 [GRCh38]
Chr15:51834654 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.8550T>A (p.Gly2850=) single nucleotide variant not provided [RCV002183392] Chr15:51455205 [GRCh38]
Chr15:51747402 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.5949C>T (p.Asp1983=) single nucleotide variant not provided [RCV002160037] Chr15:51481157 [GRCh38]
Chr15:51773354 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.2388A>G (p.Val796=) single nucleotide variant not provided [RCV002103990] Chr15:51535711 [GRCh38]
Chr15:51827908 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.4784-19T>C single nucleotide variant not provided [RCV002098977] Chr15:51491766 [GRCh38]
Chr15:51783963 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.8398+16C>T single nucleotide variant not provided [RCV002160150] Chr15:51456293 [GRCh38]
Chr15:51748490 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.2437-4A>G single nucleotide variant not provided [RCV002124158] Chr15:51517171 [GRCh38]
Chr15:51809368 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.213+20T>C single nucleotide variant not provided [RCV002136420] Chr15:51576036 [GRCh38]
Chr15:51868233 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.8399-8T>G single nucleotide variant not provided [RCV002204516] Chr15:51456201 [GRCh38]
Chr15:51748398 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.8199-5C>T single nucleotide variant not provided [RCV002082534] Chr15:51457471 [GRCh38]
Chr15:51749668 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.2019T>C (p.Ala673=) single nucleotide variant not provided [RCV002204710] Chr15:51536461 [GRCh38]
Chr15:51828658 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.7392+9T>C single nucleotide variant not provided [RCV002184681] Chr15:51471214 [GRCh38]
Chr15:51763411 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.7111C>T (p.Arg2371Trp) single nucleotide variant not provided [RCV003110832] Chr15:51474446 [GRCh38]
Chr15:51766643 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.8768A>C (p.His2923Pro) single nucleotide variant not provided [RCV003110714] Chr15:51450328 [GRCh38]
Chr15:51742525 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.7442G>A (p.Ser2481Asn) single nucleotide variant not provided [RCV003110296] Chr15:51466262 [GRCh38]
Chr15:51758459 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.6585C>G (p.Leu2195=) single nucleotide variant not provided [RCV003115826] Chr15:51480119 [GRCh38]
Chr15:51772316 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.3784G>A (p.Val1262Ile) single nucleotide variant not provided [RCV003113103] Chr15:51499440 [GRCh38]
Chr15:51791637 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.5295A>G (p.Ser1765=) single nucleotide variant not provided [RCV003115288] Chr15:51486260 [GRCh38]
Chr15:51778457 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.1771G>A (p.Gly591Arg) single nucleotide variant not provided [RCV003115360] Chr15:51536709 [GRCh38]
Chr15:51828906 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.2215A>G (p.Thr739Ala) single nucleotide variant Inborn genetic diseases [RCV003269538]|not provided [RCV003118332] Chr15:51536265 [GRCh38]
Chr15:51828462 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.555T>C (p.Ala185=) single nucleotide variant not provided [RCV003116153] Chr15:51563393 [GRCh38]
Chr15:51855590 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.3488C>T (p.Pro1163Leu) single nucleotide variant not provided [RCV003118406] Chr15:51499736 [GRCh38]
Chr15:51791933 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.2013T>C (p.His671=) single nucleotide variant not provided [RCV003112851] Chr15:51536467 [GRCh38]
Chr15:51828664 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.6120A>G (p.Glu2040=) single nucleotide variant not provided [RCV003117316] Chr15:51480986 [GRCh38]
Chr15:51773183 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.8074A>G (p.Lys2692Glu) single nucleotide variant not provided [RCV003121192] Chr15:51458711 [GRCh38]
Chr15:51750908 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.1009G>A (p.Asp337Asn) single nucleotide variant not provided [RCV003118655] Chr15:51542429 [GRCh38]
Chr15:51834626 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.8076+10C>A single nucleotide variant not provided [RCV003118971] Chr15:51458699 [GRCh38]
Chr15:51750896 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.5428C>G (p.Arg1810Gly) single nucleotide variant not provided [RCV003105253] Chr15:51486127 [GRCh38]
Chr15:51778324 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.418G>A (p.Asp140Asn) single nucleotide variant Developmental and epileptic encephalopathy, 81 [RCV002272650] Chr15:51564207 [GRCh38]
Chr15:51856404 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.8024C>T (p.Ala2675Val) single nucleotide variant See cases [RCV002252522] Chr15:51458761 [GRCh38]
Chr15:51750958 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.8291C>T (p.Ser2764Phe) single nucleotide variant See cases [RCV002252596] Chr15:51457374 [GRCh38]
Chr15:51749571 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.1346-8T>C single nucleotide variant not provided [RCV002276013] Chr15:51537767 [GRCh38]
Chr15:51829964 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.8550T>G (p.Gly2850=) single nucleotide variant not provided [RCV003852794] Chr15:51455205 [GRCh38]
Chr15:51747402 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.6273A>T (p.Glu2091Asp) single nucleotide variant not provided [RCV002262469] Chr15:51480833 [GRCh38]
Chr15:51773030 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.8373G>A (p.Met2791Ile) single nucleotide variant not provided [RCV002262468] Chr15:51456334 [GRCh38]
Chr15:51748531 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.4437G>A (p.Thr1479=) single nucleotide variant not provided [RCV002262470] Chr15:51498787 [GRCh38]
Chr15:51790984 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.8797A>C (p.Lys2933Gln) single nucleotide variant not provided [RCV002262467] Chr15:51450299 [GRCh38]
Chr15:51742496 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.8330C>T (p.Ala2777Val) single nucleotide variant not provided [RCV002297756] Chr15:51457335 [GRCh38]
Chr15:51749532 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.6253C>T (p.His2085Tyr) single nucleotide variant Inborn genetic diseases [RCV003257062] Chr15:51480853 [GRCh38]
Chr15:51773050 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.109A>C (p.Ile37Leu) single nucleotide variant not provided [RCV002303497] Chr15:51576160 [GRCh38]
Chr15:51868357 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.717G>A (p.Ser239=) single nucleotide variant not provided [RCV002681787] Chr15:51547259 [GRCh38]
Chr15:51839456 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.8968-6C>T single nucleotide variant not provided [RCV002614131] Chr15:51449199 [GRCh38]
Chr15:51741396 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.661T>C (p.Ser221Pro) single nucleotide variant not provided [RCV002303784] Chr15:51547315 [GRCh38]
Chr15:51839512 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.2676C>G (p.Phe892Leu) single nucleotide variant not provided [RCV002303303] Chr15:51507222 [GRCh38]
Chr15:51799419 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.8857C>G (p.Gln2953Glu) single nucleotide variant not provided [RCV002304269] Chr15:51450239 [GRCh38]
Chr15:51742436 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.8839T>C (p.Cys2947Arg) single nucleotide variant not provided [RCV002304740] Chr15:51450257 [GRCh38]
Chr15:51742454 [GRCh37]
Chr15:15q21.2		 uncertain significance
GRCh37/hg19 15q21.1-22.2(chr15:48589845-63543438)x3 copy number gain not provided [RCV002472512] Chr15:48589845..63543438 [GRCh37]
Chr15:15q21.1-22.2		 pathogenic
NM_001378457.1(DMXL2):c.1016C>T (p.Thr339Ile) single nucleotide variant not provided [RCV002296387] Chr15:51542422 [GRCh38]
Chr15:51834619 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.8924A>G (p.Tyr2975Cys) single nucleotide variant not provided [RCV002299025] Chr15:51450172 [GRCh38]
Chr15:51742369 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.3676G>T (p.Val1226Phe) single nucleotide variant not provided [RCV002295589] Chr15:51499548 [GRCh38]
Chr15:51791745 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.3334A>G (p.Thr1112Ala) single nucleotide variant not provided [RCV002301393] Chr15:51499890 [GRCh38]
Chr15:51792087 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.8408G>T (p.Gly2803Val) single nucleotide variant not provided [RCV002301434] Chr15:51456184 [GRCh38]
Chr15:51748381 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.3848C>T (p.Thr1283Ile) single nucleotide variant not provided [RCV002303186] Chr15:51499376 [GRCh38]
Chr15:51791573 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.2738A>G (p.His913Arg) single nucleotide variant not provided [RCV002303213] Chr15:51507160 [GRCh38]
Chr15:51799357 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.8749+11G>T single nucleotide variant not provided [RCV002862194] Chr15:51451634 [GRCh38]
Chr15:51743831 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.2576T>C (p.Ile859Thr) single nucleotide variant DMXL2-related condition [RCV003973481]|not provided [RCV002775707] Chr15:51514510 [GRCh38]
Chr15:51806707 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.7535A>T (p.His2512Leu) single nucleotide variant not provided [RCV002972154] Chr15:51465637 [GRCh38]
Chr15:51757834 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.1845A>G (p.Lys615=) single nucleotide variant not provided [RCV003033232] Chr15:51536635 [GRCh38]
Chr15:51828832 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.2466G>T (p.Val822=) single nucleotide variant not provided [RCV002751493] Chr15:51517138 [GRCh38]
Chr15:51809335 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.4162G>A (p.Gly1388Arg) single nucleotide variant not provided [RCV002775380] Chr15:51499062 [GRCh38]
Chr15:51791259 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.931-16T>C single nucleotide variant not provided [RCV002880476] Chr15:51542523 [GRCh38]
Chr15:51834720 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.4987G>A (p.Ala1663Thr) single nucleotide variant Inborn genetic diseases [RCV002771215]|not provided [RCV002800764] Chr15:51488612 [GRCh38]
Chr15:51780809 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.159T>A (p.Ala53=) single nucleotide variant not provided [RCV002681839] Chr15:51576110 [GRCh38]
Chr15:51868307 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.1770C>T (p.His590=) single nucleotide variant not provided [RCV002993834] Chr15:51536710 [GRCh38]
Chr15:51828907 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.1634G>A (p.Arg545Gln) single nucleotide variant DMXL2-related condition [RCV003963647]|not provided [RCV003095427] Chr15:51536846 [GRCh38]
Chr15:51829043 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.7923T>A (p.Ser2641Arg) single nucleotide variant not provided [RCV002751186] Chr15:51463382 [GRCh38]
Chr15:51755579 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.8305G>A (p.Gly2769Ser) single nucleotide variant not provided [RCV002837775] Chr15:51457360 [GRCh38]
Chr15:51749557 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.1808T>C (p.Met603Thr) single nucleotide variant not provided [RCV002681951] Chr15:51536672 [GRCh38]
Chr15:51828869 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.2770G>T (p.Ala924Ser) single nucleotide variant not provided [RCV002616878] Chr15:51503028 [GRCh38]
Chr15:51795225 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.1748G>T (p.Gly583Val) single nucleotide variant not provided [RCV002615081] Chr15:51536732 [GRCh38]
Chr15:51828929 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.7555G>A (p.Ala2519Thr) single nucleotide variant not provided [RCV003073938] Chr15:51465617 [GRCh38]
Chr15:51757814 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.500+17A>T single nucleotide variant not provided [RCV002681941] Chr15:51564108 [GRCh38]
Chr15:51856305 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.203A>C (p.Gln68Pro) single nucleotide variant not provided [RCV002730497] Chr15:51576066 [GRCh38]
Chr15:51868263 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.326dup (p.Leu109fs) duplication not provided [RCV002816087] Chr15:51565125..51565126 [GRCh38]
Chr15:51857322..51857323 [GRCh37]
Chr15:15q21.2		 pathogenic
NM_001378457.1(DMXL2):c.6932C>G (p.Ala2311Gly) single nucleotide variant not provided [RCV002994837] Chr15:51476621 [GRCh38]
Chr15:51768818 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.3481C>G (p.Leu1161Val) single nucleotide variant not provided [RCV002991692] Chr15:51499743 [GRCh38]
Chr15:51791940 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.5078C>T (p.Thr1693Ile) single nucleotide variant not provided [RCV002685900] Chr15:51488093 [GRCh38]
Chr15:51780290 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.1262A>T (p.His421Leu) single nucleotide variant not provided [RCV003033287] Chr15:51538296 [GRCh38]
Chr15:51830493 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.3116A>G (p.Lys1039Arg) single nucleotide variant not provided [RCV002903196] Chr15:51500108 [GRCh38]
Chr15:51792305 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.3694C>T (p.Leu1232Phe) single nucleotide variant not provided [RCV002461861] Chr15:51499530 [GRCh38]
Chr15:51791727 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.6726A>G (p.Thr2242=) single nucleotide variant not provided [RCV002839004] Chr15:51479978 [GRCh38]
Chr15:51772175 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.87+15G>A single nucleotide variant not provided [RCV002731558] Chr15:51622444 [GRCh38]
Chr15:51914641 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.6597A>G (p.Leu2199=) single nucleotide variant not provided [RCV002816221] Chr15:51480107 [GRCh38]
Chr15:51772304 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.2137C>T (p.Arg713Cys) single nucleotide variant not provided [RCV002613747] Chr15:51536343 [GRCh38]
Chr15:51828540 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.1617+18A>C single nucleotide variant not provided [RCV002771353] Chr15:51537470 [GRCh38]
Chr15:51829667 [GRCh37]
Chr15:15q21.2		 benign
NM_001378457.1(DMXL2):c.1776A>C (p.Ser592=) single nucleotide variant not provided [RCV002618580] Chr15:51536704 [GRCh38]
Chr15:51828901 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.1206A>G (p.Ser402=) single nucleotide variant not provided [RCV002993840] Chr15:51538352 [GRCh38]
Chr15:51830549 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.4670C>T (p.Ser1557Leu) single nucleotide variant not provided [RCV003074249] Chr15:51498554 [GRCh38]
Chr15:51790751 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.7728T>C (p.Tyr2576=) single nucleotide variant not provided [RCV002730781] Chr15:51464755 [GRCh38]
Chr15:51756952 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.7727A>G (p.Tyr2576Cys) single nucleotide variant not provided [RCV002996768] Chr15:51464756 [GRCh38]
Chr15:51756953 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.7392+15G>T single nucleotide variant not provided [RCV002618105] Chr15:51471208 [GRCh38]
Chr15:51763405 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.9167A>G (p.Asp3056Gly) single nucleotide variant not provided [RCV002756485] Chr15:51448994 [GRCh38]
Chr15:51741191 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.1938T>C (p.Tyr646=) single nucleotide variant not provided [RCV002795132] Chr15:51536542 [GRCh38]
Chr15:51828739 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.7566T>C (p.Asn2522=) single nucleotide variant not provided [RCV002863697] Chr15:51465606 [GRCh38]
Chr15:51757803 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.4783+19G>A single nucleotide variant not provided [RCV002636161] Chr15:51495005 [GRCh38]
Chr15:51787202 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.4720C>T (p.Arg1574Cys) single nucleotide variant Inborn genetic diseases [RCV002841011] Chr15:51495087 [GRCh38]
Chr15:51787284 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.4144G>C (p.Val1382Leu) single nucleotide variant Inborn genetic diseases [RCV002864207] Chr15:51499080 [GRCh38]
Chr15:51791277 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.8198+5G>A single nucleotide variant not provided [RCV002866141] Chr15:51458501 [GRCh38]
Chr15:51750698 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.7164C>T (p.Gly2388=) single nucleotide variant not provided [RCV002614863] Chr15:51474393 [GRCh38]
Chr15:51766590 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.2314+4A>G single nucleotide variant not provided [RCV002819540] Chr15:51536162 [GRCh38]
Chr15:51828359 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.2259C>T (p.Thr753=) single nucleotide variant not provided [RCV002756704] Chr15:51536221 [GRCh38]
Chr15:51828418 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.5947G>A (p.Asp1983Asn) single nucleotide variant Inborn genetic diseases [RCV002775481]|not provided [RCV002775480] Chr15:51481159 [GRCh38]
Chr15:51773356 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.8895A>C (p.Ser2965=) single nucleotide variant not provided [RCV002819452] Chr15:51450201 [GRCh38]
Chr15:51742398 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.7393-5T>C single nucleotide variant not provided [RCV003017402] Chr15:51466316 [GRCh38]
Chr15:51758513 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.3897G>A (p.Ser1299=) single nucleotide variant not provided [RCV002617829] Chr15:51499327 [GRCh38]
Chr15:51791524 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.7809-6dup duplication not provided [RCV002756378] Chr15:51463501..51463502 [GRCh38]
Chr15:51755698..51755699 [GRCh37]
Chr15:15q21.2		 benign
NM_001378457.1(DMXL2):c.8112T>C (p.His2704=) single nucleotide variant not provided [RCV002726391] Chr15:51458592 [GRCh38]
Chr15:51750789 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.5049T>C (p.Phe1683=) single nucleotide variant not provided [RCV002685720] Chr15:51488550 [GRCh38]
Chr15:51780747 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.2787C>G (p.Ser929=) single nucleotide variant not provided [RCV003013829] Chr15:51503011 [GRCh38]
Chr15:51795208 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.5200T>C (p.Leu1734=) single nucleotide variant not provided [RCV002863555] Chr15:51487971 [GRCh38]
Chr15:51780168 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.2165A>G (p.Tyr722Cys) single nucleotide variant not provided [RCV003033905] Chr15:51536315 [GRCh38]
Chr15:51828512 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.8605-4G>T single nucleotide variant not provided [RCV003013854] Chr15:51453645 [GRCh38]
Chr15:51745842 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.5015C>T (p.Ser1672Leu) single nucleotide variant not provided [RCV002816223] Chr15:51488584 [GRCh38]
Chr15:51780781 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.2241A>G (p.Arg747=) single nucleotide variant not provided [RCV002858126] Chr15:51536239 [GRCh38]
Chr15:51828436 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.213+12A>C single nucleotide variant not provided [RCV002861333] Chr15:51576044 [GRCh38]
Chr15:51868241 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.501-11C>T single nucleotide variant not provided [RCV002904954] Chr15:51563458 [GRCh38]
Chr15:51855655 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.6964+19A>C single nucleotide variant not provided [RCV002685662] Chr15:51476570 [GRCh38]
Chr15:51768767 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.8302C>T (p.Leu2768=) single nucleotide variant not provided [RCV002971504] Chr15:51457363 [GRCh38]
Chr15:51749560 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.7304C>T (p.Thr2435Ile) single nucleotide variant not provided [RCV002774868] Chr15:51471311 [GRCh38]
Chr15:51763508 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.3883A>G (p.Met1295Val) single nucleotide variant not provided [RCV002994620] Chr15:51499341 [GRCh38]
Chr15:51791538 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.6570T>C (p.Thr2190=) single nucleotide variant not provided [RCV002726758] Chr15:51480134 [GRCh38]
Chr15:51772331 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.7036T>G (p.Cys2346Gly) single nucleotide variant not provided [RCV002994742] Chr15:51474521 [GRCh38]
Chr15:51766718 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.4560C>T (p.His1520=) single nucleotide variant not provided [RCV002881610] Chr15:51498664 [GRCh38]
Chr15:51790861 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.7821T>A (p.Ser2607=) single nucleotide variant not provided [RCV003014141] Chr15:51463484 [GRCh38]
Chr15:51755681 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.8573A>T (p.Asn2858Ile) single nucleotide variant not provided [RCV002970632] Chr15:51455182 [GRCh38]
Chr15:51747379 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.7704A>G (p.Pro2568=) single nucleotide variant not provided [RCV002907611] Chr15:51464779 [GRCh38]
Chr15:51756976 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.8081A>G (p.Asn2694Ser) single nucleotide variant not provided [RCV002755463] Chr15:51458623 [GRCh38]
Chr15:51750820 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.6007G>A (p.Ala2003Thr) single nucleotide variant not provided [RCV002617741] Chr15:51481099 [GRCh38]
Chr15:51773296 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.697C>G (p.Arg233Gly) single nucleotide variant Inborn genetic diseases [RCV002817856] Chr15:51547279 [GRCh38]
Chr15:51839476 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.7591G>C (p.Gly2531Arg) single nucleotide variant not provided [RCV002993929] Chr15:51465581 [GRCh38]
Chr15:51757778 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.342C>G (p.Tyr114Ter) single nucleotide variant not provided [RCV003014629] Chr15:51565110 [GRCh38]
Chr15:51857307 [GRCh37]
Chr15:15q21.2		 pathogenic
NM_001378457.1(DMXL2):c.8777C>T (p.Thr2926Met) single nucleotide variant Inborn genetic diseases [RCV002776346]|not provided [RCV002790708]|not specified [RCV003988026] Chr15:51450319 [GRCh38]
Chr15:51742516 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.88-22_88-3dup duplication not provided [RCV002902948] Chr15:51576183..51576184 [GRCh38]
Chr15:51868380..51868381 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.3847A>T (p.Thr1283Ser) single nucleotide variant not provided [RCV002726234] Chr15:51499377 [GRCh38]
Chr15:51791574 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.54C>T (p.Tyr18=) single nucleotide variant not provided [RCV003075608] Chr15:51622492 [GRCh38]
Chr15:51914689 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.6666T>A (p.Pro2222=) single nucleotide variant not provided [RCV002681120] Chr15:51480038 [GRCh38]
Chr15:51772235 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.141A>T (p.Val47=) single nucleotide variant not provided [RCV002614783] Chr15:51576128 [GRCh38]
Chr15:51868325 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.4441G>T (p.Asp1481Tyr) single nucleotide variant not provided [RCV002750916] Chr15:51498783 [GRCh38]
Chr15:51790980 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.5333G>C (p.Gly1778Ala) single nucleotide variant Inborn genetic diseases [RCV002775165]|not provided [RCV002741966] Chr15:51486222 [GRCh38]
Chr15:51778419 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.1523T>A (p.Met508Lys) single nucleotide variant not provided [RCV002904446] Chr15:51537582 [GRCh38]
Chr15:51829779 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.1021A>G (p.Met341Val) single nucleotide variant not provided [RCV002776098] Chr15:51542417 [GRCh38]
Chr15:51834614 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.2008C>T (p.His670Tyr) single nucleotide variant not provided [RCV002681292] Chr15:51536472 [GRCh38]
Chr15:51828669 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.6719T>A (p.Met2240Lys) single nucleotide variant not provided [RCV002815688] Chr15:51479985 [GRCh38]
Chr15:51772182 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.5361T>C (p.Ser1787=) single nucleotide variant not provided [RCV002616095] Chr15:51486194 [GRCh38]
Chr15:51778391 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.414A>C (p.Pro138=) single nucleotide variant not provided [RCV002751033] Chr15:51564211 [GRCh38]
Chr15:51856408 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.73G>A (p.Asp25Asn) single nucleotide variant not provided [RCV002838554] Chr15:51622473 [GRCh38]
Chr15:51914670 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.3441G>A (p.Val1147=) single nucleotide variant not provided [RCV002775218] Chr15:51499783 [GRCh38]
Chr15:51791980 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.8182G>C (p.Asp2728His) single nucleotide variant not provided [RCV002685920] Chr15:51458522 [GRCh38]
Chr15:51750719 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.6494A>G (p.His2165Arg) single nucleotide variant not provided [RCV003016156] Chr15:51480612 [GRCh38]
Chr15:51772809 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.2102G>T (p.Gly701Val) single nucleotide variant not provided [RCV002617759] Chr15:51536378 [GRCh38]
Chr15:51828575 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.88-5_88-3del deletion not provided [RCV002904377] Chr15:51576184..51576186 [GRCh38]
Chr15:51868381..51868383 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.2527-9T>G single nucleotide variant not provided [RCV003033847] Chr15:51514568 [GRCh38]
Chr15:51806765 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.6895C>T (p.Arg2299Cys) single nucleotide variant not provided [RCV002775228] Chr15:51476658 [GRCh38]
Chr15:51768855 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.8819G>C (p.Gly2940Ala) single nucleotide variant Inborn genetic diseases [RCV003269389]|not provided [RCV003016372] Chr15:51450277 [GRCh38]
Chr15:51742474 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.8076+12C>T single nucleotide variant not provided [RCV002947219] Chr15:51458697 [GRCh38]
Chr15:51750894 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.4974A>G (p.Gln1658=) single nucleotide variant not provided [RCV002991568] Chr15:51488625 [GRCh38]
Chr15:51780822 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.1812C>G (p.Asn604Lys) single nucleotide variant Inborn genetic diseases [RCV002879839] Chr15:51536668 [GRCh38]
Chr15:51828865 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.5486TCA[1] (p.Ile1830del) microsatellite not provided [RCV002755828] Chr15:51481615..51481617 [GRCh38]
Chr15:51773812..51773814 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.8967+14A>G single nucleotide variant not provided [RCV002617191] Chr15:51450115 [GRCh38]
Chr15:51742312 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.8076+10C>G single nucleotide variant not provided [RCV002731054] Chr15:51458699 [GRCh38]
Chr15:51750896 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.5364C>G (p.Cys1788Trp) single nucleotide variant not provided [RCV002903189] Chr15:51486191 [GRCh38]
Chr15:51778388 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.375G>T (p.Leu125Phe) single nucleotide variant not provided [RCV002838831] Chr15:51564250 [GRCh38]
Chr15:51856447 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.3903T>C (p.Phe1301=) single nucleotide variant not provided [RCV002882001] Chr15:51499321 [GRCh38]
Chr15:51791518 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.931-6T>C single nucleotide variant not provided [RCV003016624] Chr15:51542513 [GRCh38]
Chr15:51834710 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.5970A>T (p.Glu1990Asp) single nucleotide variant not provided [RCV002842912] Chr15:51481136 [GRCh38]
Chr15:51773333 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.2161A>G (p.Ile721Val) single nucleotide variant not provided [RCV002461891] Chr15:51536319 [GRCh38]
Chr15:51828516 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.8823T>C (p.Gly2941=) single nucleotide variant not provided [RCV003099039] Chr15:51450273 [GRCh38]
Chr15:51742470 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.1438C>T (p.Leu480Phe) single nucleotide variant not provided [RCV002750609] Chr15:51537667 [GRCh38]
Chr15:51829864 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.930+5T>G single nucleotide variant not provided [RCV003034292] Chr15:51545578 [GRCh38]
Chr15:51837775 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.2488C>G (p.Pro830Ala) single nucleotide variant not provided [RCV002756361] Chr15:51517116 [GRCh38]
Chr15:51809313 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.4323A>G (p.Thr1441=) single nucleotide variant not provided [RCV003075813] Chr15:51498901 [GRCh38]
Chr15:51791098 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.3909T>C (p.Ser1303=) single nucleotide variant not provided [RCV002618031] Chr15:51499315 [GRCh38]
Chr15:51791512 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.387T>C (p.Thr129=) single nucleotide variant not provided [RCV002994535] Chr15:51564238 [GRCh38]
Chr15:51856435 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.3225C>T (p.Ser1075=) single nucleotide variant not provided [RCV002881125] Chr15:51499999 [GRCh38]
Chr15:51792196 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.5802A>G (p.Val1934=) single nucleotide variant not provided [RCV002617914] Chr15:51481304 [GRCh38]
Chr15:51773501 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.1346-18A>G single nucleotide variant not provided [RCV002755649] Chr15:51537777 [GRCh38]
Chr15:51829974 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.8412T>G (p.Ala2804=) single nucleotide variant not provided [RCV002858252] Chr15:51456180 [GRCh38]
Chr15:51748377 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.5973C>T (p.Asp1991=) single nucleotide variant not provided [RCV002971072] Chr15:51481133 [GRCh38]
Chr15:51773330 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.8226C>T (p.Ser2742=) single nucleotide variant not provided [RCV002947747] Chr15:51457439 [GRCh38]
Chr15:51749636 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.9027G>C (p.Gln3009His) single nucleotide variant not provided [RCV002617509] Chr15:51449134 [GRCh38]
Chr15:51741331 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.3881C>G (p.Ala1294Gly) single nucleotide variant not provided [RCV002618032] Chr15:51499343 [GRCh38]
Chr15:51791540 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.3497A>G (p.Lys1166Arg) single nucleotide variant not provided [RCV002614760] Chr15:51499727 [GRCh38]
Chr15:51791924 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.6190G>A (p.Val2064Ile) single nucleotide variant not provided [RCV002858509] Chr15:51480916 [GRCh38]
Chr15:51773113 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.4953+13T>C single nucleotide variant not provided [RCV002730809] Chr15:51491565 [GRCh38]
Chr15:51783762 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.1337T>C (p.Leu446Ser) single nucleotide variant Inborn genetic diseases [RCV002762254] Chr15:51538221 [GRCh38]
Chr15:51830418 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.8332A>T (p.Ser2778Cys) single nucleotide variant Inborn genetic diseases [RCV003167697]|not provided [RCV002735890] Chr15:51457333 [GRCh38]
Chr15:51749530 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.6564G>A (p.Gln2188=) single nucleotide variant not provided [RCV003002463] Chr15:51480542 [GRCh38]
Chr15:51772739 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.5855G>C (p.Trp1952Ser) single nucleotide variant not provided [RCV003055499] Chr15:51481251 [GRCh38]
Chr15:51773448 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.1108A>G (p.Ile370Val) single nucleotide variant Inborn genetic diseases [RCV003081664]|not provided [RCV003069156] Chr15:51538450 [GRCh38]
Chr15:51830647 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.2436+4_2436+7del microsatellite not provided [RCV002847945] Chr15:51535656..51535659 [GRCh38]
Chr15:51827853..51827856 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.2083C>T (p.Pro695Ser) single nucleotide variant not provided [RCV002923691] Chr15:51536397 [GRCh38]
Chr15:51828594 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.784G>C (p.Asp262His) single nucleotide variant not provided [RCV002797199] Chr15:51545729 [GRCh38]
Chr15:51837926 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.8483A>C (p.Asn2828Thr) single nucleotide variant not provided [RCV002695957] Chr15:51456109 [GRCh38]
Chr15:51748306 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.1941C>T (p.Cys647=) single nucleotide variant not provided [RCV002800147] Chr15:51536539 [GRCh38]
Chr15:51828736 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.1477C>T (p.Arg493Trp) single nucleotide variant not provided [RCV003080501] Chr15:51537628 [GRCh38]
Chr15:51829825 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.3488C>A (p.Pro1163Gln) single nucleotide variant not provided [RCV002735351] Chr15:51499736 [GRCh38]
Chr15:51791933 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.6920T>C (p.Ile2307Thr) single nucleotide variant not provided [RCV002796268] Chr15:51476633 [GRCh38]
Chr15:51768830 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.8604+16T>C single nucleotide variant not provided [RCV002705956] Chr15:51455135 [GRCh38]
Chr15:51747332 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.1898C>A (p.Ala633Asp) single nucleotide variant not provided [RCV002953555] Chr15:51536582 [GRCh38]
Chr15:51828779 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.6833+10_6833+11del deletion not provided [RCV003053011] Chr15:51478260..51478261 [GRCh38]
Chr15:51770457..51770458 [GRCh37]
Chr15:15q21.2		 benign
NM_001378457.1(DMXL2):c.5482+7C>T single nucleotide variant not provided [RCV002593190] Chr15:51486066 [GRCh38]
Chr15:51778263 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.2493C>T (p.Gly831=) single nucleotide variant not provided [RCV003039615] Chr15:51517111 [GRCh38]
Chr15:51809308 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.7808A>G (p.Lys2603Arg) single nucleotide variant not provided [RCV002999416] Chr15:51464675 [GRCh38]
Chr15:51756872 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.6639G>A (p.Ala2213=) single nucleotide variant not provided [RCV002622126] Chr15:51480065 [GRCh38]
Chr15:51772262 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.1280A>G (p.Asp427Gly) single nucleotide variant Inborn genetic diseases [RCV003167748]|not provided [RCV002800191] Chr15:51538278 [GRCh38]
Chr15:51830475 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.8740C>G (p.Leu2914Val) single nucleotide variant not provided [RCV002927906] Chr15:51451654 [GRCh38]
Chr15:51743851 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.2497A>G (p.Ile833Val) single nucleotide variant not provided [RCV002623192] Chr15:51517107 [GRCh38]
Chr15:51809304 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.8077-4A>T single nucleotide variant not provided [RCV002570906] Chr15:51458631 [GRCh38]
Chr15:51750828 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.6874C>A (p.Gln2292Lys) single nucleotide variant not provided [RCV003035944] Chr15:51476679 [GRCh38]
Chr15:51768876 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.8131G>A (p.Val2711Ile) single nucleotide variant not provided [RCV002592899] Chr15:51458573 [GRCh38]
Chr15:51750770 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.1539C>T (p.His513=) single nucleotide variant not provided [RCV002623242] Chr15:51537566 [GRCh38]
Chr15:51829763 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.3848C>G (p.Thr1283Ser) single nucleotide variant not provided [RCV002640135] Chr15:51499376 [GRCh38]
Chr15:51791573 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.746+19G>A single nucleotide variant not provided [RCV002889543] Chr15:51547211 [GRCh38]
Chr15:51839408 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.8076+5A>G single nucleotide variant not provided [RCV003055613] Chr15:51458704 [GRCh38]
Chr15:51750901 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.1318C>T (p.Arg440Trp) single nucleotide variant not provided [RCV002659085] Chr15:51538240 [GRCh38]
Chr15:51830437 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.3489G>A (p.Pro1163=) single nucleotide variant not provided [RCV002706172] Chr15:51499735 [GRCh38]
Chr15:51791932 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.7149T>G (p.Ala2383=) single nucleotide variant not provided [RCV002824627] Chr15:51474408 [GRCh38]
Chr15:51766605 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.915A>T (p.Ile305=) single nucleotide variant not provided [RCV002658624] Chr15:51545598 [GRCh38]
Chr15:51837795 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.3790A>G (p.Met1264Val) single nucleotide variant Inborn genetic diseases [RCV003269364]|not provided [RCV002949727] Chr15:51499434 [GRCh38]
Chr15:51791631 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.88-21_88-3dup duplication not provided [RCV002952841] Chr15:51576183..51576184 [GRCh38]
Chr15:51868380..51868381 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.5253C>A (p.Ala1751=) single nucleotide variant not provided [RCV002622851] Chr15:51486302 [GRCh38]
Chr15:51778499 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.8132T>A (p.Val2711Asp) single nucleotide variant not provided [RCV002663080] Chr15:51458572 [GRCh38]
Chr15:51750769 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.6373G>C (p.Glu2125Gln) single nucleotide variant not provided [RCV002926789] Chr15:51480733 [GRCh38]
Chr15:51772930 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.2485C>T (p.Arg829Ter) single nucleotide variant not provided [RCV003002465] Chr15:51517119 [GRCh38]
Chr15:51809316 [GRCh37]
Chr15:15q21.2		 pathogenic
NM_001378457.1(DMXL2):c.7783C>A (p.Leu2595Ile) single nucleotide variant not provided [RCV003017957] Chr15:51464700 [GRCh38]
Chr15:51756897 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.88-9_88-3del deletion not provided [RCV002621373] Chr15:51576184..51576190 [GRCh38]
Chr15:51868381..51868387 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.2355T>C (p.Ser785=) single nucleotide variant not provided [RCV002662873] Chr15:51535744 [GRCh38]
Chr15:51827941 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.2981C>T (p.Thr994Met) single nucleotide variant not provided [RCV002658588] Chr15:51502817 [GRCh38]
Chr15:51795014 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.919C>T (p.His307Tyr) single nucleotide variant not provided [RCV002735755] Chr15:51545594 [GRCh38]
Chr15:51837791 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.2651G>A (p.Arg884His) single nucleotide variant not provided [RCV002590439] Chr15:51507247 [GRCh38]
Chr15:51799444 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.7383T>C (p.Phe2461=) single nucleotide variant not provided [RCV003018722] Chr15:51471232 [GRCh38]
Chr15:51763429 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.8337+17T>C single nucleotide variant not provided [RCV002795627] Chr15:51457311 [GRCh38]
Chr15:51749508 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.6756+9A>C single nucleotide variant not provided [RCV002637913] Chr15:51479939 [GRCh38]
Chr15:51772136 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.222T>C (p.Ala74=) single nucleotide variant not provided [RCV002736498] Chr15:51568550 [GRCh38]
Chr15:51860747 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.2427A>G (p.Pro809=) single nucleotide variant not provided [RCV003019940] Chr15:51535672 [GRCh38]
Chr15:51827869 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.7814G>A (p.Arg2605Gln) single nucleotide variant not provided [RCV002619856] Chr15:51463491 [GRCh38]
Chr15:51755688 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.6270T>C (p.His2090=) single nucleotide variant not provided [RCV002867593] Chr15:51480836 [GRCh38]
Chr15:51773033 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.9151C>T (p.Pro3051Ser) single nucleotide variant not provided [RCV002847274] Chr15:51449010 [GRCh38]
Chr15:51741207 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.4011A>G (p.Ala1337=) single nucleotide variant not provided [RCV002736543] Chr15:51499213 [GRCh38]
Chr15:51791410 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.6965-9C>A single nucleotide variant not provided [RCV002975894] Chr15:51474601 [GRCh38]
Chr15:51766798 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.7723A>G (p.Thr2575Ala) single nucleotide variant not provided [RCV003018342] Chr15:51464760 [GRCh38]
Chr15:51756957 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.6035A>C (p.Gln2012Pro) single nucleotide variant Inborn genetic diseases [RCV002923695]|not provided [RCV002958110] Chr15:51481071 [GRCh38]
Chr15:51773268 [GRCh37]
Chr15:15q21.2		 likely benign|uncertain significance
NM_001378457.1(DMXL2):c.2891T>A (p.Leu964His) single nucleotide variant not provided [RCV002820369] Chr15:51502907 [GRCh38]
Chr15:51795104 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.8076+13A>G single nucleotide variant not provided [RCV002885423] Chr15:51458696 [GRCh38]
Chr15:51750893 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.8500T>C (p.Leu2834=) single nucleotide variant not provided [RCV002780684] Chr15:51456092 [GRCh38]
Chr15:51748289 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.6219C>G (p.Leu2073=) single nucleotide variant not provided [RCV002781447] Chr15:51480887 [GRCh38]
Chr15:51773084 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.1617+7T>C single nucleotide variant not provided [RCV003018302] Chr15:51537481 [GRCh38]
Chr15:51829678 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.1219T>G (p.Phe407Val) single nucleotide variant not provided [RCV002694816] Chr15:51538339 [GRCh38]
Chr15:51830536 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.5847C>T (p.Gly1949=) single nucleotide variant DMXL2-related condition [RCV003973503]|not provided [RCV002847595] Chr15:51481259 [GRCh38]
Chr15:51773456 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.5728A>G (p.Lys1910Glu) single nucleotide variant Inborn genetic diseases [RCV002632285]|not provided [RCV002619537] Chr15:51481378 [GRCh38]
Chr15:51773575 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.5342A>C (p.Lys1781Thr) single nucleotide variant not provided [RCV002570142] Chr15:51486213 [GRCh38]
Chr15:51778410 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.2982G>A (p.Thr994=) single nucleotide variant not provided [RCV002639136] Chr15:51502816 [GRCh38]
Chr15:51795013 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.4427A>G (p.Asp1476Gly) single nucleotide variant not provided [RCV002735887] Chr15:51498797 [GRCh38]
Chr15:51790994 [GRCh37]
Chr15:15q21.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_001378457.1(DMXL2):c.326del (p.Phe108_Leu109insTer) deletion not provided [RCV002846726] Chr15:51565126 [GRCh38]
Chr15:51857323 [GRCh37]
Chr15:15q21.2		 pathogenic
NM_001378457.1(DMXL2):c.1328A>G (p.His443Arg) single nucleotide variant not provided [RCV002885509] Chr15:51538230 [GRCh38]
Chr15:51830427 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.2265G>A (p.Ala755=) single nucleotide variant not provided [RCV002636583] Chr15:51536215 [GRCh38]
Chr15:51828412 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.4084C>A (p.Arg1362=) single nucleotide variant not provided [RCV002780536] Chr15:51499140 [GRCh38]
Chr15:51791337 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.6566A>G (p.Glu2189Gly) single nucleotide variant not provided [RCV003019327] Chr15:51480138 [GRCh38]
Chr15:51772335 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.8362G>A (p.Val2788Ile) single nucleotide variant Hearing loss, autosomal dominant 71 [RCV003776835]|Inborn genetic diseases [RCV002705655]|not provided [RCV002705654] Chr15:51456345 [GRCh38]
Chr15:51748542 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.3423C>T (p.Val1141=) single nucleotide variant DMXL2-related condition [RCV003963712]|not provided [RCV002637874] Chr15:51499801 [GRCh38]
Chr15:51791998 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.3336A>G (p.Thr1112=) single nucleotide variant not provided [RCV002867298] Chr15:51499888 [GRCh38]
Chr15:51792085 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.8164T>C (p.Trp2722Arg) single nucleotide variant not provided [RCV003018834] Chr15:51458540 [GRCh38]
Chr15:51750737 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.6870T>C (p.Ala2290=) single nucleotide variant not provided [RCV002590967] Chr15:51476683 [GRCh38]
Chr15:51768880 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.3579G>A (p.Met1193Ile) single nucleotide variant not provided [RCV003018579] Chr15:51499645 [GRCh38]
Chr15:51791842 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.1128C>T (p.Gly376=) single nucleotide variant not provided [RCV003036882] Chr15:51538430 [GRCh38]
Chr15:51830627 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.3218C>T (p.Ala1073Val) single nucleotide variant not provided [RCV002909987] Chr15:51500006 [GRCh38]
Chr15:51792203 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.3520G>T (p.Val1174Leu) single nucleotide variant Inborn genetic diseases [RCV002692187] Chr15:51499704 [GRCh38]
Chr15:51791901 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.2992+10C>T single nucleotide variant not provided [RCV002705692] Chr15:51502796 [GRCh38]
Chr15:51794993 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.1094A>G (p.Asn365Ser) single nucleotide variant not provided [RCV002636339] Chr15:51542344 [GRCh38]
Chr15:51834541 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.4774C>T (p.Leu1592Phe) single nucleotide variant not provided [RCV002948795] Chr15:51495033 [GRCh38]
Chr15:51787230 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.3228T>C (p.Cys1076=) single nucleotide variant not provided [RCV002658578] Chr15:51499996 [GRCh38]
Chr15:51792193 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.3421G>A (p.Val1141Ile) single nucleotide variant Inborn genetic diseases [RCV002704978]|not provided [RCV003111766] Chr15:51499803 [GRCh38]
Chr15:51792000 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.8521A>C (p.Asn2841His) single nucleotide variant not provided [RCV002705535] Chr15:51456071 [GRCh38]
Chr15:51748268 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.501-14T>A single nucleotide variant not provided [RCV002591329] Chr15:51563461 [GRCh38]
Chr15:51855658 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.2210C>T (p.Ser737Leu) single nucleotide variant not provided [RCV002639860] Chr15:51536270 [GRCh38]
Chr15:51828467 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.8445G>A (p.Thr2815=) single nucleotide variant not provided [RCV002948832] Chr15:51456147 [GRCh38]
Chr15:51748344 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.747-16T>C single nucleotide variant not provided [RCV002695598] Chr15:51545782 [GRCh38]
Chr15:51837979 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.930+6A>G single nucleotide variant not provided [RCV003036434] Chr15:51545577 [GRCh38]
Chr15:51837774 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.7165G>A (p.Gly2389Ser) single nucleotide variant not provided [RCV002569488] Chr15:51474392 [GRCh38]
Chr15:51766589 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.3130G>A (p.Glu1044Lys) single nucleotide variant not provided [RCV002622722] Chr15:51500094 [GRCh38]
Chr15:51792291 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.2027C>T (p.Thr676Ile) single nucleotide variant not provided [RCV002949513] Chr15:51536453 [GRCh38]
Chr15:51828650 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.6501C>T (p.Ala2167=) single nucleotide variant not provided [RCV002820768] Chr15:51480605 [GRCh38]
Chr15:51772802 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.6108T>C (p.Asp2036=) single nucleotide variant not provided [RCV003038366] Chr15:51480998 [GRCh38]
Chr15:51773195 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.1308G>T (p.Glu436Asp) single nucleotide variant Inborn genetic diseases [RCV002796875]|not provided [RCV002796874] Chr15:51538250 [GRCh38]
Chr15:51830447 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.5997A>G (p.Lys1999=) single nucleotide variant not provided [RCV002705406] Chr15:51481109 [GRCh38]
Chr15:51773306 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.2368C>T (p.Leu790=) single nucleotide variant not provided [RCV002823920] Chr15:51535731 [GRCh38]
Chr15:51827928 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.2138G>A (p.Arg713His) single nucleotide variant not provided [RCV002592766] Chr15:51536342 [GRCh38]
Chr15:51828539 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.4784-10T>C single nucleotide variant not provided [RCV002621195] Chr15:51491757 [GRCh38]
Chr15:51783954 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.8199-20C>T single nucleotide variant not provided [RCV002640091] Chr15:51457486 [GRCh38]
Chr15:51749683 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.2515A>G (p.Ile839Val) single nucleotide variant not provided [RCV002638324] Chr15:51517089 [GRCh38]
Chr15:51809286 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.8266G>A (p.Ala2756Thr) single nucleotide variant not provided [RCV002976383] Chr15:51457399 [GRCh38]
Chr15:51749596 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.1611A>G (p.Gln537=) single nucleotide variant not provided [RCV002796910] Chr15:51537494 [GRCh38]
Chr15:51829691 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.7808+14T>C single nucleotide variant not provided [RCV002999824] Chr15:51464661 [GRCh38]
Chr15:51756858 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.6898A>G (p.Arg2300Gly) single nucleotide variant not provided [RCV002706530] Chr15:51476655 [GRCh38]
Chr15:51768852 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.963A>C (p.Gly321=) single nucleotide variant not provided [RCV003055145] Chr15:51542475 [GRCh38]
Chr15:51834672 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.2444T>C (p.Ile815Thr) single nucleotide variant not provided [RCV002909231] Chr15:51517160 [GRCh38]
Chr15:51809357 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.1119C>G (p.Val373=) single nucleotide variant not provided [RCV002620009] Chr15:51538439 [GRCh38]
Chr15:51830636 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.8321G>T (p.Ser2774Ile) single nucleotide variant not provided [RCV003036871] Chr15:51457344 [GRCh38]
Chr15:51749541 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.5364C>T (p.Cys1788=) single nucleotide variant not provided [RCV002695541] Chr15:51486191 [GRCh38]
Chr15:51778388 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.1979C>T (p.Ser660Leu) single nucleotide variant not provided [RCV003055148] Chr15:51536501 [GRCh38]
Chr15:51828698 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.9163_9165del (p.Leu3055del) deletion not provided [RCV003019616] Chr15:51448996..51448998 [GRCh38]
Chr15:51741193..51741195 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.7809-3T>C single nucleotide variant not provided [RCV002824804] Chr15:51463499 [GRCh38]
Chr15:51755696 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.3140A>G (p.His1047Arg) single nucleotide variant not provided [RCV002620350] Chr15:51500084 [GRCh38]
Chr15:51792281 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.1740C>G (p.His580Gln) single nucleotide variant not provided [RCV002796988] Chr15:51536740 [GRCh38]
Chr15:51828937 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.8198+17C>T single nucleotide variant not provided [RCV002797230] Chr15:51458489 [GRCh38]
Chr15:51750686 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.1989A>G (p.Pro663=) single nucleotide variant not provided [RCV002591768] Chr15:51536491 [GRCh38]
Chr15:51828688 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.3366A>G (p.Thr1122=) single nucleotide variant not provided [RCV003054987] Chr15:51499858 [GRCh38]
Chr15:51792055 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.5313C>T (p.Ile1771=) single nucleotide variant not provided [RCV003002686] Chr15:51486242 [GRCh38]
Chr15:51778439 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.4694G>A (p.Cys1565Tyr) single nucleotide variant not provided [RCV002619798] Chr15:51495113 [GRCh38]
Chr15:51787310 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.201C>G (p.Asn67Lys) single nucleotide variant not provided [RCV002999852] Chr15:51576068 [GRCh38]
Chr15:51868265 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.1849A>G (p.Ile617Val) single nucleotide variant not provided [RCV002926969] Chr15:51536631 [GRCh38]
Chr15:51828828 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.7705C>T (p.Pro2569Ser) single nucleotide variant Inborn genetic diseases [RCV002911188] Chr15:51464778 [GRCh38]
Chr15:51756975 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.8424T>C (p.Ser2808=) single nucleotide variant not provided [RCV002638880] Chr15:51456168 [GRCh38]
Chr15:51748365 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.8605-5C>T single nucleotide variant DMXL2-related condition [RCV003898772]|not provided [RCV003078109] Chr15:51453646 [GRCh38]
Chr15:51745843 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.8696+17G>A single nucleotide variant not provided [RCV003036198] Chr15:51453533 [GRCh38]
Chr15:51745730 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.1217T>C (p.Val406Ala) single nucleotide variant not provided [RCV002780567] Chr15:51538341 [GRCh38]
Chr15:51830538 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.6965-14A>G single nucleotide variant not provided [RCV002796175] Chr15:51474606 [GRCh38]
Chr15:51766803 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.3345A>G (p.Ser1115=) single nucleotide variant not provided [RCV002620643] Chr15:51499879 [GRCh38]
Chr15:51792076 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.4005G>A (p.Glu1335=) single nucleotide variant not provided [RCV003018817] Chr15:51499219 [GRCh38]
Chr15:51791416 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.6672G>C (p.Leu2224Phe) single nucleotide variant DMXL2-related condition [RCV003418700]|Inborn genetic diseases [RCV003269376]|not provided [RCV002979765] Chr15:51480032 [GRCh38]
Chr15:51772229 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.2644+14dup duplication not provided [RCV003039141] Chr15:51514427..51514428 [GRCh38]
Chr15:51806624..51806625 [GRCh37]
Chr15:15q21.2		 benign
NM_001378457.1(DMXL2):c.4390C>A (p.Pro1464Thr) single nucleotide variant not provided [RCV002824900] Chr15:51498834 [GRCh38]
Chr15:51791031 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.6110T>A (p.Val2037Glu) single nucleotide variant not provided [RCV002926671] Chr15:51480996 [GRCh38]
Chr15:51773193 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.286-15G>A single nucleotide variant not provided [RCV002761122] Chr15:51565181 [GRCh38]
Chr15:51857378 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.2314+18T>C single nucleotide variant not provided [RCV002706665] Chr15:51536148 [GRCh38]
Chr15:51828345 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.2734C>T (p.Leu912Phe) single nucleotide variant not provided [RCV002569989] Chr15:51507164 [GRCh38]
Chr15:51799361 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.7234G>T (p.Asp2412Tyr) single nucleotide variant not provided [RCV003018341] Chr15:51471381 [GRCh38]
Chr15:51763578 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.3348G>A (p.Glu1116=) single nucleotide variant not provided [RCV002885081] Chr15:51499876 [GRCh38]
Chr15:51792073 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.6431G>A (p.Arg2144Gln) single nucleotide variant not provided [RCV003039075] Chr15:51480675 [GRCh38]
Chr15:51772872 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.5004A>G (p.Leu1668=) single nucleotide variant not provided [RCV002923829] Chr15:51488595 [GRCh38]
Chr15:51780792 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.1271A>G (p.Asp424Gly) single nucleotide variant not provided [RCV002591233] Chr15:51538287 [GRCh38]
Chr15:51830484 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.8967+12C>G single nucleotide variant not provided [RCV002639787] Chr15:51450117 [GRCh38]
Chr15:51742314 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.1519_1520insGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAGAATCCTG (p.Asp507fs) insertion not provided [RCV003021561] Chr15:51537585..51537586 [GRCh38]
Chr15:51829782..51829783 [GRCh37]
Chr15:15q21.2		 pathogenic
NM_001378457.1(DMXL2):c.568G>A (p.Asp190Asn) single nucleotide variant not provided [RCV002820855] Chr15:51547408 [GRCh38]
Chr15:51839605 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.3057T>C (p.Cys1019=) single nucleotide variant not provided [RCV002637559] Chr15:51500167 [GRCh38]
Chr15:51792364 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.6172T>C (p.Leu2058=) single nucleotide variant not provided [RCV002591704] Chr15:51480934 [GRCh38]
Chr15:51773131 [GRCh37]
Chr15:15q21.2		 benign
NM_001378457.1(DMXL2):c.1625T>C (p.Phe542Ser) single nucleotide variant Inborn genetic diseases [RCV002661737] Chr15:51536855 [GRCh38]
Chr15:51829052 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.3914T>C (p.Met1305Thr) single nucleotide variant Inborn genetic diseases [RCV002784991] Chr15:51499310 [GRCh38]
Chr15:51791507 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.8444C>T (p.Thr2815Met) single nucleotide variant not provided [RCV002976404] Chr15:51456148 [GRCh38]
Chr15:51748345 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.6529A>T (p.Met2177Leu) single nucleotide variant not provided [RCV002706536] Chr15:51480577 [GRCh38]
Chr15:51772774 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.7789C>A (p.Pro2597Thr) single nucleotide variant not provided [RCV002706544] Chr15:51464694 [GRCh38]
Chr15:51756891 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.8219G>A (p.Arg2740His) single nucleotide variant Hearing loss, autosomal dominant 71 [RCV003155490]|not provided [RCV002761565] Chr15:51457446 [GRCh38]
Chr15:51749643 [GRCh37]
Chr15:15q21.2		 likely pathogenic|uncertain significance
NM_001378457.1(DMXL2):c.788G>A (p.Gly263Asp) single nucleotide variant Inborn genetic diseases [RCV002591519]|not provided [RCV002591518] Chr15:51545725 [GRCh38]
Chr15:51837922 [GRCh37]
Chr15:15q21.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_001378457.1(DMXL2):c.5243T>C (p.Ile1748Thr) single nucleotide variant not provided [RCV002622110] Chr15:51486312 [GRCh38]
Chr15:51778509 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.1105+15T>C single nucleotide variant not provided [RCV003043542] Chr15:51542318 [GRCh38]
Chr15:51834515 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.1539C>G (p.His513Gln) single nucleotide variant not provided [RCV002701233] Chr15:51537566 [GRCh38]
Chr15:51829763 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.1478G>A (p.Arg493Gln) single nucleotide variant DMXL2-related condition [RCV003973678]|not provided [RCV003085185] Chr15:51537627 [GRCh38]
Chr15:51829824 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.79C>A (p.Pro27Thr) single nucleotide variant not provided [RCV003023366] Chr15:51622467 [GRCh38]
Chr15:51914664 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.7213+9C>T single nucleotide variant not provided [RCV002595088] Chr15:51474335 [GRCh38]
Chr15:51766532 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.504C>G (p.Thr168=) single nucleotide variant not provided [RCV002918210] Chr15:51563444 [GRCh38]
Chr15:51855641 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.1840T>C (p.Ser614Pro) single nucleotide variant not provided [RCV002801352] Chr15:51536640 [GRCh38]
Chr15:51828837 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.2695A>G (p.Lys899Glu) single nucleotide variant not provided [RCV002958890] Chr15:51507203 [GRCh38]
Chr15:51799400 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.7582C>G (p.Pro2528Ala) single nucleotide variant not provided [RCV003024375] Chr15:51465590 [GRCh38]
Chr15:51757787 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.8697-15G>T single nucleotide variant not provided [RCV002805781] Chr15:51451712 [GRCh38]
Chr15:51743909 [GRCh37]
Chr15:15q21.2		 benign
NM_001378457.1(DMXL2):c.5609A>G (p.Glu1870Gly) single nucleotide variant not provided [RCV003022491] Chr15:51481497 [GRCh38]
Chr15:51773694 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.6600A>G (p.Pro2200=) single nucleotide variant not provided [RCV002645803] Chr15:51480104 [GRCh38]
Chr15:51772301 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.5865A>G (p.Val1955=) single nucleotide variant not provided [RCV002663565] Chr15:51481241 [GRCh38]
Chr15:51773438 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.4876C>T (p.Gln1626Ter) single nucleotide variant not provided [RCV002893998] Chr15:51491655 [GRCh38]
Chr15:51783852 [GRCh37]
Chr15:15q21.2		 pathogenic
NM_001378457.1(DMXL2):c.1961A>G (p.Asn654Ser) single nucleotide variant Inborn genetic diseases [RCV003085851]|not provided [RCV003072617] Chr15:51536519 [GRCh38]
Chr15:51828716 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.2888A>G (p.Asn963Ser) single nucleotide variant not provided [RCV002645769] Chr15:51502910 [GRCh38]
Chr15:51795107 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.7023G>A (p.Leu2341=) single nucleotide variant not provided [RCV002932370] Chr15:51474534 [GRCh38]
Chr15:51766731 [GRCh37]
Chr15:15q21.2		 benign
NM_001378457.1(DMXL2):c.1319G>A (p.Arg440Gln) single nucleotide variant Inborn genetic diseases [RCV002701930] Chr15:51538239 [GRCh38]
Chr15:51830436 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.5106T>C (p.Asp1702=) single nucleotide variant not provided [RCV002596368] Chr15:51488065 [GRCh38]
Chr15:51780262 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.5622T>A (p.Val1874=) single nucleotide variant not provided [RCV002933425] Chr15:51481484 [GRCh38]
Chr15:51773681 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.4260T>C (p.Tyr1420=) single nucleotide variant not provided [RCV003004993] Chr15:51498964 [GRCh38]
Chr15:51791161 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.9083A>G (p.Asn3028Ser) single nucleotide variant not provided [RCV002627196] Chr15:51449078 [GRCh38]
Chr15:51741275 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.5540A>T (p.His1847Leu) single nucleotide variant not provided [RCV002627283] Chr15:51481566 [GRCh38]
Chr15:51773763 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.710del (p.Gly237fs) deletion not provided [RCV002894232] Chr15:51547266 [GRCh38]
Chr15:51839463 [GRCh37]
Chr15:15q21.2		 pathogenic
NM_001378457.1(DMXL2):c.8447G>A (p.Arg2816Gln) single nucleotide variant not provided [RCV002576459] Chr15:51456145 [GRCh38]
Chr15:51748342 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.8031C>T (p.Val2677=) single nucleotide variant not provided [RCV002701552] Chr15:51458754 [GRCh38]
Chr15:51750951 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.5235G>A (p.Met1745Ile) single nucleotide variant not provided [RCV002853281] Chr15:51486320 [GRCh38]
Chr15:51778517 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.2069G>A (p.Ser690Asn) single nucleotide variant Inborn genetic diseases [RCV002826507] Chr15:51536411 [GRCh38]
Chr15:51828608 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.598A>G (p.Met200Val) single nucleotide variant not provided [RCV002627203] Chr15:51547378 [GRCh38]
Chr15:51839575 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.8750-19T>C single nucleotide variant not provided [RCV002875971] Chr15:51450365 [GRCh38]
Chr15:51742562 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.8170G>A (p.Gly2724Arg) single nucleotide variant not provided [RCV002626075] Chr15:51458534 [GRCh38]
Chr15:51750731 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.8487A>T (p.Ala2829=) single nucleotide variant not provided [RCV002667894] Chr15:51456105 [GRCh38]
Chr15:51748302 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.3202G>A (p.Val1068Met) single nucleotide variant not provided [RCV002627166] Chr15:51500022 [GRCh38]
Chr15:51792219 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.1477C>A (p.Arg493=) single nucleotide variant not provided [RCV002711386] Chr15:51537628 [GRCh38]
Chr15:51829825 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.5138T>A (p.Phe1713Tyr) single nucleotide variant not provided [RCV002625717] Chr15:51488033 [GRCh38]
Chr15:51780230 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.6077A>G (p.Glu2026Gly) single nucleotide variant not provided [RCV002851006] Chr15:51481029 [GRCh38]
Chr15:51773226 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.1766C>T (p.Pro589Leu) single nucleotide variant not provided [RCV003041970] Chr15:51536714 [GRCh38]
Chr15:51828911 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.69C>T (p.Val23=) single nucleotide variant not provided [RCV002741895] Chr15:51622477 [GRCh38]
Chr15:51914674 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.2102G>C (p.Gly701Ala) single nucleotide variant Inborn genetic diseases [RCV003365751]|not provided [RCV002594810] Chr15:51536378 [GRCh38]
Chr15:51828575 [GRCh37]
Chr15:15q21.2		 likely benign|uncertain significance
NM_001378457.1(DMXL2):c.1558C>T (p.Leu520=) single nucleotide variant not provided [RCV002593717] Chr15:51537547 [GRCh38]
Chr15:51829744 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.3268A>G (p.Ile1090Val) single nucleotide variant not provided [RCV002595107] Chr15:51499956 [GRCh38]
Chr15:51792153 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.3581A>G (p.Tyr1194Cys) single nucleotide variant Inborn genetic diseases [RCV002891524] Chr15:51499643 [GRCh38]
Chr15:51791840 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.2923A>G (p.Arg975Gly) single nucleotide variant not provided [RCV003083623] Chr15:51502875 [GRCh38]
Chr15:51795072 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.8234C>G (p.Thr2745Ser) single nucleotide variant not provided [RCV002574634] Chr15:51457431 [GRCh38]
Chr15:51749628 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.7031del (p.Leu2344fs) deletion not provided [RCV002872038] Chr15:51474526 [GRCh38]
Chr15:51766723 [GRCh37]
Chr15:15q21.2		 pathogenic
NM_001378457.1(DMXL2):c.4284A>G (p.Pro1428=) single nucleotide variant not provided [RCV002872501] Chr15:51498940 [GRCh38]
Chr15:51791137 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.6279T>C (p.Val2093=) single nucleotide variant not provided [RCV002642498] Chr15:51480827 [GRCh38]
Chr15:51773024 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.3836A>G (p.Lys1279Arg) single nucleotide variant Inborn genetic diseases [RCV002742402] Chr15:51499388 [GRCh38]
Chr15:51791585 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.3199A>G (p.Ile1067Val) single nucleotide variant not provided [RCV002595756] Chr15:51500025 [GRCh38]
Chr15:51792222 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.5823G>T (p.Leu1941=) single nucleotide variant not provided [RCV002801273] Chr15:51481283 [GRCh38]
Chr15:51773480 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.1322G>T (p.Gly441Val) single nucleotide variant not provided [RCV003082763] Chr15:51538236 [GRCh38]
Chr15:51830433 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.87+14G>C single nucleotide variant not provided [RCV002790065] Chr15:51622445 [GRCh38]
Chr15:51914642 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.2620_2621del (p.Glu874fs) deletion not provided [RCV002594373] Chr15:51514465..51514466 [GRCh38]
Chr15:51806662..51806663 [GRCh37]
Chr15:15q21.2		 pathogenic
NM_001378457.1(DMXL2):c.5954C>T (p.Ala1985Val) single nucleotide variant Inborn genetic diseases [RCV002698474] Chr15:51481152 [GRCh38]
Chr15:51773349 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.6308C>T (p.Ser2103Phe) single nucleotide variant not provided [RCV002741690] Chr15:51480798 [GRCh38]
Chr15:51772995 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.6849A>G (p.Gly2283=) single nucleotide variant not provided [RCV002852573] Chr15:51476704 [GRCh38]
Chr15:51768901 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.4177C>G (p.Arg1393Gly) single nucleotide variant not provided [RCV002593483] Chr15:51499047 [GRCh38]
Chr15:51791244 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.5546T>C (p.Leu1849Ser) single nucleotide variant Inborn genetic diseases [RCV002803405] Chr15:51481560 [GRCh38]
Chr15:51773757 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.264A>G (p.Ile88Met) single nucleotide variant not provided [RCV002801958] Chr15:51568508 [GRCh38]
Chr15:51860705 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.6371A>G (p.Tyr2124Cys) single nucleotide variant not provided [RCV002574248] Chr15:51480735 [GRCh38]
Chr15:51772932 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.1787C>T (p.Ser596Phe) single nucleotide variant Inborn genetic diseases [RCV002697401] Chr15:51536693 [GRCh38]
Chr15:51828890 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.7521-15C>A single nucleotide variant not provided [RCV003022299] Chr15:51465666 [GRCh38]
Chr15:51757863 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.1105+6G>T single nucleotide variant not provided [RCV002786235] Chr15:51542327 [GRCh38]
Chr15:51834524 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.535C>T (p.Pro179Ser) single nucleotide variant not provided [RCV002932803] Chr15:51563413 [GRCh38]
Chr15:51855610 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.8001T>C (p.Asp2667=) single nucleotide variant not provided [RCV002626780] Chr15:51458784 [GRCh38]
Chr15:51750981 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.3717A>G (p.Val1239=) single nucleotide variant not provided [RCV002871976] Chr15:51499507 [GRCh38]
Chr15:51791704 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.4252C>T (p.Arg1418Ter) single nucleotide variant not provided [RCV003023742] Chr15:51498972 [GRCh38]
Chr15:51791169 [GRCh37]
Chr15:15q21.2		 pathogenic
NM_001378457.1(DMXL2):c.7585A>G (p.Ile2529Val) single nucleotide variant not provided [RCV002625479] Chr15:51465587 [GRCh38]
Chr15:51757784 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.1942G>A (p.Gly648Ser) single nucleotide variant not provided [RCV002626793] Chr15:51536538 [GRCh38]
Chr15:51828735 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.6270T>A (p.His2090Gln) single nucleotide variant not provided [RCV002982329] Chr15:51480836 [GRCh38]
Chr15:51773033 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.8880C>G (p.Phe2960Leu) single nucleotide variant not provided [RCV002740915] Chr15:51450216 [GRCh38]
Chr15:51742413 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.4247G>A (p.Gly1416Asp) single nucleotide variant not provided [RCV003083485] Chr15:51498977 [GRCh38]
Chr15:51791174 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.2765-12T>G single nucleotide variant not provided [RCV002711168] Chr15:51503045 [GRCh38]
Chr15:51795242 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.8178A>C (p.Glu2726Asp) single nucleotide variant not provided [RCV003025671] Chr15:51458526 [GRCh38]
Chr15:51750723 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.1912C>G (p.Leu638Val) single nucleotide variant not provided [RCV002572607] Chr15:51536568 [GRCh38]
Chr15:51828765 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.8749+15A>G single nucleotide variant not provided [RCV002575643] Chr15:51451630 [GRCh38]
Chr15:51743827 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.2704A>G (p.Asn902Asp) single nucleotide variant not provided [RCV003043409] Chr15:51507194 [GRCh38]
Chr15:51799391 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.8604+11C>A single nucleotide variant not provided [RCV002914684] Chr15:51455140 [GRCh38]
Chr15:51747337 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.7113G>T (p.Arg2371=) single nucleotide variant not provided [RCV002954285] Chr15:51474444 [GRCh38]
Chr15:51766641 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.365-2A>C single nucleotide variant not provided [RCV003040856] Chr15:51564262 [GRCh38]
Chr15:51856459 [GRCh37]
Chr15:15q21.2		 likely pathogenic
NM_001378457.1(DMXL2):c.7626A>G (p.Pro2542=) single nucleotide variant not provided [RCV002745389] Chr15:51464857 [GRCh38]
Chr15:51757054 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.1990C>T (p.Leu664=) single nucleotide variant not provided [RCV002876485] Chr15:51536490 [GRCh38]
Chr15:51828687 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.8483A>G (p.Asn2828Ser) single nucleotide variant not provided [RCV002710347] Chr15:51456109 [GRCh38]
Chr15:51748306 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.2758T>C (p.Cys920Arg) single nucleotide variant not provided [RCV002765841] Chr15:51507140 [GRCh38]
Chr15:51799337 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.3073C>T (p.Arg1025Cys) single nucleotide variant Inborn genetic diseases [RCV002929992] Chr15:51500151 [GRCh38]
Chr15:51792348 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.449A>T (p.Asp150Val) single nucleotide variant not provided [RCV002790565] Chr15:51564176 [GRCh38]
Chr15:51856373 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.6897T>C (p.Arg2299=) single nucleotide variant not provided [RCV003057784] Chr15:51476656 [GRCh38]
Chr15:51768853 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.4777C>A (p.His1593Asn) single nucleotide variant not provided [RCV002595328] Chr15:51495030 [GRCh38]
Chr15:51787227 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.6345G>C (p.Met2115Ile) single nucleotide variant Inborn genetic diseases [RCV002743644] Chr15:51480761 [GRCh38]
Chr15:51772958 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.787G>A (p.Gly263Ser) single nucleotide variant not provided [RCV003039688] Chr15:51545726 [GRCh38]
Chr15:51837923 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.8390A>G (p.His2797Arg) single nucleotide variant not provided [RCV003056331] Chr15:51456317 [GRCh38]
Chr15:51748514 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.8043A>T (p.Glu2681Asp) single nucleotide variant Inborn genetic diseases [RCV002596113]|not provided [RCV002596112] Chr15:51458742 [GRCh38]
Chr15:51750939 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.7881G>A (p.Glu2627=) single nucleotide variant not provided [RCV002829642] Chr15:51463424 [GRCh38]
Chr15:51755621 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.2799A>G (p.Leu933=) single nucleotide variant not provided [RCV002766390] Chr15:51502999 [GRCh38]
Chr15:51795196 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.8541T>C (p.Asp2847=) single nucleotide variant not provided [RCV003003336] Chr15:51455214 [GRCh38]
Chr15:51747411 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.8199-16T>A single nucleotide variant not provided [RCV002593751] Chr15:51457482 [GRCh38]
Chr15:51749679 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.6654C>G (p.Val2218=) single nucleotide variant not provided [RCV002624369] Chr15:51480050 [GRCh38]
Chr15:51772247 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.6449A>G (p.Lys2150Arg) single nucleotide variant Inborn genetic diseases [RCV002916020] Chr15:51480657 [GRCh38]
Chr15:51772854 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.8778G>A (p.Thr2926=) single nucleotide variant not provided [RCV003084403] Chr15:51450318 [GRCh38]
Chr15:51742515 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.6216A>G (p.Gln2072=) single nucleotide variant not provided [RCV002890762] Chr15:51480890 [GRCh38]
Chr15:51773087 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.931-16T>G single nucleotide variant not provided [RCV003006516] Chr15:51542523 [GRCh38]
Chr15:51834720 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.1279G>A (p.Asp427Asn) single nucleotide variant not provided [RCV002958451] Chr15:51538279 [GRCh38]
Chr15:51830476 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.8967+12C>T single nucleotide variant not provided [RCV002985542] Chr15:51450117 [GRCh38]
Chr15:51742314 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.2764+16T>A single nucleotide variant not provided [RCV002572310] Chr15:51507118 [GRCh38]
Chr15:51799315 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.6725C>T (p.Thr2242Ile) single nucleotide variant not provided [RCV002663802] Chr15:51479979 [GRCh38]
Chr15:51772176 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.2912T>A (p.Ile971Asn) single nucleotide variant not provided [RCV002829111] Chr15:51502886 [GRCh38]
Chr15:51795083 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.6060A>T (p.Leu2020Phe) single nucleotide variant not provided [RCV002595888] Chr15:51481046 [GRCh38]
Chr15:51773243 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.257T>C (p.Leu86Ser) single nucleotide variant not provided [RCV002985421] Chr15:51568515 [GRCh38]
Chr15:51860712 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.1540C>T (p.Pro514Ser) single nucleotide variant Inborn genetic diseases [RCV002804487] Chr15:51537565 [GRCh38]
Chr15:51829762 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.5267G>A (p.Arg1756His) single nucleotide variant Inborn genetic diseases [RCV002767106] Chr15:51486288 [GRCh38]
Chr15:51778485 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.749G>A (p.Gly250Asp) single nucleotide variant not provided [RCV002791104] Chr15:51545764 [GRCh38]
Chr15:51837961 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.3240T>G (p.Gly1080=) single nucleotide variant not provided [RCV002830171] Chr15:51499984 [GRCh38]
Chr15:51792181 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.6377G>A (p.Arg2126His) single nucleotide variant not provided [RCV002572869] Chr15:51480729 [GRCh38]
Chr15:51772926 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.88-3_88-2insTTTTTTTTTTTTTTTTTTTTTTTTTTTT insertion not provided [RCV002829328] Chr15:51576183..51576184 [GRCh38]
Chr15:51868380..51868381 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.9164T>G (p.Leu3055Arg) single nucleotide variant not provided [RCV003024838] Chr15:51448997 [GRCh38]
Chr15:51741194 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.1147G>T (p.Asp383Tyr) single nucleotide variant not provided [RCV003022848] Chr15:51538411 [GRCh38]
Chr15:51830608 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.4955T>C (p.Val1652Ala) single nucleotide variant not provided [RCV002982654] Chr15:51488644 [GRCh38]
Chr15:51780841 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.2771C>A (p.Ala924Asp) single nucleotide variant Inborn genetic diseases [RCV002825974] Chr15:51503027 [GRCh38]
Chr15:51795224 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.3615C>G (p.Thr1205=) single nucleotide variant not provided [RCV002745426] Chr15:51499609 [GRCh38]
Chr15:51791806 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.7190G>C (p.Arg2397Pro) single nucleotide variant not provided [RCV002595069] Chr15:51474367 [GRCh38]
Chr15:51766564 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.4379C>G (p.Thr1460Arg) single nucleotide variant not provided [RCV002573742] Chr15:51498845 [GRCh38]
Chr15:51791042 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.5868_5870del (p.Ser1958del) deletion not provided [RCV003041908] Chr15:51481236..51481238 [GRCh38]
Chr15:51773433..51773435 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.8061A>G (p.Ala2687=) single nucleotide variant not provided [RCV002710800] Chr15:51458724 [GRCh38]
Chr15:51750921 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.7808+16T>C single nucleotide variant not provided [RCV002625562] Chr15:51464659 [GRCh38]
Chr15:51756856 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.5923A>G (p.Asn1975Asp) single nucleotide variant not provided [RCV003042815] Chr15:51481183 [GRCh38]
Chr15:51773380 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.7594C>G (p.Leu2532Val) single nucleotide variant not provided [RCV002642206] Chr15:51465578 [GRCh38]
Chr15:51757775 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.8076+9T>A single nucleotide variant not provided [RCV002700277] Chr15:51458700 [GRCh38]
Chr15:51750897 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.8282C>T (p.Pro2761Leu) single nucleotide variant not provided [RCV003022492] Chr15:51457383 [GRCh38]
Chr15:51749580 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.1896T>A (p.Ser632=) single nucleotide variant not provided [RCV002871966] Chr15:51536584 [GRCh38]
Chr15:51828781 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.3578T>C (p.Met1193Thr) single nucleotide variant not provided [RCV002917806] Chr15:51499646 [GRCh38]
Chr15:51791843 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.931-10T>C single nucleotide variant not provided [RCV002574840] Chr15:51542517 [GRCh38]
Chr15:51834714 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.7276G>A (p.Val2426Ile) single nucleotide variant not provided [RCV002643717] Chr15:51471339 [GRCh38]
Chr15:51763536 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.4248T>C (p.Gly1416=) single nucleotide variant not provided [RCV002663580] Chr15:51498976 [GRCh38]
Chr15:51791173 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.1378A>G (p.Thr460Ala) single nucleotide variant not provided [RCV003056218] Chr15:51537727 [GRCh38]
Chr15:51829924 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.569A>G (p.Asp190Gly) single nucleotide variant not provided [RCV003041906] Chr15:51547407 [GRCh38]
Chr15:51839604 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.790G>A (p.Val264Met) single nucleotide variant not provided [RCV002642305] Chr15:51545723 [GRCh38]
Chr15:51837920 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.3420C>A (p.Ser1140Arg) single nucleotide variant not provided [RCV002701140] Chr15:51499804 [GRCh38]
Chr15:51792001 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.934A>G (p.Ile312Val) single nucleotide variant Inborn genetic diseases [RCV002790346]|not provided [RCV002790345] Chr15:51542504 [GRCh38]
Chr15:51834701 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.6406G>A (p.Ala2136Thr) single nucleotide variant not provided [RCV003042687] Chr15:51480700 [GRCh38]
Chr15:51772897 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.5158C>T (p.Arg1720Cys) single nucleotide variant not provided [RCV002626416] Chr15:51488013 [GRCh38]
Chr15:51780210 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.2512G>A (p.Ala838Thr) single nucleotide variant not provided [RCV002982405] Chr15:51517092 [GRCh38]
Chr15:51809289 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.716C>G (p.Ser239Trp) single nucleotide variant Inborn genetic diseases [RCV002742622] Chr15:51547260 [GRCh38]
Chr15:51839457 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.4735C>T (p.Leu1579Phe) single nucleotide variant not provided [RCV002985224] Chr15:51495072 [GRCh38]
Chr15:51787269 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.6756+20C>G single nucleotide variant not provided [RCV002786654] Chr15:51479928 [GRCh38]
Chr15:51772125 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.4335T>G (p.Ile1445Met) single nucleotide variant not provided [RCV003025623] Chr15:51498889 [GRCh38]
Chr15:51791086 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.4500A>G (p.Gln1500=) single nucleotide variant not provided [RCV002574448] Chr15:51498724 [GRCh38]
Chr15:51790921 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.460C>G (p.Pro154Ala) single nucleotide variant not provided [RCV002667032] Chr15:51564165 [GRCh38]
Chr15:51856362 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.3375T>G (p.Leu1125=) single nucleotide variant not provided [RCV002853386] Chr15:51499849 [GRCh38]
Chr15:51792046 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.5112G>A (p.Trp1704Ter) single nucleotide variant not provided [RCV002889973] Chr15:51488059 [GRCh38]
Chr15:51780256 [GRCh37]
Chr15:15q21.2		 pathogenic
NM_001378457.1(DMXL2):c.5590A>G (p.Thr1864Ala) single nucleotide variant not provided [RCV002623884] Chr15:51481516 [GRCh38]
Chr15:51773713 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.931-15A>G single nucleotide variant not provided [RCV002790641] Chr15:51542522 [GRCh38]
Chr15:51834719 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.2114A>C (p.Gln705Pro) single nucleotide variant DMXL2-related condition [RCV003973677]|not provided [RCV003085184] Chr15:51536366 [GRCh38]
Chr15:51828563 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.5674C>T (p.His1892Tyr) single nucleotide variant Inborn genetic diseases [RCV002745072] Chr15:51481432 [GRCh38]
Chr15:51773629 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.7214-10C>A single nucleotide variant not provided [RCV002595857] Chr15:51471411 [GRCh38]
Chr15:51763608 [GRCh37]
Chr15:15q21.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_001378457.1(DMXL2):c.5492A>G (p.Lys1831Arg) single nucleotide variant not provided [RCV002700420] Chr15:51481614 [GRCh38]
Chr15:51773811 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.6960G>A (p.Trp2320Ter) single nucleotide variant not provided [RCV002801216] Chr15:51476593 [GRCh38]
Chr15:51768790 [GRCh37]
Chr15:15q21.2		 pathogenic
NM_001378457.1(DMXL2):c.2526+7A>G single nucleotide variant not provided [RCV002966673] Chr15:51517071 [GRCh38]
Chr15:51809268 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.4872C>A (p.Asp1624Glu) single nucleotide variant not provided [RCV002632776] Chr15:51491659 [GRCh38]
Chr15:51783856 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.2314+6T>G single nucleotide variant Developmental and epileptic encephalopathy, 81 [RCV003458903]|not provided [RCV002651760] Chr15:51536160 [GRCh38]
Chr15:51828357 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.88-3dup duplication not provided [RCV002900104] Chr15:51576183..51576184 [GRCh38]
Chr15:51868380..51868381 [GRCh37]
Chr15:15q21.2		 benign
NM_001378457.1(DMXL2):c.985G>A (p.Val329Ile) single nucleotide variant not provided [RCV002581436] Chr15:51542453 [GRCh38]
Chr15:51834650 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.3113A>G (p.Asn1038Ser) single nucleotide variant not provided [RCV002941875] Chr15:51500111 [GRCh38]
Chr15:51792308 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.8127T>C (p.Leu2709=) single nucleotide variant not provided [RCV002581054] Chr15:51458577 [GRCh38]
Chr15:51750774 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.3694C>G (p.Leu1232Val) single nucleotide variant not provided [RCV003031717] Chr15:51499530 [GRCh38]
Chr15:51791727 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.2108C>T (p.Ser703Leu) single nucleotide variant not provided [RCV002966205] Chr15:51536372 [GRCh38]
Chr15:51828569 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.5093A>G (p.Asn1698Ser) single nucleotide variant not provided [RCV002633081] Chr15:51488078 [GRCh38]
Chr15:51780275 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.8629A>G (p.Thr2877Ala) single nucleotide variant not provided [RCV002811884] Chr15:51453617 [GRCh38]
Chr15:51745814 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.2992+2T>C single nucleotide variant not provided [RCV002720042] Chr15:51502804 [GRCh38]
Chr15:51795001 [GRCh37]
Chr15:15q21.2		 likely pathogenic
NM_001378457.1(DMXL2):c.669A>G (p.Gln223=) single nucleotide variant not provided [RCV003030983] Chr15:51547307 [GRCh38]
Chr15:51839504 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.5862T>C (p.Asn1954=) single nucleotide variant not provided [RCV002715628] Chr15:51481244 [GRCh38]
Chr15:51773441 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.3332C>T (p.Ser1111Phe) single nucleotide variant not provided [RCV002834660] Chr15:51499892 [GRCh38]
Chr15:51792089 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.4444A>G (p.Ile1482Val) single nucleotide variant not provided [RCV003046573] Chr15:51498780 [GRCh38]
Chr15:51790977 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.6638C>T (p.Ala2213Val) single nucleotide variant not provided [RCV002630319] Chr15:51480066 [GRCh38]
Chr15:51772263 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.9063G>A (p.Gln3021=) single nucleotide variant not provided [RCV003046581] Chr15:51449098 [GRCh38]
Chr15:51741295 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.8399-11T>A single nucleotide variant not provided [RCV002942014] Chr15:51456204 [GRCh38]
Chr15:51748401 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.8121A>G (p.Gln2707=) single nucleotide variant not provided [RCV003031005] Chr15:51458583 [GRCh38]
Chr15:51750780 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.4488A>C (p.Ile1496=) single nucleotide variant not provided [RCV002966586] Chr15:51498736 [GRCh38]
Chr15:51790933 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.1642G>A (p.Val548Ile) single nucleotide variant not provided [RCV002601245] Chr15:51536838 [GRCh38]
Chr15:51829035 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.5715C>T (p.Leu1905=) single nucleotide variant not provided [RCV002597814] Chr15:51481391 [GRCh38]
Chr15:51773588 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.4672+15T>G single nucleotide variant not provided [RCV002577880] Chr15:51498537 [GRCh38]
Chr15:51790734 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.7139G>A (p.Arg2380Gln) single nucleotide variant DMXL2-related condition [RCV003418684]|Inborn genetic diseases [RCV002967372]|not provided [RCV002967371] Chr15:51474418 [GRCh38]
Chr15:51766615 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.4173T>C (p.Thr1391=) single nucleotide variant not provided [RCV002898553] Chr15:51499051 [GRCh38]
Chr15:51791248 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.4954-20A>G single nucleotide variant not provided [RCV002676311] Chr15:51488665 [GRCh38]
Chr15:51780862 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.1878C>T (p.Val626=) single nucleotide variant not provided [RCV002630802] Chr15:51536602 [GRCh38]
Chr15:51828799 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.2719C>T (p.Leu907=) single nucleotide variant not provided [RCV002581720] Chr15:51507179 [GRCh38]
Chr15:51799376 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.589T>C (p.Trp197Arg) single nucleotide variant not provided [RCV002833506] Chr15:51547387 [GRCh38]
Chr15:51839584 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.2020C>G (p.Leu674Val) single nucleotide variant not provided [RCV002716391] Chr15:51536460 [GRCh38]
Chr15:51828657 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.8604+15A>G single nucleotide variant not provided [RCV002806086] Chr15:51455136 [GRCh38]
Chr15:51747333 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.2669A>T (p.Glu890Val) single nucleotide variant Inborn genetic diseases [RCV003269225]|not provided [RCV002646487] Chr15:51507229 [GRCh38]
Chr15:51799426 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.4212T>C (p.Ser1404=) single nucleotide variant not provided [RCV002770562] Chr15:51499012 [GRCh38]
Chr15:51791209 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.1353C>T (p.Ser451=) single nucleotide variant not provided [RCV002597709] Chr15:51537752 [GRCh38]
Chr15:51829949 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.8750-20_8750-19del microsatellite not provided [RCV003008484] Chr15:51450365..51450366 [GRCh38]
Chr15:51742562..51742563 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.7388C>A (p.Ala2463Glu) single nucleotide variant not provided [RCV003043943] Chr15:51471227 [GRCh38]
Chr15:51763424 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.1535T>C (p.Ile512Thr) single nucleotide variant not provided [RCV002877518] Chr15:51537570 [GRCh38]
Chr15:51829767 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.88-21_88-20insC insertion not provided [RCV002627529] Chr15:51576201..51576202 [GRCh38]
Chr15:51868398..51868399 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.7359C>T (p.Pro2453=) single nucleotide variant not provided [RCV002806100] Chr15:51471256 [GRCh38]
Chr15:51763453 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.409C>A (p.Pro137Thr) single nucleotide variant Inborn genetic diseases [RCV002628274]|not provided [RCV002628273] Chr15:51564216 [GRCh38]
Chr15:51856413 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.8757G>T (p.Thr2919=) single nucleotide variant not provided [RCV002834821] Chr15:51450339 [GRCh38]
Chr15:51742536 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.5207A>G (p.Asp1736Gly) single nucleotide variant not provided [RCV002834969] Chr15:51487964 [GRCh38]
Chr15:51780161 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.7437T>G (p.Asp2479Glu) single nucleotide variant not provided [RCV003028313] Chr15:51466267 [GRCh38]
Chr15:51758464 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.2274T>C (p.Asn758=) single nucleotide variant not provided [RCV002717084] Chr15:51536206 [GRCh38]
Chr15:51828403 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.8183A>T (p.Asp2728Val) single nucleotide variant not provided [RCV002806327] Chr15:51458521 [GRCh38]
Chr15:51750718 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.285+15A>G single nucleotide variant not provided [RCV002578219] Chr15:51568472 [GRCh38]
Chr15:51860669 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.2594A>C (p.Lys865Thr) single nucleotide variant not provided [RCV002962144] Chr15:51514492 [GRCh38]
Chr15:51806689 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.4245T>C (p.Asp1415=) single nucleotide variant not provided [RCV002671164] Chr15:51498979 [GRCh38]
Chr15:51791176 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.2436+14_2436+16del microsatellite not provided [RCV002937653] Chr15:51535647..51535649 [GRCh38]
Chr15:51827844..51827846 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.1721C>T (p.Ser574Phe) single nucleotide variant not provided [RCV002600153] Chr15:51536759 [GRCh38]
Chr15:51828956 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.8940C>T (p.Thr2980=) single nucleotide variant not provided [RCV002715439] Chr15:51450156 [GRCh38]
Chr15:51742353 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.7220C>T (p.Pro2407Leu) single nucleotide variant not provided [RCV002577847] Chr15:51471395 [GRCh38]
Chr15:51763592 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.5909A>T (p.Asp1970Val) single nucleotide variant not provided [RCV002716289] Chr15:51481197 [GRCh38]
Chr15:51773394 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.7896T>C (p.Tyr2632=) single nucleotide variant not provided [RCV003045796] Chr15:51463409 [GRCh38]
Chr15:51755606 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.452A>G (p.Asn151Ser) single nucleotide variant not provided [RCV002579770] Chr15:51564173 [GRCh38]
Chr15:51856370 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.1618-4T>G single nucleotide variant not provided [RCV003063171] Chr15:51536866 [GRCh38]
Chr15:51829063 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.2835T>C (p.Ser945=) single nucleotide variant not provided [RCV002770565] Chr15:51502963 [GRCh38]
Chr15:51795160 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.1106-15_1106-14del microsatellite not provided [RCV002876867] Chr15:51538466..51538467 [GRCh38]
Chr15:51830663..51830664 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.6343A>G (p.Met2115Val) single nucleotide variant not provided [RCV002715695] Chr15:51480763 [GRCh38]
Chr15:51772960 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.1370A>C (p.Glu457Ala) single nucleotide variant not provided [RCV002833655] Chr15:51537735 [GRCh38]
Chr15:51829932 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.88-6_88-3del deletion DMXL2-related condition [RCV003916629]|not provided [RCV002922869] Chr15:51576184..51576187 [GRCh38]
Chr15:51868381..51868384 [GRCh37]
Chr15:15q21.2		 benign|likely benign
NM_001378457.1(DMXL2):c.57C>T (p.Ser19=) single nucleotide variant not provided [RCV002671697] Chr15:51622489 [GRCh38]
Chr15:51914686 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.7393-15T>C single nucleotide variant not provided [RCV002577502] Chr15:51466326 [GRCh38]
Chr15:51758523 [GRCh37]
Chr15:15q21.2		 likely benign|conflicting interpretations of pathogenicity
NM_001378457.1(DMXL2):c.8765A>G (p.Asp2922Gly) single nucleotide variant Inborn genetic diseases [RCV002653234]|not provided [RCV002627648] Chr15:51450331 [GRCh38]
Chr15:51742528 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.7689T>G (p.Asp2563Glu) single nucleotide variant not provided [RCV002792131] Chr15:51464794 [GRCh38]
Chr15:51756991 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.7870G>T (p.Val2624Phe) single nucleotide variant not provided [RCV003008442] Chr15:51463435 [GRCh38]
Chr15:51755632 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.8877G>C (p.Thr2959=) single nucleotide variant not provided [RCV002961997] Chr15:51450219 [GRCh38]
Chr15:51742416 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.5545T>G (p.Leu1849Val) single nucleotide variant Inborn genetic diseases [RCV002919985] Chr15:51481561 [GRCh38]
Chr15:51773758 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.5360G>T (p.Ser1787Ile) single nucleotide variant not provided [RCV003086091] Chr15:51486195 [GRCh38]
Chr15:51778392 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.746+13A>T single nucleotide variant not provided [RCV002670928] Chr15:51547217 [GRCh38]
Chr15:51839414 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.8502A>G (p.Leu2834=) single nucleotide variant not provided [RCV002580274] Chr15:51456090 [GRCh38]
Chr15:51748287 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.5720A>G (p.Lys1907Arg) single nucleotide variant Inborn genetic diseases [RCV003167683]|not provided [RCV002716926] Chr15:51481386 [GRCh38]
Chr15:51773583 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.6709A>G (p.Ile2237Val) single nucleotide variant not provided [RCV002600083] Chr15:51479995 [GRCh38]
Chr15:51772192 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.4003G>C (p.Glu1335Gln) single nucleotide variant not provided [RCV003009628] Chr15:51499221 [GRCh38]
Chr15:51791418 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.5114G>A (p.Arg1705Gln) single nucleotide variant not provided [RCV002599684] Chr15:51488057 [GRCh38]
Chr15:51780254 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.7519A>G (p.Ser2507Gly) single nucleotide variant not provided [RCV003029820] Chr15:51466185 [GRCh38]
Chr15:51758382 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.214-18G>A single nucleotide variant not provided [RCV002577041] Chr15:51568576 [GRCh38]
Chr15:51860773 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.1182C>T (p.Asn394=) single nucleotide variant not provided [RCV002600857] Chr15:51538376 [GRCh38]
Chr15:51830573 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.3419G>C (p.Ser1140Thr) single nucleotide variant not provided [RCV002580844] Chr15:51499805 [GRCh38]
Chr15:51792002 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.8398+18A>C single nucleotide variant not provided [RCV002672128] Chr15:51456291 [GRCh38]
Chr15:51748488 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.8587A>G (p.Asn2863Asp) single nucleotide variant Inborn genetic diseases [RCV002896655] Chr15:51455168 [GRCh38]
Chr15:51747365 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.5218-10A>G single nucleotide variant not provided [RCV002650166] Chr15:51486347 [GRCh38]
Chr15:51778544 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.1721C>G (p.Ser574Cys) single nucleotide variant not provided [RCV002646681] Chr15:51536759 [GRCh38]
Chr15:51828956 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.7268G>T (p.Arg2423Ile) single nucleotide variant not provided [RCV002832948] Chr15:51471347 [GRCh38]
Chr15:51763544 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.3490A>T (p.Asn1164Tyr) single nucleotide variant Inborn genetic diseases [RCV003382897]|not provided [RCV002578460] Chr15:51499734 [GRCh38]
Chr15:51791931 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.749G>C (p.Gly250Ala) single nucleotide variant not provided [RCV002811626] Chr15:51545764 [GRCh38]
Chr15:51837961 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.1421C>T (p.Pro474Leu) single nucleotide variant not provided [RCV002601942] Chr15:51537684 [GRCh38]
Chr15:51829881 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.4739T>A (p.Leu1580Ter) single nucleotide variant not provided [RCV002834743] Chr15:51495068 [GRCh38]
Chr15:51787265 [GRCh37]
Chr15:15q21.2		 pathogenic
NM_001378457.1(DMXL2):c.1709C>G (p.Ala570Gly) single nucleotide variant not provided [RCV002649966] Chr15:51536771 [GRCh38]
Chr15:51828968 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.3917T>C (p.Leu1306Pro) single nucleotide variant not provided [RCV002600308] Chr15:51499307 [GRCh38]
Chr15:51791504 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.5602A>G (p.Lys1868Glu) single nucleotide variant not provided [RCV002577147] Chr15:51481504 [GRCh38]
Chr15:51773701 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.698G>A (p.Arg233Gln) single nucleotide variant not provided [RCV002598097] Chr15:51547278 [GRCh38]
Chr15:51839475 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.4997C>T (p.Ala1666Val) single nucleotide variant not provided [RCV002770848] Chr15:51488602 [GRCh38]
Chr15:51780799 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.2527-20A>G single nucleotide variant not provided [RCV002649386] Chr15:51514579 [GRCh38]
Chr15:51806776 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.6351C>T (p.Asp2117=) single nucleotide variant not provided [RCV003029960] Chr15:51480755 [GRCh38]
Chr15:51772952 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.5483-5T>C single nucleotide variant not provided [RCV003045928] Chr15:51481628 [GRCh38]
Chr15:51773825 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.2437-9T>A single nucleotide variant not provided [RCV003047443] Chr15:51517176 [GRCh38]
Chr15:51809373 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.795C>T (p.Cys265=) single nucleotide variant not provided [RCV002601506] Chr15:51545718 [GRCh38]
Chr15:51837915 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.4319A>G (p.Asp1440Gly) single nucleotide variant Inborn genetic diseases [RCV003090519]|not provided [RCV003087344] Chr15:51498905 [GRCh38]
Chr15:51791102 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.6016A>C (p.Lys2006Gln) single nucleotide variant not provided [RCV003061995] Chr15:51481090 [GRCh38]
Chr15:51773287 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.421G>A (p.Asp141Asn) single nucleotide variant not provided [RCV002806972] Chr15:51564204 [GRCh38]
Chr15:51856401 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.7214-14C>T single nucleotide variant not provided [RCV002833080] Chr15:51471415 [GRCh38]
Chr15:51763612 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.5457A>G (p.Thr1819=) single nucleotide variant not provided [RCV002937530] Chr15:51486098 [GRCh38]
Chr15:51778295 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.500+16T>G single nucleotide variant not provided [RCV002937541] Chr15:51564109 [GRCh38]
Chr15:51856306 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.809A>T (p.Glu270Val) single nucleotide variant not provided [RCV003046891] Chr15:51545704 [GRCh38]
Chr15:51837901 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.9172C>T (p.Leu3058=) single nucleotide variant not provided [RCV002602121] Chr15:51448989 [GRCh38]
Chr15:51741186 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.3437_3440del (p.Phe1146fs) deletion not provided [RCV003048992] Chr15:51499784..51499787 [GRCh38]
Chr15:51791981..51791984 [GRCh37]
Chr15:15q21.2		 pathogenic
NM_001378457.1(DMXL2):c.7365del (p.Ser2456fs) deletion not provided [RCV003043896] Chr15:51471250 [GRCh38]
Chr15:51763447 [GRCh37]
Chr15:15q21.2		 pathogenic
NM_001378457.1(DMXL2):c.8099T>C (p.Leu2700Ser) single nucleotide variant not provided [RCV002670920] Chr15:51458605 [GRCh38]
Chr15:51750802 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.87+13C>T single nucleotide variant not provided [RCV003029487] Chr15:51622446 [GRCh38]
Chr15:51914643 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.3190A>G (p.Thr1064Ala) single nucleotide variant not provided [RCV002631811] Chr15:51500034 [GRCh38]
Chr15:51792231 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.7391A>C (p.Lys2464Thr) single nucleotide variant not provided [RCV003031217] Chr15:51471224 [GRCh38]
Chr15:51763421 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.4730C>T (p.Thr1577Ile) single nucleotide variant Inborn genetic diseases [RCV002792318] Chr15:51495077 [GRCh38]
Chr15:51787274 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.9027G>A (p.Gln3009=) single nucleotide variant not provided [RCV002899152] Chr15:51449134 [GRCh38]
Chr15:51741331 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.5709G>A (p.Glu1903=) single nucleotide variant not provided [RCV002899660] Chr15:51481397 [GRCh38]
Chr15:51773594 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.7278C>T (p.Val2426=) single nucleotide variant not provided [RCV003031692] Chr15:51471337 [GRCh38]
Chr15:51763534 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.364+18T>G single nucleotide variant not provided [RCV002806985] Chr15:51565070 [GRCh38]
Chr15:51857267 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.8967+13A>G single nucleotide variant not provided [RCV002600942] Chr15:51450116 [GRCh38]
Chr15:51742313 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.7567G>A (p.Val2523Ile) single nucleotide variant not provided [RCV002602712] Chr15:51465605 [GRCh38]
Chr15:51757802 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.2851A>G (p.Ser951Gly) single nucleotide variant not provided [RCV002806999] Chr15:51502947 [GRCh38]
Chr15:51795144 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.5428C>T (p.Arg1810Ter) single nucleotide variant not provided [RCV002671290] Chr15:51486127 [GRCh38]
Chr15:51778324 [GRCh37]
Chr15:15q21.2		 pathogenic
NM_001378457.1(DMXL2):c.4953+18G>T single nucleotide variant not provided [RCV002646061] Chr15:51491560 [GRCh38]
Chr15:51783757 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.8795C>T (p.Pro2932Leu) single nucleotide variant not provided [RCV002646521] Chr15:51450301 [GRCh38]
Chr15:51742498 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.1346-15T>G single nucleotide variant not provided [RCV002598093] Chr15:51537774 [GRCh38]
Chr15:51829971 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.7521-12C>T single nucleotide variant not provided [RCV002630286] Chr15:51465663 [GRCh38]
Chr15:51757860 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.8604+13A>C single nucleotide variant not provided [RCV002810901] Chr15:51455138 [GRCh38]
Chr15:51747335 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.7878A>T (p.Gln2626His) single nucleotide variant Inborn genetic diseases [RCV002831539] Chr15:51463427 [GRCh38]
Chr15:51755624 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.5619T>C (p.Phe1873=) single nucleotide variant not provided [RCV003009666] Chr15:51481487 [GRCh38]
Chr15:51773684 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.516A>G (p.Val172=) single nucleotide variant not provided [RCV003028303] Chr15:51563432 [GRCh38]
Chr15:51855629 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.5803C>T (p.Pro1935Ser) single nucleotide variant Inborn genetic diseases [RCV002717717] Chr15:51481303 [GRCh38]
Chr15:51773500 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.8865G>A (p.Gln2955=) single nucleotide variant not provided [RCV002716272] Chr15:51450231 [GRCh38]
Chr15:51742428 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.1617+19A>G single nucleotide variant not provided [RCV002811852] Chr15:51537469 [GRCh38]
Chr15:51829666 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.7709C>G (p.Pro2570Arg) single nucleotide variant not provided [RCV002962056] Chr15:51464774 [GRCh38]
Chr15:51756971 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.3185G>T (p.Ser1062Ile) single nucleotide variant not provided [RCV002833889] Chr15:51500039 [GRCh38]
Chr15:51792236 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.699A>C (p.Arg233=) single nucleotide variant not provided [RCV002832943] Chr15:51547277 [GRCh38]
Chr15:51839474 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.4233C>T (p.Thr1411=) single nucleotide variant not provided [RCV002628844] Chr15:51498991 [GRCh38]
Chr15:51791188 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.4525G>A (p.Glu1509Lys) single nucleotide variant not provided [RCV002577861] Chr15:51498699 [GRCh38]
Chr15:51790896 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.3517T>G (p.Trp1173Gly) single nucleotide variant not provided [RCV002922510] Chr15:51499707 [GRCh38]
Chr15:51791904 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.9120A>G (p.Lys3040=) single nucleotide variant not provided [RCV002578881] Chr15:51449041 [GRCh38]
Chr15:51741238 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.5879A>G (p.Tyr1960Cys) single nucleotide variant not provided [RCV003049097] Chr15:51481227 [GRCh38]
Chr15:51773424 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.4645G>C (p.Asp1549His) single nucleotide variant not provided [RCV003028824] Chr15:51498579 [GRCh38]
Chr15:51790776 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.2659C>T (p.Pro887Ser) single nucleotide variant not provided [RCV002598832] Chr15:51507239 [GRCh38]
Chr15:51799436 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.8399-15T>C single nucleotide variant not provided [RCV002671454] Chr15:51456208 [GRCh38]
Chr15:51748405 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.2851A>C (p.Ser951Arg) single nucleotide variant not provided [RCV003087284] Chr15:51502947 [GRCh38]
Chr15:51795144 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.9080del (p.Gly3027fs) deletion not provided [RCV002833599] Chr15:51449081 [GRCh38]
Chr15:51741278 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.2847T>G (p.Ser949=) single nucleotide variant not provided [RCV002649842] Chr15:51502951 [GRCh38]
Chr15:51795148 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.568-15C>G single nucleotide variant not provided [RCV003047253] Chr15:51547423 [GRCh38]
Chr15:51839620 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.2625A>C (p.Ile875=) single nucleotide variant not provided [RCV002632225] Chr15:51514461 [GRCh38]
Chr15:51806658 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.2284C>T (p.Leu762Phe) single nucleotide variant Inborn genetic diseases [RCV002878072] Chr15:51536196 [GRCh38]
Chr15:51828393 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.3893A>G (p.His1298Arg) single nucleotide variant not provided [RCV002720777] Chr15:51499331 [GRCh38]
Chr15:51791528 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.1791A>G (p.Arg597=) single nucleotide variant not provided [RCV003043754] Chr15:51536689 [GRCh38]
Chr15:51828886 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.6964+3G>A single nucleotide variant not provided [RCV002671969] Chr15:51476586 [GRCh38]
Chr15:51768783 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.4490A>T (p.Asn1497Ile) single nucleotide variant not provided [RCV003029432] Chr15:51498734 [GRCh38]
Chr15:51790931 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.2506C>T (p.Leu836Phe) single nucleotide variant not provided [RCV002722045] Chr15:51517098 [GRCh38]
Chr15:51809295 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.1662T>C (p.Asp554=) single nucleotide variant not provided [RCV003051518] Chr15:51536818 [GRCh38]
Chr15:51829015 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.5256G>A (p.Met1752Ile) single nucleotide variant not provided [RCV002583194] Chr15:51486299 [GRCh38]
Chr15:51778496 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.8868C>T (p.Leu2956=) single nucleotide variant not provided [RCV002653736] Chr15:51450228 [GRCh38]
Chr15:51742425 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.3616A>C (p.Asn1206His) single nucleotide variant not provided [RCV003032037] Chr15:51499608 [GRCh38]
Chr15:51791805 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.4261A>G (p.Thr1421Ala) single nucleotide variant not provided [RCV002721658] Chr15:51498963 [GRCh38]
Chr15:51791160 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.4140A>G (p.Ala1380=) single nucleotide variant not provided [RCV002605375] Chr15:51499084 [GRCh38]
Chr15:51791281 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.8052G>T (p.Met2684Ile) single nucleotide variant not provided [RCV003050854] Chr15:51458733 [GRCh38]
Chr15:51750930 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.7808+19T>G single nucleotide variant not provided [RCV002604938] Chr15:51464656 [GRCh38]
Chr15:51756853 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.2527-11del deletion not provided [RCV002654168] Chr15:51514570 [GRCh38]
Chr15:51806767 [GRCh37]
Chr15:15q21.2		 benign
NM_001378457.1(DMXL2):c.1456C>T (p.Leu486=) single nucleotide variant not provided [RCV002814947] Chr15:51537649 [GRCh38]
Chr15:51829846 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.501-12T>G single nucleotide variant not provided [RCV002605639] Chr15:51563459 [GRCh38]
Chr15:51855656 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.8399-7G>A single nucleotide variant not provided [RCV002605649] Chr15:51456200 [GRCh38]
Chr15:51748397 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.1654T>C (p.Ser552Pro) single nucleotide variant not provided [RCV002658471] Chr15:51536826 [GRCh38]
Chr15:51829023 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.8335G>A (p.Val2779Met) single nucleotide variant not provided [RCV002814373] Chr15:51457330 [GRCh38]
Chr15:51749527 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.6437C>T (p.Ser2146Leu) single nucleotide variant not provided [RCV002942432] Chr15:51480669 [GRCh38]
Chr15:51772866 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.6912A>C (p.Thr2304=) single nucleotide variant not provided [RCV003050458] Chr15:51476641 [GRCh38]
Chr15:51768838 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.4397A>G (p.Asp1466Gly) single nucleotide variant not provided [RCV002725583] Chr15:51498827 [GRCh38]
Chr15:51791024 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.9015A>C (p.Glu3005Asp) single nucleotide variant not provided [RCV002653583] Chr15:51449146 [GRCh38]
Chr15:51741343 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.5917C>T (p.Pro1973Ser) single nucleotide variant not provided [RCV002583140] Chr15:51481189 [GRCh38]
Chr15:51773386 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.501-17A>T single nucleotide variant not provided [RCV002583252] Chr15:51563464 [GRCh38]
Chr15:51855661 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.8457A>G (p.Gln2819=) single nucleotide variant not provided [RCV002725778] Chr15:51456135 [GRCh38]
Chr15:51748332 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.5109A>G (p.Arg1703=) single nucleotide variant not provided [RCV002583330] Chr15:51488062 [GRCh38]
Chr15:51780259 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.8968-36_8968-8dup duplication not provided [RCV002584929] Chr15:51449200..51449201 [GRCh38]
Chr15:51741397..51741398 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.8274G>A (p.Gln2758=) single nucleotide variant not provided [RCV002604181] Chr15:51457391 [GRCh38]
Chr15:51749588 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.746+17A>G single nucleotide variant not provided [RCV002654490] Chr15:51547213 [GRCh38]
Chr15:51839410 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.9134C>T (p.Pro3045Leu) single nucleotide variant not provided [RCV002583448] Chr15:51449027 [GRCh38]
Chr15:51741224 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.537T>C (p.Pro179=) single nucleotide variant not provided [RCV003069404] Chr15:51563411 [GRCh38]
Chr15:51855608 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.2947G>C (p.Asp983His) single nucleotide variant not provided [RCV002943471] Chr15:51502851 [GRCh38]
Chr15:51795048 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.887C>T (p.Ser296Phe) single nucleotide variant not provided [RCV002606391] Chr15:51545626 [GRCh38]
Chr15:51837823 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.7196A>G (p.Gln2399Arg) single nucleotide variant not provided [RCV002609272] Chr15:51474361 [GRCh38]
Chr15:51766558 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.4475A>G (p.Lys1492Arg) single nucleotide variant Hearing loss, autosomal dominant 71 [RCV003148499] Chr15:51498749 [GRCh38]
Chr15:51790946 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.2650C>T (p.Arg884Cys) single nucleotide variant not provided [RCV002584158] Chr15:51507248 [GRCh38]
Chr15:51799445 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.642A>C (p.Glu214Asp) single nucleotide variant not provided [RCV002606502] Chr15:51547334 [GRCh38]
Chr15:51839531 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.1463C>T (p.Thr488Met) single nucleotide variant not provided [RCV003070354] Chr15:51537642 [GRCh38]
Chr15:51829839 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.5610GAA[1] (p.Lys1871del) microsatellite not provided [RCV002604426] Chr15:51481491..51481493 [GRCh38]
Chr15:51773688..51773690 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.73G>C (p.Asp25His) single nucleotide variant not provided [RCV002609787] Chr15:51622473 [GRCh38]
Chr15:51914670 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.2923A>C (p.Arg975=) single nucleotide variant not provided [RCV002609810] Chr15:51502875 [GRCh38]
Chr15:51795072 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.325T>C (p.Leu109=) single nucleotide variant not provided [RCV002635538] Chr15:51565127 [GRCh38]
Chr15:51857324 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.3265C>G (p.Pro1089Ala) single nucleotide variant not provided [RCV002605821] Chr15:51499959 [GRCh38]
Chr15:51792156 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.8386G>A (p.Val2796Ile) single nucleotide variant not provided [RCV002586967] Chr15:51456321 [GRCh38]
Chr15:51748518 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.1330A>G (p.Met444Val) single nucleotide variant not provided [RCV002654235] Chr15:51538228 [GRCh38]
Chr15:51830425 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.6319_6320del (p.Glu2106_Ser2107insTer) microsatellite not provided [RCV003051917] Chr15:51480786..51480787 [GRCh38]
Chr15:51772983..51772984 [GRCh37]
Chr15:15q21.2		 pathogenic
NM_001378457.1(DMXL2):c.1243T>G (p.Ser415Ala) single nucleotide variant not provided [RCV002610154] Chr15:51538315 [GRCh38]
Chr15:51830512 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.3170_3172del (p.Glu1057del) deletion not provided [RCV002603487] Chr15:51500052..51500054 [GRCh38]
Chr15:51792249..51792251 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.278G>T (p.Arg93Ile) single nucleotide variant not provided [RCV002608723] Chr15:51568494 [GRCh38]
Chr15:51860691 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.8605-4G>A single nucleotide variant not provided [RCV002583810] Chr15:51453645 [GRCh38]
Chr15:51745842 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.7242T>C (p.Asp2414=) single nucleotide variant not provided [RCV002610365] Chr15:51471373 [GRCh38]
Chr15:51763570 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.5716T>G (p.Ser1906Ala) single nucleotide variant Inborn genetic diseases [RCV002722991] Chr15:51481390 [GRCh38]
Chr15:51773587 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.370A>G (p.Arg124Gly) single nucleotide variant Inborn genetic diseases [RCV002583849]|not provided [RCV002583848] Chr15:51564255 [GRCh38]
Chr15:51856452 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.4376A>G (p.Gln1459Arg) single nucleotide variant not provided [RCV002586308] Chr15:51498848 [GRCh38]
Chr15:51791045 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.1855G>C (p.Gly619Arg) single nucleotide variant not provided [RCV003052084] Chr15:51536625 [GRCh38]
Chr15:51828822 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.4346G>A (p.Ser1449Asn) single nucleotide variant not provided [RCV002606099] Chr15:51498878 [GRCh38]
Chr15:51791075 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.5483-9T>C single nucleotide variant not provided [RCV002606104] Chr15:51481632 [GRCh38]
Chr15:51773829 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.421G>C (p.Asp141His) single nucleotide variant not provided [RCV002607042] Chr15:51564204 [GRCh38]
Chr15:51856401 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.7071G>T (p.Leu2357Phe) single nucleotide variant not provided [RCV002588218] Chr15:51474486 [GRCh38]
Chr15:51766683 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.8399-11_8399-10del deletion not provided [RCV002604704] Chr15:51456203..51456204 [GRCh38]
Chr15:51748400..51748401 [GRCh37]
Chr15:15q21.2		 benign
NM_001378457.1(DMXL2):c.4252C>A (p.Arg1418=) single nucleotide variant not provided [RCV002658123] Chr15:51498972 [GRCh38]
Chr15:51791169 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.1807A>G (p.Met603Val) single nucleotide variant not provided [RCV002606170] Chr15:51536673 [GRCh38]
Chr15:51828870 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.8257T>G (p.Ser2753Ala) single nucleotide variant Inborn genetic diseases [RCV002588277]|not provided [RCV002588276] Chr15:51457408 [GRCh38]
Chr15:51749605 [GRCh37]
Chr15:15q21.2		 likely benign|uncertain significance
NM_001378457.1(DMXL2):c.173T>G (p.Ile58Ser) single nucleotide variant not provided [RCV002814782] Chr15:51576096 [GRCh38]
Chr15:51868293 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.4962A>G (p.Lys1654=) single nucleotide variant not provided [RCV002604747] Chr15:51488637 [GRCh38]
Chr15:51780834 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.859A>G (p.Thr287Ala) single nucleotide variant not provided [RCV003052165] Chr15:51545654 [GRCh38]
Chr15:51837851 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.8526+13G>T single nucleotide variant not provided [RCV002721572] Chr15:51456053 [GRCh38]
Chr15:51748250 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.7074A>T (p.Ile2358=) single nucleotide variant not provided [RCV002677008] Chr15:51474483 [GRCh38]
Chr15:51766680 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.2153C>T (p.Pro718Leu) single nucleotide variant not provided [RCV002814397] Chr15:51536327 [GRCh38]
Chr15:51828524 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.88-20T>C single nucleotide variant not provided [RCV002653009] Chr15:51576201 [GRCh38]
Chr15:51868398 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.8750-11TTC[2] microsatellite not provided [RCV002613136] Chr15:51450349..51450351 [GRCh38]
Chr15:51742546..51742548 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.2022A>G (p.Leu674=) single nucleotide variant not provided [RCV002653093] Chr15:51536458 [GRCh38]
Chr15:51828655 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.4291C>T (p.Leu1431=) single nucleotide variant not provided [RCV002607411] Chr15:51498933 [GRCh38]
Chr15:51791130 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.678T>C (p.Phe226=) single nucleotide variant not provided [RCV002609222] Chr15:51547298 [GRCh38]
Chr15:51839495 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.9080G>A (p.Gly3027Asp) single nucleotide variant Inborn genetic diseases [RCV002611059]|not provided [RCV002611060] Chr15:51449081 [GRCh38]
Chr15:51741278 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.4521C>G (p.Gly1507=) single nucleotide variant not provided [RCV002607631] Chr15:51498703 [GRCh38]
Chr15:51790900 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.1345+14G>A single nucleotide variant not provided [RCV002604710] Chr15:51538199 [GRCh38]
Chr15:51830396 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.5217G>A (p.Glu1739=) single nucleotide variant not provided [RCV002680813] Chr15:51487954 [GRCh38]
Chr15:51780151 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.2418G>T (p.Leu806Phe) single nucleotide variant not provided [RCV002589056] Chr15:51535681 [GRCh38]
Chr15:51827878 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.860C>A (p.Thr287Asn) single nucleotide variant not provided [RCV002722018] Chr15:51545653 [GRCh38]
Chr15:51837850 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.8719T>C (p.Leu2907=) single nucleotide variant not provided [RCV002585576] Chr15:51451675 [GRCh38]
Chr15:51743872 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.6065C>T (p.Thr2022Ile) single nucleotide variant not provided [RCV002589447] Chr15:51481041 [GRCh38]
Chr15:51773238 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.1993T>C (p.Leu665=) single nucleotide variant DMXL2-related condition [RCV003918928]|not provided [RCV002611907] Chr15:51536487 [GRCh38]
Chr15:51828684 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.2645-15T>G single nucleotide variant not provided [RCV002605090] Chr15:51507268 [GRCh38]
Chr15:51799465 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.8178A>T (p.Glu2726Asp) single nucleotide variant not provided [RCV002587545] Chr15:51458526 [GRCh38]
Chr15:51750723 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.4683A>G (p.Thr1561=) single nucleotide variant not provided [RCV003072648] Chr15:51495124 [GRCh38]
Chr15:51787321 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.8822G>A (p.Gly2941Asp) single nucleotide variant not provided [RCV002610075] Chr15:51450274 [GRCh38]
Chr15:51742471 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.7313C>T (p.Pro2438Leu) single nucleotide variant not provided [RCV002587819] Chr15:51471302 [GRCh38]
Chr15:51763499 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.21C>T (p.Leu7=) single nucleotide variant DMXL2-related condition [RCV003973657]|not provided [RCV003093552] Chr15:51622525 [GRCh38]
Chr15:51914722 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.8527-8T>C single nucleotide variant not provided [RCV002590194] Chr15:51455236 [GRCh38]
Chr15:51747433 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.2527-11T>G single nucleotide variant not provided [RCV002612688] Chr15:51514570 [GRCh38]
Chr15:51806767 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.7511A>G (p.Asn2504Ser) single nucleotide variant Inborn genetic diseases [RCV003255638] Chr15:51466193 [GRCh38]
Chr15:51758390 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.3736C>G (p.Pro1246Ala) single nucleotide variant not provided [RCV003146189] Chr15:51499488 [GRCh38]
Chr15:51791685 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.6350A>G (p.Asp2117Gly) single nucleotide variant not provided [RCV003146190] Chr15:51480756 [GRCh38]
Chr15:51772953 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.2186G>A (p.Arg729His) single nucleotide variant not provided [RCV003222824] Chr15:51536294 [GRCh38]
Chr15:51828491 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.5365A>G (p.Lys1789Glu) single nucleotide variant Inborn genetic diseases [RCV003206439] Chr15:51486190 [GRCh38]
Chr15:51778387 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.2577A>G (p.Ile859Met) single nucleotide variant Inborn genetic diseases [RCV003205257] Chr15:51514509 [GRCh38]
Chr15:51806706 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.3900C>A (p.Thr1300=) single nucleotide variant not provided [RCV003222823] Chr15:51499324 [GRCh38]
Chr15:51791521 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.6328C>G (p.Leu2110Val) single nucleotide variant not provided [RCV003146188] Chr15:51480778 [GRCh38]
Chr15:51772975 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.4244A>G (p.Asp1415Gly) single nucleotide variant not provided [RCV003228254] Chr15:51498980 [GRCh38]
Chr15:51791177 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.2816A>G (p.Gln939Arg) single nucleotide variant Inborn genetic diseases [RCV003184997]|not provided [RCV003720781] Chr15:51502982 [GRCh38]
Chr15:51795179 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.7319C>T (p.Pro2440Leu) single nucleotide variant not provided [RCV003319092] Chr15:51471296 [GRCh38]
Chr15:51763493 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.6775C>T (p.Leu2259=) single nucleotide variant not specified [RCV003324191] Chr15:51478329 [GRCh38]
Chr15:51770526 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.937C>T (p.His313Tyr) single nucleotide variant not provided [RCV003319093] Chr15:51542501 [GRCh38]
Chr15:51834698 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.7813C>T (p.Arg2605Trp) single nucleotide variant Inborn genetic diseases [RCV003265502] Chr15:51463492 [GRCh38]
Chr15:51755689 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.4485_4486insTATTTCTATTAGGTACAACTTT (p.Ile1496delinsTyrPheTyrTer) insertion Pituitary stalk interruption syndrome [RCV003330175] Chr15:51498738..51498739 [GRCh38]
Chr15:51790935..51790936 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.7020A>G (p.Lys2340=) single nucleotide variant not provided [RCV003326916] Chr15:51474537 [GRCh38]
Chr15:51766734 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.6195T>C (p.Asp2065=) single nucleotide variant not provided [RCV003326917] Chr15:51480911 [GRCh38]
Chr15:51773108 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.352T>C (p.Trp118Arg) single nucleotide variant Developmental and epileptic encephalopathy, 81 [RCV003334373] Chr15:51565100 [GRCh38]
Chr15:51857297 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.5855G>T (p.Trp1952Leu) single nucleotide variant Inborn genetic diseases [RCV003345773] Chr15:51481251 [GRCh38]
Chr15:51773448 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.1723C>T (p.His575Tyr) single nucleotide variant Inborn genetic diseases [RCV003354572] Chr15:51536757 [GRCh38]
Chr15:51828954 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.6931G>A (p.Ala2311Thr) single nucleotide variant not provided [RCV003394847] Chr15:51476622 [GRCh38]
Chr15:51768819 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.3778T>C (p.Leu1260=) single nucleotide variant not provided [RCV003394850] Chr15:51499446 [GRCh38]
Chr15:51791643 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.4159G>A (p.Ala1387Thr) single nucleotide variant DMXL2-related condition [RCV003420807] Chr15:51499065 [GRCh38]
Chr15:51791262 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.7277T>C (p.Val2426Ala) single nucleotide variant Inborn genetic diseases [RCV003369728] Chr15:51471338 [GRCh38]
Chr15:51763535 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.1928A>T (p.Lys643Ile) single nucleotide variant Inborn genetic diseases [RCV003352508] Chr15:51536552 [GRCh38]
Chr15:51828749 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.2276T>C (p.Val759Ala) single nucleotide variant Inborn genetic diseases [RCV003377337] Chr15:51536204 [GRCh38]
Chr15:51828401 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.4836A>G (p.Glu1612=) single nucleotide variant not provided [RCV003569804] Chr15:51491695 [GRCh38]
Chr15:51783892 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.6042C>T (p.Ala2014=) single nucleotide variant not provided [RCV003712586] Chr15:51481064 [GRCh38]
Chr15:51773261 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.4411C>T (p.Leu1471=) single nucleotide variant not provided [RCV003874031] Chr15:51498813 [GRCh38]
Chr15:51791010 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.3172G>A (p.Gly1058Arg) single nucleotide variant Developmental and epileptic encephalopathy, 81 [RCV003458992] Chr15:51500052 [GRCh38]
Chr15:51792249 [GRCh37]
Chr15:15q21.2		 uncertain significance
GRCh37/hg19 15q21.1-21.3(chr15:49390592-56800964)x1 copy number loss not provided [RCV003483230] Chr15:49390592..56800964 [GRCh37]
Chr15:15q21.1-21.3		 pathogenic
NM_001378457.1(DMXL2):c.8526+2T>C single nucleotide variant not provided [RCV003570943] Chr15:51456064 [GRCh38]
Chr15:51748261 [GRCh37]
Chr15:15q21.2		 likely pathogenic
NM_001378457.1(DMXL2):c.2994C>T (p.Gly998=) single nucleotide variant not provided [RCV003875475] Chr15:51500230 [GRCh38]
Chr15:51792427 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.1315G>T (p.Glu439Ter) single nucleotide variant not provided [RCV003569206] Chr15:51538243 [GRCh38]
Chr15:51830440 [GRCh37]
Chr15:15q21.2		 pathogenic
NM_001378457.1(DMXL2):c.2195C>T (p.Pro732Leu) single nucleotide variant not provided [RCV003543363] Chr15:51536285 [GRCh38]
Chr15:51828482 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.3759_3760del (p.Trp1254fs) deletion not provided [RCV003569211] Chr15:51499464..51499465 [GRCh38]
Chr15:51791661..51791662 [GRCh37]
Chr15:15q21.2		 pathogenic
NM_001378457.1(DMXL2):c.440A>G (p.Glu147Gly) single nucleotide variant not provided [RCV003686239] Chr15:51564185 [GRCh38]
Chr15:51856382 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.8076+16A>G single nucleotide variant not provided [RCV003571715] Chr15:51458693 [GRCh38]
Chr15:51750890 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.4731A>G (p.Thr1577=) single nucleotide variant not provided [RCV003394848]|not specified [RCV003988113] Chr15:51495076 [GRCh38]
Chr15:51787273 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.869G>T (p.Ser290Ile) single nucleotide variant DMXL2-related condition [RCV003391572] Chr15:51545644 [GRCh38]
Chr15:51837841 [GRCh37]
Chr15:15q21.2		 uncertain significance
GRCh37/hg19 15q21.2(chr15:51542162-52273119)x3 copy number gain not provided [RCV003485067] Chr15:51542162..52273119 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.2992+1G>A single nucleotide variant DMXL2-related condition [RCV003419094] Chr15:51502805 [GRCh38]
Chr15:51795002 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.7994A>G (p.Glu2665Gly) single nucleotide variant not provided [RCV003394846] Chr15:51458791 [GRCh38]
Chr15:51750988 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.5051+12T>A single nucleotide variant not provided [RCV003825350] Chr15:51488536 [GRCh38]
Chr15:51780733 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.8701G>A (p.Val2901Ile) single nucleotide variant not provided [RCV003390494] Chr15:51451693 [GRCh38]
Chr15:51743890 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.3264G>C (p.Gln1088His) single nucleotide variant DMXL2-related condition [RCV003418832] Chr15:51499960 [GRCh38]
Chr15:51792157 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.9085C>T (p.Arg3029Trp) single nucleotide variant DMXL2-related condition [RCV003412090] Chr15:51449076 [GRCh38]
Chr15:51741273 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.671T>A (p.Phe224Tyr) single nucleotide variant DMXL2-related condition [RCV003403076] Chr15:51547305 [GRCh38]
Chr15:51839502 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.4402T>G (p.Tyr1468Asp) single nucleotide variant DMXL2-related condition [RCV003412153] Chr15:51498822 [GRCh38]
Chr15:51791019 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.4316A>G (p.Gln1439Arg) single nucleotide variant not provided [RCV003394849] Chr15:51498908 [GRCh38]
Chr15:51791105 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.261C>T (p.Gly87=) single nucleotide variant not provided [RCV003394852] Chr15:51568511 [GRCh38]
Chr15:51860708 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.199A>G (p.Asn67Asp) single nucleotide variant not provided [RCV003394853] Chr15:51576070 [GRCh38]
Chr15:51868267 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.430G>A (p.Glu144Lys) single nucleotide variant Hearing loss, autosomal dominant 71 [RCV003389131] Chr15:51564195 [GRCh38]
Chr15:51856392 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.6187G>A (p.Glu2063Lys) single nucleotide variant not provided [RCV003390495] Chr15:51480919 [GRCh38]
Chr15:51773116 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.979G>C (p.Val327Leu) single nucleotide variant DMXL2-related condition [RCV003410689] Chr15:51542459 [GRCh38]
Chr15:51834656 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.2313A>G (p.Leu771=) single nucleotide variant not provided [RCV003394851] Chr15:51536167 [GRCh38]
Chr15:51828364 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.2763A>T (p.Leu921Phe) single nucleotide variant Hearing loss, autosomal dominant 71 [RCV003391159] Chr15:51507135 [GRCh38]
Chr15:51799332 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.6834-1G>T single nucleotide variant not provided [RCV003876342] Chr15:51476720 [GRCh38]
Chr15:51768917 [GRCh37]
Chr15:15q21.2		 likely pathogenic
NM_001378457.1(DMXL2):c.5218-21_5218-18del deletion not provided [RCV003573998] Chr15:51486355..51486358 [GRCh38]
Chr15:51778552..51778555 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.8749+13C>G single nucleotide variant not provided [RCV003714751] Chr15:51451632 [GRCh38]
Chr15:51743829 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.213+17C>A single nucleotide variant not provided [RCV003688661] Chr15:51576039 [GRCh38]
Chr15:51868236 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.8811A>C (p.Leu2937=) single nucleotide variant not provided [RCV003825937] Chr15:51450285 [GRCh38]
Chr15:51742482 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.8527-2A>G single nucleotide variant not provided [RCV003695810] Chr15:51455230 [GRCh38]
Chr15:51747427 [GRCh37]
Chr15:15q21.2		 likely pathogenic
NM_001378457.1(DMXL2):c.1794C>T (p.Ser598=) single nucleotide variant not provided [RCV003687562] Chr15:51536686 [GRCh38]
Chr15:51828883 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.9090C>T (p.Leu3030=) single nucleotide variant not provided [RCV003695808] Chr15:51449071 [GRCh38]
Chr15:51741268 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.8076+8C>T single nucleotide variant not provided [RCV003831873] Chr15:51458701 [GRCh38]
Chr15:51750898 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.5103A>G (p.Glu1701=) single nucleotide variant not provided [RCV003695841] Chr15:51488068 [GRCh38]
Chr15:51780265 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.7794A>G (p.Glu2598=) single nucleotide variant not provided [RCV003696741] Chr15:51464689 [GRCh38]
Chr15:51756886 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.8199-6T>C single nucleotide variant not provided [RCV003695317] Chr15:51457472 [GRCh38]
Chr15:51749669 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.244A>G (p.Ile82Val) single nucleotide variant not provided [RCV003575657] Chr15:51568528 [GRCh38]
Chr15:51860725 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.8604+20C>T single nucleotide variant not provided [RCV003686798] Chr15:51455131 [GRCh38]
Chr15:51747328 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.3165T>C (p.Asn1055=) single nucleotide variant not provided [RCV003715094] Chr15:51500059 [GRCh38]
Chr15:51792256 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.1617+13G>C single nucleotide variant not provided [RCV003829870] Chr15:51537475 [GRCh38]
Chr15:51829672 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.219A>C (p.Ala73=) single nucleotide variant not provided [RCV003693835] Chr15:51568553 [GRCh38]
Chr15:51860750 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.8055C>A (p.Ile2685=) single nucleotide variant not provided [RCV003829979] Chr15:51458730 [GRCh38]
Chr15:51750927 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.2613G>A (p.Lys871=) single nucleotide variant not provided [RCV003575659] Chr15:51514473 [GRCh38]
Chr15:51806670 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.6066A>T (p.Thr2022=) single nucleotide variant not provided [RCV003689746] Chr15:51481040 [GRCh38]
Chr15:51773237 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.2370G>A (p.Leu790=) single nucleotide variant not provided [RCV003738855] Chr15:51535729 [GRCh38]
Chr15:51827926 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.6549A>G (p.Leu2183=) single nucleotide variant not provided [RCV003830857] Chr15:51480557 [GRCh38]
Chr15:51772754 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.5710G>A (p.Val1904Ile) single nucleotide variant not provided [RCV003879844] Chr15:51481396 [GRCh38]
Chr15:51773593 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.1563G>A (p.Val521=) single nucleotide variant not provided [RCV003576653] Chr15:51537542 [GRCh38]
Chr15:51829739 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.6109G>A (p.Val2037Met) single nucleotide variant not provided [RCV003660198] Chr15:51480997 [GRCh38]
Chr15:51773194 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.6098C>G (p.Thr2033Ser) single nucleotide variant not provided [RCV003490701] Chr15:51481008 [GRCh38]
Chr15:51773205 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.5217+8T>C single nucleotide variant not provided [RCV003575556] Chr15:51487946 [GRCh38]
Chr15:51780143 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.7689del (p.Gln2564fs) deletion not provided [RCV003713548] Chr15:51464794 [GRCh38]
Chr15:51756991 [GRCh37]
Chr15:15q21.2		 pathogenic
NM_001378457.1(DMXL2):c.8842A>G (p.Ile2948Val) single nucleotide variant not provided [RCV003689312] Chr15:51450254 [GRCh38]
Chr15:51742451 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.2645-19C>T single nucleotide variant not provided [RCV003825163] Chr15:51507272 [GRCh38]
Chr15:51799469 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.7213+9C>A single nucleotide variant not provided [RCV003691107] Chr15:51474335 [GRCh38]
Chr15:51766532 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.4362G>C (p.Gln1454His) single nucleotide variant not provided [RCV003713452] Chr15:51498862 [GRCh38]
Chr15:51791059 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.8157A>C (p.Ser2719=) single nucleotide variant not provided [RCV003661087] Chr15:51458547 [GRCh38]
Chr15:51750744 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.746+7T>G single nucleotide variant not provided [RCV003694471] Chr15:51547223 [GRCh38]
Chr15:51839420 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.5742A>G (p.Thr1914=) single nucleotide variant not provided [RCV003661881] Chr15:51481364 [GRCh38]
Chr15:51773561 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.2427A>C (p.Pro809=) single nucleotide variant not provided [RCV003661882] Chr15:51535672 [GRCh38]
Chr15:51827869 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.7755A>T (p.Gly2585=) single nucleotide variant not provided [RCV003695955] Chr15:51464728 [GRCh38]
Chr15:51756925 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.1909G>C (p.Val637Leu) single nucleotide variant not provided [RCV003876343] Chr15:51536571 [GRCh38]
Chr15:51828768 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.8076+10C>T single nucleotide variant not provided [RCV003660046] Chr15:51458699 [GRCh38]
Chr15:51750896 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.344A>G (p.Asn115Ser) single nucleotide variant not provided [RCV003878345] Chr15:51565108 [GRCh38]
Chr15:51857305 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.2190A>G (p.Val730=) single nucleotide variant not provided [RCV003578967] Chr15:51536290 [GRCh38]
Chr15:51828487 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.3824A>G (p.Lys1275Arg) single nucleotide variant not provided [RCV003826706] Chr15:51499400 [GRCh38]
Chr15:51791597 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.6261A>C (p.Ile2087=) single nucleotide variant not provided [RCV003544944] Chr15:51480845 [GRCh38]
Chr15:51773042 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.825A>G (p.Glu275=) single nucleotide variant not provided [RCV003661306] Chr15:51545688 [GRCh38]
Chr15:51837885 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.2992+8C>T single nucleotide variant not provided [RCV003577402] Chr15:51502798 [GRCh38]
Chr15:51794995 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.931-20C>A single nucleotide variant not provided [RCV003877705] Chr15:51542527 [GRCh38]
Chr15:51834724 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.7990-13G>C single nucleotide variant not provided [RCV003824873] Chr15:51458808 [GRCh38]
Chr15:51751005 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.1155T>C (p.Asn385=) single nucleotide variant not provided [RCV003830442] Chr15:51538403 [GRCh38]
Chr15:51830600 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.7520+16C>G single nucleotide variant not provided [RCV003666061] Chr15:51466168 [GRCh38]
Chr15:51758365 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.8527-13A>G single nucleotide variant not provided [RCV003826504] Chr15:51455241 [GRCh38]
Chr15:51747438 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.8077-9G>A single nucleotide variant not provided [RCV003688449] Chr15:51458636 [GRCh38]
Chr15:51750833 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.8307C>T (p.Gly2769=) single nucleotide variant not provided [RCV003687215] Chr15:51457358 [GRCh38]
Chr15:51749555 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.8086A>T (p.Asn2696Tyr) single nucleotide variant not provided [RCV003660374] Chr15:51458618 [GRCh38]
Chr15:51750815 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.5583T>A (p.Thr1861=) single nucleotide variant not provided [RCV003713442] Chr15:51481523 [GRCh38]
Chr15:51773720 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.285+17A>G single nucleotide variant not provided [RCV003716000] Chr15:51568470 [GRCh38]
Chr15:51860667 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.8968-3T>C single nucleotide variant not provided [RCV003576226] Chr15:51449196 [GRCh38]
Chr15:51741393 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.1623T>A (p.Ser541=) single nucleotide variant not provided [RCV003877966] Chr15:51536857 [GRCh38]
Chr15:51829054 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.88-11_88-3del deletion not provided [RCV003662250] Chr15:51576184..51576192 [GRCh38]
Chr15:51868381..51868389 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.8199-17A>G single nucleotide variant not provided [RCV003880579] Chr15:51457483 [GRCh38]
Chr15:51749680 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.4784-10T>G single nucleotide variant not provided [RCV003691417] Chr15:51491757 [GRCh38]
Chr15:51783954 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.7392+20C>T single nucleotide variant not provided [RCV003827724] Chr15:51471203 [GRCh38]
Chr15:51763400 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.4806C>T (p.Ala1602=) single nucleotide variant not provided [RCV003662598] Chr15:51491725 [GRCh38]
Chr15:51783922 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.7214-17del deletion not provided [RCV003689618] Chr15:51471418 [GRCh38]
Chr15:51763615 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.4389A>G (p.Gln1463=) single nucleotide variant not provided [RCV003699688] Chr15:51498835 [GRCh38]
Chr15:51791032 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.5581A>G (p.Thr1861Ala) single nucleotide variant not provided [RCV003833804] Chr15:51481525 [GRCh38]
Chr15:51773722 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.1996T>C (p.Leu666=) single nucleotide variant not provided [RCV003548901] Chr15:51536484 [GRCh38]
Chr15:51828681 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.88-3_88-2insTTTTTTTTTTTTTTTTTTTTT insertion not provided [RCV003548917] Chr15:51576183..51576184 [GRCh38]
Chr15:51868380..51868381 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.1251G>A (p.Lys417=) single nucleotide variant not provided [RCV003548831] Chr15:51538307 [GRCh38]
Chr15:51830504 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.3810A>G (p.Val1270=) single nucleotide variant not provided [RCV003852482] Chr15:51499414 [GRCh38]
Chr15:51791611 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.2065T>C (p.Leu689=) single nucleotide variant not provided [RCV003663678] Chr15:51536415 [GRCh38]
Chr15:51828612 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.87+12C>A single nucleotide variant not provided [RCV003579777] Chr15:51622447 [GRCh38]
Chr15:51914644 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.1161C>T (p.Gly387=) single nucleotide variant not provided [RCV003664568] Chr15:51538397 [GRCh38]
Chr15:51830594 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.5163T>C (p.Phe1721=) single nucleotide variant not provided [RCV003717260] Chr15:51488008 [GRCh38]
Chr15:51780205 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.141A>G (p.Val47=) single nucleotide variant not provided [RCV003834267] Chr15:51576128 [GRCh38]
Chr15:51868325 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.3696T>A (p.Leu1232=) single nucleotide variant not provided [RCV003548403] Chr15:51499528 [GRCh38]
Chr15:51791725 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.4672+12C>T single nucleotide variant not provided [RCV003850963] Chr15:51498540 [GRCh38]
Chr15:51790737 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.2196A>G (p.Pro732=) single nucleotide variant not provided [RCV003810830] Chr15:51536284 [GRCh38]
Chr15:51828481 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.6111G>C (p.Val2037=) single nucleotide variant not provided [RCV003833498] Chr15:51480995 [GRCh38]
Chr15:51773192 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.7113G>A (p.Arg2371=) single nucleotide variant not provided [RCV003852089] Chr15:51474444 [GRCh38]
Chr15:51766641 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.8077-11T>C single nucleotide variant not provided [RCV003659570] Chr15:51458638 [GRCh38]
Chr15:51750835 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.4293A>G (p.Leu1431=) single nucleotide variant not provided [RCV003670396] Chr15:51498931 [GRCh38]
Chr15:51791128 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.4530T>C (p.His1510=) single nucleotide variant not provided [RCV003839346] Chr15:51498694 [GRCh38]
Chr15:51790891 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.7521-20T>C single nucleotide variant not provided [RCV003670420] Chr15:51465671 [GRCh38]
Chr15:51757868 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.1893G>A (p.Lys631=) single nucleotide variant not provided [RCV003700176] Chr15:51536587 [GRCh38]
Chr15:51828784 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.8967+18G>C single nucleotide variant not provided [RCV003831980] Chr15:51450111 [GRCh38]
Chr15:51742308 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.3129A>G (p.Lys1043=) single nucleotide variant not provided [RCV003814279] Chr15:51500095 [GRCh38]
Chr15:51792292 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.8398+8T>C single nucleotide variant not provided [RCV003550105] Chr15:51456301 [GRCh38]
Chr15:51748498 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.8994A>G (p.Leu2998=) single nucleotide variant not provided [RCV003561929] Chr15:51449167 [GRCh38]
Chr15:51741364 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.3480T>C (p.Tyr1160=) single nucleotide variant not provided [RCV003667134] Chr15:51499744 [GRCh38]
Chr15:51791941 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.7359C>A (p.Pro2453=) single nucleotide variant not provided [RCV003672526] Chr15:51471256 [GRCh38]
Chr15:51763453 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.6834-11A>T single nucleotide variant not provided [RCV003560246] Chr15:51476730 [GRCh38]
Chr15:51768927 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.2703C>T (p.Ser901=) single nucleotide variant not provided [RCV003665466] Chr15:51507195 [GRCh38]
Chr15:51799392 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.5483-10A>T single nucleotide variant not provided [RCV003697556] Chr15:51481633 [GRCh38]
Chr15:51773830 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.3606T>A (p.Thr1202=) single nucleotide variant not provided [RCV003549187] Chr15:51499618 [GRCh38]
Chr15:51791815 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.7493A>C (p.Gln2498Pro) single nucleotide variant not provided [RCV003665929] Chr15:51466211 [GRCh38]
Chr15:51758408 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.6306T>C (p.Tyr2102=) single nucleotide variant not provided [RCV003851224] Chr15:51480800 [GRCh38]
Chr15:51772997 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.60G>C (p.Val20=) single nucleotide variant not provided [RCV003837356] Chr15:51622486 [GRCh38]
Chr15:51914683 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.2697G>A (p.Lys899=) single nucleotide variant not provided [RCV003697110] Chr15:51507201 [GRCh38]
Chr15:51799398 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.891T>C (p.His297=) single nucleotide variant not provided [RCV003673853] Chr15:51545622 [GRCh38]
Chr15:51837819 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.8880C>T (p.Phe2960=) single nucleotide variant not provided [RCV003671508] Chr15:51450216 [GRCh38]
Chr15:51742413 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.213+19T>G single nucleotide variant not provided [RCV003671788] Chr15:51576037 [GRCh38]
Chr15:51868234 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.2163C>A (p.Ile721=) single nucleotide variant not provided [RCV003702612] Chr15:51536317 [GRCh38]
Chr15:51828514 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.6363T>C (p.Ile2121=) single nucleotide variant not provided [RCV003667813] Chr15:51480743 [GRCh38]
Chr15:51772940 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.8198+9C>T single nucleotide variant not provided [RCV003816831] Chr15:51458497 [GRCh38]
Chr15:51750694 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.2661A>G (p.Pro887=) single nucleotide variant not provided [RCV003855617] Chr15:51507237 [GRCh38]
Chr15:51799434 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.645A>G (p.Val215=) single nucleotide variant not provided [RCV003856260] Chr15:51547331 [GRCh38]
Chr15:51839528 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.1873G>T (p.Ala625Ser) single nucleotide variant not provided [RCV003702756] Chr15:51536607 [GRCh38]
Chr15:51828804 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.4224A>G (p.Glu1408=) single nucleotide variant not provided [RCV003701926] Chr15:51499000 [GRCh38]
Chr15:51791197 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.1711A>G (p.Thr571Ala) single nucleotide variant not provided [RCV003673571] Chr15:51536769 [GRCh38]
Chr15:51828966 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.2764+8A>G single nucleotide variant not provided [RCV003673552] Chr15:51507126 [GRCh38]
Chr15:51799323 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.4026T>C (p.Pro1342=) single nucleotide variant not provided [RCV003839668] Chr15:51499198 [GRCh38]
Chr15:51791395 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.1410A>G (p.Arg470=) single nucleotide variant not provided [RCV003700361] Chr15:51537695 [GRCh38]
Chr15:51829892 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.8338-20_8338-18del deletion not provided [RCV003700405] Chr15:51456387..51456389 [GRCh38]
Chr15:51748584..51748586 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.2424C>T (p.Asp808=) single nucleotide variant not provided [RCV003667104] Chr15:51535675 [GRCh38]
Chr15:51827872 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.8749+10G>T single nucleotide variant not provided [RCV003697478] Chr15:51451635 [GRCh38]
Chr15:51743832 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.8940C>A (p.Thr2980=) single nucleotide variant not provided [RCV003817222] Chr15:51450156 [GRCh38]
Chr15:51742353 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.7485A>G (p.Thr2495=) single nucleotide variant not provided [RCV003561692] Chr15:51466219 [GRCh38]
Chr15:51758416 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.213+4A>G single nucleotide variant not provided [RCV003668660] Chr15:51576052 [GRCh38]
Chr15:51868249 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.8338-20T>C single nucleotide variant not provided [RCV003838237] Chr15:51456389 [GRCh38]
Chr15:51748586 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.5121T>C (p.Ala1707=) single nucleotide variant not provided [RCV003834896] Chr15:51488050 [GRCh38]
Chr15:51780247 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.8877G>A (p.Thr2959=) single nucleotide variant not provided [RCV003668725] Chr15:51450219 [GRCh38]
Chr15:51742416 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.5442A>G (p.Thr1814=) single nucleotide variant not provided [RCV003856097] Chr15:51486113 [GRCh38]
Chr15:51778310 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.2765-18T>G single nucleotide variant not provided [RCV003832934] Chr15:51503051 [GRCh38]
Chr15:51795248 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.6420T>C (p.His2140=) single nucleotide variant not provided [RCV003670063] Chr15:51480686 [GRCh38]
Chr15:51772883 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.8542G>T (p.Gly2848Ter) single nucleotide variant not provided [RCV003558289] Chr15:51455213 [GRCh38]
Chr15:51747410 [GRCh37]
Chr15:15q21.2		 pathogenic
NM_001378457.1(DMXL2):c.2457dup (p.Asn820Ter) duplication not provided [RCV003560591] Chr15:51517146..51517147 [GRCh38]
Chr15:51809343..51809344 [GRCh37]
Chr15:15q21.2		 pathogenic
NM_001378457.1(DMXL2):c.7746G>C (p.Val2582=) single nucleotide variant not provided [RCV003814130] Chr15:51464737 [GRCh38]
Chr15:51756934 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.612G>T (p.Lys204Asn) single nucleotide variant not provided [RCV003672580] Chr15:51547364 [GRCh38]
Chr15:51839561 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.3477A>G (p.Arg1159=) single nucleotide variant not provided [RCV003559392] Chr15:51499747 [GRCh38]
Chr15:51791944 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.9042C>T (p.Asn3014=) single nucleotide variant not provided [RCV003833757] Chr15:51449119 [GRCh38]
Chr15:51741316 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.7393-20A>C single nucleotide variant not provided [RCV003668797] Chr15:51466331 [GRCh38]
Chr15:51758528 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.3459A>C (p.Ala1153=) single nucleotide variant not provided [RCV003667113] Chr15:51499765 [GRCh38]
Chr15:51791962 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.8697-20T>C single nucleotide variant not provided [RCV003833095] Chr15:51451717 [GRCh38]
Chr15:51743914 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.747-3T>C single nucleotide variant not provided [RCV003667916] Chr15:51545769 [GRCh38]
Chr15:51837966 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.6965-12A>G single nucleotide variant not provided [RCV003702326] Chr15:51474604 [GRCh38]
Chr15:51766801 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.8399-5T>C single nucleotide variant not provided [RCV003834837] Chr15:51456198 [GRCh38]
Chr15:51748395 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.5493G>A (p.Lys1831=) single nucleotide variant not provided [RCV003854721] Chr15:51481613 [GRCh38]
Chr15:51773810 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.5854T>A (p.Trp1952Arg) single nucleotide variant not provided [RCV003725582] Chr15:51481252 [GRCh38]
Chr15:51773449 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.4983T>C (p.Asn1661=) single nucleotide variant not provided [RCV003852346] Chr15:51488616 [GRCh38]
Chr15:51780813 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.8471G>A (p.Arg2824His) single nucleotide variant not provided [RCV003814797] Chr15:51456121 [GRCh38]
Chr15:51748318 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.2262A>C (p.Ser754=) single nucleotide variant not provided [RCV003671094] Chr15:51536218 [GRCh38]
Chr15:51828415 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.8527-7C>G single nucleotide variant not provided [RCV003560542] Chr15:51455235 [GRCh38]
Chr15:51747432 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.8077-4A>G single nucleotide variant not provided [RCV003816463] Chr15:51458631 [GRCh38]
Chr15:51750828 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.7207A>G (p.Ile2403Val) single nucleotide variant not provided [RCV003850072] Chr15:51474350 [GRCh38]
Chr15:51766547 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.6999C>G (p.Ala2333=) single nucleotide variant not provided [RCV003717763] Chr15:51474558 [GRCh38]
Chr15:51766755 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.2004C>T (p.Ser668=) single nucleotide variant not provided [RCV003841387] Chr15:51536476 [GRCh38]
Chr15:51828673 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.5877G>A (p.Gln1959=) single nucleotide variant not provided [RCV003733482] Chr15:51481229 [GRCh38]
Chr15:51773426 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.465T>G (p.Pro155=) single nucleotide variant not provided [RCV003861663] Chr15:51564160 [GRCh38]
Chr15:51856357 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.1618-17A>G single nucleotide variant not provided [RCV003819360] Chr15:51536879 [GRCh38]
Chr15:51829076 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.8750-12T>C single nucleotide variant not provided [RCV003542658] Chr15:51450358 [GRCh38]
Chr15:51742555 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.2481T>G (p.Thr827=) single nucleotide variant not provided [RCV003674770] Chr15:51517123 [GRCh38]
Chr15:51809320 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.2644+9A>C single nucleotide variant not provided [RCV003677294] Chr15:51514433 [GRCh38]
Chr15:51806630 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.2436+15A>T single nucleotide variant not provided [RCV003843402] Chr15:51535648 [GRCh38]
Chr15:51827845 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.7926+9A>G single nucleotide variant not provided [RCV003732421] Chr15:51463370 [GRCh38]
Chr15:51755567 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.1035A>G (p.Gln345=) single nucleotide variant not provided [RCV003683161] Chr15:51542403 [GRCh38]
Chr15:51834600 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.1198T>C (p.Phe400Leu) single nucleotide variant not provided [RCV003550495] Chr15:51538360 [GRCh38]
Chr15:51830557 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.4722C>T (p.Arg1574=) single nucleotide variant not provided [RCV003857216] Chr15:51495085 [GRCh38]
Chr15:51787282 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.7521-17dup duplication not provided [RCV003821464] Chr15:51465667..51465668 [GRCh38]
Chr15:51757864..51757865 [GRCh37]
Chr15:15q21.2		 benign
NM_001378457.1(DMXL2):c.2527-20A>T single nucleotide variant not provided [RCV003820651] Chr15:51514579 [GRCh38]
Chr15:51806776 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.5429G>A (p.Arg1810Gln) single nucleotide variant not provided [RCV003861101] Chr15:51486126 [GRCh38]
Chr15:51778323 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.88-10_88-9insTTTTTTTTTTTTTA microsatellite not provided [RCV003682026] Chr15:51576190..51576191 [GRCh38]
Chr15:51868387..51868388 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.1346-5T>C single nucleotide variant not provided [RCV003677745] Chr15:51537764 [GRCh38]
Chr15:51829961 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.411T>G (p.Pro137=) single nucleotide variant not provided [RCV003682114] Chr15:51564214 [GRCh38]
Chr15:51856411 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.4672+9T>A single nucleotide variant not provided [RCV003541856] Chr15:51498543 [GRCh38]
Chr15:51790740 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.7002A>G (p.Gln2334=) single nucleotide variant not provided [RCV003675324] Chr15:51474555 [GRCh38]
Chr15:51766752 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.4953+8T>G single nucleotide variant not provided [RCV003843459] Chr15:51491570 [GRCh38]
Chr15:51783767 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.1725C>T (p.His575=) single nucleotide variant not provided [RCV003553631] Chr15:51536755 [GRCh38]
Chr15:51828952 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.96A>T (p.Gly32=) single nucleotide variant not provided [RCV003730692] Chr15:51576173 [GRCh38]
Chr15:51868370 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.3670C>G (p.Gln1224Glu) single nucleotide variant not provided [RCV003732742] Chr15:51499554 [GRCh38]
Chr15:51791751 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.2544G>A (p.Gln848=) single nucleotide variant not provided [RCV003841181] Chr15:51514542 [GRCh38]
Chr15:51806739 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.5544T>A (p.Pro1848=) single nucleotide variant not provided [RCV003852910] Chr15:51481562 [GRCh38]
Chr15:51773759 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.7214-2A>G single nucleotide variant not provided [RCV003865428] Chr15:51471403 [GRCh38]
Chr15:51763600 [GRCh37]
Chr15:15q21.2		 likely pathogenic
NM_001378457.1(DMXL2):c.286-11A>G single nucleotide variant not provided [RCV003840579] Chr15:51565177 [GRCh38]
Chr15:51857374 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.4842T>A (p.Ile1614=) single nucleotide variant not provided [RCV003708419] Chr15:51491689 [GRCh38]
Chr15:51783886 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.4137A>C (p.Val1379=) single nucleotide variant not provided [RCV003568383] Chr15:51499087 [GRCh38]
Chr15:51791284 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.4593G>A (p.Gln1531=) single nucleotide variant not provided [RCV003562641] Chr15:51498631 [GRCh38]
Chr15:51790828 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.1929A>G (p.Lys643=) single nucleotide variant not provided [RCV003728705] Chr15:51536551 [GRCh38]
Chr15:51828748 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.5829T>C (p.Asp1943=) single nucleotide variant not provided [RCV003705482] Chr15:51481277 [GRCh38]
Chr15:51773474 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.6756+10A>G single nucleotide variant not provided [RCV003711772] Chr15:51479938 [GRCh38]
Chr15:51772135 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.3321T>A (p.Phe1107Leu) single nucleotide variant not provided [RCV003706124] Chr15:51499903 [GRCh38]
Chr15:51792100 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.8185A>C (p.Arg2729=) single nucleotide variant not provided [RCV003844839] Chr15:51458519 [GRCh38]
Chr15:51750716 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.6957A>G (p.Gln2319=) single nucleotide variant not provided [RCV003841246] Chr15:51476596 [GRCh38]
Chr15:51768793 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.5304T>C (p.Tyr1768=) single nucleotide variant not provided [RCV003845942] Chr15:51486251 [GRCh38]
Chr15:51778448 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.4668C>T (p.Cys1556=) single nucleotide variant not provided [RCV003706330] Chr15:51498556 [GRCh38]
Chr15:51790753 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.2993-7T>A single nucleotide variant not provided [RCV003860400] Chr15:51500238 [GRCh38]
Chr15:51792435 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.252G>C (p.Glu84Asp) single nucleotide variant not provided [RCV003722286] Chr15:51568520 [GRCh38]
Chr15:51860717 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.8526+15G>T single nucleotide variant not provided [RCV003566492] Chr15:51456051 [GRCh38]
Chr15:51748248 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.8198+15C>T single nucleotide variant not provided [RCV003866883] Chr15:51458491 [GRCh38]
Chr15:51750688 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.5388C>T (p.Phe1796=) single nucleotide variant not provided [RCV003712146] Chr15:51486167 [GRCh38]
Chr15:51778364 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.8586A>G (p.Ser2862=) single nucleotide variant not provided [RCV003721190] Chr15:51455169 [GRCh38]
Chr15:51747366 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.3453A>G (p.Ser1151=) single nucleotide variant not provided [RCV003731778] Chr15:51499771 [GRCh38]
Chr15:51791968 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.7323A>G (p.Ala2441=) single nucleotide variant not provided [RCV003710485] Chr15:51471292 [GRCh38]
Chr15:51763489 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.1056A>C (p.Ala352=) single nucleotide variant not provided [RCV003681161] Chr15:51542382 [GRCh38]
Chr15:51834579 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.2343C>T (p.Cys781=) single nucleotide variant not provided [RCV003710542] Chr15:51535756 [GRCh38]
Chr15:51827953 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.7809-20A>G single nucleotide variant not provided [RCV003684193] Chr15:51463516 [GRCh38]
Chr15:51755713 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.8103T>C (p.Ala2701=) single nucleotide variant not provided [RCV003728846] Chr15:51458601 [GRCh38]
Chr15:51750798 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.1815C>T (p.Ile605=) single nucleotide variant not provided [RCV003554658] Chr15:51536665 [GRCh38]
Chr15:51828862 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.7607-10C>T single nucleotide variant not provided [RCV003844126] Chr15:51464886 [GRCh38]
Chr15:51757083 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.8730C>T (p.Pro2910=) single nucleotide variant not provided [RCV003848037] Chr15:51451664 [GRCh38]
Chr15:51743861 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.5847C>G (p.Gly1949=) single nucleotide variant DMXL2-related condition [RCV003919335]|not provided [RCV003720296] Chr15:51481259 [GRCh38]
Chr15:51773456 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.8198+13G>A single nucleotide variant not provided [RCV003684490] Chr15:51458493 [GRCh38]
Chr15:51750690 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.4932G>A (p.Thr1644=) single nucleotide variant not provided [RCV003721679] Chr15:51491599 [GRCh38]
Chr15:51783796 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.5044C>T (p.Leu1682=) single nucleotide variant not provided [RCV003683780] Chr15:51488555 [GRCh38]
Chr15:51780752 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.8862G>A (p.Arg2954=) single nucleotide variant not provided [RCV003685530] Chr15:51450234 [GRCh38]
Chr15:51742431 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.1534A>G (p.Ile512Val) single nucleotide variant not provided [RCV003721911] Chr15:51537571 [GRCh38]
Chr15:51829768 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.992A>G (p.His331Arg) single nucleotide variant not provided [RCV003848338] Chr15:51542446 [GRCh38]
Chr15:51834643 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.8098T>C (p.Leu2700=) single nucleotide variant not provided [RCV003685941] Chr15:51458606 [GRCh38]
Chr15:51750803 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.90A>T (p.Ala30=) single nucleotide variant not provided [RCV003557185] Chr15:51576179 [GRCh38]
Chr15:51868376 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.5199A>C (p.Ser1733=) single nucleotide variant not provided [RCV003711378] Chr15:51487972 [GRCh38]
Chr15:51780169 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.570T>C (p.Asp190=) single nucleotide variant not provided [RCV003868483] Chr15:51547406 [GRCh38]
Chr15:51839603 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.5136T>A (p.Ala1712=) single nucleotide variant not provided [RCV003703847] Chr15:51488035 [GRCh38]
Chr15:51780232 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.7305C>G (p.Thr2435=) single nucleotide variant not provided [RCV003684027] Chr15:51471310 [GRCh38]
Chr15:51763507 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.6177T>C (p.Ala2059=) single nucleotide variant not provided [RCV003721573] Chr15:51480929 [GRCh38]
Chr15:51773126 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.3960T>C (p.Asp1320=) single nucleotide variant not provided [RCV003723264] Chr15:51499264 [GRCh38]
Chr15:51791461 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.777A>G (p.Ser259=) single nucleotide variant not provided [RCV003867651] Chr15:51545736 [GRCh38]
Chr15:51837933 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.9021T>C (p.Ala3007=) single nucleotide variant not provided [RCV003820123] Chr15:51449140 [GRCh38]
Chr15:51741337 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.5345A>T (p.Asp1782Val) single nucleotide variant not provided [RCV003823444] Chr15:51486210 [GRCh38]
Chr15:51778407 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.4783+12A>C single nucleotide variant not provided [RCV003567258] Chr15:51495012 [GRCh38]
Chr15:51787209 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.7293A>G (p.Val2431=) single nucleotide variant not provided [RCV003554783] Chr15:51471322 [GRCh38]
Chr15:51763519 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.2860C>G (p.Pro954Ala) single nucleotide variant not provided [RCV003562878] Chr15:51502938 [GRCh38]
Chr15:51795135 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.7587T>C (p.Ile2529=) single nucleotide variant not provided [RCV003562879] Chr15:51465585 [GRCh38]
Chr15:51757782 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.930+8A>G single nucleotide variant not provided [RCV003554771] Chr15:51545575 [GRCh38]
Chr15:51837772 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.1345+11T>A single nucleotide variant not provided [RCV003551016] Chr15:51538202 [GRCh38]
Chr15:51830399 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.8686A>G (p.Asn2896Asp) single nucleotide variant not provided [RCV003845661] Chr15:51453560 [GRCh38]
Chr15:51745757 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.2310T>C (p.Cys770=) single nucleotide variant not provided [RCV003820627] Chr15:51536170 [GRCh38]
Chr15:51828367 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.1911T>C (p.Val637=) single nucleotide variant not provided [RCV003566812] Chr15:51536569 [GRCh38]
Chr15:51828766 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.88-3_88-2insTTTTTTTTTTTTTTTTTTTTTT insertion not provided [RCV003553811] Chr15:51576183..51576184 [GRCh38]
Chr15:51868380..51868381 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.8479G>A (p.Gly2827Ser) single nucleotide variant not provided [RCV003841725] Chr15:51456113 [GRCh38]
Chr15:51748310 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.8198+16A>C single nucleotide variant not provided [RCV003551381] Chr15:51458490 [GRCh38]
Chr15:51750687 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.2709T>C (p.Asn903=) single nucleotide variant not provided [RCV003731975] Chr15:51507189 [GRCh38]
Chr15:51799386 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.6495T>C (p.His2165=) single nucleotide variant not provided [RCV003710350] Chr15:51480611 [GRCh38]
Chr15:51772808 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.5217+20C>T single nucleotide variant not provided [RCV003704594] Chr15:51487934 [GRCh38]
Chr15:51780131 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.5052-13G>T single nucleotide variant not provided [RCV003705974] Chr15:51488132 [GRCh38]
Chr15:51780329 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.6126A>G (p.Leu2042=) single nucleotide variant not provided [RCV003729267] Chr15:51480980 [GRCh38]
Chr15:51773177 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.6834-7G>A single nucleotide variant not provided [RCV003670599] Chr15:51476726 [GRCh38]
Chr15:51768923 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.5483-5T>A single nucleotide variant not provided [RCV003730833] Chr15:51481628 [GRCh38]
Chr15:51773825 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.8618A>G (p.His2873Arg) single nucleotide variant not provided [RCV003709068] Chr15:51453628 [GRCh38]
Chr15:51745825 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.5220A>G (p.Val1740=) single nucleotide variant not provided [RCV003674606] Chr15:51486335 [GRCh38]
Chr15:51778532 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.3433C>T (p.Leu1145=) single nucleotide variant not provided [RCV003853491] Chr15:51499791 [GRCh38]
Chr15:51791988 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.5554C>T (p.Arg1852Ter) single nucleotide variant not provided [RCV003678473] Chr15:51481552 [GRCh38]
Chr15:51773749 [GRCh37]
Chr15:15q21.2		 pathogenic
NM_001378457.1(DMXL2):c.4954-9A>T single nucleotide variant not provided [RCV003565833] Chr15:51488654 [GRCh38]
Chr15:51780851 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.2315-20G>A single nucleotide variant not provided [RCV003853663] Chr15:51535804 [GRCh38]
Chr15:51828001 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.1345+17C>G single nucleotide variant not provided [RCV003679845] Chr15:51538196 [GRCh38]
Chr15:51830393 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.3867T>C (p.Asn1289=) single nucleotide variant not provided [RCV003730725] Chr15:51499357 [GRCh38]
Chr15:51791554 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.7808+14T>A single nucleotide variant not provided [RCV003678145] Chr15:51464661 [GRCh38]
Chr15:51756858 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.3074G>A (p.Arg1025His) single nucleotide variant not provided [RCV003670692] Chr15:51500150 [GRCh38]
Chr15:51792347 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.6756+11del deletion not provided [RCV003820830] Chr15:51479937 [GRCh38]
Chr15:51772134 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.8604+15_8604+17del deletion not provided [RCV003707888] Chr15:51455134..51455136 [GRCh38]
Chr15:51747331..51747333 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.88-4_88-3del deletion not provided [RCV003677139] Chr15:51576184..51576185 [GRCh38]
Chr15:51868381..51868382 [GRCh37]
Chr15:15q21.2		 benign
NM_001378457.1(DMXL2):c.87+10G>A single nucleotide variant not provided [RCV003550282] Chr15:51622449 [GRCh38]
Chr15:51914646 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.3879A>T (p.Ala1293=) single nucleotide variant not provided [RCV003551406] Chr15:51499345 [GRCh38]
Chr15:51791542 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.6084T>A (p.Asp2028Glu) single nucleotide variant not provided [RCV003678369] Chr15:51481022 [GRCh38]
Chr15:51773219 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.2436+18T>G single nucleotide variant not provided [RCV003857191] Chr15:51535645 [GRCh38]
Chr15:51827842 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.3954T>G (p.Ser1318=) single nucleotide variant not provided [RCV003678203] Chr15:51499270 [GRCh38]
Chr15:51791467 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.8850C>T (p.Asp2950=) single nucleotide variant not provided [RCV003822284] Chr15:51450246 [GRCh38]
Chr15:51742443 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.2644+14del deletion not provided [RCV003677293] Chr15:51514428 [GRCh38]
Chr15:51806625 [GRCh37]
Chr15:15q21.2		 benign
NM_001378457.1(DMXL2):c.8194A>G (p.Lys2732Glu) single nucleotide variant not provided [RCV003677309] Chr15:51458510 [GRCh38]
Chr15:51750707 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.5340A>G (p.Gln1780=) single nucleotide variant not provided [RCV003568002] Chr15:51486215 [GRCh38]
Chr15:51778412 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.1617+4T>C single nucleotide variant not provided [RCV003857227] Chr15:51537484 [GRCh38]
Chr15:51829681 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.3309T>C (p.His1103=) single nucleotide variant not provided [RCV003709847] Chr15:51499915 [GRCh38]
Chr15:51792112 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.364+11A>T single nucleotide variant not provided [RCV003680612] Chr15:51565077 [GRCh38]
Chr15:51857274 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.2901C>T (p.Ala967=) single nucleotide variant not provided [RCV003861993] Chr15:51502897 [GRCh38]
Chr15:51795094 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.2314+11A>G single nucleotide variant not provided [RCV003676346] Chr15:51536155 [GRCh38]
Chr15:51828352 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.8696+12G>A single nucleotide variant not provided [RCV003861502] Chr15:51453538 [GRCh38]
Chr15:51745735 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.3757T>G (p.Ser1253Ala) single nucleotide variant not provided [RCV003553666] Chr15:51499467 [GRCh38]
Chr15:51791664 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.4980C>T (p.Asn1660=) single nucleotide variant not provided [RCV003711168] Chr15:51488619 [GRCh38]
Chr15:51780816 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.5505G>A (p.Pro1835=) single nucleotide variant not provided [RCV003841306] Chr15:51481601 [GRCh38]
Chr15:51773798 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.3549T>C (p.Leu1183=) single nucleotide variant not provided [RCV003541961] Chr15:51499675 [GRCh38]
Chr15:51791872 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.2350G>T (p.Ala784Ser) single nucleotide variant not provided [RCV003563082] Chr15:51535749 [GRCh38]
Chr15:51827946 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.5098A>G (p.Asn1700Asp) single nucleotide variant DMXL2-related condition [RCV003896552] Chr15:51488073 [GRCh38]
Chr15:51780270 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.8286T>G (p.Pro2762=) single nucleotide variant DMXL2-related condition [RCV003927222] Chr15:51457379 [GRCh38]
Chr15:51749576 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.4085G>C (p.Arg1362Pro) single nucleotide variant DMXL2-related condition [RCV003982770] Chr15:51499139 [GRCh38]
Chr15:51791336 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.6165A>G (p.Leu2055=) single nucleotide variant DMXL2-related condition [RCV003981409] Chr15:51480941 [GRCh38]
Chr15:51773138 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001378457.1(DMXL2):c.1651C>G (p.Pro551Ala) single nucleotide variant DMXL2-related condition [RCV003942266] Chr15:51536829 [GRCh38]
Chr15:51829026 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.5591C>A (p.Thr1864Asn) single nucleotide variant not provided [RCV003886662] Chr15:51481515 [GRCh38]
Chr15:51773712 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.311C>A (p.Thr104Asn) single nucleotide variant Inborn genetic diseases [RCV003345915] Chr15:51565141 [GRCh38]
Chr15:51857338 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001378457.1(DMXL2):c.2617A>G (p.Thr873Ala) single nucleotide variant Inborn genetic diseases [RCV003345914] Chr15:51514469 [GRCh38]
Chr15:51806666 [GRCh37]
Chr15:15q21.2		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2168
Count of miRNA genes:825
Interacting mature miRNAs:964
Transcripts:ENST00000251076, ENST00000449909, ENST00000543779, ENST00000558124, ENST00000558507, ENST00000559059, ENST00000559062, ENST00000559498, ENST00000559769, ENST00000559868, ENST00000560211, ENST00000560421, ENST00000560891, ENST00000561079
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
RH104279  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371551,798,559 - 51,798,650UniSTSGRCh37
Build 361549,585,851 - 49,585,942RGDNCBI36
Celera1528,691,954 - 28,692,045RGD
Cytogenetic Map15q21.2UniSTS
HuRef1528,628,623 - 28,628,714UniSTS
GeneMap99-GB4 RH Map15179.76UniSTS
SHGC-32630  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371551,796,161 - 51,796,310UniSTSGRCh37
Build 361549,583,453 - 49,583,602RGDNCBI36
Celera1528,689,556 - 28,689,705RGD
Cytogenetic Map15q21.2UniSTS
HuRef1528,626,225 - 28,626,374UniSTS
Stanford-G3 RH Map151467.0UniSTS
GeneMap99-GB4 RH Map15180.43UniSTS
Whitehead-RH Map15148.2UniSTS
GeneMap99-G3 RH Map151467.0UniSTS
RC3__5662  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371551,740,750 - 51,741,343UniSTSGRCh37
Build 361549,528,042 - 49,528,635RGDNCBI36
Celera1528,634,146 - 28,634,739RGD
HuRef1528,570,814 - 28,571,407UniSTS
G20445  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371551,740,156 - 51,740,277UniSTSGRCh37
Build 361549,527,448 - 49,527,569RGDNCBI36
Celera1528,633,552 - 28,633,673RGD
Cytogenetic Map15q21.2UniSTS
HuRef1528,570,220 - 28,570,341UniSTS
A005R29  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371551,740,156 - 51,740,277UniSTSGRCh37
Build 361549,527,448 - 49,527,569RGDNCBI36
Celera1528,633,552 - 28,633,673RGD
Cytogenetic Map15q21.2UniSTS
HuRef1528,570,220 - 28,570,341UniSTS
GeneMap99-GB4 RH Map15176.63UniSTS
D11S3316  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map6p21UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map10q11.1UniSTS
Cytogenetic MapXp11.4UniSTS
Cytogenetic Map1q23.1UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map7p15-p14UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map4p12UniSTS
Cytogenetic Map1q42.1UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map2p12-p11.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic MapXp22UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map12q13-q14UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map11q12-q13.2UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map1p21UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map16q12.2UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map4q31.3UniSTS
Cytogenetic Map20q13.1UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map12q13.11-q14.3UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic Map6p22.2UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map8q24.11UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map10q26.13UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map15q14-q15UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map6p21.31UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map10q26.1UniSTS
Cytogenetic Map4q26UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map13q13.1UniSTS
Cytogenetic Map6p21.2UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map14q31UniSTS


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
High
Medium 392 183 519 67 608 48 881 115 1775 83 607 866 26 350 479 3
Low 2039 2728 1200 552 1276 413 3279 1822 1943 334 845 740 147 1 854 2116 1
Below cutoff 4 76 6 3 57 4 196 258 16 2 5 4 1 193 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_017155 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001174116 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001174117 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001378457 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001378458 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001378459 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001378460 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001378461 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001378462 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001378463 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001378464 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_015263 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_165648 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_165649 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011521402 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017022034 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047432314 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047432315 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047432316 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047432317 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047432318 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047432319 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047432320 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047432321 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054377616 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054377617 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054377618 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054377619 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054377620 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054377621 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001751173 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001751174 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001751175 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001751176 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001751177 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_007064435 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008488931 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_931779 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_931780 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_931781 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_931782 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA629921 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB020663 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC020892 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC066613 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF389880 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK000156 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK123284 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK129764 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC016032 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC022050 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC035883 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC140781 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC144539 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX491117 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471082 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068263 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA484900 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB359904 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HF584000 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000251076   ⟹   ENSP00000251076
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1551,447,711 - 51,622,833 (-)Ensembl
RefSeq Acc Id: ENST00000449909   ⟹   ENSP00000400855
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1551,448,812 - 51,622,635 (-)Ensembl
RefSeq Acc Id: ENST00000543779   ⟹   ENSP00000441858
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1551,447,788 - 51,622,635 (-)Ensembl
RefSeq Acc Id: ENST00000558124
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1551,456,325 - 51,459,782 (-)Ensembl
RefSeq Acc Id: ENST00000558507
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1551,567,043 - 51,622,770 (-)Ensembl
RefSeq Acc Id: ENST00000559059   ⟹   ENSP00000453570
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1551,450,195 - 51,455,213 (-)Ensembl
RefSeq Acc Id: ENST00000559062
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1551,456,313 - 51,458,878 (-)Ensembl
RefSeq Acc Id: ENST00000559498   ⟹   ENSP00000453454
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1551,457,447 - 51,471,350 (-)Ensembl
RefSeq Acc Id: ENST00000559769
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1551,447,791 - 51,450,673 (-)Ensembl
RefSeq Acc Id: ENST00000559868
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1551,453,248 - 51,456,318 (-)Ensembl
RefSeq Acc Id: ENST00000560211
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1551,457,372 - 51,459,190 (-)Ensembl
RefSeq Acc Id: ENST00000560421
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1551,547,332 - 51,603,701 (-)Ensembl
RefSeq Acc Id: ENST00000560891   ⟹   ENSP00000453267
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1551,447,791 - 51,622,771 (-)Ensembl
RefSeq Acc Id: ENST00000561079
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1551,463,076 - 51,471,236 (-)Ensembl
RefSeq Acc Id: NM_001174116   ⟹   NP_001167587
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381551,447,791 - 51,622,771 (-)NCBI
GRCh371551,739,921 - 51,915,030 (-)NCBI
Celera1528,633,317 - 28,808,362 (-)RGD
HuRef1528,569,985 - 28,745,024 (-)ENTREZGENE
CHM1_11551,858,027 - 52,033,010 (-)NCBI
T2T-CHM13v2.01549,255,566 - 49,430,224 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001174117   ⟹   NP_001167588
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381551,447,791 - 51,622,771 (-)NCBI
GRCh371551,739,921 - 51,915,030 (-)NCBI
Celera1528,633,317 - 28,808,362 (-)RGD
HuRef1528,569,985 - 28,745,024 (-)ENTREZGENE
CHM1_11551,858,027 - 52,033,010 (-)NCBI
T2T-CHM13v2.01549,255,566 - 49,430,224 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001378457   ⟹   NP_001365386
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381551,447,791 - 51,622,771 (-)NCBI
T2T-CHM13v2.01549,255,566 - 49,430,224 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001378458   ⟹   NP_001365387
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381551,447,791 - 51,622,771 (-)NCBI
T2T-CHM13v2.01549,255,566 - 49,430,224 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001378459   ⟹   NP_001365388
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381551,447,791 - 51,622,771 (-)NCBI
T2T-CHM13v2.01549,255,566 - 49,430,224 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001378460   ⟹   NP_001365389
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381551,447,791 - 51,622,771 (-)NCBI
T2T-CHM13v2.01549,255,566 - 49,430,224 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001378461   ⟹   NP_001365390
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381551,463,080 - 51,622,771 (-)NCBI
T2T-CHM13v2.01549,270,853 - 49,430,224 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001378462   ⟹   NP_001365391
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381551,463,080 - 51,622,771 (-)NCBI
T2T-CHM13v2.01549,270,853 - 49,430,224 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001378463   ⟹   NP_001365392
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381551,463,080 - 51,622,771 (-)NCBI
T2T-CHM13v2.01549,270,853 - 49,430,224 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001378464   ⟹   NP_001365393
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381551,463,080 - 51,622,771 (-)NCBI
T2T-CHM13v2.01549,270,853 - 49,430,224 (-)NCBI
Sequence:
RefSeq Acc Id: NM_015263   ⟹   NP_056078
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381551,447,791 - 51,622,771 (-)NCBI
GRCh371551,739,921 - 51,915,030 (-)NCBI
Build 361549,527,229 - 49,702,259 (-)NCBI Archive
Celera1528,633,317 - 28,808,362 (-)RGD
HuRef1528,569,985 - 28,745,024 (-)ENTREZGENE
CHM1_11551,858,027 - 52,033,010 (-)NCBI
T2T-CHM13v2.01549,255,566 - 49,430,224 (-)NCBI
Sequence:
RefSeq Acc Id: NR_165648
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381551,447,791 - 51,622,771 (-)NCBI
T2T-CHM13v2.01549,255,566 - 49,430,224 (-)NCBI
Sequence:
RefSeq Acc Id: NR_165649
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381551,447,791 - 51,622,771 (-)NCBI
T2T-CHM13v2.01549,255,566 - 49,430,224 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047432314   ⟹   XP_047288270
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381551,450,260 - 51,622,771 (-)NCBI
RefSeq Acc Id: XM_047432315   ⟹   XP_047288271
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381551,450,258 - 51,622,771 (-)NCBI
RefSeq Acc Id: XM_047432316   ⟹   XP_047288272
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381551,447,791 - 51,576,925 (-)NCBI
RefSeq Acc Id: XM_047432317   ⟹   XP_047288273
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381551,447,791 - 51,622,214 (-)NCBI
RefSeq Acc Id: XM_047432318   ⟹   XP_047288274
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381551,450,258 - 51,622,771 (-)NCBI
RefSeq Acc Id: XM_047432319   ⟹   XP_047288275
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381551,458,516 - 51,622,771 (-)NCBI
RefSeq Acc Id: XM_047432320   ⟹   XP_047288276
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381551,458,516 - 51,622,771 (-)NCBI
RefSeq Acc Id: XM_047432321   ⟹   XP_047288277
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381551,498,237 - 51,622,771 (-)NCBI
RefSeq Acc Id: XM_054377616   ⟹   XP_054233591
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01549,258,035 - 49,430,224 (-)NCBI
RefSeq Acc Id: XM_054377617   ⟹   XP_054233592
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01549,258,033 - 49,430,224 (-)NCBI
RefSeq Acc Id: XM_054377618   ⟹   XP_054233593
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01549,258,033 - 49,430,224 (-)NCBI
RefSeq Acc Id: XM_054377619   ⟹   XP_054233594
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01549,266,291 - 49,430,224 (-)NCBI
RefSeq Acc Id: XM_054377620   ⟹   XP_054233595
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01549,266,291 - 49,430,224 (-)NCBI
RefSeq Acc Id: XM_054377621   ⟹   XP_054233596
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01549,306,012 - 49,430,224 (-)NCBI
RefSeq Acc Id: XR_007064435
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381551,458,751 - 51,622,771 (-)NCBI
RefSeq Acc Id: XR_008488931
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01549,266,526 - 49,430,224 (-)NCBI
Protein Sequences
Protein RefSeqs NP_001167587 (Get FASTA)   NCBI Sequence Viewer  
  NP_001167588 (Get FASTA)   NCBI Sequence Viewer  
  NP_001365386 (Get FASTA)   NCBI Sequence Viewer  
  NP_001365387 (Get FASTA)   NCBI Sequence Viewer  
  NP_001365388 (Get FASTA)   NCBI Sequence Viewer  
  NP_001365389 (Get FASTA)   NCBI Sequence Viewer  
  NP_001365390 (Get FASTA)   NCBI Sequence Viewer  
  NP_001365391 (Get FASTA)   NCBI Sequence Viewer  
  NP_001365392 (Get FASTA)   NCBI Sequence Viewer  
  NP_001365393 (Get FASTA)   NCBI Sequence Viewer  
  NP_056078 (Get FASTA)   NCBI Sequence Viewer  
  XP_047288270 (Get FASTA)   NCBI Sequence Viewer  
  XP_047288271 (Get FASTA)   NCBI Sequence Viewer  
  XP_047288272 (Get FASTA)   NCBI Sequence Viewer  
  XP_047288273 (Get FASTA)   NCBI Sequence Viewer  
  XP_047288274 (Get FASTA)   NCBI Sequence Viewer  
  XP_047288275 (Get FASTA)   NCBI Sequence Viewer  
  XP_047288276 (Get FASTA)   NCBI Sequence Viewer  
  XP_047288277 (Get FASTA)   NCBI Sequence Viewer  
  XP_054233591 (Get FASTA)   NCBI Sequence Viewer  
  XP_054233592 (Get FASTA)   NCBI Sequence Viewer  
  XP_054233593 (Get FASTA)   NCBI Sequence Viewer  
  XP_054233594 (Get FASTA)   NCBI Sequence Viewer  
  XP_054233595 (Get FASTA)   NCBI Sequence Viewer  
  XP_054233596 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH22050 (Get FASTA)   NCBI Sequence Viewer  
  AAI40782 (Get FASTA)   NCBI Sequence Viewer  
  AAI44540 (Get FASTA)   NCBI Sequence Viewer  
  AAL93215 (Get FASTA)   NCBI Sequence Viewer  
  BAA74879 (Get FASTA)   NCBI Sequence Viewer  
  CCQ43497 (Get FASTA)   NCBI Sequence Viewer  
  EAW77420 (Get FASTA)   NCBI Sequence Viewer  
  EAW77421 (Get FASTA)   NCBI Sequence Viewer  
  EAW77422 (Get FASTA)   NCBI Sequence Viewer  
  EAW77423 (Get FASTA)   NCBI Sequence Viewer  
  EAW77424 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000251076
  ENSP00000251076.5
  ENSP00000400855
  ENSP00000400855.3
  ENSP00000441858
  ENSP00000441858.2
  ENSP00000453267
  ENSP00000453267.2
  ENSP00000453454.1
GenBank Protein Q8TDJ6 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_001167587   ⟸   NM_001174116
- Peptide Label: isoform 1
- UniProtKB: Q8TDJ6 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_056078   ⟸   NM_015263
- Peptide Label: isoform 2
- UniProtKB: F5GWF1 (UniProtKB/Swiss-Prot),   B7ZMH3 (UniProtKB/Swiss-Prot),   B2RTR3 (UniProtKB/Swiss-Prot),   O94938 (UniProtKB/Swiss-Prot),   Q8TDJ6 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001167588   ⟸   NM_001174117
- Peptide Label: isoform 3
- UniProtKB: Q8TDJ6 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001365389   ⟸   NM_001378460
- Peptide Label: isoform 7
RefSeq Acc Id: NP_001365387   ⟸   NM_001378458
- Peptide Label: isoform 5
RefSeq Acc Id: NP_001365388   ⟸   NM_001378459
- Peptide Label: isoform 6
RefSeq Acc Id: NP_001365386   ⟸   NM_001378457
- Peptide Label: isoform 4
- UniProtKB: H0YLM8 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001365393   ⟸   NM_001378464
- Peptide Label: isoform 11
RefSeq Acc Id: NP_001365391   ⟸   NM_001378462
- Peptide Label: isoform 9
RefSeq Acc Id: NP_001365392   ⟸   NM_001378463
- Peptide Label: isoform 10
RefSeq Acc Id: NP_001365390   ⟸   NM_001378461
- Peptide Label: isoform 8
RefSeq Acc Id: ENSP00000441858   ⟸   ENST00000543779
RefSeq Acc Id: ENSP00000453454   ⟸   ENST00000559498
RefSeq Acc Id: ENSP00000453570   ⟸   ENST00000559059
RefSeq Acc Id: ENSP00000453267   ⟸   ENST00000560891
RefSeq Acc Id: ENSP00000400855   ⟸   ENST00000449909
RefSeq Acc Id: ENSP00000251076   ⟸   ENST00000251076
RefSeq Acc Id: XP_047288273   ⟸   XM_047432317
- Peptide Label: isoform X3
RefSeq Acc Id: XP_047288272   ⟸   XM_047432316
- Peptide Label: isoform X3
RefSeq Acc Id: XP_047288274   ⟸   XM_047432318
- Peptide Label: isoform X4
RefSeq Acc Id: XP_047288271   ⟸   XM_047432315
- Peptide Label: isoform X2
RefSeq Acc Id: XP_047288270   ⟸   XM_047432314
- Peptide Label: isoform X1
RefSeq Acc Id: XP_047288276   ⟸   XM_047432320
- Peptide Label: isoform X6
RefSeq Acc Id: XP_047288275   ⟸   XM_047432319
- Peptide Label: isoform X5
RefSeq Acc Id: XP_047288277   ⟸   XM_047432321
- Peptide Label: isoform X7
RefSeq Acc Id: XP_054233593   ⟸   XM_054377618
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054233592   ⟸   XM_054377617
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054233591   ⟸   XM_054377616
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054233595   ⟸   XM_054377620
- Peptide Label: isoform X6
RefSeq Acc Id: XP_054233594   ⟸   XM_054377619
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054233596   ⟸   XM_054377621
- Peptide Label: isoform X7
Protein Domains
RAVE complex protein Rav1 C-terminal

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q8TDJ6-F1-model_v2 AlphaFold Q8TDJ6 1-1400 view protein structure
AF-Q8TDJ6-F2-model_v2 AlphaFold Q8TDJ6 201-1600 view protein structure
AF-Q8TDJ6-F3-model_v2 AlphaFold Q8TDJ6 401-1800 view protein structure
AF-Q8TDJ6-F4-model_v2 AlphaFold Q8TDJ6 601-2000 view protein structure
AF-Q8TDJ6-F5-model_v2 AlphaFold Q8TDJ6 801-2200 view protein structure
AF-Q8TDJ6-F6-model_v2 AlphaFold Q8TDJ6 1001-2400 view protein structure
AF-Q8TDJ6-F7-model_v2 AlphaFold Q8TDJ6 1201-2600 view protein structure
AF-Q8TDJ6-F8-model_v2 AlphaFold Q8TDJ6 1401-2800 view protein structure
AF-Q8TDJ6-F9-model_v2 AlphaFold Q8TDJ6 1601-3000 view protein structure
AF-Q8TDJ6-F10-model_v2 AlphaFold Q8TDJ6 1801-3036 view protein structure

Promoters
RGD ID:6810744
Promoter ID:HG_ACW:26216
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:DMXL2.EAPR07
Position:
Human AssemblyChrPosition (strand)Source
Build 361549,682,961 - 49,683,461 (-)MPROMDB
RGD ID:6792213
Promoter ID:HG_KWN:21403
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_001174116,   NM_001174117,   OTTHUMT00000254671,   UC002ABG.2
Position:
Human AssemblyChrPosition (strand)Source
Build 361549,701,761 - 49,703,167 (-)MPROMDB
RGD ID:7229497
Promoter ID:EPDNEW_H20494
Type:initiation region
Name:DMXL2_3
Description:Dmx like 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H20496  EPDNEW_H20495  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381551,622,572 - 51,622,632EPDNEW
RGD ID:7229501
Promoter ID:EPDNEW_H20495
Type:initiation region
Name:DMXL2_1
Description:Dmx like 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H20494  EPDNEW_H20496  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381551,622,763 - 51,622,823EPDNEW
RGD ID:7229499
Promoter ID:EPDNEW_H20496
Type:initiation region
Name:DMXL2_2
Description:Dmx like 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H20494  EPDNEW_H20495  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381551,622,959 - 51,623,019EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:2938 AgrOrtholog
COSMIC DMXL2 COSMIC
Ensembl Genes ENSG00000104093 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000251076 ENTREZGENE
  ENST00000251076.9 UniProtKB/Swiss-Prot
  ENST00000449909 ENTREZGENE
  ENST00000449909.7 UniProtKB/Swiss-Prot
  ENST00000543779 ENTREZGENE
  ENST00000543779.6 UniProtKB/Swiss-Prot
  ENST00000559498.1 UniProtKB/TrEMBL
  ENST00000560891 ENTREZGENE
  ENST00000560891.6 UniProtKB/TrEMBL
Gene3D-CATH 2.130.10.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000104093 GTEx
HGNC ID HGNC:2938 ENTREZGENE
Human Proteome Map DMXL2 Human Proteome Map
InterPro Rav1p_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WD40/YVTN_repeat-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WD40_repeat UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WD40_repeat_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:23312 UniProtKB/Swiss-Prot
NCBI Gene 23312 ENTREZGENE
OMIM 612186 OMIM
PANTHER DMX-LIKE PROTEIN 2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RABCONNECTIN-RELATED UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Rav1p_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WD40 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA27392 PharmGKB
PROSITE WD_REPEATS_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WD_REPEATS_REGION UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART WD40 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF50978 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt B2RTR3 ENTREZGENE
  B7ZMH3 ENTREZGENE
  DMXL2_HUMAN UniProtKB/Swiss-Prot
  F5GWF1 ENTREZGENE
  H0YLM8 ENTREZGENE, UniProtKB/TrEMBL
  H0YM41_HUMAN UniProtKB/TrEMBL
  L8ECF9_HUMAN UniProtKB/TrEMBL
  O94938 ENTREZGENE
  Q8TDJ6 ENTREZGENE
  Q8WTV7_HUMAN UniProtKB/TrEMBL
UniProt Secondary B2RTR3 UniProtKB/Swiss-Prot
  B7ZMH3 UniProtKB/Swiss-Prot
  F5GWF1 UniProtKB/Swiss-Prot
  O94938 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-01-19 DMXL2  Dmx like 2  DMXL2  Dmx-like 2  Symbol and/or name change 5135510 APPROVED