FGD1 (FYVE, RhoGEF and PH domain containing 1) - Rat Genome Database

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Gene: FGD1 (FYVE, RhoGEF and PH domain containing 1) Homo sapiens
Analyze
Symbol: FGD1
Name: FYVE, RhoGEF and PH domain containing 1
RGD ID: 1351228
HGNC Page HGNC
Description: Exhibits guanyl-nucleotide exchange factor activity and small GTPase binding activity. Involved in actin cytoskeleton organization; filopodium assembly; and regulation of GTPase activity. Predicted to localize to Golgi apparatus; lamellipodium; and ruffle. Implicated in X-linked Aarskog syndrome and non-syndromic X-linked intellectual disability. Biomarker of invasive ductal carcinoma and prostate cancer.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: AAS; faciogenital dysplasia 1 protein; FGDY; FYVE, RhoGEF and PH domain-containing protein 1; MRXS16; rho/Rac GEF; rho/Rac guanine nucleotide exchange factor FGD1; ZFYVE3; zinc finger FYVE domain-containing protein 3
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 EnsemblX54,445,454 - 54,496,234 (-)EnsemblGRCh38hg38GRCh38
GRCh38X54,445,454 - 54,496,234 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X54,471,887 - 54,522,667 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X54,488,612 - 54,539,324 (-)NCBINCBI36hg18NCBI36
Build 34X54,354,909 - 54,405,620NCBI
CeleraX58,304,448 - 58,355,160 (-)NCBI
Cytogenetic MapXp11.22NCBI
HuRefX51,522,464 - 51,572,796 (-)NCBIHuRef
CHM1_1X54,462,541 - 54,513,238 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
cytoplasm  (IBA,ISS)
cytoskeleton  (IEA)
cytosol  (TAS)
Golgi apparatus  (ISS)
lamellipodium  (ISS)
ruffle  (ISS)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal vertebral segmentation and fusion  (IAGP)
Abnormality of cardiovascular system morphology  (IAGP)
Anteverted nares  (IAGP)
Attention deficit hyperactivity disorder  (IAGP)
Brachydactyly  (IAGP)
Broad foot  (IAGP)
Broad forehead  (IAGP)
Broad palm  (IAGP)
Broad philtrum  (IAGP)
Camptodactyly of finger  (IAGP)
Cervical spine hypermobility  (IAGP)
Cleft palate  (IAGP)
Cleft upper lip  (IAGP)
Clinodactyly  (IAGP)
Clinodactyly of the 5th finger  (IAGP)
Cognitive impairment  (IAGP)
Congestive heart failure  (IAGP)
Cryptorchidism  (IAGP)
Curved linear dimple below the lower lip  (IAGP)
Delayed eruption of teeth  (IAGP)
Delayed puberty  (IAGP)
Downslanted palpebral fissures  (IAGP)
Epicanthus  (IAGP)
Everted lower lip vermilion  (IAGP)
External ear malformation  (IAGP)
Failure to thrive  (IAGP)
Finger syndactyly  (IAGP)
Genu recurvatum  (IAGP)
Global developmental delay  (IAGP)
High anterior hairline  (IAGP)
Hyperextensibility of the finger joints  (IAGP)
Hyperextensible skin  (IAGP)
Hypermetropia  (IAGP)
Hypertelorism  (IAGP)
Hypodontia  (IAGP)
Hypoplasia of the maxilla  (IAGP)
Hypoplasia of the odontoid process  (IAGP)
Increased upper to lower segment ratio  (IAGP)
Inguinal hernia  (IAGP)
Intellectual disability  (IAGP)
Intellectual disability, mild  (IAGP)
Joint hyperflexibility  (IAGP)
Large earlobe  (IAGP)
Long philtrum  (IAGP)
Low-set, posteriorly rotated ears  (IAGP)
Lozenge-shaped umbilicus  (IAGP)
Megalocornea  (IAGP)
Mild short stature  (IAGP)
Pectus excavatum  (IAGP)
Pes planus  (IAGP)
Prominent umbilicus  (IAGP)
Ptosis  (IAGP)
Radial deviation of finger  (IAGP)
Round face  (IAGP)
Schizophrenia  (IAGP)
Scoliosis  (IAGP)
Shawl scrotum  (IAGP)
Short 5th finger  (IAGP)
Short foot  (IAGP)
Short neck  (IAGP)
Short nose  (IAGP)
Short palm  (IAGP)
Short stature  (IAGP)
Single transverse palmar crease  (IAGP)
Small hand  (IAGP)
Strabismus  (IAGP)
Syndactyly  (IAGP)
Talipes  (IAGP)
Umbilical hernia  (IAGP)
Wide nasal bridge  (IAGP)
Widow's peak  (IAGP)
X-linked recessive inheritance  (IAGP)
References

Additional References at PubMed
PMID:8268928   PMID:8969170   PMID:8994827   PMID:9268645   PMID:10906777   PMID:10930571   PMID:11093277   PMID:11181572   PMID:11756498   PMID:12134158   PMID:12376548   PMID:12477932  
PMID:12673651   PMID:12787561   PMID:12913069   PMID:14560308   PMID:15327482   PMID:15489334   PMID:15743413   PMID:16688726   PMID:17152066   PMID:17564959   PMID:17847065   PMID:18029348  
PMID:19110080   PMID:19261807   PMID:19322201   PMID:20607856   PMID:21212517   PMID:21356349   PMID:21739585   PMID:21873635   PMID:22854039   PMID:22876573   PMID:23169394   PMID:23443263  
PMID:24446295   PMID:24770546   PMID:26496610   PMID:27199457   PMID:27544718   PMID:28103835   PMID:30021884   PMID:32203420   PMID:32296183   PMID:32673397  


Genomics

Comparative Map Data
FGD1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX54,445,454 - 54,496,234 (-)EnsemblGRCh38hg38GRCh38
GRCh38X54,445,454 - 54,496,234 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X54,471,887 - 54,522,667 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X54,488,612 - 54,539,324 (-)NCBINCBI36hg18NCBI36
Build 34X54,354,909 - 54,405,620NCBI
CeleraX58,304,448 - 58,355,160 (-)NCBI
Cytogenetic MapXp11.22NCBI
HuRefX51,522,464 - 51,572,796 (-)NCBIHuRef
CHM1_1X54,462,541 - 54,513,238 (-)NCBICHM1_1
Fgd1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X149,829,141 - 149,872,682 (+)NCBIGRCm39mm39
GRCm39 EnsemblX149,829,146 - 149,872,517 (+)Ensembl
GRCm38X151,046,141 - 151,089,686 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX151,046,150 - 151,089,521 (+)EnsemblGRCm38mm10GRCm38
MGSCv37X147,481,776 - 147,523,642 (+)NCBIGRCm37mm9NCBIm37
MGSCv36X146,387,949 - 146,429,815 (+)NCBImm8
MGSCv36X128,052,708 - 128,094,514 (+)NCBImm8
CeleraX133,315,143 - 133,357,665 (-)NCBICelera
Cytogenetic MapXF3NCBI
cM MapX68.46NCBI
Fgd1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2X20,023,746 - 20,066,730 (+)NCBI
Rnor_6.0 EnsemblX20,100,942 - 20,143,871 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0 EnsemblX20,216,587 - 20,225,955 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0X20,100,942 - 20,143,871 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0X20,846,380 - 20,888,661 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X40,364,211 - 40,407,213 (+)NCBIRGSC3.4rn4RGSC3.4
CeleraX20,281,249 - 20,323,819 (+)NCBICelera
Cytogenetic MapXq12NCBI
Fgd1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554751,703,374 - 1,752,710 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554751,703,374 - 1,752,710 (-)NCBIChiLan1.0ChiLan1.0
FGD1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1X54,880,751 - 54,930,672 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX54,880,513 - 54,930,672 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0X46,648,765 - 46,699,444 (-)NCBIMhudiblu_PPA_v0panPan3
FGD1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X46,194,950 - 46,239,291 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX46,194,735 - 46,270,701 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaX37,583,900 - 37,627,968 (-)NCBI
ROS_Cfam_1.0X46,516,320 - 46,560,389 (-)NCBI
UMICH_Zoey_3.1X46,014,132 - 46,058,399 (-)NCBI
UNSW_CanFamBas_1.0X46,464,507 - 46,508,560 (-)NCBI
UU_Cfam_GSD_1.0X46,531,810 - 46,575,872 (-)NCBI
Fgd1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X39,012,340 - 39,057,557 (-)NCBI
SpeTri2.0NW_0049367511,355,606 - 1,397,282 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
FGD1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX47,192,423 - 47,231,342 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X47,191,838 - 47,231,656 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X53,049,149 - 53,088,229 (-)NCBISscrofa10.2Sscrofa10.2susScr3
FGD1
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X50,554,648 - 50,609,437 (-)NCBI
ChlSab1.1 EnsemblX50,556,168 - 50,583,010 (-)Ensembl
Fgd1
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046249092,316,749 - 2,370,097 (-)NCBI

Position Markers
DXS1044  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X54,508,501 - 54,508,774UniSTSGRCh37
Build 36X54,525,226 - 54,525,499RGDNCBI36
CeleraX58,341,062 - 58,341,335RGD
Cytogenetic MapXp11.21UniSTS
HuRefX51,558,829 - 51,559,102UniSTS
Marshfield Genetic MapX52.5RGD
Marshfield Genetic MapX52.5UniSTS
Genethon Genetic MapX86.8UniSTS
Whitehead-YAC Contig MapX UniSTS
SGC30464  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X54,471,925 - 54,472,039UniSTSGRCh37
Build 36X54,488,650 - 54,488,764RGDNCBI36
CeleraX58,304,486 - 58,304,600RGD
Cytogenetic MapXp11.21UniSTS
Cytogenetic MapXp11.22UniSTS
HuRefX51,522,502 - 51,522,616UniSTS
GeneMap99-GB4 RH MapX174.07UniSTS
Whitehead-RH MapX98.2UniSTS
SHGC-24021  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X54,471,967 - 54,472,090UniSTSGRCh37
Build 36X54,488,692 - 54,488,815RGDNCBI36
CeleraX58,304,528 - 58,304,651RGD
Cytogenetic MapXp11.21UniSTS
Cytogenetic MapXp11.22UniSTS
HuRefX51,522,544 - 51,522,667UniSTS
GeneMap99-G3 RH MapX1571.0UniSTS
RH98842  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X54,474,173 - 54,474,359UniSTSGRCh37
Build 36X54,490,898 - 54,491,084RGDNCBI36
CeleraX58,306,734 - 58,306,920RGD
Cytogenetic MapXp11.21UniSTS
HuRefX51,524,750 - 51,524,936UniSTS
GeneMap99-GB4 RH MapX174.31UniSTS
RH75708  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X54,471,669 - 54,471,865UniSTSGRCh37
Build 36X54,488,394 - 54,488,590RGDNCBI36
CeleraX58,304,230 - 58,304,426RGD
Cytogenetic MapXp11.21UniSTS
Cytogenetic MapXp11.22UniSTS
HuRefX51,522,246 - 51,522,442UniSTS
FGD1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X54,472,611 - 54,472,775UniSTSGRCh37
GRCh37X54,522,305 - 54,522,504UniSTSGRCh37
Build 36X54,539,030 - 54,539,229RGDNCBI36
CeleraX58,354,866 - 58,355,065RGD
CeleraX58,305,172 - 58,305,336UniSTS
Cytogenetic MapXp11.21UniSTS
HuRefX51,523,188 - 51,523,352UniSTS
DXS7573E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X54,473,982 - 54,474,061UniSTSGRCh37
Build 36X54,490,707 - 54,490,786RGDNCBI36
CeleraX58,306,543 - 58,306,622RGD
Cytogenetic MapXp11.21UniSTS
HuRefX51,524,559 - 51,524,638UniSTS
FGD1_8347  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X54,471,889 - 54,472,720UniSTSGRCh37
Build 36X54,488,614 - 54,489,445RGDNCBI36
CeleraX58,304,450 - 58,305,281RGD
HuRefX51,522,466 - 51,523,297UniSTS
G35013  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X54,471,731 - 54,471,847UniSTSGRCh37
Build 36X54,488,456 - 54,488,572RGDNCBI36
CeleraX58,304,292 - 58,304,408RGD
Cytogenetic MapXp11.21UniSTS
Cytogenetic MapXp11.22UniSTS
HuRefX51,522,308 - 51,522,424UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:883
Count of miRNA genes:608
Interacting mature miRNAs:662
Transcripts:ENST00000375135
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 782 983 251 29 46 30 1611 384 1018 109 827 451 9 230 1032 1
Low 1634 1377 1451 573 1217 411 2734 1798 2715 309 631 1161 166 1 974 1745 4 2
Below cutoff 18 625 24 22 672 24 11 13 1 1 2 1 11

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000375135   ⟹   ENSP00000364277
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX54,445,454 - 54,496,234 (-)Ensembl
RefSeq Acc Id: NM_004463   ⟹   NP_004454
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X54,445,454 - 54,496,234 (-)NCBI
GRCh37X54,471,887 - 54,522,599 (-)ENTREZGENE
Build 36X54,488,612 - 54,539,324 (-)NCBI Archive
HuRefX51,522,464 - 51,572,796 (-)ENTREZGENE
CHM1_1X54,462,541 - 54,513,238 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_004454   ⟸   NM_004463
- UniProtKB: P98174 (UniProtKB/Swiss-Prot),   A0A024R9Y5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000364277   ⟸   ENST00000375135
Protein Domains
DH   FYVE-type   PH

Promoters
RGD ID:6813791
Promoter ID:HG_ACW:84003
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:FGD1.DAPR07-UNSPLICED
Position:
Human AssemblyChrPosition (strand)Source
Build 36X54,490,341 - 54,490,841 (-)MPROMDB
RGD ID:13605404
Promoter ID:EPDNEW_H28886
Type:initiation region
Name:FGD1_2
Description:FYVE, RhoGEF and PH domain containing 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H28887  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X54,495,893 - 54,495,953EPDNEW
RGD ID:13605406
Promoter ID:EPDNEW_H28887
Type:initiation region
Name:FGD1_1
Description:FYVE, RhoGEF and PH domain containing 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H28886  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X54,496,234 - 54,496,294EPDNEW
RGD ID:6808834
Promoter ID:HG_KWN:66966
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3
Transcripts:NM_004463
Position:
Human AssemblyChrPosition (strand)Source
Build 36X54,538,441 - 54,539,142 (-)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical 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_004463.3(FGD1):c.640C>G (p.Leu214Val) single nucleotide variant not provided [RCV000522602] ChrX:54470602 [GRCh38]
ChrX:54497035 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_004463.3(FGD1):c.62A>T (p.Asn21Ile) single nucleotide variant not specified [RCV000517861] ChrX:54495371 [GRCh38]
ChrX:54521804 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_004463.3(FGD1):c.1966C>T (p.Arg656Ter) single nucleotide variant Aarskog syndrome [RCV000022866] ChrX:54455497 [GRCh38]
ChrX:54481930 [GRCh37]
ChrX:Xp11.22
pathogenic
NM_004463.3(FGD1):c.714C>T (p.Pro238=) single nucleotide variant not provided [RCV000729435] ChrX:54470403 [GRCh38]
ChrX:54496836 [GRCh37]
ChrX:Xp11.22
uncertain significance
FGD1, 1-BP INS, 2122G insertion Aarskog syndrome [RCV000011571] ChrX:Xp11.21 pathogenic
NM_004463.3(FGD1):c.1829G>A (p.Arg610Gln) single nucleotide variant Aarskog syndrome [RCV000011572]|not provided [RCV000309625] ChrX:54456233 [GRCh38]
ChrX:54482666 [GRCh37]
ChrX:Xp11.22
pathogenic
NM_004463.3(FGD1):c.1565G>A (p.Arg522His) single nucleotide variant Aarskog syndrome [RCV000011573] ChrX:54465522 [GRCh38]
ChrX:54491955 [GRCh37]
ChrX:Xp11.22
pathogenic
FGD1, EX9-12DEL deletion Aarskog syndrome [RCV000011574] ChrX:Xp11.21 pathogenic
NM_004463.3(FGD1):c.935C>T (p.Pro312Leu) single nucleotide variant Aarskog syndrome [RCV000604954]|History of neurodevelopmental disorder [RCV000720983]|Intellectual disability [RCV001252498]|Syndromic X-linked mental retardation 16 [RCV000011575]|not provided [RCV000224897] ChrX:54470182 [GRCh38]
ChrX:54496615 [GRCh37]
ChrX:Xp11.22
pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance
FGD1, 1-BP INS, 528C insertion Aarskog syndrome [RCV000011576] ChrX:Xp11.21 pathogenic
NM_004463.3(FGD1):c.1223G>A (p.Arg408Gln) single nucleotide variant Aarskog syndrome [RCV000011577] ChrX:54467901 [GRCh38]
ChrX:54494334 [GRCh37]
ChrX:Xp11.22
pathogenic
FGD1, 1-BP DEL, 2189A deletion Aarskog syndrome [RCV000011578] ChrX:Xp11.21 pathogenic
NM_004463.3(FGD1):c.1328G>T (p.Arg443Leu) single nucleotide variant Aarskog syndrome [RCV000011579] ChrX:54467796 [GRCh38]
ChrX:54494229 [GRCh37]
ChrX:Xp11.22
pathogenic
NM_004463.3(FGD1):c.944dup (p.Ala316fs) duplication Aarskog syndrome [RCV000011580] ChrX:54470172..54470173 [GRCh38]
ChrX:54496605..54496606 [GRCh37]
ChrX:Xp11.22
pathogenic
NM_004463.3(FGD1):c.1396A>G (p.Met466Val) single nucleotide variant Aarskog syndrome [RCV000011581] ChrX:54465797 [GRCh38]
ChrX:54492230 [GRCh37]
ChrX:Xp11.22
pathogenic
NM_004463.3(FGD1):c.1843-3T>C single nucleotide variant not specified [RCV000516930] ChrX:54455787 [GRCh38]
ChrX:54482220 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_004463.2(FGD1):c.527dup (p.Leu177Thrfs) duplication Aarskog syndrome [RCV000577874] ChrX:54470715 [GRCh38]
ChrX:54497148 [GRCh37]
ChrX:Xp11.22
likely pathogenic
NM_004463.3(FGD1):c.892dup (p.Cys298fs) duplication Aarskog syndrome [RCV000577914] ChrX:54470224..54470225 [GRCh38]
ChrX:54496657..54496658 [GRCh37]
ChrX:Xp11.22
likely 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)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: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:10679-156022206)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-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 Xp11.22-11.1(chrX:52363196-58455952)x2 copy number gain See cases [RCV000052393] ChrX:52363196..58455952 [GRCh38]
ChrX:52175778..58482385 [GRCh37]
ChrX:52123054..58499110 [NCBI36]
ChrX:Xp11.22-11.1
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: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: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 Xp11.22-11.21(chrX:51664377-58055036)x3 copy number gain See cases [RCV000052392] ChrX:51664377..58055036 [GRCh38]
ChrX:51407309..58081470 [GRCh37]
ChrX:51424049..58098195 [NCBI36]
ChrX:Xp11.22-11.21
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: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 Xp22.33-11.1(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: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-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 Xp22.33-11.21(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
NM_004463.3(FGD1):c.1733T>C (p.Leu578Ser) single nucleotide variant Aarskog syndrome [RCV000659637] ChrX:54456329 [GRCh38]
ChrX:54482762 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_004463.3(FGD1):c.2728C>T (p.Arg910Ter) single nucleotide variant Aarskog syndrome [RCV000659639] ChrX:54446267 [GRCh38]
ChrX:54472700 [GRCh37]
ChrX:Xp11.22
likely pathogenic
NM_004463.3(FGD1):c.598C>T (p.Pro200Ser) single nucleotide variant Aarskog syndrome [RCV000660579] ChrX:54470644 [GRCh38]
ChrX:54497077 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_004463.3(FGD1):c.*36C>T single nucleotide variant not specified [RCV000081081] ChrX:54446073 [GRCh38]
ChrX:54472506 [GRCh37]
ChrX:Xp11.22
benign
NM_004463.3(FGD1):c.-4G>C single nucleotide variant History of neurodevelopmental disorder [RCV000715560]|not specified [RCV000081082] ChrX:54495436 [GRCh38]
ChrX:54521869 [GRCh37]
ChrX:Xp11.22
benign
NM_004463.3(FGD1):c.110C>T (p.Ala37Val) single nucleotide variant History of neurodevelopmental disorder [RCV000719119]|not specified [RCV000081083] ChrX:54495323 [GRCh38]
ChrX:54521756 [GRCh37]
ChrX:Xp11.22
benign
NM_004463.3(FGD1):c.1287T>G (p.Tyr429Ter) single nucleotide variant not provided [RCV000179441] ChrX:54467837 [GRCh38]
ChrX:54494270 [GRCh37]
ChrX:Xp11.22
pathogenic
NM_004463.3(FGD1):c.1468C>T (p.Gln490Ter) single nucleotide variant not provided [RCV000179887] ChrX:54465725 [GRCh38]
ChrX:54492158 [GRCh37]
ChrX:Xp11.22
pathogenic
NM_004463.3(FGD1):c.1556G>A (p.Arg519His) single nucleotide variant History of neurodevelopmental disorder [RCV000721053]|not provided [RCV000081086] ChrX:54465531 [GRCh38]
ChrX:54491964 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_004463.3(FGD1):c.1558A>T (p.Ile520Phe) single nucleotide variant not provided [RCV000081087] ChrX:54465529 [GRCh38]
ChrX:54491962 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_004463.3(FGD1):c.1563C>T (p.Pro521=) single nucleotide variant History of neurodevelopmental disorder [RCV000721093]|not provided [RCV000081088] ChrX:54465524 [GRCh38]
ChrX:54491957 [GRCh37]
ChrX:Xp11.22
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004463.3(FGD1):c.1564C>A (p.Arg522Ser) single nucleotide variant Inborn genetic diseases [RCV001266042]|not provided [RCV000081089] ChrX:54465523 [GRCh38]
ChrX:54491956 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_004463.3(FGD1):c.175C>T (p.Gln59Ter) single nucleotide variant not provided [RCV000173343] ChrX:54495258 [GRCh38]
ChrX:54521691 [GRCh37]
ChrX:Xp11.22
pathogenic
NM_004463.3(FGD1):c.2091T>C (p.Thr697=) single nucleotide variant History of neurodevelopmental disorder [RCV000715582]|not specified [RCV000081091] ChrX:54449716 [GRCh38]
ChrX:54476149 [GRCh37]
ChrX:Xp11.22
benign
NM_004463.3(FGD1):c.2112_2113insTT (p.Asn705fs) insertion not provided [RCV000174747] ChrX:54449694..54449695 [GRCh38]
ChrX:54476127..54476128 [GRCh37]
ChrX:Xp11.22
pathogenic
NM_004463.3(FGD1):c.2135dup (p.Pro713fs) duplication not provided [RCV000174748] ChrX:54449671..54449672 [GRCh38]
ChrX:54476104..54476105 [GRCh37]
ChrX:Xp11.22
pathogenic
NM_004463.3(FGD1):c.2136A>G (p.Pro712=) single nucleotide variant History of neurodevelopmental disorder [RCV000715571]|not specified [RCV000081094] ChrX:54449671 [GRCh38]
ChrX:54476104 [GRCh37]
ChrX:Xp11.22
benign
NM_004463.3(FGD1):c.2257T>G (p.Cys753Gly) single nucleotide variant not provided [RCV000081095] ChrX:54449160 [GRCh38]
ChrX:54475593 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_004463.3(FGD1):c.2289G>A (p.Lys763=) single nucleotide variant History of neurodevelopmental disorder [RCV000718616]|not provided [RCV000081096] ChrX:54448953 [GRCh38]
ChrX:54475386 [GRCh37]
ChrX:Xp11.22
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004463.3(FGD1):c.395G>A (p.Arg132Gln) single nucleotide variant Aarskog syndrome [RCV000608756]|History of neurodevelopmental disorder [RCV000716931]|not provided [RCV000514781]|not specified [RCV000081097] ChrX:54471400 [GRCh38]
ChrX:54497833 [GRCh37]
ChrX:Xp11.22
benign|likely benign
NM_004463.3(FGD1):c.574C>T (p.Pro192Ser) single nucleotide variant not provided [RCV000081098] ChrX:54470668 [GRCh38]
ChrX:54497101 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_004463.3(FGD1):c.676G>A (p.Ala226Thr) single nucleotide variant History of neurodevelopmental disorder [RCV000720954]|not provided [RCV000514490]|not specified [RCV000081099] ChrX:54470441 [GRCh38]
ChrX:54496874 [GRCh37]
ChrX:Xp11.22
benign|likely benign
NM_004463.3(FGD1):c.898G>A (p.Val300Ile) single nucleotide variant not provided [RCV000081100] ChrX:54470219 [GRCh38]
ChrX:54496652 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_004463.3(FGD1):c.2268C>T (p.Cys756=) single nucleotide variant History of neurodevelopmental disorder [RCV000717305]|not provided [RCV000895202]|not specified [RCV000174895] ChrX:54449149 [GRCh38]
ChrX:54475582 [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
NM_004463.3(FGD1):c.2016-2A>G single nucleotide variant not provided [RCV000174537] ChrX:54450303 [GRCh38]
ChrX:54476736 [GRCh37]
ChrX:Xp11.22
pathogenic
Single allele duplication Aarskog syndrome [RCV000174748] ChrX:54476104..54476105 [GRCh37] pathogenic
NM_004463.3(FGD1):c.1617G>A (p.Pro539=) single nucleotide variant History of neurodevelopmental disorder [RCV000717309]|not provided [RCV000895203]|not specified [RCV000180260] ChrX:54465470 [GRCh38]
ChrX:54491903 [GRCh37]
ChrX:Xp11.22
benign|likely benign
NM_004463.3(FGD1):c.527dup (p.Leu177fs) duplication Aarskog syndrome [RCV000177205]|not provided [RCV000790801] ChrX:54470714..54470715 [GRCh38]
ChrX:54497147..54497148 [GRCh37]
ChrX:Xp11.22
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_004463.3(FGD1):c.27C>T (p.Gly9=) single nucleotide variant not provided [RCV000173342] ChrX:54495406 [GRCh38]
ChrX:54521839 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_004463.3(FGD1):c.2735G>A (p.Trp912Ter) single nucleotide variant not provided [RCV001291570] ChrX:54446260 [GRCh38]
ChrX:54472693 [GRCh37]
ChrX:Xp11.22
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
NM_004463.3(FGD1):c.2167C>T (p.Arg723Trp) single nucleotide variant not provided [RCV000174896] ChrX:54449250 [GRCh38]
ChrX:54475683 [GRCh37]
ChrX:Xp11.22
uncertain significance
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: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: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: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-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 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 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 Xp22.33-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 Xp11.22-q21.31(chrX:53985575-92203108)x1 copy number loss See cases [RCV000135306] ChrX:53985575..92203108 [GRCh38]
ChrX:54012008..91458107 [GRCh37]
ChrX:54028733..91344763 [NCBI36]
ChrX:Xp11.22-q21.31
pathogenic
GRCh38/hg38 Xp11.22-11.21(chrX:53764152-58014767)x2 copy number gain See cases [RCV000135877] ChrX:53764152..58014767 [GRCh38]
ChrX:53790650..58041201 [GRCh37]
ChrX:53807375..58057926 [NCBI36]
ChrX:Xp11.22-11.21
pathogenic
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: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-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: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 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 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-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 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-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 Xp22.33-11.21(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 Xp11.22-q11.1(chrX:53750365-63089185)x2 copy number gain See cases [RCV000137412] ChrX:53750365..63089185 [GRCh38]
ChrX:53776863..62203737 [GRCh37]
ChrX:53793588..62225380 [NCBI36]
ChrX:Xp11.22-q11.1
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 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 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-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 Xp11.22-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 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 Xp11.22-11.1(chrX:51654792-58469500)x1 copy number loss See cases [RCV000142036] ChrX:51654792..58469500 [GRCh38]
ChrX:51397726..58495933 [GRCh37]
ChrX:51414466..58512658 [NCBI36]
ChrX:Xp11.22-11.1
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 Xp11.22-q11.2(chrX:52809123-65305544)x3 copy number gain See cases [RCV000142756] ChrX:52809123..65305544 [GRCh38]
ChrX:52838147..64525424 [GRCh37]
ChrX:52854872..64442149 [NCBI36]
ChrX:Xp11.22-q11.2
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 Xp11.22-q28(chrX:53144751-156003242)x1 copy number loss See cases [RCV000143349] ChrX:53144751..156003242 [GRCh38]
ChrX:53321095..155232907 [GRCh37]
ChrX:53190658..154886101 [NCBI36]
ChrX:Xp11.22-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 Xp22.33-11.21(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
NM_004463.3(FGD1):c.2568C>T (p.Tyr856=) single nucleotide variant History of neurodevelopmental disorder [RCV000717311]|not provided [RCV000879206]|not specified [RCV000153231] ChrX:54447323 [GRCh38]
ChrX:54473756 [GRCh37]
ChrX:Xp11.22
benign|likely benign
NM_004463.3(FGD1):c.482-10G>A single nucleotide variant not specified [RCV000153232] ChrX:54470770 [GRCh38]
ChrX:54497203 [GRCh37]
ChrX:Xp11.22
benign
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
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
NM_004463.3(FGD1):c.2786C>T (p.Pro929Leu) single nucleotide variant not provided [RCV000153230] ChrX:54446209 [GRCh38]
ChrX:54472642 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_004463.3(FGD1):c.281A>G (p.His94Arg) single nucleotide variant not provided [RCV000153233] ChrX:54495152 [GRCh38]
ChrX:54521585 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_004463.3(FGD1):c.440G>A (p.Arg147His) single nucleotide variant not provided [RCV000175782] ChrX:54471355 [GRCh38]
ChrX:54497788 [GRCh37]
ChrX:Xp11.22
conflicting interpretations of pathogenicity|uncertain significance
NM_004463.3(FGD1):c.373C>A (p.Pro125Thr) single nucleotide variant not provided [RCV000175783] ChrX:54471422 [GRCh38]
ChrX:54497855 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_004463.3(FGD1):c.771C>T (p.Pro257=) single nucleotide variant not provided [RCV000178215] ChrX:54470346 [GRCh38]
ChrX:54496779 [GRCh37]
ChrX:Xp11.22
conflicting interpretations of pathogenicity|uncertain significance
NM_004463.3(FGD1):c.622T>C (p.Ser208Pro) single nucleotide variant not provided [RCV000177206] ChrX:54470620 [GRCh38]
ChrX:54497053 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_004463.3(FGD1):c.1647G>A (p.Glu549=) single nucleotide variant not provided [RCV000180602] ChrX:54456557 [GRCh38]
ChrX:54482990 [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
GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3 copy number gain See cases [RCV000239843] ChrX:176426..155250222 [GRCh37]
ChrX:Xp22.33-q28
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 Xp22.33-11.21(chrX:70297-58066465)x3 copy number gain See cases [RCV000239834] ChrX:70297..58066465 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
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
NM_004463.3(FGD1):c.2761C>T (p.Arg921Ter) single nucleotide variant Aarskog syndrome [RCV000210282] ChrX:54446234 [GRCh38]
ChrX:54472667 [GRCh37]
ChrX:Xp11.22
uncertain significance
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:70297-155255839)x3 copy number gain See cases [RCV000239934] ChrX:70297..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp11.22-q12(chrX:53085607-67176333)x2 copy number gain See cases [RCV000239889] ChrX:53085607..67176333 [GRCh37]
ChrX:Xp11.22-q12
pathogenic
NM_004463.3(FGD1):c.997C>T (p.Gln333Ter) single nucleotide variant Inborn genetic diseases [RCV000623163] ChrX:54470120 [GRCh38]
ChrX:54496553 [GRCh37]
ChrX:Xp11.22
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:150002-155234036)x2 copy number gain See cases [RCV000240106] ChrX:150002..155234036 [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:71267-155224766)x1 copy number loss See cases [RCV000239902] ChrX:71267..155224766 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_004463.3(FGD1):c.1636+21C>T single nucleotide variant not specified [RCV000253356] ChrX:54465430 [GRCh38]
ChrX:54491863 [GRCh37]
ChrX:Xp11.22
benign
GRCh37/hg19 Xp11.22-11.21(chrX:53220822-58066465)x3 copy number gain See cases [RCV000240407] ChrX:53220822..58066465 [GRCh37]
ChrX:Xp11.22-11.21
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_004463.3(FGD1):c.2015+48G>C single nucleotide variant not specified [RCV000245368] ChrX:54455400 [GRCh38]
ChrX:54481833 [GRCh37]
ChrX:Xp11.22
benign
GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3 copy number gain See cases [RCV000240552] ChrX:176426..155236656 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_004463.3(FGD1):c.659+27T>C single nucleotide variant not specified [RCV000245696] ChrX:54470556 [GRCh38]
ChrX:54496989 [GRCh37]
ChrX:Xp11.22
benign
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
NM_004463.3(FGD1):c.-13C>T single nucleotide variant not provided [RCV000377605] ChrX:54495445 [GRCh38]
ChrX:54521878 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_004463.3(FGD1):c.2816A>C (p.Glu939Ala) single nucleotide variant History of neurodevelopmental disorder [RCV000719590]|not provided [RCV000378971] ChrX:54446179 [GRCh38]
ChrX:54472612 [GRCh37]
ChrX:Xp11.22
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004463.3(FGD1):c.849C>T (p.Ser283=) single nucleotide variant not provided [RCV000283448] ChrX:54470268 [GRCh38]
ChrX:54496701 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_004463.3(FGD1):c.207C>T (p.Gly69=) single nucleotide variant not provided [RCV000289876] ChrX:54495226 [GRCh38]
ChrX:54521659 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_004463.3(FGD1):c.2751C>T (p.Gly917=) single nucleotide variant not provided [RCV000326916] ChrX:54446244 [GRCh38]
ChrX:54472677 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_004463.3(FGD1):c.2314G>A (p.Val772Ile) single nucleotide variant not provided [RCV000401549] ChrX:54448928 [GRCh38]
ChrX:54475361 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_004463.3(FGD1):c.1564C>T (p.Arg522Cys) single nucleotide variant not provided [RCV000480896] ChrX:54465523 [GRCh38]
ChrX:54491956 [GRCh37]
ChrX:Xp11.22
likely pathogenic|conflicting interpretations of pathogenicity|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_004463.3(FGD1):c.2719G>T (p.Glu907Ter) single nucleotide variant not provided [RCV000490039] ChrX:54446276 [GRCh38]
ChrX:54472709 [GRCh37]
ChrX:Xp11.22
likely pathogenic
NM_004463.3(FGD1):c.577C>T (p.Arg193Ter) single nucleotide variant not provided [RCV000596461] ChrX:54470665 [GRCh38]
ChrX:54497098 [GRCh37]
ChrX:Xp11.22
pathogenic
NM_004463.3(FGD1):c.1555C>T (p.Arg519Cys) single nucleotide variant Inborn genetic diseases [RCV000623017] ChrX:54465532 [GRCh38]
ChrX:54491965 [GRCh37]
ChrX:Xp11.22
likely pathogenic
NM_004463.3(FGD1):c.457C>G (p.Arg153Gly) single nucleotide variant not provided [RCV000591890] ChrX:54471338 [GRCh38]
ChrX:54497771 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_004463.3(FGD1):c.2329C>T (p.Arg777Cys) single nucleotide variant not provided [RCV000731071] ChrX:54448913 [GRCh38]
ChrX:54475346 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_004463.3(FGD1):c.2047-5C>A single nucleotide variant Intellectual disability [RCV001252495]|not provided [RCV000735105] ChrX:54449765 [GRCh38]
ChrX:54476198 [GRCh37]
ChrX:Xp11.22
likely benign|uncertain significance
NM_004463.3(FGD1):c.2023G>A (p.Glu675Lys) single nucleotide variant not provided [RCV000730261] ChrX:54450294 [GRCh38]
ChrX:54476727 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_004463.3(FGD1):c.319G>C (p.Gly107Arg) single nucleotide variant not provided [RCV000733242] ChrX:54471476 [GRCh38]
ChrX:54497909 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_004463.3(FGD1):c.527del (p.Pro176fs) deletion Aarskog syndrome [RCV000415303]|Inborn genetic diseases [RCV000624698] ChrX:54470715 [GRCh38]
ChrX:54497148 [GRCh37]
ChrX:Xp11.22
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 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:71267-155255792)x1 copy number loss See cases [RCV000446197] ChrX:71267..155255792 [GRCh37]
ChrX:Xp22.33-q28
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-q28(chrX:318707-155224707)x1 copy number loss See cases [RCV000446667] ChrX:318707..155224707 [GRCh37]
ChrX:Xp22.33-q28
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-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:60701-155246225)x3 copy number gain See cases [RCV000446270] ChrX:60701..155246225 [GRCh37]
ChrX:Xp22.33-q28
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
NM_004463.3(FGD1):c.910G>A (p.Gly304Arg) single nucleotide variant not provided [RCV000431967] ChrX:54470207 [GRCh38]
ChrX:54496640 [GRCh37]
ChrX:Xp11.22
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168566-155233731)x1 copy number loss See cases [RCV000445720] ChrX:168566..155233731 [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 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-q28(chrX:70297-155246585)x1 copy number loss See cases [RCV000448652] ChrX:70297..155246585 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.1(chrX:168546-58140271)x1 copy number loss See cases [RCV000447773] ChrX:168546..58140271 [GRCh37]
ChrX:Xp22.33-11.1
pathogenic
GRCh37/hg19 Xp11.22(chrX:53797930-54608609)x3 copy number gain See cases [RCV000448260] ChrX:53797930..54608609 [GRCh37]
ChrX:Xp11.22
likely 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_004463.3(FGD1):c.26dup (p.Ala10fs) duplication not provided [RCV000483152] ChrX:54495406..54495407 [GRCh38]
ChrX:54521839..54521840 [GRCh37]
ChrX:Xp11.22
likely 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
GRCh37/hg19 Xp22.33-q28(chrX:168547-151304063)x1 copy number loss See cases [RCV000510382] ChrX:168547..151304063 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q23(chrX:168547-112474026)x1 copy number loss See cases [RCV000510419] ChrX:168547..112474026 [GRCh37]
ChrX:Xp22.33-q23
pathogenic
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 Xp22.33-11.21(chrX:168546-57683964)x1 copy number loss See cases [RCV000512022] ChrX:168546..57683964 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp21.2-q28(chrX:31088082-155233731)x1 copy number loss See cases [RCV000511413] ChrX:31088082..155233731 [GRCh37]
ChrX:Xp21.2-q28
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 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:168546-57504183)x1 copy number loss See cases [RCV000511615] ChrX:168546..57504183 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-54996659)x1 copy number loss See cases [RCV000510822] ChrX:168546..54996659 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_004463.3(FGD1):c.1101+20G>C single nucleotide variant not provided [RCV000514321] ChrX:54469996 [GRCh38]
ChrX:54496429 [GRCh37]
ChrX:Xp11.22
likely benign
NM_004463.3(FGD1):c.1549G>A (p.Val517Met) single nucleotide variant Inborn genetic diseases [RCV000624713] ChrX:54465538 [GRCh38]
ChrX:54491971 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_004463.3(FGD1):c.1328G>A (p.Arg443His) single nucleotide variant Inborn genetic diseases [RCV000624593] ChrX:54467796 [GRCh38]
ChrX:54494229 [GRCh37]
ChrX:Xp11.22
likely 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
NM_004463.3(FGD1):c.1978G>A (p.Val660Met) single nucleotide variant Inborn genetic diseases [RCV000622614] ChrX:54455485 [GRCh38]
ChrX:54481918 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_004463.3(FGD1):c.277dup (p.Tyr93fs) duplication Aarskog syndrome [RCV000659633] ChrX:54495155..54495156 [GRCh38]
ChrX:54521588..54521589 [GRCh37]
ChrX:Xp11.22
likely pathogenic
NM_004463.3(FGD1):c.1241C>T (p.Pro414Leu) single nucleotide variant Aarskog syndrome [RCV000659634]|not provided [RCV001268403] ChrX:54467883 [GRCh38]
ChrX:54494316 [GRCh37]
ChrX:Xp11.22
likely pathogenic
NM_004463.3(FGD1):c.917C>G (p.Pro306Arg) single nucleotide variant not provided [RCV000658055] ChrX:54470200 [GRCh38]
ChrX:54496633 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_004463.3(FGD1):c.2006T>G (p.Leu669Arg) single nucleotide variant Aarskog syndrome [RCV000659638] ChrX:54455457 [GRCh38]
ChrX:54481890 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_004463.3(FGD1):c.1445_1447dup (p.Asn482dup) duplication Aarskog syndrome [RCV000659635] ChrX:54465745..54465746 [GRCh38]
ChrX:54492178..54492179 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_004463.3(FGD1):c.1636+1G>A single nucleotide variant History of neurodevelopmental disorder [RCV000717138] ChrX:54465450 [GRCh38]
ChrX:54491883 [GRCh37]
ChrX:Xp11.22
pathogenic
NM_004463.3(FGD1):c.2043C>T (p.Val681=) single nucleotide variant History of neurodevelopmental disorder [RCV000719670]|not provided [RCV000880045] ChrX:54450274 [GRCh38]
ChrX:54476707 [GRCh37]
ChrX:Xp11.22
benign
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
NM_004463.3(FGD1):c.2619C>T (p.Phe873=) single nucleotide variant not provided [RCV000711632] ChrX:54446376 [GRCh38]
ChrX:54472809 [GRCh37]
ChrX:Xp11.22
benign|likely benign
NM_004463.3(FGD1):c.2436G>A (p.Glu812=) single nucleotide variant History of neurodevelopmental disorder [RCV000715926] ChrX:54448806 [GRCh38]
ChrX:54475239 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_004463.3(FGD1):c.2563A>G (p.Ile855Val) single nucleotide variant not provided [RCV000711631] ChrX:54447328 [GRCh38]
ChrX:54473761 [GRCh37]
ChrX:Xp11.22
uncertain significance
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_004463.3(FGD1):c.2805G>A (p.Arg935=) single nucleotide variant History of neurodevelopmental disorder [RCV000717925] ChrX:54446190 [GRCh38]
ChrX:54472623 [GRCh37]
ChrX:Xp11.22
likely benign
NM_004463.3(FGD1):c.2757G>A (p.Ala919=) single nucleotide variant History of neurodevelopmental disorder [RCV000718835]|not provided [RCV000865160] ChrX:54446238 [GRCh38]
ChrX:54472671 [GRCh37]
ChrX:Xp11.22
benign|likely benign
NM_004463.3(FGD1):c.1102-4C>A single nucleotide variant History of neurodevelopmental disorder [RCV000717708] ChrX:54468880 [GRCh38]
ChrX:54495313 [GRCh37]
ChrX:Xp11.22
likely benign
NM_004463.3(FGD1):c.119C>T (p.Pro40Leu) single nucleotide variant History of neurodevelopmental disorder [RCV000719398] ChrX:54495314 [GRCh38]
ChrX:54521747 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_004463.3(FGD1):c.2821C>T (p.Pro941Ser) single nucleotide variant History of neurodevelopmental disorder [RCV000719467] ChrX:54446174 [GRCh38]
ChrX:54472607 [GRCh37]
ChrX:Xp11.22
likely benign
NM_004463.3(FGD1):c.415C>T (p.Pro139Ser) single nucleotide variant History of neurodevelopmental disorder [RCV000721052] ChrX:54471380 [GRCh38]
ChrX:54497813 [GRCh37]
ChrX:Xp11.22
uncertain significance
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:181779-155171702)x1 copy number loss not provided [RCV000753278] ChrX:181779..155171702 [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
Single allele duplication Autistic disorder of childhood onset [RCV000754365] ChrX:1..156040895 [GRCh38]
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:60814-155254881)x2 copy number gain not provided [RCV000753277] ChrX:60814..155254881 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_004463.3(FGD1):c.822C>T (p.Asp274=) single nucleotide variant not provided [RCV000893347] ChrX:54470295 [GRCh38]
ChrX:54496728 [GRCh37]
ChrX:Xp11.22
likely benign
NC_000023.10:g.36649710_136649711del100000002insG indel Heterotaxy, visceral, 1, X-linked [RCV000754886] ChrX:36649710..136649711 [GRCh37]
ChrX:Xp21.1-q26.3
pathogenic
NM_004463.3(FGD1):c.1590T>A (p.Tyr530Ter) single nucleotide variant Aarskog syndrome [RCV000856740] ChrX:54465497 [GRCh38]
ChrX:54491930 [GRCh37]
ChrX:Xp11.22
pathogenic
NM_004463.3(FGD1):c.1731G>A (p.Leu577=) single nucleotide variant not provided [RCV000905623] ChrX:54456331 [GRCh38]
ChrX:54482764 [GRCh37]
ChrX:Xp11.22
benign
NM_004463.3(FGD1):c.2581-6C>T single nucleotide variant not provided [RCV000968804]|not specified [RCV001195434] ChrX:54446420 [GRCh38]
ChrX:54472853 [GRCh37]
ChrX:Xp11.22
benign
NM_004463.3(FGD1):c.2022G>A (p.Glu674=) single nucleotide variant not provided [RCV000901238] ChrX:54450295 [GRCh38]
ChrX:54476728 [GRCh37]
ChrX:Xp11.22
likely benign
NM_004463.3(FGD1):c.1340+9C>T single nucleotide variant not provided [RCV000875659] ChrX:54467775 [GRCh38]
ChrX:54494208 [GRCh37]
ChrX:Xp11.22
benign
NM_004463.3(FGD1):c.501C>T (p.Tyr167=) single nucleotide variant not provided [RCV000906841] ChrX:54470741 [GRCh38]
ChrX:54497174 [GRCh37]
ChrX:Xp11.22
benign
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
NM_004463.3(FGD1):c.679del (p.Ser227fs) deletion Aarskog syndrome [RCV001089540] ChrX:54470438 [GRCh38]
ChrX:54496871 [GRCh37]
ChrX:Xp11.22
pathogenic
Single allele duplication Syndromic X-linked intellectual disability Lubs type [RCV000768455] ChrX:15323210..153542100 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
NM_004463.3(FGD1):c.557G>A (p.Arg186His) single nucleotide variant not provided [RCV000782062] ChrX:54470685 [GRCh38]
ChrX:54497118 [GRCh37]
ChrX:Xp11.22
likely pathogenic
NM_004463.3(FGD1):c.85G>C (p.Ala29Pro) single nucleotide variant not provided [RCV000981509] ChrX:54495348 [GRCh38]
ChrX:54521781 [GRCh37]
ChrX:Xp11.22
benign|likely benign
NM_004463.3(FGD1):c.1392C>T (p.Leu464=) single nucleotide variant not provided [RCV000885114] ChrX:54465801 [GRCh38]
ChrX:54492234 [GRCh37]
ChrX:Xp11.22
benign
NM_004463.3(FGD1):c.1257C>T (p.His419=) single nucleotide variant not provided [RCV000922498] ChrX:54467867 [GRCh38]
ChrX:54494300 [GRCh37]
ChrX:Xp11.22
likely benign
NM_004463.3(FGD1):c.1636+7G>A single nucleotide variant not provided [RCV000919800] ChrX:54465444 [GRCh38]
ChrX:54491877 [GRCh37]
ChrX:Xp11.22
likely benign
NM_004463.3(FGD1):c.1668G>A (p.Glu556=) single nucleotide variant not provided [RCV000920947] ChrX:54456536 [GRCh38]
ChrX:54482969 [GRCh37]
ChrX:Xp11.22
likely benign
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_004463.3(FGD1):c.1341-8C>T single nucleotide variant not provided [RCV000921209] ChrX:54465860 [GRCh38]
ChrX:54492293 [GRCh37]
ChrX:Xp11.22
likely benign
NM_004463.3(FGD1):c.2082G>A (p.Thr694=) single nucleotide variant not provided [RCV000983008] ChrX:54449725 [GRCh38]
ChrX:54476158 [GRCh37]
ChrX:Xp11.22
likely benign
NM_004463.3(FGD1):c.942C>A (p.Pro314=) single nucleotide variant not provided [RCV000953777] ChrX:54470175 [GRCh38]
ChrX:54496608 [GRCh37]
ChrX:Xp11.22
benign
NM_004463.3(FGD1):c.2223G>A (p.Glu741=) single nucleotide variant not provided [RCV000942184] ChrX:54449194 [GRCh38]
ChrX:54475627 [GRCh37]
ChrX:Xp11.22
benign
NM_004463.3(FGD1):c.234C>T (p.Pro78=) single nucleotide variant not provided [RCV000872883] ChrX:54495199 [GRCh38]
ChrX:54521632 [GRCh37]
ChrX:Xp11.22
benign
NM_004463.3(FGD1):c.1143_1145del (p.Leu382del) deletion Aarskog syndrome [RCV000856731] ChrX:54468833..54468835 [GRCh38]
ChrX:54495266..54495268 [GRCh37]
ChrX:Xp11.22
pathogenic
NM_004463.3(FGD1):c.386G>A (p.Gly129Asp) single nucleotide variant Aarskog syndrome [RCV000990841] ChrX:54471409 [GRCh38]
ChrX:54497842 [GRCh37]
ChrX:Xp11.22
uncertain significance
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_004463.3(FGD1):c.1902C>T (p.Ser634=) single nucleotide variant not provided [RCV000873284] ChrX:54455725 [GRCh38]
ChrX:54482158 [GRCh37]
ChrX:Xp11.22
likely benign
NM_004463.3(FGD1):c.135C>A (p.Arg45=) single nucleotide variant not provided [RCV000939951] ChrX:54495298 [GRCh38]
ChrX:54521731 [GRCh37]
ChrX:Xp11.22
likely benign
NM_004463.3(FGD1):c.1452G>A (p.Trp484Ter) single nucleotide variant Aarskog syndrome [RCV000990839] ChrX:54465741 [GRCh38]
ChrX:54492174 [GRCh37]
ChrX:Xp11.22
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
NM_004463.3(FGD1):c.1843-1G>A single nucleotide variant Aarskog syndrome [RCV000990838] ChrX:54455785 [GRCh38]
ChrX:54482218 [GRCh37]
ChrX:Xp11.22
pathogenic
NM_004463.3(FGD1):c.1440G>C (p.Leu480=) single nucleotide variant not provided [RCV000991983] ChrX:54465753 [GRCh38]
ChrX:54492186 [GRCh37]
ChrX:Xp11.22
benign
NM_004463.3(FGD1):c.2206T>C (p.Cys736Arg) single nucleotide variant not provided [RCV001200500] ChrX:54449211 [GRCh38]
ChrX:54475644 [GRCh37]
ChrX:Xp11.22
likely pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss not provided [RCV000848828] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
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
NM_004463.3(FGD1):c.1811A>G (p.Asn604Ser) single nucleotide variant Aarskog syndrome [RCV001262422]|not provided [RCV000995924] ChrX:54456251 [GRCh38]
ChrX:54482684 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_004463.3(FGD1):c.1035GGA[3] (p.Glu350del) microsatellite Aarskog syndrome [RCV001198425] ChrX:54470071..54470073 [GRCh38]
ChrX:54496504..54496506 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_004463.3(FGD1):c.2001C>T (p.Leu667=) single nucleotide variant not provided [RCV000914500] ChrX:54455462 [GRCh38]
ChrX:54481895 [GRCh37]
ChrX:Xp11.22
likely benign
NM_004463.3(FGD1):c.1464C>T (p.Ser488=) single nucleotide variant not provided [RCV000910166] ChrX:54465729 [GRCh38]
ChrX:54492162 [GRCh37]
ChrX:Xp11.22
benign
NM_004463.3(FGD1):c.1521G>C (p.Leu507=) single nucleotide variant not provided [RCV000914860] ChrX:54465566 [GRCh38]
ChrX:54491999 [GRCh37]
ChrX:Xp11.22
likely benign
NM_004463.3(FGD1):c.1993C>T (p.Arg665Cys) single nucleotide variant not provided [RCV001092789] ChrX:54455470 [GRCh38]
ChrX:54481903 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_004463.3(FGD1):c.2151C>T (p.Asn717=) single nucleotide variant not provided [RCV000935282] ChrX:54449266 [GRCh38]
ChrX:54475699 [GRCh37]
ChrX:Xp11.22
benign
NM_004463.3(FGD1):c.437A>G (p.Gln146Arg) single nucleotide variant Aarskog syndrome [RCV000990840] ChrX:54471358 [GRCh38]
ChrX:54497791 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_004463.3(FGD1):c.17C>A (p.Ala6Asp) single nucleotide variant Intellectual disability [RCV001252496] ChrX:54495416 [GRCh38]
ChrX:54521849 [GRCh37]
ChrX:Xp11.22
likely benign
NM_004463.3(FGD1):c.68C>G (p.Pro23Arg) single nucleotide variant not specified [RCV001193341] ChrX:54495365 [GRCh38]
ChrX:54521798 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_004463.3(FGD1):c.571G>A (p.Asp191Asn) single nucleotide variant not specified [RCV001175483] ChrX:54470671 [GRCh38]
ChrX:54497104 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_004463.3(FGD1):c.106G>A (p.Gly36Arg) single nucleotide variant not provided [RCV001092790] ChrX:54495327 [GRCh38]
ChrX:54521760 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_004463.3(FGD1):c.46del (p.Glu16fs) deletion not provided [RCV001092791] ChrX:54495387 [GRCh38]
ChrX:54521820 [GRCh37]
ChrX:Xp11.22
pathogenic
NM_004463.3(FGD1):c.1695+1G>A single nucleotide variant Aarskog syndrome [RCV001199015] ChrX:54456508 [GRCh38]
ChrX:54482941 [GRCh37]
ChrX:Xp11.22
pathogenic
NM_004463.3(FGD1):c.139_140del (p.Gly47fs) deletion not provided [RCV001200501] ChrX:54495293..54495294 [GRCh38]
ChrX:54521726..54521727 [GRCh37]
ChrX:Xp11.22
likely pathogenic
NM_004463.3(FGD1):c.1093T>C (p.Ser365Pro) single nucleotide variant Intellectual disability [RCV001252497] ChrX:54470024 [GRCh38]
ChrX:54496457 [GRCh37]
ChrX:Xp11.22
likely benign
NM_004463.3(FGD1):c.515G>A (p.Arg172Gln) single nucleotide variant Intellectual disability [RCV001260708] ChrX:54470727 [GRCh38]
ChrX:54497160 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_004463.3(FGD1):c.514C>T (p.Arg172Trp) single nucleotide variant Intellectual disability [RCV001252494] ChrX:54470728 [GRCh38]
ChrX:54497161 [GRCh37]
ChrX:Xp11.22
likely benign
NM_004463.3(FGD1):c.1572G>T (p.Glu524Asp) single nucleotide variant Inborn genetic diseases [RCV001267326] ChrX:54465515 [GRCh38]
ChrX:54491948 [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
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_004463.3(FGD1):c.545del (p.Pro182fs) deletion Aarskog syndrome [RCV001262443] ChrX:54470697 [GRCh38]
ChrX:54497130 [GRCh37]
ChrX:Xp11.22
pathogenic
NM_004463.3(FGD1):c.2017A>G (p.Thr673Ala) single nucleotide variant Aarskog syndrome [RCV001333253] ChrX:54450300 [GRCh38]
ChrX:54476733 [GRCh37]
ChrX:Xp11.22
likely pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:3663 AgrOrtholog
COSMIC FGD1 COSMIC
Ensembl Genes ENSG00000102302 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000364277 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000375135 ENTREZGENE, UniProtKB/Swiss-Prot
Gene3D-CATH 1.20.900.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  2.30.29.30 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.30.40.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000102302 GTEx
HGNC ID HGNC:3663 ENTREZGENE
Human Proteome Map FGD1 Human Proteome Map
InterPro DBL_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DH-domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FGD1-4_PH2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FGD1_PH1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PH-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PH_domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_FYVE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_FYVE-rel UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_RING/FYVE/PHD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:2245 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 2245 ENTREZGENE
OMIM 300546 OMIM
  305400 OMIM
Pfam FYVE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PF00169 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RhoGEF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA28102 PharmGKB
PROSITE DH_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PH_DOMAIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ZF_FYVE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART FYVE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RhoGEF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SM00233 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF48065 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A024R9Y5 ENTREZGENE, UniProtKB/TrEMBL
  A0A2X0SFE1_HUMAN UniProtKB/TrEMBL
  FGD1_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary Q5H999 UniProtKB/Swiss-Prot
  Q8N4D9 UniProtKB/Swiss-Prot