DOCK8-AS1 (DOCK8 antisense RNA 1) - Rat Genome Database

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Gene: DOCK8-AS1 (DOCK8 antisense RNA 1) Homo sapiens
Analyze
Symbol: DOCK8-AS1
Name: DOCK8 antisense RNA 1
RGD ID: 1347775
HGNC Page HGNC
Description: ASSOCIATED WITH genetic disease; hyper IgE syndrome; schizophrenia; INTERACTS WITH aflatoxin B1; cisplatin; coumestrol
Type: ncrna
RefSeq Status: VALIDATED
Also known as: C9orf66; chromosome 9 open reading frame 66; FLJ31158; hypothetical protein LOC157983; RP11-59O6.1; uncharacterized protein C9orf66
RGD Orthologs
Rat
Chinchilla
Pig
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl9212,824 - 215,893 (-)EnsemblGRCh38hg38GRCh38
GRCh389213,457 - 215,750 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh379213,457 - 215,750 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 369203,462 - 205,741 (-)NCBINCBI36hg18NCBI36
Build 349203,461 - 205,741NCBI
Celera9127,940 - 130,725 (-)NCBI
Cytogenetic Map9p24.3NCBI
HuRef9166,852 - 169,637 (-)NCBIHuRef
CHM1_19213,562 - 216,347 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

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

Human Phenotype
Schizophrenia  (IAGP)
References

Additional References at PubMed
PMID:12477932   PMID:14702039   PMID:15164053   PMID:18976975  


Genomics

Comparative Map Data
DOCK8-AS1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl9212,824 - 215,893 (-)EnsemblGRCh38hg38GRCh38
GRCh389213,457 - 215,750 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh379213,457 - 215,750 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 369203,462 - 205,741 (-)NCBINCBI36hg18NCBI36
Build 349203,461 - 205,741NCBI
Celera9127,940 - 130,725 (-)NCBI
Cytogenetic Map9p24.3NCBI
HuRef9166,852 - 169,637 (-)NCBIHuRef
CHM1_19213,562 - 216,347 (-)NCBICHM1_1
C1H9orf66
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Rnor_6.01242,958,912 - 242,961,750 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Cytogenetic Map1q51NCBI
Dock8-as1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_0049554344,806,409 - 4,820,650 (-)NCBIChiLan1.0ChiLan1.0
DOCK8-AS1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.11221,491,735 - 221,492,831 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1

Position Markers
sY3084  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map21q22.12UniSTS
Cytogenetic Map15q13UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map6q22.33UniSTS
Cytogenetic Map1q12UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map7q11.2UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map11q14UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map18q22.1UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map2q33-q34UniSTS
Cytogenetic Map12q21.33UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map3q25UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map12p12.1UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map1q42.11UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map4q27UniSTS
Cytogenetic Map17q22.2UniSTS
Cytogenetic Map1q23.1UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic Map18q12.1-q21.1UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map14q22UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map12q21.1UniSTS
Cytogenetic Map1p35.3-p33UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map14q24UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map5q15UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map7p22UniSTS
Cytogenetic Map15q15-q21.1UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map18p11.3-p11.2UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map6p22.3-p22.1UniSTS
Cytogenetic Map10q22.3UniSTS
Cytogenetic Map1p36.11-p34.2UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic MapXq13.2UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map1q42.1-q43UniSTS
Cytogenetic Map7q31UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map9p24.1UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map17q24.1UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic Map11p15UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map6q27UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map13q13.3UniSTS
Cytogenetic Map18q23UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map19p13.1UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map15q13.3UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map1q25.3UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapXq21.3UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic MapXq12UniSTS
Cytogenetic Map20p11UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map1p36.22UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map4p16UniSTS
Cytogenetic Map6q16.1UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map18p11.22UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map9q31.3UniSTS
Cytogenetic Map1q22-q23UniSTS
Cytogenetic Map13q32.1UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map22q13.1-q13.2UniSTS
Cytogenetic Map7p15UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map5p15.33UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map18q21.32UniSTS
Cytogenetic Map15q26.2UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map5p13.2UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map8q13UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map1p22.2UniSTS
Cytogenetic Map2q12UniSTS
Cytogenetic Map3q21.1UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map14q32.1UniSTS
Cytogenetic Map1p33-p32UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map7p21.3UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map4q32UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map9p12UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map6q16.2UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map3q12.3UniSTS
UniSTS:486505  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379214,285 - 215,566UniSTSGRCh37
Celera9129,117 - 130,398UniSTS
HuRef9168,029 - 169,310UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:450
Count of miRNA genes:391
Interacting mature miRNAs:409
Transcripts:ENST00000382387
Prediction methods:Miranda, Rnahybrid
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.


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 adipose tissue appendage entire extraembryonic component
High
Medium 1 1 93 5 1
Low 823 636 1122 123 1174 112 680 660 152 260 770 1047 16 752 109 4
Below cutoff 1548 2034 557 459 717 314 3299 1312 2964 60 637 543 152 452 2346

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000382387
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9213,108 - 215,893 (-)Ensembl
RefSeq Acc Id: ENST00000648587
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9212,824 - 215,741 (-)Ensembl
RefSeq Acc Id: NR_160804
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389213,457 - 215,750 (-)NCBI
Protein Sequences
GenBank Protein AAI11424 (Get FASTA)   NCBI Sequence Viewer  
  BAB70995 (Get FASTA)   NCBI Sequence Viewer  
  Q5T8R8 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences


Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 9p24.3(chr9:207437-416351)x3 copy number gain See cases [RCV000133903] Chr9:207437..416351 [GRCh38]
Chr9:207437..416351 [GRCh37]
Chr9:197437..406351 [NCBI36]
Chr9:9p24.3
benign
GRCh38/hg38 9p24.3(chr9:204193-332515)x1 copy number loss See cases [RCV000050336] Chr9:204193..332515 [GRCh38]
Chr9:204193..332515 [GRCh37]
Chr9:194193..322515 [NCBI36]
Chr9:9p24.3
uncertain significance
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000050348] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p24.3-23(chr9:204193-13974100)x1 copy number loss See cases [RCV000050831] Chr9:204193..13974100 [GRCh38]
Chr9:204193..13974099 [GRCh37]
Chr9:194193..13964099 [NCBI36]
Chr9:9p24.3-23
pathogenic
GRCh38/hg38 9p24.3(chr9:204193-381489)x3 copy number gain See cases [RCV000050662] Chr9:204193..381489 [GRCh38]
Chr9:204193..381489 [GRCh37]
Chr9:194193..371489 [NCBI36]
Chr9:9p24.3
benign|uncertain significance|conflicting data from submitters
GRCh38/hg38 9p24.3(chr9:204193-381489)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050663]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050663]|See cases [RCV000050663] Chr9:204193..381489 [GRCh38]
Chr9:204193..381489 [GRCh37]
Chr9:9p24.3
uncertain significance
GRCh38/hg38 9p24.3(chr9:204193-1288113)x3 copy number gain See cases [RCV000050695] Chr9:204193..1288113 [GRCh38]
Chr9:204193..1288113 [GRCh37]
Chr9:194193..1278113 [NCBI36]
Chr9:9p24.3
uncertain significance
GRCh38/hg38 9p24.3(chr9:204193-1516367)x1 copy number loss See cases [RCV000050611] Chr9:204193..1516367 [GRCh38]
Chr9:204193..1516367 [GRCh37]
Chr9:194193..1506367 [NCBI36]
Chr9:9p24.3
uncertain significance
GRCh38/hg38 9p24.3(chr9:204193-266104)x3 copy number gain See cases [RCV000050728] Chr9:204193..266104 [GRCh38]
Chr9:204193..266104 [GRCh37]
Chr9:194193..256104 [NCBI36]
Chr9:9p24.3
uncertain significance
GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3 copy number gain See cases [RCV000050357] Chr9:204193..38815478 [GRCh38]
Chr9:204193..38815475 [GRCh37]
Chr9:194193..38805475 [NCBI36]
Chr9:9p24.3-13.1
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 9p24.3(chr9:204193-295405)x3 copy number gain See cases [RCV000050426] Chr9:204193..295405 [GRCh38]
Chr9:204193..295405 [GRCh37]
Chr9:194193..285405 [NCBI36]
Chr9:9p24.3
benign|uncertain significance|conflicting data from submitters
GRCh38/hg38 9p24.3-13.1(chr9:204193-38741440)x3 copy number gain See cases [RCV000051106] Chr9:204193..38741440 [GRCh38]
Chr9:204193..38741437 [GRCh37]
Chr9:194193..38731437 [NCBI36]
Chr9:9p24.3-13.1
pathogenic
GRCh38/hg38 9p24.3(chr9:52389-356138)x3 copy number gain See cases [RCV000052191] Chr9:52389..356138 [GRCh38]
Chr9:52389..356138 [GRCh37]
Chr9:42389..346138 [NCBI36]
Chr9:9p24.3
uncertain significance
GRCh38/hg38 9p24.3(chr9:146194-389294)x3 copy number gain See cases [RCV000052201] Chr9:146194..389294 [GRCh38]
Chr9:199707..389294 [GRCh37]
Chr9:136194..379294 [NCBI36]
Chr9:9p24.3
uncertain significance
GRCh38/hg38 9p24.3(chr9:195399-340142)x3 copy number gain See cases [RCV000052202] Chr9:195399..340142 [GRCh38]
Chr9:199707..340142 [GRCh37]
Chr9:167560..330142 [NCBI36]
Chr9:9p24.3
uncertain significance
GRCh38/hg38 9p24.3(chr9:203993-500725)x3 copy number gain See cases [RCV000052203] Chr9:203993..500725 [GRCh38]
Chr9:203993..500725 [GRCh37]
Chr9:193993..490725 [NCBI36]
Chr9:9p24.3
uncertain significance
GRCh38/hg38 9p24.3(chr9:204193-280314)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052204]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052204]|See cases [RCV000052204] Chr9:204193..280314 [GRCh38]
Chr9:204193..280314 [GRCh37]
Chr9:9p24.3
uncertain significance
GRCh38/hg38 9p24.3(chr9:204193-315028)x1 copy number loss See cases [RCV000052823] Chr9:204193..315028 [GRCh38]
Chr9:204193..315028 [GRCh37]
Chr9:194193..305028 [NCBI36]
Chr9:9p24.3
uncertain significance
GRCh38/hg38 9p24.3(chr9:211086-274576)x1 copy number loss See cases [RCV000052843] Chr9:211086..274576 [GRCh38]
Chr9:211086..274576 [GRCh37]
Chr9:201086..264576 [NCBI36]
Chr9:9p24.3
uncertain significance
GRCh38/hg38 9p24.3-23(chr9:211087-13754567)x1 copy number loss See cases [RCV000052856] Chr9:211087..13754567 [GRCh38]
Chr9:211087..13754566 [GRCh37]
Chr9:201087..13744566 [NCBI36]
Chr9:9p24.3-23
pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:203993-38815619)x3 copy number gain See cases [RCV000053703] Chr9:203993..38815619 [GRCh38]
Chr9:203993..38815616 [GRCh37]
Chr9:193993..38805616 [NCBI36]
Chr9:9p24.3-13.1
pathogenic
GRCh38/hg38 9p24.3-21.3(chr9:204193-22086858)x3 copy number gain See cases [RCV000053704] Chr9:204193..22086858 [GRCh38]
Chr9:204193..22086857 [GRCh37]
Chr9:194193..22076857 [NCBI36]
Chr9:9p24.3-21.3
pathogenic
GRCh38/hg38 9p24.3-24.2(chr9:204193-3468435)x3 copy number gain See cases [RCV000053705] Chr9:204193..3468435 [GRCh38]
Chr9:204193..3468435 [GRCh37]
Chr9:194193..3458435 [NCBI36]
Chr9:9p24.3-24.2
pathogenic
GRCh38/hg38 9p24.3-13.3(chr9:204193-34599437)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053706]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053706]|See cases [RCV000053706] Chr9:204193..34599437 [GRCh38]
Chr9:204193..34599435 [GRCh37]
Chr9:194193..34589435 [NCBI36]
Chr9:9p24.3-13.3
pathogenic
GRCh38/hg38 9p24.3-13.3(chr9:204193-33284638)x3 copy number gain See cases [RCV000053707] Chr9:204193..33284638 [GRCh38]
Chr9:204193..33284636 [GRCh37]
Chr9:194193..33274636 [NCBI36]
Chr9:9p24.3-13.3
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124532)x3 copy number gain See cases [RCV000053745] Chr9:193412..138124532 [GRCh38]
Chr9:204193..141018984 [GRCh37]
Chr9:194193..140138805 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p24.3(chr9:204193-229257)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053476]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053476]|See cases [RCV000053476] Chr9:204193..229257 [GRCh38]
Chr9:204193..229257 [GRCh37]
Chr9:194193..219257 [NCBI36]
Chr9:9p24.3
benign
GRCh38/hg38 9p24.3-24.2(chr9:203993-4164349)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054328]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054328]|See cases [RCV000054328] Chr9:203993..4164349 [GRCh38]
Chr9:203993..4164349 [GRCh37]
Chr9:193993..4154349 [NCBI36]
Chr9:9p24.3-24.2
pathogenic
GRCh38/hg38 9p24.3-23(chr9:204193-10340779)x1 copy number loss See cases [RCV000054331] Chr9:204193..10340779 [GRCh38]
Chr9:204193..10340779 [GRCh37]
Chr9:194193..10330779 [NCBI36]
Chr9:9p24.3-23
pathogenic
GRCh38/hg38 9p24.3-23(chr9:204193-12302772)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054332]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054332]|See cases [RCV000054332] Chr9:204193..12302772 [GRCh38]
Chr9:204193..12302772 [GRCh37]
Chr9:194193..12292772 [NCBI36]
Chr9:9p24.3-23
pathogenic
GRCh38/hg38 9p24.3-23(chr9:204193-13276053)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054334]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054334]|See cases [RCV000054334] Chr9:204193..13276053 [GRCh38]
Chr9:204193..13276052 [GRCh37]
Chr9:194193..13266052 [NCBI36]
Chr9:9p24.3-23
pathogenic
GRCh38/hg38 9p24.3-23(chr9:204193-9363321)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054336]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054336]|See cases [RCV000054336] Chr9:204193..9363321 [GRCh38]
Chr9:204193..9363321 [GRCh37]
Chr9:194193..9353321 [NCBI36]
Chr9:9p24.3-23
pathogenic
GRCh38/hg38 9p24.3-23(chr9:204193-13454719)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054338]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054338]|See cases [RCV000054338] Chr9:204193..13454719 [GRCh38]
Chr9:204193..13454718 [GRCh37]
Chr9:194193..13444718 [NCBI36]
Chr9:9p24.3-23
pathogenic
GRCh38/hg38 9p24.3-24.1(chr9:211086-6106482)x1 copy number loss See cases [RCV000054340] Chr9:211086..6106482 [GRCh38]
Chr9:211086..6106482 [GRCh37]
Chr9:201086..6096482 [NCBI36]
Chr9:9p24.3-24.1
pathogenic
GRCh38/hg38 9p24.3-23(chr9:211086-11867480)x1 copy number loss See cases [RCV000054341] Chr9:211086..11867480 [GRCh38]
Chr9:211086..11867480 [GRCh37]
Chr9:201086..11857480 [NCBI36]
Chr9:9p24.3-23
pathogenic
GRCh38/hg38 9p24.3-22.3(chr9:111216-14650762)x1 copy number loss See cases [RCV000054315] Chr9:111216..14650762 [GRCh38]
Chr9:111216..14650760 [GRCh37]
Chr9:101216..14640760 [NCBI36]
Chr9:9p24.3-22.3
pathogenic
GRCh38/hg38 9p24.3-23(chr9:195399-11081440)x1 copy number loss See cases [RCV000054316] Chr9:195399..11081440 [GRCh38]
Chr9:199707..11081440 [GRCh37]
Chr9:182102..11071440 [NCBI36]
Chr9:9p24.3-23
pathogenic
GRCh38/hg38 9p24.3-23(chr9:203993-13753101)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054317]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054317]|See cases [RCV000054317] Chr9:203993..13753101 [GRCh38]
Chr9:203993..13753100 [GRCh37]
Chr9:193993..13743100 [NCBI36]
Chr9:9p24.3-23
pathogenic
GRCh38/hg38 9p24.3-23(chr9:203993-12621562)x1 copy number loss See cases [RCV000054327] Chr9:203993..12621562 [GRCh38]
Chr9:203993..12621562 [GRCh37]
Chr9:193993..12611562 [NCBI36]
Chr9:9p24.3-23
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3 copy number gain See cases [RCV000053746] Chr9:193412..138114463 [GRCh38]
Chr9:214367..141008915 [GRCh37]
Chr9:204367..140128736 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
NM_203447.4(DOCK8):c.53+23C>T single nucleotide variant Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive [RCV001332035] Chr9:215052 [GRCh38]
Chr9:215052 [GRCh37]
Chr9:9p24.3
uncertain significance
GRCh38/hg38 9p24.3-q21.12(chr9:193412-70630731)x3 copy number gain See cases [RCV000136152] Chr9:193412..70630731 [GRCh38]
Chr9:220253..73245647 [GRCh37]
Chr9:210253..72435467 [NCBI36]
Chr9:9p24.3-q21.12
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445) copy number gain See cases [RCV000133791] Chr9:204193..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p24.3-23(chr9:204193-10473327)x1 copy number loss See cases [RCV000133873] Chr9:204193..10473327 [GRCh38]
Chr9:204193..10473327 [GRCh37]
Chr9:194193..10463327 [NCBI36]
Chr9:9p24.3-23
pathogenic
GRCh38/hg38 9p24.3-22.2(chr9:204193-18073359)x1 copy number loss See cases [RCV000133825] Chr9:204193..18073359 [GRCh38]
Chr9:204193..18073357 [GRCh37]
Chr9:194193..18063357 [NCBI36]
Chr9:9p24.3-22.2
pathogenic
GRCh38/hg38 9p24.3(chr9:204193-381489)x1 copy number loss See cases [RCV000050663] Chr9:204193..381489 [GRCh38]
Chr9:204193..381489 [GRCh37]
Chr9:194193..371489 [NCBI36]
Chr9:9p24.3
uncertain significance
GRCh38/hg38 9p24.3(chr9:204193-280314)x3 copy number gain See cases [RCV000052204] Chr9:204193..280314 [GRCh38]
Chr9:204193..280314 [GRCh37]
Chr9:194193..270314 [NCBI36]
Chr9:9p24.3
uncertain significance
GRCh38/hg38 9p24.3-23(chr9:204193-10164955)x1 copy number loss See cases [RCV000133728] Chr9:204193..10164955 [GRCh38]
Chr9:204193..10164955 [GRCh37]
Chr9:194193..10154955 [NCBI36]
Chr9:9p24.3-23
pathogenic
GRCh38/hg38 9p24.3(chr9:204090-280321)x3 copy number gain See cases [RCV000134712] Chr9:204090..280321 [GRCh38]
Chr9:204090..280321 [GRCh37]
Chr9:194090..270321 [NCBI36]
Chr9:9p24.3
benign
GRCh38/hg38 9p24.3(chr9:163131-271257)x3 copy number gain See cases [RCV000134376] Chr9:163131..271257 [GRCh38]
Chr9:163131..271257 [GRCh37]
Chr9:153131..261257 [NCBI36]
Chr9:9p24.3
benign
GRCh38/hg38 9p24.3-24.2(chr9:204193-4210335)x1 copy number loss See cases [RCV000134138] Chr9:204193..4210335 [GRCh38]
Chr9:204193..4210335 [GRCh37]
Chr9:194193..4200335 [NCBI36]
Chr9:9p24.3-24.2
pathogenic
GRCh38/hg38 9p24.3(chr9:204090-639077)x3 copy number gain See cases [RCV000133932] Chr9:204090..639077 [GRCh38]
Chr9:204090..639077 [GRCh37]
Chr9:194090..629077 [NCBI36]
Chr9:9p24.3
benign
GRCh38/hg38 9p24.3-23(chr9:204090-13146846)x1 copy number loss See cases [RCV000134126] Chr9:204090..13146846 [GRCh38]
Chr9:204090..13146845 [GRCh37]
Chr9:194090..13136845 [NCBI36]
Chr9:9p24.3-23
pathogenic
GRCh38/hg38 9p24.3-23(chr9:204193-11277770)x1 copy number loss See cases [RCV000133923] Chr9:204193..11277770 [GRCh38]
Chr9:204193..11277770 [GRCh37]
Chr9:194193..11267770 [NCBI36]
Chr9:9p24.3-23
pathogenic
GRCh38/hg38 9p24.3-q21.11(chr9:13997-68401065)x3 copy number gain See cases [RCV000135344] Chr9:13997..68401065 [GRCh38]
Chr9:13997..71015981 [GRCh37]
Chr9:3997..70205801 [NCBI36]
Chr9:9p24.3-q21.11
pathogenic
GRCh38/hg38 9p24.3(chr9:204090-381572)x3 copy number gain See cases [RCV000134805] Chr9:204090..381572 [GRCh38]
Chr9:204090..381572 [GRCh37]
Chr9:194090..371572 [NCBI36]
Chr9:9p24.3
benign
GRCh38/hg38 9p24.3(chr9:211086-356079)x3 copy number gain See cases [RCV000135114] Chr9:211086..356079 [GRCh38]
Chr9:211086..356079 [GRCh37]
Chr9:201086..346079 [NCBI36]
Chr9:9p24.3
benign|likely benign|conflicting data from submitters
GRCh38/hg38 9p24.3(chr9:185579-288161)x4 copy number gain See cases [RCV000135243] Chr9:185579..288161 [GRCh38]
Chr9:185579..288161 [GRCh37]
Chr9:175579..278161 [NCBI36]
Chr9:9p24.3
likely benign
GRCh38/hg38 9p24.3(chr9:211086-271257)x3 copy number gain See cases [RCV000135248] Chr9:211086..271257 [GRCh38]
Chr9:211086..271257 [GRCh37]
Chr9:201086..261257 [NCBI36]
Chr9:9p24.3
likely benign
GRCh38/hg38 9p24.3-22.1(chr9:204104-18882281)x1 copy number loss See cases [RCV000135694] Chr9:204104..18882281 [GRCh38]
Chr9:204104..18882279 [GRCh37]
Chr9:194104..18872279 [NCBI36]
Chr9:9p24.3-22.1
pathogenic
GRCh38/hg38 9p24.3(chr9:204193-280314)x1 copy number loss See cases [RCV000135716] Chr9:204193..280314 [GRCh38]
Chr9:204193..280314 [GRCh37]
Chr9:194193..270314 [NCBI36]
Chr9:9p24.3
uncertain significance
GRCh38/hg38 9p24.3-24.1(chr9:204193-6968724)x1 copy number loss See cases [RCV000135544] Chr9:204193..6968724 [GRCh38]
Chr9:204193..6968724 [GRCh37]
Chr9:194193..6958724 [NCBI36]
Chr9:9p24.3-24.1
pathogenic
GRCh38/hg38 9p24.3-23(chr9:204193-10852686)x1 copy number loss See cases [RCV000135563] Chr9:204193..10852686 [GRCh38]
Chr9:204193..10852686 [GRCh37]
Chr9:194193..10842686 [NCBI36]
Chr9:9p24.3-23
pathogenic
GRCh38/hg38 9p24.3(chr9:203993-381630)x3 copy number gain See cases [RCV000135423] Chr9:203993..381630 [GRCh38]
Chr9:203993..381630 [GRCh37]
Chr9:193993..371630 [NCBI36]
Chr9:9p24.3
benign
GRCh38/hg38 9p24.3(chr9:204104-343954)x3 copy number gain See cases [RCV000136123] Chr9:204104..343954 [GRCh38]
Chr9:204104..343954 [GRCh37]
Chr9:194104..333954 [NCBI36]
Chr9:9p24.3
uncertain significance
GRCh38/hg38 9p24.3-22.2(chr9:204193-16897580)x1 copy number loss See cases [RCV000135968] Chr9:204193..16897580 [GRCh38]
Chr9:204193..16897578 [GRCh37]
Chr9:194193..16887578 [NCBI36]
Chr9:9p24.3-22.2
pathogenic
GRCh38/hg38 9p24.3-23(chr9:204104-11298187)x1 copy number loss See cases [RCV000135935] Chr9:204104..11298187 [GRCh38]
Chr9:204104..11298187 [GRCh37]
Chr9:194104..11288187 [NCBI36]
Chr9:9p24.3-23
pathogenic
GRCh38/hg38 9p24.3(chr9:204090-260429)x1 copy number loss See cases [RCV000136051] Chr9:204090..260429 [GRCh38]
Chr9:204090..260429 [GRCh37]
Chr9:194090..250429 [NCBI36]
Chr9:9p24.3
uncertain significance
GRCh38/hg38 9p24.3-q21.13(chr9:193412-74615913)x3 copy number gain See cases [RCV000135954] Chr9:193412..74615913 [GRCh38]
Chr9:204193..77230829 [GRCh37]
Chr9:194193..76420649 [NCBI36]
Chr9:9p24.3-q21.13
pathogenic
GRCh38/hg38 9p24.3-22.3(chr9:214367-16307944)x1 copy number loss See cases [RCV000136859] Chr9:214367..16307944 [GRCh38]
Chr9:214367..16307942 [GRCh37]
Chr9:204367..16297942 [NCBI36]
Chr9:9p24.3-22.3
pathogenic
GRCh38/hg38 9p24.3-23(chr9:204193-11435662)x1 copy number loss See cases [RCV000136966] Chr9:204193..11435662 [GRCh38]
Chr9:204193..11435662 [GRCh37]
Chr9:194193..11425662 [NCBI36]
Chr9:9p24.3-23
pathogenic
GRCh38/hg38 9p24.3(chr9:204193-254712)x1 copy number loss See cases [RCV000136632] Chr9:204193..254712 [GRCh38]
Chr9:204193..254712 [GRCh37]
Chr9:194193..244712 [NCBI36]
Chr9:9p24.3
uncertain significance
GRCh38/hg38 9p24.3(chr9:204193-1592365)x1 copy number loss See cases [RCV000136667] Chr9:204193..1592365 [GRCh38]
Chr9:204193..1592365 [GRCh37]
Chr9:194193..1582365 [NCBI36]
Chr9:9p24.3
pathogenic
GRCh38/hg38 9p24.3-23(chr9:204104-14182668)x1 copy number loss See cases [RCV000137669] Chr9:204104..14182668 [GRCh38]
Chr9:204104..14182667 [GRCh37]
Chr9:194104..14172667 [NCBI36]
Chr9:9p24.3-23
pathogenic
GRCh38/hg38 9p24.3-24.1(chr9:204104-8266492)x1 copy number loss See cases [RCV000137455] Chr9:204104..8266492 [GRCh38]
Chr9:204104..8266492 [GRCh37]
Chr9:194104..8256492 [NCBI36]
Chr9:9p24.3-24.1
pathogenic
GRCh38/hg38 9p24.3-23(chr9:204104-11610300)x3 copy number gain See cases [RCV000137382] Chr9:204104..11610300 [GRCh38]
Chr9:204104..11610300 [GRCh37]
Chr9:194104..11600300 [NCBI36]
Chr9:9p24.3-23
pathogenic
GRCh38/hg38 9p24.3-24.1(chr9:204104-5426099)x3 copy number gain See cases [RCV000137339] Chr9:204104..5426099 [GRCh38]
Chr9:204104..5426099 [GRCh37]
Chr9:194104..5416099 [NCBI36]
Chr9:9p24.3-24.1
pathogenic
GRCh38/hg38 9p24.3-24.2(chr9:204104-3367760)x1 copy number loss See cases [RCV000137259] Chr9:204104..3367760 [GRCh38]
Chr9:204104..3367760 [GRCh37]
Chr9:194104..3357760 [NCBI36]
Chr9:9p24.3-24.2
pathogenic
GRCh38/hg38 9p24.3-24.1(chr9:204104-5695507)x1 copy number loss See cases [RCV000137376] Chr9:204104..5695507 [GRCh38]
Chr9:204104..5695507 [GRCh37]
Chr9:194104..5685507 [NCBI36]
Chr9:9p24.3-24.1
pathogenic
GRCh38/hg38 9p24.3-24.1(chr9:204104-5657733)x1 copy number loss See cases [RCV000138118] Chr9:204104..5657733 [GRCh38]
Chr9:204104..5657733 [GRCh37]
Chr9:194104..5647733 [NCBI36]
Chr9:9p24.3-24.1
pathogenic
GRCh38/hg38 9p24.3-23(chr9:204104-10023901)x1 copy number loss See cases [RCV000138119] Chr9:204104..10023901 [GRCh38]
Chr9:204104..10023901 [GRCh37]
Chr9:194104..10013901 [NCBI36]
Chr9:9p24.3-23
pathogenic
GRCh38/hg38 9p24.3(chr9:204104-291408)x3 copy number gain See cases [RCV000138148] Chr9:204104..291408 [GRCh38]
Chr9:204104..291408 [GRCh37]
Chr9:194104..281408 [NCBI36]
Chr9:9p24.3
likely benign
GRCh38/hg38 9p24.3-24.1(chr9:204104-7133443)x1 copy number loss See cases [RCV000137745] Chr9:204104..7133443 [GRCh38]
Chr9:204104..7133443 [GRCh37]
Chr9:194104..7123443 [NCBI36]
Chr9:9p24.3-24.1
pathogenic
GRCh38/hg38 9p24.3-q21.11(chr9:204104-66233120)x4 copy number gain See cases [RCV000137888] Chr9:204104..66233120 [GRCh38]
Chr9:204104..47212321 [GRCh37]
Chr9:194104..47002141 [NCBI36]
Chr9:9p24.3-q21.11
pathogenic|conflicting data from submitters
GRCh38/hg38 9p24.3-24.2(chr9:204104-3755031)x1 copy number loss See cases [RCV000137914] Chr9:204104..3755031 [GRCh38]
Chr9:204104..3755031 [GRCh37]
Chr9:194104..3745031 [NCBI36]
Chr9:9p24.3-24.2
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3 copy number gain See cases [RCV000138783] Chr9:193412..138124524 [GRCh38]
Chr9:204090..141018976 [GRCh37]
Chr9:194090..140138797 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p24.3(chr9:204090-348963)x3 copy number gain See cases [RCV000138739] Chr9:204090..348963 [GRCh38]
Chr9:204090..348963 [GRCh37]
Chr9:194090..338963 [NCBI36]
Chr9:9p24.3
likely benign
GRCh38/hg38 9p24.3(chr9:204090-416321)x1 copy number loss See cases [RCV000138500] Chr9:204090..416321 [GRCh38]
Chr9:204090..416321 [GRCh37]
Chr9:194090..406321 [NCBI36]
Chr9:9p24.3
pathogenic
GRCh38/hg38 9p24.3(chr9:204104-1457665)x1 copy number loss See cases [RCV000138306] Chr9:204104..1457665 [GRCh38]
Chr9:204104..1457665 [GRCh37]
Chr9:194104..1447665 [NCBI36]
Chr9:9p24.3
uncertain significance
GRCh38/hg38 9p24.3(chr9:204090-271186)x3 copy number gain See cases [RCV000139387] Chr9:204090..271186 [GRCh38]
Chr9:204090..271186 [GRCh37]
Chr9:194090..261186 [NCBI36]
Chr9:9p24.3
likely benign
GRCh38/hg38 9p24.3-q21.11(chr9:204104-67549861)x3 copy number gain See cases [RCV000139208] Chr9:204104..67549861 [GRCh38]
Chr9:204104..66516698 [GRCh37]
Chr9:194104..66256518 [NCBI36]
Chr9:9p24.3-q21.11
pathogenic
GRCh38/hg38 9p24.3(chr9:204090-291379)x3 copy number gain See cases [RCV000138982] Chr9:204090..291379 [GRCh38]
Chr9:204090..291379 [GRCh37]
Chr9:194090..281379 [NCBI36]
Chr9:9p24.3
likely benign
GRCh38/hg38 9p24.3-13.3(chr9:204104-34151476)x3 copy number gain See cases [RCV000139015] Chr9:204104..34151476 [GRCh38]
Chr9:204104..34151474 [GRCh37]
Chr9:194104..34141474 [NCBI36]
Chr9:9p24.3-13.3
pathogenic|likely benign
GRCh38/hg38 9p24.3-13.1(chr9:204104-38768294)x3 copy number gain See cases [RCV000139126] Chr9:204104..38768294 [GRCh38]
Chr9:204104..38768291 [GRCh37]
Chr9:194104..38758291 [NCBI36]
Chr9:9p24.3-13.1
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000138962] Chr9:193412..138159073 [GRCh38]
Chr9:204104..141053525 [GRCh37]
Chr9:194104..140173346 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic|conflicting data from submitters
GRCh38/hg38 9p24.3-24.1(chr9:204104-6322471)x1 copy number loss See cases [RCV000140410] Chr9:204104..6322471 [GRCh38]
Chr9:204104..6322471 [GRCh37]
Chr9:194104..6312471 [NCBI36]
Chr9:9p24.3-24.1
pathogenic
GRCh38/hg38 9p24.3-23(chr9:204090-9282864)x1 copy number loss See cases [RCV000139566] Chr9:204090..9282864 [GRCh38]
Chr9:204090..9282864 [GRCh37]
Chr9:194090..9272864 [NCBI36]
Chr9:9p24.3-23
pathogenic
GRCh38/hg38 9p24.3-21.2(chr9:204104-27963369)x3 copy number gain See cases [RCV000139621] Chr9:204104..27963369 [GRCh38]
Chr9:204104..27963367 [GRCh37]
Chr9:194104..27953367 [NCBI36]
Chr9:9p24.3-21.2
pathogenic
GRCh38/hg38 9p24.3-24.1(chr9:185579-7635806)x1 copy number loss See cases [RCV000141407] Chr9:185579..7635806 [GRCh38]
Chr9:185579..7635806 [GRCh37]
Chr9:175579..7625806 [NCBI36]
Chr9:9p24.3-24.1
pathogenic
GRCh38/hg38 9p24.3-23(chr9:211086-11457340)x1 copy number loss See cases [RCV000141408] Chr9:211086..11457340 [GRCh38]
Chr9:211086..11457340 [GRCh37]
Chr9:201086..11447340 [NCBI36]
Chr9:9p24.3-23
pathogenic
GRCh38/hg38 9p24.3(chr9:203861-547543)x3 copy number gain See cases [RCV000140896] Chr9:203861..547543 [GRCh38]
Chr9:203861..547543 [GRCh37]
Chr9:193861..537543 [NCBI36]
Chr9:9p24.3
uncertain significance
GRCh38/hg38 9p24.3(chr9:211086-314969)x3 copy number gain See cases [RCV000140637] Chr9:211086..314969 [GRCh38]
Chr9:211086..314969 [GRCh37]
Chr9:201086..304969 [NCBI36]
Chr9:9p24.3
benign
GRCh38/hg38 9p24.3(chr9:62525-386070)x3 copy number gain See cases [RCV000140710] Chr9:62525..386070 [GRCh38]
Chr9:62525..386070 [GRCh37]
Chr9:52525..376070 [NCBI36]
Chr9:9p24.3
likely benign
GRCh38/hg38 9p24.3-24.1(chr9:211086-7444397)x1 copy number loss See cases [RCV000140601] Chr9:211086..7444397 [GRCh38]
Chr9:211086..7444397 [GRCh37]
Chr9:201086..7434397 [NCBI36]
Chr9:9p24.3-24.1
pathogenic
GRCh38/hg38 9p24.3-q22.1(chr9:203861-88130444)x4 copy number gain See cases [RCV000141904] Chr9:203861..88130444 [GRCh38]
Chr9:203861..90745359 [GRCh37]
Chr9:193861..89935179 [NCBI36]
Chr9:9p24.3-q22.1
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3 copy number gain See cases [RCV000141876] Chr9:203861..138125937 [GRCh38]
Chr9:203861..141020389 [GRCh37]
Chr9:193861..140140210 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p24.3(chr9:204193-416351)x3 copy number gain See cases [RCV000141598] Chr9:204193..416351 [GRCh38]
Chr9:204193..416351 [GRCh37]
Chr9:194193..406351 [NCBI36]
Chr9:9p24.3
uncertain significance
GRCh38/hg38 9p24.3-21.1(chr9:203861-31423873)x4 copy number gain See cases [RCV000141662] Chr9:203861..31423873 [GRCh38]
Chr9:203861..31423871 [GRCh37]
Chr9:193861..31413871 [NCBI36]
Chr9:9p24.3-21.1
pathogenic
GRCh38/hg38 9p24.3(chr9:204090-318901)x3 copy number gain See cases [RCV000142418] Chr9:204090..318901 [GRCh38]
Chr9:204090..318901 [GRCh37]
Chr9:194090..308901 [NCBI36]
Chr9:9p24.3
benign
GRCh38/hg38 9p24.3-24.2(chr9:203861-4585050)x1 copy number loss See cases [RCV000142301] Chr9:203861..4585050 [GRCh38]
Chr9:203861..4585050 [GRCh37]
Chr9:193861..4575050 [NCBI36]
Chr9:9p24.3-24.2
pathogenic
GRCh38/hg38 9p24.3-24.1(chr9:203861-8172957)x1 copy number loss See cases [RCV000142074] Chr9:203861..8172957 [GRCh38]
Chr9:203861..8172957 [GRCh37]
Chr9:193861..8162957 [NCBI36]
Chr9:9p24.3-24.1
pathogenic
GRCh38/hg38 9p24.3-24.1(chr9:204090-4970154)x3 copy number gain See cases [RCV000142816] Chr9:204090..4970154 [GRCh38]
Chr9:204090..4970154 [GRCh37]
Chr9:194090..4960154 [NCBI36]
Chr9:9p24.3-24.1
pathogenic
GRCh38/hg38 9p24.3(chr9:204090-416321)x3 copy number gain See cases [RCV000142841] Chr9:204090..416321 [GRCh38]
Chr9:204090..416321 [GRCh37]
Chr9:194090..406321 [NCBI36]
Chr9:9p24.3
likely benign
GRCh38/hg38 9p24.3-22.3(chr9:204090-15260600)x1 copy number loss See cases [RCV000142964] Chr9:204090..15260600 [GRCh38]
Chr9:204090..15260598 [GRCh37]
Chr9:194090..15250598 [NCBI36]
Chr9:9p24.3-22.3
pathogenic
GRCh38/hg38 9p24.3-q21.31(chr9:193412-79877816)x3 copy number gain See cases [RCV000143012] Chr9:193412..79877816 [GRCh38]
Chr9:204104..82492731 [GRCh37]
Chr9:194104..81682551 [NCBI36]
Chr9:9p24.3-q21.31
pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:203861-38381642) copy number gain See cases [RCV000143411] Chr9:203861..38381642 [GRCh38]
Chr9:203861..38381639 [GRCh37]
Chr9:193861..38371639 [NCBI36]
Chr9:9p24.3-13.1
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3 copy number gain See cases [RCV000143476] Chr9:203862..138125937 [GRCh38]
Chr9:203862..141020389 [GRCh37]
Chr9:193862..140140210 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p24.3-24.1(chr9:203861-5094461)x1 copy number loss See cases [RCV000143637] Chr9:203861..5094461 [GRCh38]
Chr9:203861..5094461 [GRCh37]
Chr9:193861..5084461 [NCBI36]
Chr9:9p24.3-24.1
pathogenic
GRCh38/hg38 9p24.3(chr9:204193-332515)x1 copy number loss See cases [RCV000148280] Chr9:204193..332515 [GRCh38]
Chr9:204193..332515 [GRCh37]
Chr9:194193..322515 [NCBI36]
Chr9:9p24.3
uncertain significance
GRCh38/hg38 9p24.3(chr9:204193-381489)x3 copy number gain See cases [RCV000148203] Chr9:204193..381489 [GRCh38]
Chr9:204193..381489 [GRCh37]
Chr9:194193..371489 [NCBI36]
Chr9:9p24.3
uncertain significance
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000148113] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3 copy number gain See cases [RCV000148159] Chr9:204193..38815478 [GRCh38]
Chr9:204193..38815475 [GRCh37]
Chr9:194193..38805475 [NCBI36]
Chr9:9p24.3-13.1
pathogenic
GRCh38/hg38 9p24.3(chr9:204193-295405)x3 copy number gain See cases [RCV000148192] Chr9:204193..295405 [GRCh38]
Chr9:204193..295405 [GRCh37]
Chr9:194193..285405 [NCBI36]
Chr9:9p24.3
uncertain significance
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|See cases [RCV000053748] Chr9:193412..138179445 [GRCh38]
Chr9:266045..141073897 [GRCh37]
Chr9:256045..140193718 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
NM_207305.4(FOXD4):c.-155989_*70213dup duplication Normal pregnancy [RCV000161555] Chr9:46587..274108 [GRCh38]
Chr9:46587..274108 [GRCh37]
Chr9:9p24.3
not provided
GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000139207] Chr9:193412..138159073 [GRCh38]
Chr9:68420641..141053525 [GRCh37]
Chr9:67910461..140173346 [NCBI36]
Chr9:9p11.2-q34.3
pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:163131-38763958)x3 copy number gain See cases [RCV000240201] Chr9:163131..38763958 [GRCh37]
Chr9:9p24.3-13.1
pathogenic
GRCh37/hg19 9p24.3-23(chr9:13997-11376705)x1 copy number loss See cases [RCV000239799] Chr9:13997..11376705 [GRCh37]
Chr9:9p24.3-23
pathogenic
Single allele deletion Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive [RCV000210049] Chr9:204193..343954 [GRCh38]
Chr9:204193..343954 [GRCh37]
Chr9:9p24.3
pathogenic
NM_203447.3(DOCK8):c.53+52T>G single nucleotide variant not provided [RCV000224661] Chr9:215081 [GRCh38]
Chr9:215081 [GRCh37]
Chr9:9p24.3
likely benign
GRCh37/hg19 9p24.3(chr9:46587-262191)x3 copy number gain Premature ovarian failure [RCV000225168] Chr9:46587..262191 [GRCh37]
Chr9:9p24.3
benign
GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3 copy number gain See cases [RCV000240081] Chr9:163131..141122114 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-11.2(chr9:213161-47212321)x4 copy number gain See cases [RCV000240048] Chr9:213161..47212321 [GRCh37]
Chr9:9p24.3-11.2
pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:213161-39092820)x3 copy number gain See cases [RCV000239869] Chr9:213161..39092820 [GRCh37]
Chr9:9p24.3-13.1
pathogenic
GRCh37/hg19 9p24.3(chr9:214254-433906)x3 copy number gain See cases [RCV000239840] Chr9:214254..433906 [GRCh37]
Chr9:9p24.3
uncertain significance
GRCh37/hg19 9p24.3-22.1(chr9:213161-19450250)x3 copy number gain See cases [RCV000240225] Chr9:213161..19450250 [GRCh37]
Chr9:9p24.3-22.1
pathogenic
NM_203447.3(DOCK8):c.53+11C>T single nucleotide variant Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive [RCV000373258] Chr9:215040 [GRCh38]
Chr9:215040 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_203447.3(DOCK8):c.-69T>C single nucleotide variant Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive [RCV000331854]|not provided [RCV000833747] Chr9:214908 [GRCh38]
Chr9:214908 [GRCh37]
Chr9:9p24.3
benign|likely benign
NM_203447.3(DOCK8):c.36C>A (p.Phe12Leu) single nucleotide variant Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive [RCV000332616] Chr9:215012 [GRCh38]
Chr9:215012 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_203447.3(DOCK8):c.-58C>T single nucleotide variant Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive [RCV000385902] Chr9:214919 [GRCh38]
Chr9:214919 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_203447.3(DOCK8):c.-100T>A single nucleotide variant Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive [RCV000272140] Chr9:214877 [GRCh38]
Chr9:214877 [GRCh37]
Chr9:9p24.3
uncertain significance
GRCh37/hg19 9p24.3(chr9:204053-695537)x1 copy number loss not provided [RCV001270670] Chr9:204053..695537 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_203447.3(DOCK8):c.-113C>T single nucleotide variant Hyper-IgE syndrome [RCV000306874]|not provided [RCV000833524] Chr9:214864 [GRCh38]
Chr9:214864 [GRCh37]
Chr9:9p24.3
benign
NM_203447.3(DOCK8):c.-105G>T single nucleotide variant Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive [RCV000366726] Chr9:214872 [GRCh38]
Chr9:214872 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_203447.3(DOCK8):c.34T>G (p.Phe12Val) single nucleotide variant Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive [RCV000296274] Chr9:215010 [GRCh38]
Chr9:215010 [GRCh37]
Chr9:9p24.3
uncertain significance
GRCh37/hg19 9p24.3-q13(chr9:203861-68188391)x4 copy number gain See cases [RCV000449165] Chr9:203861..68188391 [GRCh37]
Chr9:9p24.3-q13
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407) copy number gain See cases [RCV000449375] Chr9:62525..141006407 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3(chr9:118241-239426)x1 copy number loss See cases [RCV000449094] Chr9:118241..239426 [GRCh37]
Chr9:9p24.3
likely benign
GRCh37/hg19 9p24.3(chr9:203861-452926)x3 copy number gain See cases [RCV000446075] Chr9:203861..452926 [GRCh37]
Chr9:9p24.3
uncertain significance
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3 copy number gain See cases [RCV000447207] Chr9:203861..141020389 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-22.3(chr9:203861-15211277)x1 copy number loss See cases [RCV000446597] Chr9:203861..15211277 [GRCh37]
Chr9:9p24.3-22.3
pathogenic
GRCh37/hg19 9p24.3(chr9:203861-378086)x3 copy number gain See cases [RCV000447570] Chr9:203861..378086 [GRCh37]
Chr9:9p24.3
pathogenic
GRCh37/hg19 9p24.3-24.1(chr9:203861-5909152)x1 copy number loss See cases [RCV000447358] Chr9:203861..5909152 [GRCh37]
Chr9:9p24.3-24.1
pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-67983174)x4 copy number gain See cases [RCV000446521] Chr9:203861..67983174 [GRCh37]
Chr9:9p24.3-q13
pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:32396-39140211) copy number gain See cases [RCV000447246] Chr9:32396..39140211 [GRCh37]
Chr9:9p24.3-13.1
pathogenic
GRCh37/hg19 9p24.3-22.2(chr9:203861-16925108)x1 copy number loss See cases [RCV000447415] Chr9:203861..16925108 [GRCh37]
Chr9:9p24.3-22.2
pathogenic
GRCh37/hg19 9p24.3-22.3(chr9:203861-14322268)x1 copy number loss See cases [RCV000447144] Chr9:203861..14322268 [GRCh37]
Chr9:9p24.3-22.3
pathogenic
GRCh37/hg19 9p24.3(chr9:203861-258973)x1 copy number loss See cases [RCV000446068] Chr9:203861..258973 [GRCh37]
Chr9:9p24.3
uncertain significance
GRCh37/hg19 9p24.3-22.2(chr9:203861-16670878)x1 copy number loss See cases [RCV000446566] Chr9:203861..16670878 [GRCh37]
Chr9:9p24.3-22.2
pathogenic
GRCh37/hg19 9p24.3-22.2(chr9:203861-16856907)x1 copy number loss See cases [RCV000445963] Chr9:203861..16856907 [GRCh37]
Chr9:9p24.3-22.2
pathogenic
NM_203447.3(DOCK8):c.12G>T (p.Leu4=) single nucleotide variant not specified [RCV000442764] Chr9:214988 [GRCh38]
Chr9:214988 [GRCh37]
Chr9:9p24.3
likely benign
GRCh37/hg19 9p24.3-22.2(chr9:213161-17496750)x1 copy number loss See cases [RCV000445998] Chr9:213161..17496750 [GRCh37]
Chr9:9p24.3-22.2
pathogenic
GRCh37/hg19 9p24.3-q21.11(chr9:13997-70919878)x4 copy number gain See cases [RCV000448242] Chr9:13997..70919878 [GRCh37]
Chr9:9p24.3-q21.11
pathogenic
GRCh37/hg19 9p24.3(chr9:156512-215717)x1 copy number loss See cases [RCV000448491] Chr9:156512..215717 [GRCh37]
Chr9:9p24.3
likely benign
GRCh37/hg19 9p24.3-24.2(chr9:213161-3497920)x1 copy number loss See cases [RCV000448791] Chr9:213161..3497920 [GRCh37]
Chr9:9p24.3-24.2
pathogenic
GRCh37/hg19 9p24.3-23(chr9:203861-11414732)x1 copy number loss See cases [RCV000448147] Chr9:203861..11414732 [GRCh37]
Chr9:9p24.3-23
pathogenic
GRCh37/hg19 9p24.3(chr9:118241-213161)x1 copy number loss See cases [RCV000448717] Chr9:118241..213161 [GRCh37]
Chr9:9p24.3
benign
GRCh37/hg19 9p24.3(chr9:214048-239426)x1 copy number loss See cases [RCV000448165] Chr9:214048..239426 [GRCh37]
Chr9:9p24.3
likely benign
GRCh37/hg19 9p24.3-24.1(chr9:203861-8735462)x1 copy number loss See cases [RCV000448304] Chr9:203861..8735462 [GRCh37]
Chr9:9p24.3-24.1
pathogenic
GRCh37/hg19 9p24.3-q21.11(chr9:203861-69002883)x3 copy number gain See cases [RCV000448569] Chr9:203861..69002883 [GRCh37]
Chr9:9p24.3-q21.11
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203864-141020389)x3 copy number gain See cases [RCV000448978] Chr9:203864..141020389 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3(chr9:203861-268590)x1 copy number loss See cases [RCV000448085] Chr9:203861..268590 [GRCh37]
Chr9:9p24.3
uncertain significance
GRCh37/hg19 9p24.3-22.2(chr9:203861-17125893)x1 copy number loss See cases [RCV000512122] Chr9:203861..17125893 [GRCh37]
Chr9:9p24.3-22.2
pathogenic
GRCh37/hg19 9p24.3(chr9:203861-217826)x1 copy number loss See cases [RCV000510694] Chr9:203861..217826 [GRCh37]
Chr9:9p24.3
likely benign
GRCh37/hg19 9p24.3(chr9:203861-498236)x4 copy number gain See cases [RCV000512021] Chr9:203861..498236 [GRCh37]
Chr9:9p24.3
likely benign
NM_203447.3(DOCK8):c.52A>G (p.Arg18Gly) single nucleotide variant Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive [RCV001085771]|Inborn genetic diseases [RCV000624829]|not provided [RCV000494317] Chr9:215028 [GRCh38]
Chr9:215028 [GRCh37]
Chr9:9p24.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 9p24.3-23(chr9:203861-13486759)x1 copy number loss See cases [RCV000511432] Chr9:203861..13486759 [GRCh37]
Chr9:9p24.3-23
pathogenic
GRCh37/hg19 9p24.3(chr9:203861-1677474)x3 copy number gain See cases [RCV000511819] Chr9:203861..1677474 [GRCh37]
Chr9:9p24.3
uncertain significance
GRCh37/hg19 9p24.3(chr9:203861-452926)x1 copy number loss See cases [RCV000511112] Chr9:203861..452926 [GRCh37]
Chr9:9p24.3
uncertain significance
GRCh37/hg19 9p24.3(chr9:203861-584635)x3 copy number gain See cases [RCV000511136] Chr9:203861..584635 [GRCh37]
Chr9:9p24.3
uncertain significance
GRCh37/hg19 9p24.3(chr9:203861-539781)x1 copy number loss See cases [RCV000510930] Chr9:203861..539781 [GRCh37]
Chr9:9p24.3
uncertain significance
GRCh37/hg19 9p24.3-22.2(chr9:203861-17655298)x1 copy number loss See cases [RCV000510944] Chr9:203861..17655298 [GRCh37]
Chr9:9p24.3-22.2
pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:203861-38787480)x3 copy number gain See cases [RCV000510864] Chr9:203861..38787480 [GRCh37]
Chr9:9p24.3-13.1
pathogenic
GRCh37/hg19 9p24.3(chr9:203861-1672167)x3 copy number gain See cases [RCV000511277] Chr9:203861..1672167 [GRCh37]
Chr9:9p24.3
uncertain significance
GRCh37/hg19 9p24.3-23(chr9:203861-10700288)x3 copy number gain See cases [RCV000510843] Chr9:203861..10700288 [GRCh37]
Chr9:9p24.3-23
likely pathogenic
NC_000009.12:g.(?_214957)_(215049_?)del deletion Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive [RCV000540625] Chr9:214957..215049 [GRCh38]
Chr9:214957..215049 [GRCh37]
Chr9:9p24.3
pathogenic
NM_203447.3(DOCK8):c.-12C>T single nucleotide variant not specified [RCV000616754] Chr9:214965 [GRCh38]
Chr9:214965 [GRCh37]
Chr9:9p24.3
likely benign
GRCh37/hg19 9p24.3(chr9:203861-519592)x3 copy number gain See cases [RCV000512260] Chr9:203861..519592 [GRCh37]
Chr9:9p24.3
uncertain significance
GRCh37/hg19 9p24.3-24.1(chr9:203861-5081516)x1 copy number loss See cases [RCV000512311] Chr9:203861..5081516 [GRCh37]
Chr9:9p24.3-24.1
pathogenic
GRCh37/hg19 9p24.3-q21.33(chr9:203861-88189913)x3 copy number gain See cases [RCV000512431] Chr9:203861..88189913 [GRCh37]
Chr9:9p24.3-q21.33
pathogenic
NC_000009.11:g.(?_214957)_(271749_?)dup duplication Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive [RCV000645188] Chr9:214957..271749 [GRCh38]
Chr9:214957..271749 [GRCh37]
Chr9:9p24.3
uncertain significance
NC_000009.11:g.(?_214957)_(289601_?)dup duplication Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive [RCV000645186] Chr9:214957..289601 [GRCh38]
Chr9:214957..289601 [GRCh37]
Chr9:9p24.3
uncertain significance
GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389) copy number gain See cases [RCV000512392] Chr9:203862..141020389 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-11.2(chr9:204193-44259464)x4 copy number gain Syndromic hydrocephalus due to diffuse villous hyperplasia of choroid plexus [RCV000677299] Chr9:204193..44259464 [GRCh37]
Chr9:9p24.3-11.2
likely pathogenic
GRCh37/hg19 9p24.3(chr9:203861-340662)x3 copy number gain not provided [RCV000683083] Chr9:203861..340662 [GRCh37]
Chr9:9p24.3
uncertain significance
GRCh37/hg19 9p24.3-24.1(chr9:203861-7007586)x1 copy number loss not provided [RCV000683162] Chr9:203861..7007586 [GRCh37]
Chr9:9p24.3-24.1
pathogenic
GRCh37/hg19 9p24.3-22.3(chr9:203861-14744606)x1 copy number loss not provided [RCV000683168] Chr9:203861..14744606 [GRCh37]
Chr9:9p24.3-22.3
pathogenic
GRCh37/hg19 9p24.3-21.2(chr9:203861-26397133)x3 copy number gain not provided [RCV000683171] Chr9:203861..26397133 [GRCh37]
Chr9:9p24.3-21.2
pathogenic
GRCh37/hg19 9p24.3(chr9:203861-399039)x3 copy number gain not provided [RCV000683090] Chr9:203861..399039 [GRCh37]
Chr9:9p24.3
uncertain significance
GRCh37/hg19 9p24.3(chr9:203861-635302)x3 copy number gain not provided [RCV000683120] Chr9:203861..635302 [GRCh37]
Chr9:9p24.3
uncertain significance
GRCh37/hg19 9p24.3(chr9:203861-352855)x3 copy number gain not provided [RCV000683086] Chr9:203861..352855 [GRCh37]
Chr9:9p24.3
uncertain significance
GRCh37/hg19 9p24.3-24.1(chr9:203861-4959039)x1 copy number loss not provided [RCV000683159] Chr9:203861..4959039 [GRCh37]
Chr9:9p24.3-24.1
pathogenic
GRCh37/hg19 9p24.3(chr9:203861-268590)x1 copy number loss not provided [RCV000683056] Chr9:203861..268590 [GRCh37]
Chr9:9p24.3
uncertain significance
GRCh37/hg19 9p24.3(chr9:203861-516638)x4 copy number gain not provided [RCV000683110] Chr9:203861..516638 [GRCh37]
Chr9:9p24.3
uncertain significance
GRCh37/hg19 9p24.3(chr9:203861-525036)x1 copy number loss not provided [RCV000683112] Chr9:203861..525036 [GRCh37]
Chr9:9p24.3
likely pathogenic
GRCh37/hg19 9p24.3-23(chr9:203861-9924905)x1 copy number loss not provided [RCV000683166] Chr9:203861..9924905 [GRCh37]
Chr9:9p24.3-23
pathogenic
GRCh37/hg19 9p24.3(chr9:209753-236828)x1 copy number loss not provided [RCV000683046] Chr9:209753..236828 [GRCh37]
Chr9:9p24.3
likely pathogenic|uncertain significance
GRCh37/hg19 9p24.3(chr9:203861-378086)x1 copy number loss not provided [RCV000683088] Chr9:203861..378086 [GRCh37]
Chr9:9p24.3
likely pathogenic
GRCh37/hg19 9p24.3-23(chr9:203861-9306658)x1 copy number loss not provided [RCV000683164] Chr9:203861..9306658 [GRCh37]
Chr9:9p24.3-23
pathogenic
GRCh37/hg19 9p24.3-23(chr9:203861-11271239)x1 copy number loss not provided [RCV000683167] Chr9:203861..11271239 [GRCh37]
Chr9:9p24.3-23
pathogenic
GRCh37/hg19 9p24.3-21.3(chr9:203861-20653468)x3 copy number gain not provided [RCV000683170] Chr9:203861..20653468 [GRCh37]
Chr9:9p24.3-21.3
pathogenic
GRCh37/hg19 9p24.3(chr9:203861-305975)x3 copy number gain not provided [RCV000683074] Chr9:203861..305975 [GRCh37]
Chr9:9p24.3
uncertain significance
GRCh37/hg19 9p24.3-13.1(chr9:203861-38787480)x3 copy number gain not provided [RCV000683172] Chr9:203861..38787480 [GRCh37]
Chr9:9p24.3-13.1
pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-67983174)x4 copy number gain not provided [RCV000683173] Chr9:203861..67983174 [GRCh37]
Chr9:9p24.3-q13
pathogenic
GRCh37/hg19 9p24.3-q21.11(chr9:203861-70985795)x4 copy number gain not provided [RCV000683175] Chr9:203861..70985795 [GRCh37]
Chr9:9p24.3-q21.11
pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-68262804)x3,4 copy number gain not provided [RCV000683174] Chr9:203861..68262804 [GRCh37]
Chr9:9p24.3-q13
pathogenic
GRCh37/hg19 9p24.3-q21.12(chr9:203861-72717793)x3 copy number gain not provided [RCV000683176] Chr9:203861..72717793 [GRCh37]
Chr9:9p24.3-q21.12
pathogenic
NC_000009.11:g.(?_214957)_(464239_?)dup duplication Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive [RCV000707776] Chr9:214957..464239 [GRCh38]
Chr9:214957..464239 [GRCh37]
Chr9:9p24.3
uncertain significance
NC_000009.11:g.(?_214957)_(215049_?)dup duplication Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive [RCV000708303] Chr9:214957..215049 [GRCh38]
Chr9:214957..215049 [GRCh37]
Chr9:9p24.3
uncertain significance
NC_000009.11:g.(?_214957)_(340341_?)dup duplication Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive [RCV000708314] Chr9:214957..340341 [GRCh38]
Chr9:214957..340341 [GRCh37]
Chr9:9p24.3
uncertain significance
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3 copy number gain not provided [RCV000845900] Chr9:203861..141020388 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
NC_000009.12:g.(?_214957)_(464239_?)del deletion Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive [RCV000820609] Chr9:214957..464239 [GRCh38]
Chr9:214957..464239 [GRCh37]
Chr9:9p24.3
pathogenic
NC_000009.12:g.(?_10000)_(400952_?)del deletion Schizophrenia [RCV000754357] Chr9:10000..400952 [GRCh38]
Chr9:9p24.3
likely pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141122247)x3 copy number gain not provided [RCV000748055] Chr9:10590..141122247 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3(chr9:10590-364675)x3 copy number gain not provided [RCV000748052] Chr9:10590..364675 [GRCh37]
Chr9:9p24.3
benign
GRCh37/hg19 9p24.3(chr9:46587-347559)x3 copy number gain not provided [RCV000748057] Chr9:46587..347559 [GRCh37]
Chr9:9p24.3
benign
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141107672)x3 copy number gain not provided [RCV000748053] Chr9:10590..141107672 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3(chr9:46587-398673)x3 copy number gain not provided [RCV000748058] Chr9:46587..398673 [GRCh37]
Chr9:9p24.3
benign
GRCh37/hg19 9p24.3-24.1(chr9:46587-5486856)x1 copy number loss not provided [RCV000748059] Chr9:46587..5486856 [GRCh37]
Chr9:9p24.3-24.1
pathogenic
GRCh37/hg19 9p24.3-23(chr9:46587-12532584)x1 copy number loss not provided [RCV000748060] Chr9:46587..12532584 [GRCh37]
Chr9:9p24.3-23
pathogenic
GRCh37/hg19 9p24.3-23(chr9:46587-13708607)x1 copy number loss not provided [RCV000748061] Chr9:46587..13708607 [GRCh37]
Chr9:9p24.3-23
pathogenic
GRCh37/hg19 9p24.3-21.3(chr9:46587-22012051)x3 copy number gain not provided [RCV000748062] Chr9:46587..22012051 [GRCh37]
Chr9:9p24.3-21.3
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:46587-141066491)x3 copy number gain not provided [RCV000748063] Chr9:46587..141066491 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141114095)x2 copy number gain not provided [RCV000748054] Chr9:10590..141114095 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3(chr9:185632-359338)x3 copy number gain not provided [RCV000748064] Chr9:185632..359338 [GRCh37]
Chr9:9p24.3
benign
GRCh37/hg19 9p24.3(chr9:186603-215534)x1 copy number loss not provided [RCV000748065] Chr9:186603..215534 [GRCh37]
Chr9:9p24.3
benign
GRCh37/hg19 9p24.3(chr9:186603-243357)x1 copy number loss not provided [RCV000748066] Chr9:186603..243357 [GRCh37]
Chr9:9p24.3
benign
GRCh37/hg19 9p24.3(chr9:188894-215269)x1 copy number loss not provided [RCV000748067] Chr9:188894..215269 [GRCh37]
Chr9:9p24.3
benign
GRCh37/hg19 9p24.3(chr9:188894-377066)x3 copy number gain not provided [RCV000748068] Chr9:188894..377066 [GRCh37]
Chr9:9p24.3
benign
GRCh37/hg19 9p24.3(chr9:204201-319782)x1 copy number loss not provided [RCV000748069] Chr9:204201..319782 [GRCh37]
Chr9:9p24.3
benign
GRCh37/hg19 9p24.3(chr9:214864-245706)x1 copy number loss not provided [RCV000748070] Chr9:214864..245706 [GRCh37]
Chr9:9p24.3
benign
GRCh37/hg19 9p24.3(chr9:211086-416351)x3 copy number gain not provided [RCV000856655] Chr9:211086..416351 [GRCh37]
Chr9:9p24.3
uncertain significance
NC_000009.12:g.(?_214957)_(399279_?)dup duplication Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive [RCV001031509] Chr9:214957..399279 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_203447.3(DOCK8):c.15G>A (p.Pro5=) single nucleotide variant Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive [RCV000884289] Chr9:214991 [GRCh38]
Chr9:214991 [GRCh37]
Chr9:9p24.3
benign
GRCh37/hg19 9p24.3-22.2(chr9:203861-17789410)x1 copy number loss not provided [RCV001006163] Chr9:203861..17789410 [GRCh37]
Chr9:9p24.3-22.2
pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:214309-39156958) copy number gain not provided [RCV000767644] Chr9:214309..39156958 [GRCh37]
Chr9:9p24.3-13.1
pathogenic
NM_203447.4(DOCK8):c.49A>T (p.Asn17Tyr) single nucleotide variant Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive [RCV001059635] Chr9:215025 [GRCh38]
Chr9:215025 [GRCh37]
Chr9:9p24.3
uncertain significance
GRCh37/hg19 9p24.3-13.1(chr9:203861-38472979)x3 copy number gain not provided [RCV000848175] Chr9:203861..38472979 [GRCh37]
Chr9:9p24.3-13.1
pathogenic
GRCh37/hg19 9p24.3(chr9:203861-382931)x1 copy number loss not provided [RCV001006159] Chr9:203861..382931 [GRCh37]
Chr9:9p24.3
pathogenic
NC_000009.11:g.(?_214957)_(407089_?)dup duplication Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive [RCV000823251] Chr9:214957..407089 [GRCh38]
Chr9:214957..407089 [GRCh37]
Chr9:9p24.3
uncertain significance
NC_000009.12:g.(?_214957)_(328191_?)del deletion Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive [RCV000803933] Chr9:214957..328191 [GRCh38]
Chr9:214957..328191 [GRCh37]
Chr9:9p24.3
pathogenic
NC_000009.11:g.(?_214957)_(422155_?)dup duplication Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive [RCV000806572] Chr9:214957..422155 [GRCh38]
Chr9:214957..422155 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_203447.3:c.-113C>T single nucleotide variant not provided [RCV000833524] Chr9:214864 [GRCh37]
Chr9:9p24.3
benign
NM_203447.3(DOCK8):c.-173A>G single nucleotide variant not provided [RCV000833735] Chr9:214804 [GRCh38]
Chr9:214804 [GRCh37]
Chr9:9p24.3
benign
GRCh37/hg19 9p24.3(chr9:209753-236828)x1 copy number loss not provided [RCV000846558] Chr9:209753..236828 [GRCh37]
Chr9:9p24.3
uncertain significance
GRCh37/hg19 9p24.3(chr9:203861-273071)x3 copy number gain not provided [RCV000849003] Chr9:203861..273071 [GRCh37]
Chr9:9p24.3
uncertain significance
GRCh37/hg19 9p24.3(chr9:203861-273057)x3 copy number gain not provided [RCV000847766] Chr9:203861..273057 [GRCh37]
Chr9:9p24.3
uncertain significance
GRCh37/hg19 9p24.3(chr9:203861-1539085)x1 copy number loss not provided [RCV000848099] Chr9:203861..1539085 [GRCh37]
Chr9:9p24.3
uncertain significance
GRCh37/hg19 9p24.3(chr9:203861-573614)x3 copy number gain not provided [RCV000849538] Chr9:203861..573614 [GRCh37]
Chr9:9p24.3
uncertain significance
GRCh37/hg19 9p24.3(chr9:203861-402280)x3 copy number gain not provided [RCV000845966] Chr9:203861..402280 [GRCh37]
Chr9:9p24.3
uncertain significance
GRCh37/hg19 9p24.3(chr9:203861-238536)x1 copy number loss not provided [RCV000849725] Chr9:203861..238536 [GRCh37]
Chr9:9p24.3
uncertain significance
GRCh37/hg19 9p24.3(chr9:203861-273057)x3 copy number gain not provided [RCV000846059] Chr9:203861..273057 [GRCh37]
Chr9:9p24.3
uncertain significance
GRCh37/hg19 9p24.3-24.2(chr9:203861-2978707)x1 copy number loss not provided [RCV000849761] Chr9:203861..2978707 [GRCh37]
Chr9:9p24.3-24.2
pathogenic
GRCh37/hg19 9p24.3(chr9:203861-273057)x3 copy number gain not provided [RCV000848505] Chr9:203861..273057 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_203447.3(DOCK8):c.53+240A>C single nucleotide variant not provided [RCV000836371] Chr9:215269 [GRCh38]
Chr9:215269 [GRCh37]
Chr9:9p24.3
benign
GRCh37/hg19 9p24.3(chr9:203861-273233)x3 copy number gain not provided [RCV000848804] Chr9:203861..273233 [GRCh37]
Chr9:9p24.3
uncertain significance
GRCh37/hg19 9p24.3(chr9:203861-429474)x3 copy number gain not provided [RCV000848593] Chr9:203861..429474 [GRCh37]
Chr9:9p24.3
uncertain significance
GRCh37/hg19 9p24.3(chr9:203861-289697)x3 copy number gain not provided [RCV000848636] Chr9:203861..289697 [GRCh37]
Chr9:9p24.3
uncertain significance
GRCh37/hg19 9p24.3(chr9:203861-228301)x1 copy number loss not provided [RCV000849318] Chr9:203861..228301 [GRCh37]
Chr9:9p24.3
uncertain significance
NC_000009.12:g.(?_214957)_(422155_?)del deletion Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive [RCV000802592] Chr9:214957..422155 [GRCh38]
Chr9:214957..422155 [GRCh37]
Chr9:9p24.3
pathogenic
GRCh37/hg19 9p24.3-q21.11(chr9:203861-70984588)x3 copy number gain not provided [RCV001006167] Chr9:203861..70984588 [GRCh37]
Chr9:9p24.3-q21.11
pathogenic
NC_000009.12:g.(?_214957)_(317148_?)dup duplication Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive [RCV001032028] Chr9:214957..317148 [GRCh37]
Chr9:9p24.3
uncertain significance
NC_000009.11:g.(?_214957)_(452137_?)dup duplication Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive [RCV000822557] Chr9:214957..452137 [GRCh38]
Chr9:214957..452137 [GRCh37]
Chr9:9p24.3
uncertain significance
GRCh37/hg19 9p24.3(chr9:203861-340662)x3 copy number gain not provided [RCV000845953] Chr9:203861..340662 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_203447.3:c.53+52T>G single nucleotide variant not provided [RCV000836148] Chr9:215081 [GRCh37]
Chr9:9p24.3
likely benign
NM_203447.3(DOCK8):c.53+28T>C single nucleotide variant not provided [RCV000832539] Chr9:215057 [GRCh38]
Chr9:215057 [GRCh37]
Chr9:9p24.3
benign
GRCh37/hg19 9p24.3(chr9:203861-259575)x3 copy number gain not provided [RCV000847553] Chr9:203861..259575 [GRCh37]
Chr9:9p24.3
uncertain significance
GRCh37/hg19 9p24.3(chr9:203861-273057)x3 copy number gain not provided [RCV000846400] Chr9:203861..273057 [GRCh37]
Chr9:9p24.3
uncertain significance
GRCh37/hg19 9p24.3-23(chr9:203861-11033228)x1 copy number loss not provided [RCV000848063] Chr9:203861..11033228 [GRCh37]
Chr9:9p24.3-23
pathogenic
GRCh37/hg19 9p24.3(chr9:203861-402280)x3 copy number gain not provided [RCV000847750] Chr9:203861..402280 [GRCh37]
Chr9:9p24.3
uncertain significance
GRCh37/hg19 9p24.3-22.1(chr9:203861-19448473)x3 copy number gain not provided [RCV000845664] Chr9:203861..19448473 [GRCh37]
Chr9:9p24.3-22.1
pathogenic
GRCh37/hg19 9p24.3(chr9:203861-1670196)x3 copy number gain not provided [RCV000846065] Chr9:203861..1670196 [GRCh37]
Chr9:9p24.3
uncertain significance
GRCh37/hg19 9p24.3(chr9:203861-402280)x3 copy number gain not provided [RCV000847081] Chr9:203861..402280 [GRCh37]
Chr9:9p24.3
uncertain significance
GRCh37/hg19 9p24.3(chr9:203861-399039)x1 copy number loss not provided [RCV000848189] Chr9:203861..399039 [GRCh37]
Chr9:9p24.3
uncertain significance
GRCh37/hg19 9p24.3(chr9:209753-236828)x1 copy number loss not provided [RCV000849181] Chr9:209753..236828 [GRCh37]
Chr9:9p24.3
uncertain significance
GRCh37/hg19 9p24.3(chr9:203861-417448)x1 copy number loss not provided [RCV000847745] Chr9:203861..417448 [GRCh37]
Chr9:9p24.3
uncertain significance
GRCh37/hg19 9p24.3(chr9:203861-561925)x3 copy number gain not provided [RCV000848898] Chr9:203861..561925 [GRCh37]
Chr9:9p24.3
uncertain significance
GRCh37/hg19 9p24.3(chr9:203861-302936)x3 copy number gain not provided [RCV000846480] Chr9:203861..302936 [GRCh37]
Chr9:9p24.3
uncertain significance
GRCh37/hg19 9p24.3(chr9:203861-309108)x1 copy number loss not provided [RCV000849400] Chr9:203861..309108 [GRCh37]
Chr9:9p24.3
uncertain significance
GRCh37/hg19 9p24.3(chr9:203861-289697)x3 copy number gain not provided [RCV000849984] Chr9:203861..289697 [GRCh37]
Chr9:9p24.3
uncertain significance
GRCh37/hg19 9p24.3(chr9:203861-521085)x3 copy number gain not provided [RCV000845978] Chr9:203861..521085 [GRCh37]
Chr9:9p24.3
uncertain significance
GRCh37/hg19 9p24.3(chr9:203861-518499)x3 copy number gain not provided [RCV000849515] Chr9:203861..518499 [GRCh37]
Chr9:9p24.3
uncertain significance
GRCh37/hg19 9p24.3(chr9:203861-355137)x3 copy number gain not provided [RCV000846289] Chr9:203861..355137 [GRCh37]
Chr9:9p24.3
uncertain significance
GRCh37/hg19 9p24.3(chr9:203861-258459)x1 copy number loss not provided [RCV000846446] Chr9:203861..258459 [GRCh37]
Chr9:9p24.3
uncertain significance
GRCh37/hg19 9p24.3(chr9:203861-573614)x3 copy number gain not provided [RCV000846466] Chr9:203861..573614 [GRCh37]
Chr9:9p24.3
uncertain significance
GRCh37/hg19 9p24.3(chr9:203861-450060)x3 copy number gain not provided [RCV000846936] Chr9:203861..450060 [GRCh37]
Chr9:9p24.3
uncertain significance
GRCh37/hg19 9p24.3(chr9:203861-360381)x4 copy number gain not provided [RCV000846964] Chr9:203861..360381 [GRCh37]
Chr9:9p24.3
uncertain significance
GRCh37/hg19 9p24.3(chr9:209753-236828)x1 copy number loss not provided [RCV000847034] Chr9:209753..236828 [GRCh37]
Chr9:9p24.3
uncertain significance
GRCh37/hg19 9p24.3(chr9:203861-355137)x4 copy number gain not provided [RCV000846570] Chr9:203861..355137 [GRCh37]
Chr9:9p24.3
uncertain significance
GRCh37/hg19 9p24.3(chr9:203861-289697)x3 copy number gain not provided [RCV000846962] Chr9:203861..289697 [GRCh37]
Chr9:9p24.3
uncertain significance
GRCh37/hg19 9p24.3(chr9:203861-388367)x1 copy number loss not provided [RCV000845817] Chr9:203861..388367 [GRCh37]
Chr9:9p24.3
uncertain significance
GRCh37/hg19 9p24.3(chr9:209753-246900)x1 copy number loss not provided [RCV000847055] Chr9:209753..246900 [GRCh37]
Chr9:9p24.3
uncertain significance
GRCh37/hg19 9p24.3-23(chr9:203861-11028975)x1 copy number loss not provided [RCV000848089] Chr9:203861..11028975 [GRCh37]
Chr9:9p24.3-23
pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-67986965)x3 copy number gain not provided [RCV000845815] Chr9:203861..67986965 [GRCh37]
Chr9:9p24.3-q13
pathogenic
GRCh37/hg19 9p24.3(chr9:203861-398309)x3 copy number gain not provided [RCV001006157] Chr9:203861..398309 [GRCh37]
Chr9:9p24.3
uncertain significance
NC_000009.12:g.(?_214957)_(396954_?)dup duplication Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive [RCV001032760] Chr9:214957..396954 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_203447.3(DOCK8):c.53+10C>T single nucleotide variant Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive [RCV001168672]|not provided [RCV000931154] Chr9:215039 [GRCh38]
Chr9:215039 [GRCh37]
Chr9:9p24.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NC_000009.12:g.(?_214957)_(368155_?)dup duplication Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive [RCV001033188] Chr9:214957..368155 [GRCh37]
Chr9:9p24.3
uncertain significance
NC_000009.12:g.(?_213865)_(466259_?)dup duplication Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive [RCV001033225] Chr9:213865..466259 [GRCh37]
Chr9:9p24.3
uncertain significance
NC_000009.12:g.(?_214957)_(304724_?)dup duplication Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive [RCV001032052] Chr9:214957..304724 [GRCh37]
Chr9:9p24.3
uncertain significance
GRCh37/hg19 9p24.3-23(chr9:203861-14103730)x1 copy number loss not provided [RCV001006165] Chr9:203861..14103730 [GRCh37]
Chr9:9p24.3-23
pathogenic
GRCh37/hg19 9p24.3(chr9:203861-584635)x3 copy number gain not provided [RCV001006158] Chr9:203861..584635 [GRCh37]
Chr9:9p24.3
uncertain significance
GRCh37/hg19 9p24.3(chr9:203861-1288574)x3 copy number gain not provided [RCV001006160] Chr9:203861..1288574 [GRCh37]
Chr9:9p24.3
uncertain significance
GRCh37/hg19 9p24.3(chr9:203861-567615)x1 copy number loss not provided [RCV001006161] Chr9:203861..567615 [GRCh37]
Chr9:9p24.3
pathogenic
GRCh37/hg19 9p24.3(chr9:203861-265340)x1 copy number loss not provided [RCV001006162] Chr9:203861..265340 [GRCh37]
Chr9:9p24.3
uncertain significance
GRCh37/hg19 9p24.3-23(chr9:203861-14080419)x1 copy number loss not provided [RCV001006166] Chr9:203861..14080419 [GRCh37]
Chr9:9p24.3-23
pathogenic
NC_000009.12:g.(?_214957)_(332498_?)dup duplication Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive [RCV001033656] Chr9:214957..332498 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_203447.4(DOCK8):c.24G>C (p.Glu8Asp) single nucleotide variant Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive [RCV001069266] Chr9:215000 [GRCh38]
Chr9:215000 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_203447.4(DOCK8):c.40C>T (p.Leu14Phe) single nucleotide variant Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive [RCV001059494] Chr9:215016 [GRCh38]
Chr9:215016 [GRCh37]
Chr9:9p24.3
uncertain significance
GRCh37/hg19 9p24.3-23(chr9:203861-10666419)x1 copy number loss not provided [RCV001006164] Chr9:203861..10666419 [GRCh37]
Chr9:9p24.3-23
pathogenic
GRCh37/hg19 9p24.3(chr9:203861-499996)x1 copy number loss not provided [RCV001260087] Chr9:203861..499996 [GRCh37]
Chr9:9p24.3
pathogenic
GRCh37/hg19 9p24.3(chr9:204193-340142) copy number gain Autistic disorder of childhood onset [RCV001291967] Chr9:204193..340142 [GRCh37]
Chr9:9p24.3
pathogenic
GRCh37/hg19 9p24.3-24.2(chr9:204090-2430905)x1 copy number loss See cases [RCV001263053] Chr9:204090..2430905 [GRCh37]
Chr9:9p24.3-24.2
pathogenic
GRCh37/hg19 9p24.3-22.2(chr9:204193-18073357)x1 copy number loss Chromosome 9p deletion syndrome [RCV001263225] Chr9:204193..18073357 [GRCh37]
Chr9:9p24.3-22.2
pathogenic
NC_000009.11:g.(?_214977)_(215049_?)dup duplication Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive [RCV001301565] Chr9:214977..215049 [GRCh37]
Chr9:9p24.3
uncertain significance
NC_000009.11:g.(?_214957)_(368155_?)dup duplication Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive [RCV001301566] Chr9:214957..368155 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_203447.4(DOCK8):c.17G>T (p.Ser6Ile) single nucleotide variant Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive [RCV001338945] Chr9:214993 [GRCh38]
Chr9:214993 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_203447.4(DOCK8):c.22G>A (p.Glu8Lys) single nucleotide variant Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive [RCV001313445] Chr9:214998 [GRCh38]
Chr9:214998 [GRCh37]
Chr9:9p24.3
uncertain significance
NC_000009.11:g.(?_214977)_(289601_?)dup duplication Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive [RCV001315381] Chr9:214977..289601 [GRCh37]
Chr9:9p24.3
uncertain significance
NC_000009.11:g.(?_214957)_(332498_?)dup duplication Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive [RCV001315379] Chr9:214957..332498 [GRCh37]
Chr9:9p24.3
uncertain significance
GRCh37/hg19 9p24.3-22.1(chr9:204193-18654812) copy number loss Trigonocephaly [RCV001352660] Chr9:204193..18654812 [GRCh37]
Chr9:9p24.3-22.1
pathogenic
NC_000009.11:g.(?_214977)_(215049_?)del deletion Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive [RCV001382639] Chr9:214977..215049 [GRCh37]
Chr9:9p24.3
pathogenic
NC_000009.11:g.(?_214957)_(286656_?)del deletion Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive [RCV001382640] Chr9:214957..286656 [GRCh37]
Chr9:9p24.3
pathogenic
NM_203447.4(DOCK8):c.53+262G>C single nucleotide variant Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive [RCV001332036] Chr9:215291 [GRCh38]
Chr9:215291 [GRCh37]
Chr9:9p24.3
uncertain significance
NC_000009.11:g.(?_214977)_(340331_?)dup duplication Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive [RCV001360871] Chr9:214977..340331 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_203447.4(DOCK8):c.4G>A (p.Ala2Thr) single nucleotide variant Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive [RCV001341909] Chr9:214980 [GRCh38]
Chr9:214980 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_203447.4(DOCK8):c.2T>C (p.Met1Thr) single nucleotide variant Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive [RCV001364837] Chr9:214978 [GRCh38]
Chr9:214978 [GRCh37]
Chr9:9p24.3
uncertain significance
NC_000009.11:g.(?_214957)_(422155_?)dup duplication Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive [RCV001301567] Chr9:214957..422155 [GRCh37]
Chr9:9p24.3
uncertain significance
NC_000009.11:g.(?_214957)_(312186_?)dup duplication Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive [RCV001301568] Chr9:214957..312186 [GRCh37]
Chr9:9p24.3
uncertain significance
NC_000009.11:g.(?_214957)_(286656_?)dup duplication Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive [RCV001360872] Chr9:214957..286656 [GRCh37]
Chr9:9p24.3
uncertain significance
NC_000009.11:g.(?_214977)_(464219_?)dup duplication Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive [RCV001341444] Chr9:214977..464219 [GRCh37]
Chr9:9p24.3
uncertain significance
NC_000009.11:g.(?_214977)_(399279_?)dup duplication Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive [RCV001341445] Chr9:214977..399279 [GRCh37]
Chr9:9p24.3
uncertain significance
NC_000009.11:g.(?_214957)_(317148_?)dup duplication Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive [RCV001315382] Chr9:214957..317148 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_203447.4(DOCK8):c.37G>C (p.Ala13Pro) single nucleotide variant Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive [RCV001370761] Chr9:215013 [GRCh38]
Chr9:215013 [GRCh37]
Chr9:9p24.3
uncertain significance
NC_000009.11:g.(?_214977)_(271749_?)dup duplication Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive [RCV001315380] Chr9:214977..271749 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_203447.4(DOCK8):c.36C>G (p.Phe12Leu) single nucleotide variant Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive [RCV001410415] Chr9:215012 [GRCh38]
Chr9:215012 [GRCh37]
Chr9:9p24.3
likely benign
NC_000009.11:g.(?_214977)_(464219_?)del deletion Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive [RCV001390235] Chr9:214977..464219 [GRCh37]
Chr9:9p24.3
pathogenic
NM_203447.4(DOCK8):c.27C>G (p.Arg9=) single nucleotide variant Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive [RCV001504660] Chr9:215003 [GRCh38]
Chr9:215003 [GRCh37]
Chr9:9p24.3
likely benign
NM_203447.4(DOCK8):c.8C>G (p.Thr3Ser) single nucleotide variant Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive [RCV001515333] Chr9:214984 [GRCh38]
Chr9:214984 [GRCh37]
Chr9:9p24.3
benign
NM_203447.4(DOCK8):c.53+14del deletion Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive [RCV001515913] Chr9:215038 [GRCh38]
Chr9:215038 [GRCh37]
Chr9:9p24.3
benign

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:26436 AgrOrtholog
COSMIC DOCK8-AS1 COSMIC
Ensembl Genes ENSG00000183784 Ensembl, ENTREZGENE
Ensembl Transcript ENST00000382387 ENTREZGENE
GTEx ENSG00000183784 GTEx
HGNC ID HGNC:26436 ENTREZGENE
Human Proteome Map DOCK8-AS1 Human Proteome Map
InterPro DUF5555 UniProtKB/Swiss-Prot
NCBI Gene 157983 ENTREZGENE
Pfam DUF5555 UniProtKB/Swiss-Prot
PharmGKB PA134953147 PharmGKB
RNAcentral URS0000E60B54 RNACentral
UniProt CI066_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary Q96NB0 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2019-04-09 DOCK8-AS1  DOCK8 antisense RNA 1  C9orf66  chromosome 9 open reading frame 66  Symbol and/or name change 5135510 APPROVED