ZDHHC9 (zinc finger DHHC-type palmitoyltransferase 9) - Rat Genome Database

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Gene: ZDHHC9 (zinc finger DHHC-type palmitoyltransferase 9) Homo sapiens
Analyze
Symbol: ZDHHC9
Name: zinc finger DHHC-type palmitoyltransferase 9
RGD ID: 1348132
HGNC Page HGNC:18475
Description: Enables Ras palmitoyltransferase activity. Involved in positive regulation by host of viral process and positive regulation of cGAS/STING signaling pathway. Located in Golgi membrane; cytosol; and endoplasmic reticulum. Part of palmitoyltransferase complex. Implicated in syndromic X-linked intellectual disability Raymond type.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: antigen MMSA-1; Asp-His-His-Cys domain containing protein 9; CGI-89; CGI89; CXorf11; DHHC9; MMSA-1; MMSA1; MRXSR; MRXSZ; palmitoyltransferase ZDHHC9; ZDHHC10; zinc finger DHHC-type containing 9; zinc finger protein 379; zinc finger protein 380; zinc finger, DHHC domain containing 10; zinc finger, dhhc domain containing 9; zinc finger, DHHC-type containing 9; ZNF379; ZNF380
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38X129,803,288 - 129,843,886 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 EnsemblX129,803,288 - 129,843,909 (-)EnsemblGRCh38hg38GRCh38
GRCh37X128,937,264 - 128,977,862 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X128,766,593 - 128,805,554 (-)NCBINCBI36Build 36hg18NCBI36
Build 34X128,664,449 - 128,703,408NCBI
CeleraX129,323,767 - 129,364,414 (-)NCBICelera
Cytogenetic MapXq26.1NCBI
HuRefX118,338,764 - 118,378,757 (-)NCBIHuRef
CHM1_1X128,848,613 - 128,889,262 (-)NCBICHM1_1
T2T-CHM13v2.0X128,122,064 - 128,162,666 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View
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:10810093   PMID:12477932   PMID:12975309   PMID:14702039   PMID:15203218   PMID:15489334   PMID:15772651   PMID:15790807   PMID:16000296   PMID:16193335   PMID:16344560   PMID:16647879  
PMID:17436253   PMID:17519897   PMID:18029348   PMID:18827284   PMID:20848651   PMID:21388813   PMID:21873635   PMID:22230506   PMID:23034182   PMID:24248599   PMID:24357419   PMID:24811172  
PMID:25910212   PMID:26186194   PMID:26350204   PMID:26358559   PMID:26493349   PMID:26493479   PMID:26633542   PMID:27481942   PMID:27747153   PMID:28168288   PMID:28514442   PMID:28687527  
PMID:29681091   PMID:33845483   PMID:33961781   PMID:34599882   PMID:34620861   PMID:36610398   PMID:37002491   PMID:37802025   PMID:38182928  


Genomics

Comparative Map Data
ZDHHC9
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38X129,803,288 - 129,843,886 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 EnsemblX129,803,288 - 129,843,909 (-)EnsemblGRCh38hg38GRCh38
GRCh37X128,937,264 - 128,977,862 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X128,766,593 - 128,805,554 (-)NCBINCBI36Build 36hg18NCBI36
Build 34X128,664,449 - 128,703,408NCBI
CeleraX129,323,767 - 129,364,414 (-)NCBICelera
Cytogenetic MapXq26.1NCBI
HuRefX118,338,764 - 118,378,757 (-)NCBIHuRef
CHM1_1X128,848,613 - 128,889,262 (-)NCBICHM1_1
T2T-CHM13v2.0X128,122,064 - 128,162,666 (-)NCBIT2T-CHM13v2.0
Zdhhc9
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X47,260,844 - 47,297,792 (-)NCBIGRCm39GRCm39mm39
GRCm39 EnsemblX47,260,846 - 47,297,755 (-)EnsemblGRCm39 Ensembl
GRCm38X48,171,967 - 48,208,702 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX48,171,969 - 48,208,878 (-)EnsemblGRCm38mm10GRCm38
MGSCv37X45,525,148 - 45,561,879 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36X44,416,598 - 44,453,310 (-)NCBIMGSCv36mm8
CeleraX35,674,299 - 35,710,725 (-)NCBICelera
Cytogenetic MapXA4NCBI
cM MapX25.55NCBI
Zdhhc9
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8X132,230,243 - 132,266,139 (-)NCBIGRCr8
mRatBN7.2X127,352,340 - 127,388,245 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 EnsemblX127,352,345 - 127,388,245 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_UtxX129,478,111 - 129,514,060 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0X133,048,918 - 133,084,810 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0X130,575,263 - 130,611,214 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0X135,005,171 - 135,041,207 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 EnsemblX135,005,123 - 135,041,027 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0X135,081,376 - 135,116,885 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X134,537,438 - 134,573,364 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
CeleraX126,302,789 - 126,338,662 (-)NCBICelera
Cytogenetic MapXq36NCBI
Zdhhc9
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554735,174,563 - 5,208,767 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554735,174,575 - 5,208,767 (+)NCBIChiLan1.0ChiLan1.0
ZDHHC9
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2X129,228,185 - 129,266,847 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1X129,230,131 - 129,270,455 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0X118,932,986 - 118,973,238 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1X129,230,556 - 129,270,665 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX129,230,571 - 129,270,665 (-)Ensemblpanpan1.1panPan2
ZDHHC9
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X101,011,072 - 101,096,394 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX100,996,607 - 101,043,228 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaX87,184,996 - 87,270,387 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0X102,862,545 - 102,948,146 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 EnsemblX102,864,567 - 102,896,674 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1X100,280,828 - 100,366,232 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0X102,127,017 - 102,212,421 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0X101,904,811 - 101,990,352 (-)NCBIUU_Cfam_GSD_1.0
Zdhhc9
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X99,244,189 - 99,275,735 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049364791,711,713 - 1,741,167 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049364791,711,756 - 1,743,306 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ZDHHC9
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX106,401,245 - 106,436,014 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X106,397,139 - 106,436,103 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X122,170,189 - 122,205,037 (-)NCBISscrofa10.2Sscrofa10.2susScr3
ZDHHC9
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X105,082,531 - 105,120,802 (-)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366606542,495,912 - 42,536,963 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Zdhhc9
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247979,023,833 - 9,060,855 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247979,027,316 - 9,060,321 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in ZDHHC9
217 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_016032.4(ZDHHC9):c.876C>T (p.Pro292=) single nucleotide variant Syndromic X-linked intellectual disability Raymond type [RCV000545362] ChrX:129811411 [GRCh38]
ChrX:128945387 [GRCh37]
ChrX:Xq26.1		 likely benign
NM_016032.4(ZDHHC9):c.519G>A (p.Gly173=) single nucleotide variant Syndromic X-linked intellectual disability Raymond type [RCV000556555] ChrX:129814764 [GRCh38]
ChrX:128948740 [GRCh37]
ChrX:Xq26.1		 likely benign
NM_016032.4(ZDHHC9):c.1056C>T (p.Pro352=) single nucleotide variant Syndromic X-linked intellectual disability Raymond type [RCV000543804] ChrX:129806409 [GRCh38]
ChrX:128940385 [GRCh37]
ChrX:Xq26.1		 likely benign
NM_016032.4(ZDHHC9):c.489G>A (p.Glu163=) single nucleotide variant Syndromic X-linked intellectual disability Raymond type [RCV000544164] ChrX:129814794 [GRCh38]
ChrX:128948770 [GRCh37]
ChrX:Xq26.1		 likely benign
NM_016032.4(ZDHHC9):c.329-2dup duplication Syndromic X-linked intellectual disability Raymond type [RCV001996957]|ZDHHC9-related condition [RCV003407999] ChrX:129823838..129823839 [GRCh38]
ChrX:128957814..128957815 [GRCh37]
ChrX:Xq26.1		 uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x3 copy number gain See cases [RCV000133911] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic|likely pathogenic|conflicting data from submitters
NM_016032.4(ZDHHC9):c.172_175del (p.Arg58fs) deletion Syndromic X-linked intellectual disability Raymond type [RCV000011455] ChrX:129829134..129829137 [GRCh38]
ChrX:128963110..128963113 [GRCh37]
ChrX:Xq26.1		 pathogenic
NM_016032.4(ZDHHC9):c.167+5G>C single nucleotide variant Syndromic X-linked intellectual disability Raymond type [RCV000011456] ChrX:129841774 [GRCh38]
ChrX:128975750 [GRCh37]
ChrX:Xq26.1		 pathogenic
NM_016032.4(ZDHHC9):c.1064_1065insCCCACAGCC (p.Pro355_Gln357dup) insertion Syndromic X-linked intellectual disability Raymond type [RCV000555375] ChrX:129806400..129806401 [GRCh38]
ChrX:128940376..128940377 [GRCh37]
ChrX:Xq26.1		 likely benign|uncertain significance
NM_016032.4(ZDHHC9):c.805C>G (p.Arg269Gly) single nucleotide variant not provided [RCV000519244]|not specified [RCV002248754] ChrX:129811482 [GRCh38]
ChrX:128945458 [GRCh37]
ChrX:Xq26.1		 uncertain significance
NM_016032.4(ZDHHC9):c.442C>T (p.Arg148Trp) single nucleotide variant Intellectual disability [RCV001260822]|Syndromic X-linked intellectual disability Raymond type [RCV000011457]|not provided [RCV001091717] ChrX:129823724 [GRCh38]
ChrX:128957700 [GRCh37]
ChrX:Xq26.1		 pathogenic|likely pathogenic
NM_016032.4(ZDHHC9):c.448C>T (p.Pro150Ser) single nucleotide variant Syndromic X-linked intellectual disability Raymond type [RCV000011458] ChrX:129823718 [GRCh38]
ChrX:128957694 [GRCh37]
ChrX:Xq26.1		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:3092486-155699618)x2 copy number gain See cases [RCV000050889] ChrX:3092486..155699618 [GRCh38]
ChrX:3010527..154929279 [GRCh37]
ChrX:3020527..154582473 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x3 copy number gain See cases [RCV000050810] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x1 copy number loss See cases [RCV000050811] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss Global developmental delay [RCV000050386]|See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000050697] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000050699] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xq23-28(chrX:115417992-156022206)x1 copy number loss See cases [RCV000051160] ChrX:115417992..156022206 [GRCh38]
ChrX:114652461..155251871 [GRCh37]
ChrX:114558717..154905065 [NCBI36]
ChrX:Xq23-28		 pathogenic
GRCh38/hg38 Xp11.21-q28(chrX:57372584-155996431)x1 copy number loss See cases [RCV000051665] ChrX:57372584..155996431 [GRCh38]
ChrX:57399017..155226096 [GRCh37]
ChrX:57415742..154879290 [NCBI36]
ChrX:Xp11.21-q28		 pathogenic
GRCh38/hg38 Xq23-28(chrX:116264813-155980575)x1 copy number loss See cases [RCV000051728] ChrX:116264813..155980575 [GRCh38]
ChrX:115396069..155210240 [GRCh37]
ChrX:115310097..154863434 [NCBI36]
ChrX:Xq23-28		 pathogenic
GRCh38/hg38 Xq11.1-28(chrX:63279794-155939524)x1 copy number loss See cases [RCV000051666] ChrX:63279794..155939524 [GRCh38]
ChrX:62499671..155169188 [GRCh37]
ChrX:62416396..154822382 [NCBI36]
ChrX:Xq11.1-28		 pathogenic
GRCh38/hg38 Xq25-28(chrX:126537861-155996431)x1 copy number loss See cases [RCV000051729] ChrX:126537861..155996431 [GRCh38]
ChrX:125671844..155226096 [GRCh37]
ChrX:125499525..154879290 [NCBI36]
ChrX:Xq25-28		 pathogenic
GRCh38/hg38 Xq22.1-28(chrX:100524562-155669954)x1 copy number loss See cases [RCV000051713] ChrX:100524562..155669954 [GRCh38]
ChrX:99779559..154785891 [GRCh37]
ChrX:99666215..154552809 [NCBI36]
ChrX:Xq22.1-28		 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 Xq13.2-27.1(chrX:73008114-140201321)x4 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052418]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052418]|See cases [RCV000052418] ChrX:73008114..140201321 [GRCh38]
ChrX:72227953..139283477 [GRCh37]
ChrX:72144678..139111143 [NCBI36]
ChrX:Xq13.2-27.1		 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 Xq25-28(chrX:123731372-155687381)x3 copy number gain See cases [RCV000052445] ChrX:123731372..155687381 [GRCh38]
ChrX:122865222..154917042 [GRCh37]
ChrX:122692903..154570236 [NCBI36]
ChrX:Xq25-28		 pathogenic
GRCh38/hg38 Xq25-26.2(chrX:128395951-132383344)x2 copy number gain See cases [RCV000052446] ChrX:128395951..132383344 [GRCh38]
ChrX:127529929..131517372 [GRCh37]
ChrX:127357610..131345053 [NCBI36]
ChrX:Xq25-26.2		 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-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-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
NM_016032.4(ZDHHC9):c.928C>T (p.Arg310Ter) single nucleotide variant not provided [RCV000657798] ChrX:129810955 [GRCh38]
ChrX:128944931 [GRCh37]
ChrX:Xq26.1		 uncertain significance
NM_016032.4(ZDHHC9):c.35G>A (p.Arg12Gln) single nucleotide variant not provided [RCV002288025] ChrX:129841911 [GRCh38]
ChrX:128975887 [GRCh37]
ChrX:Xq26.1		 uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022826)x4 copy number gain See cases [RCV000133654] ChrX:10679..156022826 [GRCh38]
ChrX:60679..155252491 [GRCh37]
ChrX:679..154905685 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
NM_016032.4(ZDHHC9):c.167+10G>A single nucleotide variant Syndromic X-linked intellectual disability Raymond type [RCV000646768]|ZDHHC9-related condition [RCV003967420]|not specified [RCV000177289] ChrX:129841769 [GRCh38]
ChrX:128975745 [GRCh37]
ChrX:Xq26.1		 benign
NM_016032.4(ZDHHC9):c.487+15A>G single nucleotide variant Syndromic X-linked intellectual disability Raymond type [RCV002054125]|not provided [RCV001541409]|not specified [RCV000178962] ChrX:129823664 [GRCh38]
ChrX:128957640 [GRCh37]
ChrX:Xq26.1		 benign
NM_016032.4(ZDHHC9):c.331G>T (p.Ala111Ser) single nucleotide variant Syndromic X-linked intellectual disability Raymond type [RCV001348507] ChrX:129823835 [GRCh38]
ChrX:128957811 [GRCh37]
ChrX:Xq26.1		 uncertain significance
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:26102-155996431)x1 copy number loss See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:4245..154882152 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xq21.1-28(chrX:85123740-156022206)x3 copy number gain See cases [RCV000133744] ChrX:85123740..156022206 [GRCh38]
ChrX:84378746..155251871 [GRCh37]
ChrX:84265402..154905065 [NCBI36]
ChrX:Xq21.1-28		 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 Xq21.1-28(chrX:78605009-156016560)x1 copy number loss See cases [RCV000134570] ChrX:78605009..156016560 [GRCh38]
ChrX:77860506..155246225 [GRCh37]
ChrX:77747162..154899419 [NCBI36]
ChrX:Xq21.1-28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x1 copy number loss See cases [RCV000133947] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xq11.1-28(chrX:62712230-155978888)x3 copy number gain See cases [RCV000134025] ChrX:62712230..155978888 [GRCh38]
ChrX:61931700..155208553 [GRCh37]
ChrX:61848425..154861747 [NCBI36]
ChrX:Xq11.1-28		 pathogenic
GRCh38/hg38 Xp21.1-q28(chrX:37076284-156016920)x1 copy number loss See cases [RCV000135300] ChrX:37076284..156016920 [GRCh38]
ChrX:37094357..155246585 [GRCh37]
ChrX:37004278..154899779 [NCBI36]
ChrX:Xp21.1-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156026127)x1 copy number loss See cases [RCV000135321] ChrX:20297..156026127 [GRCh38]
ChrX:70297..155255792 [GRCh37]
ChrX:10297..154908986 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xq21.31-28(chrX:92222680-156016920)x1 copy number loss See cases [RCV000135307] ChrX:92222680..156016920 [GRCh38]
ChrX:91477679..155246585 [GRCh37]
ChrX:91364335..154899779 [NCBI36]
ChrX:Xq21.31-28		 pathogenic
GRCh38/hg38 Xq23-28(chrX:114533139-156022206)x1 copy number loss See cases [RCV000134947] ChrX:114533139..156022206 [GRCh38]
ChrX:113767592..155251871 [GRCh37]
ChrX:113673848..154905065 [NCBI36]
ChrX:Xq23-28		 pathogenic
GRCh38/hg38 Xq13.2-28(chrX:74510116-156022206)x1 copy number loss See cases [RCV000134958] ChrX:74510116..156022206 [GRCh38]
ChrX:73729951..155251871 [GRCh37]
ChrX:73646676..154905065 [NCBI36]
ChrX:Xq13.2-28		 pathogenic
GRCh38/hg38 Xp21.1-q28(chrX:36237706-156022206)x1 copy number loss See cases [RCV000135552] ChrX:36237706..156022206 [GRCh38]
ChrX:36255823..155251871 [GRCh37]
ChrX:36165744..154905065 [NCBI36]
ChrX:Xp21.1-q28		 pathogenic
GRCh38/hg38 Xq21.1-28(chrX:77369933-156013167)x1 copy number loss See cases [RCV000135454] ChrX:77369933..156013167 [GRCh38]
ChrX:76634813..155242832 [GRCh37]
ChrX:76507069..154896026 [NCBI36]
ChrX:Xq21.1-28		 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 Xq21.33-28(chrX:94462929-156001635)x3 copy number gain See cases [RCV000136552] ChrX:94462929..156001635 [GRCh38]
ChrX:93717928..155231300 [GRCh37]
ChrX:93604584..154884494 [NCBI36]
ChrX:Xq21.33-28		 pathogenic
GRCh38/hg38 Xq23-28(chrX:111745722-154555423)x3 copy number gain See cases [RCV000136030] ChrX:111745722..154555423 [GRCh38]
ChrX:110988950..153783638 [GRCh37]
ChrX:110875606..153436832 [NCBI36]
ChrX:Xq23-28		 pathogenic
GRCh38/hg38 Xq25-28(chrX:128473235-156003229)x1 copy number loss See cases [RCV000136095] ChrX:128473235..156003229 [GRCh38]
ChrX:127607213..155232894 [GRCh37]
ChrX:127434894..154886088 [NCBI36]
ChrX:Xq25-28		 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 Xq21.1-28(chrX:79093152-156003229)x1 copy number loss See cases [RCV000136083] ChrX:79093152..156003229 [GRCh38]
ChrX:78348649..155232894 [GRCh37]
ChrX:78235305..154886088 [NCBI36]
ChrX:Xq21.1-28		 pathogenic
GRCh38/hg38 Xq13.3-28(chrX:75086417-156022206)x1 copy number loss See cases [RCV000137113] ChrX:75086417..156022206 [GRCh38]
ChrX:74306252..155251871 [GRCh37]
ChrX:74222977..154905065 [NCBI36]
ChrX:Xq13.3-28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2765636-155522304)x3 copy number gain See cases [RCV000136791] ChrX:2765636..155522304 [GRCh38]
ChrX:2683677..154751965 [GRCh37]
ChrX:2693677..154405159 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2782275-155611794)x2 copy number gain See cases [RCV000136841] ChrX:2782275..155611794 [GRCh38]
ChrX:2700316..154785891 [GRCh37]
ChrX:2710316..154494649 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xq22.1-28(chrX:102197284-156003242)x1 copy number loss See cases [RCV000137415] ChrX:102197284..156003242 [GRCh38]
ChrX:101452257..155232907 [GRCh37]
ChrX:101338913..154886101 [NCBI36]
ChrX:Xq22.1-28		 pathogenic
GRCh38/hg38 Xq11.1-28(chrX:62561604-156003242)x3 copy number gain See cases [RCV000137553] ChrX:62561604..156003242 [GRCh38]
ChrX:61781074..155232907 [GRCh37]
ChrX:61697799..154886101 [NCBI36]
ChrX:Xq11.1-28		 pathogenic
GRCh38/hg38 Xq13.3-28(chrX:76604011-156022206)x1 copy number loss See cases [RCV000137138] ChrX:76604011..156022206 [GRCh38]
ChrX:75824420..155251871 [GRCh37]
ChrX:75740824..154905065 [NCBI36]
ChrX:Xq13.3-28		 pathogenic
GRCh38/hg38 Xq25-28(chrX:123793526-156022206)x1 copy number loss See cases [RCV000137167] ChrX:123793526..156022206 [GRCh38]
ChrX:122927376..155251871 [GRCh37]
ChrX:122755057..154905065 [NCBI36]
ChrX:Xq25-28		 pathogenic|uncertain significance
GRCh38/hg38 Xq21.33-28(chrX:95846285-156003242)x3 copy number gain See cases [RCV000138020] ChrX:95846285..156003242 [GRCh38]
ChrX:95101284..155232907 [GRCh37]
ChrX:94987940..154886101 [NCBI36]
ChrX:Xq21.33-28		 pathogenic
GRCh38/hg38 Xq23-27.1(chrX:117260292-140201321)x3 copy number gain See cases [RCV000138145] ChrX:117260292..140201321 [GRCh38]
ChrX:116394255..139283477 [GRCh37]
ChrX:116278283..139111143 [NCBI36]
ChrX:Xq23-27.1		 pathogenic
GRCh38/hg38 Xq22.3-28(chrX:106127173-156003242)x1 copy number loss See cases [RCV000137887] ChrX:106127173..156003242 [GRCh38]
ChrX:105371166..155232907 [GRCh37]
ChrX:105257822..154886101 [NCBI36]
ChrX:Xq22.3-28		 pathogenic
GRCh38/hg38 Xq21.1-28(chrX:79911061-156003229)x1 copy number loss See cases [RCV000138787] ChrX:79911061..156003229 [GRCh38]
ChrX:79166568..155232894 [GRCh37]
ChrX:79053224..154886088 [NCBI36]
ChrX:Xq21.1-28		 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 Xq22.3-28(chrX:106465610-156003242)x1 copy number loss See cases [RCV000138541] ChrX:106465610..156003242 [GRCh38]
ChrX:105708840..155232907 [GRCh37]
ChrX:105595496..154886101 [NCBI36]
ChrX:Xq22.3-28		 pathogenic
GRCh38/hg38 Xq21.1-28(chrX:82211310-156003229)x1 copy number loss See cases [RCV000139400] ChrX:82211310..156003229 [GRCh38]
ChrX:81466759..155232894 [GRCh37]
ChrX:81353415..154886088 [NCBI36]
ChrX:Xq21.1-28		 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 Xq21.31-28(chrX:88339926-156003242)x1 copy number loss See cases [RCV000139351] ChrX:88339926..156003242 [GRCh38]
ChrX:87594927..155232907 [GRCh37]
ChrX:87481583..154886101 [NCBI36]
ChrX:Xq21.31-28		 pathogenic|likely benign
GRCh38/hg38 Xq11.1-28(chrX:62712219-156003242)x3 copy number gain See cases [RCV000139416] ChrX:62712219..156003242 [GRCh38]
ChrX:61931689..155232907 [GRCh37]
ChrX:61848414..154886101 [NCBI36]
ChrX:Xq11.1-28		 pathogenic|likely benign
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004181)x3 copy number gain See cases [RCV000139888] ChrX:251880..156004181 [GRCh38]
ChrX:168547..155233846 [GRCh37]
ChrX:108547..154887040 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2299223-155992188)x3 copy number gain See cases [RCV000141400] ChrX:2299223..155992188 [GRCh38]
ChrX:2217264..155221853 [GRCh37]
ChrX:2227264..154875047 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156016920)x3 copy number gain See cases [RCV000141401] ChrX:20297..156016920 [GRCh38]
ChrX:70297..155246585 [GRCh37]
ChrX:10297..154899779 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x4 copy number gain See cases [RCV000140786] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x1 copy number loss See cases [RCV000140787] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic|conflicting data from submitters
GRCh38/hg38 Xq21.1-28(chrX:82096719-156004066)x1 copy number loss See cases [RCV000141825] ChrX:82096719..156004066 [GRCh38]
ChrX:81352168..155233731 [GRCh37]
ChrX:81238824..154886925 [NCBI36]
ChrX:Xq21.1-28		 pathogenic
GRCh38/hg38 Xq21.31-28(chrX:89557622-156004066)x1 copy number loss See cases [RCV000142016] ChrX:89557622..156004066 [GRCh38]
ChrX:88812621..155233731 [GRCh37]
ChrX:88699277..154886925 [NCBI36]
ChrX:Xq21.31-28		 pathogenic
GRCh38/hg38 Xq24-28(chrX:119297670-156004066)x1 copy number loss See cases [RCV000141743] ChrX:119297670..156004066 [GRCh38]
ChrX:118431633..155233731 [GRCh37]
ChrX:118315661..154886925 [NCBI36]
ChrX:Xq24-28		 pathogenic
GRCh38/hg38 Xq21.1-28(chrX:78187188-156004066)x1 copy number loss See cases [RCV000142337] ChrX:78187188..156004066 [GRCh38]
ChrX:77442685..155233731 [GRCh37]
ChrX:77329341..154886925 [NCBI36]
ChrX:Xq21.1-28		 pathogenic
GRCh38/hg38 Xq24-28(chrX:118856574-156004066)x1 copy number loss See cases [RCV000142137] ChrX:118856574..156004066 [GRCh38]
ChrX:117990537..155233731 [GRCh37]
ChrX:117874565..154886925 [NCBI36]
ChrX:Xq24-28		 pathogenic
GRCh38/hg38 Xq21.2-28(chrX:86626431-156004066)x1 copy number loss See cases [RCV000142037] ChrX:86626431..156004066 [GRCh38]
ChrX:85881434..155233731 [GRCh37]
ChrX:85768090..154886925 [NCBI36]
ChrX:Xq21.2-28		 pathogenic
GRCh38/hg38 Xq22.3-28(chrX:106722296-156004066)x1 copy number loss See cases [RCV000142190] ChrX:106722296..156004066 [GRCh38]
ChrX:105965526..155233731 [GRCh37]
ChrX:105852182..154886925 [NCBI36]
ChrX:Xq22.3-28		 pathogenic
GRCh38/hg38 Xq25-26.1(chrX:129192846-130323929)x2 copy number gain See cases [RCV000143055] ChrX:129192846..130323929 [GRCh38]
ChrX:128326823..129457903 [GRCh37]
ChrX:128154504..129285584 [NCBI36]
ChrX:Xq25-26.1		 uncertain significance
GRCh38/hg38 Xq23-28(chrX:111050385-156022206)x1 copy number loss See cases [RCV000142577] ChrX:111050385..156022206 [GRCh38]
ChrX:110293613..155251871 [GRCh37]
ChrX:110180269..154905065 [NCBI36]
ChrX:Xq23-28		 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 Xq13.2-28(chrX:74684615-156004066)x1 copy number loss See cases [RCV000143424] ChrX:74684615..156004066 [GRCh38]
ChrX:73904450..155233731 [GRCh37]
ChrX:73821175..154886925 [NCBI36]
ChrX:Xq13.2-28		 pathogenic
GRCh38/hg38 Xp11.22-q28(chrX:53144751-156003242)x1 copy number loss See cases [RCV000143349] ChrX:53144751..156003242 [GRCh38]
ChrX:53321095..155232907 [GRCh37]
ChrX:53190658..154886101 [NCBI36]
ChrX:Xp11.22-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x1 copy number loss See cases [RCV000143441] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:108546..154886925 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x3 copy number gain See cases [RCV000143433] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-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 Xq13.3-28(chrX:76557425-156004066)x1 copy number loss See cases [RCV000143132] ChrX:76557425..156004066 [GRCh38]
ChrX:75777833..155233731 [GRCh37]
ChrX:75694237..154886925 [NCBI36]
ChrX:Xq13.3-28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000148141] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000148135] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2 copy number gain See cases [RCV000240106] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3 copy number gain See cases [RCV000240122] ChrX:71267..155246643 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xq11.1-28(chrX:62063537-155246643)x3 copy number gain See cases [RCV000240143] ChrX:62063537..155246643 [GRCh37]
ChrX:Xq11.1-28		 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
NM_016032.4(ZDHHC9):c.900T>C (p.Gly300=) single nucleotide variant Syndromic X-linked intellectual disability Raymond type [RCV000558046] ChrX:129810983 [GRCh38]
ChrX:128944959 [GRCh37]
ChrX:Xq26.1		 likely benign
NM_016032.4(ZDHHC9):c.893G>A (p.Arg298Gln) single nucleotide variant Syndromic X-linked intellectual disability Raymond type [RCV000209872] ChrX:129810990 [GRCh38]
ChrX:128944966 [GRCh37]
ChrX:Xq26.1		 uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3 copy number gain See cases [RCV000239843] ChrX:176426..155250222 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3 copy number gain See cases [RCV000239934] ChrX:70297..155255839 [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 Xp11.21-q28(chrX:56457791-155233731)x3 copy number gain See cases [RCV000511307] ChrX:56457791..155233731 [GRCh37]
ChrX:Xp11.21-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1 copy number loss See cases [RCV000239902] ChrX:71267..155224766 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3 copy number gain See cases [RCV000239989] ChrX:60701..155246271 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:553069-155233731)x1 copy number loss See cases [RCV000446026] ChrX:553069..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3 copy number gain See cases [RCV000240552] ChrX:176426..155236656 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2 copy number gain See cases [RCV000240464] ChrX:225816..155234036 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3 copy number gain See cases [RCV000240314] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xq11.1-28(chrX:62063537-155250222)x3 copy number gain See cases [RCV000240148] ChrX:62063537..155250222 [GRCh37]
ChrX:Xq11.1-28		 pathogenic
GRCh37/hg19 Xq25-28(chrX:121022022-155211482)x1 copy number loss See cases [RCV000240337] ChrX:121022022..155211482 [GRCh37]
ChrX:Xq25-28		 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_016032.4(ZDHHC9):c.328+1G>A single nucleotide variant not provided [RCV000598660] ChrX:129828980 [GRCh38]
ChrX:128962956 [GRCh37]
ChrX:Xq26.1		 pathogenic
Single allele duplication Syndromic X-linked intellectual disability Lubs type [RCV000768455] ChrX:15323210..153542100 [GRCh37]
ChrX:Xp22.2-q28		 pathogenic
NM_016032.4(ZDHHC9):c.679del (p.Val226_Leu227insTer) deletion Inborn genetic diseases [RCV000624868] ChrX:129812816 [GRCh38]
ChrX:128946792 [GRCh37]
ChrX:Xq26.1		 pathogenic
NM_016032.4(ZDHHC9):c.487+3G>A single nucleotide variant not specified [RCV000602971] ChrX:129823676 [GRCh38]
ChrX:128957652 [GRCh37]
ChrX:Xq26.1		 likely benign
NM_016032.4(ZDHHC9):c.975C>T (p.Ser325=) single nucleotide variant History of neurodevelopmental disorder [RCV000720979]|Syndromic X-linked intellectual disability Raymond type [RCV000534077]|not specified [RCV001821562] ChrX:129810908 [GRCh38]
ChrX:128944884 [GRCh37]
ChrX:Xq26.1		 benign|likely benign
NM_016032.4(ZDHHC9):c.777C>T (p.Asp259=) single nucleotide variant Syndromic X-linked intellectual disability Raymond type [RCV000537419] ChrX:129812718 [GRCh38]
ChrX:128946694 [GRCh37]
ChrX:Xq26.1		 likely benign|uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168546-154930047)x3 copy number gain See cases [RCV000449437] ChrX:168546..154930047 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3 copy number gain See cases [RCV000449330] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792) copy number loss See cases [RCV000449461] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xq21.33-28(chrX:94043221-155246585)x1 copy number loss See cases [RCV000449365] ChrX:94043221..155246585 [GRCh37]
ChrX:Xq21.33-28		 pathogenic
GRCh37/hg19 Xq21.33-26.1(chrX:95498487-129063677)x3 copy number gain See cases [RCV000446318] ChrX:95498487..129063677 [GRCh37]
ChrX:Xq21.33-26.1		 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 Xq13.1-28(chrX:68701338-155233731)x3 copy number gain See cases [RCV000446471] ChrX:68701338..155233731 [GRCh37]
ChrX:Xq13.1-28		 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:2703632-155233731)x1 copy number loss See cases [RCV000446712] ChrX:2703632..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246225)x3 copy number gain See cases [RCV000446270] ChrX:60701..155246225 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:318707-155224707)x1 copy number loss See cases [RCV000446667] ChrX:318707..155224707 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xq13.3-28(chrX:74787886-155233731)x1 copy number loss See cases [RCV000447490] ChrX:74787886..155233731 [GRCh37]
ChrX:Xq13.3-28		 pathogenic
GRCh37/hg19 Xp11.1-q28(chrX:58140271-155046703)x3 copy number gain See cases [RCV000446151] ChrX:58140271..155046703 [GRCh37]
ChrX:Xp11.1-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:168566-155233731)x1 copy number loss See cases [RCV000445720] ChrX:168566..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xq22.3-28(chrX:105694656-155224707)x1 copy number loss See cases [RCV000445891] ChrX:105694656..155224707 [GRCh37]
ChrX:Xq22.3-28		 pathogenic
GRCh37/hg19 Xq25-26.2(chrX:126307810-131646710)x2 copy number gain See cases [RCV000448112] ChrX:126307810..131646710 [GRCh37]
ChrX:Xq25-26.2		 pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:55532799-150239235)x1 copy number loss See cases [RCV000448870] ChrX:55532799..150239235 [GRCh37]
ChrX:Xp11.21-q28		 pathogenic
GRCh37/hg19 Xq25-28(chrX:126773628-155233731)x1 copy number loss See cases [RCV000448724] ChrX:126773628..155233731 [GRCh37]
ChrX:Xq25-28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss See cases [RCV000448393] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)x4 copy number gain See cases [RCV000448034] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xq13.2-27.1(chrX:72224362-139262228)x4 copy number gain See cases [RCV000448394] ChrX:72224362..139262228 [GRCh37]
ChrX:Xq13.2-27.1		 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 Xq25-26.2(chrX:123108906-133026079)x3 copy number gain See cases [RCV000448069] ChrX:123108906..133026079 [GRCh37]
ChrX:Xq25-26.2		 likely pathogenic
NM_016032.4(ZDHHC9):c.251T>C (p.Leu84Ser) single nucleotide variant not provided [RCV000484510] ChrX:129829058 [GRCh38]
ChrX:128963034 [GRCh37]
ChrX:Xq26.1		 likely pathogenic
GRCh37/hg19 Xq25-26.1(chrX:128311362-129281516)x3 copy number gain See cases [RCV000510392] ChrX:128311362..129281516 [GRCh37]
ChrX:Xq25-26.1		 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_016032.4(ZDHHC9):c.144A>T (p.Thr48=) single nucleotide variant Syndromic X-linked intellectual disability Raymond type [RCV001509624]|not specified [RCV000503026] ChrX:129841802 [GRCh38]
ChrX:128975778 [GRCh37]
ChrX:Xq26.1		 benign|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
NM_001008222.3(ZDHHC9):c.286C>T (p.Arg96Trp) single nucleotide variant Syndromic X-linked intellectual disability Raymond type [RCV000493569]|not provided [RCV001575552] ChrX:129829023 [GRCh38]
ChrX:128962999 [GRCh37]
ChrX:Xq26.1		 pathogenic|likely pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:55000501-155230750)x3 copy number gain See cases [RCV000511787] ChrX:55000501..155230750 [GRCh37]
ChrX:Xp11.21-q28		 pathogenic
GRCh37/hg19 Xp21.2-q28(chrX:31088082-155233731)x1 copy number loss See cases [RCV000511413] ChrX:31088082..155233731 [GRCh37]
ChrX:Xp21.2-q28		 pathogenic|uncertain significance
GRCh37/hg19 Xq23-28(chrX:112474054-155233731)x1 copy number loss See cases [RCV000511572] ChrX:112474054..155233731 [GRCh37]
ChrX:Xq23-28		 pathogenic
GRCh37/hg19 Xq24-28(chrX:116621104-155233731)x1 copy number loss See cases [RCV000511936] ChrX:116621104..155233731 [GRCh37]
ChrX:Xq24-28		 pathogenic
GRCh37/hg19 Xq21.1-28(chrX:79862302-155233731)x1 copy number loss See cases [RCV000511482] ChrX:79862302..155233731 [GRCh37]
ChrX:Xq21.1-28		 pathogenic
GRCh37/hg19 Xq21.31-28(chrX:86900388-155233731)x1 copy number loss See cases [RCV000511490] ChrX:86900388..155233731 [GRCh37]
ChrX:Xq21.31-28		 pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:57511767-155233731)x3 copy number gain See cases [RCV000510826] ChrX:57511767..155233731 [GRCh37]
ChrX:Xp11.21-q28		 pathogenic
GRCh37/hg19 Xq21.1-28(chrX:78230501-155233731)x1 copy number loss See cases [RCV000510820] ChrX:78230501..155233731 [GRCh37]
ChrX:Xq21.1-28		 pathogenic
NM_016032.4(ZDHHC9):c.397A>C (p.Asn133His) single nucleotide variant Syndromic X-linked intellectual disability Raymond type [RCV000531396] ChrX:129823769 [GRCh38]
ChrX:128957745 [GRCh37]
ChrX:Xq26.1		 uncertain significance
NM_016032.4(ZDHHC9):c.881+3G>A single nucleotide variant Autism spectrum disorder [RCV003126890]|Syndromic X-linked intellectual disability Raymond type [RCV000646763] ChrX:129811403 [GRCh38]
ChrX:128945379 [GRCh37]
ChrX:Xq26.1		 likely benign|uncertain significance
NM_016032.4(ZDHHC9):c.332C>T (p.Ala111Val) single nucleotide variant Syndromic X-linked intellectual disability Raymond type [RCV000646764] ChrX:129823834 [GRCh38]
ChrX:128957810 [GRCh37]
ChrX:Xq26.1		 likely benign|uncertain significance
NM_016032.4(ZDHHC9):c.873G>A (p.Leu291=) single nucleotide variant Syndromic X-linked intellectual disability Raymond type [RCV000646765] ChrX:129811414 [GRCh38]
ChrX:128945390 [GRCh37]
ChrX:Xq26.1		 likely benign
NM_016032.4(ZDHHC9):c.626-10A>T single nucleotide variant Syndromic X-linked intellectual disability Raymond type [RCV000646766] ChrX:129813735 [GRCh38]
ChrX:128947711 [GRCh37]
ChrX:Xq26.1		 benign
NM_016032.4(ZDHHC9):c.674+9C>T single nucleotide variant Syndromic X-linked intellectual disability Raymond type [RCV000646767]|not provided [RCV001727788]|not specified [RCV001702538] ChrX:129813668 [GRCh38]
ChrX:128947644 [GRCh37]
ChrX:Xq26.1		 benign|likely benign
NM_016032.4(ZDHHC9):c.858G>T (p.Val286=) single nucleotide variant Syndromic X-linked intellectual disability Raymond type [RCV000646769] ChrX:129811429 [GRCh38]
ChrX:128945405 [GRCh37]
ChrX:Xq26.1		 likely benign
NM_016032.4(ZDHHC9):c.717_738del (p.Val240fs) deletion not provided [RCV000627547] ChrX:129812757..129812778 [GRCh38]
ChrX:128946733..128946754 [GRCh37]
ChrX:Xq26.1		 pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:57415659-155233731)x3 copy number gain See cases [RCV000512173] ChrX:57415659..155233731 [GRCh37]
ChrX:Xp11.21-q28		 pathogenic
GRCh37/hg19 Xq21.33-28(chrX:96499476-151870013)x3 copy number gain See cases [RCV000512365] ChrX:96499476..151870013 [GRCh37]
ChrX:Xq21.33-28		 uncertain significance
GRCh37/hg19 Xq22.1-28(chrX:98495811-155233731)x1 copy number loss See cases [RCV000512372] ChrX:98495811..155233731 [GRCh37]
ChrX:Xq22.1-28		 pathogenic
NM_016032.4(ZDHHC9):c.929G>A (p.Arg310Gln) single nucleotide variant Intellectual disability [RCV001260851]|Syndromic X-linked intellectual disability Raymond type [RCV000698036] ChrX:129810954 [GRCh38]
ChrX:128944930 [GRCh37]
ChrX:Xq26.1		 uncertain significance
GRCh37/hg19 Xq25-28(chrX:125733292-155233846)x1 copy number loss not provided [RCV000684386] ChrX:125733292..155233846 [GRCh37]
ChrX:Xq25-28		 pathogenic
GRCh37/hg19 Xq25-26.3(chrX:126759247-135790885)x1 copy number loss not provided [RCV000684387] ChrX:126759247..135790885 [GRCh37]
ChrX:Xq25-26.3		 pathogenic
GRCh37/hg19 Xq22.3-28(chrX:107823442-155233731)x1 copy number loss not provided [RCV000684373] ChrX:107823442..155233731 [GRCh37]
ChrX:Xq22.3-28		 pathogenic
GRCh37/hg19 Xq21.31-28(chrX:91140025-155233731)x1 copy number loss not provided [RCV000684357] ChrX:91140025..155233731 [GRCh37]
ChrX:Xq21.31-28		 pathogenic
GRCh37/hg19 Xq22.1-28(chrX:99324651-155233731)x1 copy number loss not provided [RCV000684363] ChrX:99324651..155233731 [GRCh37]
ChrX:Xq22.1-28		 pathogenic
GRCh37/hg19 Xq24-27.1(chrX:117998704-140159954)x3 copy number gain not provided [RCV000684377] ChrX:117998704..140159954 [GRCh37]
ChrX:Xq24-27.1		 pathogenic
GRCh37/hg19 Xq24-27.1(chrX:120777368-139345946)x1 copy number loss not provided [RCV000684380] ChrX:120777368..139345946 [GRCh37]
ChrX:Xq24-27.1		 pathogenic
NM_016032.4(ZDHHC9):c.1001C>T (p.Ser334Leu) single nucleotide variant Syndromic X-linked intellectual disability Raymond type [RCV000700466] ChrX:129806464 [GRCh38]
ChrX:128940440 [GRCh37]
ChrX:Xq26.1		 uncertain significance
NM_016032.4(ZDHHC9):c.598G>A (p.Ala200Thr) single nucleotide variant Syndromic X-linked intellectual disability Raymond type [RCV000695094] ChrX:129814685 [GRCh38]
ChrX:128948661 [GRCh37]
ChrX:Xq26.1		 likely benign|uncertain significance
NM_016032.4(ZDHHC9):c.1013C>T (p.Pro338Leu) single nucleotide variant Syndromic X-linked intellectual disability Raymond type [RCV000690755] ChrX:129806452 [GRCh38]
ChrX:128940428 [GRCh37]
ChrX:Xq26.1		 uncertain significance
GRCh37/hg19 Xq26.1(chrX:128723451-129281476)x2 copy number gain not provided [RCV000753774] ChrX:128723451..129281476 [GRCh37]
ChrX:Xq26.1		 benign
GRCh37/hg19 Xq11.1-28(chrX:61694576-155254881)x1 copy number loss not provided [RCV000753556] ChrX:61694576..155254881 [GRCh37]
ChrX:Xq11.1-28		 pathogenic
Single allele duplication Autism [RCV000754365] ChrX:1..156040895 [GRCh38]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155254881)x2 copy number gain not provided [RCV000753277] ChrX:60814..155254881 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xq13.2-28(chrX:73472626-155254881)x1 copy number loss not provided [RCV000753606] ChrX:73472626..155254881 [GRCh37]
ChrX:Xq13.2-28		 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
GRCh37/hg19 Xp22.33-q28(chrX:60814-155236712)x2 copy number gain not provided [RCV000753276] ChrX:60814..155236712 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
NM_016032.4(ZDHHC9):c.487+204C>T single nucleotide variant not provided [RCV001648128] ChrX:129823475 [GRCh38]
ChrX:128957451 [GRCh37]
ChrX:Xq26.1		 benign
NM_016032.4(ZDHHC9):c.789A>G (p.Ser263=) single nucleotide variant Syndromic X-linked intellectual disability Raymond type [RCV001415357] ChrX:129811498 [GRCh38]
ChrX:128945474 [GRCh37]
ChrX:Xq26.1		 likely benign
NM_016032.4(ZDHHC9):c.1045C>T (p.Pro349Ser) single nucleotide variant Syndromic X-linked intellectual disability Raymond type [RCV002032563]|not provided [RCV001546678] ChrX:129806420 [GRCh38]
ChrX:128940396 [GRCh37]
ChrX:Xq26.1		 likely benign|uncertain significance
NC_000023.10:g.36649710_136649711del100000002insG indel Heterotaxy, visceral, 1, X-linked [RCV000754886] ChrX:36649710..136649711 [GRCh37]
ChrX:Xp21.1-q26.3		 pathogenic
NM_016032.4(ZDHHC9):c.268G>A (p.Asp90Asn) single nucleotide variant Syndromic X-linked intellectual disability Raymond type [RCV000760177] ChrX:129829041 [GRCh38]
ChrX:128963017 [GRCh37]
ChrX:Xq26.1		 likely pathogenic
NM_016032.4(ZDHHC9):c.328+145C>T single nucleotide variant not provided [RCV001641223] ChrX:129828836 [GRCh38]
ChrX:128962812 [GRCh37]
ChrX:Xq26.1		 benign
NM_016032.4(ZDHHC9):c.-204+6G>T single nucleotide variant Syndromic X-linked intellectual disability Raymond type [RCV002471124]|not provided [RCV001573474] ChrX:129843690 [GRCh38]
ChrX:128977666 [GRCh37]
ChrX:Xq26.1		 benign|likely benign
NM_016032.4(ZDHHC9):c.675-80C>A single nucleotide variant not provided [RCV001692841] ChrX:129812900 [GRCh38]
ChrX:128946876 [GRCh37]
ChrX:Xq26.1		 benign
NM_016032.4(ZDHHC9):c.167+33T>C single nucleotide variant not provided [RCV001678843] ChrX:129841746 [GRCh38]
ChrX:128975722 [GRCh37]
ChrX:Xq26.1		 benign
NM_016032.4(ZDHHC9):c.85G>A (p.Val29Ile) single nucleotide variant Syndromic X-linked intellectual disability Raymond type [RCV001034433] ChrX:129841861 [GRCh38]
ChrX:128975837 [GRCh37]
ChrX:Xq26.1		 likely benign
NM_016032.4(ZDHHC9):c.925A>G (p.Ser309Gly) single nucleotide variant Syndromic X-linked intellectual disability Raymond type [RCV001070420] ChrX:129810958 [GRCh38]
ChrX:128944934 [GRCh37]
ChrX:Xq26.1		 uncertain significance
GRCh37/hg19 Xp11.1-q28(chrX:58455352-155233731)x1 copy number loss not provided [RCV000846274] ChrX:58455352..155233731 [GRCh37]
ChrX:Xp11.1-q28		 pathogenic
GRCh37/hg19 Xq22.3-28(chrX:104098124-155233731)x1 copy number loss not provided [RCV000846958] ChrX:104098124..155233731 [GRCh37]
ChrX:Xq22.3-28		 pathogenic
NM_016032.4(ZDHHC9):c.9G>A (p.Val3=) single nucleotide variant Syndromic X-linked intellectual disability Raymond type [RCV001438620] ChrX:129841937 [GRCh38]
ChrX:128975913 [GRCh37]
ChrX:Xq26.1		 likely benign
NM_016032.4(ZDHHC9):c.141G>A (p.Gly47=) single nucleotide variant Syndromic X-linked intellectual disability Raymond type [RCV001471572] ChrX:129841805 [GRCh38]
ChrX:128975781 [GRCh37]
ChrX:Xq26.1		 likely benign
NM_016032.4(ZDHHC9):c.167+9C>T single nucleotide variant Syndromic X-linked intellectual disability Raymond type [RCV001520044] ChrX:129841770 [GRCh38]
ChrX:128975746 [GRCh37]
ChrX:Xq26.1		 benign
NM_016032.4(ZDHHC9):c.399C>A (p.Asn133Lys) single nucleotide variant Syndromic X-linked intellectual disability Raymond type [RCV000794288] ChrX:129823767 [GRCh38]
ChrX:128957743 [GRCh37]
ChrX:Xq26.1		 uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain not provided [RCV000846039] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xq24-28(chrX:118150047-155233731)x1 copy number loss not provided [RCV000847838] ChrX:118150047..155233731 [GRCh37]
ChrX:Xq24-28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss not provided [RCV000848828] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xq21.1-28(chrX:84387417-155233731)x1 copy number loss not provided [RCV001007322] ChrX:84387417..155233731 [GRCh37]
ChrX:Xq21.1-28		 pathogenic
GRCh37/hg19 Xq25-26.1(chrX:128194529-129017909)x3 copy number gain not provided [RCV001007343] ChrX:128194529..129017909 [GRCh37]
ChrX:Xq25-26.1		 uncertain significance
GRCh37/hg19 Xq25-28(chrX:122132166-155097214) copy number loss Intellectual disability [RCV001249592] ChrX:122132166..155097214 [GRCh37]
ChrX:Xq25-28		 likely pathogenic
GRCh37/hg19 Xq21.32-28(chrX:92814516-155233731)x1 copy number loss not provided [RCV000845672] ChrX:92814516..155233731 [GRCh37]
ChrX:Xq21.32-28		 pathogenic
NM_016032.4(ZDHHC9):c.1075G>A (p.Ala359Thr) single nucleotide variant Syndromic X-linked intellectual disability Raymond type [RCV001223206] ChrX:129806390 [GRCh38]
ChrX:128940366 [GRCh37]
ChrX:Xq26.1		 uncertain significance
NM_016032.4(ZDHHC9):c.160G>A (p.Ala54Thr) single nucleotide variant Syndromic X-linked intellectual disability Raymond type [RCV001239527] ChrX:129841786 [GRCh38]
ChrX:128975762 [GRCh37]
ChrX:Xq26.1		 uncertain significance
GRCh37/hg19 Xq25-28(chrX:122757437-155208244)x1 copy number loss Premature ovarian insufficiency [RCV000852349] ChrX:122757437..155208244 [GRCh37]
ChrX:Xq25-28		 likely pathogenic
GRCh37/hg19 Xq25-28(chrX:122924044-155233731)x1 copy number loss not provided [RCV000849097] ChrX:122924044..155233731 [GRCh37]
ChrX:Xq25-28		 pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:54941868-155233731)x1 copy number loss not provided [RCV000848218] ChrX:54941868..155233731 [GRCh37]
ChrX:Xp11.21-q28		 uncertain significance
NM_016032.4(ZDHHC9):c.202A>G (p.Ile68Val) single nucleotide variant Inborn genetic diseases [RCV003292484] ChrX:129829107 [GRCh38]
ChrX:128963083 [GRCh37]
ChrX:Xq26.1		 uncertain significance
NM_016032.4(ZDHHC9):c.888G>A (p.Leu296=) single nucleotide variant Syndromic X-linked intellectual disability Raymond type [RCV001246233] ChrX:129810995 [GRCh38]
ChrX:128944971 [GRCh37]
ChrX:Xq26.1		 likely benign|uncertain significance
NM_016032.4(ZDHHC9):c.329-222dup duplication not provided [RCV001616264] ChrX:129824051..129824052 [GRCh38]
ChrX:128958027..128958028 [GRCh37]
ChrX:Xq26.1		 benign
NM_016032.4(ZDHHC9):c.778-209T>C single nucleotide variant not provided [RCV001693617] ChrX:129811718 [GRCh38]
ChrX:128945694 [GRCh37]
ChrX:Xq26.1		 benign
NM_016032.4(ZDHHC9):c.*105C>T single nucleotide variant not provided [RCV001708151] ChrX:129806265 [GRCh38]
ChrX:128940241 [GRCh37]
ChrX:Xq26.1		 benign
NM_016032.4(ZDHHC9):c.291G>A (p.Ala97=) single nucleotide variant Syndromic X-linked intellectual disability Raymond type [RCV000914795]|not provided [RCV003438585] ChrX:129829018 [GRCh38]
ChrX:128962994 [GRCh37]
ChrX:Xq26.1		 benign|likely benign
NM_016032.4(ZDHHC9):c.369G>A (p.Pro123=) single nucleotide variant Syndromic X-linked intellectual disability Raymond type [RCV001517335] ChrX:129823797 [GRCh38]
ChrX:128957773 [GRCh37]
ChrX:Xq26.1		 benign
NM_016032.4(ZDHHC9):c.579C>T (p.Leu193=) single nucleotide variant Syndromic X-linked intellectual disability Raymond type [RCV001481952] ChrX:129814704 [GRCh38]
ChrX:128948680 [GRCh37]
ChrX:Xq26.1		 likely benign
NM_016032.4(ZDHHC9):c.949A>T (p.Thr317Ser) single nucleotide variant Syndromic X-linked intellectual disability Raymond type [RCV002560163]|not specified [RCV001193307] ChrX:129810934 [GRCh38]
ChrX:128944910 [GRCh37]
ChrX:Xq26.1		 uncertain significance
GRCh37/hg19 Xq24-26.1(chrX:117119895-129850963)x2 copy number gain not provided [RCV001007336] ChrX:117119895..129850963 [GRCh37]
ChrX:Xq24-26.1		 pathogenic
NM_016032.4(ZDHHC9):c.673A>G (p.Thr225Ala) single nucleotide variant Syndromic X-linked intellectual disability Raymond type [RCV001241781] ChrX:129813678 [GRCh38]
ChrX:128947654 [GRCh37]
ChrX:Xq26.1		 uncertain significance
NM_016032.4(ZDHHC9):c.36G>C (p.Arg12=) single nucleotide variant Syndromic X-linked intellectual disability Raymond type [RCV001468042] ChrX:129841910 [GRCh38]
ChrX:128975886 [GRCh37]
ChrX:Xq26.1		 likely benign
NM_016032.4(ZDHHC9):c.1033G>A (p.Glu345Lys) single nucleotide variant Syndromic X-linked intellectual disability Raymond type [RCV000913293] ChrX:129806432 [GRCh38]
ChrX:128940408 [GRCh37]
ChrX:Xq26.1		 benign
GRCh37/hg19 Xq25-26.1(chrX:127753972-129202285)x2 copy number gain not provided [RCV002472765] ChrX:127753972..129202285 [GRCh37]
ChrX:Xq25-26.1		 uncertain significance
NM_016032.4(ZDHHC9):c.488-122A>G single nucleotide variant not provided [RCV001676110] ChrX:129814917 [GRCh38]
ChrX:128948893 [GRCh37]
ChrX:Xq26.1		 benign
GRCh37/hg19 Xp22.33-q28(chrX:200855-155240074) copy number gain Klinefelter syndrome [RCV003236730] ChrX:200855..155240074 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
NM_016032.4(ZDHHC9):c.523T>G (p.Cys175Gly) single nucleotide variant Syndromic X-linked intellectual disability Raymond type [RCV002254828] ChrX:129814760 [GRCh38]
ChrX:128948736 [GRCh37]
ChrX:Xq26.1		 uncertain significance
NM_016032.4(ZDHHC9):c.487+14C>T single nucleotide variant not provided [RCV001676286] ChrX:129823665 [GRCh38]
ChrX:128957641 [GRCh37]
ChrX:Xq26.1		 benign
NM_016032.4(ZDHHC9):c.488-127del deletion not provided [RCV001598827] ChrX:129814922 [GRCh38]
ChrX:128948898 [GRCh37]
ChrX:Xq26.1		 benign
NC_000023.10:g.(?_128946967)_(128948896_?)del deletion Syndromic X-linked intellectual disability Raymond type [RCV001093640] ChrX:128946967..128948896 [GRCh37]
ChrX:Xq26.1		 pathogenic
GRCh37/hg19 Xq21.1-28(chrX:78444738-155233731)x1 copy number loss not provided [RCV001007318] ChrX:78444738..155233731 [GRCh37]
ChrX:Xq21.1-28		 pathogenic
NM_016032.4(ZDHHC9):c.882-62G>A single nucleotide variant not provided [RCV001670658] ChrX:129811063 [GRCh38]
ChrX:128945039 [GRCh37]
ChrX:Xq26.1		 benign
NM_016032.4(ZDHHC9):c.808G>A (p.Val270Ile) single nucleotide variant Syndromic X-linked intellectual disability Raymond type [RCV001034122] ChrX:129811479 [GRCh38]
ChrX:128945455 [GRCh37]
ChrX:Xq26.1		 likely benign
NM_016032.4(ZDHHC9):c.53C>G (p.Pro18Arg) single nucleotide variant Syndromic X-linked intellectual disability Raymond type [RCV001234524] ChrX:129841893 [GRCh38]
ChrX:128975869 [GRCh37]
ChrX:Xq26.1		 uncertain significance
NM_016032.4(ZDHHC9):c.852dup (p.Glu285Ter) duplication Syndromic X-linked intellectual disability Raymond type [RCV001199032] ChrX:129811434..129811435 [GRCh38]
ChrX:128945410..128945411 [GRCh37]
ChrX:Xq26.1		 likely pathogenic
NM_016032.4(ZDHHC9):c.98G>A (p.Arg33Gln) single nucleotide variant See cases [RCV001810497]|Syndromic X-linked intellectual disability Raymond type [RCV001212778] ChrX:129841848 [GRCh38]
ChrX:128975824 [GRCh37]
ChrX:Xq26.1		 uncertain significance
NC_000023.10:g.(?_128674397)_(128975941_?)dup duplication Syndromic X-linked intellectual disability Raymond type [RCV001031704] ChrX:128674397..128975941 [GRCh37]
ChrX:Xq25-26.1		 uncertain significance
NM_016032.4(ZDHHC9):c.354G>C (p.Gln118His) single nucleotide variant Syndromic X-linked intellectual disability Raymond type [RCV001198121] ChrX:129823812 [GRCh38]
ChrX:128957788 [GRCh37]
ChrX:Xq26.1		 benign
NM_016032.4(ZDHHC9):c.487+8A>G single nucleotide variant Syndromic X-linked intellectual disability Raymond type [RCV001228824] ChrX:129823671 [GRCh38]
ChrX:128957647 [GRCh37]
ChrX:Xq26.1		 likely benign|uncertain significance
NM_016032.4(ZDHHC9):c.362G>A (p.Arg121Gln) single nucleotide variant Syndromic X-linked intellectual disability Raymond type [RCV001210933] ChrX:129823804 [GRCh38]
ChrX:128957780 [GRCh37]
ChrX:Xq26.1		 uncertain significance
GRCh37/hg19 Xq26.1(chrX:128919362-129255906)x3 copy number gain not provided [RCV001259505] ChrX:128919362..129255906 [GRCh37]
ChrX:Xq26.1		 uncertain significance
NM_016032.4(ZDHHC9):c.881+1G>C single nucleotide variant Intellectual disability [RCV001260845] ChrX:129811405 [GRCh38]
ChrX:128945381 [GRCh37]
ChrX:Xq26.1		 likely pathogenic
NM_016032.4(ZDHHC9):c.267T>G (p.Ser89Arg) single nucleotide variant Inborn genetic diseases [RCV001265737] ChrX:129829042 [GRCh38]
ChrX:128963018 [GRCh37]
ChrX:Xq26.1		 uncertain significance
GRCh37/hg19 Xq24-26.1(chrX:117120780-129850994)x3 copy number gain not provided [RCV001259495] ChrX:117120780..129850994 [GRCh37]
ChrX:Xq24-26.1		 pathogenic
GRCh37/hg19 Xq21.1-28(chrX:77670699-155233731)x1 copy number loss See cases [RCV002285075] ChrX:77670699..155233731 [GRCh37]
ChrX:Xq21.1-28		 pathogenic
NM_016032.4(ZDHHC9):c.764C>A (p.Thr255Lys) single nucleotide variant Syndromic X-linked intellectual disability Raymond type [RCV001294819] ChrX:129812731 [GRCh38]
ChrX:128946707 [GRCh37]
ChrX:Xq26.1		 uncertain significance
NM_016032.4(ZDHHC9):c.287G>A (p.Arg96Gln) single nucleotide variant Neurodevelopmental abnormality [RCV001264623] ChrX:129829022 [GRCh38]
ChrX:128962998 [GRCh37]
ChrX:Xq26.1		 uncertain significance
GRCh37/hg19 Xq21.33-28(chrX:94264404-155233731)x1 copy number loss not provided [RCV001259012] ChrX:94264404..155233731 [GRCh37]
ChrX:Xq21.33-28		 pathogenic
NM_016032.4(ZDHHC9):c.748G>A (p.Val250Met) single nucleotide variant Inborn genetic diseases [RCV001267624] ChrX:129812747 [GRCh38]
ChrX:128946723 [GRCh37]
ChrX:Xq26.1		 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
NM_016032.4(ZDHHC9):c.743dup (p.Leu249fs) duplication Inborn genetic diseases [RCV001266420] ChrX:129812751..129812752 [GRCh38]
ChrX:128946727..128946728 [GRCh37]
ChrX:Xq26.1		 pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:55507789-155198481)x3 copy number gain See cases [RCV001263024] ChrX:55507789..155198481 [GRCh37]
ChrX:Xp11.21-q28		 pathogenic
NM_016032.4(ZDHHC9):c.718G>C (p.Val240Leu) single nucleotide variant Syndromic X-linked intellectual disability Raymond type [RCV001301739] ChrX:129812777 [GRCh38]
ChrX:128946753 [GRCh37]
ChrX:Xq26.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_016032.4(ZDHHC9):c.421T>C (p.Cys141Arg) single nucleotide variant Syndromic X-linked intellectual disability Raymond type [RCV001330898] ChrX:129823745 [GRCh38]
ChrX:128957721 [GRCh37]
ChrX:Xq26.1		 uncertain significance
NM_016032.4(ZDHHC9):c.1025G>A (p.Ser342Asn) single nucleotide variant Syndromic X-linked intellectual disability Raymond type [RCV001352371] ChrX:129806440 [GRCh38]
ChrX:128940416 [GRCh37]
ChrX:Xq26.1		 uncertain significance
GRCh37/hg19 Xp11.21-q28(chrX:56469080-155233731)x3 copy number gain not provided [RCV001281359] ChrX:56469080..155233731 [GRCh37]
ChrX:Xp11.21-q28		 pathogenic
NM_016032.4(ZDHHC9):c.384T>C (p.Asn128=) single nucleotide variant Syndromic X-linked intellectual disability Raymond type [RCV001433224] ChrX:129823782 [GRCh38]
ChrX:128957758 [GRCh37]
ChrX:Xq26.1		 likely benign
NM_016032.4(ZDHHC9):c.549C>T (p.Tyr183=) single nucleotide variant Syndromic X-linked intellectual disability Raymond type [RCV001391992] ChrX:129814734 [GRCh38]
ChrX:128948710 [GRCh37]
ChrX:Xq26.1		 likely benign
NM_016032.4(ZDHHC9):c.274G>A (p.Gly92Arg) single nucleotide variant Syndromic X-linked intellectual disability Raymond type [RCV001370081]|not provided [RCV002466668] ChrX:129829035 [GRCh38]
ChrX:128963011 [GRCh37]
ChrX:Xq26.1		 uncertain significance
NM_016032.4(ZDHHC9):c.20G>C (p.Arg7Thr) single nucleotide variant Syndromic X-linked intellectual disability Raymond type [RCV001347129] ChrX:129841926 [GRCh38]
ChrX:128975902 [GRCh37]
ChrX:Xq26.1		 uncertain significance
NM_016032.4(ZDHHC9):c.989A>G (p.Glu330Gly) single nucleotide variant Syndromic X-linked intellectual disability Raymond type [RCV001363398] ChrX:129806476 [GRCh38]
ChrX:128940452 [GRCh37]
ChrX:Xq26.1		 uncertain significance
NM_016032.4(ZDHHC9):c.313A>G (p.Ile105Val) single nucleotide variant Syndromic X-linked intellectual disability Raymond type [RCV001366642] ChrX:129828996 [GRCh38]
ChrX:128962972 [GRCh37]
ChrX:Xq26.1		 uncertain significance
NM_016032.4(ZDHHC9):c.614A>G (p.Tyr205Cys) single nucleotide variant Syndromic X-linked intellectual disability Raymond type [RCV001361180] ChrX:129814669 [GRCh38]
ChrX:128948645 [GRCh37]
ChrX:Xq26.1		 uncertain significance
NM_016032.4(ZDHHC9):c.488-9C>A single nucleotide variant Syndromic X-linked intellectual disability Raymond type [RCV001421452] ChrX:129814804 [GRCh38]
ChrX:128948780 [GRCh37]
ChrX:Xq26.1		 likely benign
NM_016032.4(ZDHHC9):c.443G>A (p.Arg148Gln) single nucleotide variant Syndromic X-linked intellectual disability Raymond type [RCV001365857] ChrX:129823723 [GRCh38]
ChrX:128957699 [GRCh37]
ChrX:Xq26.1		 uncertain significance
NM_016032.4(ZDHHC9):c.861G>T (p.Leu287=) single nucleotide variant Syndromic X-linked intellectual disability Raymond type [RCV001506410] ChrX:129811426 [GRCh38]
ChrX:128945402 [GRCh37]
ChrX:Xq26.1		 likely benign
NM_016032.4(ZDHHC9):c.357C>A (p.Gly119=) single nucleotide variant Syndromic X-linked intellectual disability Raymond type [RCV001503415] ChrX:129823809 [GRCh38]
ChrX:128957785 [GRCh37]
ChrX:Xq26.1		 likely benign
NM_016032.4(ZDHHC9):c.881+8G>C single nucleotide variant Syndromic X-linked intellectual disability Raymond type [RCV001477054] ChrX:129811398 [GRCh38]
ChrX:128945374 [GRCh37]
ChrX:Xq26.1		 likely benign
NM_016032.4(ZDHHC9):c.414G>T (p.Leu138=) single nucleotide variant Syndromic X-linked intellectual disability Raymond type [RCV001481429] ChrX:129823752 [GRCh38]
ChrX:128957728 [GRCh37]
ChrX:Xq26.1		 likely benign
NM_016032.4(ZDHHC9):c.51C>T (p.Leu17=) single nucleotide variant Syndromic X-linked intellectual disability Raymond type [RCV001481642] ChrX:129841895 [GRCh38]
ChrX:128975871 [GRCh37]
ChrX:Xq26.1		 likely benign
NM_016032.4(ZDHHC9):c.488-141dup duplication not provided [RCV001665015] ChrX:129814921..129814922 [GRCh38]
ChrX:128948897..128948898 [GRCh37]
ChrX:Xq26.1		 benign
NM_016032.4(ZDHHC9):c.881+10G>C single nucleotide variant Syndromic X-linked intellectual disability Raymond type [RCV001448767] ChrX:129811396 [GRCh38]
ChrX:128945372 [GRCh37]
ChrX:Xq26.1		 likely benign
NM_016032.4(ZDHHC9):c.984C>G (p.Pro328=) single nucleotide variant Syndromic X-linked intellectual disability Raymond type [RCV001510245] ChrX:129806481 [GRCh38]
ChrX:128940457 [GRCh37]
ChrX:Xq26.1		 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_016032.4(ZDHHC9):c.675-22A>G single nucleotide variant not provided [RCV001649695] ChrX:129812842 [GRCh38]
ChrX:128946818 [GRCh37]
ChrX:Xq26.1		 benign
NM_016032.4(ZDHHC9):c.625+123A>G single nucleotide variant not provided [RCV001674929] ChrX:129814535 [GRCh38]
ChrX:128948511 [GRCh37]
ChrX:Xq26.1		 benign
NM_016032.4(ZDHHC9):c.324G>A (p.Glu108=) single nucleotide variant Syndromic X-linked intellectual disability Raymond type [RCV001498552] ChrX:129828985 [GRCh38]
ChrX:128962961 [GRCh37]
ChrX:Xq26.1		 likely benign
NM_016032.4(ZDHHC9):c.1014G>A (p.Pro338=) single nucleotide variant Syndromic X-linked intellectual disability Raymond type [RCV001519306] ChrX:129806451 [GRCh38]
ChrX:128940427 [GRCh37]
ChrX:Xq26.1		 benign
NM_016032.4(ZDHHC9):c.1032C>T (p.Pro344=) single nucleotide variant Syndromic X-linked intellectual disability Raymond type [RCV001523441] ChrX:129806433 [GRCh38]
ChrX:128940409 [GRCh37]
ChrX:Xq26.1		 benign
NM_016032.4(ZDHHC9):c.429A>G (p.Thr143=) single nucleotide variant Syndromic X-linked intellectual disability Raymond type [RCV001441523] ChrX:129823737 [GRCh38]
ChrX:128957713 [GRCh37]
ChrX:Xq26.1		 likely benign
NM_016032.4(ZDHHC9):c.488-5del deletion Syndromic X-linked intellectual disability Raymond type [RCV001437347] ChrX:129814800 [GRCh38]
ChrX:128948776 [GRCh37]
ChrX:Xq26.1		 likely benign
NM_016032.4(ZDHHC9):c.979-6T>C single nucleotide variant Syndromic X-linked intellectual disability Raymond type [RCV001394131] ChrX:129806492 [GRCh38]
ChrX:128940468 [GRCh37]
ChrX:Xq26.1		 likely benign
NM_016032.4(ZDHHC9):c.601T>C (p.Phe201Leu) single nucleotide variant Syndromic X-linked intellectual disability Raymond type [RCV002273313] ChrX:129814682 [GRCh38]
ChrX:128948658 [GRCh37]
ChrX:Xq26.1		 uncertain significance
NM_016032.4(ZDHHC9):c.346G>A (p.Val116Met) single nucleotide variant not provided [RCV003238674] ChrX:129823820 [GRCh38]
ChrX:128957796 [GRCh37]
ChrX:Xq26.1		 uncertain significance
NM_016032.4(ZDHHC9):c.418T>C (p.Tyr140His) single nucleotide variant not provided [RCV001770561] ChrX:129823748 [GRCh38]
ChrX:128957724 [GRCh37]
ChrX:Xq26.1		 uncertain significance
NM_016032.4(ZDHHC9):c.984del (p.Thr329fs) deletion Syndromic X-linked intellectual disability Raymond type [RCV003509685]|not provided [RCV001754671] ChrX:129806481 [GRCh38]
ChrX:128940457 [GRCh37]
ChrX:Xq26.1		 uncertain significance
NM_016032.4(ZDHHC9):c.496G>A (p.Asp166Asn) single nucleotide variant Syndromic X-linked intellectual disability Raymond type [RCV001754546]|not provided [RCV003321869] ChrX:129814787 [GRCh38]
ChrX:128948763 [GRCh37]
ChrX:Xq26.1		 likely pathogenic|conflicting interpretations of pathogenicity
NM_016032.4(ZDHHC9):c.304G>A (p.Ala102Thr) single nucleotide variant not provided [RCV001768581] ChrX:129829005 [GRCh38]
ChrX:128962981 [GRCh37]
ChrX:Xq26.1		 uncertain significance
NM_016032.4(ZDHHC9):c.58A>T (p.Arg20Trp) single nucleotide variant not provided [RCV001768747] ChrX:129841888 [GRCh38]
ChrX:128975864 [GRCh37]
ChrX:Xq26.1		 uncertain significance
NM_016032.4(ZDHHC9):c.425A>T (p.Tyr142Phe) single nucleotide variant not provided [RCV001769026] ChrX:129823741 [GRCh38]
ChrX:128957717 [GRCh37]
ChrX:Xq26.1		 uncertain significance
NM_016032.4(ZDHHC9):c.1054C>A (p.Pro352Thr) single nucleotide variant Syndromic X-linked intellectual disability Raymond type [RCV002001031] ChrX:129806411 [GRCh38]
ChrX:128940387 [GRCh37]
ChrX:Xq26.1		 uncertain significance
GRCh37/hg19 Xq25-26.2(chrX:126307810-131646710) copy number gain not specified [RCV002053180] ChrX:126307810..131646710 [GRCh37]
ChrX:Xq25-26.2		 pathogenic
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_016032.4(ZDHHC9):c.1055C>G (p.Pro352Arg) single nucleotide variant Syndromic X-linked intellectual disability Raymond type [RCV002001367] ChrX:129806410 [GRCh38]
ChrX:128940386 [GRCh37]
ChrX:Xq26.1		 uncertain significance
NM_016032.4(ZDHHC9):c.544C>T (p.Arg182Cys) single nucleotide variant Syndromic X-linked intellectual disability Raymond type [RCV002017156] ChrX:129814739 [GRCh38]
ChrX:128948715 [GRCh37]
ChrX:Xq26.1		 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
NM_016032.4(ZDHHC9):c.1028C>T (p.Thr343Ile) single nucleotide variant Syndromic X-linked intellectual disability Raymond type [RCV001924440] ChrX:129806437 [GRCh38]
ChrX:128940413 [GRCh37]
ChrX:Xq26.1		 uncertain significance
NM_016032.4(ZDHHC9):c.778A>G (p.Ile260Val) single nucleotide variant Syndromic X-linked intellectual disability Raymond type [RCV001984051] ChrX:129811509 [GRCh38]
ChrX:128945485 [GRCh37]
ChrX:Xq26.1		 uncertain significance
NM_016032.4(ZDHHC9):c.244A>G (p.Thr82Ala) single nucleotide variant Syndromic X-linked intellectual disability Raymond type [RCV001923595]|not provided [RCV003322904] ChrX:129829065 [GRCh38]
ChrX:128963041 [GRCh37]
ChrX:Xq26.1		 uncertain significance
NM_016032.4(ZDHHC9):c.344C>T (p.Ala115Val) single nucleotide variant Syndromic X-linked intellectual disability Raymond type [RCV001916191] ChrX:129823822 [GRCh38]
ChrX:128957798 [GRCh37]
ChrX:Xq26.1		 uncertain significance
NM_016032.4(ZDHHC9):c.561C>T (p.Phe187=) single nucleotide variant Syndromic X-linked intellectual disability Raymond type [RCV002130548] ChrX:129814722 [GRCh38]
ChrX:128948698 [GRCh37]
ChrX:Xq26.1		 likely benign
NM_016032.4(ZDHHC9):c.487+14_487+15inv inversion Inborn genetic diseases [RCV002337201]|Syndromic X-linked intellectual disability Raymond type [RCV002186750] ChrX:129823664..129823665 [GRCh38]
ChrX:128957640..128957641 [GRCh37]
ChrX:Xq26.1		 benign|likely benign
NM_016032.4(ZDHHC9):c.978+15C>T single nucleotide variant Syndromic X-linked intellectual disability Raymond type [RCV002189664] ChrX:129810890 [GRCh38]
ChrX:128944866 [GRCh37]
ChrX:Xq26.1		 benign
NM_016032.4(ZDHHC9):c.136C>T (p.Leu46=) single nucleotide variant Inborn genetic diseases [RCV002382311]|Syndromic X-linked intellectual disability Raymond type [RCV002205529] ChrX:129841810 [GRCh38]
ChrX:128975786 [GRCh37]
ChrX:Xq26.1		 likely benign
NM_016032.4(ZDHHC9):c.328+11C>T single nucleotide variant Syndromic X-linked intellectual disability Raymond type [RCV002111227] ChrX:129828970 [GRCh38]
ChrX:128962946 [GRCh37]
ChrX:Xq26.1		 likely benign
NM_016032.4(ZDHHC9):c.412C>A (p.Leu138Met) single nucleotide variant Syndromic X-linked intellectual disability Raymond type [RCV003774650]|not provided [RCV002224161] ChrX:129823754 [GRCh38]
ChrX:128957730 [GRCh37]
ChrX:Xq26.1		 uncertain significance
NM_016032.4(ZDHHC9):c.795A>T (p.Thr265=) single nucleotide variant Syndromic X-linked intellectual disability Raymond type [RCV002089984] ChrX:129811492 [GRCh38]
ChrX:128945468 [GRCh37]
ChrX:Xq26.1		 likely benign
NM_016032.4(ZDHHC9):c.159C>T (p.Phe53=) single nucleotide variant Syndromic X-linked intellectual disability Raymond type [RCV002133934] ChrX:129841787 [GRCh38]
ChrX:128975763 [GRCh37]
ChrX:Xq26.1		 likely benign
NM_016032.4(ZDHHC9):c.674+7T>C single nucleotide variant Syndromic X-linked intellectual disability Raymond type [RCV002195369] ChrX:129813670 [GRCh38]
ChrX:128947646 [GRCh37]
ChrX:Xq26.1		 likely benign
NM_016032.4(ZDHHC9):c.488-17C>T single nucleotide variant Syndromic X-linked intellectual disability Raymond type [RCV002195497] ChrX:129814812 [GRCh38]
ChrX:128948788 [GRCh37]
ChrX:Xq26.1		 likely benign
NM_016032.4(ZDHHC9):c.777+16C>T single nucleotide variant Syndromic X-linked intellectual disability Raymond type [RCV002132078] ChrX:129812702 [GRCh38]
ChrX:128946678 [GRCh37]
ChrX:Xq26.1		 benign
NM_016032.4(ZDHHC9):c.674+11C>T single nucleotide variant Syndromic X-linked intellectual disability Raymond type [RCV002193249] ChrX:129813666 [GRCh38]
ChrX:128947642 [GRCh37]
ChrX:Xq26.1		 benign
NM_016032.4(ZDHHC9):c.979-18A>G single nucleotide variant Syndromic X-linked intellectual disability Raymond type [RCV002179659] ChrX:129806504 [GRCh38]
ChrX:128940480 [GRCh37]
ChrX:Xq26.1		 benign
NM_016032.4(ZDHHC9):c.936C>T (p.Pro312=) single nucleotide variant Syndromic X-linked intellectual disability Raymond type [RCV002136084] ChrX:129810947 [GRCh38]
ChrX:128944923 [GRCh37]
ChrX:Xq26.1		 likely benign
NM_016032.4(ZDHHC9):c.626-11C>T single nucleotide variant Syndromic X-linked intellectual disability Raymond type [RCV002181897] ChrX:129813736 [GRCh38]
ChrX:128947712 [GRCh37]
ChrX:Xq26.1		 likely benign
NM_016032.4(ZDHHC9):c.328+17G>T single nucleotide variant Syndromic X-linked intellectual disability Raymond type [RCV002081166] ChrX:129828964 [GRCh38]
ChrX:128962940 [GRCh37]
ChrX:Xq26.1		 likely benign
NM_016032.4(ZDHHC9):c.666T>A (p.Thr222=) single nucleotide variant Syndromic X-linked intellectual disability Raymond type [RCV002217106] ChrX:129813685 [GRCh38]
ChrX:128947661 [GRCh37]
ChrX:Xq26.1		 likely benign
NM_016032.4(ZDHHC9):c.487+17G>A single nucleotide variant Syndromic X-linked intellectual disability Raymond type [RCV002136070] ChrX:129823662 [GRCh38]
ChrX:128957638 [GRCh37]
ChrX:Xq26.1		 benign
NM_016032.4(ZDHHC9):c.674+20T>C single nucleotide variant Syndromic X-linked intellectual disability Raymond type [RCV002156588] ChrX:129813657 [GRCh38]
ChrX:128947633 [GRCh37]
ChrX:Xq26.1		 benign
NM_016032.4(ZDHHC9):c.488-19CT[3] microsatellite Syndromic X-linked intellectual disability Raymond type [RCV002084089] ChrX:129814807..129814808 [GRCh38]
ChrX:128948783..128948784 [GRCh37]
ChrX:Xq26.1		 benign
NM_016032.4(ZDHHC9):c.488-15C>T single nucleotide variant Syndromic X-linked intellectual disability Raymond type [RCV002164007] ChrX:129814810 [GRCh38]
ChrX:128948786 [GRCh37]
ChrX:Xq26.1		 likely benign
NM_016032.4(ZDHHC9):c.144A>G (p.Thr48=) single nucleotide variant Syndromic X-linked intellectual disability Raymond type [RCV002082275] ChrX:129841802 [GRCh38]
ChrX:128975778 [GRCh37]
ChrX:Xq26.1		 likely benign
NM_016032.4(ZDHHC9):c.954T>C (p.Ser318=) single nucleotide variant Syndromic X-linked intellectual disability Raymond type [RCV002199519] ChrX:129810929 [GRCh38]
ChrX:128944905 [GRCh37]
ChrX:Xq26.1		 likely benign
GRCh37/hg19 Xq11.1-28(chrX:62685885-155233731) copy number loss Turner syndrome [RCV002280672] ChrX:62685885..155233731 [GRCh37]
ChrX:Xq11.1-28		 pathogenic
NM_016032.4(ZDHHC9):c.168-18A>G single nucleotide variant Syndromic X-linked intellectual disability Raymond type [RCV002139174] ChrX:129829159 [GRCh38]
ChrX:128963135 [GRCh37]
ChrX:Xq26.1		 benign
NM_016032.4(ZDHHC9):c.981C>T (p.Ala327=) single nucleotide variant Syndromic X-linked intellectual disability Raymond type [RCV002201634]|not provided [RCV003438981] ChrX:129806484 [GRCh38]
ChrX:128940460 [GRCh37]
ChrX:Xq26.1		 likely benign
NM_016032.4(ZDHHC9):c.328+16del deletion Syndromic X-linked intellectual disability Raymond type [RCV002200033] ChrX:129828965 [GRCh38]
ChrX:128962941 [GRCh37]
ChrX:Xq26.1		 likely benign
NC_000023.10:g.(?_128674417)_(128975921_?)dup duplication Lowe syndrome [RCV003109335] ChrX:128674417..128975921 [GRCh37]
ChrX:Xq25-26.1		 uncertain significance
NM_016032.4(ZDHHC9):c.1084G>C (p.Ala362Pro) single nucleotide variant Syndromic X-linked intellectual disability Raymond type [RCV003115903] ChrX:129806381 [GRCh38]
ChrX:128940357 [GRCh37]
ChrX:Xq26.1		 uncertain significance
NM_016032.4(ZDHHC9):c.495C>T (p.Phe165=) single nucleotide variant Syndromic X-linked intellectual disability Raymond type [RCV003112028] ChrX:129814788 [GRCh38]
ChrX:128948764 [GRCh37]
ChrX:Xq26.1		 likely benign
NC_000023.10:g.(?_128674417)_(129299630_?)del deletion Syndromic X-linked intellectual disability Raymond type [RCV003119698] ChrX:128674417..129299630 [GRCh37]
ChrX:Xq25-26.1		 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
NM_016032.4(ZDHHC9):c.267del (p.Ser89fs) deletion Syndromic X-linked intellectual disability Raymond type [RCV002283354] ChrX:129829042 [GRCh38]
ChrX:128963018 [GRCh37]
ChrX:Xq26.1		 pathogenic|likely pathogenic
GRCh37/hg19 Xp22.2-q28(chrX:11522765-155233731)x1 copy number loss See cases [RCV002286357] ChrX:11522765..155233731 [GRCh37]
ChrX:Xp22.2-q28		 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_016032.4(ZDHHC9):c.566T>C (p.Leu189Pro) single nucleotide variant Syndromic X-linked intellectual disability Raymond type [RCV002283602] ChrX:129814717 [GRCh38]
ChrX:128948693 [GRCh37]
ChrX:Xq26.1		 uncertain significance
GRCh37/hg19 Xq25-28(chrX:124749464-155233731)x1 copy number loss not provided [RCV002474567] ChrX:124749464..155233731 [GRCh37]
ChrX:Xq25-28		 pathogenic
NM_016032.4(ZDHHC9):c.807C>A (p.Arg269=) single nucleotide variant Syndromic X-linked intellectual disability Raymond type [RCV002681248] ChrX:129811480 [GRCh38]
ChrX:128945456 [GRCh37]
ChrX:Xq26.1		 likely benign
NM_016032.4(ZDHHC9):c.76G>A (p.Asp26Asn) single nucleotide variant Syndromic X-linked intellectual disability Raymond type [RCV002301992]|not provided [RCV003317589] ChrX:129841870 [GRCh38]
ChrX:128975846 [GRCh37]
ChrX:Xq26.1		 uncertain significance
NM_016032.4(ZDHHC9):c.*4A>G single nucleotide variant Inborn genetic diseases [RCV002401818] ChrX:129806366 [GRCh38]
ChrX:128940342 [GRCh37]
ChrX:Xq26.1		 likely benign
NM_016032.4(ZDHHC9):c.770A>G (p.Asn257Ser) single nucleotide variant Syndromic X-linked intellectual disability Raymond type [RCV002299503] ChrX:129812725 [GRCh38]
ChrX:128946701 [GRCh37]
ChrX:Xq26.1		 uncertain significance
NM_016032.4(ZDHHC9):c.952A>T (p.Ser318Cys) single nucleotide variant Syndromic X-linked intellectual disability Raymond type [RCV002296139] ChrX:129810931 [GRCh38]
ChrX:128944907 [GRCh37]
ChrX:Xq26.1		 uncertain significance
NM_016032.4(ZDHHC9):c.881+17A>G single nucleotide variant Syndromic X-linked intellectual disability Raymond type [RCV002681870] ChrX:129811389 [GRCh38]
ChrX:128945365 [GRCh37]
ChrX:Xq26.1		 likely benign
NM_016032.4(ZDHHC9):c.1032C>G (p.Pro344=) single nucleotide variant Syndromic X-linked intellectual disability Raymond type [RCV002756475] ChrX:129806433 [GRCh38]
ChrX:128940409 [GRCh37]
ChrX:Xq26.1		 likely benign
NM_016032.4(ZDHHC9):c.488-15C>G single nucleotide variant Syndromic X-linked intellectual disability Raymond type [RCV002780075] ChrX:129814810 [GRCh38]
ChrX:128948786 [GRCh37]
ChrX:Xq26.1		 benign
NM_016032.4(ZDHHC9):c.328G>A (p.Glu110Lys) single nucleotide variant Syndromic X-linked intellectual disability Raymond type [RCV002861902] ChrX:129828981 [GRCh38]
ChrX:128962957 [GRCh37]
ChrX:Xq26.1		 uncertain significance
NM_016032.4(ZDHHC9):c.516G>A (p.Val172=) single nucleotide variant Syndromic X-linked intellectual disability Raymond type [RCV002816515] ChrX:129814767 [GRCh38]
ChrX:128948743 [GRCh37]
ChrX:Xq26.1		 uncertain significance
NM_016032.4(ZDHHC9):c.978+6T>G single nucleotide variant Syndromic X-linked intellectual disability Raymond type [RCV002847001] ChrX:129810899 [GRCh38]
ChrX:128944875 [GRCh37]
ChrX:Xq26.1		 uncertain significance
NM_016032.4(ZDHHC9):c.345G>A (p.Ala115=) single nucleotide variant Syndromic X-linked intellectual disability Raymond type [RCV003053267] ChrX:129823821 [GRCh38]
ChrX:128957797 [GRCh37]
ChrX:Xq26.1		 likely benign
NM_016032.4(ZDHHC9):c.979G>C (p.Ala327Pro) single nucleotide variant not provided [RCV002510073] ChrX:129806486 [GRCh38]
ChrX:128940462 [GRCh37]
ChrX:Xq26.1		 uncertain significance
NM_016032.4(ZDHHC9):c.983C>G (p.Pro328Arg) single nucleotide variant Inborn genetic diseases [RCV002782008] ChrX:129806482 [GRCh38]
ChrX:128940458 [GRCh37]
ChrX:Xq26.1		 uncertain significance
NM_016032.4(ZDHHC9):c.718G>A (p.Val240Met) single nucleotide variant Syndromic X-linked intellectual disability Raymond type [RCV002824651]|not provided [RCV003458155] ChrX:129812777 [GRCh38]
ChrX:128946753 [GRCh37]
ChrX:Xq26.1		 uncertain significance
NM_016032.4(ZDHHC9):c.1030C>T (p.Pro344Ser) single nucleotide variant Syndromic X-linked intellectual disability Raymond type [RCV003079915] ChrX:129806435 [GRCh38]
ChrX:128940411 [GRCh37]
ChrX:Xq26.1		 likely benign
NM_016032.4(ZDHHC9):c.488-17C>G single nucleotide variant Syndromic X-linked intellectual disability Raymond type [RCV002761086] ChrX:129814812 [GRCh38]
ChrX:128948788 [GRCh37]
ChrX:Xq26.1		 likely benign
NM_016032.4(ZDHHC9):c.1021A>G (p.Ser341Gly) single nucleotide variant Syndromic X-linked intellectual disability Raymond type [RCV003023981] ChrX:129806444 [GRCh38]
ChrX:128940420 [GRCh37]
ChrX:Xq26.1		 uncertain significance
NM_016032.4(ZDHHC9):c.336C>T (p.Thr112=) single nucleotide variant Syndromic X-linked intellectual disability Raymond type [RCV002765783] ChrX:129823830 [GRCh38]
ChrX:128957806 [GRCh37]
ChrX:Xq26.1		 likely benign
NM_016032.4(ZDHHC9):c.778-15G>T single nucleotide variant Syndromic X-linked intellectual disability Raymond type [RCV002933085] ChrX:129811524 [GRCh38]
ChrX:128945500 [GRCh37]
ChrX:Xq26.1		 likely benign
NM_016032.4(ZDHHC9):c.807C>T (p.Arg269=) single nucleotide variant Syndromic X-linked intellectual disability Raymond type [RCV002928536] ChrX:129811480 [GRCh38]
ChrX:128945456 [GRCh37]
ChrX:Xq26.1		 likely benign
NM_016032.4(ZDHHC9):c.674+10G>A single nucleotide variant Syndromic X-linked intellectual disability Raymond type [RCV002711916] ChrX:129813667 [GRCh38]
ChrX:128947643 [GRCh37]
ChrX:Xq26.1		 benign
NM_016032.4(ZDHHC9):c.222G>A (p.Met74Ile) single nucleotide variant Syndromic X-linked intellectual disability Raymond type [RCV003040325] ChrX:129829087 [GRCh38]
ChrX:128963063 [GRCh37]
ChrX:Xq26.1		 uncertain significance
NM_016032.4(ZDHHC9):c.180G>A (p.Leu60=) single nucleotide variant Syndromic X-linked intellectual disability Raymond type [RCV003007570] ChrX:129829129 [GRCh38]
ChrX:128963105 [GRCh37]
ChrX:Xq26.1		 uncertain significance
NM_016032.4(ZDHHC9):c.220A>G (p.Met74Val) single nucleotide variant Syndromic X-linked intellectual disability Raymond type [RCV002666667] ChrX:129829089 [GRCh38]
ChrX:128963065 [GRCh37]
ChrX:Xq26.1		 uncertain significance
NM_016032.4(ZDHHC9):c.892C>T (p.Arg298Ter) single nucleotide variant Inborn genetic diseases [RCV002712354]|Syndromic X-linked intellectual disability Raymond type [RCV003225255] ChrX:129810991 [GRCh38]
ChrX:128944967 [GRCh37]
ChrX:Xq26.1		 pathogenic|likely pathogenic
NM_016032.4(ZDHHC9):c.361C>T (p.Arg121Ter) single nucleotide variant Syndromic X-linked intellectual disability Raymond type [RCV003047458] ChrX:129823805 [GRCh38]
ChrX:128957781 [GRCh37]
ChrX:Xq26.1		 pathogenic
NM_016032.4(ZDHHC9):c.978+7G>A single nucleotide variant Syndromic X-linked intellectual disability Raymond type [RCV002720621] ChrX:129810898 [GRCh38]
ChrX:128944874 [GRCh37]
ChrX:Xq26.1		 likely benign
NM_016032.4(ZDHHC9):c.625+14G>A single nucleotide variant Syndromic X-linked intellectual disability Raymond type [RCV002876986] ChrX:129814644 [GRCh38]
ChrX:128948620 [GRCh37]
ChrX:Xq26.1		 likely benign
NM_016032.4(ZDHHC9):c.778-11T>G single nucleotide variant Syndromic X-linked intellectual disability Raymond type [RCV002649908] ChrX:129811520 [GRCh38]
ChrX:128945496 [GRCh37]
ChrX:Xq26.1		 likely benign
NM_016032.4(ZDHHC9):c.487+19A>T single nucleotide variant Syndromic X-linked intellectual disability Raymond type [RCV003087099] ChrX:129823660 [GRCh38]
ChrX:128957636 [GRCh37]
ChrX:Xq26.1		 likely benign
NM_016032.4(ZDHHC9):c.979G>A (p.Ala327Thr) single nucleotide variant Inborn genetic diseases [RCV002722764]|Syndromic X-linked intellectual disability Raymond type [RCV003111664] ChrX:129806486 [GRCh38]
ChrX:128940462 [GRCh37]
ChrX:Xq26.1		 uncertain significance
NM_016032.4(ZDHHC9):c.1038G>A (p.Glu346=) single nucleotide variant Syndromic X-linked intellectual disability Raymond type [RCV002584442] ChrX:129806427 [GRCh38]
ChrX:128940403 [GRCh37]
ChrX:Xq26.1		 likely benign
NM_016032.4(ZDHHC9):c.806G>A (p.Arg269His) single nucleotide variant not provided [RCV003129261] ChrX:129811481 [GRCh38]
ChrX:128945457 [GRCh37]
ChrX:Xq26.1		 uncertain significance
NM_016032.4(ZDHHC9):c.266G>C (p.Ser89Thr) single nucleotide variant Syndromic X-linked intellectual disability Raymond type [RCV003049610] ChrX:129829043 [GRCh38]
ChrX:128963019 [GRCh37]
ChrX:Xq26.1		 uncertain significance
NM_016032.4(ZDHHC9):c.698T>C (p.Phe233Ser) single nucleotide variant Syndromic X-linked intellectual disability Raymond type [RCV002587911] ChrX:129812797 [GRCh38]
ChrX:128946773 [GRCh37]
ChrX:Xq26.1		 uncertain significance
NM_016032.4(ZDHHC9):c.1081G>A (p.Glu361Lys) single nucleotide variant Inborn genetic diseases [RCV003212832] ChrX:129806384 [GRCh38]
ChrX:128940360 [GRCh37]
ChrX:Xq26.1		 uncertain significance
NM_016032.4(ZDHHC9):c.754C>G (p.Leu252Val) single nucleotide variant Inborn genetic diseases [RCV003181193] ChrX:129812741 [GRCh38]
ChrX:128946717 [GRCh37]
ChrX:Xq26.1		 likely benign
NM_016032.4(ZDHHC9):c.792G>A (p.Trp264Ter) single nucleotide variant not provided [RCV003322039] ChrX:129811495 [GRCh38]
ChrX:128945471 [GRCh37]
ChrX:Xq26.1		 likely pathogenic
NM_016032.4(ZDHHC9):c.805C>T (p.Arg269Cys) single nucleotide variant Syndromic X-linked intellectual disability Raymond type [RCV003337814] ChrX:129811482 [GRCh38]
ChrX:128945458 [GRCh37]
ChrX:Xq26.1		 uncertain significance
NM_016032.4(ZDHHC9):c.531A>G (p.Gly177=) single nucleotide variant Syndromic X-linked intellectual disability Raymond type [RCV003622818] ChrX:129814752 [GRCh38]
ChrX:128948728 [GRCh37]
ChrX:Xq26.1		 likely benign
NM_016032.4(ZDHHC9):c.913G>C (p.Glu305Gln) single nucleotide variant Syndromic X-linked intellectual disability Raymond type [RCV003622997] ChrX:129810970 [GRCh38]
ChrX:128944946 [GRCh37]
ChrX:Xq26.1		 uncertain significance
NM_016032.4(ZDHHC9):c.120G>T (p.Leu40=) single nucleotide variant Syndromic X-linked intellectual disability Raymond type [RCV003623028] ChrX:129841826 [GRCh38]
ChrX:128975802 [GRCh37]
ChrX:Xq26.1		 likely benign
NM_016032.4(ZDHHC9):c.491G>A (p.Arg164His) single nucleotide variant Syndromic X-linked intellectual disability Raymond type [RCV003623069] ChrX:129814792 [GRCh38]
ChrX:128948768 [GRCh37]
ChrX:Xq26.1		 uncertain significance
NM_016032.4(ZDHHC9):c.625+10C>T single nucleotide variant Syndromic X-linked intellectual disability Raymond type [RCV003623322] ChrX:129814648 [GRCh38]
ChrX:128948624 [GRCh37]
ChrX:Xq26.1		 likely benign
NM_016032.4(ZDHHC9):c.396C>T (p.Asn132=) single nucleotide variant Syndromic X-linked intellectual disability Raymond type [RCV003623352] ChrX:129823770 [GRCh38]
ChrX:128957746 [GRCh37]
ChrX:Xq26.1		 likely benign
NM_016032.4(ZDHHC9):c.778-4G>C single nucleotide variant Syndromic X-linked intellectual disability Raymond type [RCV003623397] ChrX:129811513 [GRCh38]
ChrX:128945489 [GRCh37]
ChrX:Xq26.1		 likely benign
NM_016032.4(ZDHHC9):c.488-19C>T single nucleotide variant Syndromic X-linked intellectual disability Raymond type [RCV003623538] ChrX:129814814 [GRCh38]
ChrX:128948790 [GRCh37]
ChrX:Xq26.1		 likely benign
NM_016032.4(ZDHHC9):c.790T>C (p.Trp264Arg) single nucleotide variant Syndromic X-linked intellectual disability Raymond type [RCV003623659] ChrX:129811497 [GRCh38]
ChrX:128945473 [GRCh37]
ChrX:Xq26.1		 uncertain significance
NM_016032.4(ZDHHC9):c.329-11T>C single nucleotide variant Syndromic X-linked intellectual disability Raymond type [RCV003623775] ChrX:129823848 [GRCh38]
ChrX:128957824 [GRCh37]
ChrX:Xq26.1		 likely benign
NM_016032.4(ZDHHC9):c.23A>G (p.Lys8Arg) single nucleotide variant Syndromic X-linked intellectual disability Raymond type [RCV003622485] ChrX:129841923 [GRCh38]
ChrX:128975899 [GRCh37]
ChrX:Xq26.1		 uncertain significance
NM_016032.4(ZDHHC9):c.562A>G (p.Ile188Val) single nucleotide variant Syndromic X-linked intellectual disability Raymond type [RCV003623222] ChrX:129814721 [GRCh38]
ChrX:128948697 [GRCh37]
ChrX:Xq26.1		 uncertain significance
NM_016032.4(ZDHHC9):c.715G>A (p.Val239Ile) single nucleotide variant Syndromic X-linked intellectual disability Raymond type [RCV003622588] ChrX:129812780 [GRCh38]
ChrX:128946756 [GRCh37]
ChrX:Xq26.1		 uncertain significance
NM_016032.4(ZDHHC9):c.153C>T (p.Leu51=) single nucleotide variant Syndromic X-linked intellectual disability Raymond type [RCV003623091] ChrX:129841793 [GRCh38]
ChrX:128975769 [GRCh37]
ChrX:Xq26.1		 likely benign
NM_016032.4(ZDHHC9):c.1003A>T (p.Asn335Tyr) single nucleotide variant Syndromic X-linked intellectual disability Raymond type [RCV003622469] ChrX:129806462 [GRCh38]
ChrX:128940438 [GRCh37]
ChrX:Xq26.1		 uncertain significance
GRCh37/hg19 Xq24-28(chrX:118576752-155233731)x1 copy number loss not provided [RCV003483929] ChrX:118576752..155233731 [GRCh37]
ChrX:Xq24-28		 pathogenic
GRCh37/hg19 Xq24-28(chrX:119071609-155233731)x1 copy number loss not provided [RCV003483930] ChrX:119071609..155233731 [GRCh37]
ChrX:Xq24-28		 pathogenic
NM_016032.4(ZDHHC9):c.496G>C (p.Asp166His) single nucleotide variant Neurodevelopmental disorder [RCV003389192] ChrX:129814787 [GRCh38]
ChrX:128948763 [GRCh37]
ChrX:Xq26.1		 uncertain significance
NM_016032.4(ZDHHC9):c.565C>T (p.Leu189Phe) single nucleotide variant ZDHHC9-related condition [RCV003399997] ChrX:129814718 [GRCh38]
ChrX:128948694 [GRCh37]
ChrX:Xq26.1		 uncertain significance
NM_016032.4(ZDHHC9):c.626-16C>T single nucleotide variant Syndromic X-linked intellectual disability Raymond type [RCV003510207] ChrX:129813741 [GRCh38]
ChrX:128947717 [GRCh37]
ChrX:Xq26.1		 likely benign
NM_016032.4(ZDHHC9):c.36G>A (p.Arg12=) single nucleotide variant Syndromic X-linked intellectual disability Raymond type [RCV003510601] ChrX:129841910 [GRCh38]
ChrX:128975886 [GRCh37]
ChrX:Xq26.1		 likely benign
NM_016032.4(ZDHHC9):c.961C>T (p.Leu321Phe) single nucleotide variant Syndromic X-linked intellectual disability Raymond type [RCV003510693] ChrX:129810922 [GRCh38]
ChrX:128944898 [GRCh37]
ChrX:Xq26.1		 uncertain significance
NM_016032.4(ZDHHC9):c.487+20C>T single nucleotide variant Syndromic X-linked intellectual disability Raymond type [RCV003511138] ChrX:129823659 [GRCh38]
ChrX:128957635 [GRCh37]
ChrX:Xq26.1		 likely benign
NM_016032.4(ZDHHC9):c.197C>T (p.Pro66Leu) single nucleotide variant Syndromic X-linked intellectual disability Raymond type [RCV003509938] ChrX:129829112 [GRCh38]
ChrX:128963088 [GRCh37]
ChrX:Xq26.1		 uncertain significance
NM_016032.4(ZDHHC9):c.586A>G (p.Ile196Val) single nucleotide variant Syndromic X-linked intellectual disability Raymond type [RCV003510034] ChrX:129814697 [GRCh38]
ChrX:128948673 [GRCh37]
ChrX:Xq26.1		 uncertain significance
NM_016032.4(ZDHHC9):c.184G>A (p.Val62Ile) single nucleotide variant Syndromic X-linked intellectual disability Raymond type [RCV003510561] ChrX:129829125 [GRCh38]
ChrX:128963101 [GRCh37]
ChrX:Xq26.1		 uncertain significance
NM_016032.4(ZDHHC9):c.882-19dup duplication Syndromic X-linked intellectual disability Raymond type [RCV003832014] ChrX:129811019..129811020 [GRCh38]
ChrX:128944995..128944996 [GRCh37]
ChrX:Xq26.1		 likely benign
NM_016032.4(ZDHHC9):c.956G>A (p.Ser319Asn) single nucleotide variant Syndromic X-linked intellectual disability Raymond type [RCV003847546] ChrX:129810927 [GRCh38]
ChrX:128944903 [GRCh37]
ChrX:Xq26.1		 likely benign
NM_016032.4(ZDHHC9):c.987A>C (p.Thr329=) single nucleotide variant Syndromic X-linked intellectual disability Raymond type [RCV003622282] ChrX:129806478 [GRCh38]
ChrX:128940454 [GRCh37]
ChrX:Xq26.1		 benign
NM_016032.4(ZDHHC9):c.714C>T (p.Ser238=) single nucleotide variant Syndromic X-linked intellectual disability Raymond type [RCV003622051] ChrX:129812781 [GRCh38]
ChrX:128946757 [GRCh37]
ChrX:Xq26.1		 benign
NM_016032.4(ZDHHC9):c.487+19A>G single nucleotide variant Syndromic X-linked intellectual disability Raymond type [RCV003622065] ChrX:129823660 [GRCh38]
ChrX:128957636 [GRCh37]
ChrX:Xq26.1		 likely benign
NM_016032.4(ZDHHC9):c.621C>T (p.Ala207=) single nucleotide variant Syndromic X-linked intellectual disability Raymond type [RCV003845588] ChrX:129814662 [GRCh38]
ChrX:128948638 [GRCh37]
ChrX:Xq26.1		 benign
NM_016032.4(ZDHHC9):c.411A>G (p.Lys137=) single nucleotide variant Syndromic X-linked intellectual disability Raymond type [RCV003866982] ChrX:129823755 [GRCh38]
ChrX:128957731 [GRCh37]
ChrX:Xq26.1		 likely benign
GRCh37/hg19 Xq22.2-28(chrX:103405294-155233731) copy number loss not specified [RCV003986202] ChrX:103405294..155233731 [GRCh37]
ChrX:Xq22.2-28		 pathogenic
NM_016032.4(ZDHHC9):c.747C>T (p.Leu249=) single nucleotide variant Syndromic X-linked intellectual disability Raymond type [RCV003869567] ChrX:129812748 [GRCh38]
ChrX:128946724 [GRCh37]
ChrX:Xq26.1		 likely benign
GRCh37/hg19 Xq24-28(chrX:119395676-154930047) copy number loss not specified [RCV003986220] ChrX:119395676..154930047 [GRCh37]
ChrX:Xq24-28		 pathogenic
NM_016032.4(ZDHHC9):c.612C>T (p.Val204=) single nucleotide variant Syndromic X-linked intellectual disability Raymond type [RCV003621762] ChrX:129814671 [GRCh38]
ChrX:128948647 [GRCh37]
ChrX:Xq26.1		 likely benign
NM_016032.4(ZDHHC9):c.373C>T (p.Arg125Cys) single nucleotide variant Syndromic X-linked intellectual disability Raymond type [RCV003621966] ChrX:129823793 [GRCh38]
ChrX:128957769 [GRCh37]
ChrX:Xq26.1		 uncertain significance
NM_016032.4(ZDHHC9):c.167+1G>A single nucleotide variant Syndromic X-linked intellectual disability Raymond type [RCV003985981] ChrX:129841778 [GRCh38]
ChrX:128975754 [GRCh37]
ChrX:Xq26.1		 likely pathogenic
NM_016032.4(ZDHHC9):c.597C>T (p.Phe199=) single nucleotide variant Syndromic X-linked intellectual disability Raymond type [RCV003622161] ChrX:129814686 [GRCh38]
ChrX:128948662 [GRCh37]
ChrX:Xq26.1		 likely benign
NM_016032.4(ZDHHC9):c.885G>A (p.Val295=) single nucleotide variant not provided [RCV003887582] ChrX:129810998 [GRCh38]
ChrX:128944974 [GRCh37]
ChrX:Xq26.1		 likely benign
GRCh37/hg19 Xq25-28(chrX:125253445-155233098)x1 copy number loss See cases [RCV004442781] ChrX:125253445..155233098 [GRCh37]
ChrX:Xq25-28		 pathogenic
GRCh37/hg19 Xq12-28(chrX:67292994-155240074)x3 copy number gain not provided [RCV003885530] ChrX:67292994..155240074 [GRCh37]
ChrX:Xq12-28		 pathogenic
NM_016032.4(ZDHHC9):c.155T>C (p.Phe52Ser) single nucleotide variant Syndromic X-linked intellectual disability Raymond type [RCV003990955] ChrX:129841791 [GRCh38]
ChrX:128975767 [GRCh37]
ChrX:Xq26.1		 uncertain significance
GRCh37/hg19 Xq25-28(chrX:121656905-155233098)x1 copy number loss not provided [RCV004442761] ChrX:121656905..155233098 [GRCh37]
ChrX:Xq25-28		 pathogenic
NM_016032.4(ZDHHC9):c.1034A>C (p.Glu345Ala) single nucleotide variant Inborn genetic diseases [RCV003345824]|Syndromic X-linked intellectual disability Raymond type [RCV003621701] ChrX:129806431 [GRCh38]
ChrX:128940407 [GRCh37]
ChrX:Xq26.1		 likely benign|uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3620
Count of miRNA genes:1202
Interacting mature miRNAs:1490
Transcripts:ENST00000357166, ENST00000371064, ENST00000406492, ENST00000433917, ENST00000491039
Prediction methods:Microtar, Miranda, Pita, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

Markers in Region
STS-R49987  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X128,938,951 - 128,939,102UniSTSGRCh37
Build 36X128,766,632 - 128,766,783RGDNCBI36
CeleraX129,325,454 - 129,325,605RGD
Cytogenetic MapXq26.1UniSTS
GeneMap99-GB4 RH MapX306.65UniSTS
AL032614  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X128,962,621 - 128,962,701UniSTSGRCh37
Build 36X128,790,302 - 128,790,382RGDNCBI36
CeleraX129,349,125 - 129,349,205RGD
Cytogenetic MapXq26.1UniSTS
HuRefX118,363,810 - 118,363,889UniSTS
AL032594  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X128,949,598 - 128,949,745UniSTSGRCh37
Build 36X128,777,279 - 128,777,426RGDNCBI36
CeleraX129,336,102 - 129,336,249RGD
Cytogenetic MapXq26.1UniSTS
HuRefX118,351,032 - 118,351,179UniSTS
WI-13538  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X128,937,361 - 128,937,488UniSTSGRCh37
Build 36X128,765,042 - 128,765,169RGDNCBI36
CeleraX129,323,864 - 129,323,991RGD
Cytogenetic MapXq26.1UniSTS
HuRefX118,338,861 - 118,338,988UniSTS
GeneMap99-GB4 RH MapX304.92UniSTS
Whitehead-RH MapX282.4UniSTS
ZDHHC9  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X128,975,896 - 128,976,045UniSTSGRCh37
CeleraX129,362,400 - 129,362,549UniSTS
HuRefX118,376,743 - 118,376,892UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component
High
Medium 1865 1189 1326 575 633 418 3454 808 3028 373 1048 1560 170 1202 1888 3
Low 573 1715 397 47 1231 46 901 1385 686 45 402 50 1 2 900 1
Below cutoff 84 1 84 1 2 10 1 5 3 3

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_021387 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001008222 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_016032 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011531348 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047442151 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054327165 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054327166 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001755694 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB209807 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF151847 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK001112 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK001424 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK001524 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK096967 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL034405 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL161962 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL359542 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY358558 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY952881 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC000035 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC003128 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC006200 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC012826 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM272779 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM909699 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CD627424 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471107 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068255 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA493628 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA768650 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000357166   ⟹   ENSP00000349689
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX129,803,288 - 129,843,886 (-)Ensembl
RefSeq Acc Id: ENST00000371064   ⟹   ENSP00000360103
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX129,805,329 - 129,843,460 (-)Ensembl
RefSeq Acc Id: ENST00000406492   ⟹   ENSP00000383991
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX129,814,771 - 129,843,909 (-)Ensembl
RefSeq Acc Id: ENST00000433917   ⟹   ENSP00000406165
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX129,811,447 - 129,841,824 (-)Ensembl
RefSeq Acc Id: ENST00000491039
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX129,822,888 - 129,823,788 (-)Ensembl
RefSeq Acc Id: NM_001008222   ⟹   NP_001008223
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X129,803,288 - 129,843,599 (-)NCBI
GRCh37X128,937,264 - 128,977,910 (-)RGD
Build 36X128,766,593 - 128,805,149 (-)NCBI Archive
CeleraX129,323,767 - 129,364,414 (-)RGD
HuRefX118,338,764 - 118,378,757 (-)RGD
CHM1_1X128,848,613 - 128,888,913 (-)NCBI
T2T-CHM13v2.0X128,122,064 - 128,162,379 (-)NCBI
Sequence:
RefSeq Acc Id: NM_016032   ⟹   NP_057116
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X129,803,288 - 129,843,886 (-)NCBI
GRCh37X128,937,264 - 128,977,910 (-)RGD
Build 36X128,766,593 - 128,805,554 (-)NCBI Archive
CeleraX129,323,767 - 129,364,414 (-)RGD
HuRefX118,338,764 - 118,378,757 (-)RGD
CHM1_1X128,848,613 - 128,889,262 (-)NCBI
T2T-CHM13v2.0X128,122,064 - 128,162,666 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011531348   ⟹   XP_011529650
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X129,822,142 - 129,843,886 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047442151   ⟹   XP_047298107
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X129,812,718 - 129,843,886 (-)NCBI
RefSeq Acc Id: XM_054327165   ⟹   XP_054183140
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0X128,131,495 - 128,162,666 (-)NCBI
RefSeq Acc Id: XM_054327166   ⟹   XP_054183141
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0X128,140,918 - 128,162,666 (-)NCBI
Reference Protein Sequences
RefSeq Acc Id: NP_057116   ⟸   NM_016032
- UniProtKB: Q9NVL0 (UniProtKB/Swiss-Prot),   Q9NSP0 (UniProtKB/Swiss-Prot),   Q9BPY4 (UniProtKB/Swiss-Prot),   Q8WWS7 (UniProtKB/Swiss-Prot),   Q5JSW5 (UniProtKB/Swiss-Prot),   Q59EK4 (UniProtKB/Swiss-Prot),   D3DTF9 (UniProtKB/Swiss-Prot),   B4F6G2 (UniProtKB/Swiss-Prot),   Q9NVR6 (UniProtKB/Swiss-Prot),   Q9Y397 (UniProtKB/Swiss-Prot),   B3KM45 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001008223   ⟸   NM_001008222
- UniProtKB: Q9NVL0 (UniProtKB/Swiss-Prot),   Q9NSP0 (UniProtKB/Swiss-Prot),   Q9BPY4 (UniProtKB/Swiss-Prot),   Q8WWS7 (UniProtKB/Swiss-Prot),   Q5JSW5 (UniProtKB/Swiss-Prot),   Q59EK4 (UniProtKB/Swiss-Prot),   D3DTF9 (UniProtKB/Swiss-Prot),   B4F6G2 (UniProtKB/Swiss-Prot),   Q9NVR6 (UniProtKB/Swiss-Prot),   Q9Y397 (UniProtKB/Swiss-Prot),   B3KM45 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011529650   ⟸   XM_011531348
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: ENSP00000360103   ⟸   ENST00000371064
RefSeq Acc Id: ENSP00000383991   ⟸   ENST00000406492
RefSeq Acc Id: ENSP00000406165   ⟸   ENST00000433917
RefSeq Acc Id: ENSP00000349689   ⟸   ENST00000357166
RefSeq Acc Id: XP_047298107   ⟸   XM_047442151
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054183140   ⟸   XM_054327165
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054183141   ⟸   XM_054327166
- Peptide Label: isoform X2
Protein Domains
DHHC   Palmitoyltransferase DHHC

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9Y397-F1-model_v2 AlphaFold Q9Y397 1-364 view protein structure

Promoters
RGD ID:6809421
Promoter ID:HG_KWN:68017
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000341406,   ENST00000357166,   NM_001008222,   NM_016032,   OTTHUMT00000058216,   UC004EUX.1,   UC004EUY.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36X128,805,236 - 128,805,736 (-)MPROMDB
RGD ID:6851044
Promoter ID:EP73319
Type:multiple initiation site
Name:HS_ZDHHC9
Description:Zinc finger, DHHC domain containing 9.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:NEDO full length human cDNA sequencing project.; Oligo-capping
Position:
Human AssemblyChrPosition (strand)Source
Build 36X128,805,541 - 128,805,601EPD
RGD ID:13628068
Promoter ID:EPDNEW_H29309
Type:initiation region
Name:ZDHHC9_2
Description:zinc finger DHHC-type containing 9
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H29310  EPDNEW_H29311  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X129,843,397 - 129,843,457EPDNEW
RGD ID:13628070
Promoter ID:EPDNEW_H29310
Type:initiation region
Name:ZDHHC9_1
Description:zinc finger DHHC-type containing 9
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H29309  EPDNEW_H29311  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X129,843,886 - 129,843,946EPDNEW
RGD ID:13628072
Promoter ID:EPDNEW_H29311
Type:initiation region
Name:ZDHHC9_3
Description:zinc finger DHHC-type containing 9
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H29309  EPDNEW_H29310  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X129,844,265 - 129,844,325EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:18475 AgrOrtholog
COSMIC ZDHHC9 COSMIC
Ensembl Genes ENSG00000188706 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000357166 ENTREZGENE
  ENST00000357166.11 UniProtKB/Swiss-Prot
  ENST00000371064 ENTREZGENE
  ENST00000371064.7 UniProtKB/Swiss-Prot
  ENST00000406492.2 UniProtKB/TrEMBL
  ENST00000433917.5 UniProtKB/TrEMBL
GTEx ENSG00000188706 GTEx
HGNC ID HGNC:18475 ENTREZGENE
Human Proteome Map ZDHHC9 Human Proteome Map
InterPro Palmitoyltrfase_DHHC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:51114 UniProtKB/Swiss-Prot
NCBI Gene 51114 ENTREZGENE
OMIM 300646 OMIM
PANTHER PTHR22883:SF71 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ZINC FINGER DHHC DOMAIN CONTAINING PROTEIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam DHHC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA38340 PharmGKB
PROSITE DHHC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt B3KM45 ENTREZGENE, UniProtKB/TrEMBL
  B4F6G2 ENTREZGENE
  D3DTF9 ENTREZGENE
  H0Y6K6_HUMAN UniProtKB/TrEMBL
  Q59EK4 ENTREZGENE
  Q5JSW5 ENTREZGENE
  Q5JYE8_HUMAN UniProtKB/TrEMBL
  Q8WWS7 ENTREZGENE
  Q9BPY4 ENTREZGENE
  Q9NSP0 ENTREZGENE
  Q9NVL0 ENTREZGENE
  Q9NVR6 ENTREZGENE
  Q9Y397 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary B4F6G2 UniProtKB/Swiss-Prot
  D3DTF9 UniProtKB/Swiss-Prot
  Q59EK4 UniProtKB/Swiss-Prot
  Q5JSW5 UniProtKB/Swiss-Prot
  Q8WWS7 UniProtKB/Swiss-Prot
  Q9BPY4 UniProtKB/Swiss-Prot
  Q9NSP0 UniProtKB/Swiss-Prot
  Q9NVL0 UniProtKB/Swiss-Prot
  Q9NVR6 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2019-10-22 ZDHHC9  zinc finger DHHC-type palmitoyltransferase 9  ZDHHC9  zinc finger DHHC-type containing 9  Symbol and/or name change 5135510 APPROVED
2016-02-26 ZDHHC9  zinc finger DHHC-type containing 9  ZDHHC10  zinc finger, DHHC domain containing 10  Data merged from RGD:1351702 737654 PROVISIONAL
2016-02-18 ZDHHC9  zinc finger DHHC-type containing 9    zinc finger, DHHC-type containing 9  Symbol and/or name change 5135510 APPROVED