DSG4 (desmoglein 4) - Rat Genome Database

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Gene: DSG4 (desmoglein 4) Homo sapiens
Analyze
Symbol: DSG4
Name: desmoglein 4
RGD ID: 1348036
HGNC Page HGNC:21307
Description: Predicted to enable calcium ion binding activity. Predicted to be involved in cell-cell adhesion. Predicted to act upstream of or within BMP signaling pathway; hair follicle development; and keratinocyte differentiation. Predicted to be located in cornified envelope. Predicted to be active in desmosome. Implicated in hypotrichosis and hypotrichosis 6.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: cadherin family member 13; CDGF13; CDH family member 13; CDHF13; desmoglein-4; HYPT6; LAH
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
GRCh381831,376,777 - 31,414,909 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1831,376,777 - 31,414,912 (+)EnsemblGRCh38hg38GRCh38
GRCh371828,956,740 - 28,994,872 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361827,210,738 - 27,247,877 (+)NCBINCBI36Build 36hg18NCBI36
Build 341827,210,737 - 27,247,877NCBI
Celera1825,763,866 - 25,801,005 (+)NCBICelera
Cytogenetic Map18q12.1NCBI
HuRef1825,812,756 - 25,849,925 (+)NCBIHuRef
CHM1_11828,884,023 - 28,921,163 (+)NCBICHM1_1
T2T-CHM13v2.01831,567,308 - 31,605,438 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


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

Biological Process

Cellular Component
anchoring junction  (IEA)
cornified envelope  (IEA,TAS)
desmosome  (IBA,IEA)
membrane  (IEA)
plasma membrane  (IEA,TAS)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. Intragenic deletion in the Desmoglein 4 gene underlies the skin phenotype in the Iffa Credo "hairless" rat. Bazzi H, etal., Differentiation. 2004 Oct;72(8):450-64. doi: 10.1111/j.1432-0436.2004.07208010.x.
2. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
3. The lanceolate hair rat phenotype results from a missense mutation in a calcium coordinating site of the desmoglein 4 gene. Jahoda CA, etal., Genomics 2004 May;83(5):747-56.
4. A spontaneous mutation in the desmoglein 4 gene underlies hypotrichosis in a new lanceolate hair rat model. Meyer B, etal., Differentiation. 2004 Dec;72(9-10):541-7. doi: 10.1111/j.1432-0436.2004.07209007.x.
5. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
6. A recurrent intragenic deletion mutation in DSG4 gene in three Pakistani families with autosomal recessive hypotrichosis. Rafiq MA, etal., J Invest Dermatol. 2004 Jul;123(1):247-8.
7. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
8. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
9. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:12477932   PMID:12648213   PMID:12705872   PMID:15304105   PMID:15489334   PMID:15545999   PMID:16297213   PMID:16382669   PMID:16433681   PMID:16439973   PMID:16533311   PMID:16543896  
PMID:16575393   PMID:17294735   PMID:17392831   PMID:19553310   PMID:19683850   PMID:21495994   PMID:21873635   PMID:22189787   PMID:23015706   PMID:25251037   PMID:25615553   PMID:25798074  
PMID:26173648   PMID:26186194   PMID:28514442   PMID:29228324   PMID:29509190   PMID:29796690   PMID:30532072   PMID:31182584   PMID:33961781   PMID:33995349   PMID:35146972   PMID:35271311  
PMID:35864588  


Genomics

Comparative Map Data
DSG4
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381831,376,777 - 31,414,909 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1831,376,777 - 31,414,912 (+)EnsemblGRCh38hg38GRCh38
GRCh371828,956,740 - 28,994,872 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361827,210,738 - 27,247,877 (+)NCBINCBI36Build 36hg18NCBI36
Build 341827,210,737 - 27,247,877NCBI
Celera1825,763,866 - 25,801,005 (+)NCBICelera
Cytogenetic Map18q12.1NCBI
HuRef1825,812,756 - 25,849,925 (+)NCBIHuRef
CHM1_11828,884,023 - 28,921,163 (+)NCBICHM1_1
T2T-CHM13v2.01831,567,308 - 31,605,438 (+)NCBIT2T-CHM13v2.0
Dsg4
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391820,569,234 - 20,606,191 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1820,569,232 - 20,604,878 (+)EnsemblGRCm39 Ensembl
GRCm381820,436,175 - 20,471,821 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1820,436,175 - 20,471,821 (+)EnsemblGRCm38mm10GRCm38
MGSCv371820,594,676 - 20,630,322 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361820,579,185 - 20,614,831 (+)NCBIMGSCv36mm8
Celera1820,940,658 - 20,976,720 (+)NCBICelera
Cytogenetic Map18A2NCBI
cM Map1811.35NCBI
Dsg4
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81811,995,902 - 12,032,908 (+)NCBIGRCr8
mRatBN7.21811,720,844 - 11,757,927 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1811,720,975 - 11,756,234 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1811,922,992 - 11,958,017 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01812,710,645 - 12,745,680 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01811,982,280 - 12,017,306 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01812,056,113 - 12,092,858 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1812,056,113 - 12,092,858 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01811,853,980 - 11,888,828 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41812,173,507 - 12,209,833 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11812,200,152 - 12,236,479 (+)NCBI
Celera1811,736,765 - 11,771,810 (+)NCBICelera
Cytogenetic Map18p12NCBI
Dsg4
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495540218,715,893 - 18,753,028 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495540218,724,959 - 18,754,232 (+)NCBIChiLan1.0ChiLan1.0
DSG4
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21748,769,668 - 48,807,807 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11834,462,264 - 34,500,403 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01824,595,021 - 24,633,182 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11828,192,145 - 28,230,358 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1828,192,145 - 28,230,358 (+)Ensemblpanpan1.1panPan2
DSG4
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1758,101,294 - 58,135,376 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha757,536,708 - 57,572,413 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0758,084,931 - 58,120,641 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl758,087,374 - 58,128,806 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1757,761,254 - 57,796,970 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0757,787,371 - 57,823,079 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0758,076,538 - 58,112,235 (-)NCBIUU_Cfam_GSD_1.0
Dsg4
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494453,801,958 - 53,827,629 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049366821,803,862 - 1,841,396 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049366821,803,862 - 1,829,352 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
DSG4
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl6115,289,859 - 115,325,854 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.16115,288,606 - 115,325,322 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.26107,917,621 - 107,952,873 (+)NCBISscrofa10.2Sscrofa10.2susScr3
DSG4
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11849,316,206 - 49,343,929 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1849,317,150 - 49,353,635 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605023,961,606 - 23,998,838 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Dsg4
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247701,457,016 - 1,495,009 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247701,456,988 - 1,491,069 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in DSG4
260 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_177986.5(DSG4):c.373-32_1005+292del deletion Hypotrichosis 6 [RCV000002838] Chr18:31388839..31392629 [GRCh38]
Chr18:28968802..28972592 [GRCh37]
Chr18:18q12.1		 pathogenic
NM_177986.5(DSG4):c.87del (p.Lys30fs) deletion Hypotrichosis 6 [RCV000002839] Chr18:31386690 [GRCh38]
Chr18:28966653 [GRCh37]
Chr18:18q12.1		 pathogenic|likely pathogenic
NM_177986.5(DSG4):c.574T>C (p.Ser192Pro) single nucleotide variant Hypotrichosis 6 [RCV000002840] Chr18:31390712 [GRCh38]
Chr18:28970675 [GRCh37]
Chr18:18q12.1		 pathogenic
NM_177986.5(DSG4):c.2038dup (p.Ser680fs) duplication Hypotrichosis 6 [RCV000002841] Chr18:31409555..31409556 [GRCh38]
Chr18:28989518..28989519 [GRCh37]
Chr18:18q12.1		 pathogenic
NM_177986.5(DSG4):c.216+1G>T single nucleotide variant Hypotrichosis 6 [RCV000002842] Chr18:31386820 [GRCh38]
Chr18:28966783 [GRCh37]
Chr18:18q12.1		 pathogenic
NM_177986.5(DSG4):c.800C>G (p.Pro267Arg) single nucleotide variant Hypotrichosis 6 [RCV000002843] Chr18:31391193 [GRCh38]
Chr18:28971156 [GRCh37]
Chr18:18q12.1		 pathogenic
NM_177986.5(DSG4):c.763del (p.Cys255fs) deletion Hypotrichosis 6 [RCV000002844] Chr18:31391156 [GRCh38]
Chr18:28971119 [GRCh37]
Chr18:18q12.1		 pathogenic
NM_177986.5(DSG4):c.865C>T (p.Arg289Ter) single nucleotide variant Hypotrichosis 6 [RCV000002845] Chr18:31392200 [GRCh38]
Chr18:28972163 [GRCh37]
Chr18:18q12.1		 pathogenic
NM_177986.5(DSG4):c.1168_1172dup (p.Phe392fs) duplication Hypotrichosis 6 [RCV001781003] Chr18:31399433..31399434 [GRCh38]
Chr18:28979396..28979397 [GRCh37]
Chr18:18q12.1		 pathogenic|likely pathogenic
GRCh38/hg38 18q12.1-12.3(chr18:29444510-40403652)x1 copy number loss See cases [RCV000051090] Chr18:29444510..40403652 [GRCh38]
Chr18:27024475..37983616 [GRCh37]
Chr18:25278473..36237614 [NCBI36]
Chr18:18q12.1-12.3		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3 copy number gain See cases [RCV000051048] Chr18:148963..80252149 [GRCh38]
Chr18:148963..78010032 [GRCh37]
Chr18:138963..76111023 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18q11.1-23(chr18:20960320-80234429)x3 copy number gain See cases [RCV000052543] Chr18:20960320..80234429 [GRCh38]
Chr18:18540281..77992312 [GRCh37]
Chr18:16794279..76093303 [NCBI36]
Chr18:18q11.1-23		 pathogenic
GRCh38/hg38 18q11.1-23(chr18:20989762-80209986)x3 copy number gain See cases [RCV000052549] Chr18:20989762..80209986 [GRCh38]
Chr18:18569723..77967869 [GRCh37]
Chr18:16823721..76068860 [NCBI36]
Chr18:18q11.1-23		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:53345-80209986)x3 copy number gain See cases [RCV000052501] Chr18:53345..80209986 [GRCh38]
Chr18:53345..77967869 [GRCh37]
Chr18:43345..76068860 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:148763-80252290)x3 copy number gain See cases [RCV000052507] Chr18:148763..80252290 [GRCh38]
Chr18:148763..78010173 [GRCh37]
Chr18:138763..76111164 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18q12.1-22.1(chr18:29249202-65448117)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052563]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052563]|See cases [RCV000052563] Chr18:29249202..65448117 [GRCh38]
Chr18:26829167..63115353 [GRCh37]
Chr18:25083165..61266333 [NCBI36]
Chr18:18q12.1-22.1		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:148963-80244381)x3 copy number gain See cases [RCV000052514] Chr18:148963..80244381 [GRCh38]
Chr18:148963..78002264 [GRCh37]
Chr18:138963..76103255 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18q12.1(chr18:29879161-31727247)x3 copy number gain See cases [RCV000054082] Chr18:29879161..31727247 [GRCh38]
Chr18:27459126..29307210 [GRCh37]
Chr18:25713124..27561208 [NCBI36]
Chr18:18q12.1		 uncertain significance
NM_177986.3(DSG4):c.967G>A (p.Asp323Asn) single nucleotide variant Malignant melanoma [RCV000071797] Chr18:31392302 [GRCh38]
Chr18:28972265 [GRCh37]
Chr18:27226263 [NCBI36]
Chr18:18q12.1		 not provided
NM_177986.3(DSG4):c.2227G>A (p.Gly743Ser) single nucleotide variant Malignant melanoma [RCV000071798] Chr18:31411320 [GRCh38]
Chr18:28991283 [GRCh37]
Chr18:27245281 [NCBI36]
Chr18:18q12.1		 not provided
NM_177986.3(DSG4):c.2234T>G (p.Met745Arg) single nucleotide variant Malignant melanoma [RCV000071799] Chr18:31411327 [GRCh38]
Chr18:28991290 [GRCh37]
Chr18:27245288 [NCBI36]
Chr18:18q12.1		 not provided
NM_177986.3(DSG4):c.3004C>T (p.Gln1002Ter) single nucleotide variant Malignant melanoma [RCV000071800] Chr18:31413476 [GRCh38]
Chr18:28993439 [GRCh37]
Chr18:27247437 [NCBI36]
Chr18:18q12.1		 not provided
GRCh38/hg38 18p11.32-q23(chr18:149089-80234391)x3 copy number gain See cases [RCV000134110] Chr18:149089..80234391 [GRCh38]
Chr18:149089..77992274 [GRCh37]
Chr18:139089..76093265 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:118760-80254946)x3 copy number gain See cases [RCV000138656] Chr18:118760..80254946 [GRCh38]
Chr18:118760..78012829 [GRCh37]
Chr18:108760..76113817 [NCBI36]
Chr18:18p11.32-q23		 pathogenic|conflicting data from submitters
GRCh38/hg38 18p11.32-q23(chr18:149089-80254936)x3 copy number gain See cases [RCV000139397] Chr18:149089..80254936 [GRCh38]
Chr18:149089..78012819 [GRCh37]
Chr18:139089..76113807 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18q12.1(chr18:31318837-31586401)x3 copy number gain See cases [RCV000139167] Chr18:31318837..31586401 [GRCh38]
Chr18:28898800..29166364 [GRCh37]
Chr18:27152798..27420362 [NCBI36]
Chr18:18q12.1		 likely benign
GRCh38/hg38 18q12.1(chr18:31392177-31439972)x1 copy number loss See cases [RCV000141096] Chr18:31392177..31439972 [GRCh38]
Chr18:28972140..29019935 [GRCh37]
Chr18:27226138..27273933 [NCBI36]
Chr18:18q12.1		 benign
GRCh38/hg38 18q12.1(chr18:31173251-31677694)x3 copy number gain See cases [RCV000140924] Chr18:31173251..31677694 [GRCh38]
Chr18:28753214..29257657 [GRCh37]
Chr18:27007212..27511655 [NCBI36]
Chr18:18q12.1		 uncertain significance
GRCh38/hg38 18q11.1-12.1(chr18:20949378-34363455)x3 copy number gain See cases [RCV000141646] Chr18:20949378..34363455 [GRCh38]
Chr18:18529339..31943419 [GRCh37]
Chr18:16783337..30197417 [NCBI36]
Chr18:18q11.1-12.1		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:136227-80256240)x3 copy number gain See cases [RCV000142244] Chr18:136227..80256240 [GRCh38]
Chr18:136227..78014123 [GRCh37]
Chr18:126227..76115097 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18q11.1-12.3(chr18:20941324-40360620)x3 copy number gain See cases [RCV000142226] Chr18:20941324..40360620 [GRCh38]
Chr18:18521285..37940584 [GRCh37]
Chr18:16775283..36194582 [NCBI36]
Chr18:18q11.1-12.3		 pathogenic
GRCh38/hg38 18q11.1-22.3(chr18:20962119-74691446)x3 copy number gain See cases [RCV000143057] Chr18:20962119..74691446 [GRCh38]
Chr18:18542080..72403402 [GRCh37]
Chr18:16796078..70532390 [NCBI36]
Chr18:18q11.1-22.3		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:136226-80256240)x3 copy number gain See cases [RCV000143218] Chr18:136226..80256240 [GRCh38]
Chr18:136226..78014123 [GRCh37]
Chr18:126226..76115097 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3 copy number gain See cases [RCV000148072] Chr18:148963..80252149 [GRCh38]
Chr18:148963..78010032 [GRCh37]
Chr18:138963..76111023 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh37/hg19 18p11.32-q23(chr18:163323-78005236)x3 copy number gain See cases [RCV000240130] Chr18:163323..78005236 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
NM_177986.5(DSG4):c.1568C>T (p.Pro523Leu) single nucleotide variant Hypotrichosis 6 [RCV000339262]|not provided [RCV000224321] Chr18:31403566 [GRCh38]
Chr18:28983529 [GRCh37]
Chr18:18q12.1		 benign|likely benign|uncertain significance
GRCh37/hg19 18q11.1-23(chr18:18548019-77954165)x3 copy number gain See cases [RCV000240476] Chr18:18548019..77954165 [GRCh37]
Chr18:18q11.1-23		 pathogenic
NM_177986.5(DSG4):c.1487A>G (p.Asn496Ser) single nucleotide variant Hypotrichosis 6 [RCV000284475]|not provided [RCV002521145] Chr18:31403485 [GRCh38]
Chr18:28983448 [GRCh37]
Chr18:18q12.1		 benign|likely benign|uncertain significance
NM_177986.5(DSG4):c.2945C>T (p.Thr982Met) single nucleotide variant Hypotrichosis 6 [RCV000289277] Chr18:31413417 [GRCh38]
Chr18:28993380 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_177986.5(DSG4):c.919T>G (p.Tyr307Asp) single nucleotide variant Hypotrichosis 6 [RCV000272962]|Inborn genetic diseases [RCV004021726] Chr18:31392254 [GRCh38]
Chr18:28972217 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_177986.5(DSG4):c.3066C>A (p.Pro1022=) single nucleotide variant Hypotrichosis 6 [RCV000290890]|not provided [RCV001690083] Chr18:31413538 [GRCh38]
Chr18:28993501 [GRCh37]
Chr18:18q12.1		 benign
NM_177986.5(DSG4):c.955G>A (p.Asp319Asn) single nucleotide variant Hypotrichosis 6 [RCV000274042]|not provided [RCV002521143] Chr18:31392290 [GRCh38]
Chr18:28972253 [GRCh37]
Chr18:18q12.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_177986.5(DSG4):c.-16A>G single nucleotide variant Hypotrichosis 6 [RCV000294204] Chr18:31376896 [GRCh38]
Chr18:28956859 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_177986.5(DSG4):c.1316T>C (p.Ile439Thr) single nucleotide variant Hypotrichosis 6 [RCV000259689]|not provided [RCV000957732] Chr18:31400919 [GRCh38]
Chr18:28980882 [GRCh37]
Chr18:18q12.1		 benign|likely benign|uncertain significance
NM_177986.5(DSG4):c.1384G>A (p.Gly462Arg) single nucleotide variant Hypotrichosis 6 [RCV000319529] Chr18:31400987 [GRCh38]
Chr18:28980950 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_177986.5(DSG4):c.-66G>A single nucleotide variant Hypotrichosis 6 [RCV000269698] Chr18:31376846 [GRCh38]
Chr18:28956809 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_177986.5(DSG4):c.715G>A (p.Gly239Ser) single nucleotide variant Hypotrichosis 6 [RCV000307735] Chr18:31391108 [GRCh38]
Chr18:28971071 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_177986.5(DSG4):c.3020T>C (p.Met1007Thr) single nucleotide variant Hypotrichosis 6 [RCV000344664]|not provided [RCV002521148] Chr18:31413492 [GRCh38]
Chr18:28993455 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_177986.5(DSG4):c.2019C>T (p.Gly673=) single nucleotide variant DSG4-related disorder [RCV003957668]|Hypotrichosis 6 [RCV000391921]|not provided [RCV000886050] Chr18:31409537 [GRCh38]
Chr18:28989500 [GRCh37]
Chr18:18q12.1		 likely benign|uncertain significance
NM_177986.5(DSG4):c.259A>C (p.Ile87Leu) single nucleotide variant Hypotrichosis 6 [RCV000281588] Chr18:31388409 [GRCh38]
Chr18:28968372 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_177986.5(DSG4):c.2166G>A (p.Gly722=) single nucleotide variant Hypotrichosis 6 [RCV000311102]|not provided [RCV000948460] Chr18:31411259 [GRCh38]
Chr18:28991222 [GRCh37]
Chr18:18q12.1		 benign|uncertain significance
NM_177986.5(DSG4):c.590A>G (p.Lys197Arg) single nucleotide variant Hypotrichosis 6 [RCV000361209] Chr18:31390728 [GRCh38]
Chr18:28970691 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_177986.5(DSG4):c.2015A>G (p.Glu672Gly) single nucleotide variant Hypotrichosis 6 [RCV000345916] Chr18:31409533 [GRCh38]
Chr18:28989496 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_177986.5(DSG4):c.2293A>G (p.Thr765Ala) single nucleotide variant Hypotrichosis 6 [RCV000275911]|not provided [RCV000957733] Chr18:31411386 [GRCh38]
Chr18:28991349 [GRCh37]
Chr18:18q12.1		 benign|likely benign
NM_177986.5(DSG4):c.495C>T (p.Ser165=) single nucleotide variant Hypotrichosis 6 [RCV000398270]|not provided [RCV001690082] Chr18:31388996 [GRCh38]
Chr18:28968959 [GRCh37]
Chr18:18q12.1		 benign
NM_177986.5(DSG4):c.*31C>T single nucleotide variant Hypotrichosis 6 [RCV000399222]|not provided [RCV001643016] Chr18:31413626 [GRCh38]
Chr18:28993589 [GRCh37]
Chr18:18q12.1		 benign|likely benign
NM_177986.5(DSG4):c.3069G>A (p.Met1023Ile) single nucleotide variant Hypotrichosis 6 [RCV000350560]|not provided [RCV000957734] Chr18:31413541 [GRCh38]
Chr18:28993504 [GRCh37]
Chr18:18q12.1		 benign|likely benign
NM_177986.5(DSG4):c.1480T>C (p.Cys494Arg) single nucleotide variant DSG4-related disorder [RCV003912366]|Hypotrichosis 6 [RCV000374293]|not provided [RCV000890179] Chr18:31403478 [GRCh38]
Chr18:28983441 [GRCh37]
Chr18:18q12.1		 likely benign|uncertain significance
NM_177986.5(DSG4):c.-101T>A single nucleotide variant Hypotrichosis 6 [RCV000323187] Chr18:31376811 [GRCh38]
Chr18:28956774 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_177986.5(DSG4):c.2777A>G (p.Asp926Gly) single nucleotide variant DSG4-related disorder [RCV003910251]|Hypotrichosis 6 [RCV000324497]|not provided [RCV000888715] Chr18:31413249 [GRCh38]
Chr18:28993212 [GRCh37]
Chr18:18q12.1		 likely benign|uncertain significance
NM_177986.5(DSG4):c.2735G>A (p.Gly912Asp) single nucleotide variant Hypotrichosis 6 [RCV000377940] Chr18:31413207 [GRCh38]
Chr18:28993170 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_177986.5(DSG4):c.-10A>G single nucleotide variant DSG4-related disorder [RCV003957667]|Hypotrichosis 6 [RCV000330537] Chr18:31376902 [GRCh38]
Chr18:28956865 [GRCh37]
Chr18:18q12.1		 likely benign|uncertain significance
NM_177986.5(DSG4):c.1636+12G>A single nucleotide variant Hypotrichosis 6 [RCV000285601]|not provided [RCV002521146] Chr18:31403646 [GRCh38]
Chr18:28983609 [GRCh37]
Chr18:18q12.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_177986.5(DSG4):c.920A>G (p.Tyr307Cys) single nucleotide variant Hypotrichosis 6 [RCV000328006] Chr18:31392255 [GRCh38]
Chr18:28972218 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_177986.5(DSG4):c.1930A>C (p.Ile644Leu) single nucleotide variant Hypotrichosis 6 [RCV000309846]|not provided [RCV001660674] Chr18:31406370 [GRCh38]
Chr18:28986333 [GRCh37]
Chr18:18q12.1		 benign
NM_177986.5(DSG4):c.2560C>T (p.Pro854Ser) single nucleotide variant Hypotrichosis 6 [RCV000353766] Chr18:31413032 [GRCh38]
Chr18:28992995 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_177986.5(DSG4):c.2796T>G (p.Asn932Lys) single nucleotide variant Hypotrichosis 6 [RCV000378963]|not provided [RCV001618576] Chr18:31413268 [GRCh38]
Chr18:28993231 [GRCh37]
Chr18:18q12.1		 benign|likely benign
NM_177986.5(DSG4):c.-52G>A single nucleotide variant Hypotrichosis 6 [RCV000329544] Chr18:31376860 [GRCh38]
Chr18:28956823 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_177986.5(DSG4):c.-43A>G single nucleotide variant Hypotrichosis 6 [RCV000384091] Chr18:31376869 [GRCh38]
Chr18:28956832 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_177986.5(DSG4):c.1604T>C (p.Ile535Thr) single nucleotide variant Hypotrichosis 6 [RCV000379849]|not provided [RCV000962580] Chr18:31403602 [GRCh38]
Chr18:28983565 [GRCh37]
Chr18:18q12.1		 benign|likely benign
NM_177986.5(DSG4):c.1158T>A (p.His386Gln) single nucleotide variant Hypotrichosis 6 [RCV000388235]|Inborn genetic diseases [RCV002521144] Chr18:31399424 [GRCh38]
Chr18:28979387 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_177986.5(DSG4):c.1137G>T (p.Val379=) single nucleotide variant Hypotrichosis 6 [RCV000333702]|not provided [RCV000975802] Chr18:31399403 [GRCh38]
Chr18:28979366 [GRCh37]
Chr18:18q12.1		 likely benign|uncertain significance
NM_177986.5(DSG4):c.417G>C (p.Arg139Ser) single nucleotide variant Hypotrichosis 6 [RCV000336655]|Inborn genetic diseases [RCV003168485]|not provided [RCV002521142] Chr18:31388918 [GRCh38]
Chr18:28968881 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_177986.5(DSG4):c.176G>A (p.Arg59Gln) single nucleotide variant Hypotrichosis 6 [RCV000335561]|Inborn genetic diseases [RCV002521141] Chr18:31386779 [GRCh38]
Chr18:28966742 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_177986.5(DSG4):c.30C>T (p.Cys10=) single nucleotide variant Hypotrichosis 6 [RCV000295565]|not provided [RCV001672544] Chr18:31376941 [GRCh38]
Chr18:28956904 [GRCh37]
Chr18:18q12.1		 benign|likely benign
NM_177986.5(DSG4):c.3023G>A (p.Ser1008Asn) single nucleotide variant DSG4-related disorder [RCV003922391]|Hypotrichosis 6 [RCV000385158]|Inborn genetic diseases [RCV004021728]|not provided [RCV000913431] Chr18:31413495 [GRCh38]
Chr18:28993458 [GRCh37]
Chr18:18q12.1		 likely benign|uncertain significance
NM_177986.5(DSG4):c.2442C>T (p.Pro814=) single nucleotide variant Hypotrichosis 6 [RCV000298269]|not provided [RCV000971429] Chr18:31412914 [GRCh38]
Chr18:28992877 [GRCh37]
Chr18:18q12.1		 benign|likely benign|uncertain significance
NM_177986.5(DSG4):c.258G>A (p.Arg86=) single nucleotide variant Hypotrichosis 6 [RCV000398447]|not provided [RCV001711940] Chr18:31388408 [GRCh38]
Chr18:28968371 [GRCh37]
Chr18:18q12.1		 benign
NM_177986.5(DSG4):c.*303G>A single nucleotide variant Hypotrichosis 6 [RCV000315503] Chr18:31413898 [GRCh38]
Chr18:28993861 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_177986.5(DSG4):c.2731T>C (p.Tyr911His) single nucleotide variant Hypotrichosis 6 [RCV000263534]|Inborn genetic diseases [RCV002521147] Chr18:31413203 [GRCh38]
Chr18:28993166 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_177986.5(DSG4):c.1725A>G (p.Ala575=) single nucleotide variant Hypotrichosis 6 [RCV000345194] Chr18:31406165 [GRCh38]
Chr18:28986128 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_177986.5(DSG4):c.1740A>G (p.Gln580=) single nucleotide variant DSG4-related disorder [RCV003969929]|Hypotrichosis 6 [RCV000402153]|not provided [RCV000962581] Chr18:31406180 [GRCh38]
Chr18:28986143 [GRCh37]
Chr18:18q12.1		 likely benign|uncertain significance
NM_177986.5(DSG4):c.855G>A (p.Ser285=) single nucleotide variant DSG4-related disorder [RCV003912365]|Hypotrichosis 6 [RCV000362451]|not provided [RCV000959480] Chr18:31392190 [GRCh38]
Chr18:28972153 [GRCh37]
Chr18:18q12.1		 benign|likely benign|uncertain significance
NM_177986.5(DSG4):c.2748A>G (p.Pro916=) single nucleotide variant Hypotrichosis 6 [RCV000264608]|not provided [RCV001653590] Chr18:31413220 [GRCh38]
Chr18:28993183 [GRCh37]
Chr18:18q12.1		 benign
NM_177986.5(DSG4):c.587A>G (p.Tyr196Cys) single nucleotide variant Hypotrichosis 6 [RCV000301682] Chr18:31390725 [GRCh38]
Chr18:28970688 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_177986.5(DSG4):c.628A>T (p.Ile210Phe) single nucleotide variant Hypotrichosis 6 [RCV000406685] Chr18:31390766 [GRCh38]
Chr18:28970729 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_177986.5(DSG4):c.2734G>A (p.Gly912Ser) single nucleotide variant Hypotrichosis 6 [RCV000318708]|Inborn genetic diseases [RCV004021727] Chr18:31413206 [GRCh38]
Chr18:28993169 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_177986.5(DSG4):c.21A>G (p.Arg7=) single nucleotide variant DSG4-related disorder [RCV003912364]|Hypotrichosis 6 [RCV000389761]|not provided [RCV000959479] Chr18:31376932 [GRCh38]
Chr18:28956895 [GRCh37]
Chr18:18q12.1		 benign|likely benign|uncertain significance
NM_177986.5(DSG4):c.-88A>G single nucleotide variant Hypotrichosis 6 [RCV000364339] Chr18:31376824 [GRCh38]
Chr18:28956787 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_177986.5(DSG4):c.928C>A (p.Leu310Ile) single nucleotide variant Hypotrichosis 6 [RCV000368636] Chr18:31392263 [GRCh38]
Chr18:28972226 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_177986.5(DSG4):c.2276G>C (p.Arg759Thr) single nucleotide variant Hypotrichosis 6 [RCV000370387] Chr18:31411369 [GRCh38]
Chr18:28991332 [GRCh37]
Chr18:18q12.1		 uncertain significance
GRCh37/hg19 18p11.32-q23(chr18:136226-78014123)x3 copy number gain See cases [RCV000446047] Chr18:136226..78014123 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
GRCh37/hg19 18p11.32-q23(chr18:163323-78005185)x3 copy number gain See cases [RCV000445851] Chr18:163323..78005185 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
GRCh37/hg19 18q11.2-12.2(chr18:20069932-36887326)x1 copy number loss See cases [RCV000510691] Chr18:20069932..36887326 [GRCh37]
Chr18:18q11.2-12.2		 pathogenic
GRCh37/hg19 18q11.1-22.1(chr18:18521285-64495798)x3 copy number gain See cases [RCV000511734] Chr18:18521285..64495798 [GRCh37]
Chr18:18q11.1-22.1		 pathogenic
GRCh37/hg19 18p11.21-q23(chr18:14869204-78014123)x3 copy number gain See cases [RCV000512030] Chr18:14869204..78014123 [GRCh37]
Chr18:18p11.21-q23		 pathogenic
GRCh37/hg19 18p11.32-q21.1(chr18:136227-46171053)x3 copy number gain See cases [RCV000511857] Chr18:136227..46171053 [GRCh37]
Chr18:18p11.32-q21.1		 pathogenic
GRCh37/hg19 18q11.2-21.1(chr18:24835114-46917217)x3 copy number gain See cases [RCV000511124] Chr18:24835114..46917217 [GRCh37]
Chr18:18q11.2-21.1		 likely benign
GRCh37/hg19 18p11.32-q23(chr18:136227-78014123) copy number gain See cases [RCV000511189] Chr18:136227..78014123 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
NM_177986.5(DSG4):c.3061T>A (p.Ser1021Thr) single nucleotide variant Inborn genetic diseases [RCV003253109] Chr18:31413533 [GRCh38]
Chr18:28993496 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_177986.5(DSG4):c.208A>G (p.Ile70Val) single nucleotide variant Inborn genetic diseases [RCV003270680] Chr18:31386811 [GRCh38]
Chr18:28966774 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_177986.5(DSG4):c.1079C>G (p.Ser360Cys) single nucleotide variant Inborn genetic diseases [RCV003256597] Chr18:31399345 [GRCh38]
Chr18:28979308 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_177986.5(DSG4):c.1114G>A (p.Val372Met) single nucleotide variant Inborn genetic diseases [RCV003299642] Chr18:31399380 [GRCh38]
Chr18:28979343 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_177986.5(DSG4):c.2143T>G (p.Tyr715Asp) single nucleotide variant Inborn genetic diseases [RCV003271174] Chr18:31411236 [GRCh38]
Chr18:28991199 [GRCh37]
Chr18:18q12.1		 uncertain significance
GRCh37/hg19 18q12.1(chr18:26693886-29208276)x3 copy number gain not provided [RCV000684031] Chr18:26693886..29208276 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_177986.5(DSG4):c.1198G>A (p.Gly400Arg) single nucleotide variant DSG4-related disorder [RCV003928177]|Hypotrichosis 6 [RCV000709894]|not provided [RCV000955536] Chr18:31399464 [GRCh38]
Chr18:28979427 [GRCh37]
Chr18:18q12.1		 benign|uncertain significance|not provided
GRCh37/hg19 18q11.1-21.2(chr18:18539806-49926444)x2 copy number gain not provided [RCV000739776] Chr18:18539806..49926444 [GRCh37]
Chr18:18q11.1-21.2		 pathogenic
GRCh37/hg19 18q12.1(chr18:28968371-29051677)x3 copy number gain not provided [RCV000739790] Chr18:28968371..29051677 [GRCh37]
Chr18:18q12.1		 benign
GRCh37/hg19 18q12.1(chr18:28969008-29044159)x3 copy number gain not provided [RCV000739791] Chr18:28969008..29044159 [GRCh37]
Chr18:18q12.1		 benign
NM_177986.5(DSG4):c.48+150A>T single nucleotide variant not provided [RCV001643495] Chr18:31377109 [GRCh38]
Chr18:28957072 [GRCh37]
Chr18:18q12.1		 benign
NM_177986.5(DSG4):c.49-239T>C single nucleotide variant not provided [RCV001609795] Chr18:31384897 [GRCh38]
Chr18:28964860 [GRCh37]
Chr18:18q12.1		 benign
NM_177986.5(DSG4):c.1934-183C>T single nucleotide variant not provided [RCV001691223] Chr18:31409269 [GRCh38]
Chr18:28989232 [GRCh37]
Chr18:18q12.1		 benign
NM_177986.5(DSG4):c.2138-133T>G single nucleotide variant not provided [RCV001647823] Chr18:31411098 [GRCh38]
Chr18:28991061 [GRCh37]
Chr18:18q12.1		 benign
GRCh37/hg19 18p11.32-q23(chr18:12842-78015180)x3 copy number gain not provided [RCV000752245] Chr18:12842..78015180 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
GRCh37/hg19 18p11.32-q23(chr18:13034-78015180)x3 copy number gain not provided [RCV000752246] Chr18:13034..78015180 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
NM_177986.5(DSG4):c.2257_2295dup (p.Ser753_Thr765dup) duplication DSG4-related disorder [RCV003930632]|not provided [RCV000884898] Chr18:31411347..31411348 [GRCh38]
Chr18:28991310..28991311 [GRCh37]
Chr18:18q12.1		 benign
NM_177986.5(DSG4):c.2517A>G (p.Lys839=) single nucleotide variant Hypotrichosis 6 [RCV001124324]|not provided [RCV000966255] Chr18:31412989 [GRCh38]
Chr18:28992952 [GRCh37]
Chr18:18q12.1		 benign|uncertain significance
NM_177986.5(DSG4):c.2366C>T (p.Ala789Val) single nucleotide variant DSG4-related disorder [RCV003948313]|Hypotrichosis 6 [RCV001124321]|Inborn genetic diseases [RCV004028306]|not provided [RCV000881635] Chr18:31412838 [GRCh38]
Chr18:28992801 [GRCh37]
Chr18:18q12.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_177986.5(DSG4):c.2795A>G (p.Asn932Ser) single nucleotide variant Hypotrichosis 6 [RCV001127401]|Inborn genetic diseases [RCV004028509]|not provided [RCV000900854] Chr18:31413267 [GRCh38]
Chr18:28993230 [GRCh37]
Chr18:18q12.1		 likely benign|uncertain significance
NM_177986.5(DSG4):c.2589A>C (p.Pro863=) single nucleotide variant Hypotrichosis 6 [RCV001126983]|not provided [RCV000906188] Chr18:31413061 [GRCh38]
Chr18:28993024 [GRCh37]
Chr18:18q12.1		 benign|likely benign
NM_177986.5(DSG4):c.2391A>C (p.Arg797=) single nucleotide variant Hypotrichosis 6 [RCV001124323]|not provided [RCV000969696] Chr18:31412863 [GRCh38]
Chr18:28992826 [GRCh37]
Chr18:18q12.1		 benign
NM_177986.5(DSG4):c.1539C>T (p.Ile513=) single nucleotide variant Hypotrichosis 6 [RCV001126891]|not provided [RCV000882110] Chr18:31403537 [GRCh38]
Chr18:28983500 [GRCh37]
Chr18:18q12.1		 benign|likely benign
GRCh37/hg19 18q11.2-12.2(chr18:22868759-34335753)x1 copy number loss not provided [RCV001006964] Chr18:22868759..34335753 [GRCh37]
Chr18:18q11.2-12.2		 pathogenic
NC_000018.9:g.(?_28647971)_(29178648_?)dup duplication Amyloidosis, hereditary systemic 1 [RCV001033848] Chr18:28647971..29178648 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_177986.5(DSG4):c.2928del (p.Asp976fs) deletion Hypotrichosis 6 [RCV000778527] Chr18:31413400 [GRCh38]
Chr18:28993363 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_177986.5(DSG4):c.3091C>T (p.Arg1031Ter) single nucleotide variant Hypotrichosis 6 [RCV000778528] Chr18:31413563 [GRCh38]
Chr18:28993526 [GRCh37]
Chr18:18q12.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_177986.5(DSG4):c.3104T>C (p.Ile1035Thr) single nucleotide variant not provided [RCV000941735] Chr18:31413576 [GRCh38]
Chr18:28993539 [GRCh37]
Chr18:18q12.1		 likely benign
NM_177986.5(DSG4):c.2652T>C (p.Thr884=) single nucleotide variant not provided [RCV000897617] Chr18:31413124 [GRCh38]
Chr18:28993087 [GRCh37]
Chr18:18q12.1		 likely benign
NM_177986.5(DSG4):c.2295_2296insTCAGGGGCCGCAAGGAAGAGGAGCTCTACCATGGGAGCC (p.Thr765_Leu766insSerGlyAlaAlaArgLysArgSerSerThrMetGlyAla) insertion not provided [RCV000881634] Chr18:31411386..31411387 [GRCh38]
Chr18:28991349..28991350 [GRCh37]
Chr18:18q12.1		 benign|conflicting interpretations of pathogenicity
NM_177986.5(DSG4):c.2664T>C (p.Val888=) single nucleotide variant not provided [RCV000917981] Chr18:31413136 [GRCh38]
Chr18:28993099 [GRCh37]
Chr18:18q12.1		 likely benign
NM_177986.5(DSG4):c.347A>G (p.Asp116Gly) single nucleotide variant Inborn genetic diseases [RCV003271404] Chr18:31388497 [GRCh38]
Chr18:28968460 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_177986.5(DSG4):c.236C>T (p.Ser79Leu) single nucleotide variant DSG4-related disorder [RCV003926122]|Hypotrichosis 6 [RCV001124114]|not provided [RCV000960306] Chr18:31388386 [GRCh38]
Chr18:28968349 [GRCh37]
Chr18:18q12.1		 benign|uncertain significance
GRCh37/hg19 18q11.2-21.2(chr18:20689919-49455212)x3 copy number gain not provided [RCV001006980] Chr18:20689919..49455212 [GRCh37]
Chr18:18q11.2-21.2		 pathogenic
NM_177986.5(DSG4):c.-43A>C single nucleotide variant Hypotrichosis 6 [RCV001124113] Chr18:31376869 [GRCh38]
Chr18:28956832 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_177986.5(DSG4):c.1210T>C (p.Leu404=) single nucleotide variant DSG4-related disorder [RCV003918712]|Hypotrichosis 6 [RCV001124204] Chr18:31399476 [GRCh38]
Chr18:28979439 [GRCh37]
Chr18:18q12.1		 likely benign|uncertain significance
NM_177986.5(DSG4):c.1753T>C (p.Tyr585His) single nucleotide variant Hypotrichosis 6 [RCV001127295]|Inborn genetic diseases [RCV002556784] Chr18:31406193 [GRCh38]
Chr18:28986156 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_177986.5(DSG4):c.-133C>T single nucleotide variant Hypotrichosis 6 [RCV001123044] Chr18:31376779 [GRCh38]
Chr18:28956742 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_177986.5(DSG4):c.*104A>T single nucleotide variant Hypotrichosis 6 [RCV001123330] Chr18:31413699 [GRCh38]
Chr18:28993662 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_177986.5(DSG4):c.398G>A (p.Arg133Gln) single nucleotide variant Hypotrichosis 6 [RCV001126776] Chr18:31388899 [GRCh38]
Chr18:28968862 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_177986.5(DSG4):c.428T>G (p.Leu143Arg) single nucleotide variant Hypotrichosis 6 [RCV001126777] Chr18:31388929 [GRCh38]
Chr18:28968892 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_177986.5(DSG4):c.968A>G (p.Asp323Gly) single nucleotide variant Hypotrichosis 6 [RCV003229586] Chr18:31392303 [GRCh38]
Chr18:28972266 [GRCh37]
Chr18:18q12.1		 pathogenic
NM_177986.5(DSG4):c.126_129del (p.Thr43fs) deletion Hypotrichosis 6 [RCV003229587] Chr18:31386727..31386730 [GRCh38]
Chr18:28966690..28966693 [GRCh37]
Chr18:18q12.1		 pathogenic
NC_000018.9:g.(?_28647981)_(29648347_?)dup duplication not provided [RCV003107559] Chr18:28647981..29648347 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_177986.5(DSG4):c.2389C>T (p.Arg797Ter) single nucleotide variant Hypotrichosis 6 [RCV004813450] Chr18:31412861 [GRCh38]
Chr18:28992824 [GRCh37]
Chr18:18q12.1		 likely pathogenic
NM_177986.5(DSG4):c.2355+94T>C single nucleotide variant not provided [RCV001612202] Chr18:31411542 [GRCh38]
Chr18:28991505 [GRCh37]
Chr18:18q12.1		 benign
NM_177986.5(DSG4):c.1006-309A>C single nucleotide variant not provided [RCV001661010] Chr18:31398963 [GRCh38]
Chr18:28978926 [GRCh37]
Chr18:18q12.1		 benign
NM_177986.5(DSG4):c.517+37T>G single nucleotide variant not provided [RCV001615727] Chr18:31389055 [GRCh38]
Chr18:28969018 [GRCh37]
Chr18:18q12.1		 benign
NM_177986.5(DSG4):c.1128T>C (p.Val376=) single nucleotide variant Hypotrichosis 6 [RCV001123122]|not provided [RCV000883506] Chr18:31399394 [GRCh38]
Chr18:28979357 [GRCh37]
Chr18:18q12.1		 benign|likely benign|uncertain significance
NM_177986.5(DSG4):c.980A>G (p.Asn327Ser) single nucleotide variant Hypotrichosis 6 [RCV001123121]|not provided [RCV000888856] Chr18:31392315 [GRCh38]
Chr18:28972278 [GRCh37]
Chr18:18q12.1		 benign|uncertain significance
NM_177986.5(DSG4):c.518-2A>G single nucleotide variant Hypotrichosis 6 [RCV001781002] Chr18:31390654 [GRCh38]
Chr18:28970617 [GRCh37]
Chr18:18q12.1		 likely pathogenic
NM_177986.5(DSG4):c.2901A>G (p.Arg967=) single nucleotide variant DSG4-related disorder [RCV003970863]|Hypotrichosis 6 [RCV001127402]|not provided [RCV000966256] Chr18:31413373 [GRCh38]
Chr18:28993336 [GRCh37]
Chr18:18q12.1		 benign|likely benign|uncertain significance
NM_177986.5(DSG4):c.2705A>G (p.His902Arg) single nucleotide variant Hypotrichosis 6 [RCV001126984]|Inborn genetic diseases [RCV002558252] Chr18:31413177 [GRCh38]
Chr18:28993140 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_177986.5(DSG4):c.2104G>A (p.Ala702Thr) single nucleotide variant Hypotrichosis 6 [RCV001123221] Chr18:31409775 [GRCh38]
Chr18:28989738 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_177986.5(DSG4):c.460G>A (p.Ala154Thr) single nucleotide variant Hypotrichosis 6 [RCV001126778]|not provided [RCV000957731] Chr18:31388961 [GRCh38]
Chr18:28968924 [GRCh37]
Chr18:18q12.1		 benign|likely benign
NM_177986.5(DSG4):c.517+63T>C single nucleotide variant not provided [RCV001677754] Chr18:31389081 [GRCh38]
Chr18:28969044 [GRCh37]
Chr18:18q12.1		 benign
NM_177986.5(DSG4):c.518-94G>A single nucleotide variant not provided [RCV001608543] Chr18:31390562 [GRCh38]
Chr18:28970525 [GRCh37]
Chr18:18q12.1		 benign
NM_177986.5(DSG4):c.1278-232C>A single nucleotide variant not provided [RCV001536266] Chr18:31400649 [GRCh38]
Chr18:28980612 [GRCh37]
Chr18:18q12.1		 benign
NM_177986.5(DSG4):c.1005+60A>C single nucleotide variant not provided [RCV001637363] Chr18:31392400 [GRCh38]
Chr18:28972363 [GRCh37]
Chr18:18q12.1		 benign
NM_177986.5(DSG4):c.1934-199A>G single nucleotide variant not provided [RCV001656249] Chr18:31409253 [GRCh38]
Chr18:28989216 [GRCh37]
Chr18:18q12.1		 benign
NM_177986.5(DSG4):c.819+309G>A single nucleotide variant not provided [RCV001721813] Chr18:31391521 [GRCh38]
Chr18:28971484 [GRCh37]
Chr18:18q12.1		 benign
NM_177986.5(DSG4):c.2074-34C>T single nucleotide variant not provided [RCV001595209] Chr18:31409711 [GRCh38]
Chr18:28989674 [GRCh37]
Chr18:18q12.1		 benign
NM_177986.5(DSG4):c.930C>T (p.Leu310=) single nucleotide variant Hypotrichosis 6 [RCV001123120] Chr18:31392265 [GRCh38]
Chr18:28972228 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_177986.5(DSG4):c.1193T>A (p.Ile398Lys) single nucleotide variant Hypotrichosis 6 [RCV001124202] Chr18:31399459 [GRCh38]
Chr18:28979422 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_177986.5(DSG4):c.2308G>A (p.Ala770Thr) single nucleotide variant Hypotrichosis 6 [RCV001124320]|not provided [RCV005093573] Chr18:31411401 [GRCh38]
Chr18:28991364 [GRCh37]
Chr18:18q12.1		 benign|uncertain significance
NM_177986.5(DSG4):c.2387G>T (p.Gly796Val) single nucleotide variant Hypotrichosis 6 [RCV001124322]|Inborn genetic diseases [RCV002556693]|not provided [RCV005093574] Chr18:31412859 [GRCh38]
Chr18:28992822 [GRCh37]
Chr18:18q12.1		 likely benign|uncertain significance
NM_177986.5(DSG4):c.517+7A>T single nucleotide variant Hypotrichosis 6 [RCV001127189] Chr18:31389025 [GRCh38]
Chr18:28968988 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_177986.5(DSG4):c.1655C>A (p.Thr552Lys) single nucleotide variant DSG4-related disorder [RCV003945840]|Hypotrichosis 6 [RCV001127293]|not provided [RCV003565463] Chr18:31406095 [GRCh38]
Chr18:28986058 [GRCh37]
Chr18:18q12.1		 benign|likely benign|uncertain significance
NM_177986.5(DSG4):c.1800C>T (p.Ala600=) single nucleotide variant Hypotrichosis 6 [RCV001127296] Chr18:31406240 [GRCh38]
Chr18:28986203 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_177986.5(DSG4):c.1719C>T (p.Asn573=) single nucleotide variant Hypotrichosis 6 [RCV001127294] Chr18:31406159 [GRCh38]
Chr18:28986122 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_177986.5(DSG4):c.3027A>G (p.Pro1009=) single nucleotide variant Hypotrichosis 6 [RCV001127403] Chr18:31413499 [GRCh38]
Chr18:28993462 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_177986.5(DSG4):c.1933+12A>G single nucleotide variant Hypotrichosis 6 [RCV001123220]|not provided [RCV002556663] Chr18:31406385 [GRCh38]
Chr18:28986348 [GRCh37]
Chr18:18q12.1		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_177986.5(DSG4):c.2266G>T (p.Ala756Ser) single nucleotide variant Hypotrichosis 6 [RCV001123222] Chr18:31411359 [GRCh38]
Chr18:28991322 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_177986.5(DSG4):c.2523G>A (p.Arg841=) single nucleotide variant Hypotrichosis 6 [RCV001124325]|not provided [RCV003565460] Chr18:31412995 [GRCh38]
Chr18:28992958 [GRCh37]
Chr18:18q12.1		 likely benign|uncertain significance
NM_177986.5(DSG4):c.517+27C>T single nucleotide variant not provided [RCV001533994] Chr18:31389045 [GRCh38]
Chr18:28969008 [GRCh37]
Chr18:18q12.1		 benign
GRCh37/hg19 18q11.2-23(chr18:23626739-78014976)x3 copy number gain not provided [RCV001537911] Chr18:23626739..78014976 [GRCh37]
Chr18:18q11.2-23		 pathogenic
NM_177986.5(DSG4):c.1934-250G>A single nucleotide variant not provided [RCV001612520] Chr18:31409202 [GRCh38]
Chr18:28989165 [GRCh37]
Chr18:18q12.1		 benign
NM_177986.5(DSG4):c.3106C>T (p.His1036Tyr) single nucleotide variant Hypotrichosis 6 [RCV001123327] Chr18:31413578 [GRCh38]
Chr18:28993541 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_177986.5(DSG4):c.*55C>T single nucleotide variant Hypotrichosis 6 [RCV001123328] Chr18:31413650 [GRCh38]
Chr18:28993613 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_177986.5(DSG4):c.1148C>T (p.Pro383Leu) single nucleotide variant Hypotrichosis 6 [RCV001124201] Chr18:31399414 [GRCh38]
Chr18:28979377 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_177986.5(DSG4):c.1278-13T>C single nucleotide variant Hypotrichosis 6 [RCV001124205]|not provided [RCV002556690] Chr18:31400868 [GRCh38]
Chr18:28980831 [GRCh37]
Chr18:18q12.1		 benign|uncertain significance
NM_177986.5(DSG4):c.474G>T (p.Ser158=) single nucleotide variant Hypotrichosis 6 [RCV001126779] Chr18:31388975 [GRCh38]
Chr18:28968938 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_177986.5(DSG4):c.1366T>C (p.Ser456Pro) single nucleotide variant Hypotrichosis 6 [RCV001126890]|Inborn genetic diseases [RCV004978038] Chr18:31400969 [GRCh38]
Chr18:28980932 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_177986.5(DSG4):c.*126G>A single nucleotide variant Hypotrichosis 6 [RCV001123331]|not provided [RCV001692351] Chr18:31413721 [GRCh38]
Chr18:28993684 [GRCh37]
Chr18:18q12.1		 benign|likely benign
NM_177986.5(DSG4):c.1637-14C>T single nucleotide variant Hypotrichosis 6 [RCV001127292]|not provided [RCV003708573] Chr18:31406063 [GRCh38]
Chr18:28986026 [GRCh37]
Chr18:18q12.1		 likely benign|uncertain significance
NM_177986.5(DSG4):c.*71A>G single nucleotide variant Hypotrichosis 6 [RCV001123329]|not provided [RCV001655681] Chr18:31413666 [GRCh38]
Chr18:28993629 [GRCh37]
Chr18:18q12.1		 benign|likely benign
NM_177986.5(DSG4):c.1199G>A (p.Gly400Glu) single nucleotide variant Hypotrichosis 6 [RCV001124203] Chr18:31399465 [GRCh38]
Chr18:28979428 [GRCh37]
Chr18:18q12.1		 uncertain significance
GRCh37/hg19 18q12.1(chr18:25329706-29734723)x3 copy number gain not provided [RCV001258867] Chr18:25329706..29734723 [GRCh37]
Chr18:18q12.1		 uncertain significance
GRCh37/hg19 18p11.32-q23(chr18:1-78077248) copy number gain Trisomy 18 [RCV002280660] Chr18:1..78077248 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
NM_177986.5(DSG4):c.82G>T (p.Glu28Ter) single nucleotide variant not provided [RCV001280784] Chr18:31385169 [GRCh38]
Chr18:28965132 [GRCh37]
Chr18:18q12.1		 likely pathogenic
GRCh37/hg19 18q11.2-12.2(chr18:23971647-33737300)x1 copy number loss See cases [RCV001263022] Chr18:23971647..33737300 [GRCh37]
Chr18:18q11.2-12.2		 pathogenic
NM_177986.5(DSG4):c.2065G>T (p.Glu689Ter) single nucleotide variant not provided [RCV002970618] Chr18:31409583 [GRCh38]
Chr18:28989546 [GRCh37]
Chr18:18q12.1		 pathogenic
NM_177986.5(DSG4):c.1967_1970del (p.Lys656fs) deletion Hypotrichosis 6 [RCV001333666] Chr18:31409483..31409486 [GRCh38]
Chr18:28989446..28989449 [GRCh37]
Chr18:18q12.1		 pathogenic
NM_177986.5(DSG4):c.85-133G>C single nucleotide variant not provided [RCV001682367] Chr18:31386555 [GRCh38]
Chr18:28966518 [GRCh37]
Chr18:18q12.1		 benign
NM_177986.5(DSG4):c.685-59G>A single nucleotide variant not provided [RCV001644468] Chr18:31391019 [GRCh38]
Chr18:28970982 [GRCh37]
Chr18:18q12.1		 benign
Single allele deletion Intellectual disability [RCV001787257] Chr18:1262336..53254747 [GRCh37]
Chr18:18p11.32-q21.2		 pathogenic
NM_177986.5(DSG4):c.2307del (p.Asp768_Tyr769insTer) deletion not provided [RCV001753937] Chr18:31411400 [GRCh38]
Chr18:28991363 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_177986.5(DSG4):c.1388_1391del (p.Ile463fs) deletion Hypotrichosis 6 [RCV001781004] Chr18:31400990..31400993 [GRCh38]
Chr18:28980953..28980956 [GRCh37]
Chr18:18q12.1		 likely pathogenic
Single allele deletion Deletion of long arm of chromosome 18 [RCV004801487] Chr18:23614482..49306881 [GRCh38]
Chr18:18q11.2-21.1		 pathogenic
GRCh37/hg19 18p11.32-q23(chr18:136226-78014123) copy number gain not specified [RCV002052616] Chr18:136226..78014123 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
NM_177986.5(DSG4):c.3092G>A (p.Arg1031Gln) single nucleotide variant not provided [RCV001938340] Chr18:31413564 [GRCh38]
Chr18:28993527 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_177986.5(DSG4):c.1732T>C (p.Leu578=) single nucleotide variant not provided [RCV002125009] Chr18:31406172 [GRCh38]
Chr18:28986135 [GRCh37]
Chr18:18q12.1		 benign
NM_177986.5(DSG4):c.314G>A (p.Arg105His) single nucleotide variant not provided [RCV003121252] Chr18:31388464 [GRCh38]
Chr18:28968427 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_177986.5(DSG4):c.216A>G (p.Lys72=) single nucleotide variant not provided [RCV003121647] Chr18:31386819 [GRCh38]
Chr18:28966782 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_177986.5(DSG4):c.2707G>A (p.Gly903Arg) single nucleotide variant Inborn genetic diseases [RCV003255274] Chr18:31413179 [GRCh38]
Chr18:28993142 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_177986.5(DSG4):c.1005+1G>A single nucleotide variant Hypotrichosis 6 [RCV002470326] Chr18:31392341 [GRCh38]
Chr18:28972304 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_177986.5(DSG4):c.946A>G (p.Asn316Asp) single nucleotide variant Inborn genetic diseases [RCV002773331] Chr18:31392281 [GRCh38]
Chr18:28972244 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_177986.5(DSG4):c.2995C>G (p.Pro999Ala) single nucleotide variant Inborn genetic diseases [RCV002753070] Chr18:31413467 [GRCh38]
Chr18:28993430 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_177986.5(DSG4):c.498T>G (p.Ile166Met) single nucleotide variant Inborn genetic diseases [RCV002618733]|not provided [RCV002626413] Chr18:31388999 [GRCh38]
Chr18:28968962 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_177986.5(DSG4):c.1801G>A (p.Ala601Thr) single nucleotide variant Inborn genetic diseases [RCV002973840] Chr18:31406241 [GRCh38]
Chr18:28986204 [GRCh37]
Chr18:18q12.1		 likely benign
NM_177986.5(DSG4):c.2387G>A (p.Gly796Asp) single nucleotide variant Inborn genetic diseases [RCV002865280] Chr18:31412859 [GRCh38]
Chr18:28992822 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_177986.5(DSG4):c.1101G>A (p.Met367Ile) single nucleotide variant Inborn genetic diseases [RCV002818118] Chr18:31399367 [GRCh38]
Chr18:28979330 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_177986.5(DSG4):c.816T>G (p.Thr272=) single nucleotide variant not provided [RCV002731285] Chr18:31391209 [GRCh38]
Chr18:28971172 [GRCh37]
Chr18:18q12.1		 likely benign
NM_177986.5(DSG4):c.2361G>A (p.Ala787=) single nucleotide variant not provided [RCV003075875] Chr18:31412833 [GRCh38]
Chr18:28992796 [GRCh37]
Chr18:18q12.1		 likely benign
NM_177986.5(DSG4):c.2680A>G (p.Met894Val) single nucleotide variant Inborn genetic diseases [RCV002836609] Chr18:31413152 [GRCh38]
Chr18:28993115 [GRCh37]
Chr18:18q12.1		 likely benign
NM_177986.5(DSG4):c.1289G>A (p.Gly430Glu) single nucleotide variant Inborn genetic diseases [RCV002865446] Chr18:31400892 [GRCh38]
Chr18:28980855 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_177986.5(DSG4):c.51G>A (p.Val17=) single nucleotide variant not provided [RCV002976158] Chr18:31385138 [GRCh38]
Chr18:28965101 [GRCh37]
Chr18:18q12.1		 likely benign
NM_177986.5(DSG4):c.2359G>A (p.Ala787Thr) single nucleotide variant Inborn genetic diseases [RCV002662129] Chr18:31412831 [GRCh38]
Chr18:28992794 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_177986.5(DSG4):c.595G>A (p.Val199Ile) single nucleotide variant Inborn genetic diseases [RCV002660337] Chr18:31390733 [GRCh38]
Chr18:28970696 [GRCh37]
Chr18:18q12.1		 likely benign
NM_177986.5(DSG4):c.1028C>T (p.Pro343Leu) single nucleotide variant Inborn genetic diseases [RCV003001643] Chr18:31399294 [GRCh38]
Chr18:28979257 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_177986.5(DSG4):c.623T>C (p.Met208Thr) single nucleotide variant Inborn genetic diseases [RCV002799126]|not provided [RCV003698990] Chr18:31390761 [GRCh38]
Chr18:28970724 [GRCh37]
Chr18:18q12.1		 likely benign|uncertain significance
NM_177986.5(DSG4):c.377A>G (p.Tyr126Cys) single nucleotide variant Inborn genetic diseases [RCV002980817] Chr18:31388878 [GRCh38]
Chr18:28968841 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_177986.5(DSG4):c.1418-16A>G single nucleotide variant not provided [RCV002735674] Chr18:31403400 [GRCh38]
Chr18:28983363 [GRCh37]
Chr18:18q12.1		 benign
NM_177986.5(DSG4):c.2919T>C (p.Gly973=) single nucleotide variant not provided [RCV002640699] Chr18:31413391 [GRCh38]
Chr18:28993354 [GRCh37]
Chr18:18q12.1		 likely benign
NM_177986.5(DSG4):c.2557G>A (p.Glu853Lys) single nucleotide variant Inborn genetic diseases [RCV002916125] Chr18:31413029 [GRCh38]
Chr18:28992992 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_177986.5(DSG4):c.1401G>T (p.Glu467Asp) single nucleotide variant Inborn genetic diseases [RCV002665385] Chr18:31401004 [GRCh38]
Chr18:28980967 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_177986.5(DSG4):c.1118G>A (p.Arg373Lys) single nucleotide variant Inborn genetic diseases [RCV002764587] Chr18:31399384 [GRCh38]
Chr18:28979347 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_177986.5(DSG4):c.129A>C (p.Thr43=) single nucleotide variant not provided [RCV002982176] Chr18:31386732 [GRCh38]
Chr18:28966695 [GRCh37]
Chr18:18q12.1		 likely benign
NM_177986.5(DSG4):c.1025C>T (p.Ala342Val) single nucleotide variant Inborn genetic diseases [RCV002931528] Chr18:31399291 [GRCh38]
Chr18:28979254 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_177986.5(DSG4):c.1255G>A (p.Gly419Arg) single nucleotide variant Inborn genetic diseases [RCV002698848] Chr18:31399521 [GRCh38]
Chr18:28979484 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_177986.5(DSG4):c.1601G>T (p.Gly534Val) single nucleotide variant Inborn genetic diseases [RCV002645447] Chr18:31403599 [GRCh38]
Chr18:28983562 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_177986.5(DSG4):c.1970_1971delinsTT (p.Gln657Leu) indel not provided [RCV002740834] Chr18:31409488..31409489 [GRCh38]
Chr18:28989451..28989452 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_177986.5(DSG4):c.1375A>C (p.Ile459Leu) single nucleotide variant Inborn genetic diseases [RCV002802571] Chr18:31400978 [GRCh38]
Chr18:28980941 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_177986.5(DSG4):c.1081G>A (p.Val361Ile) single nucleotide variant Inborn genetic diseases [RCV002742720] Chr18:31399347 [GRCh38]
Chr18:28979310 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_177986.5(DSG4):c.202A>G (p.Asn68Asp) single nucleotide variant Inborn genetic diseases [RCV002744346] Chr18:31386805 [GRCh38]
Chr18:28966768 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_177986.5(DSG4):c.935G>A (p.Gly312Glu) single nucleotide variant Inborn genetic diseases [RCV002744347] Chr18:31392270 [GRCh38]
Chr18:28972233 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_177986.5(DSG4):c.196A>G (p.Lys66Glu) single nucleotide variant not provided [RCV002938480] Chr18:31386799 [GRCh38]
Chr18:28966762 [GRCh37]
Chr18:18q12.1		 likely benign
NM_177986.5(DSG4):c.892G>A (p.Glu298Lys) single nucleotide variant Inborn genetic diseases [RCV002672985] Chr18:31392227 [GRCh38]
Chr18:28972190 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_177986.5(DSG4):c.2920G>A (p.Val974Met) single nucleotide variant Inborn genetic diseases [RCV003250669]|not provided [RCV002963022] Chr18:31413392 [GRCh38]
Chr18:28993355 [GRCh37]
Chr18:18q12.1		 likely benign|uncertain significance
NM_177986.5(DSG4):c.1374T>C (p.Tyr458=) single nucleotide variant not provided [RCV002746521] Chr18:31400977 [GRCh38]
Chr18:28980940 [GRCh37]
Chr18:18q12.1		 likely benign
NM_177986.5(DSG4):c.100A>G (p.Ile34Val) single nucleotide variant Inborn genetic diseases [RCV002768882] Chr18:31386703 [GRCh38]
Chr18:28966666 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_177986.5(DSG4):c.2684C>T (p.Ala895Val) single nucleotide variant Inborn genetic diseases [RCV002898393] Chr18:31413156 [GRCh38]
Chr18:28993119 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_177986.5(DSG4):c.713G>C (p.Arg238Thr) single nucleotide variant Inborn genetic diseases [RCV002670069] Chr18:31391106 [GRCh38]
Chr18:28971069 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_177986.5(DSG4):c.2977G>A (p.Gly993Ser) single nucleotide variant Inborn genetic diseases [RCV002809821] Chr18:31413449 [GRCh38]
Chr18:28993412 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_177986.5(DSG4):c.1644G>A (p.Ser548=) single nucleotide variant not provided [RCV002578361] Chr18:31406084 [GRCh38]
Chr18:28986047 [GRCh37]
Chr18:18q12.1		 benign
NM_177986.5(DSG4):c.2621A>C (p.Asn874Thr) single nucleotide variant not provided [RCV002988364] Chr18:31413093 [GRCh38]
Chr18:28993056 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_177986.5(DSG4):c.1901G>A (p.Gly634Asp) single nucleotide variant not provided [RCV002938703] Chr18:31406341 [GRCh38]
Chr18:28986304 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_177986.5(DSG4):c.1214A>G (p.Asn405Ser) single nucleotide variant not provided [RCV002627807] Chr18:31399480 [GRCh38]
Chr18:28979443 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_177986.5(DSG4):c.1048G>A (p.Gly350Arg) single nucleotide variant Inborn genetic diseases [RCV002677568] Chr18:31399314 [GRCh38]
Chr18:28979277 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_177986.5(DSG4):c.18C>A (p.Phe6Leu) single nucleotide variant Inborn genetic diseases [RCV002724809] Chr18:31376929 [GRCh38]
Chr18:28956892 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_177986.5(DSG4):c.737C>T (p.Ala246Val) single nucleotide variant not provided [RCV002611618] Chr18:31391130 [GRCh38]
Chr18:28971093 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_177986.5(DSG4):c.3016A>G (p.Met1006Val) single nucleotide variant Inborn genetic diseases [RCV003190134] Chr18:31413488 [GRCh38]
Chr18:28993451 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_177986.5(DSG4):c.2846A>C (p.Asn949Thr) single nucleotide variant Inborn genetic diseases [RCV003201704] Chr18:31413318 [GRCh38]
Chr18:28993281 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_177986.5(DSG4):c.2809G>A (p.Glu937Lys) single nucleotide variant Inborn genetic diseases [RCV003193083] Chr18:31413281 [GRCh38]
Chr18:28993244 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_177986.5(DSG4):c.2030T>C (p.Val677Ala) single nucleotide variant Inborn genetic diseases [RCV003212431] Chr18:31409548 [GRCh38]
Chr18:28989511 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_177986.5(DSG4):c.1145G>C (p.Gly382Ala) single nucleotide variant Inborn genetic diseases [RCV003189734] Chr18:31399411 [GRCh38]
Chr18:28979374 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_177986.5(DSG4):c.625T>C (p.Phe209Leu) single nucleotide variant Inborn genetic diseases [RCV003198361] Chr18:31390763 [GRCh38]
Chr18:28970726 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_177986.5(DSG4):c.884T>C (p.Leu295Pro) single nucleotide variant Inborn genetic diseases [RCV003356626] Chr18:31392219 [GRCh38]
Chr18:28972182 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_177986.5(DSG4):c.1142A>G (p.Glu381Gly) single nucleotide variant Inborn genetic diseases [RCV003343559] Chr18:31399408 [GRCh38]
Chr18:28979371 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_177986.5(DSG4):c.2621A>G (p.Asn874Ser) single nucleotide variant Inborn genetic diseases [RCV003367419] Chr18:31413093 [GRCh38]
Chr18:28993056 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_177986.5(DSG4):c.1356T>G (p.Phe452Leu) single nucleotide variant Inborn genetic diseases [RCV003362532] Chr18:31400959 [GRCh38]
Chr18:28980922 [GRCh37]
Chr18:18q12.1		 uncertain significance
GRCh37/hg19 18q12.1-12.3(chr18:26595964-38643072)x1 copy number loss not provided [RCV003483335] Chr18:26595964..38643072 [GRCh37]
Chr18:18q12.1-12.3		 pathogenic
NM_177986.5(DSG4):c.1830T>A (p.Gly610=) single nucleotide variant not provided [RCV003664743] Chr18:31406270 [GRCh38]
Chr18:28986233 [GRCh37]
Chr18:18q12.1		 likely benign
NM_177986.5(DSG4):c.2733C>T (p.Tyr911=) single nucleotide variant DSG4-related disorder [RCV003929306]|not provided [RCV003717670] Chr18:31413205 [GRCh38]
Chr18:28993168 [GRCh37]
Chr18:18q12.1		 likely benign
GRCh37/hg19 18q12.1(chr18:28974594-29051649)x3 copy number gain not specified [RCV003987275] Chr18:28974594..29051649 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_177986.5(DSG4):c.2190G>C (p.Ser730=) single nucleotide variant not provided [RCV003708490] Chr18:31411283 [GRCh38]
Chr18:28991246 [GRCh37]
Chr18:18q12.1		 likely benign
NM_177986.5(DSG4):c.1836G>A (p.Thr612=) single nucleotide variant not provided [RCV003706883] Chr18:31406276 [GRCh38]
Chr18:28986239 [GRCh37]
Chr18:18q12.1		 likely benign
NM_177986.5(DSG4):c.2997A>T (p.Pro999=) single nucleotide variant DSG4-related disorder [RCV003948994]|not provided [RCV003732049] Chr18:31413469 [GRCh38]
Chr18:28993432 [GRCh37]
Chr18:18q12.1		 likely benign
NM_177986.5(DSG4):c.1375_1376insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAGAAGTCAAAATATA (p.Ile459fs) microsatellite not provided [RCV003680573] Chr18:31400962..31400963 [GRCh38]
Chr18:28980925..28980926 [GRCh37]
Chr18:18q12.1		 pathogenic
NM_177986.5(DSG4):c.2138-48C>T single nucleotide variant DSG4-related disorder [RCV003942039] Chr18:31411183 [GRCh38]
Chr18:28991146 [GRCh37]
Chr18:18q12.1		 likely benign
NM_177986.5(DSG4):c.517+8G>A single nucleotide variant DSG4-related disorder [RCV003921636] Chr18:31389026 [GRCh38]
Chr18:28968989 [GRCh37]
Chr18:18q12.1		 likely benign
NM_177986.5(DSG4):c.216+7G>A single nucleotide variant DSG4-related disorder [RCV003964687] Chr18:31386826 [GRCh38]
Chr18:28966789 [GRCh37]
Chr18:18q12.1		 likely benign
NM_177986.5(DSG4):c.1246T>C (p.Leu416=) single nucleotide variant DSG4-related disorder [RCV003944384] Chr18:31399512 [GRCh38]
Chr18:28979475 [GRCh37]
Chr18:18q12.1		 likely benign
NM_177986.5(DSG4):c.678C>T (p.Asp226=) single nucleotide variant DSG4-related disorder [RCV003951406] Chr18:31390816 [GRCh38]
Chr18:28970779 [GRCh37]
Chr18:18q12.1		 likely benign
NM_177986.5(DSG4):c.1224T>A (p.Leu408=) single nucleotide variant DSG4-related disorder [RCV003931612] Chr18:31399490 [GRCh38]
Chr18:28979453 [GRCh37]
Chr18:18q12.1		 likely benign
NM_177986.5(DSG4):c.2355+8C>T single nucleotide variant DSG4-related disorder [RCV003904445] Chr18:31411456 [GRCh38]
Chr18:28991419 [GRCh37]
Chr18:18q12.1		 likely benign
NM_177986.5(DSG4):c.1994C>T (p.Thr665Ile) single nucleotide variant Inborn genetic diseases [RCV004377283] Chr18:31409512 [GRCh38]
Chr18:28989475 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_177986.5(DSG4):c.2017G>A (p.Gly673Ser) single nucleotide variant Inborn genetic diseases [RCV004377284] Chr18:31409535 [GRCh38]
Chr18:28989498 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_177986.5(DSG4):c.2243G>A (p.Gly748Glu) single nucleotide variant Inborn genetic diseases [RCV004377285] Chr18:31411336 [GRCh38]
Chr18:28991299 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_177986.5(DSG4):c.2638T>A (p.Ser880Thr) single nucleotide variant Inborn genetic diseases [RCV004377289] Chr18:31413110 [GRCh38]
Chr18:28993073 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_177986.5(DSG4):c.2698G>A (p.Val900Met) single nucleotide variant Inborn genetic diseases [RCV004377292] Chr18:31413170 [GRCh38]
Chr18:28993133 [GRCh37]
Chr18:18q12.1		 likely benign
NM_177986.5(DSG4):c.2815G>A (p.Val939Ile) single nucleotide variant Inborn genetic diseases [RCV004377293] Chr18:31413287 [GRCh38]
Chr18:28993250 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_177986.5(DSG4):c.2257T>G (p.Ser753Ala) single nucleotide variant Inborn genetic diseases [RCV004377286] Chr18:31411350 [GRCh38]
Chr18:28991313 [GRCh37]
Chr18:18q12.1		 likely benign
NM_177986.5(DSG4):c.2356A>G (p.Lys786Glu) single nucleotide variant Inborn genetic diseases [RCV004377287] Chr18:31412828 [GRCh38]
Chr18:28992791 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_177986.5(DSG4):c.581T>C (p.Ile194Thr) single nucleotide variant Inborn genetic diseases [RCV004377297] Chr18:31390719 [GRCh38]
Chr18:28970682 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_177986.5(DSG4):c.268G>A (p.Val90Ile) single nucleotide variant Inborn genetic diseases [RCV004377291] Chr18:31388418 [GRCh38]
Chr18:28968381 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_177986.5(DSG4):c.1412T>C (p.Ile471Thr) single nucleotide variant Inborn genetic diseases [RCV004377281] Chr18:31401015 [GRCh38]
Chr18:28980978 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_177986.5(DSG4):c.1946T>C (p.Leu649Ser) single nucleotide variant Inborn genetic diseases [RCV004377282] Chr18:31409464 [GRCh38]
Chr18:28989427 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_177986.5(DSG4):c.2428G>A (p.Gly810Arg) single nucleotide variant Inborn genetic diseases [RCV004377288] Chr18:31412900 [GRCh38]
Chr18:28992863 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_177986.5(DSG4):c.3105A>G (p.Ile1035Met) single nucleotide variant Inborn genetic diseases [RCV004377294] Chr18:31413577 [GRCh38]
Chr18:28993540 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_177986.5(DSG4):c.497T>C (p.Ile166Thr) single nucleotide variant Inborn genetic diseases [RCV004377295] Chr18:31388998 [GRCh38]
Chr18:28968961 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_177986.5(DSG4):c.49G>A (p.Val17Met) single nucleotide variant Inborn genetic diseases [RCV004377296] Chr18:31385136 [GRCh38]
Chr18:28965099 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_177986.5(DSG4):c.386_400del (p.Ala129_Arg133del) deletion Hypotrichosis 6 [RCV004577179] Chr18:31388883..31388897 [GRCh38]
Chr18:28968846..28968860 [GRCh37]
Chr18:18q12.1		 uncertain significance
NC_000018.9:g.(?_28647981)_(29178638_?)del deletion Arrhythmogenic right ventricular dysplasia 11 [RCV004579813] Chr18:28647981..29178638 [GRCh37]
Chr18:18q12.1		 pathogenic
NC_000018.9:g.(?_28898264)_(29126706_?)del deletion not provided [RCV004579849] Chr18:28898264..29126706 [GRCh37]
Chr18:18q12.1		 pathogenic
NM_177986.5(DSG4):c.2205C>G (p.Asn735Lys) single nucleotide variant Inborn genetic diseases [RCV004619964] Chr18:31411298 [GRCh38]
Chr18:28991261 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_177986.5(DSG4):c.1406T>C (p.Leu469Pro) single nucleotide variant Inborn genetic diseases [RCV004619965] Chr18:31401009 [GRCh38]
Chr18:28980972 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_177986.5(DSG4):c.2255C>A (p.Ala752Asp) single nucleotide variant Inborn genetic diseases [RCV004619967] Chr18:31411348 [GRCh38]
Chr18:28991311 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_177986.5(DSG4):c.1822A>G (p.Ile608Val) single nucleotide variant Inborn genetic diseases [RCV004619968] Chr18:31406262 [GRCh38]
Chr18:28986225 [GRCh37]
Chr18:18q12.1		 likely benign
NM_177986.5(DSG4):c.2690C>A (p.Ser897Tyr) single nucleotide variant Inborn genetic diseases [RCV004619963] Chr18:31413162 [GRCh38]
Chr18:28993125 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_177986.5(DSG4):c.2120A>G (p.Asp707Gly) single nucleotide variant Inborn genetic diseases [RCV004619966] Chr18:31409791 [GRCh38]
Chr18:28989754 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_177986.5(DSG4):c.2973G>A (p.Met991Ile) single nucleotide variant Inborn genetic diseases [RCV004619962] Chr18:31413445 [GRCh38]
Chr18:28993408 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_177986.5(DSG4):c.2749T>C (p.Cys917Arg) single nucleotide variant DSG4-related disorder [RCV004758336] Chr18:31413221 [GRCh38]
Chr18:28993184 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_177986.5(DSG4):c.1241T>C (p.Ile414Thr) single nucleotide variant Inborn genetic diseases [RCV004974643] Chr18:31399507 [GRCh38]
Chr18:28979470 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_177986.5(DSG4):c.1184G>C (p.Arg395Pro) single nucleotide variant Inborn genetic diseases [RCV004974651] Chr18:31399450 [GRCh38]
Chr18:28979413 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_177986.5(DSG4):c.2380G>A (p.Asp794Asn) single nucleotide variant Inborn genetic diseases [RCV004974649] Chr18:31412852 [GRCh38]
Chr18:28992815 [GRCh37]
Chr18:18q12.1		 uncertain significance
GRCh37/hg19 18q11.2-12.1(chr18:21553578-32172480)x1 copy number loss not provided [RCV004819393] Chr18:21553578..32172480 [GRCh37]
Chr18:18q11.2-12.1		 pathogenic
GRCh37/hg19 18q11.2-23(chr18:19309942-78014123)x3 copy number gain not provided [RCV004819319] Chr18:19309942..78014123 [GRCh37]
Chr18:18q11.2-23		 pathogenic
NM_177986.5(DSG4):c.2443G>A (p.Val815Ile) single nucleotide variant Inborn genetic diseases [RCV004974655] Chr18:31412915 [GRCh38]
Chr18:28992878 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_177986.5(DSG4):c.3049G>A (p.Val1017Ile) single nucleotide variant Inborn genetic diseases [RCV004974648] Chr18:31413521 [GRCh38]
Chr18:28993484 [GRCh37]
Chr18:18q12.1		 likely benign
NM_177986.5(DSG4):c.418C>T (p.Pro140Ser) single nucleotide variant Inborn genetic diseases [RCV004974645] Chr18:31388919 [GRCh38]
Chr18:28968882 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_177986.5(DSG4):c.1243G>T (p.Asp415Tyr) single nucleotide variant Inborn genetic diseases [RCV004974654] Chr18:31399509 [GRCh38]
Chr18:28979472 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_177986.5(DSG4):c.2614G>A (p.Gly872Arg) single nucleotide variant Inborn genetic diseases [RCV004974644] Chr18:31413086 [GRCh38]
Chr18:28993049 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_177986.5(DSG4):c.2431G>T (p.Val811Phe) single nucleotide variant Inborn genetic diseases [RCV004974647] Chr18:31412903 [GRCh38]
Chr18:28992866 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_177986.5(DSG4):c.74T>C (p.Phe25Ser) single nucleotide variant Inborn genetic diseases [RCV004974652] Chr18:31385161 [GRCh38]
Chr18:28965124 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_177986.5(DSG4):c.1183C>T (p.Arg395Trp) single nucleotide variant Inborn genetic diseases [RCV004974653] Chr18:31399449 [GRCh38]
Chr18:28979412 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_177986.5(DSG4):c.1614G>A (p.Met538Ile) single nucleotide variant Inborn genetic diseases [RCV004974656] Chr18:31403612 [GRCh38]
Chr18:28983575 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_177986.5(DSG4):c.1883T>C (p.Leu628Pro) single nucleotide variant Inborn genetic diseases [RCV004974646] Chr18:31406323 [GRCh38]
Chr18:28986286 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_177986.5(DSG4):c.2548A>G (p.Thr850Ala) single nucleotide variant Inborn genetic diseases [RCV004974650] Chr18:31413020 [GRCh38]
Chr18:28992983 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_177986.5(DSG4):c.1392C>T (p.Tyr464=) single nucleotide variant not provided [RCV005146986] Chr18:31400995 [GRCh38]
Chr18:28980958 [GRCh37]
Chr18:18q12.1		 likely benign
NM_177986.5(DSG4):c.207C>T (p.Pro69=) single nucleotide variant not provided [RCV005157113] Chr18:31386810 [GRCh38]
Chr18:28966773 [GRCh37]
Chr18:18q12.1		 likely benign
NM_177986.5(DSG4):c.383G>A (p.Arg128Gln) single nucleotide variant not provided [RCV005111658] Chr18:31388884 [GRCh38]
Chr18:28968847 [GRCh37]
Chr18:18q12.1		 likely benign
NM_177986.5(DSG4):c.690C>T (p.His230=) single nucleotide variant not provided [RCV005191685] Chr18:31391083 [GRCh38]
Chr18:28971046 [GRCh37]
Chr18:18q12.1		 likely benign
NM_177986.5(DSG4):c.1989G>A (p.Leu663=) single nucleotide variant not provided [RCV005182557] Chr18:31409507 [GRCh38]
Chr18:28989470 [GRCh37]
Chr18:18q12.1		 likely benign
miRNA Target Status (No longer updated)

Predicted Target Of
Summary Value
Count of predictions:816
Count of miRNA genes:327
Interacting mature miRNAs:339
Transcripts:ENST00000308128, ENST00000359747
Prediction methods:Microtar, Miranda, 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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
597516935GWAS1613009_Hmultiple sclerosis symptom measurement QTL GWAS1613009 (human)0.000009multiple sclerosis symptom measurement183140748231407483Human
597505586GWAS1601660_Htubal factor infertility, Chlamydophila infectious disease QTL GWAS1601660 (human)0.0000006tubal factor infertility, Chlamydophila infectious disease183139516931395170Human


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
842 917 1035 399 1841 374 603 370 382 222 1733 1762 1885 1 659 340 823 236 153

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_013040 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001134453 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_177986 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011525827 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC021549 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY168788 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY177663 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY177664 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY227350 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY228236 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC039098 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC132907 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC132909 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471088 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068260 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CS223437 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HH935352 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HI939082 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HI939195 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HI939308 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HI987378 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HI988533 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HI988646 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JA032901 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JA033108 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JA033709 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JA142931 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JA188682 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JA188795 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JA282369 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JA288834 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JA421468 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000308128   ⟹   ENSP00000311859
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1831,376,777 - 31,414,909 (+)Ensembl
Ensembl Acc Id: ENST00000359747   ⟹   ENSP00000352785
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1831,376,883 - 31,414,912 (+)Ensembl
RefSeq Acc Id: NM_001134453   ⟹   NP_001127925
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381831,376,777 - 31,414,909 (+)NCBI
GRCh371828,956,740 - 28,993,880 (+)ENTREZGENE
HuRef1825,812,756 - 25,849,925 (+)ENTREZGENE
CHM1_11828,884,023 - 28,921,163 (+)NCBI
T2T-CHM13v2.01831,567,308 - 31,605,438 (+)NCBI
Sequence:
RefSeq Acc Id: NM_177986   ⟹   NP_817123
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381831,376,777 - 31,414,909 (+)NCBI
GRCh371828,956,740 - 28,993,880 (+)ENTREZGENE
Build 361827,210,738 - 27,247,877 (+)NCBI Archive
HuRef1825,812,756 - 25,849,925 (+)ENTREZGENE
CHM1_11828,884,023 - 28,921,163 (+)NCBI
T2T-CHM13v2.01831,567,308 - 31,605,438 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001127925 (Get FASTA)   NCBI Sequence Viewer  
  NP_817123 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH39098 (Get FASTA)   NCBI Sequence Viewer  
  AAI32908 (Get FASTA)   NCBI Sequence Viewer  
  AAI32910 (Get FASTA)   NCBI Sequence Viewer  
  AAO43657 (Get FASTA)   NCBI Sequence Viewer  
  AAO47077 (Get FASTA)   NCBI Sequence Viewer  
  AAO47078 (Get FASTA)   NCBI Sequence Viewer  
  AAP45000 (Get FASTA)   NCBI Sequence Viewer  
  AAP49811 (Get FASTA)   NCBI Sequence Viewer  
  CAJ46939 (Get FASTA)   NCBI Sequence Viewer  
  CBX36877 (Get FASTA)   NCBI Sequence Viewer  
  CBY79749 (Get FASTA)   NCBI Sequence Viewer  
  CBY79768 (Get FASTA)   NCBI Sequence Viewer  
  CBY79787 (Get FASTA)   NCBI Sequence Viewer  
  CBY88743 (Get FASTA)   NCBI Sequence Viewer  
  CBY88771 (Get FASTA)   NCBI Sequence Viewer  
  CBY88790 (Get FASTA)   NCBI Sequence Viewer  
  CCA61679 (Get FASTA)   NCBI Sequence Viewer  
  CCA61698 (Get FASTA)   NCBI Sequence Viewer  
  CCA61717 (Get FASTA)   NCBI Sequence Viewer  
  CCA64044 (Get FASTA)   NCBI Sequence Viewer  
  CCA64165 (Get FASTA)   NCBI Sequence Viewer  
  CCA64184 (Get FASTA)   NCBI Sequence Viewer  
  CCA65394 (Get FASTA)   NCBI Sequence Viewer  
  CCA65425 (Get FASTA)   NCBI Sequence Viewer  
  CCD32754 (Get FASTA)   NCBI Sequence Viewer  
  EAX01256 (Get FASTA)   NCBI Sequence Viewer  
  EAX01257 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000311859
  ENSP00000311859.4
  ENSP00000352785
  ENSP00000352785.4
GenBank Protein Q86SJ6 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_817123   ⟸   NM_177986
- Peptide Label: isoform 2 preproprotein
- UniProtKB: Q6Y9L9 (UniProtKB/Swiss-Prot),   A2RUI1 (UniProtKB/Swiss-Prot),   Q8IXV4 (UniProtKB/Swiss-Prot),   Q86SJ6 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001127925   ⟸   NM_001134453
- Peptide Label: isoform 1 precursor
- UniProtKB: Q86SJ6 (UniProtKB/Swiss-Prot)
- Sequence:
Ensembl Acc Id: ENSP00000352785   ⟸   ENST00000359747
Ensembl Acc Id: ENSP00000311859   ⟸   ENST00000308128
Protein Domains
Cadherin

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q86SJ6-F1-model_v2 AlphaFold Q86SJ6 1-1040 view protein structure


Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:21307 AgrOrtholog
COSMIC DSG4 COSMIC
Ensembl Genes ENSG00000175065 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000308128 ENTREZGENE
  ENST00000308128.9 UniProtKB/Swiss-Prot
  ENST00000359747 ENTREZGENE
  ENST00000359747.4 UniProtKB/Swiss-Prot
Gene3D-CATH 4.10.900.10 UniProtKB/Swiss-Prot
  Cadherins UniProtKB/Swiss-Prot
GTEx ENSG00000175065 GTEx
HGNC ID HGNC:21307 ENTREZGENE
Human Proteome Map DSG4 Human Proteome Map
InterPro Cadherin-domain_protein UniProtKB/Swiss-Prot
  Cadherin-like_dom UniProtKB/Swiss-Prot
  Cadherin-like_sf UniProtKB/Swiss-Prot
  Cadherin_CS UniProtKB/Swiss-Prot
  Cadherin_Y-type_LIR UniProtKB/Swiss-Prot
  Catenin_binding_dom_sf UniProtKB/Swiss-Prot
  Desmosomal_cadherin UniProtKB/Swiss-Prot
KEGG Report hsa:147409 UniProtKB/Swiss-Prot
NCBI Gene 147409 ENTREZGENE
OMIM 607892 OMIM
PANTHER DESMOGLEIN FAMILY MEMBER UniProtKB/Swiss-Prot
  DESMOGLEIN-4 UniProtKB/Swiss-Prot
Pfam CADH_Y-type_LIR UniProtKB/Swiss-Prot
  Cadherin UniProtKB/Swiss-Prot
PharmGKB PA134925919 PharmGKB
PRINTS CADHERIN UniProtKB/Swiss-Prot
  DESMOCADHERN UniProtKB/Swiss-Prot
  DESMOGLEIN UniProtKB/Swiss-Prot
PROSITE CADHERIN_1 UniProtKB/Swiss-Prot
  CADHERIN_2 UniProtKB/Swiss-Prot
SMART SM00112 UniProtKB/Swiss-Prot
Superfamily-SCOP SSF49313 UniProtKB/Swiss-Prot
UniProt A2RUI1 ENTREZGENE
  DSG4_HUMAN UniProtKB/Swiss-Prot
  Q6Y9L9 ENTREZGENE
  Q86SJ6 ENTREZGENE
  Q8IXV4 ENTREZGENE
UniProt Secondary A2RUI1 UniProtKB/Swiss-Prot
  Q6Y9L9 UniProtKB/Swiss-Prot
  Q8IXV4 UniProtKB/Swiss-Prot