SHROOM4 (shroom family member 4) - Rat Genome Database

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Gene: SHROOM4 (shroom family member 4) Homo sapiens
Analyze
Symbol: SHROOM4
Name: shroom family member 4
RGD ID: 1606521
HGNC Page HGNC
Description: Predicted to have actin filament binding activity and myosin II binding activity. Involved in brain development and cognition. Localizes to several cellular components, including actin filament; cytoplasmic side of plasma membrane; and focal adhesion. Predicted to colocalize with stress fiber. Implicated in Stocco Dos Santos type X-linked intellectual disability.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: KIAA1202; second homolog of apical protein; SHAP; shrm4
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX50,591,642 - 50,814,302 (-)EnsemblGRCh38hg38GRCh38
GRCh38.p13 EnsemblX50,591,647 - 50,814,302 (-)EnsemblGRCh38hg38GRCh38
GRCh38X50,575,534 - 50,814,194 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X50,334,642 - 50,557,194 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X50,351,387 - 50,573,784 (-)NCBINCBI36hg18NCBI36
CeleraX54,378,231 - 54,600,597 (-)NCBI
Cytogenetic MapXp11.22NCBI
HuRefX47,778,364 - 48,000,648 (-)NCBIHuRef
CHM1_1X50,414,359 - 50,636,708 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Molecular Function

References

Additional References at PubMed
PMID:10574462   PMID:10737800   PMID:12477932   PMID:12673656   PMID:14702039   PMID:16249884   PMID:16615870   PMID:16684770   PMID:18029348   PMID:21873635   PMID:26354767   PMID:28262662  
PMID:30349055  


Genomics

Comparative Map Data
SHROOM4
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX50,591,642 - 50,814,302 (-)EnsemblGRCh38hg38GRCh38
GRCh38.p13 EnsemblX50,591,647 - 50,814,302 (-)EnsemblGRCh38hg38GRCh38
GRCh38X50,575,534 - 50,814,194 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X50,334,642 - 50,557,194 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X50,351,387 - 50,573,784 (-)NCBINCBI36hg18NCBI36
CeleraX54,378,231 - 54,600,597 (-)NCBI
Cytogenetic MapXp11.22NCBI
HuRefX47,778,364 - 48,000,648 (-)NCBIHuRef
CHM1_1X50,414,359 - 50,636,708 (-)NCBICHM1_1
Shroom4
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X6,312,012 - 6,549,508 (+)NCBIGRCm39mm39
GRCm39 EnsemblX6,311,908 - 6,549,502 (+)Ensembl
GRCm38X6,399,949 - 6,637,454 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX6,399,854 - 6,637,448 (+)EnsemblGRCm38mm10GRCm38
MGSCv37X5,977,263 - 6,210,835 (+)NCBIGRCm37mm9NCBIm37
MGSCv36X5,575,508 - 5,812,930 (+)NCBImm8
CeleraX4,778,748 - 5,011,260 (-)NCBICelera
Cytogenetic MapXA1.1NCBI
Shroom4
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2X15,869,065 - 16,076,850 (-)NCBI
Rnor_6.0 EnsemblX16,719,803 - 16,929,907 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0X16,723,360 - 16,929,829 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0X17,500,772 - 17,711,666 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X29,125,307 - 29,334,579 (+)NCBIRGSC3.4rn4RGSC3.4
CeleraX15,939,398 - 16,146,959 (-)NCBICelera
Cytogenetic MapXq12NCBI
Shroom4
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_0049555431,810,125 - 2,046,144 (-)NCBIChiLan1.0ChiLan1.0
SHROOM4
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1X50,464,617 - 50,568,075 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX50,464,824 - 50,687,221 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0X42,673,968 - 42,974,947 (-)NCBIMhudiblu_PPA_v0panPan3
SHROOM4
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X43,366,921 - 43,639,525 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX43,369,472 - 43,639,302 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaX17,743,343 - 18,016,771 (-)NCBI
ROS_Cfam_1.0X43,486,469 - 43,759,942 (-)NCBI
UMICH_Zoey_3.1X43,490,284 - 43,763,685 (-)NCBI
UNSW_CanFamBas_1.0X43,478,265 - 43,751,712 (-)NCBI
UU_Cfam_GSD_1.0X43,573,217 - 43,846,683 (-)NCBI
Shroom4
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X35,828,330 - 36,037,677 (-)NCBI
SpeTri2.0NW_0049367212,068,731 - 2,166,537 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SHROOM4
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX44,302,074 - 44,543,549 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X44,301,956 - 44,543,969 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X49,298,058 - 49,474,957 (-)NCBISscrofa10.2Sscrofa10.2susScr3
SHROOM4
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X47,392,156 - 47,618,816 (-)NCBI
ChlSab1.1 EnsemblX47,397,570 - 47,616,973 (-)Ensembl
Shroom4
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248932,373,847 - 2,660,122 (-)NCBI

Position Markers
DXS8023  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X50,353,304 - 50,353,435UniSTSGRCh37
Build 36X50,370,044 - 50,370,175RGDNCBI36
CeleraX54,396,892 - 54,397,023RGD
Cytogenetic MapXp11.22UniSTS
HuRefX47,796,935 - 47,797,066UniSTS
Marshfield Genetic MapX51.78UniSTS
Marshfield Genetic MapX51.78RGD
Genethon Genetic MapX84.9UniSTS
TNG Radiation Hybrid MapX12962.0UniSTS
deCODE Assembly MapX75.79UniSTS
GeneMap99-GB4 RH MapX151.88UniSTS
Whitehead-YAC Contig MapX UniSTS
AFM308zg9  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X50,486,083 - 50,486,312UniSTSGRCh37
Build 36X50,502,823 - 50,503,052RGDNCBI36
CeleraX54,529,688 - 54,529,913RGD
Cytogenetic MapXp11.22UniSTS
HuRefX47,929,440 - 47,929,665UniSTS
Whitehead-RH MapX73.4UniSTS
Whitehead-YAC Contig MapX UniSTS
NCBI RH MapX211.1UniSTS
DXS6824  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X50,546,896 - 50,547,131UniSTSGRCh37
Build 36X50,563,636 - 50,563,871RGDNCBI36
CeleraX54,590,448 - 54,590,683RGD
Cytogenetic MapXp11.22UniSTS
HuRefX47,990,548 - 47,990,783UniSTS
Whitehead-YAC Contig MapX UniSTS
L77314  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X50,409,120 - 50,409,363UniSTSGRCh37
Build 36X50,425,860 - 50,426,103RGDNCBI36
CeleraX54,452,705 - 54,452,948RGD
Cytogenetic MapXp11.22UniSTS
HuRefX47,852,249 - 47,852,492UniSTS
sWXD1434  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X50,421,676 - 50,421,817UniSTSGRCh37
Build 36X50,438,416 - 50,438,557RGDNCBI36
CeleraX54,465,261 - 54,465,402RGD
Cytogenetic MapXp11.22UniSTS
HuRefX47,864,742 - 47,864,883UniSTS
L77293  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X50,433,092 - 50,433,176UniSTSGRCh37
Build 36X50,449,832 - 50,449,916RGDNCBI36
CeleraX54,476,677 - 54,476,761RGD
Cytogenetic MapXp11.22UniSTS
HuRefX47,876,058 - 47,876,142UniSTS
L77286  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X50,464,095 - 50,464,157UniSTSGRCh37
Build 36X50,480,835 - 50,480,897RGDNCBI36
CeleraX54,507,702 - 54,507,764RGD
Cytogenetic MapXp11.22UniSTS
HuRefX47,907,466 - 47,907,528UniSTS
DXS8372  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X50,552,073 - 50,552,161UniSTSGRCh37
Build 36X50,568,813 - 50,568,901RGDNCBI36
CeleraX54,595,625 - 54,595,713RGD
Cytogenetic MapXp11.22UniSTS
HuRefX47,995,673 - 47,995,761UniSTS
DXS1184  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X50,537,549 - 50,537,724UniSTSGRCh37
Build 36X50,554,289 - 50,554,464RGDNCBI36
CeleraX54,581,148 - 54,581,325RGD
Cytogenetic MapXp11.22UniSTS
HuRefX47,980,849 - 47,981,026UniSTS
DXS7045  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X50,494,921 - 50,495,072UniSTSGRCh37
Build 36X50,511,661 - 50,511,812RGDNCBI36
CeleraX54,538,522 - 54,538,673RGD
Cytogenetic MapXp11.22UniSTS
HuRefX47,938,274 - 47,938,425UniSTS
Whitehead-RH MapX61.4UniSTS
Whitehead-YAC Contig MapX UniSTS
DXS1186  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X50,514,939 - 50,515,303UniSTSGRCh37
Build 36X50,531,679 - 50,532,043RGDNCBI36
CeleraX54,558,541 - 54,558,901RGD
Cytogenetic MapXp11.22UniSTS
HuRefX47,958,254 - 47,958,614UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:8203
Count of miRNA genes:1471
Interacting mature miRNAs:1988
Transcripts:ENST00000289292, ENST00000376020, ENST00000460112, ENST00000483955, ENST00000484922
Prediction methods:Miranda, Pita, 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.


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 54 49 114 2 4 2 485 33 222 80 79 650 625 43 1
Low 2291 2253 1371 395 621 235 3851 2134 3399 315 1310 802 170 1 579 2735 5 2
Below cutoff 42 681 226 218 812 219 16 20 93 17 35 42 5 10

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_011882 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_020717 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_027121 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_172068 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_172069 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_172070 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029682 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029683 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029684 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029685 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029686 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029687 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001755716 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001755717 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001755718 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB033028 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC233286 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK092659 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK127486 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL121865 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL359272 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL445491 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY044234 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC151240 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI018520 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471180 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000289292   ⟹   ENSP00000289292
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX50,591,647 - 50,814,302 (-)Ensembl
RefSeq Acc Id: ENST00000376020   ⟹   ENSP00000365188
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX50,591,647 - 50,814,044 (-)Ensembl
RefSeq Acc Id: ENST00000460112   ⟹   ENSP00000421450
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX50,592,365 - 50,643,683 (-)Ensembl
RefSeq Acc Id: ENST00000483955
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX50,591,695 - 50,596,237 (-)Ensembl
RefSeq Acc Id: ENST00000484922
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX50,687,039 - 50,695,937 (-)Ensembl
RefSeq Acc Id: NM_020717   ⟹   NP_065768
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X50,591,642 - 50,814,194 (-)NCBI
GRCh37X50,334,642 - 50,557,044 (-)RGD
Build 36X50,351,387 - 50,573,784 (-)NCBI Archive
CeleraX54,378,231 - 54,600,597 (-)RGD
HuRefX47,778,364 - 48,000,648 (-)ENTREZGENE
CHM1_1X50,414,359 - 50,636,708 (-)NCBI
Sequence:
RefSeq Acc Id: NR_027121
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X50,591,642 - 50,814,194 (-)NCBI
GRCh37X50,334,642 - 50,557,044 (-)RGD
CeleraX54,378,231 - 54,600,597 (-)RGD
HuRefX47,778,364 - 48,000,648 (-)ENTREZGENE
CHM1_1X50,414,359 - 50,636,708 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017029682   ⟹   XP_016885171
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X50,593,318 - 50,814,149 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017029683   ⟹   XP_016885172
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X50,593,318 - 50,814,150 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017029684   ⟹   XP_016885173
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X50,593,318 - 50,643,725 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017029685   ⟹   XP_016885174
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X50,598,294 - 50,814,164 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017029686   ⟹   XP_016885175
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X50,593,318 - 50,643,725 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017029687   ⟹   XP_016885176
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X50,626,827 - 50,814,150 (-)NCBI
Sequence:
RefSeq Acc Id: XR_001755716
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X50,591,956 - 50,814,149 (-)NCBI
Sequence:
RefSeq Acc Id: XR_001755717
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X50,583,026 - 50,814,149 (-)NCBI
Sequence:
RefSeq Acc Id: XR_001755718
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X50,575,534 - 50,814,149 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_065768   ⟸   NM_020717
- UniProtKB: Q9ULL8 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016885172   ⟸   XM_017029683
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_016885171   ⟸   XM_017029682
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_016885175   ⟸   XM_017029686
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: XP_016885173   ⟸   XM_017029684
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_016885174   ⟸   XM_017029685
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_016885176   ⟸   XM_017029687
- Peptide Label: isoform X6
- Sequence:
RefSeq Acc Id: ENSP00000365188   ⟸   ENST00000376020
RefSeq Acc Id: ENSP00000289292   ⟸   ENST00000289292
RefSeq Acc Id: ENSP00000421450   ⟸   ENST00000460112
Protein Domains
ASD2   PDZ

Promoters
RGD ID:13605326
Promoter ID:EPDNEW_H28847
Type:initiation region
Name:SHROOM4_1
Description:shroom family member 4
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X50,814,220 - 50,814,280EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_020717.3(SHROOM4):c.4303G>T (p.Val1435Leu) single nucleotide variant not provided [RCV000519870] ChrX:50596874 [GRCh38]
ChrX:50339874 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_020717.3(SHROOM4):c.325G>A (p.Gly109Arg) single nucleotide variant not provided [RCV000728365] ChrX:50638253 [GRCh38]
ChrX:50381253 [GRCh37]
ChrX:Xp11.22
uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x3 copy number gain See cases [RCV000133911] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|likely pathogenic|conflicting data from submitters
NM_020717.3(SHROOM4):c.3266C>T (p.Ser1089Leu) single nucleotide variant Stocco dos Santos syndrome [RCV000011542] ChrX:50607876 [GRCh38]
ChrX:50350876 [GRCh37]
ChrX:Xp11.22
pathogenic
NM_020717.3(SHROOM4):c.118-22113G>T single nucleotide variant Lung cancer [RCV000102631] ChrX:50718050 [GRCh38]
ChrX:50461050 [GRCh37]
ChrX:Xp11.22
uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x3 copy number gain See cases [RCV000050810] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:3092486-155699618)x2 copy number gain See cases [RCV000050889] ChrX:3092486..155699618 [GRCh38]
ChrX:3010527..154929279 [GRCh37]
ChrX:3020527..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x1 copy number loss See cases [RCV000050811] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss Global developmental delay [RCV000050386]|See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000050697] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000050699] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp22.33-11.22(chrX:10679-52809182)x1 copy number loss See cases [RCV000051026] ChrX:10679..52809182 [GRCh38]
ChrX:60679..52838206 [GRCh37]
ChrX:679..52854931 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp11.23-11.22(chrX:50086006-54030240)x1 copy number loss See cases [RCV000051663] ChrX:50086006..54030240 [GRCh38]
ChrX:49850663..53957191 [GRCh37]
ChrX:49737403..54073398 [NCBI36]
ChrX:Xp11.23-11.22
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26101-155999293)x3 copy number gain See cases [RCV000052322] ChrX:26101..155999293 [GRCh38]
ChrX:76101..155228958 [GRCh37]
ChrX:16101..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2790845-155699618)x3 copy number gain See cases [RCV000052359] ChrX:2790845..155699618 [GRCh38]
ChrX:2708886..154929279 [GRCh37]
ChrX:2718886..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:237659-156022362)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|See cases [RCV000052327] ChrX:237659..156022362 [GRCh38]
ChrX:154326..155252027 [GRCh37]
ChrX:94326..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:27245-155996431)x3 copy number gain See cases [RCV000052324] ChrX:27245..155996431 [GRCh38]
ChrX:77245..155226096 [GRCh37]
ChrX:17245..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40704-156022362)x3 copy number gain See cases [RCV000052325] ChrX:40704..156022362 [GRCh38]
ChrX:90704..155252027 [GRCh37]
ChrX:30704..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp11.23-11.22(chrX:47859417-52789530)x3 copy number gain See cases [RCV000052390] ChrX:47859417..52789530 [GRCh38]
ChrX:47835880..52818575 [GRCh37]
ChrX:47603760..52835300 [NCBI36]
ChrX:Xp11.23-11.22
pathogenic
GRCh38/hg38 Xp11.23-11.22(chrX:48344666-52664916)x2 copy number gain See cases [RCV000051992] ChrX:48344666..52664916 [GRCh38]
ChrX:48204101..52616581 [GRCh37]
ChrX:48089045..52710691 [NCBI36]
ChrX:Xp11.23-11.22
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss Global developmental delay [RCV000052986]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|Intellectual functioning disability [RCV000052988]|Global developmental delay [RCV000052989]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q22.1(chrX:675360-100368517)x1 copy number loss See cases [RCV000053005] ChrX:675360..100368517 [GRCh38]
ChrX:636095..99623515 [GRCh37]
ChrX:556095..99510171 [NCBI36]
ChrX:Xp22.33-q22.1
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss Hypoplastic left heart [RCV000052982]|See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:26102-57302794)x1 copy number loss See cases [RCV000052990] ChrX:26102..57302794 [GRCh38]
ChrX:76102..57329227 [GRCh37]
ChrX:16102..57345952 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:2769041-58055036)x1 copy number loss See cases [RCV000053007] ChrX:2769041..58055036 [GRCh38]
ChrX:2687082..58081470 [GRCh37]
ChrX:2697082..58098195 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-11.1(chrX:253129-58271563)x1 copy number loss See cases [RCV000052994] ChrX:253129..58271563 [GRCh38]
ChrX:169796..58297997 [GRCh37]
ChrX:109796..58314722 [NCBI36]
ChrX:Xp22.33-11.1
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:10679-55550898)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052971]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052971]|See cases [RCV000052971] ChrX:10679..55550898 [GRCh38]
ChrX:60679..55577331 [GRCh37]
ChrX:679..55594056 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain Global developmental delay [RCV000052984]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10479-54179172)x3 copy number gain See cases [RCV000053817] ChrX:10479..54179172 [GRCh38]
ChrX:60479..53957191 [GRCh37]
ChrX:479..54222330 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
NM_020717.3(SHROOM4):c.1100T>C (p.Val367Ala) single nucleotide variant not provided [RCV000082022] ChrX:50634973 [GRCh38]
ChrX:50377973 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_020717.3(SHROOM4):c.3168T>C (p.Arg1056=) single nucleotide variant not specified [RCV000082023] ChrX:50607974 [GRCh38]
ChrX:50350974 [GRCh37]
ChrX:Xp11.22
benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_020717.3(SHROOM4):c.3372_3383dup (p.Gln1125_Gln1128dup) duplication not specified [RCV000082024] ChrX:50607758..50607759 [GRCh38]
ChrX:50350758..50350759 [GRCh37]
ChrX:Xp11.22
benign
NM_020717.3(SHROOM4):c.3393_3395GGA[8] (p.Glu1151dup) microsatellite not specified [RCV000082025] ChrX:50607728..50607729 [GRCh38]
ChrX:50350728..50350729 [GRCh37]
ChrX:Xp11.22
benign
NM_020717.3(SHROOM4):c.3414A>G (p.Glu1138=) single nucleotide variant History of neurodevelopmental disorder [RCV000720932]|not specified [RCV000082026] ChrX:50607728 [GRCh38]
ChrX:50350728 [GRCh37]
ChrX:Xp11.22
benign
NM_020717.3(SHROOM4):c.3468A>G (p.Glu1156=) single nucleotide variant not specified [RCV000082027] ChrX:50607674 [GRCh38]
ChrX:50350674 [GRCh37]
ChrX:Xp11.22
benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_020717.3(SHROOM4):c.4101G>T (p.Leu1367Phe) single nucleotide variant History of neurodevelopmental disorder [RCV000720967]|not provided [RCV000224335]|not specified [RCV000082028] ChrX:50598377 [GRCh38]
ChrX:50341377 [GRCh37]
ChrX:Xp11.22
benign
NM_020717.3(SHROOM4):c.3415dupG (p.Glu1139Glyfs) duplication not provided [RCV000118344] ChrX:50607727 [GRCh38]
ChrX:50350727 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_020717.3(SHROOM4):c.1627A>T (p.Thr543Ser) single nucleotide variant History of neurodevelopmental disorder [RCV000721008]|not provided [RCV000955610]|not specified [RCV000118345] ChrX:50634446 [GRCh38]
ChrX:50377446 [GRCh37]
ChrX:Xp11.22
benign|likely benign
NM_020717.3(SHROOM4):c.1879C>T (p.Pro627Ser) single nucleotide variant History of neurodevelopmental disorder [RCV000720972]|not specified [RCV000118346] ChrX:50634194 [GRCh38]
ChrX:50377194 [GRCh37]
ChrX:Xp11.22
likely benign|uncertain significance
NM_020717.3(SHROOM4):c.3413_3414insGG (p.Glu1140Lysfs) insertion not provided [RCV000118347] ChrX:50607728..50607729 [GRCh38]
ChrX:50350728..50350729 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_020717.3(SHROOM4):c.3611A>G (p.Glu1204Gly) single nucleotide variant History of neurodevelopmental disorder [RCV000720943]|Intellectual disability [RCV001251639]|not provided [RCV000118348] ChrX:50607531 [GRCh38]
ChrX:50350531 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_020717.3(SHROOM4):c.3734C>T (p.Ser1245Leu) single nucleotide variant History of neurodevelopmental disorder [RCV000721028]|not specified [RCV000118349] ChrX:50607408 [GRCh38]
ChrX:50350408 [GRCh37]
ChrX:Xp11.22
benign|likely benign|conflicting interpretations of pathogenicity
NM_020717.3(SHROOM4):c.3944T>C (p.Ile1315Thr) single nucleotide variant Intellectual disability [RCV001251638]|not provided [RCV000118350] ChrX:50598534 [GRCh38]
ChrX:50341534 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_020717.3(SHROOM4):c.439C>T (p.His147Tyr) single nucleotide variant History of neurodevelopmental disorder [RCV000721005]|not provided [RCV000955611]|not specified [RCV000118351] ChrX:50635634 [GRCh38]
ChrX:50378634 [GRCh37]
ChrX:Xp11.22
benign|likely benign
NM_020717.3(SHROOM4):c.96T>C (p.Cys32=) single nucleotide variant not specified [RCV000118352] ChrX:50813923 [GRCh38]
ChrX:50556923 [GRCh37]
ChrX:Xp11.22
benign|likely benign
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022826)x4 copy number gain See cases [RCV000133654] ChrX:10679..156022826 [GRCh38]
ChrX:60679..155252491 [GRCh37]
ChrX:679..154905685 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
Single allele duplication not specified [RCV000179514] ChrX:50607728..50607729 [GRCh38]
ChrX:50350729..50350730 [GRCh37]
ChrX:Xp11.22
benign
GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x3 copy number gain See cases [RCV000239834] ChrX:70297..58066465 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10701-52857805)x1 copy number loss See cases [RCV000133817] ChrX:10701..52857805 [GRCh38]
ChrX:60701..52886834 [GRCh37]
ChrX:701..52903559 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-155978689)x1 copy number loss See cases [RCV000133792] ChrX:10701..155978689 [GRCh38]
ChrX:60701..155208354 [GRCh37]
ChrX:701..154861548 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:4245..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-155999253)x3 copy number gain See cases [RCV000134564] ChrX:20297..155999253 [GRCh38]
ChrX:70297..155228918 [GRCh37]
ChrX:10297..154882112 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q11.1(chrX:10701-62712219)x1 copy number loss See cases [RCV000134568] ChrX:10701..62712219 [GRCh38]
ChrX:60701..61931689 [GRCh37]
ChrX:701..61848414 [NCBI36]
ChrX:Xp22.33-q11.1
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:10701-58055053)x1 copy number loss See cases [RCV000134026] ChrX:10701..58055053 [GRCh38]
ChrX:60701..58081487 [GRCh37]
ChrX:701..58098212 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp11.22(chrX:50653976-50865326)x3 copy number gain See cases [RCV000133946] ChrX:50653976..50865326 [GRCh38]
ChrX:50413716..50625066 [NCBI36]
ChrX:Xp11.22
uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x1 copy number loss See cases [RCV000133947] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp21.1-q28(chrX:37076284-156016920)x1 copy number loss See cases [RCV000135300] ChrX:37076284..156016920 [GRCh38]
ChrX:37094357..155246585 [GRCh37]
ChrX:37004278..154899779 [NCBI36]
ChrX:Xp21.1-q28
pathogenic
GRCh38/hg38 Xp22.31-11.22(chrX:8176030-53962833)x1 copy number loss See cases [RCV000135305] ChrX:8176030..53962833 [GRCh38]
ChrX:8144071..53989266 [GRCh37]
ChrX:8104071..54005991 [NCBI36]
ChrX:Xp22.31-11.22
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156026127)x1 copy number loss See cases [RCV000135321] ChrX:20297..156026127 [GRCh38]
ChrX:70297..155255792 [GRCh37]
ChrX:10297..154908986 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp11.3-11.22(chrX:43361870-50931794)x3 copy number gain See cases [RCV000134956] ChrX:43361870..50931794 [GRCh38]
ChrX:43221119..50674794 [GRCh37]
ChrX:43106063..50691534 [NCBI36]
ChrX:Xp11.3-11.22
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10679-52857805)x3 copy number gain See cases [RCV000134957] ChrX:10679..52857805 [GRCh38]
ChrX:60679..52886834 [GRCh37]
ChrX:679..52903559 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp11.23-11.22(chrX:48022053-52664916)x3 copy number gain See cases [RCV000135801] ChrX:48022053..52664916 [GRCh38]
ChrX:47881447..52616581 [GRCh37]
ChrX:47766391..52710691 [NCBI36]
ChrX:Xp11.23-11.22
pathogenic|uncertain significance
GRCh38/hg38 Xp21.1-q28(chrX:36237706-156022206)x1 copy number loss See cases [RCV000135552] ChrX:36237706..156022206 [GRCh38]
ChrX:36255823..155251871 [GRCh37]
ChrX:36165744..154905065 [NCBI36]
ChrX:Xp21.1-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x1 copy number loss See cases [RCV000136097] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40904-155998166)x1 copy number loss See cases [RCV000136478] ChrX:40904..155998166 [GRCh38]
ChrX:90904..155227831 [GRCh37]
ChrX:30904..154881025 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q25(chrX:10701-128393708) copy number loss See cases [RCV000136094] ChrX:10701..128393708 [GRCh38]
ChrX:60701..127527686 [GRCh37]
ChrX:701..127355367 [NCBI36]
ChrX:Xp22.33-q25
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10001-156030895)x1 copy number loss See cases [RCV000136005] ChrX:10001..156030895 [GRCh38]
ChrX:60001..155260560 [GRCh37]
ChrX:1..154913754 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp11.23-11.21(chrX:48344666-58055036)x3 copy number gain See cases [RCV000135958] ChrX:48344666..58055036 [GRCh38]
ChrX:48204101..58081470 [GRCh37]
ChrX:48089045..58098195 [NCBI36]
ChrX:Xp11.23-11.21
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10679-52213731)x1 copy number loss See cases [RCV000137112] ChrX:10679..52213731 [GRCh38]
ChrX:60679..51948998 [GRCh37]
ChrX:679..51973598 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic|uncertain significance
GRCh38/hg38 Xp11.23-11.22(chrX:48260861-52664916)x2 copy number gain See cases [RCV000136829] ChrX:48260861..52664916 [GRCh38]
ChrX:48120296..52616581 [GRCh37]
ChrX:48005240..52710691 [NCBI36]
ChrX:Xp11.23-11.22
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2765636-155522304)x3 copy number gain See cases [RCV000136791] ChrX:2765636..155522304 [GRCh38]
ChrX:2683677..154751965 [GRCh37]
ChrX:2693677..154405159 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2782275-155611794)x2 copy number gain See cases [RCV000136841] ChrX:2782275..155611794 [GRCh38]
ChrX:2700316..154785891 [GRCh37]
ChrX:2710316..154494649 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10701-52033734)x1 copy number loss See cases [RCV000137430] ChrX:10701..52033734 [GRCh38]
ChrX:60701..51776830 [GRCh37]
ChrX:701..51793570 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:10701-58055036)x1 copy number loss See cases [RCV000137552] ChrX:10701..58055036 [GRCh38]
ChrX:60701..58081470 [GRCh37]
ChrX:701..58098195 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp11.23-q22.1(chrX:49100536-102174742)x1 copy number loss See cases [RCV000137414] ChrX:49100536..102174742 [GRCh38]
ChrX:48957474..101429714 [GRCh37]
ChrX:48844418..101316370 [NCBI36]
ChrX:Xp11.23-q22.1
pathogenic|likely benign
GRCh38/hg38 Xp22.33-q13.3(chrX:10679-76420505)x3 copy number gain See cases [RCV000137137] ChrX:10679..76420505 [GRCh38]
ChrX:60679..75640898 [GRCh37]
ChrX:679..75557302 [NCBI36]
ChrX:Xp22.33-q13.3
pathogenic|likely benign
GRCh38/hg38 Xp11.23-11.22(chrX:48429509-52664916)x3 copy number gain See cases [RCV000138106] ChrX:48429509..52664916 [GRCh38]
ChrX:48287896..52616581 [GRCh37]
ChrX:48172840..52710691 [NCBI36]
ChrX:Xp11.23-11.22
pathogenic|likely pathogenic
GRCh38/hg38 Xp11.23-11.22(chrX:48429509-52664916)x1 copy number loss See cases [RCV000138107] ChrX:48429509..52664916 [GRCh38]
ChrX:48287896..52693966 [GRCh37]
ChrX:48172840..52710691 [NCBI36]
ChrX:Xp11.23-11.22
pathogenic
GRCh38/hg38 Xp22.33-q22.3(chrX:10701-106113403)x1 copy number loss See cases [RCV000137886] ChrX:10701..106113403 [GRCh38]
ChrX:60701..105357395 [GRCh37]
ChrX:701..105244051 [NCBI36]
ChrX:Xp22.33-q22.3
pathogenic
GRCh38/hg38 Xp22.2-q27.3(chrX:13020141-143473520)x1 copy number loss See cases [RCV000138678] ChrX:13020141..143473520 [GRCh38]
ChrX:13038260..142561303 [GRCh37]
ChrX:12948181..142388969 [NCBI36]
ChrX:Xp22.2-q27.3
pathogenic
GRCh38/hg38 Xp22.33-11.1(chrX:10701-58517661)x1 copy number loss See cases [RCV000139343] ChrX:10701..58517661 [GRCh38]
ChrX:60701..58544094 [GRCh37]
ChrX:701..58560819 [NCBI36]
ChrX:Xp22.33-11.1
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:1085618-155699644)x1 copy number loss See cases [RCV000139278] ChrX:1085618..155699644 [GRCh38]
ChrX:1118268..154929305 [GRCh37]
ChrX:1038268..154582499 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q21.31(chrX:10701-88318651)x1 copy number loss See cases [RCV000139352] ChrX:10701..88318651 [GRCh38]
ChrX:60701..87573652 [GRCh37]
ChrX:701..87460308 [NCBI36]
ChrX:Xp22.33-q21.31
pathogenic
GRCh38/hg38 Xp11.23-11.22(chrX:48386298-52664916)x2 copy number gain See cases [RCV000139185] ChrX:48386298..52664916 [GRCh38]
ChrX:48245740..52616581 [GRCh37]
ChrX:48130684..52710691 [NCBI36]
ChrX:Xp11.23-11.22
pathogenic|uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004181)x3 copy number gain See cases [RCV000139888] ChrX:251880..156004181 [GRCh38]
ChrX:168547..155233846 [GRCh37]
ChrX:108547..154887040 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp11.22(chrX:50659076-50865411)x3 copy number gain See cases [RCV000139590] ChrX:50659076..50865411 [GRCh38]
ChrX:50418816..50625151 [NCBI36]
ChrX:Xp11.22
likely pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2299223-155992188)x3 copy number gain See cases [RCV000141400] ChrX:2299223..155992188 [GRCh38]
ChrX:2217264..155221853 [GRCh37]
ChrX:2227264..154875047 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156016920)x3 copy number gain See cases [RCV000141401] ChrX:20297..156016920 [GRCh38]
ChrX:70297..155246585 [GRCh37]
ChrX:10297..154899779 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x4 copy number gain See cases [RCV000140786] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10701-53750424)x1 copy number loss See cases [RCV000140711] ChrX:10701..53750424 [GRCh38]
ChrX:60701..53776922 [GRCh37]
ChrX:701..53793647 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x1 copy number loss See cases [RCV000140787] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic|conflicting data from submitters
GRCh38/hg38 Xp11.23-11.22(chrX:48953927-53273903)x2 copy number gain See cases [RCV000141869] ChrX:48953927..53273903 [GRCh38]
ChrX:48811187..53303085 [GRCh37]
ChrX:48696131..53319810 [NCBI36]
ChrX:Xp11.23-11.22
pathogenic
GRCh38/hg38 Xp11.22-q24(chrX:50289384-119297604) copy number loss See cases [RCV000141742] ChrX:50289384..119297604 [GRCh38]
ChrX:50032384..118431567 [GRCh37]
ChrX:50049124..118315595 [NCBI36]
ChrX:Xp11.22-q24
pathogenic
GRCh38/hg38 Xp11.3-11.22(chrX:46971389-54130971)x3 copy number gain See cases [RCV000141567] ChrX:46971389..54130971 [GRCh38]
ChrX:46818746..53957191 [GRCh37]
ChrX:46703690..54174129 [NCBI36]
ChrX:Xp11.3-11.22
pathogenic
GRCh38/hg38 Xp22.33-q12(chrX:251880-66445845)x1 copy number loss See cases [RCV000142334] ChrX:251880..66445845 [GRCh38]
ChrX:168547..65665687 [GRCh37]
ChrX:108547..65582412 [NCBI36]
ChrX:Xp22.33-q12
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:251880-51643625)x1 copy number loss See cases [RCV000142035] ChrX:251880..51643625 [GRCh38]
ChrX:168547..51386559 [GRCh37]
ChrX:108547..51403299 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q24(chrX:251879-118847157)x3 copy number gain See cases [RCV000142134] ChrX:251879..118847157 [GRCh38]
ChrX:168546..117981120 [GRCh37]
ChrX:108546..117865148 [NCBI36]
ChrX:Xp22.33-q24
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x3 copy number gain See cases [RCV000142625] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x1 copy number loss See cases [RCV000143441] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:108546..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x3 copy number gain See cases [RCV000143433] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10701-53131191)x1 copy number loss See cases [RCV000143348] ChrX:10701..53131191 [GRCh38]
ChrX:60701..53047381 [GRCh37]
ChrX:701..53177098 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:251879-56428859)x1 copy number loss See cases [RCV000143130] ChrX:251879..56428859 [GRCh38]
ChrX:168546..56455292 [GRCh37]
ChrX:108546..56472017 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x3 copy number gain See cases [RCV000143219] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:108547..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000148141] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000148135] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
NM_020717.3(SHROOM4):c.3211C>T (p.Arg1071Trp) single nucleotide variant not provided [RCV000153950] ChrX:50607931 [GRCh38]
ChrX:50350931 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_020717.3(SHROOM4):c.2192A>G (p.Glu731Gly) single nucleotide variant Stocco dos Santos syndrome [RCV000613790]|not specified [RCV000178325] ChrX:50633881 [GRCh38]
ChrX:50376881 [GRCh37]
ChrX:Xp11.22
benign|likely benign
NM_020717.3(SHROOM4):c.770G>A (p.Arg257His) single nucleotide variant not provided [RCV000178326] ChrX:50635303 [GRCh38]
ChrX:50378303 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_020717.3(SHROOM4):c.839G>A (p.Arg280Gln) single nucleotide variant not provided [RCV000964097]|not specified [RCV000178327] ChrX:50635234 [GRCh38]
ChrX:50378234 [GRCh37]
ChrX:Xp11.22
benign
NM_020717.3(SHROOM4):c.3390A>G (p.Gln1130=) single nucleotide variant not provided [RCV000179513] ChrX:50607752 [GRCh38]
ChrX:50350752 [GRCh37]
ChrX:Xp11.22
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3 copy number gain See cases [RCV000240122] ChrX:71267..155246643 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_020717.3(SHROOM4):c.245G>A (p.Arg82Gln) single nucleotide variant not specified [RCV000193182] ChrX:50695810 [GRCh38]
ChrX:50438810 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_020717.3(SHROOM4):c.3140C>G (p.Ala1047Gly) single nucleotide variant not specified [RCV000193242] ChrX:50608002 [GRCh38]
ChrX:50351002 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_020717.3(SHROOM4):c.4066G>A (p.Val1356Ile) single nucleotide variant History of neurodevelopmental disorder [RCV000720993]|not provided [RCV000514408]|not specified [RCV000193677] ChrX:50598412 [GRCh38]
ChrX:50341412 [GRCh37]
ChrX:Xp11.22
benign|likely benign|uncertain significance
NM_020717.3(SHROOM4):c.266G>A (p.Arg89Lys) single nucleotide variant History of neurodevelopmental disorder [RCV000720949]|not specified [RCV000194219] ChrX:50695789 [GRCh38]
ChrX:50438789 [GRCh37]
ChrX:Xp11.22
benign
NM_020717.3(SHROOM4):c.731A>G (p.Asn244Ser) single nucleotide variant not specified [RCV000194351] ChrX:50635342 [GRCh38]
ChrX:50378342 [GRCh37]
ChrX:Xp11.22
likely benign
NM_020717.3(SHROOM4):c.2896-17A>G single nucleotide variant not specified [RCV000195191] ChrX:50627692 [GRCh38]
ChrX:50370692 [GRCh37]
ChrX:Xp11.22
likely benign
GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3 copy number gain See cases [RCV000239843] ChrX:176426..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_020717.3(SHROOM4):c.2362C>T (p.His788Tyr) single nucleotide variant Stocco dos Santos syndrome [RCV001195911] ChrX:50633711 [GRCh38]
ChrX:50376711 [GRCh37]
ChrX:Xp11.22
uncertain significance
GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3 copy number gain See cases [RCV000239798] ChrX:13147668..155250222 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x1 copy number loss See cases [RCV000239814] ChrX:70297..58066465 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1 copy number loss See cases [RCV000239832] ChrX:71267..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp11.23-11.22(chrX:48310313-52614698)x1 copy number loss See cases [RCV000203435] ChrX:48310313..52614698 [GRCh37]
ChrX:Xp11.23-11.22
pathogenic|uncertain significance
NM_020717.3(SHROOM4):c.3998G>A (p.Arg1333Gln) single nucleotide variant Inborn genetic diseases [RCV000210609] ChrX:50598480 [GRCh38]
ChrX:50341480 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_020717.3(SHROOM4):c.3147G>A (p.Met1049Ile) single nucleotide variant History of neurodevelopmental disorder [RCV000720941]|not provided [RCV000224464] ChrX:50607995 [GRCh38]
ChrX:50350995 [GRCh37]
ChrX:Xp11.22
benign
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3 copy number gain See cases [RCV000239934] ChrX:70297..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2 copy number gain See cases [RCV000240106] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1 copy number loss See cases [RCV000239902] ChrX:71267..155224766 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3 copy number gain See cases [RCV000239989] ChrX:60701..155246271 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:553069-155233731)x1 copy number loss See cases [RCV000446026] ChrX:553069..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp11.3-q21.1(chrX:44734936-79676121)x3 copy number gain See cases [RCV000240019] ChrX:44734936..79676121 [GRCh37]
ChrX:Xp11.3-q21.1
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2 copy number gain See cases [RCV000239874] ChrX:71267..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3 copy number gain See cases [RCV000240552] ChrX:176426..155236656 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2 copy number gain See cases [RCV000240464] ChrX:225816..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3 copy number gain See cases [RCV000240314] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2 copy number gain See cases [RCV000240541] ChrX:2707626..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_020717.3(SHROOM4):c.3104A>C (p.Glu1035Ala) single nucleotide variant Stocco dos Santos syndrome [RCV001196368]|not provided [RCV000487580] ChrX:50608038 [GRCh38]
ChrX:50351038 [GRCh37]
ChrX:Xp11.22
likely benign|uncertain significance
NM_020717.3(SHROOM4):c.3739C>T (p.Gln1247Ter) single nucleotide variant not provided [RCV000308203] ChrX:50607403 [GRCh38]
ChrX:50350403 [GRCh37]
ChrX:Xp11.22
pathogenic
NM_020717.3(SHROOM4):c.547C>G (p.Pro183Ala) single nucleotide variant not provided [RCV000295000] ChrX:50635526 [GRCh38]
ChrX:50378526 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_020717.3(SHROOM4):c.2815C>T (p.His939Tyr) single nucleotide variant not provided [RCV000584871] ChrX:50633258 [GRCh38]
ChrX:50376258 [GRCh37]
ChrX:Xp11.22
uncertain significance
GRCh37/hg19 Xp22.2-q25(chrX:11692290-121187337)x2 copy number gain not provided [RCV000488046] ChrX:11692290..121187337 [GRCh37]
ChrX:Xp22.2-q25
uncertain significance
NM_020717.3(SHROOM4):c.4114C>A (p.Leu1372Met) single nucleotide variant not provided [RCV000520469] ChrX:50598364 [GRCh38]
ChrX:50341364 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_020717.3(SHROOM4):c.3414delinsGGAG (p.Glu1151dup) indel not specified [RCV000322654] ChrX:50607728 [GRCh38]
ChrX:50350728 [GRCh37]
ChrX:Xp11.22
benign
Single allele duplication Syndromic X-linked intellectual disability Lubs type [RCV000768455] ChrX:15323210..153542100 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
NC_000023.10:g.36649710_136649711del100000002insG indel Heterotaxy, visceral, 1, X-linked [RCV000754886] ChrX:36649710..136649711 [GRCh37]
ChrX:Xp21.1-q26.3
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-154930047)x3 copy number gain See cases [RCV000449437] ChrX:168546..154930047 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3 copy number gain See cases [RCV000449330] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792) copy number loss See cases [RCV000449461] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp11.23-11.22(chrX:48317353-51497588)x3 copy number gain See cases [RCV000449147] ChrX:48317353..51497588 [GRCh37]
ChrX:Xp11.23-11.22
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-55529093)x1 copy number loss See cases [RCV000446584] ChrX:168546..55529093 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-56684082)x1 copy number loss See cases [RCV000447092] ChrX:168546..56684082 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-11.22(chrX:168546-52573789)x1 copy number loss See cases [RCV000447470] ChrX:168546..52573789 [GRCh37]
ChrX:Xp22.33-11.22
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2703632-155233731)x1 copy number loss See cases [RCV000446712] ChrX:2703632..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255792)x1 copy number loss See cases [RCV000446197] ChrX:71267..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246225)x3 copy number gain See cases [RCV000446270] ChrX:60701..155246225 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:318707-155224707)x1 copy number loss See cases [RCV000446667] ChrX:318707..155224707 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp11.23-11.22(chrX:48317353-51497588)x2 copy number gain See cases [RCV000447617] ChrX:48317353..51497588 [GRCh37]
ChrX:Xp11.23-11.22
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain See cases [RCV000446932] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155196888)x3 copy number gain See cases [RCV000446310] ChrX:168546..155196888 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155081533)x3 copy number gain See cases [RCV000447253] ChrX:168546..155081533 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168566-155233731)x1 copy number loss See cases [RCV000445720] ChrX:168566..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_020717.3(SHROOM4):c.3645C>G (p.Phe1215Leu) single nucleotide variant not provided [RCV000422929] ChrX:50607497 [GRCh38]
ChrX:50350497 [GRCh37]
ChrX:Xp11.22
likely benign|uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss See cases [RCV000448393] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)x4 copy number gain See cases [RCV000448034] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.1(chrX:168546-58140271)x1 copy number loss See cases [RCV000447773] ChrX:168546..58140271 [GRCh37]
ChrX:Xp22.33-11.1
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155246585)x1 copy number loss See cases [RCV000448652] ChrX:70297..155246585 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-55240087)x1 copy number loss See cases [RCV000512136] ChrX:168546..55240087 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_020717.3(SHROOM4):c.769C>T (p.Arg257Cys) single nucleotide variant not provided [RCV000483678] ChrX:50635304 [GRCh38]
ChrX:50378304 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_020717.3(SHROOM4):c.436C>T (p.Arg146Trp) single nucleotide variant Stocco dos Santos syndrome [RCV000477701]|not provided [RCV000514889] ChrX:50635637 [GRCh38]
ChrX:50378637 [GRCh37]
ChrX:Xp11.22
pathogenic|likely benign|uncertain significance
NM_020717.3(SHROOM4):c.1675G>A (p.Glu559Lys) single nucleotide variant not provided [RCV000999434]|not specified [RCV000503302] ChrX:50634398 [GRCh38]
ChrX:50377398 [GRCh37]
ChrX:Xp11.22
uncertain significance
GRCh37/hg19 Xp22.33-11.1(chrX:168546-58527164)x1 copy number loss See cases [RCV000510437] ChrX:168546..58527164 [GRCh37]
ChrX:Xp22.33-11.1
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-151304063)x1 copy number loss See cases [RCV000510382] ChrX:168547..151304063 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_020717.3(SHROOM4):c.4321C>T (p.Arg1441Cys) single nucleotide variant not specified [RCV000502309] ChrX:50596856 [GRCh38]
ChrX:50339856 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_020717.3(SHROOM4):c.2509T>C (p.Tyr837His) single nucleotide variant not specified [RCV000502436] ChrX:50633564 [GRCh38]
ChrX:50376564 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_020717.3(SHROOM4):c.316C>T (p.Leu106=) single nucleotide variant not specified [RCV000500258] ChrX:50638262 [GRCh38]
ChrX:50381262 [GRCh37]
ChrX:Xp11.22
uncertain significance
GRCh37/hg19 Xp22.33-q23(chrX:168547-112474026)x1 copy number loss See cases [RCV000510419] ChrX:168547..112474026 [GRCh37]
ChrX:Xp22.33-q23
pathogenic
NM_020717.3(SHROOM4):c.30C>G (p.Tyr10Ter) single nucleotide variant not specified [RCV000500798] ChrX:50813989 [GRCh38]
ChrX:50556989 [GRCh37]
ChrX:Xp11.22
likely benign
GRCh37/hg19 Xp22.33-11.21(chrX:168546-57504183)x1 copy number loss See cases [RCV000511615] ChrX:168546..57504183 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-57683964)x1 copy number loss See cases [RCV000512022] ChrX:168546..57683964 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp21.1-q22.1(chrX:37521774-98488534)x1 copy number loss See cases [RCV000512026] ChrX:37521774..98488534 [GRCh37]
ChrX:Xp21.1-q22.1
pathogenic
GRCh37/hg19 Xp21.2-q28(chrX:31088082-155233731)x1 copy number loss See cases [RCV000511413] ChrX:31088082..155233731 [GRCh37]
ChrX:Xp21.2-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-155233731) copy number gain See cases [RCV000512020] ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-54996659)x1 copy number loss See cases [RCV000510822] ChrX:168546..54996659 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_020717.3(SHROOM4):c.2773C>T (p.Arg925Trp) single nucleotide variant not provided [RCV000585042] ChrX:50633300 [GRCh38]
ChrX:50376300 [GRCh37]
ChrX:Xp11.22
uncertain significance
GRCh37/hg19 Xp11.23-11.22(chrX:48224454-52813336)x3 copy number gain See cases [RCV000512224] ChrX:48224454..52813336 [GRCh37]
ChrX:Xp11.23-11.22
pathogenic
GRCh37/hg19 Xp22.33-q13.3(chrX:168546-74549686) copy number loss See cases [RCV000512142] ChrX:168546..74549686 [GRCh37]
ChrX:Xp22.33-q13.3
pathogenic
NM_020717.3(SHROOM4):c.2165G>A (p.Arg722His) single nucleotide variant Stocco dos Santos syndrome [RCV000602347] ChrX:50633908 [GRCh38]
ChrX:50376908 [GRCh37]
ChrX:Xp11.22
likely benign
GRCh37/hg19 Xp11.23-11.22(chrX:48290189-52154997)x4 copy number gain See cases [RCV000512561] ChrX:48290189..52154997 [GRCh37]
ChrX:Xp11.23-11.22
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168564-57413442)x1 copy number loss See cases [RCV000512339] ChrX:168564..57413442 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.31-q21.31(chrX:7841947-90815333)x1,2 copy number gain not provided [RCV000684261] ChrX:7841947..90815333 [GRCh37]
ChrX:Xp22.31-q21.31
pathogenic
GRCh37/hg19 Xp11.23-11.22(chrX:48156672-52672728)x1 copy number loss not provided [RCV000684331] ChrX:48156672..52672728 [GRCh37]
ChrX:Xp11.23-11.22
pathogenic
GRCh37/hg19 Xp11.22(chrX:50394843-50659280)x2 copy number gain not provided [RCV000684333] ChrX:50394843..50659280 [GRCh37]
ChrX:Xp11.22
likely pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:60814-55476165)x1 copy number loss not provided [RCV000753275] ChrX:60814..55476165 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_020717.3(SHROOM4):c.3955G>A (p.Glu1319Lys) single nucleotide variant Stocco dos Santos syndrome [RCV000714626] ChrX:50598523 [GRCh38]
ChrX:50341523 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_020717.3(SHROOM4):c.3504C>T (p.Thr1168=) single nucleotide variant History of neurodevelopmental disorder [RCV000721065]|not provided [RCV000965522] ChrX:50607638 [GRCh38]
ChrX:50350638 [GRCh37]
ChrX:Xp11.22
likely benign
NM_020717.3(SHROOM4):c.3393_3395GGA[6] (p.Glu1151del) microsatellite History of neurodevelopmental disorder [RCV000721086] ChrX:50607729..50607731 [GRCh38]
ChrX:50350729..50350731 [GRCh37]
ChrX:Xp11.22
benign
GRCh37/hg19 Xp22.33-11.22(chrX:60814-51821765)x1 copy number loss not provided [RCV000753274] ChrX:60814..51821765 [GRCh37]
ChrX:Xp22.33-11.22
pathogenic
NM_020717.3(SHROOM4):c.509A>G (p.Tyr170Cys) single nucleotide variant History of neurodevelopmental disorder [RCV000721070] ChrX:50635564 [GRCh38]
ChrX:50378564 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_020717.3(SHROOM4):c.3440_3442AGG[6] (p.Glu1151dup) microsatellite History of neurodevelopmental disorder [RCV000721095] ChrX:50607687..50607688 [GRCh38]
ChrX:50350687..50350688 [GRCh37]
ChrX:Xp11.22
benign
GRCh37/hg19 Xp11.23-q13.2(chrX:48115450-73424191)x1 copy number loss not provided [RCV000753535] ChrX:48115450..73424191 [GRCh37]
ChrX:Xp11.23-q13.2
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155254881)x2 copy number gain not provided [RCV000753277] ChrX:60814..155254881 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x3 copy number gain not provided [RCV000753272] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x1 copy number loss not provided [RCV000753271] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155236712)x2 copy number gain not provided [RCV000753276] ChrX:60814..155236712 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:181779-155171702)x1 copy number loss not provided [RCV000753278] ChrX:181779..155171702 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
Single allele duplication Autistic disorder of childhood onset [RCV000754365] ChrX:1..156040895 [GRCh38]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.22(chrX:60814-50519984)x1 copy number loss See cases [RCV000790583] ChrX:60814..50519984 [GRCh37]
ChrX:Xp22.33-11.22
pathogenic
NM_020717.3(SHROOM4):c.2497G>A (p.Ala833Thr) single nucleotide variant not provided [RCV000966114] ChrX:50633576 [GRCh38]
ChrX:50376576 [GRCh37]
ChrX:Xp11.22
benign
NM_020717.3(SHROOM4):c.2672G>T (p.Ser891Ile) single nucleotide variant Stocco dos Santos syndrome [RCV000785007] ChrX:50633401 [GRCh38]
ChrX:50376401 [GRCh37]
ChrX:Xp11.22
uncertain significance
46,Y,inv(X)(p21.1q13.3) inversion Elevated serum creatine phosphokinase [RCV000856573] ChrX:32196272..75245806 [GRCh37]
ChrX:Xp21.1-q13.3
likely pathogenic
NM_020717.3(SHROOM4):c.3071T>C (p.Leu1024Pro) single nucleotide variant Stocco dos Santos syndrome [RCV000791095] ChrX:50608071 [GRCh38]
ChrX:50351071 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_020717.3(SHROOM4):c.4288C>T (p.Arg1430Cys) single nucleotide variant not provided [RCV000999431] ChrX:50596889 [GRCh38]
ChrX:50339889 [GRCh37]
ChrX:Xp11.22
likely benign
GRCh37/hg19 Xp11.4-q21.32(chrX:40572613-92796528)x1 copy number loss not provided [RCV000845670] ChrX:40572613..92796528 [GRCh37]
ChrX:Xp11.4-q21.32
pathogenic
NM_020717.3(SHROOM4):c.1996G>A (p.Glu666Lys) single nucleotide variant Stocco dos Santos syndrome [RCV000786918] ChrX:50634077 [GRCh38]
ChrX:50377077 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_020717.3(SHROOM4):c.3626C>T (p.Ala1209Val) single nucleotide variant not provided [RCV000999432] ChrX:50607516 [GRCh38]
ChrX:50350516 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_020717.3(SHROOM4):c.1053C>A (p.Ser351Arg) single nucleotide variant not provided [RCV000999435] ChrX:50635020 [GRCh38]
ChrX:50378020 [GRCh37]
ChrX:Xp11.22
likely benign
NM_020717.3(SHROOM4):c.1229A>G (p.His410Arg) single nucleotide variant not provided [RCV001091933] ChrX:50634844 [GRCh38]
ChrX:50377844 [GRCh37]
ChrX:Xp11.22
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss not provided [RCV000848828] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_020717.3(SHROOM4):c.39G>A (p.Val13=) single nucleotide variant not provided [RCV000999436] ChrX:50813980 [GRCh38]
ChrX:50556980 [GRCh37]
ChrX:Xp11.22
uncertain significance
GRCh37/hg19 Xp22.33-11.21(chrX:539722-55509385)x1 copy number loss not provided [RCV001007224] ChrX:539722..55509385 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-q11.1(chrX:168546-61877279)x1 copy number loss not provided [RCV000846273] ChrX:168546..61877279 [GRCh37]
ChrX:Xp22.33-q11.1
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain not provided [RCV000846039] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp11.23-11.22(chrX:48224266-52744574)x2 copy number gain not provided [RCV000847795] ChrX:48224266..52744574 [GRCh37]
ChrX:Xp11.23-11.22
pathogenic
NM_020717.3(SHROOM4):c.2172T>G (p.Gly724=) single nucleotide variant not provided [RCV000948156] ChrX:50633901 [GRCh38]
ChrX:50376901 [GRCh37]
ChrX:Xp11.22
likely benign
NM_020717.3(SHROOM4):c.3033C>T (p.Asp1011=) single nucleotide variant not provided [RCV001172007] ChrX:50608109 [GRCh38]
ChrX:50351109 [GRCh37]
ChrX:Xp11.22
likely benign
NM_020717.3(SHROOM4):c.2336A>G (p.Glu779Gly) single nucleotide variant not provided [RCV000999433] ChrX:50633737 [GRCh38]
ChrX:50376737 [GRCh37]
ChrX:Xp11.22
uncertain significance
GRCh37/hg19 Xp11.22(chrX:50032383-50694969)x3 copy number gain not provided [RCV001007304] ChrX:50032383..50694969 [GRCh37]
ChrX:Xp11.22
uncertain significance
GRCh37/hg19 Xp11.23-11.22(chrX:48307437-50657313)x3 copy number gain not provided [RCV001007303] ChrX:48307437..50657313 [GRCh37]
ChrX:Xp11.23-11.22
pathogenic
NM_020717.3(SHROOM4):c.3394G>A (p.Glu1132Lys) single nucleotide variant not provided [RCV001091932] ChrX:50607748 [GRCh38]
ChrX:50350748 [GRCh37]
ChrX:Xp11.22
uncertain significance
GRCh37/hg19 Xp22.33-11.21(chrX:219609-55466476)x1 copy number loss See cases [RCV001263061] ChrX:219609..55466476 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_020717.3(SHROOM4):c.2335G>A (p.Glu779Lys) single nucleotide variant Intellectual disability [RCV001251640] ChrX:50633738 [GRCh38]
ChrX:50376738 [GRCh37]
ChrX:Xp11.22
uncertain significance
GRCh37/hg19 Xp11.22(chrX:50534326-50825153)x2 copy number gain not provided [RCV001258796] ChrX:50534326..50825153 [GRCh37]
ChrX:Xp11.22
uncertain significance
GRCh37/hg19 Xp11.23-11.22(chrX:48102202-52685635)x2 copy number gain not provided [RCV001258953] ChrX:48102202..52685635 [GRCh37]
ChrX:Xp11.23-11.22
pathogenic
GRCh37/hg19 Xp11.23-11.22(chrX:48178413-52686510)x2 copy number gain not provided [RCV001258954] ChrX:48178413..52686510 [GRCh37]
ChrX:Xp11.23-11.22
pathogenic
NM_020717.4(SHROOM4):c.2798G>A (p.Arg933Gln) single nucleotide variant Stocco dos Santos syndrome [RCV001262700] ChrX:50633275 [GRCh38]
ChrX:50376275 [GRCh37]
ChrX:Xp11.22
likely benign
NM_020717.4(SHROOM4):c.3174C>A (p.Phe1058Leu) single nucleotide variant Stocco dos Santos syndrome [RCV001280816] ChrX:50607968 [GRCh38]
ChrX:50350968 [GRCh37]
ChrX:Xp11.22
uncertain significance
GRCh37/hg19 Xp22.33-11.21(chrX:168546-56457794)x1 copy number loss not provided [RCV001281358] ChrX:168546..56457794 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_020717.4(SHROOM4):c.3541G>C (p.Glu1181Gln) single nucleotide variant Stocco dos Santos syndrome [RCV001336506] ChrX:50607601 [GRCh38]
ChrX:50350601 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_020717.4(SHROOM4):c.1589C>T (p.Ser530Phe) single nucleotide variant Stocco dos Santos syndrome [RCV001331130] ChrX:50634484 [GRCh38]
ChrX:50377484 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_020717.4(SHROOM4):c.1165G>T (p.Ala389Ser) single nucleotide variant Stocco dos Santos syndrome [RCV001291669] ChrX:50634908 [GRCh38]
ChrX:50377908 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_020717.4(SHROOM4):c.724C>T (p.Arg242Cys) single nucleotide variant Stocco dos Santos syndrome [RCV001331134] ChrX:50635349 [GRCh38]
ChrX:50378349 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_020717.4(SHROOM4):c.775C>A (p.Gln259Lys) single nucleotide variant Stocco dos Santos syndrome [RCV001331135] ChrX:50635298 [GRCh38]
ChrX:50378298 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_020717.4(SHROOM4):c.1096G>A (p.Ala366Thr) single nucleotide variant not provided [RCV001304450] ChrX:50634977 [GRCh38]
ChrX:50377977 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_020717.4(SHROOM4):c.1913C>G (p.Ser638Cys) single nucleotide variant not provided [RCV001311076] ChrX:50634160 [GRCh38]
ChrX:50377160 [GRCh37]
ChrX:Xp11.22
likely benign
NM_020717.4(SHROOM4):c.2519C>T (p.Thr840Ile) single nucleotide variant Stocco dos Santos syndrome [RCV001331132] ChrX:50633554 [GRCh38]
ChrX:50376554 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_020717.4(SHROOM4):c.1157A>G (p.Glu386Gly) single nucleotide variant Stocco dos Santos syndrome [RCV001331129] ChrX:50634916 [GRCh38]
ChrX:50377916 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_020717.4(SHROOM4):c.1859T>C (p.Val620Ala) single nucleotide variant Stocco dos Santos syndrome [RCV001331131] ChrX:50634214 [GRCh38]
ChrX:50377214 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_020717.4(SHROOM4):c.4322G>A (p.Arg1441His) single nucleotide variant Stocco dos Santos syndrome [RCV001331133] ChrX:50596855 [GRCh38]
ChrX:50339855 [GRCh37]
ChrX:Xp11.22
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:29215 AgrOrtholog
COSMIC SHROOM4 COSMIC
Ensembl Genes ENSG00000158352 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000289292 UniProtKB/Swiss-Prot
  ENSP00000365188 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000421450 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000289292 UniProtKB/Swiss-Prot
  ENST00000376020 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000460112 ENTREZGENE, UniProtKB/Swiss-Prot
Gene3D-CATH 2.30.42.10 UniProtKB/Swiss-Prot
GTEx ENSG00000158352 GTEx
HGNC ID HGNC:29215 ENTREZGENE
Human Proteome Map SHROOM4 Human Proteome Map
InterPro ASD2_dom UniProtKB/Swiss-Prot
  PDZ UniProtKB/Swiss-Prot
  PDZ_sf UniProtKB/Swiss-Prot
  Shroom4 UniProtKB/Swiss-Prot
  Shroom_fam UniProtKB/Swiss-Prot
KEGG Report hsa:57477 UniProtKB/Swiss-Prot
NCBI Gene 57477 ENTREZGENE
OMIM 300434 OMIM
  300579 OMIM
PANTHER PTHR15012 UniProtKB/Swiss-Prot
  PTHR15012:SF35 UniProtKB/Swiss-Prot
Pfam ASD2 UniProtKB/Swiss-Prot
  PDZ UniProtKB/Swiss-Prot
PharmGKB PA147357321 PharmGKB
PROSITE ASD2 UniProtKB/Swiss-Prot
  PDZ UniProtKB/Swiss-Prot
SMART PDZ UniProtKB/Swiss-Prot
Superfamily-SCOP SSF50156 UniProtKB/Swiss-Prot
UniProt Q9ULL8 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary A7E2X9 UniProtKB/Swiss-Prot
  D6RFW0 UniProtKB/Swiss-Prot
  Q96LA0 UniProtKB/Swiss-Prot