PTCHD1 (patched domain containing 1) - Rat Genome Database

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Gene: PTCHD1 (patched domain containing 1) Homo sapiens
Analyze
Symbol: PTCHD1
Name: patched domain containing 1
RGD ID: 1352131
HGNC Page HGNC
Description: Involved in cognition and smoothened signaling pathway. Localizes to plasma membrane. Implicated in autistic disorder.
Type: protein-coding
RefSeq Status: VALIDATED
Also known as: AUTSX4; FLJ30296; MGC149798; patched domain-containing protein 1; PTCHD1 isoform
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 EnsemblX23,334,849 - 23,404,374 (+)EnsemblGRCh38hg38GRCh38
GRCh38X23,334,369 - 23,404,374 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X23,352,966 - 23,422,491 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X23,262,906 - 23,324,839 (+)NCBINCBI36hg18NCBI36
Build 34X23,112,751 - 23,172,076NCBI
CeleraX27,474,669 - 27,536,553 (+)NCBI
Cytogenetic MapXp22.11NCBI
HuRefX21,094,048 - 21,155,060 (+)NCBIHuRef
CHM1_1X23,384,049 - 23,445,953 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


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

Biological Process

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
2-3 toe syndactyly  (IAGP)
Abnormality of brain morphology  (IAGP)
Aggressive behavior  (IAGP)
Attention deficit hyperactivity disorder  (IAGP)
Autism  (IAGP)
Autistic behavior  (IAGP)
Babinski sign  (IAGP)
Bilateral tonic-clonic seizure  (IAGP)
Broad nasal tip  (IAGP)
Clinodactyly of the 2nd toe  (IAGP)
Delayed eruption of teeth  (IAGP)
Delayed speech and language development  (IAGP)
Depressed nasal bridge  (IAGP)
Downslanted palpebral fissures  (IAGP)
Drooling  (IAGP)
Facial palsy  (IAGP)
Generalized hypotonia  (IAGP)
Generalized non-motor (absence) seizure  (IAGP)
Global developmental delay  (IAGP)
Impulsivity  (IAGP)
Infantile onset  (IAGP)
Intellectual disability  (IAGP)
Intellectual disability, moderate  (IAGP)
Intellectual disability, profound  (IAGP)
Intellectual disability, severe  (IAGP)
Long palpebral fissure  (IAGP)
Long philtrum  (IAGP)
Macrocephaly  (IAGP)
Meckel diverticulum  (IAGP)
Midface retrusion  (IAGP)
Mild neurosensory hearing impairment  (IAGP)
Moderate sensorineural hearing impairment  (IAGP)
Motor tics  (IAGP)
Obesity  (IAGP)
Periorbital fullness  (IAGP)
Pes planus  (IAGP)
Poor speech  (IAGP)
Primary amenorrhea  (IAGP)
Pyloric stenosis  (IAGP)
Schizophrenia  (IAGP)
Shortening of all distal phalanges of the fingers  (IAGP)
Small for gestational age  (IAGP)
Thick lower lip vermilion  (IAGP)
Thin upper lip vermilion  (IAGP)
Urinary incontinence  (IAGP)
Variable expressivity  (IAGP)
Widened subarachnoid space  (IAGP)
X-linked recessive inheritance  (IAGP)
References

Additional References at PubMed
PMID:12477932   PMID:14702039   PMID:20531469   PMID:20844286   PMID:21091464   PMID:21873635   PMID:22610502   PMID:24722188   PMID:25131214   PMID:25533962   PMID:25782667   PMID:31540669  
PMID:32694731  


Genomics

Comparative Map Data
PTCHD1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX23,334,849 - 23,404,374 (+)EnsemblGRCh38hg38GRCh38
GRCh38X23,334,369 - 23,404,374 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X23,352,966 - 23,422,491 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X23,262,906 - 23,324,839 (+)NCBINCBI36hg18NCBI36
Build 34X23,112,751 - 23,172,076NCBI
CeleraX27,474,669 - 27,536,553 (+)NCBI
Cytogenetic MapXp22.11NCBI
HuRefX21,094,048 - 21,155,060 (+)NCBIHuRef
CHM1_1X23,384,049 - 23,445,953 (+)NCBICHM1_1
Ptchd1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X154,352,732 - 154,407,185 (-)NCBIGRCm39mm39
GRCm39 EnsemblX154,356,451 - 154,406,810 (-)Ensembl
GRCm38X155,569,736 - 155,624,170 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX155,573,455 - 155,623,814 (-)EnsemblGRCm38mm10GRCm38
MGSCv37X152,004,279 - 152,057,870 (-)NCBIGRCm37mm9NCBIm37
MGSCv36X150,914,257 - 150,964,043 (-)NCBImm8
CeleraX138,872,944 - 138,926,972 (-)NCBICelera
Cytogenetic MapXF3NCBI
Ptchd1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2X39,681,910 - 39,733,416 (+)NCBI
Rnor_6.0 EnsemblX42,558,931 - 42,614,242 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0X42,558,912 - 42,610,430 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0X42,866,040 - 42,917,474 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X61,079,670 - 61,131,155 (+)NCBIRGSC3.4rn4RGSC3.4
CeleraX40,277,508 - 40,329,013 (+)NCBICelera
Cytogenetic MapXq21NCBI
Ptchd1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555093,715,771 - 3,767,541 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049555093,716,086 - 3,767,541 (+)NCBIChiLan1.0ChiLan1.0
PTCHD1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1X23,305,555 - 23,366,273 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX23,305,555 - 23,366,273 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0X15,929,619 - 15,991,194 (+)NCBIMhudiblu_PPA_v0panPan3
PTCHD1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X19,096,787 - 19,153,367 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX19,096,559 - 19,148,528 (+)EnsemblCanFam3.1canFam3CanFam3.1
ROS_Cfam_1.0X19,050,277 - 19,105,259 (+)NCBI
UMICH_Zoey_3.1X19,089,857 - 19,144,818 (+)NCBI
UNSW_CanFamBas_1.0X19,119,773 - 19,174,752 (+)NCBI
UU_Cfam_GSD_1.0X19,176,247 - 19,231,008 (+)NCBI
Ptchd1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X12,031,839 - 12,087,657 (+)NCBI
SpeTri2.0NW_0049366241,072,857 - 1,125,962 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PTCHD1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX19,507,998 - 19,563,296 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X19,508,501 - 19,563,298 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X20,851,579 - 20,904,599 (+)NCBISscrofa10.2Sscrofa10.2susScr3
PTCHD1
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X21,810,530 - 21,874,109 (+)NCBI
ChlSab1.1 EnsemblX21,810,956 - 21,870,417 (+)Ensembl
Ptchd1
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248298,458,430 - 8,513,011 (+)NCBI

Position Markers
DXS8104  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X23,395,632 - 23,395,855UniSTSGRCh37
Build 36X23,305,553 - 23,305,776RGDNCBI36
CeleraX27,517,266 - 27,517,489RGD
Cytogenetic MapXp22.11UniSTS
HuRefX21,136,081 - 21,136,312UniSTS
Marshfield Genetic MapX29.76UniSTS
Marshfield Genetic MapX29.76RGD
Genethon Genetic MapX40.6UniSTS
deCODE Assembly MapX40.84UniSTS
RH48273  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X23,414,723 - 23,414,849UniSTSGRCh37
Build 36X23,324,644 - 23,324,770RGDNCBI36
CeleraX27,536,358 - 27,536,484RGD
Cytogenetic MapXp22.11UniSTS
HuRefX21,154,865 - 21,154,991UniSTS
GeneMap99-GB4 RH MapX98.93UniSTS
NCBI RH MapX43.0UniSTS
RH46883  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371910,952,755 - 10,952,834UniSTSGRCh37
GRCh37X23,369,337 - 23,369,476UniSTSGRCh37
Build 36X23,279,258 - 23,279,397RGDNCBI36
CeleraX27,490,985 - 27,491,124RGD
Celera1910,847,600 - 10,847,679UniSTS
Cytogenetic Map11q14.2UniSTS
Cytogenetic MapXp22.11UniSTS
HuRef1910,530,886 - 10,530,965UniSTS
HuRefX21,110,343 - 21,110,482UniSTS
GeneMap99-GB4 RH MapX98.93UniSTS
NCBI RH MapX43.0UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:8007
Count of miRNA genes:1544
Interacting mature miRNAs:2159
Transcripts:ENST00000379361, ENST00000456522
Prediction methods:Miranda, Pita, Pita,Targetscan, 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 336 124 4 126 43 431 3 25 1 124
Low 1475 897 430 146 137 7 1168 835 2368 66 669 366 140 293 735 1 1
Below cutoff 504 1726 1045 270 924 249 2974 1280 900 171 615 1104 23 1 907 1926

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_021300 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_173495 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011545449 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC073910 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK054858 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK126657 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK298796 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC062344 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC121061 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX107899 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471074 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC351268 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC365753 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KJ534921 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KJ535084 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KJ535090 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KP940348 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KR025516 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KR270726 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000379361   ⟹   ENSP00000368666
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX23,334,849 - 23,404,374 (+)Ensembl
RefSeq Acc Id: ENST00000456522   ⟹   ENSP00000406663
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX23,335,069 - 23,393,108 (+)Ensembl
RefSeq Acc Id: NM_173495   ⟹   NP_775766
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X23,334,849 - 23,404,374 (+)NCBI
GRCh37X23,352,985 - 23,414,918 (+)RGD
Build 36X23,262,906 - 23,324,839 (+)NCBI Archive
CeleraX27,474,669 - 27,536,553 (+)RGD
HuRefX21,094,048 - 21,155,060 (+)RGD
CHM1_1X23,384,049 - 23,445,953 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011545449   ⟹   XP_011543751
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X23,334,369 - 23,404,374 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_775766   ⟸   NM_173495
- UniProtKB: Q96NR3 (UniProtKB/Swiss-Prot),   X5DNX9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011543751   ⟸   XM_011545449
- Peptide Label: isoform X1
- UniProtKB: Q96NR3 (UniProtKB/Swiss-Prot),   X5DNX9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000406663   ⟸   ENST00000456522
RefSeq Acc Id: ENSP00000368666   ⟸   ENST00000379361
Protein Domains
SSD

Promoters
RGD ID:13604920
Promoter ID:EPDNEW_H28644
Type:initiation region
Name:PTCHD1_2
Description:patched domain containing 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H28645  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X23,333,721 - 23,333,781EPDNEW
RGD ID:13604922
Promoter ID:EPDNEW_H28645
Type:initiation region
Name:PTCHD1_1
Description:patched domain containing 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H28644  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X23,334,107 - 23,334,167EPDNEW

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
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:10679-156022206)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 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 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 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 Xp22.33-11.3(chrX:675360-46016699)x3 copy number gain See cases [RCV000052328] ChrX:675360..46016699 [GRCh38]
ChrX:636095..45876134 [GRCh37]
ChrX:556095..45761078 [NCBI36]
ChrX:Xp22.33-11.3
pathogenic
GRCh38/hg38 Xp22.11-11.4(chrX:22420237-38834728)x1 copy number loss See cases [RCV000053063] ChrX:22420237..38834728 [GRCh38]
ChrX:22438354..38693981 [GRCh37]
ChrX:22348275..38578925 [NCBI36]
ChrX:Xp22.11-11.4
pathogenic
GRCh38/hg38 Xp22.33-11.23(chrX:10679-48344725)x1 copy number loss See cases [RCV000052981] ChrX:10679..48344725 [GRCh38]
ChrX:60679..48204160 [GRCh37]
ChrX:679..48089104 [NCBI36]
ChrX:Xp22.33-11.23
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 Xp22.33-11.21(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-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: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_173495.2(PTCHD1):c.1538C>T (p.Ser513Phe) single nucleotide variant Malignant melanoma [RCV000073150] ChrX:23393056 [GRCh38]
ChrX:23411173 [GRCh37]
ChrX:23321094 [NCBI36]
ChrX:Xp22.11
not provided
NM_173495.2(PTCHD1):c.1879C>T (p.Gln627Ter) single nucleotide variant Malignant melanoma [RCV000073151] ChrX:23393397 [GRCh38]
ChrX:23411514 [GRCh37]
ChrX:23321435 [NCBI36]
ChrX:Xp22.11
not provided
NM_173495.2(PTCHD1):c.1553G>C (p.Gly518Ala) single nucleotide variant Malignant melanoma [RCV000063957] ChrX:23393071 [GRCh38]
ChrX:23411188 [GRCh37]
ChrX:23321109 [NCBI36]
ChrX:Xp22.11
not provided
NM_173495.3(PTCHD1):c.858T>C (p.Cys286=) single nucleotide variant History of neurodevelopmental disorder [RCV000715312]|not specified [RCV000082701] ChrX:23380097 [GRCh38]
ChrX:23398214 [GRCh37]
ChrX:Xp22.11
benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_173495.3(PTCHD1):c.93G>A (p.Ala31=) single nucleotide variant History of neurodevelopmental disorder [RCV000715792]|not specified [RCV000082702] ChrX:23334968 [GRCh38]
ChrX:23353085 [GRCh37]
ChrX:Xp22.11
benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_173495.3(PTCHD1):c.1230C>A (p.Ile410=) single nucleotide variant not provided [RCV000087254] ChrX:23392748 [GRCh38]
ChrX:23410865 [GRCh37]
ChrX:Xp22.11
uncertain significance
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_173495.3(PTCHD1):c.657C>T (p.Asn219=) single nucleotide variant History of neurodevelopmental disorder [RCV000718696]|not provided [RCV000888781]|not specified [RCV000175998] ChrX:23379896 [GRCh38]
ChrX:23398013 [GRCh37]
ChrX:Xp22.11
benign|likely benign
NM_173495.3(PTCHD1):c.1494C>T (p.Thr498=) single nucleotide variant History of neurodevelopmental disorder [RCV000715458]|not provided [RCV000904211]|not specified [RCV000177420] ChrX:23393012 [GRCh38]
ChrX:23411129 [GRCh37]
ChrX:Xp22.11
benign|likely benign
NM_173495.3(PTCHD1):c.1665G>A (p.Val555=) single nucleotide variant not specified [RCV000177422] ChrX:23393183 [GRCh38]
ChrX:23411300 [GRCh37]
ChrX:Xp22.11
likely benign
NM_173495.3(PTCHD1):c.1835_1839delinsGAA (p.Met612fs) indel Inborn genetic diseases [RCV000190759] ChrX:23393353..23393357 [GRCh38]
ChrX:23411470..23411474 [GRCh37]
ChrX:Xp22.11
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
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)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: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: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)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 Xp22.33-11.23(chrX:10679-50059388)x1 copy number loss See cases [RCV000133745] ChrX:10679..50059388 [GRCh38]
ChrX:60679..49824045 [GRCh37]
ChrX:679..49710785 [NCBI36]
ChrX:Xp22.33-11.23
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 Xp22.11(chrX:23251335-23463809)x2 copy number gain See cases [RCV000134573] ChrX:23251335..23463809 [GRCh38]
ChrX:23269452..23481926 [GRCh37]
ChrX:23179373..23391847 [NCBI36]
ChrX:Xp22.11
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 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 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 Xp22.33-21.1(chrX:233335-37292980)x1 copy number loss See cases [RCV000135299] ChrX:233335..37292980 [GRCh38]
ChrX:150002..37152232 [GRCh37]
ChrX:90002..37037153 [NCBI36]
ChrX:Xp22.33-21.1
pathogenic
GRCh38/hg38 Xp22.2-22.11(chrX:15173626-23952585)x2 copy number gain See cases [RCV000134875] ChrX:15173626..23952585 [GRCh38]
ChrX:15191748..23970702 [GRCh37]
ChrX:15101669..23880623 [NCBI36]
ChrX:Xp22.2-22.11
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 Xp22.33-21.1(chrX:10679-36186635)x1 copy number loss See cases [RCV000135551] ChrX:10679..36186635 [GRCh38]
ChrX:60679..36202463 [GRCh37]
ChrX:679..36114673 [NCBI36]
ChrX:Xp22.33-21.1
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 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 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 Xp22.33-11.22(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 Xp22.33-11.23(chrX:10701-49071220)x1 copy number loss See cases [RCV000137413] ChrX:10701..49071220 [GRCh38]
ChrX:60701..48928877 [GRCh37]
ChrX:701..48815821 [NCBI36]
ChrX:Xp22.33-11.23
pathogenic
GRCh38/hg38 Xp22.33-11.23(chrX:10679-49157514)x1 copy number loss See cases [RCV000137166] ChrX:10679..49157514 [GRCh38]
ChrX:60679..49016667 [GRCh37]
ChrX:679..48903611 [NCBI36]
ChrX:Xp22.33-11.23
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 Xp22.2-21.2(chrX:12254555-30410580)x1 copy number loss See cases [RCV000138069] ChrX:12254555..30410580 [GRCh38]
ChrX:12272674..30428697 [GRCh37]
ChrX:12182595..30338618 [NCBI36]
ChrX:Xp22.2-21.2
pathogenic|likely pathogenic
GRCh38/hg38 Xp22.33-21.1(chrX:10701-37723318)x1 copy number loss See cases [RCV000138019] ChrX:10701..37723318 [GRCh38]
ChrX:60701..37318587 [GRCh37]
ChrX:701..37467510 [NCBI36]
ChrX:Xp22.33-21.1
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 Xp22.33-11.4(chrX:3909315-38682287)x3 copy number gain See cases [RCV000141261] ChrX:3909315..38682287 [GRCh38]
ChrX:3827356..38541541 [GRCh37]
ChrX:3837356..38426485 [NCBI36]
ChrX:Xp22.33-11.4
uncertain significance
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 Xp22.33-11.22(chrX:251879-50289363)x1 copy number loss See cases [RCV000141741] ChrX:251879..50289363 [GRCh38]
ChrX:168546..50032363 [GRCh37]
ChrX:108546..50049103 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.11(chrX:23365175-23699251)x1 copy number gain See cases [RCV000142374] ChrX:23365175..23699251 [GRCh38]
ChrX:23383292..23717368 [GRCh37]
ChrX:23293213..23627289 [NCBI36]
ChrX:Xp22.11
uncertain significance
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 Xp22.11(chrX:23052089-23365234)x0 copy number loss See cases [RCV000142730] ChrX:23052089..23365234 [GRCh38]
ChrX:23070206..23383351 [GRCh37]
ChrX:22980127..23293272 [NCBI36]
ChrX:Xp22.11
uncertain significance
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 Xp22.33-21.1(chrX:251879-35885004)x1 copy number loss See cases [RCV000143496] ChrX:251879..35885004 [GRCh38]
ChrX:168546..35903121 [GRCh37]
ChrX:108546..35813042 [NCBI36]
ChrX:Xp22.33-21.1
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
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_173495.3(PTCHD1):c.1003G>A (p.Val335Ile) single nucleotide variant not provided [RCV000153790] ChrX:23380242 [GRCh38]
ChrX:23398359 [GRCh37]
ChrX:Xp22.11
uncertain significance
NM_173495.3(PTCHD1):c.822C>T (p.Thr274=) single nucleotide variant not provided [RCV000175999] ChrX:23380061 [GRCh38]
ChrX:23398178 [GRCh37]
ChrX:Xp22.11
uncertain significance
NM_173495.3(PTCHD1):c.656A>G (p.Asn219Ser) single nucleotide variant not provided [RCV000176000] ChrX:23379895 [GRCh38]
ChrX:23398012 [GRCh37]
ChrX:Xp22.11
uncertain significance
NM_173495.3(PTCHD1):c.798C>T (p.Arg266=) single nucleotide variant not provided [RCV000724368]|not specified [RCV000194071] ChrX:23380037 [GRCh38]
ChrX:23398154 [GRCh37]
ChrX:Xp22.11
uncertain significance
NM_173495.3(PTCHD1):c.1767G>A (p.Glu589=) single nucleotide variant not provided [RCV000939104]|not specified [RCV000192602] ChrX:23393285 [GRCh38]
ChrX:23411402 [GRCh37]
ChrX:Xp22.11
benign|uncertain significance
NM_173495.3(PTCHD1):c.517A>G (p.Ile173Val) single nucleotide variant Autism, susceptibility to, X-linked 4 [RCV000990551]|not provided [RCV000762610]|not specified [RCV000193034] ChrX:23379756 [GRCh38]
ChrX:23397873 [GRCh37]
ChrX:Xp22.11
uncertain significance
NM_173495.3(PTCHD1):c.1332C>T (p.Val444=) single nucleotide variant History of neurodevelopmental disorder [RCV000716574]|not provided [RCV000958315]|not specified [RCV000193544] ChrX:23392850 [GRCh38]
ChrX:23410967 [GRCh37]
ChrX:Xp22.11
benign|likely benign|uncertain significance
NM_173495.3(PTCHD1):c.2031G>T (p.Val677=) single nucleotide variant not specified [RCV000193610] ChrX:23393549 [GRCh38]
ChrX:23411666 [GRCh37]
ChrX:Xp22.11
uncertain significance
NM_173495.3(PTCHD1):c.1614C>T (p.Thr538=) single nucleotide variant not specified [RCV000194578] ChrX:23393132 [GRCh38]
ChrX:23411249 [GRCh37]
ChrX:Xp22.11
uncertain significance
NM_173495.3(PTCHD1):c.336C>T (p.Thr112=) single nucleotide variant not provided [RCV000933768]|not specified [RCV000194663] ChrX:23335211 [GRCh38]
ChrX:23353328 [GRCh37]
ChrX:Xp22.11
benign|likely benign|uncertain significance
NM_173495.3(PTCHD1):c.1311T>C (p.His437=) single nucleotide variant History of neurodevelopmental disorder [RCV000718721]|not provided [RCV000177418] ChrX:23392829 [GRCh38]
ChrX:23410946 [GRCh37]
ChrX:Xp22.11
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_173495.3(PTCHD1):c.2041G>A (p.Val681Ile) single nucleotide variant History of neurodevelopmental disorder [RCV000719346]|not provided [RCV000177419] ChrX:23393559 [GRCh38]
ChrX:23411676 [GRCh37]
ChrX:Xp22.11
likely benign|uncertain significance
NM_173495.3(PTCHD1):c.1110C>G (p.Asp370Glu) single nucleotide variant not provided [RCV000724382]|not specified [RCV000177421] ChrX:23392628 [GRCh38]
ChrX:23410745 [GRCh37]
ChrX:Xp22.11
likely benign|conflicting interpretations of pathogenicity|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_173495.3(PTCHD1):c.2128del (p.Leu710fs) deletion Autism, susceptibility to, X-linked 4 [RCV000191024] ChrX:23393645 [GRCh38]
ChrX:23411762 [GRCh37]
ChrX:Xp22.11
risk factor
NM_173495.3(PTCHD1):c.1796dup (p.Asn599fs) duplication Autism, susceptibility to, X-linked 4 [RCV000191025] ChrX:23393312..23393313 [GRCh38]
ChrX:23411429..23411430 [GRCh37]
ChrX:Xp22.11
risk factor
NM_173495.3(PTCHD1):c.1444del (p.Leu482fs) deletion Autism, susceptibility to, X-linked 4 [RCV000191026] ChrX:23392961 [GRCh38]
ChrX:23411078 [GRCh37]
ChrX:Xp22.11
risk factor
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 Xp22.33-11.21(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 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-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:553069-155233731)x1 copy number loss See cases [RCV000446026] ChrX:553069..155233731 [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: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:150002-155234036)x3 copy number gain See cases [RCV000240314] ChrX:150002..155234036 [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 Xp22.33-21.1(chrX:71267-35809046)x1 copy number loss See cases [RCV000240335] ChrX:71267..35809046 [GRCh37]
ChrX:Xp22.33-21.1
pathogenic
GRCh37/hg19 Xp22.33-21.3(chrX:1378591-25940311)x2 copy number gain See cases [RCV000240441] ChrX:1378591..25940311 [GRCh37]
ChrX:Xp22.33-21.3
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_173495.3(PTCHD1):c.1547T>A (p.Leu516Ter) single nucleotide variant not provided [RCV000342607] ChrX:23393065 [GRCh38]
ChrX:23411182 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_173495.3(PTCHD1):c.638A>G (p.Tyr213Cys) single nucleotide variant Autism, susceptibility to, X-linked 4 [RCV001270410] ChrX:23379877 [GRCh38]
ChrX:23397994 [GRCh37]
ChrX:Xp22.11
uncertain significance
NM_173495.3(PTCHD1):c.2644G>T (p.Val882Phe) single nucleotide variant not provided [RCV000522434] ChrX:23394162 [GRCh38]
ChrX:23412279 [GRCh37]
ChrX:Xp22.11
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_173495.3(PTCHD1):c.1582C>T (p.Leu528Phe) single nucleotide variant History of neurodevelopmental disorder [RCV000718067]|Inborn genetic diseases [RCV000623041] ChrX:23393100 [GRCh38]
ChrX:23411217 [GRCh37]
ChrX:Xp22.11
uncertain significance
Single allele duplication Syndromic X-linked intellectual disability Lubs type [RCV000768455] ChrX:15323210..153542100 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
NM_173495.3(PTCHD1):c.1243C>T (p.Leu415Phe) single nucleotide variant not provided [RCV000521814] ChrX:23392761 [GRCh38]
ChrX:23410878 [GRCh37]
ChrX:Xp22.11
uncertain significance
NM_173495.3(PTCHD1):c.1878del (p.Gln627fs) deletion not provided [RCV000599453] ChrX:23393393 [GRCh38]
ChrX:23411510 [GRCh37]
ChrX:Xp22.11
likely pathogenic
NM_173495.3(PTCHD1):c.1031C>T (p.Thr344Ile) single nucleotide variant not provided [RCV000732390] ChrX:23392549 [GRCh38]
ChrX:23410666 [GRCh37]
ChrX:Xp22.11
uncertain significance
GRCh37/hg19 Xp22.33-11.23(chrX:60814-48317386)x1 copy number loss not provided [RCV000753273] ChrX:60814..48317386 [GRCh37]
ChrX:Xp22.33-11.23
pathogenic
NM_173495.3(PTCHD1):c.1965_1968AACA[1] (p.Asn657fs) microsatellite not provided [RCV000413638] ChrX:23393482..23393485 [GRCh38]
ChrX:23411599..23411602 [GRCh37]
ChrX:Xp22.11
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 Xp22.33-11.3(chrX:168546-43917011)x3 copy number gain See cases [RCV000449393] ChrX:168546..43917011 [GRCh37]
ChrX:Xp22.33-11.3
pathogenic
NM_173495.3(PTCHD1):c.542A>C (p.Lys181Thr) single nucleotide variant Abnormality of brain morphology [RCV000454174] ChrX:23379781 [GRCh38]
ChrX:23397898 [GRCh37]
ChrX:Xp22.11
likely 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 Xp22.33-11.21(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-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
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:71267-155255792)x1 copy number loss See cases [RCV000446197] ChrX:71267..155255792 [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 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_173495.3(PTCHD1):c.1023A>T (p.Leu341Phe) single nucleotide variant not provided [RCV000433109] ChrX:23392541 [GRCh38]
ChrX:23410658 [GRCh37]
ChrX:Xp22.11
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_173495.3(PTCHD1):c.907G>A (p.Gly303Arg) single nucleotide variant Autism, susceptibility to, X-linked 4 [RCV000477842] ChrX:23380146 [GRCh38]
ChrX:23398263 [GRCh37]
ChrX:Xp22.11
uncertain significance
NM_173495.3(PTCHD1):c.1433dup (p.Tyr478Ter) duplication not provided [RCV000485247] ChrX:23392950..23392951 [GRCh38]
ChrX:23411067..23411068 [GRCh37]
ChrX:Xp22.11
likely pathogenic
NM_173495.3(PTCHD1):c.2T>C (p.Met1Thr) single nucleotide variant not provided [RCV000478083] ChrX:23334877 [GRCh38]
ChrX:23352994 [GRCh37]
ChrX:Xp22.11
likely pathogenic
GRCh37/hg19 Xp22.33-21.1(chrX:168546-37515849)x1 copy number loss See cases [RCV000510590] ChrX:168546..37515849 [GRCh37]
ChrX:Xp22.33-21.1
pathogenic
NM_173495.3(PTCHD1):c.2313G>T (p.Met771Ile) single nucleotide variant not provided [RCV000498997] ChrX:23393831 [GRCh38]
ChrX:23411948 [GRCh37]
ChrX:Xp22.11
uncertain significance
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_173495.3(PTCHD1):c.113T>A (p.Leu38Gln) single nucleotide variant Autism, susceptibility to, X-linked 4 [RCV000496541] ChrX:23334988 [GRCh38]
ChrX:23353105 [GRCh37]
ChrX:Xp22.11
uncertain significance
NM_173495.3(PTCHD1):c.893G>A (p.Trp298Ter) single nucleotide variant Autism, susceptibility to, X-linked 4 [RCV000500682] ChrX:23380132 [GRCh38]
ChrX:23398249 [GRCh37]
ChrX:Xp22.11
likely pathogenic
GRCh37/hg19 Xp22.33-21.1(chrX:168546-35841052)x1 copy number loss See cases [RCV000510308] ChrX:168546..35841052 [GRCh37]
ChrX:Xp22.33-21.1
pathogenic
NM_173495.3(PTCHD1):c.1163T>G (p.Ile388Arg) single nucleotide variant not specified [RCV000502445] ChrX:23392681 [GRCh38]
ChrX:23410798 [GRCh37]
ChrX:Xp22.11
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
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
NM_173495.3(PTCHD1):c.881G>A (p.Arg294His) single nucleotide variant not provided [RCV000508242] ChrX:23380120 [GRCh38]
ChrX:23398237 [GRCh37]
ChrX:Xp22.11
uncertain significance
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 Xp22.33-21.2(chrX:168546-31085327)x1 copy number loss See cases [RCV000511350] ChrX:168546..31085327 [GRCh37]
ChrX:Xp22.33-21.2
pathogenic
GRCh37/hg19 Xp22.2-21.2(chrX:15290524-29747172)x2 copy number gain See cases [RCV000511443] ChrX:15290524..29747172 [GRCh37]
ChrX:Xp22.2-21.2
likely pathogenic
GRCh37/hg19 Xp22.11(chrX:23351370-23449835)x0 copy number loss See cases [RCV000511419] ChrX:23351370..23449835 [GRCh37]
ChrX:Xp22.11
pathogenic
GRCh37/hg19 Xp22.11(chrX:23385757-23448084)x0 copy number loss See cases [RCV000511820] ChrX:23385757..23448084 [GRCh37]
ChrX:Xp22.11
uncertain significance
NM_173495.3(PTCHD1):c.1013-12C>G single nucleotide variant not specified [RCV000507486] ChrX:23392519 [GRCh38]
ChrX:23410636 [GRCh37]
ChrX:Xp22.11
benign
GRCh37/hg19 Xp22.11(chrX:23340817-23395070)x1 copy number loss See cases [RCV000511588] ChrX:23340817..23395070 [GRCh37]
ChrX:Xp22.11
likely benign
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
GRCh37/hg19 Xp22.11(chrX:23375707-23448084)x0 copy number loss See cases [RCV000512361] ChrX:23375707..23448084 [GRCh37]
ChrX:Xp22.11
uncertain significance
GRCh37/hg19 Xp22.33-22.11(chrX:168546-24780527)x3 copy number gain See cases [RCV000512204] ChrX:168546..24780527 [GRCh37]
ChrX:Xp22.33-22.11
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
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_173495.3(PTCHD1):c.590_603del (p.Val197fs) deletion Inborn genetic diseases [RCV000624369] ChrX:23379829..23379842 [GRCh38]
ChrX:23397946..23397959 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_173495.3(PTCHD1):c.1013-2A>G single nucleotide variant not provided [RCV000658175] ChrX:23392529 [GRCh38]
ChrX:23410646 [GRCh37]
ChrX:Xp22.11
uncertain significance
NM_173495.3(PTCHD1):c.817G>T (p.Val273Phe) single nucleotide variant History of neurodevelopmental disorder [RCV000719789]|not provided [RCV000916130] ChrX:23380056 [GRCh38]
ChrX:23398173 [GRCh37]
ChrX:Xp22.11
benign|uncertain significance
GRCh37/hg19 Xp22.33-11.23(chrX:168546-46908284)x1 copy number loss not provided [RCV000684185] ChrX:168546..46908284 [GRCh37]
ChrX:Xp22.33-11.23
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 Xp22.11-21.3(chrX:23371361-25493197)x3 copy number gain not provided [RCV000684291] ChrX:23371361..25493197 [GRCh37]
ChrX:Xp22.11-21.3
uncertain significance
GRCh37/hg19 Xp22.33-22.11(chrX:168546-23785738)x1 copy number loss not provided [RCV000684183] ChrX:168546..23785738 [GRCh37]
ChrX:Xp22.33-22.11
pathogenic
GRCh37/hg19 Xp22.33-11.3(chrX:168546-43248706)x1 copy number loss not provided [RCV000684184] ChrX:168546..43248706 [GRCh37]
ChrX:Xp22.33-11.3
pathogenic
GRCh37/hg19 Xp22.11(chrX:23373804-24332336)x2 copy number gain not provided [RCV000684292] ChrX:23373804..24332336 [GRCh37]
ChrX:Xp22.11
uncertain significance
GRCh37/hg19 Xp22.11(chrX:23358556-23569512)x2 copy number gain not provided [RCV000684290] ChrX:23358556..23569512 [GRCh37]
ChrX:Xp22.11
uncertain significance
NM_173495.3(PTCHD1):c.753T>G (p.Pro251=) single nucleotide variant History of neurodevelopmental disorder [RCV000716010] ChrX:23379992 [GRCh38]
ChrX:23398109 [GRCh37]
ChrX:Xp22.11
likely benign
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_173495.3(PTCHD1):c.163C>T (p.Leu55=) single nucleotide variant History of neurodevelopmental disorder [RCV000718503] ChrX:23335038 [GRCh38]
ChrX:23353155 [GRCh37]
ChrX:Xp22.11
likely benign
NM_173495.3(PTCHD1):c.836T>C (p.Val279Ala) single nucleotide variant History of neurodevelopmental disorder [RCV000719991] ChrX:23380075 [GRCh38]
ChrX:23398192 [GRCh37]
ChrX:Xp22.11
uncertain significance
NM_173495.3(PTCHD1):c.115C>T (p.Leu39Phe) single nucleotide variant History of neurodevelopmental disorder [RCV000719136] ChrX:23334990 [GRCh38]
ChrX:23353107 [GRCh37]
ChrX:Xp22.11
uncertain significance
NM_173495.3(PTCHD1):c.1021T>C (p.Leu341=) single nucleotide variant History of neurodevelopmental disorder [RCV000719290] ChrX:23392539 [GRCh38]
ChrX:23410656 [GRCh37]
ChrX:Xp22.11
likely 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
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)x1 copy number loss not provided [RCV000753271] ChrX:60262..155245765 [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:181779-155171702)x1 copy number loss not provided [RCV000753278] ChrX:181779..155171702 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NC_000023.10:g.23209046_23463336del254291 deletion Primary amenorrhea [RCV000754477] ChrX:23190929..23445219 [GRCh38]
ChrX:23209046..23463336 [GRCh37]
ChrX:Xp22.11
likely benign
GRCh37/hg19 Xp22.33-q28(chrX:60814-155236712)x2 copy number gain not provided [RCV000753276] ChrX:60814..155236712 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
Single allele duplication Autistic disorder of childhood onset [RCV000754365] ChrX:1..156040895 [GRCh38]
ChrX:Xp22.33-q28
pathogenic
NM_173495.3(PTCHD1):c.95C>T (p.Pro32Leu) single nucleotide variant Autism, susceptibility to, X-linked 4 [RCV000760206] ChrX:23334970 [GRCh38]
ChrX:23353087 [GRCh37]
ChrX:Xp22.11
uncertain significance
NM_173495.3(PTCHD1):c.2535A>G (p.Ile845Met) single nucleotide variant not provided [RCV000762611] ChrX:23394053 [GRCh38]
ChrX:23412170 [GRCh37]
ChrX:Xp22.11
uncertain significance
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
Single allele deletion Neurodevelopmental disorder [RCV000787440] ChrX:1..47140860 [GRCh37]
ChrX:Xp22.33-11.23
pathogenic
NM_173495.3(PTCHD1):c.117C>G (p.Leu39=) single nucleotide variant not provided [RCV000899505] ChrX:23334992 [GRCh38]
ChrX:23353109 [GRCh37]
ChrX:Xp22.11
likely benign
GRCh37/hg19 Xp22.33-21.1(chrX:168546-34753512)x1 copy number loss not provided [RCV001007559] ChrX:168546..34753512 [GRCh37]
ChrX:Xp22.33-21.1
pathogenic
GRCh37/hg19 Xp22.33-22.11(chrX:801301-23768392) copy number gain not provided [RCV000767802] ChrX:801301..23768392 [GRCh37]
ChrX:Xp22.33-22.11
pathogenic
GRCh37/hg19 Xp22.11(chrX:22946630-23481118)x3 copy number gain not provided [RCV000849086] ChrX:22946630..23481118 [GRCh37]
ChrX:Xp22.11
uncertain significance
GRCh37/hg19 Xp22.33-22.11(chrX:2190434-23795839)x3 copy number gain not provided [RCV000849574] ChrX:2190434..23795839 [GRCh37]
ChrX:Xp22.33-22.11
pathogenic
Single allele duplication not provided [RCV000844963] ChrX:23351116..23530035 [GRCh37]
ChrX:Xp22.11
not provided
GRCh37/hg19 Xp22.11(chrX:23195843-23457401)x0 copy number loss not provided [RCV000846046] ChrX:23195843..23457401 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_173495.3(PTCHD1):c.1575dup (p.Ser526fs) duplication not provided [RCV001008414] ChrX:23393090..23393091 [GRCh38]
ChrX:23411207..23411208 [GRCh37]
ChrX:Xp22.11
likely pathogenic
GRCh37/hg19 Xp22.12-21.1(chrX:20925922-35511818)x1 copy number loss not provided [RCV000847678] ChrX:20925922..35511818 [GRCh37]
ChrX:Xp22.12-21.1
pathogenic
GRCh37/hg19 Xp22.33-11.4(chrX:168546-38054739)x1 copy number loss not provided [RCV000845671] ChrX:168546..38054739 [GRCh37]
ChrX:Xp22.33-11.4
pathogenic
NM_173495.3(PTCHD1):c.588_589TG[1] (p.Val197fs) microsatellite not provided [RCV001009260] ChrX:23379827..23379828 [GRCh38]
ChrX:23397944..23397945 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_173495.3(PTCHD1):c.2525dup (p.Leu842fs) duplication not provided [RCV001171621] ChrX:23394039..23394040 [GRCh38]
ChrX:23412156..23412157 [GRCh37]
ChrX:Xp22.11
uncertain significance
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 Xp22.11(chrX:23265411-23414872)x3 copy number gain not provided [RCV000846151] ChrX:23265411..23414872 [GRCh37]
ChrX:Xp22.11
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
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_173495.3(PTCHD1):c.2317T>G (p.Ser773Ala) single nucleotide variant not provided [RCV000895895] ChrX:23393835 [GRCh38]
ChrX:23411952 [GRCh37]
ChrX:Xp22.11
benign
GRCh37/hg19 Xp22.11(chrX:23351116-23530035)x3 copy number gain not provided [RCV001249214] ChrX:23351116..23530035 [GRCh37]
ChrX:Xp22.11
not provided
NM_173495.3(PTCHD1):c.466G>A (p.Val156Ile) single nucleotide variant not provided [RCV000913338] ChrX:23379705 [GRCh38]
ChrX:23397822 [GRCh37]
ChrX:Xp22.11
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_173495.3(PTCHD1):c.47G>A (p.Arg16Gln) single nucleotide variant Autism, susceptibility to, X-linked 4 [RCV001253254] ChrX:23334922 [GRCh38]
ChrX:23353039 [GRCh37]
ChrX:Xp22.11
uncertain significance
NM_173495.3(PTCHD1):c.592C>T (p.His198Tyr) single nucleotide variant not provided [RCV001092574] ChrX:23379831 [GRCh38]
ChrX:23397948 [GRCh37]
ChrX:Xp22.11
uncertain significance
NM_173495.3(PTCHD1):c.1290C>A (p.Tyr430Ter) single nucleotide variant not provided [RCV001092576] ChrX:23392808 [GRCh38]
ChrX:23410925 [GRCh37]
ChrX:Xp22.11
likely pathogenic
NM_173495.3(PTCHD1):c.714A>T (p.Arg238Ser) single nucleotide variant not provided [RCV001092575] ChrX:23379953 [GRCh38]
ChrX:23398070 [GRCh37]
ChrX:Xp22.11
uncertain significance
NM_173495.3(PTCHD1):c.898G>C (p.Gly300Arg) single nucleotide variant Autism spectrum disorder [RCV001252599] ChrX:23380137 [GRCh38]
ChrX:23398254 [GRCh37]
ChrX:Xp22.11
likely pathogenic
NM_173495.3(PTCHD1):c.2502CTT[1] (p.Phe836del) microsatellite Inborn genetic diseases [RCV001266157] ChrX:23394020..23394022 [GRCh38]
ChrX:23412137..23412139 [GRCh37]
ChrX:Xp22.11
uncertain significance
NM_173495.3(PTCHD1):c.928G>C (p.Ala310Pro) single nucleotide variant Rare genetic intellectual disability [RCV001256994] ChrX:23380167 [GRCh38]
ChrX:23398284 [GRCh37]
ChrX:Xp22.11
likely pathogenic
NM_173495.3(PTCHD1):c.1794_1806del (p.Asn599fs) deletion not provided [RCV001267904] ChrX:23393309..23393321 [GRCh38]
ChrX:23411426..23411438 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_173495.3(PTCHD1):c.1985_1986del (p.Leu661_Tyr662insTer) deletion Non-syndromic X-linked intellectual disability [RCV001265487] ChrX:23393502..23393503 [GRCh38]
ChrX:23411619..23411620 [GRCh37]
ChrX:Xp22.11
likely pathogenic
GRCh37/hg19 Xp22.11(chrX:23395622-23463363)x0 copy number loss Non-syndromic X-linked intellectual disability [RCV001265129] ChrX:23395622..23463363 [GRCh37]
ChrX:Xp22.11
pathogenic
GRCh37/hg19 Xp22.11(chrX:22463390-23406620)x2 copy number gain not provided [RCV001259451] ChrX:22463390..23406620 [GRCh37]
ChrX:Xp22.11
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_173495.3(PTCHD1):c.1435G>A (p.Glu479Lys) single nucleotide variant Autism, susceptibility to, X-linked 4 [RCV001270401] ChrX:23392953 [GRCh38]
ChrX:23411070 [GRCh37]
ChrX:Xp22.11
uncertain significance
NM_173495.3(PTCHD1):c.1975GAA[1] (p.Glu660del) microsatellite Autism, susceptibility to, X-linked 4 [RCV001270404] ChrX:23393492..23393494 [GRCh38]
ChrX:23411609..23411611 [GRCh37]
ChrX:Xp22.11
uncertain significance
NM_173495.3(PTCHD1):c.2548C>A (p.Pro850Thr) single nucleotide variant PTCHD1-related autism and intellectual disability [RCV001270852] ChrX:23394066 [GRCh38]
ChrX:23412183 [GRCh37]
ChrX:Xp22.11
uncertain significance
NM_173495.3(PTCHD1):c.1751G>A (p.Arg584Gln) single nucleotide variant not provided [RCV001311826] ChrX:23393269 [GRCh38]
ChrX:23411386 [GRCh37]
ChrX:Xp22.11
uncertain significance
NM_173495.3(PTCHD1):c.1473C>T (p.Tyr491=) single nucleotide variant not provided [RCV001311825] ChrX:23392991 [GRCh38]
ChrX:23411108 [GRCh37]
ChrX:Xp22.11
likely benign

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:26392 AgrOrtholog
COSMIC PTCHD1 COSMIC
Ensembl Genes ENSG00000165186 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000368666 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000406663 UniProtKB/TrEMBL
Ensembl Transcript ENST00000379361 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000456522 UniProtKB/TrEMBL
GTEx ENSG00000165186 GTEx
HGNC ID HGNC:26392 ENTREZGENE
Human Proteome Map PTCHD1 Human Proteome Map
InterPro Ptc/Disp UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:139411 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 139411 ENTREZGENE
OMIM 300828 OMIM
  300830 OMIM
Pfam Patched UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134942420 PharmGKB
PROSITE SSD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt H7C2M0_HUMAN UniProtKB/TrEMBL
  PTHD1_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  X5D343_HUMAN UniProtKB/TrEMBL
  X5D9N8_HUMAN UniProtKB/TrEMBL
  X5DNX9 ENTREZGENE, UniProtKB/TrEMBL
UniProt Secondary B4DQH0 UniProtKB/Swiss-Prot
  Q0IJ60 UniProtKB/Swiss-Prot
  Q6P6B8 UniProtKB/Swiss-Prot