DEAF1 (DEAF1 transcription factor) - Rat Genome Database

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Gene: DEAF1 (DEAF1 transcription factor) Homo sapiens
Analyze
Symbol: DEAF1
Name: DEAF1 transcription factor
RGD ID: 731970
HGNC Page HGNC:14677
Description: Enables DNA-binding transcription repressor activity, RNA polymerase II-specific and RNA polymerase II transcription regulatory region sequence-specific DNA binding activity. Involved in negative regulation of transcription by RNA polymerase II; positive regulation of DNA-templated transcription; and regulation of mammary gland epithelial cell proliferation. Located in cytoplasm; fibrillar center; and nucleoplasm. Implicated in Vulto-van Silfout-de Vries syndrome.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: deaf-1 related transcriptional regulator (nudr); DEAF1, transcription factor; deformed epidermal autoregulatory factor 1 homolog; MRD24; NEDHELS; nuclear DEAF-1-related transcriptional regulator; NUDR; SPN; suppressin; VSVS; zinc finger MYND domain-containing protein 5; ZMYND5
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3811644,220 - 707,083 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl11644,233 - 707,118 (-)EnsemblGRCh38hg38GRCh38
GRCh3711644,220 - 707,083 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3611634,225 - 685,740 (-)NCBINCBI36Build 36hg18NCBI36
Build 3411634,224 - 685,740NCBI
Cytogenetic Map11p15.5NCBI
HuRef11460,942 - 512,153 (-)NCBIHuRef
CHM1_111643,451 - 694,662 (-)NCBICHM1_1
T2T-CHM13v2.011694,847 - 758,083 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
2-3 toe cutaneous syndactyly  (IAGP)
Abnormal cardiovascular system morphology  (IAGP)
Abnormal form of the vertebral bodies  (IAGP)
Abnormal localization of kidney  (IAGP)
Abnormal tracheobronchial morphology  (IAGP)
Abnormality of pain sensation  (IAGP)
Abnormality of speech or vocalization  (IAGP)
Abnormality of the ureter  (IAGP)
Absent speech  (IAGP)
Aggressive behavior  (IAGP)
Agitation  (IAGP)
Anteverted nares  (IAGP)
Anxiety  (IAGP)
Aplasia/Hypoplasia of the corpus callosum  (IAGP)
Attention deficit hyperactivity disorder  (IAGP)
Autism  (IAGP)
Autistic behavior  (IAGP)
Autosomal dominant inheritance  (IAGP)
Autosomal recessive inheritance  (IAGP)
Bilateral tonic-clonic seizure  (IAGP)
Brachycephaly  (IAGP)
Brachydactyly  (IAGP)
Brain imaging abnormality  (IAGP)
Broad forehead  (IAGP)
Broad-based gait  (IAGP)
Chronic otitis media  (IAGP)
Cleft palate  (IAGP)
Cleft upper lip  (IAGP)
Clinodactyly of the 5th finger  (IAGP)
Clumsiness  (IAGP)
Conductive hearing impairment  (IAGP)
Constipation  (IAGP)
Corticospinal tract hypoplasia  (IAGP)
Decreased fetal movement  (IAGP)
Deeply set eye  (IAGP)
Delayed eruption of primary teeth  (IAGP)
Delayed puberty  (IAGP)
Delayed speech and language development  (IAGP)
Depressed nasal bridge  (IAGP)
Developmental regression  (IAGP)
Drooling  (IAGP)
Dyskinesia  (IAGP)
EEG abnormality  (IAGP)
Emotional lability  (IAGP)
Epicanthus  (IAGP)
Failure to thrive in infancy  (IAGP)
Feeding difficulties  (IAGP)
Feeding difficulties in infancy  (IAGP)
Fine hair  (IAGP)
Flat face  (IAGP)
Frontal bossing  (IAGP)
Gait ataxia  (IAGP)
Gait disturbance  (IAGP)
Gait imbalance  (IAGP)
Gastroesophageal reflux  (IAGP)
Global developmental delay  (IAGP)
Hand polydactyly  (IAGP)
High palate  (IAGP)
Hoarse voice  (IAGP)
Horizontal eyebrow  (IAGP)
Hyperacusis  (IAGP)
Hypercholesterolemia  (IAGP)
Hypertelorism  (IAGP)
Hypertriglyceridemia  (IAGP)
Hyporeflexia  (IAGP)
Hypothyroidism  (IAGP)
Hypotonia  (IAGP)
Impaired pain sensation  (IAGP)
Infantile muscular hypotonia  (IAGP)
Infantile onset  (IAGP)
Intellectual disability  (IAGP)
Involuntary movements  (IAGP)
Joint hypermobility  (IAGP)
Joint stiffness  (IAGP)
Large face  (IAGP)
Macrocephaly  (IAGP)
Malar flattening  (IAGP)
Mandibular prognathia  (IAGP)
Microcephaly  (IAGP)
Microcornea  (IAGP)
Micrognathia  (IAGP)
Midface retrusion  (IAGP)
Motor delay  (IAGP)
Motor stereotypy  (IAGP)
Myopia  (IAGP)
Neurodevelopmental delay  (IAGP)
Obesity  (IAGP)
Open mouth  (IAGP)
Pain insensitivity  (IAGP)
Peripheral neuropathy  (IAGP)
Pes planus  (IAGP)
Poor fine motor coordination  (IAGP)
Precocious puberty  (IAGP)
Prominent fingertip pads  (IAGP)
Prostate cancer  (IAGP)
Recurrent infections  (IAGP)
Reduced eye contact  (IAGP)
Renal hypoplasia/aplasia  (IAGP)
Retinal detachment  (IAGP)
Sacral dimple  (IAGP)
Scoliosis  (IAGP)
Seizure  (IAGP)
Self-injurious behavior  (IAGP)
Severe global developmental delay  (IAGP)
Short nose  (IAGP)
Short philtrum  (IAGP)
Short stature  (IAGP)
Sleep abnormality  (IAGP)
Status epilepticus  (IAGP)
Strabismus  (IAGP)
Synophrys  (IAGP)
Taurodontia  (IAGP)
Tented upper lip vermilion  (IAGP)
Thick lower lip vermilion  (IAGP)
Thin upper lip vermilion  (IAGP)
Tip-toe gait  (IAGP)
Toe syndactyly  (IAGP)
Tooth malposition  (IAGP)
Unsteady gait  (IAGP)
Upslanted palpebral fissure  (IAGP)
Ventriculomegaly  (IAGP)
Waddling gait  (IAGP)
Wide nasal bridge  (IAGP)
Widow's peak  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Characterization of a nuclear deformed epidermal autoregulatory factor-1 (DEAF-1)-related (NUDR) transcriptional regulator protein. Huggenvik JI, etal., Mol Endocrinol 1998 Oct;12(10):1619-39.
3. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
4. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
5. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
6. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:8889548   PMID:9417089   PMID:10521432   PMID:11427895   PMID:11705868   PMID:11751867   PMID:12477932   PMID:15161925   PMID:15302935   PMID:15489334   PMID:16169070   PMID:16467535  
PMID:18561871   PMID:18826651   PMID:19274049   PMID:19565498   PMID:19668219   PMID:20226168   PMID:20368287   PMID:21076407   PMID:21653829   PMID:21873635   PMID:21900206   PMID:21988832  
PMID:22321011   PMID:22328058   PMID:22442688   PMID:23080069   PMID:23372760   PMID:23825960   PMID:23846693   PMID:24668509   PMID:24726472   PMID:25187368   PMID:26048982   PMID:26271982  
PMID:26743651   PMID:26834045   PMID:28213671   PMID:28514442   PMID:28940898   PMID:29636529   PMID:30804502   PMID:30824926   PMID:30923367   PMID:31145909   PMID:31741433   PMID:32296183  
PMID:32513696   PMID:32814053   PMID:33705764   PMID:33961781   PMID:35140242   PMID:36089195   PMID:36373674   PMID:37689310   PMID:37958600  


Genomics

Comparative Map Data
DEAF1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3811644,220 - 707,083 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl11644,233 - 707,118 (-)EnsemblGRCh38hg38GRCh38
GRCh3711644,220 - 707,083 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3611634,225 - 685,740 (-)NCBINCBI36Build 36hg18NCBI36
Build 3411634,224 - 685,740NCBI
Cytogenetic Map11p15.5NCBI
HuRef11460,942 - 512,153 (-)NCBIHuRef
CHM1_111643,451 - 694,662 (-)NCBICHM1_1
T2T-CHM13v2.011694,847 - 758,083 (-)NCBIT2T-CHM13v2.0
Deaf1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm397140,877,089 - 140,918,758 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl7140,877,093 - 140,907,603 (-)EnsemblGRCm39 Ensembl
GRCm387141,297,176 - 141,338,869 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl7141,297,180 - 141,327,690 (-)EnsemblGRCm38mm10GRCm38
MGSCv377148,483,075 - 148,524,682 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv367141,148,505 - 141,178,895 (-)NCBIMGSCv36mm8
Celera7141,090,924 - 141,132,561 (-)NCBICelera
Cytogenetic Map7F5NCBI
cM Map786.61NCBI
Deaf1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81205,831,428 - 205,865,106 (-)NCBIGRCr8
mRatBN7.21196,401,857 - 196,435,541 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1196,401,857 - 196,435,541 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1204,747,278 - 204,780,898 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01211,874,080 - 211,907,780 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01204,548,216 - 204,581,918 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01214,283,787 - 214,317,466 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1214,283,790 - 214,317,466 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01221,201,334 - 221,234,579 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41201,491,091 - 201,524,767 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11201,642,425 - 201,679,478 (-)NCBI
Celera1194,035,728 - 194,069,227 (-)NCBICelera
Cytogenetic Map1q41NCBI
Deaf1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495547611,398,448 - 11,423,654 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495547611,398,187 - 11,422,633 (+)NCBIChiLan1.0ChiLan1.0
DEAF1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v293,025,522 - 3,089,277 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1112,241,646 - 2,301,460 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v011652,337 - 709,854 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.111679,074 - 753,395 (-)NCBIpanpan1.1PanPan1.1panPan2
DEAF1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11825,711,683 - 25,733,144 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1825,711,706 - 25,733,069 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1825,382,588 - 25,403,978 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01826,318,212 - 26,339,654 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1826,318,216 - 26,339,646 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11825,827,765 - 25,849,168 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01825,472,793 - 25,494,209 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01826,085,115 - 26,106,510 (-)NCBIUU_Cfam_GSD_1.0
Deaf1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404947473,651 - 497,152 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936888473,974 - 497,158 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936888473,651 - 497,152 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
DEAF1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl2404,533 - 427,542 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.12404,514 - 427,584 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.22246,503 - 269,570 (+)NCBISscrofa10.2Sscrofa10.2susScr3
DEAF1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11487,497 - 510,440 (-)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366603897,524,197 - 97,571,811 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Deaf1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462476621,799,119 - 21,833,631 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462476621,799,282 - 21,832,267 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in DEAF1
716 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_021008.4(DEAF1):c.774C>T (p.Tyr258=) single nucleotide variant DEAF1-related condition [RCV003925538]|Intellectual disability, autosomal dominant 24 [RCV002490881]|not provided [RCV000877979]|not specified [RCV000516722] Chr11:686888 [GRCh38]
Chr11:686888 [GRCh37]
Chr11:11p15.5		 benign|likely benign
NM_021008.4(DEAF1):c.1014G>A (p.Ser338=) single nucleotide variant not provided [RCV001982681] Chr11:679800 [GRCh38]
Chr11:679800 [GRCh37]
Chr11:11p15.5		 likely benign|uncertain significance
NM_021008.4(DEAF1):c.1609C>T (p.Gln537Ter) single nucleotide variant Inborn genetic diseases [RCV002526939]|not provided [RCV000579278] Chr11:644639 [GRCh38]
Chr11:644639 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.1577C>T (p.Thr526Ile) single nucleotide variant Intellectual disability-epilepsy-extrapyramidal syndrome [RCV001196879] Chr11:653978 [GRCh38]
Chr11:653978 [GRCh37]
Chr11:11p15.5		 uncertain significance
GRCh38/hg38 11p15.5-15.4(chr11:196966-3377077)x3 copy number gain See cases [RCV000050947] Chr11:196966..3377077 [GRCh38]
Chr11:196966..3398307 [GRCh37]
Chr11:186966..3354883 [NCBI36]
Chr11:11p15.5-15.4		 pathogenic
GRCh38/hg38 11p15.5-15.4(chr11:196966-4435344)x3 copy number gain See cases [RCV000050927] Chr11:196966..4435344 [GRCh38]
Chr11:196966..4456574 [GRCh37]
Chr11:186966..4413150 [NCBI36]
Chr11:11p15.5-15.4		 pathogenic
GRCh38/hg38 11p15.5-15.4(chr11:218365-3377077)x3 copy number gain See cases [RCV000053614] Chr11:218365..3377077 [GRCh38]
Chr11:218365..3398307 [GRCh37]
Chr11:208365..3354883 [NCBI36]
Chr11:11p15.5-15.4		 pathogenic
GRCh38/hg38 11p15.5-15.4(chr11:196966-3624139)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053592]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053592]|See cases [RCV000053592] Chr11:196966..3624139 [GRCh38]
Chr11:196966..3645369 [GRCh37]
Chr11:186966..3601945 [NCBI36]
Chr11:11p15.5-15.4		 pathogenic
GRCh38/hg38 11p15.5-13(chr11:202758-31726224)x3 copy number gain See cases [RCV000053613] Chr11:202758..31726224 [GRCh38]
Chr11:202758..31747772 [GRCh37]
Chr11:192758..31704348 [NCBI36]
Chr11:11p15.5-13		 pathogenic
NM_021008.4(DEAF1):c.683T>G (p.Ile228Ser) single nucleotide variant Intellectual disability, autosomal dominant 24 [RCV000119804] Chr11:686979 [GRCh38]
Chr11:686979 [GRCh37]
Chr11:11p15.5		 pathogenic
NM_021008.4(DEAF1):c.791A>C (p.Gln264Pro) single nucleotide variant Intellectual disability, autosomal dominant 24 [RCV000119805] Chr11:686871 [GRCh38]
Chr11:686871 [GRCh37]
Chr11:11p15.5		 pathogenic|uncertain significance
NM_021008.4(DEAF1):c.670C>T (p.Arg224Trp) single nucleotide variant Intellectual disability, autosomal dominant 24 [RCV000119806]|not provided [RCV001310582] Chr11:686992 [GRCh38]
Chr11:686992 [GRCh37]
Chr11:11p15.5		 pathogenic|likely pathogenic
NM_021008.4(DEAF1):c.762A>C (p.Arg254Ser) single nucleotide variant DEAF1-Related Disorder [RCV003233107]|Intellectual disability, autosomal dominant 24 [RCV000119807]|not provided [RCV002514609] Chr11:686900 [GRCh38]
Chr11:686900 [GRCh37]
Chr11:11p15.5		 pathogenic|not provided
NM_021008.4(DEAF1):c.1526G>A (p.Arg509Gln) single nucleotide variant Inborn genetic diseases [RCV004019789]|Malignant tumor of prostate [RCV000149279]|not provided [RCV003698747] Chr11:654029 [GRCh38]
Chr11:654029 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.676C>T (p.Arg226Trp) single nucleotide variant Inborn genetic diseases [RCV000622720]|Intellectual disability-epilepsy-extrapyramidal syndrome [RCV000515525]|not provided [RCV003556179] Chr11:686986 [GRCh38]
Chr11:686986 [GRCh37]
Chr11:11p15.5		 pathogenic|likely pathogenic|uncertain significance
GRCh38/hg38 11p15.5-15.1(chr11:446754-18904742)x3 copy number gain See cases [RCV000133997] Chr11:446754..18904742 [GRCh38]
Chr11:446754..18926289 [GRCh37]
Chr11:436754..18882865 [NCBI36]
Chr11:11p15.5-15.1		 pathogenic
GRCh38/hg38 11p15.5-15.4(chr11:61793-10727969)x3 copy number gain See cases [RCV000139987] Chr11:61793..10727969 [GRCh38]
Chr11:61793..10749516 [GRCh37]
Chr11:51793..10706092 [NCBI36]
Chr11:11p15.5-15.4		 pathogenic
GRCh38/hg38 11p15.5-15.4(chr11:196855-5321874)x3 copy number gain See cases [RCV000142890] Chr11:196855..5321874 [GRCh38]
Chr11:196855..5343104 [GRCh37]
Chr11:186855..5299680 [NCBI36]
Chr11:11p15.5-15.4		 pathogenic
GRCh38/hg38 11p15.5(chr11:196855-2116185)x3 copy number gain See cases [RCV000142923] Chr11:196855..2116185 [GRCh38]
Chr11:196855..2137415 [GRCh37]
Chr11:186855..2093991 [NCBI36]
Chr11:11p15.5		 pathogenic
GRCh37/hg19 11p15.5(chr11:532230-699463)x3 copy number gain See cases [RCV000240134] Chr11:532230..699463 [GRCh37]
Chr11:11p15.5		 uncertain significance
GRCh37/hg19 11p15.5-15.4(chr11:193187-5291338)x3 copy number gain See cases [RCV000446036] Chr11:193187..5291338 [GRCh37]
Chr11:11p15.5-15.4		 pathogenic
NM_021008.4(DEAF1):c.255C>T (p.Gly85=) single nucleotide variant not provided [RCV002112433] Chr11:694793 [GRCh38]
Chr11:694793 [GRCh37]
Chr11:11p15.5		 likely benign
GRCh37/hg19 11p15.5(chr11:680365-827724)x3 copy number gain See cases [RCV000239908] Chr11:680365..827724 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.997+4A>C single nucleotide variant Intellectual disability, autosomal dominant 24 [RCV000761507]|Intellectual disability-epilepsy-extrapyramidal syndrome [RCV000258057] Chr11:680959 [GRCh38]
Chr11:680959 [GRCh37]
Chr11:11p15.5		 pathogenic|not provided
NM_021008.4(DEAF1):c.1503+37C>T single nucleotide variant Intellectual disability, autosomal dominant 24 [RCV001544190]|Intellectual disability-epilepsy-extrapyramidal syndrome [RCV001544189] Chr11:674499 [GRCh38]
Chr11:674499 [GRCh37]
Chr11:11p15.5		 benign
GRCh37/hg19 11p15.5(chr11:268586-748873) copy number loss Beckwith-Wiedemann syndrome due to 11p15 microdeletion [RCV003319587] Chr11:268586..748873 [GRCh37]
Chr11:11p15.5		 pathogenic
NM_021008.4(DEAF1):c.871-3C>T single nucleotide variant not provided [RCV000585297] Chr11:681092 [GRCh38]
Chr11:681092 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.1102G>C (p.Gly368Arg) single nucleotide variant not provided [RCV003321101] Chr11:679712 [GRCh38]
Chr11:679712 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.1280C>T (p.Ala427Val) single nucleotide variant not provided [RCV003315050] Chr11:674759 [GRCh38]
Chr11:674759 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.1396A>G (p.Thr466Ala) single nucleotide variant not provided [RCV000592681] Chr11:674643 [GRCh38]
Chr11:674643 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.667G>A (p.Gly223Ser) single nucleotide variant Intellectual disability-epilepsy-extrapyramidal syndrome [RCV001197437]|Obesity [RCV000415315]|not provided [RCV000479610] Chr11:686995 [GRCh38]
Chr11:686995 [GRCh37]
Chr11:11p15.5		 likely benign|uncertain significance
NM_021008.4(DEAF1):c.804+6G>A single nucleotide variant not provided [RCV000729061] Chr11:686852 [GRCh38]
Chr11:686852 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.664+1G>T single nucleotide variant Intellectual disability, autosomal dominant 24 [RCV001171483] Chr11:687910 [GRCh38]
Chr11:687910 [GRCh37]
Chr11:11p15.5		 pathogenic
NM_021008.4(DEAF1):c.815_817delinsG (p.Leu272_Asn273delinsTer) indel Intellectual disability, autosomal dominant 24 [RCV001171484] Chr11:684951..684953 [GRCh38]
Chr11:684951..684953 [GRCh37]
Chr11:11p15.5		 pathogenic
NM_021008.4(DEAF1):c.1104_1105dup (p.Asp369fs) duplication Intellectual disability-epilepsy-extrapyramidal syndrome [RCV001171485]|not provided [RCV003727940] Chr11:679708..679709 [GRCh38]
Chr11:679708..679709 [GRCh37]
Chr11:11p15.5		 pathogenic
GRCh37/hg19 11p15.5-15.4(chr11:230615-6644927)x3 copy number gain See cases [RCV000449417] Chr11:230615..6644927 [GRCh37]
Chr11:11p15.5-15.4		 pathogenic
GRCh37/hg19 11p15.5(chr11:662668-699404)x1 copy number loss See cases [RCV000447290] Chr11:662668..699404 [GRCh37]
Chr11:11p15.5		 benign
NM_021008.4(DEAF1):c.700T>G (p.Trp234Gly) single nucleotide variant not provided [RCV000443903] Chr11:686962 [GRCh38]
Chr11:686962 [GRCh37]
Chr11:11p15.5		 pathogenic|likely pathogenic
GRCh37/hg19 11p15.5(chr11:532230-699404)x3 copy number gain See cases [RCV000445988] Chr11:532230..699404 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.1544G>A (p.Cys515Tyr) single nucleotide variant not provided [RCV000426775] Chr11:654011 [GRCh38]
Chr11:654011 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.776C>T (p.Ala259Val) single nucleotide variant Intellectual disability, autosomal dominant 24 [RCV000723314]|not provided [RCV002533074] Chr11:686886 [GRCh38]
Chr11:686886 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.634G>A (p.Gly212Ser) single nucleotide variant Intellectual disability, autosomal dominant 24 [RCV000417021]|Intellectual disability, autosomal dominant 24 [RCV001788214]|Neurodevelopmental delay [RCV002274025]|not provided [RCV000493974] Chr11:687941 [GRCh38]
Chr11:687941 [GRCh37]
Chr11:11p15.5		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|not provided
NM_021008.4(DEAF1):c.701G>A (p.Trp234Ter) single nucleotide variant Intellectual disability-epilepsy-extrapyramidal syndrome [RCV001171487]|not provided [RCV000484156] Chr11:686961 [GRCh38]
Chr11:686961 [GRCh37]
Chr11:11p15.5		 pathogenic|uncertain significance
NM_021008.4(DEAF1):c.1096G>A (p.Ala366Thr) single nucleotide variant not provided [RCV000485840] Chr11:679718 [GRCh38]
Chr11:679718 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.1588C>T (p.Arg530Cys) single nucleotide variant not provided [RCV000481837] Chr11:653967 [GRCh38]
Chr11:653967 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.767T>A (p.Ile256Asn) single nucleotide variant not provided [RCV000485882] Chr11:686895 [GRCh38]
Chr11:686895 [GRCh37]
Chr11:11p15.5		 likely pathogenic
NM_021008.4(DEAF1):c.716A>G (p.Glu239Gly) single nucleotide variant Intellectual disability, autosomal dominant 24 [RCV000988467]|Intellectual disability-epilepsy-extrapyramidal syndrome [RCV001171488]|not provided [RCV000482280] Chr11:686946 [GRCh38]
Chr11:686946 [GRCh37]
Chr11:11p15.5		 pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_021008.4(DEAF1):c.1307C>T (p.Ala436Val) single nucleotide variant not provided [RCV000482531] Chr11:674732 [GRCh38]
Chr11:674732 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.1580_1582del (p.Phe527del) deletion not provided [RCV000486836] Chr11:653973..653975 [GRCh38]
Chr11:653973..653975 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.130del (p.Arg44fs) deletion not provided [RCV000478368] Chr11:694918 [GRCh38]
Chr11:694918 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.759AAG[1] (p.Arg254del) microsatellite not provided [RCV000487400] Chr11:686898..686900 [GRCh38]
Chr11:686898..686900 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.72_95del (p.Val25_Ala32del) deletion DEAF1-related condition [RCV003902766]|not provided [RCV002527237]|not specified [RCV000503371] Chr11:694953..694976 [GRCh38]
Chr11:694953..694976 [GRCh37]
Chr11:11p15.5		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_021008.4(DEAF1):c.1388T>C (p.Leu463Ser) single nucleotide variant not specified [RCV000503587] Chr11:674651 [GRCh38]
Chr11:674651 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.99A>C (p.Ala33=) single nucleotide variant not provided [RCV002056843]|not specified [RCV000501477] Chr11:694949 [GRCh38]
Chr11:694949 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.1123A>G (p.Thr375Ala) single nucleotide variant Intellectual disability, autosomal dominant 24 [RCV000496316] Chr11:679691 [GRCh38]
Chr11:679691 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.294G>A (p.Val98=) single nucleotide variant not provided [RCV002524176]|not specified [RCV000501997] Chr11:691594 [GRCh38]
Chr11:691594 [GRCh37]
Chr11:11p15.5		 likely benign|uncertain significance
NM_021008.4(DEAF1):c.727A>G (p.Met243Val) single nucleotide variant DEAF1-related condition [RCV003925458]|not provided [RCV000878795]|not specified [RCV000499865] Chr11:686935 [GRCh38]
Chr11:686935 [GRCh37]
Chr11:11p15.5		 benign|likely benign
NM_021008.4(DEAF1):c.219C>A (p.Pro73=) single nucleotide variant not specified [RCV000499760] Chr11:694829 [GRCh38]
Chr11:694829 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.1350G>T (p.Pro450=) single nucleotide variant not specified [RCV000499885] Chr11:674689 [GRCh38]
Chr11:674689 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.56T>C (p.Val19Ala) single nucleotide variant DEAF1-related condition [RCV003942627]|Intellectual disability-epilepsy-extrapyramidal syndrome [RCV001356171]|not provided [RCV001857089]|not specified [RCV000502415] Chr11:694992 [GRCh38]
Chr11:694992 [GRCh37]
Chr11:11p15.5		 likely benign|uncertain significance
NM_021008.4(DEAF1):c.56_82del (p.Val19_Ala27del) deletion not provided [RCV002524177]|not specified [RCV000500324] Chr11:694966..694992 [GRCh38]
Chr11:694966..694992 [GRCh37]
Chr11:11p15.5		 conflicting interpretations of pathogenicity|uncertain significance
NM_021008.4(DEAF1):c.231C>T (p.Asp77=) single nucleotide variant not provided [RCV000952209]|not specified [RCV000502818] Chr11:694817 [GRCh38]
Chr11:694817 [GRCh37]
Chr11:11p15.5		 benign|likely benign
NM_021008.4(DEAF1):c.1320G>A (p.Ala440=) single nucleotide variant not provided [RCV001851407]|not specified [RCV000500709] Chr11:674719 [GRCh38]
Chr11:674719 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.1634C>G (p.Ala545Gly) single nucleotide variant not provided [RCV000711423]|not specified [RCV000503037] Chr11:644614 [GRCh38]
Chr11:644614 [GRCh37]
Chr11:11p15.5		 benign|likely benign
GRCh37/hg19 11p15.5-12(chr11:230615-37698540)x3 copy number gain See cases [RCV000511561] Chr11:230615..37698540 [GRCh37]
Chr11:11p15.5-12		 pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470) copy number gain See cases [RCV000511729] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3 copy number gain See cases [RCV000510881] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
GRCh37/hg19 11p15.5-15.3(chr11:193146-12643136) copy number gain Silver-Russell syndrome 1 [RCV000767567] Chr11:193146..12643136 [GRCh37]
Chr11:11p15.5-15.3		 pathogenic
NM_021008.4(DEAF1):c.80C>A (p.Ala27Glu) single nucleotide variant Inborn genetic diseases [RCV000623657] Chr11:694968 [GRCh38]
Chr11:694968 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.13G>A (p.Asp5Asn) single nucleotide variant Inborn genetic diseases [RCV003287824]|not provided [RCV003575065] Chr11:695035 [GRCh38]
Chr11:695035 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.737G>C (p.Arg246Thr) single nucleotide variant Intellectual disability, autosomal dominant 24 [RCV000515532] Chr11:686925 [GRCh38]
Chr11:686925 [GRCh37]
Chr11:11p15.5		 pathogenic|likely pathogenic
NM_021008.4(DEAF1):c.108G>T (p.Glu36Asp) single nucleotide variant Inborn genetic diseases [RCV000624239]|not provided [RCV001860438] Chr11:694940 [GRCh38]
Chr11:694940 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.576C>A (p.Tyr192Ter) single nucleotide variant Inborn genetic diseases [RCV000624529] Chr11:687999 [GRCh38]
Chr11:687999 [GRCh37]
Chr11:11p15.5		 pathogenic
NM_021008.4(DEAF1):c.890T>C (p.Phe297Ser) single nucleotide variant Inborn genetic diseases [RCV000622273]|not provided [RCV002531912] Chr11:681070 [GRCh38]
Chr11:681070 [GRCh37]
Chr11:11p15.5		 conflicting interpretations of pathogenicity|uncertain significance
NM_021008.4(DEAF1):c.1652A>G (p.Asp551Gly) single nucleotide variant not provided [RCV000584980] Chr11:644596 [GRCh38]
Chr11:644596 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.674G>T (p.Gly225Val) single nucleotide variant Autism, susceptiblity to [RCV003313021] Chr11:686988 [GRCh38]
Chr11:686988 [GRCh37]
Chr11:11p15.5		 pathogenic
NM_021008.4(DEAF1):c.700T>A (p.Trp234Arg) single nucleotide variant Intellectual disability, autosomal dominant 24 [RCV000515517] Chr11:686962 [GRCh38]
Chr11:686962 [GRCh37]
Chr11:11p15.5		 likely pathogenic
NM_021008.4(DEAF1):c.910AAG[1] (p.Lys305del) microsatellite Intellectual disability, autosomal dominant 24 [RCV000515527] Chr11:681045..681047 [GRCh38]
Chr11:681045..681047 [GRCh37]
Chr11:11p15.5		 likely pathogenic
GRCh37/hg19 11p15.5-14.3(chr11:230615-25584362)x3 copy number gain See cases [RCV000512225] Chr11:230615..25584362 [GRCh37]
Chr11:11p15.5-14.3		 pathogenic
NM_021008.4(DEAF1):c.1209C>T (p.Ile403=) single nucleotide variant not provided [RCV000512849] Chr11:678740 [GRCh38]
Chr11:678740 [GRCh37]
Chr11:11p15.5		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_021008.4(DEAF1):c.658G>A (p.Gly220Ser) single nucleotide variant Inborn genetic diseases [RCV000623426]|Intellectual disability [RCV001260604]|not provided [RCV000994532] Chr11:687917 [GRCh38]
Chr11:687917 [GRCh37]
Chr11:11p15.5		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 11p15.5-13(chr11:230615-31995219)x3 copy number gain See cases [RCV000512477] Chr11:230615..31995219 [GRCh37]
Chr11:11p15.5-13		 pathogenic
NM_021008.4(DEAF1):c.1450C>T (p.Arg484Ter) single nucleotide variant not provided [RCV001813868] Chr11:674589 [GRCh38]
Chr11:674589 [GRCh37]
Chr11:11p15.5		 pathogenic|likely pathogenic
GRCh37/hg19 11p15.5-15.4(chr11:230615-9704511)x3 copy number gain not provided [RCV000683369] Chr11:230615..9704511 [GRCh37]
Chr11:11p15.5-15.4		 pathogenic
GRCh37/hg19 11p15.5-15.1(chr11:230615-17099213)x3 copy number gain not provided [RCV000683372] Chr11:230615..17099213 [GRCh37]
Chr11:11p15.5-15.1		 pathogenic
NM_021008.4(DEAF1):c.1186G>A (p.Gly396Ser) single nucleotide variant DEAF1-related condition [RCV003938051]|Inborn genetic diseases [RCV002532912]|Intellectual disability-epilepsy-extrapyramidal syndrome [RCV001836871]|not provided [RCV000711416] Chr11:678763 [GRCh38]
Chr11:678763 [GRCh37]
Chr11:11p15.5		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_021008.4(DEAF1):c.1504-460C>T single nucleotide variant not provided [RCV000711417] Chr11:654511 [GRCh38]
Chr11:654511 [GRCh37]
Chr11:11p15.5		 benign
NM_021008.4(DEAF1):c.1401G>A (p.Ala467=) single nucleotide variant not provided [RCV000711418] Chr11:674638 [GRCh38]
Chr11:674638 [GRCh37]
Chr11:11p15.5		 benign
NM_021008.4(DEAF1):c.882C>G (p.Val294=) single nucleotide variant not provided [RCV000711425] Chr11:681078 [GRCh38]
Chr11:681078 [GRCh37]
Chr11:11p15.5		 benign
NM_021008.4(DEAF1):c.1488C>T (p.Asp496=) single nucleotide variant not provided [RCV000711419] Chr11:674551 [GRCh38]
Chr11:674551 [GRCh37]
Chr11:11p15.5		 benign
NM_021008.4(DEAF1):c.1512C>T (p.Cys504=) single nucleotide variant not provided [RCV000711420] Chr11:654043 [GRCh38]
Chr11:654043 [GRCh37]
Chr11:11p15.5		 benign
NM_021008.4(DEAF1):c.1587A>G (p.Gln529=) single nucleotide variant not provided [RCV000711421] Chr11:653968 [GRCh38]
Chr11:653968 [GRCh37]
Chr11:11p15.5		 benign
NM_021008.4(DEAF1):c.1621G>A (p.Gly541Ser) single nucleotide variant Intellectual disability, autosomal dominant 24 [RCV000763758]|not provided [RCV000711422] Chr11:644627 [GRCh38]
Chr11:644627 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.549C>T (p.Pro183=) single nucleotide variant not provided [RCV000711424] Chr11:688026 [GRCh38]
Chr11:688026 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.1503+78C>T single nucleotide variant Intellectual disability, autosomal dominant 24 [RCV001544188]|Intellectual disability-epilepsy-extrapyramidal syndrome [RCV001544187] Chr11:674458 [GRCh38]
Chr11:674458 [GRCh37]
Chr11:11p15.5		 benign
GRCh37/hg19 11p15.5-q25(chr11:198510-134934063)x3 copy number gain not provided [RCV000737348] Chr11:198510..134934063 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
GRCh37/hg19 11p15.5-q25(chr11:70864-134938470)x3 copy number gain not provided [RCV000749874] Chr11:70864..134938470 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
NM_021008.4(DEAF1):c.664+2T>G single nucleotide variant Autism spectrum disorder [RCV000754682] Chr11:687909 [GRCh38]
Chr11:687909 [GRCh37]
Chr11:11p15.5		 likely pathogenic
GRCh37/hg19 11p15.5(chr11:381754-821676)x3 copy number gain not provided [RCV000749876] Chr11:381754..821676 [GRCh37]
Chr11:11p15.5		 benign
GRCh37/hg19 11p15.5(chr11:556531-927020)x3 copy number gain not provided [RCV000749890] Chr11:556531..927020 [GRCh37]
Chr11:11p15.5		 benign
NM_021008.4(DEAF1):c.1504-40C>T single nucleotide variant Intellectual disability, autosomal dominant 24 [RCV001544184]|Intellectual disability-epilepsy-extrapyramidal syndrome [RCV001544183] Chr11:654091 [GRCh38]
Chr11:654091 [GRCh37]
Chr11:11p15.5		 benign
NM_021008.4(DEAF1):c.959A>G (p.Lys320Arg) single nucleotide variant Inborn genetic diseases [RCV002549769]|not provided [RCV000991879] Chr11:681001 [GRCh38]
Chr11:681001 [GRCh37]
Chr11:11p15.5		 likely benign|uncertain significance
NM_021008.4(DEAF1):c.84_98del (p.Ala29_Ala33del) deletion Intellectual disability, autosomal dominant 24 [RCV000988468] Chr11:694950..694964 [GRCh38]
Chr11:694950..694964 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.851G>A (p.Cys284Tyr) single nucleotide variant not provided [RCV000994530] Chr11:684917 [GRCh38]
Chr11:684917 [GRCh37]
Chr11:11p15.5		 likely pathogenic
NM_021008.4(DEAF1):c.518-34G>A single nucleotide variant Intellectual disability, autosomal dominant 24 [RCV001544196]|Intellectual disability-epilepsy-extrapyramidal syndrome [RCV001544195] Chr11:688091 [GRCh38]
Chr11:688091 [GRCh37]
Chr11:11p15.5		 benign
NM_021008.4(DEAF1):c.613G>C (p.Val205Leu) single nucleotide variant Intellectual disability, autosomal dominant 24 [RCV001724758] Chr11:687962 [GRCh38]
Chr11:687962 [GRCh37]
Chr11:11p15.5		 likely pathogenic
NM_021008.4(DEAF1):c.316G>A (p.Val106Met) single nucleotide variant not provided [RCV001813122] Chr11:691572 [GRCh38]
Chr11:691572 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.825C>T (p.His275=) single nucleotide variant DEAF1-related condition [RCV003970649]|not provided [RCV000945685]|not specified [RCV001818926] Chr11:684943 [GRCh38]
Chr11:684943 [GRCh37]
Chr11:11p15.5		 benign|likely benign
NM_021008.4(DEAF1):c.1256-6C>T single nucleotide variant DEAF1-related condition [RCV003968241]|not provided [RCV000900327] Chr11:674789 [GRCh38]
Chr11:674789 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.1680G>C (p.Met560Ile) single nucleotide variant not provided [RCV000877978]|not specified [RCV001817046] Chr11:644568 [GRCh38]
Chr11:644568 [GRCh37]
Chr11:11p15.5		 benign
NM_021008.4(DEAF1):c.1114G>A (p.Ala372Thr) single nucleotide variant DEAF1-related condition [RCV003943200]|not provided [RCV000970410] Chr11:679700 [GRCh38]
Chr11:679700 [GRCh37]
Chr11:11p15.5		 benign|likely benign
NM_021008.4(DEAF1):c.757A>G (p.Lys253Glu) single nucleotide variant not provided [RCV000994531] Chr11:686905 [GRCh38]
Chr11:686905 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.880G>C (p.Val294Leu) single nucleotide variant Intellectual disability, autosomal dominant 24 [RCV000988466] Chr11:681080 [GRCh38]
Chr11:681080 [GRCh37]
Chr11:11p15.5		 likely pathogenic
NM_021008.4(DEAF1):c.641T>C (p.Leu214Pro) single nucleotide variant not provided [RCV000994534] Chr11:687934 [GRCh38]
Chr11:687934 [GRCh37]
Chr11:11p15.5		 conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 11p15.5-13(chr11:235934-33826995)x3 copy number gain not provided [RCV001006372] Chr11:235934..33826995 [GRCh37]
Chr11:11p15.5-13		 pathogenic
NC_000011.10:g.(?_532616)_(795026_?)dup duplication Early infantile epileptic encephalopathy with suppression bursts [RCV001031133] Chr11:532616..795026 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.646A>G (p.Lys216Glu) single nucleotide variant Developmental disorder [RCV003127573]|Intellectual disability-epilepsy-extrapyramidal syndrome [RCV003148908]|not provided [RCV000994533] Chr11:687929 [GRCh38]
Chr11:687929 [GRCh37]
Chr11:11p15.5		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_021008.4(DEAF1):c.838A>G (p.Thr280Ala) single nucleotide variant Autism spectrum disorder [RCV003127437] Chr11:684930 [GRCh38]
Chr11:684930 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.720T>C (p.Phe240=) single nucleotide variant not provided [RCV002538575]|not specified [RCV001663639] Chr11:686942 [GRCh38]
Chr11:686942 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.290-38C>T single nucleotide variant Intellectual disability, autosomal dominant 24 [RCV001544326]|Intellectual disability-epilepsy-extrapyramidal syndrome [RCV001544197] Chr11:691636 [GRCh38]
Chr11:691636 [GRCh37]
Chr11:11p15.5		 benign
NM_001042463.3(TMEM80):c.158G>A (p.Arg53His) single nucleotide variant not specified [RCV004283893] Chr11:700639 [GRCh38]
Chr11:700639 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.1051C>T (p.Arg351Ter) single nucleotide variant Intellectual disability-epilepsy-extrapyramidal syndrome [RCV001591651] Chr11:679763 [GRCh38]
Chr11:679763 [GRCh37]
Chr11:11p15.5		 likely pathogenic
NM_021008.4(DEAF1):c.1503+82C>A single nucleotide variant Intellectual disability, autosomal dominant 24 [RCV001544186]|Intellectual disability-epilepsy-extrapyramidal syndrome [RCV001544185] Chr11:674454 [GRCh38]
Chr11:674454 [GRCh37]
Chr11:11p15.5		 benign
NM_021008.4(DEAF1):c.998-99C>T single nucleotide variant Intellectual disability, autosomal dominant 24 [RCV001544192]|Intellectual disability-epilepsy-extrapyramidal syndrome [RCV001544191] Chr11:679915 [GRCh38]
Chr11:679915 [GRCh37]
Chr11:11p15.5		 benign
NM_021008.4(DEAF1):c.1573T>A (p.Ser525Thr) single nucleotide variant not provided [RCV001532621] Chr11:653982 [GRCh38]
Chr11:653982 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_001042463.3(TMEM80):c.172G>C (p.Asp58His) single nucleotide variant not specified [RCV004305181] Chr11:700653 [GRCh38]
Chr11:700653 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.1548C>T (p.Thr516=) single nucleotide variant not provided [RCV000951529] Chr11:654007 [GRCh38]
Chr11:654007 [GRCh37]
Chr11:11p15.5		 benign
NM_021008.4(DEAF1):c.1504-4G>A single nucleotide variant not provided [RCV000951577] Chr11:654055 [GRCh38]
Chr11:654055 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.483C>T (p.Thr161=) single nucleotide variant not provided [RCV000951791] Chr11:688365 [GRCh38]
Chr11:688365 [GRCh37]
Chr11:11p15.5		 benign
NM_021008.4(DEAF1):c.1416G>A (p.Thr472=) single nucleotide variant not provided [RCV000937177] Chr11:674623 [GRCh38]
Chr11:674623 [GRCh37]
Chr11:11p15.5		 benign
NM_021008.4(DEAF1):c.553C>T (p.Gln185Ter) single nucleotide variant not provided [RCV001780924] Chr11:688022 [GRCh38]
Chr11:688022 [GRCh37]
Chr11:11p15.5		 pathogenic|likely pathogenic
NM_021008.4(DEAF1):c.162G>C (p.Ser54=) single nucleotide variant not provided [RCV000952673] Chr11:694886 [GRCh38]
Chr11:694886 [GRCh37]
Chr11:11p15.5		 benign|likely benign
NC_000011.9:g.(?_612625)_(2193840_?)dup duplication Immunodeficiency 39 [RCV001033372] Chr11:612625..2193840 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.1187del (p.Gly396fs) deletion Intellectual disability-epilepsy-extrapyramidal syndrome [RCV001171480] Chr11:678762 [GRCh38]
Chr11:678762 [GRCh37]
Chr11:11p15.5		 pathogenic
NM_021008.4(DEAF1):c.1617dup (p.Cys540fs) duplication Intellectual disability-epilepsy-extrapyramidal syndrome [RCV001171486] Chr11:644630..644631 [GRCh38]
Chr11:644630..644631 [GRCh37]
Chr11:11p15.5		 pathogenic
NM_021008.4(DEAF1):c.34_35dup (p.Leu13fs) duplication Intellectual disability, autosomal dominant 24 [RCV000988469]|not provided [RCV001858693] Chr11:695012..695013 [GRCh38]
Chr11:695012..695013 [GRCh37]
Chr11:11p15.5		 pathogenic|likely pathogenic
NM_021008.4(DEAF1):c.674G>A (p.Gly225Glu) single nucleotide variant Intellectual disability, autosomal dominant 24 [RCV002250916] Chr11:686988 [GRCh38]
Chr11:686988 [GRCh37]
Chr11:11p15.5		 pathogenic
NM_021008.4(DEAF1):c.997+97T>C single nucleotide variant Intellectual disability, autosomal dominant 24 [RCV001544194]|Intellectual disability-epilepsy-extrapyramidal syndrome [RCV001544193] Chr11:680866 [GRCh38]
Chr11:680866 [GRCh37]
Chr11:11p15.5		 benign
NM_021008.4(DEAF1):c.620G>A (p.Cys207Tyr) single nucleotide variant Intellectual disability, autosomal dominant 24 [RCV002465392]|not provided [RCV003235728] Chr11:687955 [GRCh38]
Chr11:687955 [GRCh37]
Chr11:11p15.5		 likely pathogenic|uncertain significance
GRCh37/hg19 11p15.5-15.4(chr11:210300-8664358)x3 copy number gain Silver-Russell syndrome 1 [RCV001263222] Chr11:210300..8664358 [GRCh37]
Chr11:11p15.5-15.4		 pathogenic
NM_021008.4(DEAF1):c.1204C>T (p.Gln402Ter) single nucleotide variant not provided [RCV001592182] Chr11:678745 [GRCh38]
Chr11:678745 [GRCh37]
Chr11:11p15.5		 likely pathogenic
NM_021008.4(DEAF1):c.997+2_997+3del microsatellite Intellectual disability-epilepsy-extrapyramidal syndrome [RCV001251119] Chr11:680960..680961 [GRCh38]
Chr11:680960..680961 [GRCh37]
Chr11:11p15.5		 likely pathogenic
NM_021008.4(DEAF1):c.1294A>C (p.Thr432Pro) single nucleotide variant not provided [RCV001876258]|not specified [RCV001194083] Chr11:674745 [GRCh38]
Chr11:674745 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.825C>G (p.His275Gln) single nucleotide variant not provided [RCV001091424] Chr11:684943 [GRCh38]
Chr11:684943 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.571A>T (p.Lys191Ter) single nucleotide variant Intellectual disability-epilepsy-extrapyramidal syndrome [RCV001171479] Chr11:688004 [GRCh38]
Chr11:688004 [GRCh37]
Chr11:11p15.5		 pathogenic
NM_021008.4(DEAF1):c.640C>G (p.Leu214Val) single nucleotide variant Intellectual disability, autosomal dominant 24 [RCV001171481] Chr11:687935 [GRCh38]
Chr11:687935 [GRCh37]
Chr11:11p15.5		 pathogenic
NM_021008.4(DEAF1):c.826G>C (p.Ala276Pro) single nucleotide variant Intellectual disability, autosomal dominant 24 [RCV001171482]|not provided [RCV001873584] Chr11:684942 [GRCh38]
Chr11:684942 [GRCh37]
Chr11:11p15.5		 pathogenic|not provided
NM_021008.4(DEAF1):c.671G>A (p.Arg224Gln) single nucleotide variant Autism spectrum disorder [RCV003127670]|DEAF1-related condition [RCV003396784]|Intellectual disability-epilepsy-extrapyramidal syndrome [RCV001171489]|not provided [RCV003718379] Chr11:686991 [GRCh38]
Chr11:686991 [GRCh37]
Chr11:11p15.5		 pathogenic|likely pathogenic|uncertain significance
NM_021008.4(DEAF1):c.578_579insAAAA (p.Asn193fs) insertion not provided [RCV001543572] Chr11:687996..687997 [GRCh38]
Chr11:687996..687997 [GRCh37]
Chr11:11p15.5		 pathogenic
NM_021008.4(DEAF1):c.54_92del (p.Val19_Ala31del) deletion not provided [RCV001546283] Chr11:694956..694994 [GRCh38]
Chr11:694956..694994 [GRCh37]
Chr11:11p15.5		 uncertain significance
NC_000011.9:g.(?_532616)_(2906985_?)dup duplication Neuronal ceroid lipofuscinosis [RCV001032557] Chr11:532616..2906985 [GRCh37]
Chr11:11p15.5-15.4		 uncertain significance
NM_021008.4(DEAF1):c.661T>C (p.Ser221Pro) single nucleotide variant not provided [RCV001171604] Chr11:687914 [GRCh38]
Chr11:687914 [GRCh37]
Chr11:11p15.5		 likely pathogenic|conflicting interpretations of pathogenicity
NM_021008.4(DEAF1):c.979G>A (p.Ala327Thr) single nucleotide variant Inborn genetic diseases [RCV004035332]|Intellectual disability, autosomal dominant 24 [RCV001253434]|not provided [RCV001879869] Chr11:680981 [GRCh38]
Chr11:680981 [GRCh37]
Chr11:11p15.5		 likely benign|uncertain significance
NM_021008.4(DEAF1):c.821C>T (p.Pro274Leu) single nucleotide variant Intellectual disability, autosomal dominant 24 [RCV001252963] Chr11:684947 [GRCh38]
Chr11:684947 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.842G>C (p.Cys281Ser) single nucleotide variant Intellectual disability, autosomal dominant 24 [RCV001253608] Chr11:684926 [GRCh38]
Chr11:684926 [GRCh37]
Chr11:11p15.5		 likely pathogenic
NM_021008.4(DEAF1):c.86C>T (p.Ala29Val) single nucleotide variant Intellectual disability [RCV001252464] Chr11:694962 [GRCh38]
Chr11:694962 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.1292dup (p.Thr432fs) duplication Intellectual disability [RCV001252465] Chr11:674746..674747 [GRCh38]
Chr11:674746..674747 [GRCh37]
Chr11:11p15.5		 likely benign
GRCh37/hg19 11p15.5(chr11:230615-1150353)x3 copy number gain not provided [RCV001259592] Chr11:230615..1150353 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.1173del (p.Glu391fs) deletion Intellectual disability, autosomal dominant 24 [RCV001262925] Chr11:678776 [GRCh38]
Chr11:678776 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.806A>G (p.Asp269Gly) single nucleotide variant Intellectual disability [RCV001260878] Chr11:684962 [GRCh38]
Chr11:684962 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.92C>T (p.Ala31Val) single nucleotide variant not provided [RCV002284676] Chr11:694956 [GRCh38]
Chr11:694956 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.1503+3A>G single nucleotide variant Inborn genetic diseases [RCV001266040] Chr11:674533 [GRCh38]
Chr11:674533 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.688C>G (p.Gln230Glu) single nucleotide variant Inborn genetic diseases [RCV001266543] Chr11:686974 [GRCh38]
Chr11:686974 [GRCh37]
Chr11:11p15.5		 uncertain significance
GRCh37/hg19 11p15.5-15.4(chr11:230615-4851537)x3 copy number gain See cases [RCV001263059] Chr11:230615..4851537 [GRCh37]
Chr11:11p15.5-15.4		 pathogenic
NC_000011.9:g.(?_298501)_(4113028_?)dup duplication Early infantile epileptic encephalopathy with suppression bursts [RCV001316682] Chr11:298501..4113028 [GRCh37]
Chr11:11p15.5-15.4		 uncertain significance
NC_000011.9:g.(?_612625)_(2193840_?)dup duplication Autosomal recessive DOPA responsive dystonia [RCV001301561]|Immunodeficiency 39 [RCV001033372] Chr11:612625..2193840 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.1328A>G (p.Asn443Ser) single nucleotide variant not provided [RCV001296482] Chr11:674711 [GRCh38]
Chr11:674711 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.151G>A (p.Asp51Asn) single nucleotide variant Intellectual disability, autosomal dominant 24 [RCV001329204] Chr11:694897 [GRCh38]
Chr11:694897 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.332A>C (p.Asp111Ala) single nucleotide variant Intellectual disability, autosomal dominant 24 [RCV001729833] Chr11:691556 [GRCh38]
Chr11:691556 [GRCh37]
Chr11:11p15.5		 likely pathogenic|uncertain significance
NM_021008.4(DEAF1):c.721G>A (p.Glu241Lys) single nucleotide variant not provided [RCV001269776] Chr11:686941 [GRCh38]
Chr11:686941 [GRCh37]
Chr11:11p15.5		 likely pathogenic
NM_021008.4(DEAF1):c.634G>T (p.Gly212Cys) single nucleotide variant See cases [RCV001420245] Chr11:687941 [GRCh38]
Chr11:687941 [GRCh37]
Chr11:11p15.5		 pathogenic
GRCh37/hg19 11p15.5-15.4(chr11:10701-5080415)x2 copy number gain See cases [RCV001310286] Chr11:10701..5080415 [GRCh37]
Chr11:11p15.5-15.4		 pathogenic
NM_021008.4(DEAF1):c.517+8G>A single nucleotide variant not provided [RCV001523582] Chr11:688323 [GRCh38]
Chr11:688323 [GRCh37]
Chr11:11p15.5		 benign|likely benign
NM_021008.4(DEAF1):c.1151C>T (p.Pro384Leu) single nucleotide variant Inborn genetic diseases [RCV003298719]|not provided [RCV001424698] Chr11:678798 [GRCh38]
Chr11:678798 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.1640C>G (p.Thr547Ser) single nucleotide variant not provided [RCV001408645] Chr11:644608 [GRCh38]
Chr11:644608 [GRCh37]
Chr11:11p15.5		 likely benign|conflicting interpretations of pathogenicity
NM_021008.4(DEAF1):c.51_92del (p.Val19_Ala32del) deletion not provided [RCV001536332] Chr11:694956..694997 [GRCh38]
Chr11:694956..694997 [GRCh37]
Chr11:11p15.5		 likely benign|conflicting interpretations of pathogenicity
NM_021008.3:c.(1503+1_1504-1)_(1593+1_1594-1)del deletion Intellectual disability-epilepsy-extrapyramidal syndrome [RCV001706945]   uncertain significance
NM_021008.4(DEAF1):c.855C>T (p.Cys285=) single nucleotide variant not provided [RCV001523410]|not specified [RCV001821845] Chr11:684913 [GRCh38]
Chr11:684913 [GRCh37]
Chr11:11p15.5		 benign|likely benign
NM_021008.4(DEAF1):c.804+19C>T single nucleotide variant not provided [RCV001518172] Chr11:686839 [GRCh38]
Chr11:686839 [GRCh37]
Chr11:11p15.5		 benign
NM_021008.4(DEAF1):c.517+19C>T single nucleotide variant not provided [RCV001518173] Chr11:688312 [GRCh38]
Chr11:688312 [GRCh37]
Chr11:11p15.5		 benign
NM_021008.4(DEAF1):c.1306G>A (p.Ala436Thr) single nucleotide variant not provided [RCV001520078] Chr11:674733 [GRCh38]
Chr11:674733 [GRCh37]
Chr11:11p15.5		 benign
NM_021008.4(DEAF1):c.682A>T (p.Ile228Phe) single nucleotide variant Intellectual disability, autosomal dominant 24 [RCV002249022] Chr11:686980 [GRCh38]
Chr11:686980 [GRCh37]
Chr11:11p15.5		 likely pathogenic
NM_021008.4(DEAF1):c.1318G>C (p.Ala440Pro) single nucleotide variant not provided [RCV003108854] Chr11:674721 [GRCh38]
Chr11:674721 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.939C>T (p.Pro313=) single nucleotide variant not provided [RCV001726832] Chr11:681021 [GRCh38]
Chr11:681021 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.790C>G (p.Gln264Glu) single nucleotide variant not provided [RCV001754817] Chr11:686872 [GRCh38]
Chr11:686872 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.289+3A>C single nucleotide variant not provided [RCV001761183] Chr11:694756 [GRCh38]
Chr11:694756 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.718T>A (p.Phe240Ile) single nucleotide variant not provided [RCV003237660] Chr11:686944 [GRCh38]
Chr11:686944 [GRCh37]
Chr11:11p15.5		 likely pathogenic
NM_021008.4(DEAF1):c.1256-17C>T single nucleotide variant not provided [RCV001786125] Chr11:674800 [GRCh38]
Chr11:674800 [GRCh37]
Chr11:11p15.5		 benign
NM_021008.4(DEAF1):c.1013C>T (p.Ser338Leu) single nucleotide variant not provided [RCV001773098] Chr11:679801 [GRCh38]
Chr11:679801 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.1523G>T (p.Gly508Val) single nucleotide variant not provided [RCV001773139] Chr11:654032 [GRCh38]
Chr11:654032 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.1344_1345insAA (p.Glu449fs) insertion not provided [RCV001754703] Chr11:674694..674695 [GRCh38]
Chr11:674694..674695 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.51_62del (p.Val19_Ala22del) deletion not provided [RCV001772596] Chr11:694986..694997 [GRCh38]
Chr11:694986..694997 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.1530G>C (p.Glu510Asp) single nucleotide variant not provided [RCV001774365] Chr11:654025 [GRCh38]
Chr11:654025 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.802C>T (p.Gln268Ter) single nucleotide variant not provided [RCV001751859] Chr11:686860 [GRCh38]
Chr11:686860 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.805-1G>C single nucleotide variant Intellectual disability-epilepsy-extrapyramidal syndrome [RCV001775475] Chr11:684964 [GRCh38]
Chr11:684964 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.1363T>C (p.Tyr455His) single nucleotide variant not provided [RCV001769237] Chr11:674676 [GRCh38]
Chr11:674676 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.1090_1091del (p.Pro365fs) microsatellite not provided [RCV001768944] Chr11:679723..679724 [GRCh38]
Chr11:679723..679724 [GRCh37]
Chr11:11p15.5		 conflicting interpretations of pathogenicity|uncertain significance
NM_021008.4(DEAF1):c.908G>T (p.Arg303Leu) single nucleotide variant not provided [RCV001771117] Chr11:681052 [GRCh38]
Chr11:681052 [GRCh37]
Chr11:11p15.5		 uncertain significance
NC_000011.9:g.(?_678674)_(838192_?)dup duplication not provided [RCV001982636] Chr11:678674..838192 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.463G>A (p.Gly155Arg) single nucleotide variant not provided [RCV001806586] Chr11:688385 [GRCh38]
Chr11:688385 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.380A>G (p.His127Arg) single nucleotide variant not provided [RCV001815714] Chr11:691508 [GRCh38]
Chr11:691508 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.600C>T (p.Asp200=) single nucleotide variant not specified [RCV001820263] Chr11:687975 [GRCh38]
Chr11:687975 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.1182C>T (p.Tyr394=) single nucleotide variant not provided [RCV002074265]|not specified [RCV001822296] Chr11:678767 [GRCh38]
Chr11:678767 [GRCh37]
Chr11:11p15.5		 benign|likely benign
NM_021008.4(DEAF1):c.1010C>G (p.Pro337Arg) single nucleotide variant not provided [RCV002074292]|not specified [RCV001817557] Chr11:679804 [GRCh38]
Chr11:679804 [GRCh37]
Chr11:11p15.5		 likely benign|uncertain significance
NM_021008.4(DEAF1):c.56_85del (p.Val19_Ala28del) deletion Intellectual disability, autosomal dominant 24 [RCV002503327]|not provided [RCV002545182]|not specified [RCV001817792] Chr11:694963..694992 [GRCh38]
Chr11:694963..694992 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.83C>G (p.Ala28Gly) single nucleotide variant not provided [RCV001944978] Chr11:694965 [GRCh38]
Chr11:694965 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.461A>G (p.Asp154Gly) single nucleotide variant Intellectual disability, autosomal dominant 24 [RCV001809236] Chr11:688387 [GRCh38]
Chr11:688387 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.71_100del (p.Ala24_Ala33del) deletion Inborn genetic diseases [RCV002545793]|not provided [RCV001874064] Chr11:694948..694977 [GRCh38]
Chr11:694948..694977 [GRCh37]
Chr11:11p15.5		 likely benign|uncertain significance
NM_021008.4(DEAF1):c.1643T>A (p.Val548Asp) single nucleotide variant not provided [RCV001864411] Chr11:644605 [GRCh38]
Chr11:644605 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.89C>T (p.Ala30Val) single nucleotide variant not provided [RCV001930024] Chr11:694959 [GRCh38]
Chr11:694959 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.1539C>T (p.Ser513=) single nucleotide variant not provided [RCV001895814] Chr11:654016 [GRCh38]
Chr11:654016 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.322G>A (p.Ala108Thr) single nucleotide variant not provided [RCV001946434] Chr11:691566 [GRCh38]
Chr11:691566 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.314A>G (p.Asn105Ser) single nucleotide variant not provided [RCV001874591] Chr11:691574 [GRCh38]
Chr11:691574 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.986C>T (p.Ala329Val) single nucleotide variant not provided [RCV002041613] Chr11:680974 [GRCh38]
Chr11:680974 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.72_95dup (p.Val25_Ala32dup) duplication not provided [RCV001988208] Chr11:694952..694953 [GRCh38]
Chr11:694952..694953 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.1141G>C (p.Val381Leu) single nucleotide variant not provided [RCV001949906] Chr11:678808 [GRCh38]
Chr11:678808 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.48_92del (p.Val19_Ala33del) deletion Intellectual disability-epilepsy-extrapyramidal syndrome [RCV003989730]|not provided [RCV001913127] Chr11:694956..695000 [GRCh38]
Chr11:694956..695000 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.253G>C (p.Gly85Arg) single nucleotide variant not provided [RCV002009149] Chr11:694795 [GRCh38]
Chr11:694795 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.804+5C>T single nucleotide variant not provided [RCV002021204] Chr11:686853 [GRCh38]
Chr11:686853 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.753C>A (p.Asp251Glu) single nucleotide variant not provided [RCV002043593] Chr11:686909 [GRCh38]
Chr11:686909 [GRCh37]
Chr11:11p15.5		 likely pathogenic|uncertain significance
GRCh37/hg19 11p15.5(chr11:648556-1021236)x3 copy number gain not provided [RCV001834449] Chr11:648556..1021236 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.1312C>A (p.Pro438Thr) single nucleotide variant Inborn genetic diseases [RCV003170290]|not provided [RCV002005366] Chr11:674727 [GRCh38]
Chr11:674727 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.1237A>G (p.Thr413Ala) single nucleotide variant not provided [RCV001912471] Chr11:678712 [GRCh38]
Chr11:678712 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.1660C>T (p.His554Tyr) single nucleotide variant Inborn genetic diseases [RCV004042257]|not provided [RCV002005504] Chr11:644588 [GRCh38]
Chr11:644588 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.516A>C (p.Pro172=) single nucleotide variant Intellectual disability, autosomal dominant 24 [RCV001837233] Chr11:688332 [GRCh38]
Chr11:688332 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.1470G>T (p.Gln490His) single nucleotide variant not provided [RCV001870908] Chr11:674569 [GRCh38]
Chr11:674569 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.1474A>G (p.Lys492Glu) single nucleotide variant not provided [RCV002052331] Chr11:674565 [GRCh38]
Chr11:674565 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.903A>G (p.Lys301=) single nucleotide variant not provided [RCV001949178] Chr11:681057 [GRCh38]
Chr11:681057 [GRCh37]
Chr11:11p15.5		 likely benign|uncertain significance
NM_021008.4(DEAF1):c.211G>C (p.Ala71Pro) single nucleotide variant not provided [RCV002004068] Chr11:694837 [GRCh38]
Chr11:694837 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.484_496del (p.Gly162fs) deletion not provided [RCV001895047] Chr11:688352..688364 [GRCh38]
Chr11:688352..688364 [GRCh37]
Chr11:11p15.5		 pathogenic
NM_021008.4(DEAF1):c.586C>T (p.Pro196Ser) single nucleotide variant Inborn genetic diseases [RCV003264319]|not provided [RCV001969943] Chr11:687989 [GRCh38]
Chr11:687989 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.594G>A (p.Val198=) single nucleotide variant not provided [RCV001913388] Chr11:687981 [GRCh38]
Chr11:687981 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.1641del (p.Val548fs) deletion not provided [RCV001928589] Chr11:644607 [GRCh38]
Chr11:644607 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.63_89del (p.Val25_Ala33del) deletion not provided [RCV002043753] Chr11:694959..694985 [GRCh38]
Chr11:694959..694985 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.991A>G (p.Thr331Ala) single nucleotide variant not provided [RCV002041098] Chr11:680969 [GRCh38]
Chr11:680969 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.1190A>G (p.Tyr397Cys) single nucleotide variant not provided [RCV001893713] Chr11:678759 [GRCh38]
Chr11:678759 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.1594-20G>A single nucleotide variant not provided [RCV001911821] Chr11:644674 [GRCh38]
Chr11:644674 [GRCh37]
Chr11:11p15.5		 likely benign|uncertain significance
NM_021008.4(DEAF1):c.1523G>A (p.Gly508Asp) single nucleotide variant not provided [RCV001946283] Chr11:654032 [GRCh38]
Chr11:654032 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.1153T>A (p.Cys385Ser) single nucleotide variant not provided [RCV001872503] Chr11:678796 [GRCh38]
Chr11:678796 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.719T>C (p.Phe240Ser) single nucleotide variant Intellectual disability, autosomal dominant 24 [RCV001839475] Chr11:686943 [GRCh38]
Chr11:686943 [GRCh37]
Chr11:11p15.5		 pathogenic
NM_021008.4(DEAF1):c.613G>A (p.Val205Ile) single nucleotide variant not provided [RCV001912977] Chr11:687962 [GRCh38]
Chr11:687962 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.72_89del (p.19VAAAAA[1]) deletion Intellectual disability-epilepsy-extrapyramidal syndrome [RCV001837399]|not provided [RCV002542807] Chr11:694959..694976 [GRCh38]
Chr11:694959..694976 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.104G>A (p.Gly35Asp) single nucleotide variant Intellectual disability, autosomal dominant 24 [RCV001839228] Chr11:694944 [GRCh38]
Chr11:694944 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.74T>G (p.Val25Gly) single nucleotide variant Inborn genetic diseases [RCV002543253]|Intellectual disability, autosomal dominant 24 [RCV001839309]|not provided [RCV002543252] Chr11:694974 [GRCh38]
Chr11:694974 [GRCh37]
Chr11:11p15.5		 uncertain significance
GRCh37/hg19 11p15.5-15.4(chr11:230615-5525355)x3 copy number gain not provided [RCV001825269] Chr11:230615..5525355 [GRCh37]
Chr11:11p15.5-15.4		 not provided
NM_021008.4(DEAF1):c.232A>G (p.Met78Val) single nucleotide variant not provided [RCV001943926] Chr11:694816 [GRCh38]
Chr11:694816 [GRCh37]
Chr11:11p15.5		 likely benign|uncertain significance
NM_021008.4(DEAF1):c.74T>C (p.Val25Ala) single nucleotide variant not provided [RCV002035886] Chr11:694974 [GRCh38]
Chr11:694974 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.1525C>T (p.Arg509Trp) single nucleotide variant Inborn genetic diseases [RCV002554220]|not provided [RCV001887197] Chr11:654030 [GRCh38]
Chr11:654030 [GRCh37]
Chr11:11p15.5		 uncertain significance
NC_000011.9:g.(?_691481)_(691618_?)del deletion not provided [RCV001905124] Chr11:691481..691618 [GRCh37]
Chr11:11p15.5		 pathogenic
NM_021008.4(DEAF1):c.794dup (p.Cys265fs) duplication not provided [RCV001963315] Chr11:686867..686868 [GRCh38]
Chr11:686867..686868 [GRCh37]
Chr11:11p15.5		 pathogenic
NM_021008.4(DEAF1):c.105C>T (p.Gly35=) single nucleotide variant not provided [RCV001982477] Chr11:694943 [GRCh38]
Chr11:694943 [GRCh37]
Chr11:11p15.5		 likely benign|uncertain significance
NM_021008.4(DEAF1):c.1648G>A (p.Ala550Thr) single nucleotide variant not provided [RCV002017745] Chr11:644600 [GRCh38]
Chr11:644600 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.754T>C (p.Trp252Arg) single nucleotide variant not provided [RCV001885738] Chr11:686908 [GRCh38]
Chr11:686908 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.1675G>A (p.Val559Met) single nucleotide variant DEAF1-related condition [RCV003416639]|not provided [RCV001962498] Chr11:644573 [GRCh38]
Chr11:644573 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.336T>A (p.Asn112Lys) single nucleotide variant not provided [RCV001922660] Chr11:691552 [GRCh38]
Chr11:691552 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.1244A>G (p.His415Arg) single nucleotide variant Inborn genetic diseases [RCV003355668]|not provided [RCV001939058] Chr11:678705 [GRCh38]
Chr11:678705 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.1470G>C (p.Gln490His) single nucleotide variant not provided [RCV002000551] Chr11:674569 [GRCh38]
Chr11:674569 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.1349C>T (p.Pro450Leu) single nucleotide variant Inborn genetic diseases [RCV003382742]|not provided [RCV001941297] Chr11:674690 [GRCh38]
Chr11:674690 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.47C>T (p.Ala16Val) single nucleotide variant not provided [RCV001930321] Chr11:695001 [GRCh38]
Chr11:695001 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.338T>A (p.Val113Asp) single nucleotide variant Intellectual disability, autosomal dominant 24 [RCV003388622]|not provided [RCV002036765] Chr11:691550 [GRCh38]
Chr11:691550 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.1255+3A>G single nucleotide variant not provided [RCV001923586] Chr11:678691 [GRCh38]
Chr11:678691 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.29_30delinsCC (p.Gln10Pro) indel not provided [RCV002020117] Chr11:695018..695019 [GRCh38]
Chr11:695018..695019 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.53C>T (p.Ala18Val) single nucleotide variant Inborn genetic diseases [RCV004043815]|not provided [RCV001996780] Chr11:694995 [GRCh38]
Chr11:694995 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.935C>G (p.Thr312Ser) single nucleotide variant Inborn genetic diseases [RCV003164003]|not provided [RCV002037320] Chr11:681025 [GRCh38]
Chr11:681025 [GRCh37]
Chr11:11p15.5		 likely benign|uncertain significance
NM_021008.4(DEAF1):c.1292C>T (p.Pro431Leu) single nucleotide variant Inborn genetic diseases [RCV004045242]|not provided [RCV002033651] Chr11:674747 [GRCh38]
Chr11:674747 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.361G>A (p.Ala121Thr) single nucleotide variant not provided [RCV001888829] Chr11:691527 [GRCh38]
Chr11:691527 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.472G>A (p.Val158Met) single nucleotide variant Inborn genetic diseases [RCV002579658]|not provided [RCV002030445] Chr11:688376 [GRCh38]
Chr11:688376 [GRCh37]
Chr11:11p15.5		 likely benign|uncertain significance
NM_021008.4(DEAF1):c.1415C>T (p.Thr472Met) single nucleotide variant not provided [RCV001925847] Chr11:674624 [GRCh38]
Chr11:674624 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.1024A>G (p.Thr342Ala) single nucleotide variant not provided [RCV001992143] Chr11:679790 [GRCh38]
Chr11:679790 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.804+20C>G single nucleotide variant not provided [RCV002018988] Chr11:686838 [GRCh38]
Chr11:686838 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.1165C>T (p.His389Tyr) single nucleotide variant not provided [RCV002012805] Chr11:678784 [GRCh38]
Chr11:678784 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.1081A>G (p.Ile361Val) single nucleotide variant not provided [RCV001878616] Chr11:679733 [GRCh38]
Chr11:679733 [GRCh37]
Chr11:11p15.5		 uncertain significance
NC_000011.9:g.(?_532636)_(695047_?)dup duplication not provided [RCV001955722] Chr11:532636..695047 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.244G>A (p.Ala82Thr) single nucleotide variant Inborn genetic diseases [RCV002545333]|not provided [RCV002050699] Chr11:694804 [GRCh38]
Chr11:694804 [GRCh37]
Chr11:11p15.5		 likely benign|uncertain significance
NM_021008.4(DEAF1):c.1003G>A (p.Val335Met) single nucleotide variant not provided [RCV001903164] Chr11:679811 [GRCh38]
Chr11:679811 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.75G>A (p.Val25=) single nucleotide variant not provided [RCV001878814] Chr11:694973 [GRCh38]
Chr11:694973 [GRCh37]
Chr11:11p15.5		 likely benign|uncertain significance
NM_021008.4(DEAF1):c.548C>T (p.Pro183Leu) single nucleotide variant not provided [RCV001952114] Chr11:688027 [GRCh38]
Chr11:688027 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.484G>A (p.Gly162Arg) single nucleotide variant not provided [RCV001957128] Chr11:688364 [GRCh38]
Chr11:688364 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.815T>C (p.Leu272Ser) single nucleotide variant not provided [RCV001950989] Chr11:684953 [GRCh38]
Chr11:684953 [GRCh37]
Chr11:11p15.5		 pathogenic
NM_021008.4(DEAF1):c.1382A>G (p.Asn461Ser) single nucleotide variant Inborn genetic diseases [RCV004038955]|not provided [RCV001869951] Chr11:674657 [GRCh38]
Chr11:674657 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.1072A>G (p.Thr358Ala) single nucleotide variant not provided [RCV001866519] Chr11:679742 [GRCh38]
Chr11:679742 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.1572C>G (p.Cys524Trp) single nucleotide variant not provided [RCV001934289] Chr11:653983 [GRCh38]
Chr11:653983 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.1281G>A (p.Ala427=) single nucleotide variant DEAF1-related condition [RCV003892943]|not provided [RCV001918512] Chr11:674758 [GRCh38]
Chr11:674758 [GRCh37]
Chr11:11p15.5		 likely benign|uncertain significance
NM_021008.4(DEAF1):c.870+13C>T single nucleotide variant not provided [RCV002031264] Chr11:684885 [GRCh38]
Chr11:684885 [GRCh37]
Chr11:11p15.5		 likely benign|uncertain significance
NM_021008.4(DEAF1):c.121G>T (p.Val41Leu) single nucleotide variant Inborn genetic diseases [RCV002549024]|not provided [RCV002048726] Chr11:694927 [GRCh38]
Chr11:694927 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.290-20del deletion not provided [RCV002030351] Chr11:691618 [GRCh38]
Chr11:691618 [GRCh37]
Chr11:11p15.5		 likely benign|uncertain significance
NC_000011.9:g.(?_612645)_(644674_?)del deletion not provided [RCV001952780] Chr11:612645..644674 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.130A>G (p.Arg44Gly) single nucleotide variant Inborn genetic diseases [RCV002550489]|not provided [RCV002031671] Chr11:694918 [GRCh38]
Chr11:694918 [GRCh37]
Chr11:11p15.5		 likely benign|uncertain significance
NM_021008.4(DEAF1):c.247_267dup (p.Leu83_Ala89dup) duplication not provided [RCV001998163] Chr11:694780..694781 [GRCh38]
Chr11:694780..694781 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.32T>A (p.Leu11Gln) single nucleotide variant Inborn genetic diseases [RCV003382754]|not provided [RCV001960842] Chr11:695016 [GRCh38]
Chr11:695016 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.23C>T (p.Ala8Val) single nucleotide variant not provided [RCV001877521] Chr11:695025 [GRCh38]
Chr11:695025 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.512C>T (p.Thr171Ile) single nucleotide variant not provided [RCV002049489] Chr11:688336 [GRCh38]
Chr11:688336 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.1412del (p.Lys471fs) deletion not provided [RCV001990013] Chr11:674627 [GRCh38]
Chr11:674627 [GRCh37]
Chr11:11p15.5		 pathogenic
NM_021008.4(DEAF1):c.1274C>T (p.Ala425Val) single nucleotide variant not provided [RCV001978775] Chr11:674765 [GRCh38]
Chr11:674765 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.44_73del (p.Glu15_Ala24del) deletion not provided [RCV001924614] Chr11:694975..695004 [GRCh38]
Chr11:694975..695004 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.106G>T (p.Glu36Ter) single nucleotide variant not provided [RCV001990062] Chr11:694942 [GRCh38]
Chr11:694942 [GRCh37]
Chr11:11p15.5		 pathogenic
NM_021008.4(DEAF1):c.83C>T (p.Ala28Val) single nucleotide variant not provided [RCV001933989] Chr11:694965 [GRCh38]
Chr11:694965 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.73G>C (p.Val25Leu) single nucleotide variant not provided [RCV001880765] Chr11:694975 [GRCh38]
Chr11:694975 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.514C>T (p.Pro172Ser) single nucleotide variant not provided [RCV001867796] Chr11:688334 [GRCh38]
Chr11:688334 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.115_123dup (p.Glu39_Val41dup) duplication not provided [RCV001940562] Chr11:694924..694925 [GRCh38]
Chr11:694924..694925 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.550G>A (p.Gly184Ser) single nucleotide variant not provided [RCV002036422] Chr11:688025 [GRCh38]
Chr11:688025 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.110C>T (p.Ala37Val) single nucleotide variant not provided [RCV001905542] Chr11:694938 [GRCh38]
Chr11:694938 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.101G>C (p.Gly34Ala) single nucleotide variant not provided [RCV001959479] Chr11:694947 [GRCh38]
Chr11:694947 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.1540G>A (p.Glu514Lys) single nucleotide variant not provided [RCV001875500] Chr11:654015 [GRCh38]
Chr11:654015 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.1112T>A (p.Phe371Tyr) single nucleotide variant not provided [RCV001918902] Chr11:679702 [GRCh38]
Chr11:679702 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.80C>T (p.Ala27Val) single nucleotide variant Intellectual disability, autosomal dominant 24 [RCV002497907]|not provided [RCV001993416] Chr11:694968 [GRCh38]
Chr11:694968 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.765C>G (p.Ser255Arg) single nucleotide variant not provided [RCV001902622] Chr11:686897 [GRCh38]
Chr11:686897 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.823C>T (p.His275Tyr) single nucleotide variant not provided [RCV001993368] Chr11:684945 [GRCh38]
Chr11:684945 [GRCh37]
Chr11:11p15.5		 pathogenic
NM_021008.4(DEAF1):c.1241C>T (p.Ser414Leu) single nucleotide variant not provided [RCV002012086] Chr11:678708 [GRCh38]
Chr11:678708 [GRCh37]
Chr11:11p15.5		 uncertain significance
NC_000011.9:g.(?_216698)_(720766_?)dup duplication Immunodeficiency 39 [RCV001923869] Chr11:216698..720766 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.1348C>T (p.Pro450Ser) single nucleotide variant not provided [RCV001870197]|not specified [RCV003487805] Chr11:674691 [GRCh38]
Chr11:674691 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.320G>T (p.Gly107Val) single nucleotide variant not provided [RCV001923324] Chr11:691568 [GRCh38]
Chr11:691568 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.364G>A (p.Ala122Thr) single nucleotide variant not provided [RCV001959264] Chr11:691524 [GRCh38]
Chr11:691524 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.217C>T (p.Pro73Ser) single nucleotide variant not provided [RCV001980388] Chr11:694831 [GRCh38]
Chr11:694831 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.119C>G (p.Pro40Arg) single nucleotide variant not provided [RCV002035536] Chr11:694929 [GRCh38]
Chr11:694929 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.1457C>G (p.Ala486Gly) single nucleotide variant not provided [RCV001999141] Chr11:674582 [GRCh38]
Chr11:674582 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.148G>C (p.Glu50Gln) single nucleotide variant not provided [RCV001977323] Chr11:694900 [GRCh38]
Chr11:694900 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.962A>G (p.Asn321Ser) single nucleotide variant not provided [RCV001867121] Chr11:680998 [GRCh38]
Chr11:680998 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.112G>A (p.Glu38Lys) single nucleotide variant Inborn genetic diseases [RCV002543481]|not provided [RCV002032899] Chr11:694936 [GRCh38]
Chr11:694936 [GRCh37]
Chr11:11p15.5		 likely benign|uncertain significance
NM_021008.4(DEAF1):c.1587_1588inv (p.Arg530Cys) inversion not provided [RCV001875285] Chr11:653967..653968 [GRCh38]
Chr11:653967..653968 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.205_213dup (p.Met69_Ala71dup) duplication not provided [RCV001932291] Chr11:694834..694835 [GRCh38]
Chr11:694834..694835 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.316G>T (p.Val106Leu) single nucleotide variant not provided [RCV001922618] Chr11:691572 [GRCh38]
Chr11:691572 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.1489G>A (p.Ala497Thr) single nucleotide variant not provided [RCV001917017] Chr11:674550 [GRCh38]
Chr11:674550 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.469A>C (p.Ile157Leu) single nucleotide variant not provided [RCV001952276] Chr11:688379 [GRCh38]
Chr11:688379 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.832T>G (p.Ser278Ala) single nucleotide variant not provided [RCV001952220] Chr11:684936 [GRCh38]
Chr11:684936 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.1352G>A (p.Arg451Gln) single nucleotide variant not provided [RCV001919023] Chr11:674687 [GRCh38]
Chr11:674687 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.1108G>A (p.Val370Ile) single nucleotide variant Inborn genetic diseases [RCV004045965]|not provided [RCV002012921] Chr11:679706 [GRCh38]
Chr11:679706 [GRCh37]
Chr11:11p15.5		 likely benign|uncertain significance
NM_021008.4(DEAF1):c.259G>A (p.Asp87Asn) single nucleotide variant not provided [RCV001880683] Chr11:694789 [GRCh38]
Chr11:694789 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.1654G>A (p.Glu552Lys) single nucleotide variant See cases [RCV003985527]|not provided [RCV001879678] Chr11:644594 [GRCh38]
Chr11:644594 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.289+8C>T single nucleotide variant not provided [RCV002185496] Chr11:694751 [GRCh38]
Chr11:694751 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.399G>A (p.Thr133=) single nucleotide variant not provided [RCV002071457] Chr11:688449 [GRCh38]
Chr11:688449 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.801C>T (p.Ile267=) single nucleotide variant not provided [RCV002111948] Chr11:686861 [GRCh38]
Chr11:686861 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.1107C>T (p.Asp369=) single nucleotide variant not provided [RCV002192377] Chr11:679707 [GRCh38]
Chr11:679707 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.1503+10G>A single nucleotide variant not provided [RCV002108433] Chr11:674526 [GRCh38]
Chr11:674526 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.1380C>T (p.Val460=) single nucleotide variant not provided [RCV002105800] Chr11:674659 [GRCh38]
Chr11:674659 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.636C>A (p.Gly212=) single nucleotide variant not provided [RCV002186522] Chr11:687939 [GRCh38]
Chr11:687939 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.642G>A (p.Leu214=) single nucleotide variant not provided [RCV002186583] Chr11:687933 [GRCh38]
Chr11:687933 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.1308G>A (p.Ala436=) single nucleotide variant DEAF1-related condition [RCV003913737]|not provided [RCV002124876] Chr11:674731 [GRCh38]
Chr11:674731 [GRCh37]
Chr11:11p15.5		 benign
NM_021008.4(DEAF1):c.387+11C>A single nucleotide variant not provided [RCV002106254] Chr11:691490 [GRCh38]
Chr11:691490 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.1207A>G (p.Ile403Val) single nucleotide variant not provided [RCV002107733] Chr11:678742 [GRCh38]
Chr11:678742 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.60_86del (p.Val25_Ala33del) deletion DEAF1-related condition [RCV003933692]|not provided [RCV002211169] Chr11:694962..694988 [GRCh38]
Chr11:694962..694988 [GRCh37]
Chr11:11p15.5		 likely benign|conflicting interpretations of pathogenicity
NM_021008.4(DEAF1):c.360C>T (p.Asn120=) single nucleotide variant not provided [RCV002127022] Chr11:691528 [GRCh38]
Chr11:691528 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.1242A>G (p.Ser414=) single nucleotide variant not provided [RCV002147055] Chr11:678707 [GRCh38]
Chr11:678707 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.1692C>T (p.Thr564=) single nucleotide variant DEAF1-related condition [RCV003911228]|not provided [RCV002187043] Chr11:644556 [GRCh38]
Chr11:644556 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.123G>A (p.Val41=) single nucleotide variant not provided [RCV002088343] Chr11:694925 [GRCh38]
Chr11:694925 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.930C>T (p.Pro310=) single nucleotide variant not provided [RCV002090795] Chr11:681030 [GRCh38]
Chr11:681030 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.72T>C (p.Ala24=) single nucleotide variant not provided [RCV002147421] Chr11:694976 [GRCh38]
Chr11:694976 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.1034G>C (p.Gly345Ala) single nucleotide variant not specified [RCV002247130] Chr11:679780 [GRCh38]
Chr11:679780 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.1161C>T (p.Ala387=) single nucleotide variant not provided [RCV002075494] Chr11:678788 [GRCh38]
Chr11:678788 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.1275G>A (p.Ala425=) single nucleotide variant not provided [RCV002210377] Chr11:674764 [GRCh38]
Chr11:674764 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.111G>A (p.Ala37=) single nucleotide variant not provided [RCV002080708] Chr11:694937 [GRCh38]
Chr11:694937 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.387+12C>T single nucleotide variant not provided [RCV002080909] Chr11:691489 [GRCh38]
Chr11:691489 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.1140C>T (p.Ser380=) single nucleotide variant not provided [RCV002174763] Chr11:678809 [GRCh38]
Chr11:678809 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.633C>T (p.Ser211=) single nucleotide variant DEAF1-related condition [RCV003923567]|not provided [RCV002097525] Chr11:687942 [GRCh38]
Chr11:687942 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.517+7C>T single nucleotide variant DEAF1-related condition [RCV003911281]|not provided [RCV002209445] Chr11:688324 [GRCh38]
Chr11:688324 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.997+7T>A single nucleotide variant not provided [RCV002134394] Chr11:680956 [GRCh38]
Chr11:680956 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.290-14T>A single nucleotide variant not provided [RCV002095105] Chr11:691612 [GRCh38]
Chr11:691612 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.6G>A (p.Glu2=) single nucleotide variant not provided [RCV002195213] Chr11:695042 [GRCh38]
Chr11:695042 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.1683G>A (p.Glu561=) single nucleotide variant not provided [RCV002092865] Chr11:644565 [GRCh38]
Chr11:644565 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.1504-8T>C single nucleotide variant not provided [RCV002091534] Chr11:654059 [GRCh38]
Chr11:654059 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.147G>A (p.Glu49=) single nucleotide variant not provided [RCV002080557] Chr11:694901 [GRCh38]
Chr11:694901 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.870+14G>A single nucleotide variant not provided [RCV002076913] Chr11:684884 [GRCh38]
Chr11:684884 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.1255+14A>G single nucleotide variant not provided [RCV002153539] Chr11:678680 [GRCh38]
Chr11:678680 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.1687G>A (p.Val563Met) single nucleotide variant not provided [RCV002075428] Chr11:644561 [GRCh38]
Chr11:644561 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.1521C>T (p.Cys507=) single nucleotide variant not provided [RCV002133089] Chr11:654034 [GRCh38]
Chr11:654034 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.714C>T (p.Thr238=) single nucleotide variant not provided [RCV002079883] Chr11:686948 [GRCh38]
Chr11:686948 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.388-17G>C single nucleotide variant not provided [RCV002092106] Chr11:688477 [GRCh38]
Chr11:688477 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.90G>C (p.Ala30=) single nucleotide variant not provided [RCV002080815] Chr11:694958 [GRCh38]
Chr11:694958 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.651C>T (p.Asn217=) single nucleotide variant not provided [RCV002212647] Chr11:687924 [GRCh38]
Chr11:687924 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.997+16C>T single nucleotide variant not provided [RCV002214599] Chr11:680947 [GRCh38]
Chr11:680947 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.336T>C (p.Asn112=) single nucleotide variant DEAF1-related condition [RCV003978674]|not provided [RCV002113382] Chr11:691552 [GRCh38]
Chr11:691552 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.615A>T (p.Val205=) single nucleotide variant not provided [RCV002185957] Chr11:687960 [GRCh38]
Chr11:687960 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.201G>A (p.Ala67=) single nucleotide variant not provided [RCV002196000] Chr11:694847 [GRCh38]
Chr11:694847 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.124C>T (p.Leu42=) single nucleotide variant not provided [RCV002186135] Chr11:694924 [GRCh38]
Chr11:694924 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.1518C>T (p.Asn506=) single nucleotide variant not provided [RCV002079482] Chr11:654037 [GRCh38]
Chr11:654037 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.612C>T (p.Pro204=) single nucleotide variant not provided [RCV002112443] Chr11:687963 [GRCh38]
Chr11:687963 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.1665G>A (p.Val555=) single nucleotide variant not provided [RCV002114437] Chr11:644583 [GRCh38]
Chr11:644583 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.221G>A (p.Gly74Glu) single nucleotide variant not provided [RCV002211168] Chr11:694827 [GRCh38]
Chr11:694827 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.804+10G>A single nucleotide variant not provided [RCV002115440] Chr11:686848 [GRCh38]
Chr11:686848 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.657C>T (p.Leu219=) single nucleotide variant not provided [RCV002105436] Chr11:687918 [GRCh38]
Chr11:687918 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.858C>T (p.Asp286=) single nucleotide variant not provided [RCV002152402] Chr11:684910 [GRCh38]
Chr11:684910 [GRCh37]
Chr11:11p15.5		 benign
NM_021008.4(DEAF1):c.252C>T (p.Pro84=) single nucleotide variant not provided [RCV002213039] Chr11:694796 [GRCh38]
Chr11:694796 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.1593+11C>G single nucleotide variant not provided [RCV002080293] Chr11:653951 [GRCh38]
Chr11:653951 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.1002C>T (p.Thr334=) single nucleotide variant not provided [RCV002088693] Chr11:679812 [GRCh38]
Chr11:679812 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.1089G>A (p.Glu363=) single nucleotide variant not provided [RCV002148464] Chr11:679725 [GRCh38]
Chr11:679725 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.21G>T (p.Ala7=) single nucleotide variant not provided [RCV002172625] Chr11:695027 [GRCh38]
Chr11:695027 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.1062G>A (p.Thr354=) single nucleotide variant not provided [RCV002096315] Chr11:679752 [GRCh38]
Chr11:679752 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.289+12C>T single nucleotide variant not provided [RCV002108737] Chr11:694747 [GRCh38]
Chr11:694747 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.153C>T (p.Asp51=) single nucleotide variant not provided [RCV002169844] Chr11:694895 [GRCh38]
Chr11:694895 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.1641C>A (p.Thr547=) single nucleotide variant not provided [RCV002197174] Chr11:644607 [GRCh38]
Chr11:644607 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.1653C>T (p.Asp551=) single nucleotide variant not provided [RCV002131358] Chr11:644595 [GRCh38]
Chr11:644595 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.985G>A (p.Ala329Thr) single nucleotide variant not provided [RCV002197099] Chr11:680975 [GRCh38]
Chr11:680975 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.289+13G>A single nucleotide variant not provided [RCV002136958] Chr11:694746 [GRCh38]
Chr11:694746 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.267C>T (p.Ala89=) single nucleotide variant not provided [RCV002119408] Chr11:694781 [GRCh38]
Chr11:694781 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.1620C>T (p.Cys540=) single nucleotide variant not provided [RCV002218438] Chr11:644628 [GRCh38]
Chr11:644628 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.1185C>T (p.Pro395=) single nucleotide variant not provided [RCV002197937] Chr11:678764 [GRCh38]
Chr11:678764 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.1137C>T (p.Ala379=) single nucleotide variant not provided [RCV002102127] Chr11:678812 [GRCh38]
Chr11:678812 [GRCh37]
Chr11:11p15.5		 benign
NM_021008.4(DEAF1):c.290-12C>T single nucleotide variant not provided [RCV002179527] Chr11:691610 [GRCh38]
Chr11:691610 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.781C>T (p.Arg261Ter) single nucleotide variant not provided [RCV002221760]   pathogenic|likely pathogenic
NM_021008.4(DEAF1):c.1338G>A (p.Glu446=) single nucleotide variant not provided [RCV002217392] Chr11:674701 [GRCh38]
Chr11:674701 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.870+13C>A single nucleotide variant not provided [RCV002178018] Chr11:684885 [GRCh38]
Chr11:684885 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.393T>G (p.Gly131=) single nucleotide variant not provided [RCV002202537] Chr11:688455 [GRCh38]
Chr11:688455 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.387+13G>A single nucleotide variant not provided [RCV002158840] Chr11:691488 [GRCh38]
Chr11:691488 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.1318G>A (p.Ala440Thr) single nucleotide variant Inborn genetic diseases [RCV003006998]|not provided [RCV002217745] Chr11:674721 [GRCh38]
Chr11:674721 [GRCh37]
Chr11:11p15.5		 likely benign|conflicting interpretations of pathogenicity
NM_021008.4(DEAF1):c.665-4G>A single nucleotide variant Inborn genetic diseases [RCV003088978]|not provided [RCV002161024] Chr11:687001 [GRCh38]
Chr11:687001 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.1674C>T (p.Ser558=) single nucleotide variant not provided [RCV002118927] Chr11:644574 [GRCh38]
Chr11:644574 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.1126+10T>A single nucleotide variant not provided [RCV002204894] Chr11:679678 [GRCh38]
Chr11:679678 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.1126+12C>T single nucleotide variant not provided [RCV002218471] Chr11:679676 [GRCh38]
Chr11:679676 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.518-4C>T single nucleotide variant not provided [RCV002184458] Chr11:688061 [GRCh38]
Chr11:688061 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.517+16C>T single nucleotide variant not provided [RCV002121498] Chr11:688315 [GRCh38]
Chr11:688315 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.216G>A (p.Glu72=) single nucleotide variant not provided [RCV002216670] Chr11:694832 [GRCh38]
Chr11:694832 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.54_86del (p.Val19_Ala29del) deletion not specified [RCV002248045] Chr11:694962..694994 [GRCh38]
Chr11:694962..694994 [GRCh37]
Chr11:11p15.5		 benign
NM_021008.4(DEAF1):c.664+17C>T single nucleotide variant not provided [RCV002083790] Chr11:687894 [GRCh38]
Chr11:687894 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.1482C>T (p.His494=) single nucleotide variant not provided [RCV002198473] Chr11:674557 [GRCh38]
Chr11:674557 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.103G>A (p.Gly35Ser) single nucleotide variant See cases [RCV002252563] Chr11:694945 [GRCh38]
Chr11:694945 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.789G>A (p.Leu263=) single nucleotide variant not provided [RCV002142519] Chr11:686873 [GRCh38]
Chr11:686873 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.172C>A (p.Arg58=) single nucleotide variant not provided [RCV002099413] Chr11:694876 [GRCh38]
Chr11:694876 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.290-4G>A single nucleotide variant not provided [RCV002182432] Chr11:691602 [GRCh38]
Chr11:691602 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.1032G>A (p.Ser344=) single nucleotide variant not provided [RCV002220518] Chr11:679782 [GRCh38]
Chr11:679782 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.1239G>A (p.Thr413=) single nucleotide variant not provided [RCV002137818] Chr11:678710 [GRCh38]
Chr11:678710 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.1011C>T (p.Pro337=) single nucleotide variant not provided [RCV002200560] Chr11:679803 [GRCh38]
Chr11:679803 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.993C>T (p.Thr331=) single nucleotide variant not provided [RCV002217491] Chr11:680967 [GRCh38]
Chr11:680967 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.1080C>T (p.Val360=) single nucleotide variant not provided [RCV002162330] Chr11:679734 [GRCh38]
Chr11:679734 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.1127-7C>T single nucleotide variant not provided [RCV002157300] Chr11:678829 [GRCh38]
Chr11:678829 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.926del (p.Leu309fs) deletion DEAF1-related condition [RCV003403729]|Intellectual disability, autosomal dominant 24 [RCV002222872]|not provided [RCV003089145] Chr11:681034 [GRCh38]
Chr11:681034 [GRCh37]
Chr11:11p15.5		 pathogenic|likely pathogenic
NM_021008.4(DEAF1):c.1350G>A (p.Pro450=) single nucleotide variant not provided [RCV002141811] Chr11:674689 [GRCh38]
Chr11:674689 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.486G>A (p.Gly162=) single nucleotide variant not provided [RCV002138797] Chr11:688362 [GRCh38]
Chr11:688362 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.897T>C (p.Pro299=) single nucleotide variant not provided [RCV002117679] Chr11:681063 [GRCh38]
Chr11:681063 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.1233G>A (p.Leu411=) single nucleotide variant not provided [RCV002100385] Chr11:678716 [GRCh38]
Chr11:678716 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.1371A>G (p.Glu457=) single nucleotide variant not provided [RCV002159913] Chr11:674668 [GRCh38]
Chr11:674668 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.870+11A>G single nucleotide variant not provided [RCV002219525] Chr11:684887 [GRCh38]
Chr11:684887 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.123G>C (p.Val41=) single nucleotide variant not provided [RCV002100723] Chr11:694925 [GRCh38]
Chr11:694925 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.1230G>A (p.Ala410=) single nucleotide variant not provided [RCV002144088] Chr11:678719 [GRCh38]
Chr11:678719 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.126G>A (p.Leu42=) single nucleotide variant not provided [RCV002162900] Chr11:694922 [GRCh38]
Chr11:694922 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.12G>C (p.Ser4=) single nucleotide variant not provided [RCV002082538] Chr11:695036 [GRCh38]
Chr11:695036 [GRCh37]
Chr11:11p15.5		 likely benign
NC_000011.9:g.(?_532636)_(819925_?)dup duplication Neutral lipid storage myopathy [RCV003109697] Chr11:532636..819925 [GRCh37]
Chr11:11p15.5		 uncertain significance
NC_000011.9:g.(?_694739)_(695047_?)del deletion not provided [RCV003109797] Chr11:694739..695047 [GRCh37]
Chr11:11p15.5		 pathogenic
NC_000011.9:g.(?_674516)_(674803_?)del deletion not provided [RCV003109798] Chr11:674516..674803 [GRCh37]
Chr11:11p15.5		 pathogenic
NC_000011.9:g.(?_653942)_(654071_?)del deletion not provided [RCV003109799] Chr11:653942..654071 [GRCh37]
Chr11:11p15.5		 uncertain significance
NC_000011.9:g.(?_678674)_(681109_?)del deletion not provided [RCV003109800] Chr11:678674..681109 [GRCh37]
Chr11:11p15.5		 pathogenic
NM_021008.4(DEAF1):c.254G>T (p.Gly85Val) single nucleotide variant not provided [RCV003118351] Chr11:694794 [GRCh38]
Chr11:694794 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.908G>A (p.Arg303His) single nucleotide variant not provided [RCV003115462] Chr11:681052 [GRCh38]
Chr11:681052 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.751G>A (p.Asp251Asn) single nucleotide variant not provided [RCV003112867] Chr11:686911 [GRCh38]
Chr11:686911 [GRCh37]
Chr11:11p15.5		 pathogenic
NM_021008.4(DEAF1):c.1316C>G (p.Pro439Arg) single nucleotide variant not provided [RCV003117868] Chr11:674723 [GRCh38]
Chr11:674723 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.1061C>T (p.Thr354Met) single nucleotide variant not provided [RCV003118467] Chr11:679753 [GRCh38]
Chr11:679753 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.54G>C (p.Ala18=) single nucleotide variant not provided [RCV003118534] Chr11:694994 [GRCh38]
Chr11:694994 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.1018C>A (p.Gln340Lys) single nucleotide variant not provided [RCV003121041] Chr11:679796 [GRCh38]
Chr11:679796 [GRCh37]
Chr11:11p15.5		 uncertain significance
NC_000011.9:g.(?_644550)_(795006_?)dup duplication Early infantile epileptic encephalopathy with suppression bursts [RCV003122703] Chr11:644550..795006 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.782G>C (p.Arg261Pro) single nucleotide variant Autosomal dominant non-syndromic intellectual disability [RCV003153287] Chr11:686880 [GRCh38]
Chr11:686880 [GRCh37]
Chr11:11p15.5		 likely pathogenic
NM_021008.4(DEAF1):c.883A>G (p.Arg295Gly) single nucleotide variant Intellectual disability, autosomal dominant 24 [RCV002249859] Chr11:681077 [GRCh38]
Chr11:681077 [GRCh37]
Chr11:11p15.5		 pathogenic
NM_021008.4(DEAF1):c.69_83del (p.Val25_Ala29del) deletion not provided [RCV003149551] Chr11:694965..694979 [GRCh38]
Chr11:694965..694979 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.913A>G (p.Lys305Glu) single nucleotide variant not provided [RCV003230149] Chr11:681047 [GRCh38]
Chr11:681047 [GRCh37]
Chr11:11p15.5		 uncertain significance
GRCh37/hg19 11p15.5-14.2(chr11:230615-26881146)x3 copy number gain See cases [RCV002286351] Chr11:230615..26881146 [GRCh37]
Chr11:11p15.5-14.2		 pathogenic
NM_021008.4(DEAF1):c.499G>A (p.Ala167Thr) single nucleotide variant not provided [RCV002265256] Chr11:688349 [GRCh38]
Chr11:688349 [GRCh37]
Chr11:11p15.5		 uncertain significance
NC_000011.10:g.(499700_4999400)_(5279346_5279697)del deletion Thalassemia, gamma-delta-beta [RCV000015529] Chr11:4999400..5279346 [GRCh38]
Chr11:11p15.5-15.4		 pathogenic
NM_021008.4(DEAF1):c.556G>C (p.Glu186Gln) single nucleotide variant not provided [RCV002292169] Chr11:688019 [GRCh38]
Chr11:688019 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.527C>A (p.Ser176Tyr) single nucleotide variant not specified [RCV002282919] Chr11:688048 [GRCh38]
Chr11:688048 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.849del (p.Cys284fs) deletion Neurodevelopmental delay [RCV002274410] Chr11:684919 [GRCh38]
Chr11:684919 [GRCh37]
Chr11:11p15.5		 likely pathogenic
NM_021008.4(DEAF1):c.197T>G (p.Val66Gly) single nucleotide variant Intellectual disability, autosomal dominant 24 [RCV002294559]|not provided [RCV003097848] Chr11:694851 [GRCh38]
Chr11:694851 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.748A>G (p.Lys250Glu) single nucleotide variant Intellectual disability, autosomal dominant 24 [RCV002264848] Chr11:686914 [GRCh38]
Chr11:686914 [GRCh37]
Chr11:11p15.5		 likely pathogenic
NM_021008.4(DEAF1):c.664G>A (p.Gly222Ser) single nucleotide variant Intellectual disability, autosomal dominant 24 [RCV002291469] Chr11:687911 [GRCh38]
Chr11:687911 [GRCh37]
Chr11:11p15.5		 likely pathogenic
NM_021008.4(DEAF1):c.677G>A (p.Arg226Gln) single nucleotide variant Intellectual disability-epilepsy-extrapyramidal syndrome [RCV002289286] Chr11:686985 [GRCh38]
Chr11:686985 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.815T>G (p.Leu272Ter) single nucleotide variant Intellectual disability-epilepsy-extrapyramidal syndrome [RCV002291311] Chr11:684953 [GRCh38]
Chr11:684953 [GRCh37]
Chr11:11p15.5		 pathogenic
NM_021008.4(DEAF1):c.706A>G (p.Ser236Gly) single nucleotide variant not provided [RCV003236140] Chr11:686956 [GRCh38]
Chr11:686956 [GRCh37]
Chr11:11p15.5		 likely pathogenic
NM_021008.4(DEAF1):c.411C>T (p.Ile137=) single nucleotide variant not provided [RCV002262299] Chr11:688437 [GRCh38]
Chr11:688437 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.998-2A>G single nucleotide variant not provided [RCV002281448] Chr11:679818 [GRCh38]
Chr11:679818 [GRCh37]
Chr11:11p15.5		 likely pathogenic
NM_021008.4(DEAF1):c.997+5G>A single nucleotide variant not provided [RCV002469488] Chr11:680958 [GRCh38]
Chr11:680958 [GRCh37]
Chr11:11p15.5		 likely pathogenic
NM_021008.4(DEAF1):c.827C>T (p.Ala276Val) single nucleotide variant Intellectual disability, autosomal dominant 24 [RCV003148051] Chr11:684941 [GRCh38]
Chr11:684941 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.970T>A (p.Leu324Met) single nucleotide variant Intellectual disability, autosomal dominant 24 [RCV003148272]|not provided [RCV003778889] Chr11:680990 [GRCh38]
Chr11:680990 [GRCh37]
Chr11:11p15.5		 likely benign|uncertain significance
GRCh37/hg19 11p15.5(chr11:461373-2157956)x4 copy number gain not provided [RCV002473945] Chr11:461373..2157956 [GRCh37]
Chr11:11p15.5		 pathogenic
NM_021008.4(DEAF1):c.809G>A (p.Gly270Glu) single nucleotide variant not provided [RCV002475048] Chr11:684959 [GRCh38]
Chr11:684959 [GRCh37]
Chr11:11p15.5		 uncertain significance
GRCh37/hg19 11p15.5-15.4(chr11:230616-8250724)x3 copy number gain not provided [RCV002472435] Chr11:230616..8250724 [GRCh37]
Chr11:11p15.5-15.4		 pathogenic
NM_021008.4(DEAF1):c.344C>A (p.Thr115Asn) single nucleotide variant not provided [RCV002304064] Chr11:691544 [GRCh38]
Chr11:691544 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.170A>G (p.Glu57Gly) single nucleotide variant not provided [RCV002304719] Chr11:694878 [GRCh38]
Chr11:694878 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.506C>G (p.Pro169Arg) single nucleotide variant not provided [RCV002304755] Chr11:688342 [GRCh38]
Chr11:688342 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.796C>T (p.Leu266Phe) single nucleotide variant not provided [RCV002305067] Chr11:686866 [GRCh38]
Chr11:686866 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.565G>A (p.Gly189Arg) single nucleotide variant not provided [RCV002300137] Chr11:688010 [GRCh38]
Chr11:688010 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.475G>A (p.Glu159Lys) single nucleotide variant not provided [RCV002296380] Chr11:688373 [GRCh38]
Chr11:688373 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.1195G>T (p.Asp399Tyr) single nucleotide variant not provided [RCV002299190] Chr11:678754 [GRCh38]
Chr11:678754 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.556G>A (p.Glu186Lys) single nucleotide variant not provided [RCV002299526] Chr11:688019 [GRCh38]
Chr11:688019 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.428C>G (p.Thr143Ser) single nucleotide variant not provided [RCV002302229] Chr11:688420 [GRCh38]
Chr11:688420 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.280G>A (p.Ala94Thr) single nucleotide variant Inborn genetic diseases [RCV003102262]|not provided [RCV002301658] Chr11:694768 [GRCh38]
Chr11:694768 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.38T>C (p.Leu13Pro) single nucleotide variant not provided [RCV002301702] Chr11:695010 [GRCh38]
Chr11:695010 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.664+17C>G single nucleotide variant not provided [RCV002615314] Chr11:687894 [GRCh38]
Chr11:687894 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.1593+9C>T single nucleotide variant not provided [RCV002615316] Chr11:653953 [GRCh38]
Chr11:653953 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.517+1G>T single nucleotide variant not provided [RCV002862267] Chr11:688330 [GRCh38]
Chr11:688330 [GRCh37]
Chr11:11p15.5		 likely pathogenic
NM_021008.4(DEAF1):c.957C>T (p.Pro319=) single nucleotide variant not provided [RCV002615311] Chr11:681003 [GRCh38]
Chr11:681003 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.271G>A (p.Ala91Thr) single nucleotide variant not provided [RCV002993796] Chr11:694777 [GRCh38]
Chr11:694777 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.73G>A (p.Val25Met) single nucleotide variant not provided [RCV002574737]|not specified [RCV002510472] Chr11:694975 [GRCh38]
Chr11:694975 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.1173G>C (p.Glu391Asp) single nucleotide variant not provided [RCV002904589] Chr11:678776 [GRCh38]
Chr11:678776 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.1054G>A (p.Ala352Thr) single nucleotide variant not provided [RCV002512439] Chr11:679760 [GRCh38]
Chr11:679760 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.1503+8T>C single nucleotide variant not provided [RCV003012162] Chr11:674528 [GRCh38]
Chr11:674528 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.1317C>T (p.Pro439=) single nucleotide variant not provided [RCV003098901] Chr11:674722 [GRCh38]
Chr11:674722 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.82G>C (p.Ala28Pro) single nucleotide variant Inborn genetic diseases [RCV002729859] Chr11:694966 [GRCh38]
Chr11:694966 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.51_86del (p.Val19_Ala30del) deletion not provided [RCV002993928] Chr11:694962..694997 [GRCh38]
Chr11:694962..694997 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.180G>C (p.Thr60=) single nucleotide variant not provided [RCV003032653] Chr11:694868 [GRCh38]
Chr11:694868 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.289+16G>A single nucleotide variant not provided [RCV003014489] Chr11:694743 [GRCh38]
Chr11:694743 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.1645C>T (p.Gln549Ter) single nucleotide variant not provided [RCV002975496] Chr11:644603 [GRCh38]
Chr11:644603 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.174G>A (p.Arg58=) single nucleotide variant not provided [RCV002750413] Chr11:694874 [GRCh38]
Chr11:694874 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.517+14T>C single nucleotide variant not provided [RCV003075685] Chr11:688317 [GRCh38]
Chr11:688317 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.1603G>T (p.Asp535Tyr) single nucleotide variant not provided [RCV002997020] Chr11:644645 [GRCh38]
Chr11:644645 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.1215G>A (p.Pro405=) single nucleotide variant not provided [RCV002947118] Chr11:678734 [GRCh38]
Chr11:678734 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.1059C>T (p.Ser353=) single nucleotide variant not provided [RCV002948150] Chr11:679755 [GRCh38]
Chr11:679755 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.1383C>A (p.Asn461Lys) single nucleotide variant not provided [RCV002996242] Chr11:674656 [GRCh38]
Chr11:674656 [GRCh37]
Chr11:11p15.5		 pathogenic|uncertain significance
NM_021008.4(DEAF1):c.1181A>T (p.Tyr394Phe) single nucleotide variant not provided [RCV003095399] Chr11:678768 [GRCh38]
Chr11:678768 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.1503+1G>A single nucleotide variant not provided [RCV002862949] Chr11:674535 [GRCh38]
Chr11:674535 [GRCh37]
Chr11:11p15.5		 likely pathogenic
NM_021008.4(DEAF1):c.871-16C>T single nucleotide variant not provided [RCV003074436] Chr11:681105 [GRCh38]
Chr11:681105 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.77C>T (p.Ala26Val) single nucleotide variant not provided [RCV003017215] Chr11:694971 [GRCh38]
Chr11:694971 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.1593+3A>C single nucleotide variant not provided [RCV003097580] Chr11:653959 [GRCh38]
Chr11:653959 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.729G>A (p.Met243Ile) single nucleotide variant not provided [RCV002462491] Chr11:686933 [GRCh38]
Chr11:686933 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.307G>A (p.Val103Met) single nucleotide variant not provided [RCV002462683] Chr11:691581 [GRCh38]
Chr11:691581 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.80C>G (p.Ala27Gly) single nucleotide variant Inborn genetic diseases [RCV002974568] Chr11:694968 [GRCh38]
Chr11:694968 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.837C>G (p.Cys279Trp) single nucleotide variant not provided [RCV002903180] Chr11:684931 [GRCh38]
Chr11:684931 [GRCh37]
Chr11:11p15.5		 conflicting interpretations of pathogenicity|uncertain significance
NM_021008.4(DEAF1):c.1352G>C (p.Arg451Pro) single nucleotide variant not provided [RCV002731111] Chr11:674687 [GRCh38]
Chr11:674687 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.61G>A (p.Ala21Thr) single nucleotide variant Inborn genetic diseases [RCV002793976] Chr11:694987 [GRCh38]
Chr11:694987 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.804+3A>G single nucleotide variant DEAF1-related condition [RCV003410058]|not provided [RCV003073959] Chr11:686855 [GRCh38]
Chr11:686855 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.856G>A (p.Asp286Asn) single nucleotide variant Intellectual disability-epilepsy-extrapyramidal syndrome [RCV003989788]|not provided [RCV002842726] Chr11:684912 [GRCh38]
Chr11:684912 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.1589G>A (p.Arg530His) single nucleotide variant not provided [RCV003075487] Chr11:653966 [GRCh38]
Chr11:653966 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.1110C>T (p.Val370=) single nucleotide variant not provided [RCV002755769] Chr11:679704 [GRCh38]
Chr11:679704 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.1686G>A (p.Lys562=) single nucleotide variant not provided [RCV002636525] Chr11:644562 [GRCh38]
Chr11:644562 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.95C>T (p.Ala32Val) single nucleotide variant not provided [RCV003039569] Chr11:694953 [GRCh38]
Chr11:694953 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.771C>T (p.Arg257=) single nucleotide variant not provided [RCV002889612] Chr11:686891 [GRCh38]
Chr11:686891 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.1456G>A (p.Ala486Thr) single nucleotide variant not provided [RCV002592128] Chr11:674583 [GRCh38]
Chr11:674583 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.1593+18C>G single nucleotide variant not provided [RCV002592807] Chr11:653944 [GRCh38]
Chr11:653944 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.1504-9T>C single nucleotide variant not provided [RCV002889145] Chr11:654060 [GRCh38]
Chr11:654060 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.1132G>T (p.Glu378Ter) single nucleotide variant not provided [RCV002871604] Chr11:678817 [GRCh38]
Chr11:678817 [GRCh37]
Chr11:11p15.5		 pathogenic
NM_021008.4(DEAF1):c.671G>C (p.Arg224Pro) single nucleotide variant not provided [RCV002889715] Chr11:686991 [GRCh38]
Chr11:686991 [GRCh37]
Chr11:11p15.5		 pathogenic|uncertain significance
NM_021008.4(DEAF1):c.348G>C (p.Thr116=) single nucleotide variant not provided [RCV002886309] Chr11:691540 [GRCh38]
Chr11:691540 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.997+18_997+19del microsatellite not provided [RCV002619785] Chr11:680944..680945 [GRCh38]
Chr11:680944..680945 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.63_80dup (p.Ala30_Ala31insValAlaAlaAlaAlaAla) duplication not provided [RCV002867014] Chr11:694967..694968 [GRCh38]
Chr11:694967..694968 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.644A>G (p.Tyr215Cys) single nucleotide variant not provided [RCV002622934] Chr11:687931 [GRCh38]
Chr11:687931 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_001042463.3(TMEM80):c.151C>T (p.Pro51Ser) single nucleotide variant not specified [RCV004244404] Chr11:700632 [GRCh38]
Chr11:700632 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.510C>G (p.Leu170=) single nucleotide variant DEAF1-related condition [RCV003961148]|not provided [RCV002867775] Chr11:688338 [GRCh38]
Chr11:688338 [GRCh37]
Chr11:11p15.5		 likely benign
NM_001042463.3(TMEM80):c.202C>G (p.Leu68Val) single nucleotide variant not specified [RCV004152389] Chr11:700683 [GRCh38]
Chr11:700683 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.1496G>A (p.Arg499Gln) single nucleotide variant not provided [RCV002735461] Chr11:674543 [GRCh38]
Chr11:674543 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.1611G>C (p.Gln537His) single nucleotide variant not provided [RCV002590501] Chr11:644637 [GRCh38]
Chr11:644637 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.1092T>C (p.Ser364=) single nucleotide variant not provided [RCV002638380] Chr11:679722 [GRCh38]
Chr11:679722 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.650A>G (p.Asn217Ser) single nucleotide variant not provided [RCV003053957] Chr11:687925 [GRCh38]
Chr11:687925 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.623G>C (p.Arg208Pro) single nucleotide variant Inborn genetic diseases [RCV002823125] Chr11:687952 [GRCh38]
Chr11:687952 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.870+16_870+17del microsatellite not provided [RCV002867064] Chr11:684881..684882 [GRCh38]
Chr11:684881..684882 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.1534A>G (p.Met512Val) single nucleotide variant not provided [RCV002886455] Chr11:654021 [GRCh38]
Chr11:654021 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.69_98del (p.Ala24_Ala33del) deletion not provided [RCV003037874] Chr11:694950..694979 [GRCh38]
Chr11:694950..694979 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.1493A>T (p.Glu498Val) single nucleotide variant not provided [RCV002706420] Chr11:674546 [GRCh38]
Chr11:674546 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.180G>T (p.Thr60=) single nucleotide variant not provided [RCV002886215] Chr11:694868 [GRCh38]
Chr11:694868 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.664+4A>C single nucleotide variant not provided [RCV002637754] Chr11:687907 [GRCh38]
Chr11:687907 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.612C>A (p.Pro204=) single nucleotide variant not provided [RCV003054860] Chr11:687963 [GRCh38]
Chr11:687963 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.1594-7C>A single nucleotide variant not provided [RCV002824528] Chr11:644661 [GRCh38]
Chr11:644661 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.1369G>C (p.Glu457Gln) single nucleotide variant not provided [RCV002640078] Chr11:674670 [GRCh38]
Chr11:674670 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_001042463.3(TMEM80):c.365C>T (p.Thr122Met) single nucleotide variant not specified [RCV004184397] Chr11:703083 [GRCh38]
Chr11:703083 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.27G>C (p.Lys9Asn) single nucleotide variant not provided [RCV003021106] Chr11:695021 [GRCh38]
Chr11:695021 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.388-20G>A single nucleotide variant not provided [RCV003079813] Chr11:688480 [GRCh38]
Chr11:688480 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.1387T>G (p.Leu463Val) single nucleotide variant not provided [RCV002823804] Chr11:674652 [GRCh38]
Chr11:674652 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.362C>T (p.Ala121Val) single nucleotide variant not provided [RCV003077297] Chr11:691526 [GRCh38]
Chr11:691526 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.1113C>T (p.Phe371=) single nucleotide variant not provided [RCV002912441] Chr11:679701 [GRCh38]
Chr11:679701 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.388-16C>T single nucleotide variant not provided [RCV002736737] Chr11:688476 [GRCh38]
Chr11:688476 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.1126+11C>T single nucleotide variant not provided [RCV002847828] Chr11:679677 [GRCh38]
Chr11:679677 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.1056G>T (p.Ala352=) single nucleotide variant not provided [RCV002621978] Chr11:679758 [GRCh38]
Chr11:679758 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.45G>C (p.Glu15Asp) single nucleotide variant not provided [RCV002927358] Chr11:695003 [GRCh38]
Chr11:695003 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.103G>C (p.Gly35Arg) single nucleotide variant not provided [RCV002780688] Chr11:694945 [GRCh38]
Chr11:694945 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.432A>G (p.Glu144=) single nucleotide variant not provided [RCV003055094] Chr11:688416 [GRCh38]
Chr11:688416 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.332A>G (p.Asp111Gly) single nucleotide variant not provided [RCV002953256] Chr11:691556 [GRCh38]
Chr11:691556 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.1277T>C (p.Leu426Pro) single nucleotide variant not provided [RCV002999988] Chr11:674762 [GRCh38]
Chr11:674762 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.51G>C (p.Ala17=) single nucleotide variant not provided [RCV003054763] Chr11:694997 [GRCh38]
Chr11:694997 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.1593+19_1593+20delinsTA indel not provided [RCV002923862] Chr11:653942..653943 [GRCh38]
Chr11:653942..653943 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.1026G>A (p.Thr342=) single nucleotide variant not provided [RCV002851330] Chr11:679788 [GRCh38]
Chr11:679788 [GRCh37]
Chr11:11p15.5		 likely benign
NM_001042463.1(TMEM80):c.17G>A single nucleotide variant not specified [RCV004184075] Chr11:695769 [GRCh38]
Chr11:695769 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.541C>T (p.Leu181=) single nucleotide variant not provided [RCV003085848] Chr11:688034 [GRCh38]
Chr11:688034 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.387+7T>C single nucleotide variant not provided [RCV003025533] Chr11:691494 [GRCh38]
Chr11:691494 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.96G>T (p.Ala32=) single nucleotide variant not provided [RCV003043222] Chr11:694952 [GRCh38]
Chr11:694952 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.86_87delinsTG (p.Ala29Val) indel not provided [RCV002667209] Chr11:694961..694962 [GRCh38]
Chr11:694961..694962 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.687G>A (p.Lys229=) single nucleotide variant not provided [RCV002830208] Chr11:686975 [GRCh38]
Chr11:686975 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.392G>A (p.Gly131Asp) single nucleotide variant Inborn genetic diseases [RCV002624901]|not provided [RCV002624902] Chr11:688456 [GRCh38]
Chr11:688456 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.636C>T (p.Gly212=) single nucleotide variant not provided [RCV002958983] Chr11:687939 [GRCh38]
Chr11:687939 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.997+3G>A single nucleotide variant not provided [RCV003041365] Chr11:680960 [GRCh38]
Chr11:680960 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.1383C>T (p.Asn461=) single nucleotide variant not provided [RCV002954192] Chr11:674656 [GRCh38]
Chr11:674656 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.598G>C (p.Asp200His) single nucleotide variant Inborn genetic diseases [RCV002594979]|not provided [RCV002594978] Chr11:687977 [GRCh38]
Chr11:687977 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.967A>C (p.Thr323Pro) single nucleotide variant not provided [RCV002851122] Chr11:680993 [GRCh38]
Chr11:680993 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.432A>C (p.Glu144Asp) single nucleotide variant not provided [RCV002982935] Chr11:688416 [GRCh38]
Chr11:688416 [GRCh37]
Chr11:11p15.5		 likely benign|uncertain significance
NM_021008.4(DEAF1):c.771C>A (p.Arg257=) single nucleotide variant not provided [RCV002741826] Chr11:686891 [GRCh38]
Chr11:686891 [GRCh37]
Chr11:11p15.5		 likely benign
NM_001042463.3(TMEM80):c.268G>A (p.Ala90Thr) single nucleotide variant not specified [RCV004079885] Chr11:702986 [GRCh38]
Chr11:702986 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.518-19A>G single nucleotide variant not provided [RCV002711364] Chr11:688076 [GRCh38]
Chr11:688076 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.1594-6_1594-3del deletion not provided [RCV002594470] Chr11:644657..644660 [GRCh38]
Chr11:644657..644660 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.598G>A (p.Asp200Asn) single nucleotide variant Inborn genetic diseases [RCV002890551]|not provided [RCV002890550] Chr11:687977 [GRCh38]
Chr11:687977 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.597C>T (p.Tyr199=) single nucleotide variant not provided [RCV003082987] Chr11:687978 [GRCh38]
Chr11:687978 [GRCh37]
Chr11:11p15.5		 likely benign
NM_001042463.3(TMEM80):c.322T>C (p.Trp108Arg) single nucleotide variant not specified [RCV004089150] Chr11:703040 [GRCh38]
Chr11:703040 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.1141G>A (p.Val381Met) single nucleotide variant not provided [RCV003084494] Chr11:678808 [GRCh38]
Chr11:678808 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.907C>T (p.Arg303Cys) single nucleotide variant not provided [RCV002741433] Chr11:681053 [GRCh38]
Chr11:681053 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_001042463.3(TMEM80):c.118A>G (p.Met40Val) single nucleotide variant not specified [RCV004162705] Chr11:700220 [GRCh38]
Chr11:700220 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.46G>T (p.Ala16Ser) single nucleotide variant not provided [RCV003007558] Chr11:695002 [GRCh38]
Chr11:695002 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.563G>A (p.Gly188Asp) single nucleotide variant Inborn genetic diseases [RCV004066831]|not provided [RCV002663729] Chr11:688012 [GRCh38]
Chr11:688012 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.75GGC[5] (p.Ala33_Gly34insAla) microsatellite not provided [RCV002953972] Chr11:694961..694962 [GRCh38]
Chr11:694961..694962 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.1100A>C (p.Gln367Pro) single nucleotide variant not provided [RCV002917453] Chr11:679714 [GRCh38]
Chr11:679714 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.203T>C (p.Val68Ala) single nucleotide variant not provided [RCV003024604] Chr11:694845 [GRCh38]
Chr11:694845 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.1593+5G>T single nucleotide variant not provided [RCV003059411] Chr11:653957 [GRCh38]
Chr11:653957 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.810G>C (p.Gly270=) single nucleotide variant not provided [RCV003056091] Chr11:684958 [GRCh38]
Chr11:684958 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.21G>A (p.Ala7=) single nucleotide variant not provided [RCV003084891] Chr11:695027 [GRCh38]
Chr11:695027 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.1522G>A (p.Gly508Ser) single nucleotide variant not provided [RCV003056700] Chr11:654033 [GRCh38]
Chr11:654033 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.805-5C>T single nucleotide variant not provided [RCV002932084] Chr11:684968 [GRCh38]
Chr11:684968 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.642_643del (p.Tyr215fs) deletion not provided [RCV002872001] Chr11:687932..687933 [GRCh38]
Chr11:687932..687933 [GRCh37]
Chr11:11p15.5		 pathogenic
NM_021008.4(DEAF1):c.979G>T (p.Ala327Ser) single nucleotide variant not provided [RCV003004962] Chr11:680981 [GRCh38]
Chr11:680981 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.1504-7_1504-5del microsatellite not provided [RCV002625281] Chr11:654056..654058 [GRCh38]
Chr11:654056..654058 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.723G>C (p.Glu241Asp) single nucleotide variant Inborn genetic diseases [RCV002930861] Chr11:686939 [GRCh38]
Chr11:686939 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.63_80del (p.19VAAAAA[1]) deletion not provided [RCV002918515] Chr11:694968..694985 [GRCh38]
Chr11:694968..694985 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.237C>T (p.Gly79=) single nucleotide variant not provided [RCV003085318] Chr11:694811 [GRCh38]
Chr11:694811 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.1126+18C>T single nucleotide variant not provided [RCV002765424] Chr11:679670 [GRCh38]
Chr11:679670 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.324T>C (p.Ala108=) single nucleotide variant not provided [RCV002765428] Chr11:691564 [GRCh38]
Chr11:691564 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.1572C>T (p.Cys524=) single nucleotide variant not provided [RCV003042679] Chr11:653983 [GRCh38]
Chr11:653983 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.932C>T (p.Thr311Ile) single nucleotide variant not provided [RCV002593968] Chr11:681028 [GRCh38]
Chr11:681028 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.724G>A (p.Ala242Thr) single nucleotide variant not provided [RCV003025351] Chr11:686938 [GRCh38]
Chr11:686938 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.1447T>C (p.Tyr483His) single nucleotide variant not provided [RCV002667576] Chr11:674592 [GRCh38]
Chr11:674592 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.805-8C>T single nucleotide variant not provided [RCV003005962] Chr11:684971 [GRCh38]
Chr11:684971 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.118_131dup (p.Arg44delinsSerArgCysTer) duplication not provided [RCV002629941] Chr11:694916..694917 [GRCh38]
Chr11:694916..694917 [GRCh37]
Chr11:11p15.5		 pathogenic
NM_001042463.3(TMEM80):c.8C>T (p.Ala3Val) single nucleotide variant not specified [RCV004184967] Chr11:695835 [GRCh38]
Chr11:695835 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.185G>T (p.Arg62Leu) single nucleotide variant Inborn genetic diseases [RCV003008652] Chr11:694863 [GRCh38]
Chr11:694863 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.1115C>T (p.Ala372Val) single nucleotide variant not provided [RCV002810887] Chr11:679699 [GRCh38]
Chr11:679699 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.251C>G (p.Pro84Arg) single nucleotide variant not provided [RCV002922732] Chr11:694797 [GRCh38]
Chr11:694797 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.1148C>T (p.Pro383Leu) single nucleotide variant not provided [RCV002632325] Chr11:678801 [GRCh38]
Chr11:678801 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.1653C>G (p.Asp551Glu) single nucleotide variant not provided [RCV003048718] Chr11:644595 [GRCh38]
Chr11:644595 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.119C>T (p.Pro40Leu) single nucleotide variant not provided [RCV003046768] Chr11:694929 [GRCh38]
Chr11:694929 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.788T>C (p.Leu263Ser) single nucleotide variant not provided [RCV003031057] Chr11:686874 [GRCh38]
Chr11:686874 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.289+9G>A single nucleotide variant not provided [RCV002715370] Chr11:694750 [GRCh38]
Chr11:694750 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.111G>T (p.Ala37=) single nucleotide variant not provided [RCV002671912] Chr11:694937 [GRCh38]
Chr11:694937 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.69C>A (p.Ala23=) single nucleotide variant not provided [RCV002671913] Chr11:694979 [GRCh38]
Chr11:694979 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.167C>A (p.Ala56Glu) single nucleotide variant not provided [RCV002647216] Chr11:694881 [GRCh38]
Chr11:694881 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.48G>C (p.Ala16=) single nucleotide variant not provided [RCV002630448] Chr11:695000 [GRCh38]
Chr11:695000 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.1056G>A (p.Ala352=) single nucleotide variant not provided [RCV003060743] Chr11:679758 [GRCh38]
Chr11:679758 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.741C>T (p.Ala247=) single nucleotide variant not provided [RCV002629312] Chr11:686921 [GRCh38]
Chr11:686921 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.438G>A (p.Ala146=) single nucleotide variant not provided [RCV002671744] Chr11:688410 [GRCh38]
Chr11:688410 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.1615A>G (p.Ile539Val) single nucleotide variant not provided [RCV002649863] Chr11:644633 [GRCh38]
Chr11:644633 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.1288C>T (p.Pro430Ser) single nucleotide variant not provided [RCV002671278] Chr11:674751 [GRCh38]
Chr11:674751 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.994A>G (p.Thr332Ala) single nucleotide variant Inborn genetic diseases [RCV002920532] Chr11:680966 [GRCh38]
Chr11:680966 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.72_101del (p.Val25_Gly34del) deletion not provided [RCV003047089] Chr11:694947..694976 [GRCh38]
Chr11:694947..694976 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.1044C>T (p.Thr348=) single nucleotide variant not provided [RCV002810565] Chr11:679770 [GRCh38]
Chr11:679770 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.1319C>T (p.Ala440Val) single nucleotide variant not provided [RCV003087890] Chr11:674720 [GRCh38]
Chr11:674720 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.963C>T (p.Asn321=) single nucleotide variant not provided [RCV002746152] Chr11:680997 [GRCh38]
Chr11:680997 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.770G>A (p.Arg257His) single nucleotide variant not provided [RCV002577160] Chr11:686892 [GRCh38]
Chr11:686892 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.1642G>A (p.Val548Ile) single nucleotide variant not provided [RCV002923015] Chr11:644606 [GRCh38]
Chr11:644606 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.192G>C (p.Thr64=) single nucleotide variant not provided [RCV003086199] Chr11:694856 [GRCh38]
Chr11:694856 [GRCh37]
Chr11:11p15.5		 likely benign
NM_001042463.3(TMEM80):c.157C>T (p.Arg53Cys) single nucleotide variant not specified [RCV004208211] Chr11:700638 [GRCh38]
Chr11:700638 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_001042463.3(TMEM80):c.5C>T (p.Ala2Val) single nucleotide variant not specified [RCV004225100] Chr11:695832 [GRCh38]
Chr11:695832 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.1256-2_1258del deletion not provided [RCV002806305] Chr11:674781..674785 [GRCh38]
Chr11:674781..674785 [GRCh37]
Chr11:11p15.5		 likely pathogenic
NM_021008.4(DEAF1):c.1433A>G (p.Lys478Arg) single nucleotide variant not provided [RCV003045205] Chr11:674606 [GRCh38]
Chr11:674606 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_001042463.3(TMEM80):c.394G>A (p.Val132Ile) single nucleotide variant not specified [RCV004171916] Chr11:703112 [GRCh38]
Chr11:703112 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.1150C>T (p.Pro384Ser) single nucleotide variant not provided [RCV003029811] Chr11:678799 [GRCh38]
Chr11:678799 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.1141G>T (p.Val381Leu) single nucleotide variant not provided [RCV003051967] Chr11:678808 [GRCh38]
Chr11:678808 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.357G>A (p.Ala119=) single nucleotide variant not provided [RCV002605295] Chr11:691531 [GRCh38]
Chr11:691531 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.158A>T (p.Asp53Val) single nucleotide variant not provided [RCV003052046] Chr11:694890 [GRCh38]
Chr11:694890 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.489G>A (p.Leu163=) single nucleotide variant not provided [RCV003049902] Chr11:688359 [GRCh38]
Chr11:688359 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.804+9C>T single nucleotide variant not provided [RCV002634269] Chr11:686849 [GRCh38]
Chr11:686849 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.429C>T (p.Thr143=) single nucleotide variant not provided [RCV003092758] Chr11:688419 [GRCh38]
Chr11:688419 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.1071C>T (p.Ala357=) single nucleotide variant not provided [RCV003032033] Chr11:679743 [GRCh38]
Chr11:679743 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.925C>T (p.Leu309=) single nucleotide variant not provided [RCV002654966] Chr11:681035 [GRCh38]
Chr11:681035 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.101G>A (p.Gly34Glu) single nucleotide variant not provided [RCV002654083] Chr11:694947 [GRCh38]
Chr11:694947 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.1127-2A>G single nucleotide variant not provided [RCV002653933] Chr11:678824 [GRCh38]
Chr11:678824 [GRCh37]
Chr11:11p15.5		 likely pathogenic
NM_021008.4(DEAF1):c.537C>G (p.Thr179=) single nucleotide variant not provided [RCV002585727] Chr11:688038 [GRCh38]
Chr11:688038 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.1503+15A>T single nucleotide variant not provided [RCV003071378] Chr11:674521 [GRCh38]
Chr11:674521 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.411C>G (p.Ile137Met) single nucleotide variant not provided [RCV003070290] Chr11:688437 [GRCh38]
Chr11:688437 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.704A>G (p.Tyr235Cys) single nucleotide variant not provided [RCV002606865] Chr11:686958 [GRCh38]
Chr11:686958 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.665-7C>T single nucleotide variant not provided [RCV002606885] Chr11:687004 [GRCh38]
Chr11:687004 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.1627T>G (p.Ser543Ala) single nucleotide variant not provided [RCV002942662] Chr11:644621 [GRCh38]
Chr11:644621 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.81G>C (p.Ala27=) single nucleotide variant DEAF1-related condition [RCV003953919]|not provided [RCV002606125] Chr11:694967 [GRCh38]
Chr11:694967 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.226A>G (p.Met76Val) single nucleotide variant not provided [RCV002606164] Chr11:694822 [GRCh38]
Chr11:694822 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.498G>A (p.Pro166=) single nucleotide variant not provided [RCV003051084] Chr11:688350 [GRCh38]
Chr11:688350 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.1127-17C>G single nucleotide variant not provided [RCV002611140] Chr11:678839 [GRCh38]
Chr11:678839 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.1127-11C>A single nucleotide variant not provided [RCV003071865] Chr11:678833 [GRCh38]
Chr11:678833 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.129C>T (p.Ser43=) single nucleotide variant not provided [RCV002588864] Chr11:694919 [GRCh38]
Chr11:694919 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.744C>T (p.Ser248=) single nucleotide variant not provided [RCV002583315] Chr11:686918 [GRCh38]
Chr11:686918 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.1495C>T (p.Arg499Trp) single nucleotide variant not provided [RCV002582277] Chr11:674544 [GRCh38]
Chr11:674544 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.1209C>G (p.Ile403Met) single nucleotide variant not provided [RCV003050724] Chr11:678740 [GRCh38]
Chr11:678740 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.1100A>G (p.Gln367Arg) single nucleotide variant not provided [RCV003066295] Chr11:679714 [GRCh38]
Chr11:679714 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.76G>C (p.Ala26Pro) single nucleotide variant Inborn genetic diseases [RCV003257605] Chr11:694972 [GRCh38]
Chr11:694972 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.955C>A (p.Pro319Thr) single nucleotide variant not provided [RCV003146032] Chr11:681005 [GRCh38]
Chr11:681005 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.63_83del (p.Val25_Ala31del) deletion Inborn genetic diseases [RCV003214280] Chr11:694965..694985 [GRCh38]
Chr11:694965..694985 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.277G>A (p.Ala93Thr) single nucleotide variant not provided [RCV003225367] Chr11:694771 [GRCh38]
Chr11:694771 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.689_690del (p.Gln230fs) deletion not provided [RCV003146031] Chr11:686972..686973 [GRCh38]
Chr11:686972..686973 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.759_763del (p.Arg254fs) deletion not provided [RCV003222686] Chr11:686899..686903 [GRCh38]
Chr11:686899..686903 [GRCh37]
Chr11:11p15.5		 likely pathogenic
NM_021008.4(DEAF1):c.1489G>C (p.Ala497Pro) single nucleotide variant not provided [RCV003146033] Chr11:674550 [GRCh38]
Chr11:674550 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.56_91del (p.Val19_Ala30del) deletion not provided [RCV003146030] Chr11:694957..694992 [GRCh38]
Chr11:694957..694992 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.382G>A (p.Val128Ile) single nucleotide variant Intellectual disability, autosomal dominant 24 [RCV003140509] Chr11:691506 [GRCh38]
Chr11:691506 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_001042463.3(TMEM80):c.344C>T (p.Ala115Val) single nucleotide variant not specified [RCV004250320] Chr11:703062 [GRCh38]
Chr11:703062 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.1490C>T (p.Ala497Val) single nucleotide variant not provided [RCV003159322] Chr11:674549 [GRCh38]
Chr11:674549 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.69_74del (p.Val25_Ala26del) deletion not provided [RCV003319669] Chr11:694974..694979 [GRCh38]
Chr11:694974..694979 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.689A>C (p.Gln230Pro) single nucleotide variant not provided [RCV003329760] Chr11:686973 [GRCh38]
Chr11:686973 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_001042463.3(TMEM80):c.352G>A (p.Ala118Thr) single nucleotide variant not specified [RCV004336688] Chr11:703070 [GRCh38]
Chr11:703070 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.136G>T (p.Glu46Ter) single nucleotide variant not provided [RCV003332487] Chr11:694912 [GRCh38]
Chr11:694912 [GRCh37]
Chr11:11p15.5		 likely pathogenic
NM_021008.4(DEAF1):c.1016_1022delinsTGGG (p.Gly339_Ile341delinsValGly) indel not provided [RCV003332683] Chr11:679792..679798 [GRCh38]
Chr11:679792..679798 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.1536G>C (p.Met512Ile) single nucleotide variant Intellectual disability, autosomal dominant 24 [RCV003458286] Chr11:654019 [GRCh38]
Chr11:654019 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.446T>C (p.Ile149Thr) single nucleotide variant not provided [RCV003569462] Chr11:688402 [GRCh38]
Chr11:688402 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.662C>T (p.Ser221Leu) single nucleotide variant not provided [RCV003569468] Chr11:687913 [GRCh38]
Chr11:687913 [GRCh37]
Chr11:11p15.5		 likely pathogenic
NM_021008.4(DEAF1):c.438G>C (p.Ala146=) single nucleotide variant not provided [RCV003571685] Chr11:688410 [GRCh38]
Chr11:688410 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.303G>A (p.Val101=) single nucleotide variant not provided [RCV003873774] Chr11:691585 [GRCh38]
Chr11:691585 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.653G>C (p.Arg218Thr) single nucleotide variant not provided [RCV003570954] Chr11:687922 [GRCh38]
Chr11:687922 [GRCh37]
Chr11:11p15.5		 pathogenic
NM_021008.4(DEAF1):c.1256-16T>G single nucleotide variant not provided [RCV003543002] Chr11:674799 [GRCh38]
Chr11:674799 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.664+14del deletion not provided [RCV003571876] Chr11:687897 [GRCh38]
Chr11:687897 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.870+3A>T single nucleotide variant not provided [RCV003571150] Chr11:684895 [GRCh38]
Chr11:684895 [GRCh37]
Chr11:11p15.5		 uncertain significance
GRCh37/hg19 11p15.5-15.4(chr11:192764-3362853)x3 copy number gain not provided [RCV003484828] Chr11:192764..3362853 [GRCh37]
Chr11:11p15.5-15.4		 pathogenic
NM_021008.4(DEAF1):c.869T>C (p.Leu290Ser) single nucleotide variant not provided [RCV003405219] Chr11:684899 [GRCh38]
Chr11:684899 [GRCh37]
Chr11:11p15.5		 uncertain significance
GRCh37/hg19 11p15.5-15.4(chr11:230615-8821443)x3 copy number gain Russell-Silver syndrome [RCV003444025] Chr11:230615..8821443 [GRCh37]
Chr11:11p15.5-15.4		 pathogenic
NM_021008.4(DEAF1):c.136G>C (p.Glu46Gln) single nucleotide variant Intellectual disability-epilepsy-extrapyramidal syndrome [RCV003388802] Chr11:694912 [GRCh38]
Chr11:694912 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.121G>A (p.Val41Met) single nucleotide variant DEAF1-related condition [RCV003391297]|not provided [RCV003778211] Chr11:694927 [GRCh38]
Chr11:694927 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_001367390.1(DEAF1):c.-438+2046C>T single nucleotide variant not provided [RCV003422916] Chr11:704526 [GRCh38]
Chr11:704526 [GRCh37]
Chr11:11p15.5		 likely benign
NM_001042463.3(TMEM80):c.80G>A (p.Gly27Glu) single nucleotide variant not provided [RCV003422915] Chr11:700182 [GRCh38]
Chr11:700182 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.683T>C (p.Ile228Thr) single nucleotide variant DEAF1-related condition [RCV003416857] Chr11:686979 [GRCh38]
Chr11:686979 [GRCh37]
Chr11:11p15.5		 likely pathogenic
NM_021008.4(DEAF1):c.*5C>T single nucleotide variant DEAF1-related condition [RCV003399839] Chr11:644545 [GRCh38]
Chr11:644545 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.1082_1086del (p.Ile361fs) deletion DEAF1-related condition [RCV003410804] Chr11:679728..679732 [GRCh38]
Chr11:679728..679732 [GRCh37]
Chr11:11p15.5		 likely pathogenic
NM_021008.4(DEAF1):c.910A>G (p.Lys304Glu) single nucleotide variant not provided [RCV003441623] Chr11:681050 [GRCh38]
Chr11:681050 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_001042463.3(TMEM80):c.9C>T (p.Ala3=) single nucleotide variant not provided [RCV003422914] Chr11:695836 [GRCh38]
Chr11:695836 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.665-14G>T single nucleotide variant not provided [RCV003694192] Chr11:687011 [GRCh38]
Chr11:687011 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.1594-3C>T single nucleotide variant not provided [RCV003691792] Chr11:644657 [GRCh38]
Chr11:644657 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.1662C>T (p.His554=) single nucleotide variant not provided [RCV003739918] Chr11:644586 [GRCh38]
Chr11:644586 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.60G>C (p.Ala20=) single nucleotide variant not provided [RCV003694237] Chr11:694988 [GRCh38]
Chr11:694988 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.569C>G (p.Thr190Ser) single nucleotide variant not provided [RCV003695549] Chr11:688006 [GRCh38]
Chr11:688006 [GRCh37]
Chr11:11p15.5		 uncertain significance
GRCh38/hg38 11p15.5(chr11:313988-723647) copy number loss Autism spectrum disorder [RCV003883401] Chr11:313988..723647 [GRCh38]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.155C>G (p.Ala52Gly) single nucleotide variant not provided [RCV003739253] Chr11:694893 [GRCh38]
Chr11:694893 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.42T>C (p.Ala14=) single nucleotide variant not provided [RCV003739254] Chr11:695006 [GRCh38]
Chr11:695006 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.977C>T (p.Pro326Leu) single nucleotide variant not provided [RCV003696185] Chr11:680983 [GRCh38]
Chr11:680983 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.794G>C (p.Cys265Ser) single nucleotide variant Inborn genetic diseases [RCV004374359]|not provided [RCV003739383] Chr11:686868 [GRCh38]
Chr11:686868 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.388-11T>C single nucleotide variant not provided [RCV003714922] Chr11:688471 [GRCh38]
Chr11:688471 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.56_79dup (p.Ala26_Ala27insValAlaAlaAlaAlaAlaValAla) duplication not provided [RCV003696376] Chr11:694968..694969 [GRCh38]
Chr11:694968..694969 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.300A>G (p.Thr100=) single nucleotide variant not provided [RCV003849307] Chr11:691588 [GRCh38]
Chr11:691588 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.1451G>A (p.Arg484Gln) single nucleotide variant not provided [RCV003696648] Chr11:674588 [GRCh38]
Chr11:674588 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.1593+5G>A single nucleotide variant not provided [RCV003662326] Chr11:653957 [GRCh38]
Chr11:653957 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.1657dup (p.Val553fs) duplication not provided [RCV003693960] Chr11:644590..644591 [GRCh38]
Chr11:644590..644591 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.450C>T (p.Val150=) single nucleotide variant not provided [RCV003579587] Chr11:688398 [GRCh38]
Chr11:688398 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.1663G>A (p.Val555Met) single nucleotide variant not provided [RCV003738752] Chr11:644585 [GRCh38]
Chr11:644585 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.56_58dup (p.Val19_Ala20insVal) duplication not provided [RCV003739263] Chr11:694989..694990 [GRCh38]
Chr11:694989..694990 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.805-18G>C single nucleotide variant not provided [RCV003714383] Chr11:684981 [GRCh38]
Chr11:684981 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.1594-4C>T single nucleotide variant not provided [RCV003663255] Chr11:644658 [GRCh38]
Chr11:644658 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.98C>T (p.Ala33Val) single nucleotide variant not provided [RCV003688380] Chr11:694950 [GRCh38]
Chr11:694950 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.895C>T (p.Pro299Ser) single nucleotide variant not provided [RCV003573880] Chr11:681065 [GRCh38]
Chr11:681065 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.161C>G (p.Ser54Trp) single nucleotide variant not provided [RCV003694946] Chr11:694887 [GRCh38]
Chr11:694887 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.760A>G (p.Arg254Gly) single nucleotide variant not provided [RCV003490677] Chr11:686902 [GRCh38]
Chr11:686902 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.1396A>T (p.Thr466Ser) single nucleotide variant not provided [RCV003694053] Chr11:674643 [GRCh38]
Chr11:674643 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.870A>C (p.Leu290Phe) single nucleotide variant not provided [RCV003690410] Chr11:684898 [GRCh38]
Chr11:684898 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.1691C>A (p.Thr564Asn) single nucleotide variant not provided [RCV003694740] Chr11:644557 [GRCh38]
Chr11:644557 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.220G>A (p.Gly74Arg) single nucleotide variant not provided [RCV003662437] Chr11:694828 [GRCh38]
Chr11:694828 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.664+20A>T single nucleotide variant not provided [RCV003663507] Chr11:687891 [GRCh38]
Chr11:687891 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.862A>G (p.Met288Val) single nucleotide variant not provided [RCV003687182] Chr11:684906 [GRCh38]
Chr11:684906 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.1594-19G>A single nucleotide variant not provided [RCV003713500] Chr11:644673 [GRCh38]
Chr11:644673 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.385C>A (p.Leu129Met) single nucleotide variant not provided [RCV003547061] Chr11:691503 [GRCh38]
Chr11:691503 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.1641C>T (p.Thr547=) single nucleotide variant not provided [RCV003573645] Chr11:644607 [GRCh38]
Chr11:644607 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.782G>A (p.Arg261Gln) single nucleotide variant not provided [RCV003544484] Chr11:686880 [GRCh38]
Chr11:686880 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.173G>A (p.Arg58Gln) single nucleotide variant not provided [RCV003690213] Chr11:694875 [GRCh38]
Chr11:694875 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.1596C>G (p.Asp532Glu) single nucleotide variant not provided [RCV003739799] Chr11:644652 [GRCh38]
Chr11:644652 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.-163_64del (p.Met1fs) deletion not provided [RCV003695364] Chr11:694984..695210 [GRCh38]
Chr11:694984..695210 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.1195G>A (p.Asp399Asn) single nucleotide variant not provided [RCV003691950] Chr11:678754 [GRCh38]
Chr11:678754 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.968C>G (p.Thr323Arg) single nucleotide variant not provided [RCV003544230] Chr11:680992 [GRCh38]
Chr11:680992 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.72T>G (p.Ala24=) single nucleotide variant DEAF1-related condition [RCV003901115]|not provided [RCV003545529] Chr11:694976 [GRCh38]
Chr11:694976 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.114G>T (p.Glu38Asp) single nucleotide variant not provided [RCV003715823] Chr11:694934 [GRCh38]
Chr11:694934 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.1029C>T (p.Thr343=) single nucleotide variant not provided [RCV003716143] Chr11:679785 [GRCh38]
Chr11:679785 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.966C>T (p.Ile322=) single nucleotide variant not provided [RCV003661602] Chr11:680994 [GRCh38]
Chr11:680994 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.1448A>T (p.Tyr483Phe) single nucleotide variant not provided [RCV003689284] Chr11:674591 [GRCh38]
Chr11:674591 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.1214C>A (p.Pro405Gln) single nucleotide variant not provided [RCV003716285] Chr11:678735 [GRCh38]
Chr11:678735 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.75GGC[6] (p.Ala33_Gly34insAlaAla) microsatellite not provided [RCV003572180] Chr11:694961..694962 [GRCh38]
Chr11:694961..694962 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.1441A>G (p.Ser481Gly) single nucleotide variant not provided [RCV003699705] Chr11:674598 [GRCh38]
Chr11:674598 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.849C>T (p.Ala283=) single nucleotide variant not provided [RCV003664242] Chr11:684919 [GRCh38]
Chr11:684919 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.1126+13A>G single nucleotide variant not provided [RCV003834872] Chr11:679675 [GRCh38]
Chr11:679675 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.138G>C (p.Glu46Asp) single nucleotide variant not provided [RCV003699334] Chr11:694910 [GRCh38]
Chr11:694910 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.1538_1546del (p.Ser513_Cys515del) deletion not provided [RCV003697194] Chr11:654009..654017 [GRCh38]
Chr11:654009..654017 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.1200C>T (p.Ser400=) single nucleotide variant not provided [RCV003701471] Chr11:678749 [GRCh38]
Chr11:678749 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.1400C>T (p.Ala467Val) single nucleotide variant not provided [RCV003856040] Chr11:674639 [GRCh38]
Chr11:674639 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.981C>T (p.Ala327=) single nucleotide variant not provided [RCV003670454] Chr11:680979 [GRCh38]
Chr11:680979 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.88G>A (p.Ala30Thr) single nucleotide variant not provided [RCV003548705] Chr11:694960 [GRCh38]
Chr11:694960 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.998-13T>C single nucleotide variant not provided [RCV003562165] Chr11:679829 [GRCh38]
Chr11:679829 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.777G>A (p.Ala259=) single nucleotide variant not provided [RCV003717785] Chr11:686885 [GRCh38]
Chr11:686885 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.1269G>A (p.Leu423=) single nucleotide variant not provided [RCV003701041] Chr11:674770 [GRCh38]
Chr11:674770 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.984C>T (p.Thr328=) single nucleotide variant not provided [RCV003700898] Chr11:680976 [GRCh38]
Chr11:680976 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.1188C>G (p.Gly396=) single nucleotide variant not provided [RCV003702094] Chr11:678761 [GRCh38]
Chr11:678761 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.380A>C (p.His127Pro) single nucleotide variant not provided [RCV003817651] Chr11:691508 [GRCh38]
Chr11:691508 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.1353G>A (p.Arg451=) single nucleotide variant not provided [RCV003671832] Chr11:674686 [GRCh38]
Chr11:674686 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.871-14C>T single nucleotide variant not provided [RCV003839210] Chr11:681103 [GRCh38]
Chr11:681103 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.289G>A (p.Glu97Lys) single nucleotide variant not provided [RCV003668919] Chr11:694759 [GRCh38]
Chr11:694759 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.1119G>A (p.Gly373=) single nucleotide variant not provided [RCV003814022] Chr11:679695 [GRCh38]
Chr11:679695 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.1095G>A (p.Pro365=) single nucleotide variant not provided [RCV003673941] Chr11:679719 [GRCh38]
Chr11:679719 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.1503+15A>C single nucleotide variant not provided [RCV003814408] Chr11:674521 [GRCh38]
Chr11:674521 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.805-12T>C single nucleotide variant not provided [RCV003817143] Chr11:684975 [GRCh38]
Chr11:684975 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.348G>A (p.Thr116=) single nucleotide variant not provided [RCV003726061] Chr11:691540 [GRCh38]
Chr11:691540 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.518-9C>T single nucleotide variant not provided [RCV003560657] Chr11:688066 [GRCh38]
Chr11:688066 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.927G>T (p.Leu309=) single nucleotide variant not provided [RCV003855981] Chr11:681033 [GRCh38]
Chr11:681033 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.1355G>A (p.Ser452Asn) single nucleotide variant not provided [RCV003664187] Chr11:674684 [GRCh38]
Chr11:674684 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.804+10del deletion not provided [RCV003557899] Chr11:686848 [GRCh38]
Chr11:686848 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.1368A>G (p.Leu456=) single nucleotide variant not provided [RCV003817365] Chr11:674671 [GRCh38]
Chr11:674671 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.998-18G>A single nucleotide variant not provided [RCV003697932] Chr11:679834 [GRCh38]
Chr11:679834 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.1203C>T (p.Cys401=) single nucleotide variant not provided [RCV003548644] Chr11:678746 [GRCh38]
Chr11:678746 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.564T>C (p.Gly188=) single nucleotide variant not provided [RCV003668210] Chr11:688011 [GRCh38]
Chr11:688011 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.1348C>A (p.Pro450Thr) single nucleotide variant not provided [RCV003725469] Chr11:674691 [GRCh38]
Chr11:674691 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.603T>C (p.Ser201=) single nucleotide variant not provided [RCV003671247] Chr11:687972 [GRCh38]
Chr11:687972 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.1105G>A (p.Asp369Asn) single nucleotide variant not provided [RCV003667720] Chr11:679709 [GRCh38]
Chr11:679709 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.1565A>G (p.Asn522Ser) single nucleotide variant not provided [RCV003664435] Chr11:653990 [GRCh38]
Chr11:653990 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.499del (p.Ala167fs) deletion not provided [RCV003723748] Chr11:688349 [GRCh38]
Chr11:688349 [GRCh37]
Chr11:11p15.5		 pathogenic
NM_021008.4(DEAF1):c.517+13C>T single nucleotide variant not provided [RCV003668614] Chr11:688318 [GRCh38]
Chr11:688318 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.399G>T (p.Thr133=) single nucleotide variant not provided [RCV003704554] Chr11:688449 [GRCh38]
Chr11:688449 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.1130A>G (p.Gln377Arg) single nucleotide variant not provided [RCV003859608] Chr11:678819 [GRCh38]
Chr11:678819 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.1010C>A (p.Pro337His) single nucleotide variant not provided [RCV003821857] Chr11:679804 [GRCh38]
Chr11:679804 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.952T>G (p.Ser318Ala) single nucleotide variant Inborn genetic diseases [RCV004369521]|not provided [RCV003862716] Chr11:681008 [GRCh38]
Chr11:681008 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.469A>G (p.Ile157Val) single nucleotide variant not provided [RCV003711275] Chr11:688379 [GRCh38]
Chr11:688379 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.623G>A (p.Arg208Gln) single nucleotide variant not provided [RCV003551677] Chr11:687952 [GRCh38]
Chr11:687952 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.451G>A (p.Val151Ile) single nucleotide variant not provided [RCV003677129] Chr11:688397 [GRCh38]
Chr11:688397 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.781del (p.Arg261fs) deletion not provided [RCV003567631] Chr11:686881 [GRCh38]
Chr11:686881 [GRCh37]
Chr11:11p15.5		 pathogenic
NM_021008.4(DEAF1):c.997+1G>C single nucleotide variant not provided [RCV003682183] Chr11:680962 [GRCh38]
Chr11:680962 [GRCh37]
Chr11:11p15.5		 likely pathogenic
NM_021008.4(DEAF1):c.750G>A (p.Lys250=) single nucleotide variant not provided [RCV003711583] Chr11:686912 [GRCh38]
Chr11:686912 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.1504-3C>T single nucleotide variant not provided [RCV003858967] Chr11:654054 [GRCh38]
Chr11:654054 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.327T>G (p.Ala109=) single nucleotide variant not provided [RCV003563014] Chr11:691561 [GRCh38]
Chr11:691561 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.166_167delinsAT (p.Ala56Met) indel not provided [RCV003677487] Chr11:694881..694882 [GRCh38]
Chr11:694881..694882 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.240C>T (p.Ala80=) single nucleotide variant not provided [RCV003872438] Chr11:694808 [GRCh38]
Chr11:694808 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.1574C>T (p.Ser525Phe) single nucleotide variant not provided [RCV003564630] Chr11:653981 [GRCh38]
Chr11:653981 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.1382A>C (p.Asn461Thr) single nucleotide variant not provided [RCV003737213] Chr11:674657 [GRCh38]
Chr11:674657 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.997+19A>C single nucleotide variant not provided [RCV003685596] Chr11:680944 [GRCh38]
Chr11:680944 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.870+5G>A single nucleotide variant not provided [RCV003711943] Chr11:684893 [GRCh38]
Chr11:684893 [GRCh37]
Chr11:11p15.5		 pathogenic
NM_021008.4(DEAF1):c.1594-11C>T single nucleotide variant not provided [RCV003722597] Chr11:644665 [GRCh38]
Chr11:644665 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.609G>A (p.Leu203=) single nucleotide variant not provided [RCV003853780] Chr11:687966 [GRCh38]
Chr11:687966 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.1503+5C>T single nucleotide variant not provided [RCV003728707] Chr11:674531 [GRCh38]
Chr11:674531 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.753C>T (p.Asp251=) single nucleotide variant not provided [RCV003556719] Chr11:686909 [GRCh38]
Chr11:686909 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.940G>A (p.Val314Met) single nucleotide variant not provided [RCV003551091] Chr11:681020 [GRCh38]
Chr11:681020 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.804+13A>G single nucleotide variant not provided [RCV003711176] Chr11:686845 [GRCh38]
Chr11:686845 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.392G>C (p.Gly131Ala) single nucleotide variant not provided [RCV003718999] Chr11:688456 [GRCh38]
Chr11:688456 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.571A>G (p.Lys191Glu) single nucleotide variant not provided [RCV003704585] Chr11:688004 [GRCh38]
Chr11:688004 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.1616T>C (p.Ile539Thr) single nucleotide variant not provided [RCV003684744] Chr11:644632 [GRCh38]
Chr11:644632 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.1220C>A (p.Pro407Gln) single nucleotide variant not provided [RCV003551397] Chr11:678729 [GRCh38]
Chr11:678729 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.1443C>T (p.Ser481=) single nucleotide variant not provided [RCV003557195] Chr11:674596 [GRCh38]
Chr11:674596 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.616C>T (p.Arg206Trp) single nucleotide variant not provided [RCV003869478] Chr11:687959 [GRCh38]
Chr11:687959 [GRCh37]
Chr11:11p15.5		 uncertain significance
GRCh37/hg19 11p15.5(chr11:666123-692432)x1 copy number loss not specified [RCV003986940] Chr11:666123..692432 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.1143G>T (p.Val381=) single nucleotide variant not provided [RCV003555386] Chr11:678806 [GRCh38]
Chr11:678806 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.1289C>G (p.Pro430Arg) single nucleotide variant not provided [RCV003733036] Chr11:674750 [GRCh38]
Chr11:674750 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.306A>C (p.Thr102=) single nucleotide variant not provided [RCV003721437] Chr11:691582 [GRCh38]
Chr11:691582 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.696G>A (p.Glu232=) single nucleotide variant not provided [RCV003859736] Chr11:686966 [GRCh38]
Chr11:686966 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.668G>A (p.Gly223Asp) single nucleotide variant not provided [RCV003721212] Chr11:686994 [GRCh38]
Chr11:686994 [GRCh37]
Chr11:11p15.5		 uncertain significance
GRCh37/hg19 11p15.5(chr11:372929-762338)x3 copy number gain not specified [RCV003986922] Chr11:372929..762338 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.1002C>G (p.Thr334=) single nucleotide variant not provided [RCV003712056] Chr11:679812 [GRCh38]
Chr11:679812 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.102A>G (p.Gly34=) single nucleotide variant not provided [RCV003737629] Chr11:694946 [GRCh38]
Chr11:694946 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.998-4C>T single nucleotide variant not provided [RCV003550789] Chr11:679820 [GRCh38]
Chr11:679820 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.117G>T (p.Glu39Asp) single nucleotide variant not provided [RCV003733872] Chr11:694931 [GRCh38]
Chr11:694931 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.1287A>C (p.Pro429=) single nucleotide variant not provided [RCV003556550] Chr11:674752 [GRCh38]
Chr11:674752 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.1094C>T (p.Pro365Leu) single nucleotide variant not provided [RCV003722451] Chr11:679720 [GRCh38]
Chr11:679720 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.1504C>A (p.Gln502Lys) single nucleotide variant not provided [RCV003683657] Chr11:654051 [GRCh38]
Chr11:654051 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.835T>C (p.Cys279Arg) single nucleotide variant not provided [RCV003677912] Chr11:684933 [GRCh38]
Chr11:684933 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.659G>A (p.Gly220Asp) single nucleotide variant not provided [RCV003566993] Chr11:687916 [GRCh38]
Chr11:687916 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.87C>G (p.Ala29=) single nucleotide variant not provided [RCV003844401] Chr11:694961 [GRCh38]
Chr11:694961 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.970T>C (p.Leu324=) single nucleotide variant not provided [RCV003734998] Chr11:680990 [GRCh38]
Chr11:680990 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.1563C>T (p.Val521=) single nucleotide variant not provided [RCV003682516] Chr11:653992 [GRCh38]
Chr11:653992 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.339C>T (p.Val113=) single nucleotide variant not provided [RCV003553397] Chr11:691549 [GRCh38]
Chr11:691549 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.870+12G>A single nucleotide variant not provided [RCV003712101] Chr11:684886 [GRCh38]
Chr11:684886 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.1125A>G (p.Thr375=) single nucleotide variant not provided [RCV003565832] Chr11:679689 [GRCh38]
Chr11:679689 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.91_92insTGGCGG (p.Ala30_Ala31insValAla) insertion not provided [RCV003844400] Chr11:694956..694957 [GRCh38]
Chr11:694956..694957 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.664+5G>C single nucleotide variant not provided [RCV003735851] Chr11:687906 [GRCh38]
Chr11:687906 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.98_99insCGCGCC (p.Ala33_Gly34insAlaPro) insertion not provided [RCV003848075] Chr11:694949..694950 [GRCh38]
Chr11:694949..694950 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.290-16G>A single nucleotide variant not provided [RCV003678414] Chr11:691614 [GRCh38]
Chr11:691614 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.517+18_517+19delinsGT indel not provided [RCV003704239] Chr11:688312..688313 [GRCh38]
Chr11:688312..688313 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.737G>A (p.Arg246Lys) single nucleotide variant not provided [RCV003677447] Chr11:686925 [GRCh38]
Chr11:686925 [GRCh37]
Chr11:11p15.5		 likely pathogenic
NM_021008.4(DEAF1):c.773A>G (p.Tyr258Cys) single nucleotide variant not provided [RCV003563995] Chr11:686889 [GRCh38]
Chr11:686889 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.805-16T>C single nucleotide variant not provided [RCV003680622] Chr11:684979 [GRCh38]
Chr11:684979 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.1321T>C (p.Leu441=) single nucleotide variant not provided [RCV003866583] Chr11:674718 [GRCh38]
Chr11:674718 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.1593+8del deletion not provided [RCV003731517] Chr11:653954 [GRCh38]
Chr11:653954 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.1145A>G (p.Gln382Arg) single nucleotide variant DEAF1-related condition [RCV003898914] Chr11:678804 [GRCh38]
Chr11:678804 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.375A>C (p.Ser125=) single nucleotide variant not provided [RCV003993016] Chr11:691513 [GRCh38]
Chr11:691513 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.81G>A (p.Ala27=) single nucleotide variant DEAF1-related condition [RCV003936881] Chr11:694967 [GRCh38]
Chr11:694967 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.95_100del (p.Ala32_Ala33del) deletion DEAF1-related condition [RCV003964041] Chr11:694948..694953 [GRCh38]
Chr11:694948..694953 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.658G>T (p.Gly220Cys) single nucleotide variant not provided [RCV003886938] Chr11:687917 [GRCh38]
Chr11:687917 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.78G>A (p.Ala26=) single nucleotide variant DEAF1-related condition [RCV003927272] Chr11:694970 [GRCh38]
Chr11:694970 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021008.4(DEAF1):c.1210G>T (p.Ala404Ser) single nucleotide variant not specified [RCV003988305] Chr11:678739 [GRCh38]
Chr11:678739 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_001042463.3(TMEM80):c.299T>A (p.Leu100His) single nucleotide variant not specified [RCV004470493] Chr11:703017 [GRCh38]
Chr11:703017 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_001042463.3(TMEM80):c.361G>A (p.Ala121Thr) single nucleotide variant not specified [RCV004470494] Chr11:703079 [GRCh38]
Chr11:703079 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.1468C>T (p.Gln490Ter) single nucleotide variant Intellectual disability-epilepsy-extrapyramidal syndrome [RCV003340860] Chr11:674571 [GRCh38]
Chr11:674571 [GRCh37]
Chr11:11p15.5		 likely pathogenic
NM_021008.4(DEAF1):c.1315C>G (p.Pro439Ala) single nucleotide variant not provided [RCV003154537] Chr11:674724 [GRCh38]
Chr11:674724 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.1210G>A (p.Ala404Thr) single nucleotide variant not provided [RCV003146029] Chr11:678739 [GRCh38]
Chr11:678739 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021008.4(DEAF1):c.1642G>C (p.Val548Leu) single nucleotide variant not provided [RCV003146034] Chr11:644606 [GRCh38]
Chr11:644606 [GRCh37]
Chr11:11p15.5		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3425
Count of miRNA genes:996
Interacting mature miRNAs:1215
Transcripts:ENST00000338675, ENST00000382409, ENST00000524786, ENST00000525626, ENST00000525904, ENST00000526790, ENST00000526857, ENST00000527170, ENST00000527658, ENST00000528864, ENST00000529717, ENST00000529727, ENST00000530813
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
G62137  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711644,262 - 644,405UniSTSGRCh37
Build 3611634,262 - 634,405RGDNCBI36
Celera11712,153 - 712,296RGD
Cytogenetic Map11p15.5UniSTS
HuRef11460,979 - 461,122UniSTS
STS-D51166  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711644,261 - 644,499UniSTSGRCh37
Build 3611634,261 - 634,499RGDNCBI36
Celera11712,152 - 712,390RGD
Cytogenetic Map11p15.5UniSTS
HuRef11460,978 - 461,216UniSTS
GeneMap99-GB4 RH Map1118.88UniSTS
DEAF1_9129  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711644,029 - 644,648UniSTSGRCh37
Build 3611634,029 - 634,648RGDNCBI36
Celera11711,920 - 712,539RGD
HuRef11460,746 - 461,365UniSTS
SHGC-31847  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711644,244 - 644,348UniSTSGRCh37
Build 3611634,244 - 634,348RGDNCBI36
Celera11712,135 - 712,239RGD
Cytogenetic Map11p15.5UniSTS
HuRef11460,961 - 461,065UniSTS
Stanford-G3 RH Map1113.0UniSTS
Whitehead-RH Map117.8UniSTS
GeneMap99-G3 RH Map1113.0UniSTS
RH12540  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711644,271 - 644,450UniSTSGRCh37
Build 3611634,271 - 634,450RGDNCBI36
Celera11712,162 - 712,341RGD
Cytogenetic Map11p15.5UniSTS
HuRef11460,988 - 461,167UniSTS
GeneMap99-GB4 RH Map1122.52UniSTS
NCBI RH Map1110.0UniSTS
D11S2273E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711644,249 - 644,439UniSTSGRCh37
Build 3611634,249 - 634,439RGDNCBI36
Celera11712,140 - 712,330RGD
Cytogenetic Map11p15.5UniSTS
HuRef11460,966 - 461,156UniSTS
GeneMap99-GB4 RH Map1122.52UniSTS
NCBI RH Map1110.0UniSTS


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 2134 1423 1349 232 1133 97 3681 1187 3662 356 1432 1527 147 1024 2185 3
Low 301 1564 375 391 813 368 675 1007 64 63 26 83 25 180 603 2 1
Below cutoff 2 3 1 1 3 1 4 1 2 2 1 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_034156 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001293634 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001367390 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_021008 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011519842 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024448325 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024448326 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024448327 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047426248 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047426249 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047426250 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047426251 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054367462 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054367463 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054367464 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054367465 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054367466 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_007062436 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_007062437 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008488326 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008488327 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB209831 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC131934 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC138374 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF007165 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF049459 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF049460 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF068892 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF068893 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF068894 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF068895 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF068896 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF068897 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK289873 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK291383 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP006284 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP006621 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC042135 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC053322 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI463261 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM696110 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ267366 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471158 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068267 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FJ985253 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HY094363 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HY324291 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000382409   ⟹   ENSP00000371846
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11644,233 - 695,222 (-)Ensembl
RefSeq Acc Id: ENST00000524786
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11687,912 - 692,350 (-)Ensembl
RefSeq Acc Id: ENST00000525626
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11644,244 - 692,717 (-)Ensembl
RefSeq Acc Id: ENST00000525904
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11653,941 - 681,045 (-)Ensembl
RefSeq Acc Id: ENST00000526790
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11674,372 - 678,779 (-)Ensembl
RefSeq Acc Id: ENST00000526857
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11697,486 - 706,624 (-)Ensembl
RefSeq Acc Id: ENST00000527170   ⟹   ENSP00000431563
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11644,233 - 687,936 (-)Ensembl
RefSeq Acc Id: ENST00000527658
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11644,234 - 646,596 (-)Ensembl
RefSeq Acc Id: ENST00000528864
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11644,244 - 693,663 (-)Ensembl
RefSeq Acc Id: ENST00000529717   ⟹   ENSP00000432518
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11686,921 - 694,931 (-)Ensembl
RefSeq Acc Id: ENST00000529727
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11689,663 - 691,597 (-)Ensembl
RefSeq Acc Id: ENST00000530813
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11653,962 - 694,917 (-)Ensembl
RefSeq Acc Id: ENST00000682936
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11644,244 - 691,647 (-)Ensembl
RefSeq Acc Id: ENST00000683307   ⟹   ENSP00000507198
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11644,239 - 707,118 (-)Ensembl
RefSeq Acc Id: ENST00000684249
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11683,576 - 693,028 (-)Ensembl
RefSeq Acc Id: ENST00000685854   ⟹   ENSP00000508801
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11644,234 - 695,041 (-)Ensembl
RefSeq Acc Id: ENST00000686001   ⟹   ENSP00000508459
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11644,295 - 695,041 (-)Ensembl
RefSeq Acc Id: ENST00000687329   ⟹   ENSP00000510598
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11644,273 - 695,041 (-)Ensembl
RefSeq Acc Id: ENST00000689835   ⟹   ENSP00000510621
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11648,412 - 695,041 (-)Ensembl
RefSeq Acc Id: ENST00000690068   ⟹   ENSP00000509089
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11644,247 - 695,041 (-)Ensembl
RefSeq Acc Id: ENST00000692634   ⟹   ENSP00000508859
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11644,247 - 695,041 (-)Ensembl
RefSeq Acc Id: ENST00000693164
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11679,882 - 695,041 (-)Ensembl
RefSeq Acc Id: NM_001293634   ⟹   NP_001280563
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811644,220 - 695,754 (-)NCBI
CHM1_111643,446 - 694,676 (-)NCBI
T2T-CHM13v2.011694,847 - 746,621 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001367390   ⟹   NP_001354319
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811644,233 - 707,083 (-)NCBI
T2T-CHM13v2.011694,860 - 758,083 (-)NCBI
Sequence:
RefSeq Acc Id: NM_021008   ⟹   NP_066288
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811644,233 - 695,222 (-)NCBI
GRCh3711644,225 - 695,740 (-)ENTREZGENE
GRCh3711644,225 - 695,740 (-)NCBI
Build 3611634,225 - 685,740 (-)NCBI Archive
HuRef11460,942 - 512,153 (-)ENTREZGENE
CHM1_111643,446 - 694,676 (-)NCBI
T2T-CHM13v2.011694,860 - 746,089 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011519842   ⟹   XP_011518144
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811651,454 - 695,222 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047426248   ⟹   XP_047282204
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811651,167 - 695,222 (-)NCBI
RefSeq Acc Id: XM_047426249   ⟹   XP_047282205
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811646,332 - 695,222 (-)NCBI
RefSeq Acc Id: XM_047426250   ⟹   XP_047282206
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811651,454 - 694,991 (-)NCBI
RefSeq Acc Id: XM_047426251   ⟹   XP_047282207
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811644,233 - 693,775 (-)NCBI
RefSeq Acc Id: XM_054367462   ⟹   XP_054223437
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.011701,760 - 746,089 (-)NCBI
RefSeq Acc Id: XM_054367463   ⟹   XP_054223438
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.011701,760 - 746,089 (-)NCBI
RefSeq Acc Id: XM_054367464   ⟹   XP_054223439
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.011696,959 - 746,089 (-)NCBI
RefSeq Acc Id: XM_054367465   ⟹   XP_054223440
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.011701,760 - 745,858 (-)NCBI
RefSeq Acc Id: XM_054367466   ⟹   XP_054223441
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.011694,860 - 744,642 (-)NCBI
RefSeq Acc Id: XR_007062436
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811653,972 - 695,222 (-)NCBI
RefSeq Acc Id: XR_007062437
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811653,975 - 706,801 (-)NCBI
RefSeq Acc Id: XR_008488326
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.011704,564 - 746,089 (-)NCBI
RefSeq Acc Id: XR_008488327
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.011704,567 - 757,801 (-)NCBI
Protein Sequences
Protein RefSeqs NP_001280563 (Get FASTA)   NCBI Sequence Viewer  
  NP_001354319 (Get FASTA)   NCBI Sequence Viewer  
  NP_066288 (Get FASTA)   NCBI Sequence Viewer  
  XP_011518144 (Get FASTA)   NCBI Sequence Viewer  
  XP_047282204 (Get FASTA)   NCBI Sequence Viewer  
  XP_047282205 (Get FASTA)   NCBI Sequence Viewer  
  XP_047282206 (Get FASTA)   NCBI Sequence Viewer  
  XP_047282207 (Get FASTA)   NCBI Sequence Viewer  
  XP_054223437 (Get FASTA)   NCBI Sequence Viewer  
  XP_054223438 (Get FASTA)   NCBI Sequence Viewer  
  XP_054223439 (Get FASTA)   NCBI Sequence Viewer  
  XP_054223440 (Get FASTA)   NCBI Sequence Viewer  
  XP_054223441 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAB62704 (Get FASTA)   NCBI Sequence Viewer  
  AAC25714 (Get FASTA)   NCBI Sequence Viewer  
  AAC25715 (Get FASTA)   NCBI Sequence Viewer  
  AAC25716 (Get FASTA)   NCBI Sequence Viewer  
  AAC25717 (Get FASTA)   NCBI Sequence Viewer  
  AAC25718 (Get FASTA)   NCBI Sequence Viewer  
  AAC25719 (Get FASTA)   NCBI Sequence Viewer  
  AAC79676 (Get FASTA)   NCBI Sequence Viewer  
  AAC79677 (Get FASTA)   NCBI Sequence Viewer  
  AAH53322 (Get FASTA)   NCBI Sequence Viewer  
  ACU88060 (Get FASTA)   NCBI Sequence Viewer  
  BAD93068 (Get FASTA)   NCBI Sequence Viewer  
  BAF82562 (Get FASTA)   NCBI Sequence Viewer  
  BAF84072 (Get FASTA)   NCBI Sequence Viewer  
  EAX02370 (Get FASTA)   NCBI Sequence Viewer  
  EAX02371 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000371846
  ENSP00000371846.3
  ENSP00000431563.1
  ENSP00000432518.2
  ENSP00000487909.1
  ENSP00000488285.1
  ENSP00000488313.1
  ENSP00000507198
  ENSP00000507198.1
  ENSP00000508459.1
  ENSP00000508507.1
  ENSP00000508801.1
  ENSP00000508859.1
  ENSP00000509089.1
  ENSP00000510598.1
  ENSP00000510621
  ENSP00000510621.1
GenBank Protein O75398 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_066288   ⟸   NM_021008
- Peptide Label: isoform a
- UniProtKB: Q9UET1 (UniProtKB/Swiss-Prot),   O75398 (UniProtKB/Swiss-Prot),   O75513 (UniProtKB/Swiss-Prot),   O75512 (UniProtKB/Swiss-Prot),   O75511 (UniProtKB/Swiss-Prot),   O75510 (UniProtKB/Swiss-Prot),   O75399 (UniProtKB/Swiss-Prot),   O15152 (UniProtKB/Swiss-Prot),   C7T5V5 (UniProtKB/Swiss-Prot),   A8K5R8 (UniProtKB/Swiss-Prot),   A8K1F8 (UniProtKB/Swiss-Prot),   A0A8I5KZ80 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001280563   ⟸   NM_001293634
- Peptide Label: isoform b
- UniProtKB: O75398 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011518144   ⟸   XM_011519842
- Peptide Label: isoform X2
- UniProtKB: A0A8I5KZ80 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001354319   ⟸   NM_001367390
- Peptide Label: isoform c
- UniProtKB: A0A804HIS1 (UniProtKB/TrEMBL),   Q59EI0 (UniProtKB/TrEMBL)
RefSeq Acc Id: ENSP00000431563   ⟸   ENST00000527170
RefSeq Acc Id: ENSP00000371846   ⟸   ENST00000382409
RefSeq Acc Id: ENSP00000432518   ⟸   ENST00000529717
RefSeq Acc Id: ENSP00000507198   ⟸   ENST00000683307
RefSeq Acc Id: ENSP00000508459   ⟸   ENST00000686001
RefSeq Acc Id: ENSP00000509089   ⟸   ENST00000690068
RefSeq Acc Id: ENSP00000510598   ⟸   ENST00000687329
RefSeq Acc Id: ENSP00000510621   ⟸   ENST00000689835
RefSeq Acc Id: ENSP00000508801   ⟸   ENST00000685854
RefSeq Acc Id: ENSP00000508859   ⟸   ENST00000692634
RefSeq Acc Id: XP_047282207   ⟸   XM_047426251
- Peptide Label: isoform X5
- UniProtKB: A0A804HIS1 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047282205   ⟸   XM_047426249
- Peptide Label: isoform X3
RefSeq Acc Id: XP_047282204   ⟸   XM_047426248
- Peptide Label: isoform X1
RefSeq Acc Id: XP_047282206   ⟸   XM_047426250
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054223441   ⟸   XM_054367466
- Peptide Label: isoform X5
- UniProtKB: A0A804HIS1 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054223439   ⟸   XM_054367464
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054223437   ⟸   XM_054367462
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054223438   ⟸   XM_054367463
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054223440   ⟸   XM_054367465
- Peptide Label: isoform X4
Protein Domains
MYND-type   SAND

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-O75398-F1-model_v2 AlphaFold O75398 1-565 view protein structure

Promoters
RGD ID:6809978
Promoter ID:HG_ACW:10471
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:DEAF1.QAPR07
Position:
Human AssemblyChrPosition (strand)Source
Build 3611680,996 - 681,496 (-)MPROMDB
RGD ID:6788677
Promoter ID:HG_KWN:11850
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:ENST00000338675,   ENST00000359958,   ENST00000388804,   NM_021008
Position:
Human AssemblyChrPosition (strand)Source
Build 3611684,846 - 686,082 (-)MPROMDB
RGD ID:7219193
Promoter ID:EPDNEW_H15341
Type:initiation region
Name:DEAF1_3
Description:DEAF1, transcription factor
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H15346  EPDNEW_H15347  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811695,594 - 695,654EPDNEW
RGD ID:7219201
Promoter ID:EPDNEW_H15346
Type:initiation region
Name:DEAF1_2
Description:DEAF1, transcription factor
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H15341  EPDNEW_H15347  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811706,715 - 706,775EPDNEW
RGD ID:7219203
Promoter ID:EPDNEW_H15347
Type:initiation region
Name:DEAF1_1
Description:DEAF1, transcription factor
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H15341  EPDNEW_H15346  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811706,964 - 707,024EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:14677 AgrOrtholog
COSMIC DEAF1 COSMIC
Ensembl Genes ENSG00000177030 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENSG00000282712 UniProtKB/TrEMBL
Ensembl Transcript ENST00000382409 ENTREZGENE
  ENST00000382409.4 UniProtKB/Swiss-Prot
  ENST00000527170.5 UniProtKB/TrEMBL
  ENST00000528864 ENTREZGENE
  ENST00000529717.6 UniProtKB/TrEMBL
  ENST00000530813.2 UniProtKB/TrEMBL
  ENST00000632113.1 UniProtKB/TrEMBL
  ENST00000634067.1 UniProtKB/TrEMBL
  ENST00000634194.1 UniProtKB/TrEMBL
  ENST00000683307 ENTREZGENE
  ENST00000683307.1 UniProtKB/TrEMBL
  ENST00000685854.1 UniProtKB/TrEMBL
  ENST00000686001.1 UniProtKB/TrEMBL
  ENST00000687329.1 UniProtKB/TrEMBL
  ENST00000689835 ENTREZGENE
  ENST00000689835.1 UniProtKB/TrEMBL
  ENST00000690068.1 UniProtKB/TrEMBL
  ENST00000692634.1 UniProtKB/TrEMBL
Gene3D-CATH 3.10.390.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  6.10.140.2220 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  6.10.140.840 UniProtKB/TrEMBL
GTEx ENSG00000177030 GTEx
  ENSG00000282712 GTEx
HGNC ID HGNC:14677 ENTREZGENE
Human Proteome Map DEAF1 Human Proteome Map
InterPro SAND-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SAND_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_MYND UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:10522 UniProtKB/Swiss-Prot
NCBI Gene 10522 ENTREZGENE
OMIM 602635 OMIM
PANTHER DEFORMED EPIDERMAL AUTOREGULATORY FACTOR 1 HOMOLOG UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GLUCOCORTICOID MODULATORY ELEMENT-BINDING PROTEIN UniProtKB/TrEMBL
  PTHR10237 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SP140 NUCLEAR BODY PROTEIN UniProtKB/TrEMBL
Pfam SAND UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  zf-MYND UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA27234 PharmGKB
PROSITE SAND UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ZF_MYND_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ZF_MYND_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART SAND UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP HIT/MYND zinc finger-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF63763 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A0J9YWD6_HUMAN UniProtKB/TrEMBL
  A0A0J9YX80_HUMAN UniProtKB/TrEMBL
  A0A0J9YXA4_HUMAN UniProtKB/TrEMBL
  A0A804HIS1 ENTREZGENE, UniProtKB/TrEMBL
  A0A8I5KQJ8_HUMAN UniProtKB/TrEMBL
  A0A8I5KQY1_HUMAN UniProtKB/TrEMBL
  A0A8I5KR93_HUMAN UniProtKB/TrEMBL
  A0A8I5KUA2_HUMAN UniProtKB/TrEMBL
  A0A8I5KZ80 ENTREZGENE, UniProtKB/TrEMBL
  A0A8I5QJC6_HUMAN UniProtKB/TrEMBL
  A0A8I5QL28_HUMAN UniProtKB/TrEMBL
  A8K1F8 ENTREZGENE
  A8K5R8 ENTREZGENE
  C7T5V5 ENTREZGENE
  DEAF1_HUMAN UniProtKB/Swiss-Prot
  H0YCH1_HUMAN UniProtKB/TrEMBL
  H0YCY2_HUMAN UniProtKB/TrEMBL
  O15152 ENTREZGENE
  O75398 ENTREZGENE
  O75399 ENTREZGENE
  O75510 ENTREZGENE
  O75511 ENTREZGENE
  O75512 ENTREZGENE
  O75513 ENTREZGENE
  Q59EI0 ENTREZGENE, UniProtKB/TrEMBL
  Q9UET1 ENTREZGENE
UniProt Secondary A8K1F8 UniProtKB/Swiss-Prot
  A8K5R8 UniProtKB/Swiss-Prot
  C7T5V5 UniProtKB/Swiss-Prot
  O15152 UniProtKB/Swiss-Prot
  O75399 UniProtKB/Swiss-Prot
  O75510 UniProtKB/Swiss-Prot
  O75511 UniProtKB/Swiss-Prot
  O75512 UniProtKB/Swiss-Prot
  O75513 UniProtKB/Swiss-Prot
  Q9UET1 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2018-08-21 DEAF1  DEAF1 transcription factor    DEAF1, transcription factor  Symbol and/or name change 5135510 APPROVED
2015-12-01 DEAF1  DEAF1, transcription factor    DEAF1 transcription factor  Symbol and/or name change 5135510 APPROVED
2013-01-16 DEAF1  DEAF1 transcription factor    deformed epidermal autoregulatory factor 1 (Drosophila)  Symbol and/or name change 5135510 APPROVED