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:26392
Description: Involved in cognition and smoothened signaling pathway. Located in plasma membrane. Implicated in autistic disorder.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: AUTSX4; CXDELp22.11; DELXP22.11; 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
GRCh38X23,334,396 - 23,404,374 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 EnsemblX23,334,849 - 23,404,374 (+)EnsemblGRCh38hg38GRCh38
GRCh37X23,352,966 - 23,422,491 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X23,262,906 - 23,324,839 (+)NCBINCBI36Build 36hg18NCBI36
Build 34X23,112,751 - 23,172,076NCBI
CeleraX27,474,669 - 27,536,553 (+)NCBICelera
Cytogenetic MapXp22.11NCBI
HuRefX21,094,048 - 21,155,060 (+)NCBIHuRef
CHM1_1X23,384,049 - 23,445,953 (+)NCBICHM1_1
T2T-CHM13v2.0X22,917,921 - 22,987,936 (+)NCBIT2T-CHM13v2.0
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
membrane  (IEA)
plasma membrane  (IBA,IDA,IEA)
synapse  (IBA,IEA)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
3. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
5. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
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:32513696   PMID:32694731   PMID:33856728   PMID:38007613   PMID:38275824  


Genomics

Comparative Map Data
PTCHD1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38X23,334,396 - 23,404,374 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 EnsemblX23,334,849 - 23,404,374 (+)EnsemblGRCh38hg38GRCh38
GRCh37X23,352,966 - 23,422,491 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X23,262,906 - 23,324,839 (+)NCBINCBI36Build 36hg18NCBI36
Build 34X23,112,751 - 23,172,076NCBI
CeleraX27,474,669 - 27,536,553 (+)NCBICelera
Cytogenetic MapXp22.11NCBI
HuRefX21,094,048 - 21,155,060 (+)NCBIHuRef
CHM1_1X23,384,049 - 23,445,953 (+)NCBICHM1_1
T2T-CHM13v2.0X22,917,921 - 22,987,936 (+)NCBIT2T-CHM13v2.0
Ptchd1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X154,352,732 - 154,407,185 (-)NCBIGRCm39GRCm39mm39
GRCm39 EnsemblX154,356,451 - 154,406,810 (-)EnsemblGRCm39 Ensembl
GRCm38X155,569,736 - 155,624,170 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX155,573,455 - 155,623,814 (-)EnsemblGRCm38mm10GRCm38
MGSCv37X152,004,279 - 152,057,870 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36X150,914,257 - 150,964,043 (-)NCBIMGSCv36mm8
CeleraX138,872,944 - 138,926,972 (-)NCBICelera
Cytogenetic MapXF3NCBI
cM MapX72.38NCBI
Ptchd1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8X43,496,907 - 43,548,413 (+)NCBIGRCr8
mRatBN7.2X39,681,910 - 39,733,416 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 EnsemblX39,681,910 - 39,733,519 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_UtxX40,905,386 - 40,956,900 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0X44,372,699 - 44,424,207 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0X42,057,286 - 42,108,794 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0X42,558,912 - 42,610,430 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 EnsemblX42,558,931 - 42,614,242 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0X42,866,040 - 42,917,474 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X61,079,670 - 61,131,155 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
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
NHGRI_mPanPan1-v2X25,131,355 - 25,192,568 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1X25,134,743 - 25,195,957 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0X15,929,619 - 15,991,194 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1X23,305,555 - 23,366,273 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX23,305,555 - 23,366,273 (+)Ensemblpanpan1.1panPan2
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 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 EnsemblX19,049,225 - 19,101,569 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1X19,089,857 - 19,144,818 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0X19,119,773 - 19,174,752 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0X19,176,247 - 19,231,008 (+)NCBIUU_Cfam_GSD_1.0
Ptchd1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X12,031,839 - 12,087,657 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049366241,072,857 - 1,125,994 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049366241,072,857 - 1,125,962 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PTCHD1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX19,507,739 - 19,561,828 (+)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 - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X21,810,530 - 21,874,109 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 EnsemblX21,810,956 - 21,870,417 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605623,674,097 - 23,736,621 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Ptchd1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248298,458,628 - 8,512,511 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248298,458,430 - 8,513,011 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in PTCHD1
173 total Variants

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 Inborn genetic diseases [RCV002311742]|not provided [RCV001711584]|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 Inborn genetic diseases [RCV002311743]|not provided [RCV001540522]|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
NM_173495.3(PTCHD1):c.95C>G (p.Pro32Arg) single nucleotide variant Intellectual disability [RCV001374406] ChrX:23334970 [GRCh38]
ChrX:23353087 [GRCh37]
ChrX:Xp22.11		 likely pathogenic
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 Inborn genetic diseases [RCV002317019]|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 Inborn genetic diseases [RCV002312724]|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 Inborn genetic diseases [RCV002399635]|not provided [RCV001762401]|not specified [RCV000177422] ChrX:23393183 [GRCh38]
ChrX:23411300 [GRCh37]
ChrX:Xp22.11		 benign|likely benign
NM_173495.3(PTCHD1):c.167T>G (p.Leu56Arg) single nucleotide variant not provided [RCV003159302] ChrX:23335042 [GRCh38]
ChrX:23353159 [GRCh37]
ChrX:Xp22.11		 uncertain significance
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
NM_173495.3(PTCHD1):c.2327T>C (p.Val776Ala) single nucleotide variant not provided [RCV001572493] ChrX:23393845 [GRCh38]
ChrX:23411962 [GRCh37]
ChrX:Xp22.11		 uncertain significance
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]|Inborn genetic diseases [RCV002336516]|PTCHD1-related condition [RCV003937711]|not provided [RCV000762610]|not specified [RCV000193034] ChrX:23379756 [GRCh38]
ChrX:23397873 [GRCh37]
ChrX:Xp22.11		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_173495.3(PTCHD1):c.1332C>T (p.Val444=) single nucleotide variant Inborn genetic diseases [RCV002315493]|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 Inborn genetic diseases [RCV002317034]|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 Inborn genetic diseases [RCV002317035]|not provided [RCV000177419] ChrX:23393559 [GRCh38]
ChrX:23411676 [GRCh37]
ChrX:Xp22.11		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_173495.3(PTCHD1):c.1110C>G (p.Asp370Glu) single nucleotide variant Inborn genetic diseases [RCV002517710]|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|likely pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:61545-155226048)x2 copy number gain Klinefelter syndrome [RCV002282732] ChrX:61545..155226048 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
NM_173495.3(PTCHD1):c.638A>G (p.Tyr213Cys) single nucleotide variant Autism, susceptibility to, X-linked 4 [RCV001270410]|Intellectual disability [RCV001374409] ChrX:23379877 [GRCh38]
ChrX:23397994 [GRCh37]
ChrX:Xp22.11		 likely pathogenic|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.1199G>C (p.Arg400Thr) single nucleotide variant not provided [RCV002280251] ChrX:23392717 [GRCh38]
ChrX:23410834 [GRCh37]
ChrX:Xp22.11		 uncertain significance
NM_173495.3(PTCHD1):c.1946T>G (p.Leu649Trp) single nucleotide variant not provided [RCV003314159] ChrX:23393464 [GRCh38]
ChrX:23411581 [GRCh37]
ChrX:Xp22.11		 uncertain significance
NM_173495.3(PTCHD1):c.1582C>T (p.Leu528Phe) single nucleotide variant 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.1969_1972del (p.Asn657fs) microsatellite not provided [RCV000413638] ChrX:23393482..23393485 [GRCh38]
ChrX:23411599..23411602 [GRCh37]
ChrX:Xp22.11		 pathogenic|likely 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 Abnormal brain morphology [RCV000454174]|Autism, susceptibility to, X-linked 4 [RCV001808828] 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 provided [RCV001698668]|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 Inborn genetic diseases [RCV002316871]|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 Inborn genetic diseases [RCV002312425] 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 Inborn genetic diseases [RCV002315457] ChrX:23335038 [GRCh38]
ChrX:23353155 [GRCh37]
ChrX:Xp22.11		 likely benign
NM_173495.3(PTCHD1):c.836T>C (p.Val279Ala) single nucleotide variant Inborn genetic diseases [RCV002317475]|not provided [RCV003442058] ChrX:23380075 [GRCh38]
ChrX:23398192 [GRCh37]
ChrX:Xp22.11		 uncertain significance
NM_173495.3(PTCHD1):c.115C>T (p.Leu39Phe) single nucleotide variant Autism, susceptibility to, X-linked 4 [RCV002499318]|Inborn genetic diseases [RCV002318701] ChrX:23334990 [GRCh38]
ChrX:23353107 [GRCh37]
ChrX:Xp22.11		 uncertain significance
NM_173495.3(PTCHD1):c.1021T>C (p.Leu341=) single nucleotide variant Inborn genetic diseases [RCV002318782] 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 Autism [RCV000754365] ChrX:1..156040895 [GRCh38]
ChrX:Xp22.33-q28		 pathogenic
NM_173495.3(PTCHD1):c.1012+5T>C single nucleotide variant Inborn genetic diseases [RCV002458507]|not provided [RCV001529015]|not specified [RCV001703115] ChrX:23380256 [GRCh38]
ChrX:23398373 [GRCh37]
ChrX:Xp22.11		 benign|likely benign
NM_173495.3(PTCHD1):c.*225AC[26] microsatellite not provided [RCV001647875] ChrX:23394409..23394410 [GRCh38]
ChrX:23412526..23412527 [GRCh37]
ChrX:Xp22.11		 benign
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.1928T>C (p.Val643Ala) single nucleotide variant not provided [RCV003314806] ChrX:23393446 [GRCh38]
ChrX:23411563 [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
NM_173495.3(PTCHD1):c.116T>A (p.Leu39His) single nucleotide variant not provided [RCV002280290] ChrX:23334991 [GRCh38]
ChrX:23353108 [GRCh37]
ChrX:Xp22.11		 uncertain significance
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.590_591del (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.18G>A (p.Leu6=) single nucleotide variant not provided [RCV001564196] ChrX:23334893 [GRCh38]
ChrX:23353010 [GRCh37]
ChrX:Xp22.11		 likely benign
NC_000023.11:g.23334788GCC[10] microsatellite not provided [RCV001570390] ChrX:23334788..23334790 [GRCh38]
ChrX:23352905..23352907 [GRCh37]
ChrX:Xp22.11		 likely benign
NM_173495.3(PTCHD1):c.352-297C>T single nucleotide variant not provided [RCV001651656] ChrX:23379294 [GRCh38]
ChrX:23397411 [GRCh37]
ChrX:Xp22.11		 benign
NM_173495.3(PTCHD1):c.1013-158T>C single nucleotide variant not provided [RCV001562844] ChrX:23392373 [GRCh38]
ChrX:23410490 [GRCh37]
ChrX:Xp22.11		 likely benign
NM_173495.3(PTCHD1):c.*225AC[28] microsatellite not provided [RCV001639845] ChrX:23394409..23394410 [GRCh38]
ChrX:23412526..23412527 [GRCh37]
ChrX:Xp22.11		 benign
NM_173495.3(PTCHD1):c.808C>T (p.Arg270Cys) single nucleotide variant not provided [RCV001665159] ChrX:23380047 [GRCh38]
ChrX:23398164 [GRCh37]
ChrX:Xp22.11		 uncertain significance
NM_173495.3(PTCHD1):c.1434C>G (p.Tyr478Ter) single nucleotide variant Autism, susceptibility to, X-linked 4 [RCV001650488] ChrX:23392952 [GRCh38]
ChrX:23411069 [GRCh37]
ChrX:Xp22.11		 likely 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
NM_173495.3(PTCHD1):c.1013-24T>C single nucleotide variant not provided [RCV001578016] ChrX:23392507 [GRCh38]
ChrX:23410624 [GRCh37]
ChrX:Xp22.11		 likely benign
NM_173495.3(PTCHD1):c.1958C>G (p.Thr653Ser) single nucleotide variant not provided [RCV003230107] ChrX:23393476 [GRCh38]
ChrX:23411593 [GRCh37]
ChrX:Xp22.11		 uncertain significance
NM_173495.3(PTCHD1):c.*225AC[27] microsatellite not provided [RCV001598144] ChrX:23394409..23394410 [GRCh38]
ChrX:23412526..23412527 [GRCh37]
ChrX:Xp22.11		 benign
NC_000023.11:g.23334807C>T single nucleotide variant not provided [RCV001558289] ChrX:23334807 [GRCh38]
ChrX:23352924 [GRCh37]
ChrX:Xp22.11		 likely benign
NM_173495.3(PTCHD1):c.491G>A (p.Arg164Gln) single nucleotide variant not provided [RCV001586689] ChrX:23379730 [GRCh38]
ChrX:23397847 [GRCh37]
ChrX:Xp22.11		 likely benign|conflicting interpretations of pathogenicity
GRCh37/hg19 Xp22.33-q28(chrX:200855-155240074) copy number gain Klinefelter syndrome [RCV003236730] ChrX:200855..155240074 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
NM_173495.3(PTCHD1):c.2097_2098insA (p.Leu700fs) insertion Autism, susceptibility to, X-linked 4 [RCV003236647] ChrX:23393615..23393616 [GRCh38]
ChrX:23411732..23411733 [GRCh37]
ChrX:Xp22.11		 likely pathogenic
NM_173495.3(PTCHD1):c.1416C>T (p.Gly472=) single nucleotide variant Inborn genetic diseases [RCV002388596]|not provided [RCV001561258] ChrX:23392934 [GRCh38]
ChrX:23411051 [GRCh37]
ChrX:Xp22.11		 likely benign
NM_173495.3(PTCHD1):c.2475G>A (p.Arg825=) single nucleotide variant not provided [RCV001639570] ChrX:23393993 [GRCh38]
ChrX:23412110 [GRCh37]
ChrX:Xp22.11		 benign
NM_173495.3(PTCHD1):c.1013-26G>C single nucleotide variant not provided [RCV001654538] ChrX:23392505 [GRCh38]
ChrX:23410622 [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.*225AC[24] microsatellite not provided [RCV001645755] ChrX:23394409..23394410 [GRCh38]
ChrX:23412526..23412527 [GRCh37]
ChrX:Xp22.11		 benign
NM_173495.3(PTCHD1):c.*225AC[22] microsatellite not provided [RCV001670904] ChrX:23394409..23394410 [GRCh38]
ChrX:23412526..23412527 [GRCh37]
ChrX:Xp22.11		 benign
NM_173495.3(PTCHD1):c.2508T>A (p.Phe836Leu) single nucleotide variant Inborn genetic diseases [RCV002458567]|PTCHD1-related condition [RCV003948694]|not provided [RCV001724711] ChrX:23394026 [GRCh38]
ChrX:23412143 [GRCh37]
ChrX:Xp22.11		 benign|likely benign|uncertain significance
NM_173495.3(PTCHD1):c.*225AC[23] microsatellite not provided [RCV001724580] ChrX:23394409..23394410 [GRCh38]
ChrX:23412526..23412527 [GRCh37]
ChrX:Xp22.11		 benign
NM_173495.3(PTCHD1):c.714A>T (p.Arg238Ser) single nucleotide variant Inborn genetic diseases [RCV002365794]|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
GRCh37/hg19 Xp22.33-11.22(chrX:168546-52573789) copy number loss Turner syndrome [RCV002280669] ChrX:168546..52573789 [GRCh37]
ChrX:Xp22.33-11.22		 pathogenic
Single allele complex Turner syndrome [RCV002280670] ChrX:590376..56315041 [GRCh37]
ChrX:Xp22.33-11.21		 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
NM_173495.3(PTCHD1):c.1235T>A (p.Phe412Tyr) single nucleotide variant not provided [RCV002284784] ChrX:23392753 [GRCh38]
ChrX:23410870 [GRCh37]
ChrX:Xp22.11		 uncertain significance
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-q28(chrX:1-155270560) copy number loss Turner syndrome [RCV002280668] ChrX:1..155270560 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:1-155270560) copy number gain 46,XX sex reversal 1 [RCV002280665]|Hypotonia [RCV002280667]|Trisomy X syndrome [RCV002280666] ChrX:1..155270560 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
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.1957A>G (p.Thr653Ala) single nucleotide variant not provided [RCV002284687] ChrX:23393475 [GRCh38]
ChrX:23411592 [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 Inborn genetic diseases [RCV002395662]|not provided [RCV001311825] ChrX:23392991 [GRCh38]
ChrX:23411108 [GRCh37]
ChrX:Xp22.11		 benign|likely benign
GRCh37/hg19 Xp22.33-q28(chrX:60000-155234966)x1 copy number loss not provided [RCV001537933] ChrX:60000..155234966 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
NM_173495.3(PTCHD1):c.466G>C (p.Val156Leu) single nucleotide variant not specified [RCV001375545] ChrX:23379705 [GRCh38]
ChrX:23397822 [GRCh37]
ChrX:Xp22.11		 uncertain significance
NM_173495.3(PTCHD1):c.1012+269T>G single nucleotide variant not provided [RCV001691174] ChrX:23380520 [GRCh38]
ChrX:23398637 [GRCh37]
ChrX:Xp22.11		 benign
NC_000023.11:g.23334788GCC[12] microsatellite not provided [RCV001708866] ChrX:23334787..23334788 [GRCh38]
ChrX:23352904..23352905 [GRCh37]
ChrX:Xp22.11		 benign
NM_173495.3(PTCHD1):c.145G>A (p.Glu49Lys) single nucleotide variant See cases [RCV002252968] ChrX:23335020 [GRCh38]
ChrX:23353137 [GRCh37]
ChrX:Xp22.11		 uncertain significance
NM_173495.3(PTCHD1):c.*9G>C single nucleotide variant not provided [RCV001732766] ChrX:23394194 [GRCh38]
ChrX:23412311 [GRCh37]
ChrX:Xp22.11		 likely benign
NM_173495.3(PTCHD1):c.1804A>G (p.Thr602Ala) single nucleotide variant not provided [RCV001758076] ChrX:23393322 [GRCh38]
ChrX:23411439 [GRCh37]
ChrX:Xp22.11		 uncertain significance
NM_173495.3(PTCHD1):c.2231T>C (p.Leu744Ser) single nucleotide variant not provided [RCV001769304] ChrX:23393749 [GRCh38]
ChrX:23411866 [GRCh37]
ChrX:Xp22.11		 uncertain significance
NM_173495.3(PTCHD1):c.1186A>C (p.Ile396Leu) single nucleotide variant not provided [RCV001767006] ChrX:23392704 [GRCh38]
ChrX:23410821 [GRCh37]
ChrX:Xp22.11		 uncertain significance
NM_173495.3(PTCHD1):c.1300A>G (p.Asn434Asp) single nucleotide variant not provided [RCV001767170] ChrX:23392818 [GRCh38]
ChrX:23410935 [GRCh37]
ChrX:Xp22.11		 uncertain significance
NM_173495.3(PTCHD1):c.2048A>G (p.Asn683Ser) single nucleotide variant not provided [RCV001770738] ChrX:23393566 [GRCh38]
ChrX:23411683 [GRCh37]
ChrX:Xp22.11		 uncertain significance
NM_173495.3(PTCHD1):c.2094C>A (p.Ala698=) single nucleotide variant not provided [RCV001774798] ChrX:23393612 [GRCh38]
ChrX:23411729 [GRCh37]
ChrX:Xp22.11		 likely benign
NM_173495.3(PTCHD1):c.552G>A (p.Arg184=) single nucleotide variant not provided [RCV001733094] ChrX:23379791 [GRCh38]
ChrX:23397908 [GRCh37]
ChrX:Xp22.11		 likely benign
NM_173495.3(PTCHD1):c.310G>A (p.Ala104Thr) single nucleotide variant not provided [RCV001774487] ChrX:23335185 [GRCh38]
ChrX:23353302 [GRCh37]
ChrX:Xp22.11		 uncertain significance
NM_173495.3(PTCHD1):c.853C>G (p.Leu285Val) single nucleotide variant not provided [RCV001769375] ChrX:23380092 [GRCh38]
ChrX:23398209 [GRCh37]
ChrX:Xp22.11		 uncertain significance
NM_173495.3(PTCHD1):c.2309C>T (p.Pro770Leu) single nucleotide variant not provided [RCV001756861] ChrX:23393827 [GRCh38]
ChrX:23411944 [GRCh37]
ChrX:Xp22.11		 uncertain significance
NM_173495.3(PTCHD1):c.956A>G (p.Asn319Ser) single nucleotide variant not provided [RCV001752732] ChrX:23380195 [GRCh38]
ChrX:23398312 [GRCh37]
ChrX:Xp22.11		 uncertain significance
NM_173495.3(PTCHD1):c.203A>G (p.Asn68Ser) single nucleotide variant Inborn genetic diseases [RCV002421251]|not provided [RCV001753915] ChrX:23335078 [GRCh38]
ChrX:23353195 [GRCh37]
ChrX:Xp22.11		 benign|likely benign
GRCh37/hg19 Xp22.33-11.21(chrX:168546-57841304) copy number loss Turner syndrome [RCV002280671] ChrX:168546..57841304 [GRCh37]
ChrX:Xp22.33-11.21		 pathogenic
NM_173495.3(PTCHD1):c.217C>A (p.Leu73Ile) single nucleotide variant not provided [RCV001756783] ChrX:23335092 [GRCh38]
ChrX:23353209 [GRCh37]
ChrX:Xp22.11		 uncertain significance
NM_173495.3(PTCHD1):c.1080T>G (p.Val360=) single nucleotide variant not specified [RCV001820611] ChrX:23392598 [GRCh38]
ChrX:23410715 [GRCh37]
ChrX:Xp22.11		 likely benign
NM_173495.3(PTCHD1):c.16C>T (p.Leu6=) single nucleotide variant not specified [RCV001817209] ChrX:23334891 [GRCh38]
ChrX:23353008 [GRCh37]
ChrX:Xp22.11		 uncertain significance
NM_173495.3(PTCHD1):c.217C>T (p.Leu73Phe) single nucleotide variant Inborn genetic diseases [RCV002425088]|not specified [RCV001819399] ChrX:23335092 [GRCh38]
ChrX:23353209 [GRCh37]
ChrX:Xp22.11		 likely benign|uncertain significance
NM_173495.3(PTCHD1):c.448G>A (p.Val150Met) single nucleotide variant Autism, susceptibility to, X-linked 4 [RCV001809293] ChrX:23379687 [GRCh38]
ChrX:23397804 [GRCh37]
ChrX:Xp22.11		 uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss not provided [RCV001834509] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.11-21.2(chrX:23105194-31458625) copy number gain not specified [RCV002052790] ChrX:23105194..31458625 [GRCh37]
ChrX:Xp22.11-21.2		 uncertain significance
NM_173495.3(PTCHD1):c.583G>A (p.Val195Ile) single nucleotide variant not specified [RCV001844772] ChrX:23379822 [GRCh38]
ChrX:23397939 [GRCh37]
ChrX:Xp22.11		 uncertain significance
NM_173495.3(PTCHD1):c.1292T>C (p.Ile431Thr) single nucleotide variant Developmental disorder [RCV001843712] ChrX:23392810 [GRCh38]
ChrX:23410927 [GRCh37]
ChrX:Xp22.11		 uncertain significance
GRCh37/hg19 Xp22.11(chrX:23198764-23542640) copy number loss not specified [RCV002052791] ChrX:23198764..23542640 [GRCh37]
ChrX:Xp22.11		 pathogenic
NM_173495.3(PTCHD1):c.1469A>G (p.Tyr490Cys) single nucleotide variant not provided [RCV002052381] ChrX:23392987 [GRCh38]
ChrX:23411104 [GRCh37]
ChrX:Xp22.11		 uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3 copy number gain not provided [RCV001829212] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
NM_173495.3(PTCHD1):c.71A>C (p.His24Pro) single nucleotide variant not provided [RCV002225995] ChrX:23334946 [GRCh38]
ChrX:23353063 [GRCh37]
ChrX:Xp22.11		 uncertain significance
NM_173495.3(PTCHD1):c.2519C>G (p.Ala840Gly) single nucleotide variant not provided [RCV002214514] ChrX:23394037 [GRCh38]
ChrX:23412154 [GRCh37]
ChrX:Xp22.11		 uncertain significance
NM_173495.3(PTCHD1):c.2591A>T (p.Asn864Ile) single nucleotide variant not provided [RCV002260851] ChrX:23394109 [GRCh38]
ChrX:23412226 [GRCh37]
ChrX:Xp22.11		 uncertain significance
GRCh37/hg19 Xp22.2-q28(chrX:11522765-155233731)x1 copy number loss See cases [RCV002286357] ChrX:11522765..155233731 [GRCh37]
ChrX:Xp22.2-q28		 pathogenic
NM_173495.3(PTCHD1):c.543G>C (p.Lys181Asn) single nucleotide variant not provided [RCV003234480] ChrX:23379782 [GRCh38]
ChrX:23397899 [GRCh37]
ChrX:Xp22.11		 uncertain significance
NM_173495.3(PTCHD1):c.2266T>C (p.Cys756Arg) single nucleotide variant not provided [RCV003234519] ChrX:23393784 [GRCh38]
ChrX:23411901 [GRCh37]
ChrX:Xp22.11		 uncertain significance
NM_173495.3(PTCHD1):c.1557T>G (p.Tyr519Ter) single nucleotide variant Autism, susceptibility to, X-linked 4 [RCV002286475] ChrX:23393075 [GRCh38]
ChrX:23411192 [GRCh37]
ChrX:Xp22.11		 likely pathogenic|uncertain significance
NM_173495.3(PTCHD1):c.810T>C (p.Arg270=) single nucleotide variant Inborn genetic diseases [RCV002419527] ChrX:23380049 [GRCh38]
ChrX:23398166 [GRCh37]
ChrX:Xp22.11		 likely benign
GRCh37/hg19 Xp22.11(chrX:23352993-23412302)x0 copy number loss not provided [RCV002263580] ChrX:23352993..23412302 [GRCh37]
ChrX:Xp22.11		 pathogenic
NM_173495.3(PTCHD1):c.458T>C (p.Ile153Thr) single nucleotide variant Autism, susceptibility to, X-linked 4 [RCV003148382]|not provided [RCV003434706] ChrX:23379697 [GRCh38]
ChrX:23397814 [GRCh37]
ChrX:Xp22.11		 uncertain significance
NM_173495.3(PTCHD1):c.1765G>A (p.Glu589Lys) single nucleotide variant not provided [RCV003156607] ChrX:23393283 [GRCh38]
ChrX:23411400 [GRCh37]
ChrX:Xp22.11		 uncertain significance
NM_173495.3(PTCHD1):c.117C>T (p.Leu39=) single nucleotide variant Inborn genetic diseases [RCV002342315] ChrX:23334992 [GRCh38]
ChrX:23353109 [GRCh37]
ChrX:Xp22.11		 likely benign
NM_173495.3(PTCHD1):c.1951G>A (p.Ala651Thr) single nucleotide variant not provided [RCV002464920] ChrX:23393469 [GRCh38]
ChrX:23411586 [GRCh37]
ChrX:Xp22.11		 uncertain significance
NM_173495.3(PTCHD1):c.1832A>G (p.Asp611Gly) single nucleotide variant Inborn genetic diseases [RCV002412664] ChrX:23393350 [GRCh38]
ChrX:23411467 [GRCh37]
ChrX:Xp22.11		 uncertain significance
NM_173495.3(PTCHD1):c.1136C>G (p.Thr379Ser) single nucleotide variant not provided [RCV002473982] ChrX:23392654 [GRCh38]
ChrX:23410771 [GRCh37]
ChrX:Xp22.11		 uncertain significance
NM_173495.3(PTCHD1):c.751C>T (p.Pro251Ser) single nucleotide variant Inborn genetic diseases [RCV002393820]|PTCHD1-related condition [RCV003943379] ChrX:23379990 [GRCh38]
ChrX:23398107 [GRCh37]
ChrX:Xp22.11		 uncertain significance
NM_173495.3(PTCHD1):c.1740G>A (p.Lys580=) single nucleotide variant Inborn genetic diseases [RCV002401399] ChrX:23393258 [GRCh38]
ChrX:23411375 [GRCh37]
ChrX:Xp22.11		 likely benign
NM_173495.3(PTCHD1):c.27C>T (p.Gly9=) single nucleotide variant Inborn genetic diseases [RCV002441549] ChrX:23334902 [GRCh38]
ChrX:23353019 [GRCh37]
ChrX:Xp22.11		 likely benign
NM_173495.3(PTCHD1):c.78C>T (p.Val26=) single nucleotide variant Inborn genetic diseases [RCV002416634] ChrX:23334953 [GRCh38]
ChrX:23353070 [GRCh37]
ChrX:Xp22.11		 likely benign
NM_173495.3(PTCHD1):c.1308G>A (p.Gln436=) single nucleotide variant Inborn genetic diseases [RCV002381010] ChrX:23392826 [GRCh38]
ChrX:23410943 [GRCh37]
ChrX:Xp22.11		 likely benign
NM_173495.3(PTCHD1):c.2436T>C (p.Leu812=) single nucleotide variant Inborn genetic diseases [RCV002459945] ChrX:23393954 [GRCh38]
ChrX:23412071 [GRCh37]
ChrX:Xp22.11		 likely benign
NM_173495.3(PTCHD1):c.1987G>A (p.Asp663Asn) single nucleotide variant Inborn genetic diseases [RCV002423760] ChrX:23393505 [GRCh38]
ChrX:23411622 [GRCh37]
ChrX:Xp22.11		 uncertain significance
NM_173495.3(PTCHD1):c.1364C>T (p.Ala455Val) single nucleotide variant Inborn genetic diseases [RCV002383557] ChrX:23392882 [GRCh38]
ChrX:23410999 [GRCh37]
ChrX:Xp22.11		 uncertain significance
NM_173495.3(PTCHD1):c.1425G>A (p.Ala475=) single nucleotide variant Inborn genetic diseases [RCV002391920] ChrX:23392943 [GRCh38]
ChrX:23411060 [GRCh37]
ChrX:Xp22.11		 likely benign
NM_173495.3(PTCHD1):c.604C>G (p.Arg202Gly) single nucleotide variant Inborn genetic diseases [RCV002358252] ChrX:23379843 [GRCh38]
ChrX:23397960 [GRCh37]
ChrX:Xp22.11		 uncertain significance
NM_173495.3(PTCHD1):c.1929G>A (p.Val643=) single nucleotide variant Inborn genetic diseases [RCV002410852] ChrX:23393447 [GRCh38]
ChrX:23411564 [GRCh37]
ChrX:Xp22.11		 likely benign
NM_173495.3(PTCHD1):c.963del (p.Gly322fs) deletion Inborn genetic diseases [RCV002376487] ChrX:23380202 [GRCh38]
ChrX:23398319 [GRCh37]
ChrX:Xp22.11		 likely pathogenic
NM_173495.3(PTCHD1):c.580G>A (p.Gly194Ser) single nucleotide variant Inborn genetic diseases [RCV002353103] ChrX:23379819 [GRCh38]
ChrX:23397936 [GRCh37]
ChrX:Xp22.11		 uncertain significance
NM_173495.3(PTCHD1):c.2489T>A (p.Ile830Lys) single nucleotide variant not provided [RCV002461866] ChrX:23394007 [GRCh38]
ChrX:23412124 [GRCh37]
ChrX:Xp22.11		 uncertain significance
NM_173495.3(PTCHD1):c.799G>A (p.Val267Ile) single nucleotide variant Inborn genetic diseases [RCV002687666] ChrX:23380038 [GRCh38]
ChrX:23398155 [GRCh37]
ChrX:Xp22.11		 likely benign
NM_173495.3(PTCHD1):c.2038A>T (p.Ile680Phe) single nucleotide variant Inborn genetic diseases [RCV002798102] ChrX:23393556 [GRCh38]
ChrX:23411673 [GRCh37]
ChrX:Xp22.11		 uncertain significance
NM_173495.3(PTCHD1):c.1432T>C (p.Tyr478His) single nucleotide variant Inborn genetic diseases [RCV002868620] ChrX:23392950 [GRCh38]
ChrX:23411067 [GRCh37]
ChrX:Xp22.11		 uncertain significance
NM_173495.3(PTCHD1):c.253T>A (p.Ser85Thr) single nucleotide variant not provided [RCV003037057] ChrX:23335128 [GRCh38]
ChrX:23353245 [GRCh37]
ChrX:Xp22.11		 uncertain significance
NM_173495.3(PTCHD1):c.1315A>G (p.Ile439Val) single nucleotide variant Inborn genetic diseases [RCV002924099] ChrX:23392833 [GRCh38]
ChrX:23410950 [GRCh37]
ChrX:Xp22.11		 uncertain significance
NM_173495.3(PTCHD1):c.1787G>A (p.Arg596Gln) single nucleotide variant Inborn genetic diseases [RCV002873084] ChrX:23393305 [GRCh38]
ChrX:23411422 [GRCh37]
ChrX:Xp22.11		 uncertain significance
NM_173495.3(PTCHD1):c.1417G>A (p.Glu473Lys) single nucleotide variant Inborn genetic diseases [RCV002641437] ChrX:23392935 [GRCh38]
ChrX:23411052 [GRCh37]
ChrX:Xp22.11		 likely benign
NM_173495.3(PTCHD1):c.79TTC[1] (p.Phe28del) microsatellite Inborn genetic diseases [RCV002748352] ChrX:23334952..23334954 [GRCh38]
ChrX:23353069..23353071 [GRCh37]
ChrX:Xp22.11		 uncertain significance
NM_173495.3(PTCHD1):c.1706C>G (p.Thr569Ser) single nucleotide variant Inborn genetic diseases [RCV002722730] ChrX:23393224 [GRCh38]
ChrX:23411341 [GRCh37]
ChrX:Xp22.11		 uncertain significance
NM_173495.3(PTCHD1):c.226G>T (p.Val76Phe) single nucleotide variant Inborn genetic diseases [RCV003256876] ChrX:23335101 [GRCh38]
ChrX:23353218 [GRCh37]
ChrX:Xp22.11		 uncertain significance
NM_173495.3(PTCHD1):c.358G>A (p.Ala120Thr) single nucleotide variant Inborn genetic diseases [RCV003200504] ChrX:23379597 [GRCh38]
ChrX:23397714 [GRCh37]
ChrX:Xp22.11		 uncertain significance
NM_173495.3(PTCHD1):c.2173G>A (p.Val725Ile) single nucleotide variant Inborn genetic diseases [RCV003185830] ChrX:23393691 [GRCh38]
ChrX:23411808 [GRCh37]
ChrX:Xp22.11		 uncertain significance
NM_173495.3(PTCHD1):c.2582dup (p.Asn861fs) duplication not provided [RCV003224049] ChrX:23394095..23394096 [GRCh38]
ChrX:23412212..23412213 [GRCh37]
ChrX:Xp22.11		 likely pathogenic
NM_173495.3(PTCHD1):c.1496A>G (p.Tyr499Cys) single nucleotide variant not provided [RCV003223332] ChrX:23393014 [GRCh38]
ChrX:23411131 [GRCh37]
ChrX:Xp22.11		 uncertain significance
NM_173495.3(PTCHD1):c.1434C>A (p.Tyr478Ter) single nucleotide variant Autism, susceptibility to, X-linked 4 [RCV003227586] ChrX:23392952 [GRCh38]
ChrX:23411069 [GRCh37]
ChrX:Xp22.11		 likely pathogenic
NM_173495.3(PTCHD1):c.1786C>T (p.Arg596Trp) single nucleotide variant Autism, susceptibility to, X-linked 4 [RCV003223500] ChrX:23393304 [GRCh38]
ChrX:23411421 [GRCh37]
ChrX:Xp22.11		 uncertain significance
NM_173495.3(PTCHD1):c.1987G>C (p.Asp663His) single nucleotide variant Inborn genetic diseases [RCV003219396]|PTCHD1-related condition [RCV003420608] ChrX:23393505 [GRCh38]
ChrX:23411622 [GRCh37]
ChrX:Xp22.11		 uncertain significance
NM_173495.3(PTCHD1):c.316A>T (p.Met106Leu) single nucleotide variant not provided [RCV003323068] ChrX:23335191 [GRCh38]
ChrX:23353308 [GRCh37]
ChrX:Xp22.11		 uncertain significance
NM_173495.3(PTCHD1):c.170C>A (p.Ala57Glu) single nucleotide variant not provided [RCV003319902] ChrX:23335045 [GRCh38]
ChrX:23353162 [GRCh37]
ChrX:Xp22.11		 uncertain significance
NM_173495.3(PTCHD1):c.1142T>C (p.Met381Thr) single nucleotide variant not provided [RCV003319688] ChrX:23392660 [GRCh38]
ChrX:23410777 [GRCh37]
ChrX:Xp22.11		 uncertain significance
NM_173495.3(PTCHD1):c.179A>G (p.His60Arg) single nucleotide variant not provided [RCV003325723] ChrX:23335054 [GRCh38]
ChrX:23353171 [GRCh37]
ChrX:Xp22.11		 uncertain significance
NM_173495.3(PTCHD1):c.475G>A (p.Glu159Lys) single nucleotide variant PTCHD1-related neurodevelopmental disorder [RCV003329188] ChrX:23379714 [GRCh38]
ChrX:23397831 [GRCh37]
ChrX:Xp22.11		 uncertain significance
GRCh37/hg19 Xp22.11(chrX:23209046-23383351) copy number loss Autism, susceptibility to, X-linked 4 [RCV003328092] ChrX:23209046..23383351 [GRCh37]
ChrX:Xp22.11		 pathogenic
NM_173495.3(PTCHD1):c.863C>G (p.Ser288Cys) single nucleotide variant not provided [RCV003325698] ChrX:23380102 [GRCh38]
ChrX:23398219 [GRCh37]
ChrX:Xp22.11		 uncertain significance
NM_173495.3(PTCHD1):c.2217A>G (p.Ile739Met) single nucleotide variant not provided [RCV003329743] ChrX:23393735 [GRCh38]
ChrX:23411852 [GRCh37]
ChrX:Xp22.11		 uncertain significance
NM_173495.3(PTCHD1):c.143T>C (p.Val48Ala) single nucleotide variant Inborn genetic diseases [RCV003379020] ChrX:23335018 [GRCh38]
ChrX:23353135 [GRCh37]
ChrX:Xp22.11		 uncertain significance
NM_173495.3(PTCHD1):c.1592T>C (p.Ile531Thr) single nucleotide variant Inborn genetic diseases [RCV003376317] ChrX:23393110 [GRCh38]
ChrX:23411227 [GRCh37]
ChrX:Xp22.11		 uncertain significance
NM_173495.3(PTCHD1):c.230A>G (p.Asn77Ser) single nucleotide variant Inborn genetic diseases [RCV003373639] ChrX:23335105 [GRCh38]
ChrX:23353222 [GRCh37]
ChrX:Xp22.11		 uncertain significance
NM_173495.3(PTCHD1):c.1256C>G (p.Ser419Trp) single nucleotide variant Autism, susceptibility to, X-linked 4 [RCV003333384] ChrX:23392774 [GRCh38]
ChrX:23410891 [GRCh37]
ChrX:Xp22.11		 uncertain significance
GRCh37/hg19 Xp22.33-21.2(chrX:168547-30774453)x2 copy number gain not provided [RCV003483939] ChrX:168547..30774453 [GRCh37]
ChrX:Xp22.33-21.2		 pathogenic
GRCh37/hg19 Xp22.11(chrX:23080577-23874609)x3 copy number gain not provided [RCV003485280] ChrX:23080577..23874609 [GRCh37]
ChrX:Xp22.11		 uncertain significance
GRCh37/hg19 Xp22.33-11.22(chrX:2696762-53113314)x1 copy number loss not provided [RCV003483407] ChrX:2696762..53113314 [GRCh37]
ChrX:Xp22.33-11.22		 pathogenic
GRCh37/hg19 Xp22.11(chrX:23164537-23400286)x1 copy number loss not provided [RCV003483417] ChrX:23164537..23400286 [GRCh37]
ChrX:Xp22.11		 pathogenic
NM_173495.3(PTCHD1):c.2422G>A (p.Gly808Ser) single nucleotide variant not provided [RCV003443857] ChrX:23393940 [GRCh38]
ChrX:23412057 [GRCh37]
ChrX:Xp22.11		 uncertain significance
NM_173495.3(PTCHD1):c.801A>C (p.Val267=) single nucleotide variant not provided [RCV003430447] ChrX:23380040 [GRCh38]
ChrX:23398157 [GRCh37]
ChrX:Xp22.11		 likely benign
NM_173495.3(PTCHD1):c.2351_2352insCAT (p.Thr784_Lys785insIle) insertion Neurodevelopmental disorder [RCV003389227] ChrX:23393869..23393870 [GRCh38]
ChrX:23411986..23411987 [GRCh37]
ChrX:Xp22.11		 uncertain significance
NM_173495.3(PTCHD1):c.1491C>A (p.Asn497Lys) single nucleotide variant PTCHD1-related condition [RCV003408774] ChrX:23393009 [GRCh38]
ChrX:23411126 [GRCh37]
ChrX:Xp22.11		 uncertain significance
NM_173495.3(PTCHD1):c.1910A>G (p.Asn637Ser) single nucleotide variant PTCHD1-related condition [RCV003404501] ChrX:23393428 [GRCh38]
ChrX:23411545 [GRCh37]
ChrX:Xp22.11		 uncertain significance
NM_173495.3(PTCHD1):c.1563G>C (p.Gln521His) single nucleotide variant PTCHD1-related condition [RCV003414353] ChrX:23393081 [GRCh38]
ChrX:23411198 [GRCh37]
ChrX:Xp22.11		 uncertain significance
NM_173495.3(PTCHD1):c.105C>G (p.Ile35Met) single nucleotide variant not provided [RCV003430446] ChrX:23334980 [GRCh38]
ChrX:23353097 [GRCh37]
ChrX:Xp22.11		 uncertain significance
NM_173495.3(PTCHD1):c.855G>A (p.Leu285=) single nucleotide variant not provided [RCV003430448] ChrX:23380094 [GRCh38]
ChrX:23398211 [GRCh37]
ChrX:Xp22.11		 likely benign
NM_173495.3(PTCHD1):c.145GAG[1] (p.Glu50del) microsatellite Autism, susceptibility to, X-linked 4 [RCV003447719] ChrX:23335020..23335022 [GRCh38]
ChrX:23353137..23353139 [GRCh37]
ChrX:Xp22.11		 uncertain significance
NM_173495.3(PTCHD1):c.2186T>A (p.Leu729His) single nucleotide variant Autism, susceptibility to, X-linked 4 [RCV003488825] ChrX:23393704 [GRCh38]
ChrX:23411821 [GRCh37]
ChrX:Xp22.11		 uncertain significance
NM_173495.3(PTCHD1):c.1636C>G (p.Gln546Glu) single nucleotide variant not provided [RCV003488313] ChrX:23393154 [GRCh38]
ChrX:23411271 [GRCh37]
ChrX:Xp22.11		 uncertain significance
NM_173495.3(PTCHD1):c.2462G>A (p.Cys821Tyr) single nucleotide variant not provided [RCV003488314] ChrX:23393980 [GRCh38]
ChrX:23412097 [GRCh37]
ChrX:Xp22.11		 uncertain significance
GRCh37/hg19 Xp22.33-11.21(chrX:168546-55653170) copy number loss not specified [RCV003986200] ChrX:168546..55653170 [GRCh37]
ChrX:Xp22.33-11.21		 pathogenic
GRCh37/hg19 Xp22.33-11.1(chrX:168546-58364114) copy number loss not specified [RCV003986240] ChrX:168546..58364114 [GRCh37]
ChrX:Xp22.33-11.1		 pathogenic
GRCh37/hg19 Xp22.11(chrX:23280708-23387267) copy number loss not specified [RCV003986277] ChrX:23280708..23387267 [GRCh37]
ChrX:Xp22.11		 pathogenic
NM_173495.3(PTCHD1):c.582C>T (p.Gly194=) single nucleotide variant PTCHD1-related condition [RCV003899219] ChrX:23379821 [GRCh38]
ChrX:23397938 [GRCh37]
ChrX:Xp22.11		 likely benign
NM_173495.3(PTCHD1):c.708T>C (p.Thr236=) single nucleotide variant not provided [RCV003884281] ChrX:23379947 [GRCh38]
ChrX:23398064 [GRCh37]
ChrX:Xp22.11		 likely benign
NM_173495.3(PTCHD1):c.456C>T (p.Asp152=) single nucleotide variant not provided [RCV003885171] ChrX:23379695 [GRCh38]
ChrX:23397812 [GRCh37]
ChrX:Xp22.11		 uncertain significance
NM_173495.3(PTCHD1):c.1423G>T (p.Ala475Ser) single nucleotide variant PTCHD1-related condition [RCV003901496] ChrX:23392941 [GRCh38]
ChrX:23411058 [GRCh37]
ChrX:Xp22.11		 uncertain significance
NM_173495.3(PTCHD1):c.1726C>G (p.Leu576Val) single nucleotide variant PTCHD1-related condition [RCV003979218] ChrX:23393244 [GRCh38]
ChrX:23411361 [GRCh37]
ChrX:Xp22.11		 uncertain significance
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.

Markers in Region
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


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
  XM_054326481 (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
  CP068255 (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
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX23,334,849 - 23,404,374 (+)Ensembl
RefSeq Acc Id: ENST00000456522   ⟹   ENSP00000406663
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 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
T2T-CHM13v2.0X22,918,416 - 22,987,936 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011545449   ⟹   XP_011543751
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X23,334,396 - 23,404,374 (+)NCBI
Sequence:
RefSeq Acc Id: XM_054326481   ⟹   XP_054182456
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0X22,917,921 - 22,987,936 (+)NCBI
Reference Protein Sequences
RefSeq Acc Id: NP_775766   ⟸   NM_173495
- UniProtKB: Q0IJ60 (UniProtKB/Swiss-Prot),   B4DQH0 (UniProtKB/Swiss-Prot),   Q6P6B8 (UniProtKB/Swiss-Prot),   Q96NR3 (UniProtKB/Swiss-Prot),   X5DNX9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011543751   ⟸   XM_011545449
- Peptide Label: isoform X1
- UniProtKB: Q0IJ60 (UniProtKB/Swiss-Prot),   B4DQH0 (UniProtKB/Swiss-Prot),   Q6P6B8 (UniProtKB/Swiss-Prot),   Q96NR3 (UniProtKB/Swiss-Prot),   X5DNX9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000406663   ⟸   ENST00000456522
RefSeq Acc Id: ENSP00000368666   ⟸   ENST00000379361
RefSeq Acc Id: XP_054182456   ⟸   XM_054326481
- Peptide Label: isoform X1
- UniProtKB: Q6P6B8 (UniProtKB/Swiss-Prot),   Q96NR3 (UniProtKB/Swiss-Prot),   Q0IJ60 (UniProtKB/Swiss-Prot),   B4DQH0 (UniProtKB/Swiss-Prot),   X5DNX9 (UniProtKB/TrEMBL)
Protein Domains
SSD

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q96NR3-F1-model_v2 AlphaFold Q96NR3 1-888 view protein structure

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

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 Transcript ENST00000379361 ENTREZGENE
  ENST00000379361.5 UniProtKB/Swiss-Prot
  ENST00000456522.1 UniProtKB/TrEMBL
Gene3D-CATH Multidrug efflux transporter AcrB transmembrane domain UniProtKB/Swiss-Prot, 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
PANTHER PATCHED DOMAIN-CONTAINING PROTEIN 1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PATCHED-RELATED UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Patched UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134942420 PharmGKB
PROSITE SSD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP Multidrug efflux transporter AcrB transmembrane domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt B4DQH0 ENTREZGENE
  H7C2M0_HUMAN UniProtKB/TrEMBL
  PTHD1_HUMAN UniProtKB/Swiss-Prot
  Q0IJ60 ENTREZGENE
  Q6P6B8 ENTREZGENE
  Q96NR3 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