DCHS1 (dachsous cadherin-related 1) - Rat Genome Database

Send us a Message



 Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap)  (beta) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer) Overgo Probe Designer
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease COVID-19 Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models PhenoMiner (Quantitative Phenotypes) Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes GERRC (Gene Editing Rat Resource Center) Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Poster Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Gene: DCHS1 (dachsous cadherin-related 1) Homo sapiens
Analyze
Symbol: DCHS1
Name: dachsous cadherin-related 1
RGD ID: 1349063
HGNC Page HGNC:13681
Description: Predicted to enable cadherin binding activity and calcium ion binding activity. Involved in cell migration involved in endocardial cushion formation and mitral valve formation. Predicted to be located in apical part of cell and plasma membrane. Predicted to be part of catenin complex. Predicted to be active in adherens junction. Implicated in Van Maldergem syndrome 1 and mitral valve prolapse.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: cadherin-19; cadherin-25; cadherin-related family member 6; CDH19; CDH25; CDHR6; dachsous 1; FIB1; fibroblast cadherin 1; fibroblast cadherin FIB1; fibroblast cadherin-1; FLJ11790; KIAA1773; MMVP2; MVP2; myxomatous mitral valve prolapse 2; PCDH16; protein dachsous homolog 1; protocadherin 16; protocadherin-16; VMLDS1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38116,621,330 - 6,655,809 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl116,621,330 - 6,655,809 (-)EnsemblGRCh38hg38GRCh38
GRCh37116,642,561 - 6,677,040 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36116,599,134 - 6,633,656 (-)NCBINCBI36Build 36hg18NCBI36
Build 34116,599,133 - 6,633,431NCBI
Celera116,761,623 - 6,801,774 (-)NCBICelera
Cytogenetic Map11p15.4NCBI
HuRef116,301,489 - 6,321,899 (-)NCBIHuRef
CHM1_1116,641,459 - 6,675,831 (-)NCBICHM1_1
T2T-CHM13v2.0116,679,797 - 6,714,267 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal corpus callosum morphology  (IAGP)
Abnormal facial shape  (IAGP)
Abnormal heart morphology  (IAGP)
Abnormal renal pelvis morphology  (IAGP)
Absence of pubertal development  (IAGP)
Agenesis of corpus callosum  (IAGP)
Anal atresia  (IAGP)
Anal stenosis  (IAGP)
Anteriorly placed anus  (IAGP)
Ataxia  (IAGP)
Atresia of the external auditory canal  (IAGP)
Autosomal dominant inheritance  (IAGP)
Autosomal recessive inheritance  (IAGP)
Bilateral choanal atresia/stenosis  (IAGP)
Blepharophimosis  (IAGP)
Camptodactyly  (IAGP)
Caudal appendage  (IAGP)
Cerebellar vermis hypoplasia  (IAGP)
Clinodactyly  (IAGP)
Conductive hearing impairment  (IAGP)
Congenital onset  (IAGP)
Cutaneous finger syndactyly  (IAGP)
Delayed speech and language development  (IAGP)
Dental malocclusion  (IAGP)
Downturned corners of mouth  (IAGP)
Dysplastic corpus callosum  (IAGP)
Epicanthus  (IAGP)
Feeding difficulties  (IAGP)
Gastrostomy tube feeding in infancy  (IAGP)
Generalized hypotonia  (IAGP)
Global developmental delay  (IAGP)
Gray matter heterotopia  (IAGP)
Growth delay  (IAGP)
High palate  (IAGP)
Hypertelorism  (IAGP)
Hypopigmented skin patches  (IAGP)
Hypoplasia of the corpus callosum  (IAGP)
Hypoplasia of the maxilla  (IAGP)
Hypospadias  (IAGP)
Hypotonia  (IAGP)
Infantile muscular hypotonia  (IAGP)
Intellectual disability  (IAGP)
Intellectual disability, moderate  (IAGP)
Intellectual disability, severe  (IAGP)
Irregular dentition  (IAGP)
Joint hypermobility  (IAGP)
Joint laxity  (IAGP)
Large fontanelles  (IAGP)
Lymphedema  (IAGP)
Malar flattening  (IAGP)
Microcephaly  (IAGP)
Micrognathia  (IAGP)
Microtia  (IAGP)
Midface retrusion  (IAGP)
Mitral regurgitation  (IAGP)
Mitral valve prolapse  (IAGP)
Narrow chest  (IAGP)
Narrow forehead  (IAGP)
Narrow mouth  (IAGP)
Neonatal hypotonia  (IAGP)
Osteopenia  (IAGP)
Pachygyria  (IAGP)
Periventricular heterotopia  (IAGP)
Periventricular nodular heterotopia  (IAGP)
Ptosis  (IAGP)
Pulmonic stenosis  (IAGP)
Radial head subluxation  (IAGP)
Relative macrocephaly  (IAGP)
Renal hypoplasia  (IAGP)
Sacral dimple  (IAGP)
Scoliosis  (IAGP)
Self-injurious behavior  (IAGP)
Sensorineural hearing impairment  (IAGP)
Short 4th metacarpal  (IAGP)
Short clavicles  (IAGP)
Short fourth metatarsal  (IAGP)
Short palpebral fissure  (IAGP)
Short stature  (IAGP)
Simplified gyral pattern  (IAGP)
Skeletal dysplasia  (IAGP)
Subcortical band heterotopia  (IAGP)
Syndactyly  (IAGP)
Talipes equinovarus  (IAGP)
Tented upper lip vermilion  (IAGP)
Tracheomalacia  (IAGP)
Typified by age-related disease onset  (IAGP)
Ventriculomegaly  (IAGP)
Wide anterior fontanel  (IAGP)
Wide cranial sutures  (IAGP)
Wide nasal bridge  (IAGP)
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
Additional References at PubMed
PMID:9199196   PMID:11597768   PMID:12707861   PMID:14702039   PMID:20379614   PMID:21873635   PMID:21875946   PMID:24056717   PMID:25355906   PMID:25930014   PMID:26258302   PMID:26949739  
PMID:27074579   PMID:28514442   PMID:29224215   PMID:29505454   PMID:31358536   PMID:32295462   PMID:33961781   PMID:36053189   PMID:36215168   PMID:36797229  


Genomics

Comparative Map Data
DCHS1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38116,621,330 - 6,655,809 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl116,621,330 - 6,655,809 (-)EnsemblGRCh38hg38GRCh38
GRCh37116,642,561 - 6,677,040 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36116,599,134 - 6,633,656 (-)NCBINCBI36Build 36hg18NCBI36
Build 34116,599,133 - 6,633,431NCBI
Celera116,761,623 - 6,801,774 (-)NCBICelera
Cytogenetic Map11p15.4NCBI
HuRef116,301,489 - 6,321,899 (-)NCBIHuRef
CHM1_1116,641,459 - 6,675,831 (-)NCBICHM1_1
T2T-CHM13v2.0116,679,797 - 6,714,267 (-)NCBIT2T-CHM13v2.0
Dchs1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm397105,402,196 - 105,437,562 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl7105,402,197 - 105,436,861 (-)EnsemblGRCm39 Ensembl
GRCm387105,752,989 - 105,788,355 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl7105,752,990 - 105,787,654 (-)EnsemblGRCm38mm10GRCm38
MGSCv377112,901,503 - 112,936,064 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv367105,626,810 - 105,661,745 (-)NCBIMGSCv36mm8
Celera7106,024,342 - 106,044,662 (-)NCBICelera
Cytogenetic Map7E3NCBI
Dchs1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21160,104,931 - 160,138,958 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1160,104,931 - 160,124,808 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1168,127,491 - 168,147,371 (-)NCBIRnor_SHR
UTH_Rnor_SHRSP_BbbUtx_1.01175,313,488 - 175,333,368 (-)NCBIRnor_SHRSP
UTH_Rnor_WKY_Bbb_1.01168,215,246 - 168,235,124 (-)NCBIRnor_WKY
Rnor_6.01170,594,981 - 170,629,062 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1170,594,822 - 170,628,915 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01177,600,833 - 177,634,911 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41163,497,340 - 163,517,217 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11163,593,288 - 163,612,580 (-)NCBI
Celera1158,036,763 - 158,056,640 (-)NCBICelera
Cytogenetic Map1q32NCBI
Dchs1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541422,332,059 - 22,351,576 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495541422,331,590 - 22,365,761 (-)NCBIChiLan1.0ChiLan1.0
DCHS1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1116,436,082 - 6,456,464 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl116,436,536 - 6,456,352 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0116,753,383 - 6,787,896 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
DCHS1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12129,927,713 - 29,955,742 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2129,928,176 - 29,948,713 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2129,629,571 - 29,664,439 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02130,753,896 - 30,788,761 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2130,753,914 - 30,816,785 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12130,074,653 - 30,109,506 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02130,240,306 - 30,275,200 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02130,435,640 - 30,470,548 (-)NCBIUU_Cfam_GSD_1.0
Dchs1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494755,970,003 - 55,998,070 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936842677,416 - 697,003 (-)EnsemblSpeTri2.0
SpeTri2.0NW_004936842677,416 - 697,013 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
DCHS1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl93,113,451 - 3,134,821 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.193,099,525 - 3,134,825 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.293,765,872 - 3,792,053 (+)NCBISscrofa10.2Sscrofa10.2susScr3
DCHS1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1158,170,494 - 58,204,156 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl158,184,591 - 58,205,962 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666038155,996,267 - 156,029,917 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Dchs1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248178,111,718 - 8,134,342 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248178,111,714 - 8,147,699 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in DCHS1
572 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_003737.4(DCHS1):c.2995C>T (p.Arg999Ter) single nucleotide variant not provided [RCV000722457] Chr11:6632517 [GRCh38]
Chr11:6653748 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.1964del (p.Phe655fs) deletion Van Maldergem syndrome 1 [RCV001548768] Chr11:6634140 [GRCh38]
Chr11:6655371 [GRCh37]
Chr11:11p15.4		 pathogenic
NM_003737.4(DCHS1):c.6089_6090delinsTT (p.Gly2030Val) indel not provided [RCV000722930] Chr11:6626949..6626950 [GRCh38]
Chr11:6648180..6648181 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.1679C>T (p.Ser560Phe) single nucleotide variant Global developmental delay [RCV000735299]|Inborn genetic diseases [RCV002535426]|not provided [RCV002061024] Chr11:6639935 [GRCh38]
Chr11:6661166 [GRCh37]
Chr11:11p15.4		 benign|likely benign|uncertain significance
NM_003737.4(DCHS1):c.704G>A (p.Arg235Gln) single nucleotide variant Inborn genetic diseases [RCV002525209]|Van Maldergem syndrome 1 [RCV001336075]|not provided [RCV000519012] Chr11:6640910 [GRCh38]
Chr11:6662141 [GRCh37]
Chr11:11p15.4		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_003737.4(DCHS1):c.5868T>C (p.His1956=) single nucleotide variant not provided [RCV002089063] Chr11:6627171 [GRCh38]
Chr11:6648402 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.2503G>T (p.Gly835Ter) single nucleotide variant Van Maldergem syndrome 1 [RCV000074481] Chr11:6633009 [GRCh38]
Chr11:6654240 [GRCh37]
Chr11:11p15.4		 pathogenic
NM_003737.4(DCHS1):c.2543del (p.Thr848fs) deletion Van Maldergem syndrome 1 [RCV000074482] Chr11:6632969 [GRCh38]
Chr11:6654200 [GRCh37]
Chr11:11p15.4		 pathogenic
NM_003737.4(DCHS1):c.7109A>T (p.Asn2370Ile) single nucleotide variant Van Maldergem syndrome 1 [RCV000074483] Chr11:6625235 [GRCh38]
Chr11:6646466 [GRCh37]
Chr11:11p15.4		 pathogenic
GRCh38/hg38 11p15.4(chr11:3745061-7846057)x3 copy number gain See cases [RCV000053616] Chr11:3745061..7846057 [GRCh38]
Chr11:3766291..7867604 [GRCh37]
Chr11:3722867..7824180 [NCBI36]
Chr11:11p15.4		 pathogenic
GRCh38/hg38 11p15.5-13(chr11:202758-31726224)x3 copy number gain See cases [RCV000053613] Chr11:202758..31726224 [GRCh38]
Chr11:202758..31747772 [GRCh37]
Chr11:192758..31704348 [NCBI36]
Chr11:11p15.5-13		 pathogenic
NM_003737.4(DCHS1):c.2044C>T (p.Pro682Ser) single nucleotide variant not provided [RCV002617375] Chr11:6633963 [GRCh38]
Chr11:6655194 [GRCh37]
Chr11:6611770 [NCBI36]
Chr11:11p15.4		 uncertain significance|not provided
NM_003737.3(DCHS1):c.574C>T (p.Arg192Trp) single nucleotide variant Malignant melanoma [RCV000069624] Chr11:6641040 [GRCh38]
Chr11:6662271 [GRCh37]
Chr11:6618847 [NCBI36]
Chr11:11p15.4		 not provided
NM_003737.4(DCHS1):c.7207C>T (p.Arg2403Trp) single nucleotide variant Inborn genetic diseases [RCV002568465]|not provided [RCV001572572] Chr11:6624808 [GRCh38]
Chr11:6646039 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.1245C>A (p.Ser415Arg) single nucleotide variant Inborn genetic diseases [RCV002527431]|not provided [RCV000513786] Chr11:6640369 [GRCh38]
Chr11:6661600 [GRCh37]
Chr11:11p15.4		 benign|likely benign
NM_003737.4(DCHS1):c.5624_5627dup (p.Gln1876fs) duplication not provided [RCV001780916] Chr11:6627411..6627412 [GRCh38]
Chr11:6648642..6648643 [GRCh37]
Chr11:11p15.4		 likely pathogenic
GRCh38/hg38 11p15.5-15.1(chr11:446754-18904742)x3 copy number gain See cases [RCV000133997] Chr11:446754..18904742 [GRCh38]
Chr11:446754..18926289 [GRCh37]
Chr11:436754..18882865 [NCBI36]
Chr11:11p15.5-15.1		 pathogenic
GRCh38/hg38 11p15.4(chr11:6261582-6637999)x3 copy number gain See cases [RCV000136804] Chr11:6261582..6637999 [GRCh38]
Chr11:6282812..6659230 [GRCh37]
Chr11:6239388..6615806 [NCBI36]
Chr11:11p15.4		 pathogenic
GRCh38/hg38 11p15.5-15.4(chr11:61793-10727969)x3 copy number gain See cases [RCV000139987] Chr11:61793..10727969 [GRCh38]
Chr11:61793..10749516 [GRCh37]
Chr11:51793..10706092 [NCBI36]
Chr11:11p15.5-15.4		 pathogenic
NM_003737.4(DCHS1):c.6988C>T (p.Arg2330Cys) single nucleotide variant Mitral valve prolapse, myxomatous 2 [RCV000201937]|not provided [RCV001356564] Chr11:6625356 [GRCh38]
Chr11:6646587 [GRCh37]
Chr11:11p15.4		 pathogenic|likely pathogenic
NM_003737.4(DCHS1):c.7538G>A (p.Arg2513His) single nucleotide variant Mitral valve prolapse, myxomatous 2 [RCV000201949]|not provided [RCV000896845] Chr11:6624138 [GRCh38]
Chr11:6645369 [GRCh37]
Chr11:11p15.4		 pathogenic|likely benign
NM_003737.4(DCHS1):c.3158G>C (p.Trp1053Ser) single nucleotide variant Van Maldergem syndrome 1 [RCV000209845]|not provided [RCV000882392] Chr11:6632354 [GRCh38]
Chr11:6653585 [GRCh37]
Chr11:11p15.4		 likely benign|uncertain significance
NM_003737.4(DCHS1):c.3826_3827delinsAA (p.Ala1276Lys) indel not specified [RCV000521832] Chr11:6631156..6631157 [GRCh38]
Chr11:6652387..6652388 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.4114G>A (p.Gly1372Ser) single nucleotide variant Van Maldergem syndrome 1 [RCV000209953] Chr11:6630680 [GRCh38]
Chr11:6651911 [GRCh37]
Chr11:11p15.4		 likely benign|uncertain significance
NM_003737.4(DCHS1):c.1906G>A (p.Gly636Ser) single nucleotide variant not specified [RCV000239008] Chr11:6634198 [GRCh38]
Chr11:6655429 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.1986+17A>T single nucleotide variant Van Maldergem syndrome 1 [RCV001660245]|not provided [RCV001683038]|not specified [RCV000250890] Chr11:6634101 [GRCh38]
Chr11:6655332 [GRCh37]
Chr11:11p15.4		 benign
NM_003737.4(DCHS1):c.1902C>T (p.His634=) single nucleotide variant Van Maldergem syndrome 1 [RCV001660244]|not provided [RCV001660243]|not specified [RCV000246366] Chr11:6634202 [GRCh38]
Chr11:6655433 [GRCh37]
Chr11:11p15.4		 benign
NM_003737.4(DCHS1):c.6365-11A>G single nucleotide variant Van Maldergem syndrome 1 [RCV001660249]|not provided [RCV001610640]|not specified [RCV000242400] Chr11:6626391 [GRCh38]
Chr11:6647622 [GRCh37]
Chr11:11p15.4		 benign
NM_003737.4(DCHS1):c.7147-9A>G single nucleotide variant not provided [RCV001534260]|not specified [RCV000247390] Chr11:6624877 [GRCh38]
Chr11:6646108 [GRCh37]
Chr11:11p15.4		 benign
NM_003737.4(DCHS1):c.3696G>A (p.Pro1232=) single nucleotide variant Van Maldergem syndrome 1 [RCV001660246]|not provided [RCV001651180]|not specified [RCV000242869] Chr11:6631387 [GRCh38]
Chr11:6652618 [GRCh37]
Chr11:11p15.4		 benign
NM_003737.4(DCHS1):c.4215T>C (p.Leu1405=) single nucleotide variant Van Maldergem syndrome 1 [RCV001660247]|not provided [RCV001683039]|not specified [RCV000245891] Chr11:6630579 [GRCh38]
Chr11:6651810 [GRCh37]
Chr11:11p15.4		 benign
NM_003737.4(DCHS1):c.5846C>T (p.Thr1949Met) single nucleotide variant Van Maldergem syndrome 1 [RCV001660248]|not provided [RCV001709541]|not specified [RCV000250834] Chr11:6627193 [GRCh38]
Chr11:6648424 [GRCh37]
Chr11:11p15.4		 benign
NM_003737.4(DCHS1):c.1709A>G (p.Asp570Gly) single nucleotide variant not provided [RCV000347562] Chr11:6639905 [GRCh38]
Chr11:6661136 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.4072G>A (p.Glu1358Lys) single nucleotide variant Van Maldergem syndrome 1 [RCV001329122]|not provided [RCV000325896] Chr11:6630722 [GRCh38]
Chr11:6651953 [GRCh37]
Chr11:11p15.4		 conflicting interpretations of pathogenicity|uncertain significance
NM_003737.4(DCHS1):c.7481A>C (p.Asp2494Ala) single nucleotide variant not provided [RCV000489346] Chr11:6624195 [GRCh38]
Chr11:6645426 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.877G>A (p.Glu293Lys) single nucleotide variant Global developmental delay [RCV000735301]|Inborn genetic diseases [RCV002535427]|not provided [RCV002067179] Chr11:6640737 [GRCh38]
Chr11:6661968 [GRCh37]
Chr11:11p15.4		 benign|likely benign|uncertain significance
NM_003737.4(DCHS1):c.7933G>A (p.Asp2645Asn) single nucleotide variant not provided [RCV001760656] Chr11:6623743 [GRCh38]
Chr11:6644974 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.614C>T (p.Pro205Leu) single nucleotide variant not provided [RCV002287932] Chr11:6641000 [GRCh38]
Chr11:6662231 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.2699C>T (p.Thr900Met) single nucleotide variant not provided [RCV000489008] Chr11:6632813 [GRCh38]
Chr11:6654044 [GRCh37]
Chr11:11p15.4		 conflicting interpretations of pathogenicity|uncertain significance
NM_003737.4(DCHS1):c.973C>T (p.Arg325Trp) single nucleotide variant Inborn genetic diseases [RCV002528274]|not provided [RCV000521802] Chr11:6640641 [GRCh38]
Chr11:6661872 [GRCh37]
Chr11:11p15.4		 conflicting interpretations of pathogenicity|uncertain significance
NM_003737.4(DCHS1):c.9443C>T (p.Thr3148Ile) single nucleotide variant not provided [RCV001760538] Chr11:6622233 [GRCh38]
Chr11:6643464 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.7448C>T (p.Thr2483Ile) single nucleotide variant Inborn genetic diseases [RCV002524674]|not provided [RCV000415887] Chr11:6624228 [GRCh38]
Chr11:6645459 [GRCh37]
Chr11:11p15.4		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_003737.4(DCHS1):c.8264G>A (p.Arg2755His) single nucleotide variant Inborn genetic diseases [RCV002535282]|not provided [RCV000732595] Chr11:6623412 [GRCh38]
Chr11:6644643 [GRCh37]
Chr11:11p15.4		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_003737.4(DCHS1):c.7846C>G (p.Pro2616Ala) single nucleotide variant not provided [RCV000732600] Chr11:6623830 [GRCh38]
Chr11:6645061 [GRCh37]
Chr11:11p15.4		 conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 11p15.5-15.4(chr11:230615-6644927)x3 copy number gain See cases [RCV000449417] Chr11:230615..6644927 [GRCh37]
Chr11:11p15.5-15.4		 pathogenic
NM_003737.4(DCHS1):c.5938A>T (p.Thr1980Ser) single nucleotide variant not provided [RCV000443393] Chr11:6627101 [GRCh38]
Chr11:6648332 [GRCh37]
Chr11:11p15.4		 benign
NM_003737.4(DCHS1):c.4555C>T (p.Pro1519Ser) single nucleotide variant not provided [RCV000417729] Chr11:6630239 [GRCh38]
Chr11:6651470 [GRCh37]
Chr11:11p15.4		 conflicting interpretations of pathogenicity|uncertain significance
NM_003737.4(DCHS1):c.2382G>C (p.Gln794His) single nucleotide variant Van Maldergem syndrome 1 [RCV000504966]|not provided [RCV001577267]|not specified [RCV002248740] Chr11:6633485 [GRCh38]
Chr11:6654716 [GRCh37]
Chr11:11p15.4		 pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_003737.4(DCHS1):c.1103G>A (p.Ser368Asn) single nucleotide variant not provided [RCV000422160] Chr11:6640511 [GRCh38]
Chr11:6661742 [GRCh37]
Chr11:11p15.4		 conflicting interpretations of pathogenicity|uncertain significance
NM_003737.4(DCHS1):c.7519A>G (p.Thr2507Ala) single nucleotide variant not provided [RCV000422503] Chr11:6624157 [GRCh38]
Chr11:6645388 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.379G>A (p.Val127Ile) single nucleotide variant Global developmental delay [RCV000735300]|not provided [RCV000432741] Chr11:6641235 [GRCh38]
Chr11:6662466 [GRCh37]
Chr11:11p15.4		 benign|likely benign
NM_003737.4(DCHS1):c.8758G>A (p.Val2920Met) single nucleotide variant not provided [RCV000433569] Chr11:6622918 [GRCh38]
Chr11:6644149 [GRCh37]
Chr11:11p15.4		 benign|likely benign
NM_003737.4(DCHS1):c.592G>T (p.Gly198Cys) single nucleotide variant not provided [RCV000493696] Chr11:6641022 [GRCh38]
Chr11:6662253 [GRCh37]
Chr11:11p15.4		 uncertain significance
GRCh37/hg19 11p15.5-12(chr11:230615-37698540)x3 copy number gain See cases [RCV000511561] Chr11:230615..37698540 [GRCh37]
Chr11:11p15.5-12		 pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470) copy number gain See cases [RCV000511729] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3 copy number gain See cases [RCV000510881] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
GRCh37/hg19 11p15.5-15.3(chr11:193146-12643136) copy number gain Silver-Russell syndrome 1 [RCV000767567] Chr11:193146..12643136 [GRCh37]
Chr11:11p15.5-15.3		 pathogenic
NM_003737.4(DCHS1):c.5567C>A (p.Pro1856His) single nucleotide variant Inborn genetic diseases [RCV000624125]|not provided [RCV000956894] Chr11:6627472 [GRCh38]
Chr11:6648703 [GRCh37]
Chr11:11p15.4		 benign|likely benign|conflicting interpretations of pathogenicity
NM_003737.4(DCHS1):c.2852G>A (p.Arg951Gln) single nucleotide variant Inborn genetic diseases [RCV000622497]|not provided [RCV001860421] Chr11:6632660 [GRCh38]
Chr11:6653891 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.1493G>A (p.Arg498Gln) single nucleotide variant not provided [RCV000595865] Chr11:6640121 [GRCh38]
Chr11:6661352 [GRCh37]
Chr11:11p15.4		 conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 11p15.5-14.3(chr11:230615-25584362)x3 copy number gain See cases [RCV000512225] Chr11:230615..25584362 [GRCh37]
Chr11:11p15.5-14.3		 pathogenic
NM_003737.4(DCHS1):c.58C>T (p.His20Tyr) single nucleotide variant not provided [RCV000515114] Chr11:6641556 [GRCh38]
Chr11:6662787 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.1546G>A (p.Ala516Thr) single nucleotide variant not provided [RCV000512954]|not specified [RCV000736107] Chr11:6640068 [GRCh38]
Chr11:6661299 [GRCh37]
Chr11:11p15.4		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 11p15.5-13(chr11:230615-31995219)x3 copy number gain See cases [RCV000512477] Chr11:230615..31995219 [GRCh37]
Chr11:11p15.5-13		 pathogenic
NM_003737.4(DCHS1):c.7736A>T (p.Gln2579Leu) single nucleotide variant not provided [RCV000658583] Chr11:6623940 [GRCh38]
Chr11:6645171 [GRCh37]
Chr11:11p15.4		 uncertain significance
GRCh37/hg19 11p15.5-15.1(chr11:230615-17099213)x3 copy number gain not provided [RCV000683372] Chr11:230615..17099213 [GRCh37]
Chr11:11p15.5-15.1		 pathogenic
GRCh37/hg19 11p15.5-15.4(chr11:230615-9704511)x3 copy number gain not provided [RCV000683369] Chr11:230615..9704511 [GRCh37]
Chr11:11p15.5-15.4		 pathogenic
NM_003737.4(DCHS1):c.5821A>G (p.Ser1941Gly) single nucleotide variant Van Maldergem syndrome 1 [RCV000714627] Chr11:6627218 [GRCh38]
Chr11:6648449 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.6208del (p.Arg2070fs) deletion not provided [RCV000722282] Chr11:6626831 [GRCh38]
Chr11:6648062 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.8599G>A (p.Ala2867Thr) single nucleotide variant not provided [RCV001573548]|not specified [RCV001700788] Chr11:6623077 [GRCh38]
Chr11:6644308 [GRCh37]
Chr11:11p15.4		 benign|likely benign
NM_003737.4(DCHS1):c.2000C>G (p.Ser667Cys) single nucleotide variant not provided [RCV001529145] Chr11:6634007 [GRCh38]
Chr11:6655238 [GRCh37]
Chr11:11p15.4		 uncertain significance
GRCh37/hg19 11p15.5-q25(chr11:198510-134934063)x3 copy number gain not provided [RCV000737348] Chr11:198510..134934063 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
GRCh37/hg19 11p15.5-q25(chr11:70864-134938470)x3 copy number gain not provided [RCV000749874] Chr11:70864..134938470 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
NM_003737.4(DCHS1):c.6422G>A (p.Arg2141Gln) single nucleotide variant not provided [RCV001529693] Chr11:6626323 [GRCh38]
Chr11:6647554 [GRCh37]
Chr11:11p15.4		 conflicting interpretations of pathogenicity|uncertain significance
NM_003737.4(DCHS1):c.4553G>A (p.Arg1518Gln) single nucleotide variant Inborn genetic diseases [RCV002539702]|not provided [RCV001703361] Chr11:6630241 [GRCh38]
Chr11:6651472 [GRCh37]
Chr11:11p15.4		 likely benign|uncertain significance
NM_003737.4(DCHS1):c.5697A>G (p.Ala1899=) single nucleotide variant not provided [RCV001610040]|not specified [RCV001701208] Chr11:6627342 [GRCh38]
Chr11:6648573 [GRCh37]
Chr11:11p15.4		 benign
NM_003737.4(DCHS1):c.2996G>A (p.Arg999Gln) single nucleotide variant not provided [RCV000958385] Chr11:6632516 [GRCh38]
Chr11:6653747 [GRCh37]
Chr11:11p15.4		 benign|likely benign
NM_003737.4(DCHS1):c.3132C>G (p.Pro1044=) single nucleotide variant not provided [RCV000894935] Chr11:6632380 [GRCh38]
Chr11:6653611 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.6991G>A (p.Val2331Ile) single nucleotide variant not provided [RCV001573959]|not specified [RCV001699592] Chr11:6625353 [GRCh38]
Chr11:6646584 [GRCh37]
Chr11:11p15.4		 benign|likely benign
NM_003737.4(DCHS1):c.1695C>T (p.Ser565=) single nucleotide variant not provided [RCV000895515] Chr11:6639919 [GRCh38]
Chr11:6661150 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.1642G>A (p.Val548Met) single nucleotide variant not provided [RCV000761761] Chr11:6639972 [GRCh38]
Chr11:6661203 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.2055T>G (p.Phe685Leu) single nucleotide variant Van Maldergem syndrome 1 [RCV001548767]|not provided [RCV002568304] Chr11:6633952 [GRCh38]
Chr11:6655183 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.4479G>A (p.Gly1493=) single nucleotide variant not provided [RCV001576736] Chr11:6630315 [GRCh38]
Chr11:6651546 [GRCh37]
Chr11:11p15.4		 benign|likely benign
NM_003737.4(DCHS1):c.6251-35G>C single nucleotide variant not provided [RCV001569405] Chr11:6626700 [GRCh38]
Chr11:6647931 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.8307G>A (p.Ala2769=) single nucleotide variant not provided [RCV001611204] Chr11:6623369 [GRCh38]
Chr11:6644600 [GRCh37]
Chr11:11p15.4		 benign
NM_003737.4(DCHS1):c.5372-39G>A single nucleotide variant not provided [RCV001669518] Chr11:6627706 [GRCh38]
Chr11:6648937 [GRCh37]
Chr11:11p15.4		 benign
NM_003737.4(DCHS1):c.8247G>C (p.Gly2749=) single nucleotide variant not provided [RCV000994563] Chr11:6623429 [GRCh38]
Chr11:6644660 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.4819T>C (p.Leu1607=) single nucleotide variant not provided [RCV001581330] Chr11:6629888 [GRCh38]
Chr11:6651119 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.6980A>G (p.Tyr2327Cys) single nucleotide variant not provided [RCV001582178] Chr11:6625364 [GRCh38]
Chr11:6646595 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.5371+249G>A single nucleotide variant not provided [RCV001568122] Chr11:6628372 [GRCh38]
Chr11:6649603 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.7192G>T (p.Val2398Phe) single nucleotide variant not provided [RCV001568768] Chr11:6624823 [GRCh38]
Chr11:6646054 [GRCh37]
Chr11:11p15.4		 conflicting interpretations of pathogenicity|uncertain significance
NM_003737.4(DCHS1):c.258C>T (p.Ser86=) single nucleotide variant not provided [RCV000929199] Chr11:6641356 [GRCh38]
Chr11:6662587 [GRCh37]
Chr11:11p15.4		 benign
NM_003737.4(DCHS1):c.186C>T (p.Gly62=) single nucleotide variant not provided [RCV000880667] Chr11:6641428 [GRCh38]
Chr11:6662659 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.8502C>T (p.His2834=) single nucleotide variant not provided [RCV000879042] Chr11:6623174 [GRCh38]
Chr11:6644405 [GRCh37]
Chr11:11p15.4		 benign|likely benign
NM_003737.4(DCHS1):c.3927G>A (p.Val1309=) single nucleotide variant not provided [RCV000924889] Chr11:6631056 [GRCh38]
Chr11:6652287 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.7329C>T (p.Asp2443=) single nucleotide variant not provided [RCV000899531] Chr11:6624347 [GRCh38]
Chr11:6645578 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.759G>A (p.Pro253=) single nucleotide variant not provided [RCV000899532] Chr11:6640855 [GRCh38]
Chr11:6662086 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.1798-10C>T single nucleotide variant not provided [RCV000884339] Chr11:6634316 [GRCh38]
Chr11:6655547 [GRCh37]
Chr11:11p15.4		 benign
NM_003737.4(DCHS1):c.5503C>T (p.Leu1835Phe) single nucleotide variant not provided [RCV000923288] Chr11:6627536 [GRCh38]
Chr11:6648767 [GRCh37]
Chr11:11p15.4		 likely benign|conflicting interpretations of pathogenicity
NM_003737.4(DCHS1):c.5604G>A (p.Val1868=) single nucleotide variant not provided [RCV000972475] Chr11:6627435 [GRCh38]
Chr11:6648666 [GRCh37]
Chr11:11p15.4		 benign|likely benign
NM_003737.4(DCHS1):c.543G>A (p.Ala181=) single nucleotide variant not provided [RCV000972476]|not specified [RCV001701275] Chr11:6641071 [GRCh38]
Chr11:6662302 [GRCh37]
Chr11:11p15.4		 benign|likely benign
NM_003737.4(DCHS1):c.9186C>T (p.Ala3062=) single nucleotide variant not provided [RCV000926087] Chr11:6622490 [GRCh38]
Chr11:6643721 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.3184C>G (p.Arg1062Gly) single nucleotide variant not provided [RCV000968669] Chr11:6632328 [GRCh38]
Chr11:6653559 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.933G>C (p.Thr311=) single nucleotide variant not provided [RCV000936933] Chr11:6640681 [GRCh38]
Chr11:6661912 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.4473C>T (p.Arg1491=) single nucleotide variant not provided [RCV000905772] Chr11:6630321 [GRCh38]
Chr11:6651552 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.7311A>G (p.Thr2437=) single nucleotide variant not provided [RCV000906306] Chr11:6624365 [GRCh38]
Chr11:6645596 [GRCh37]
Chr11:11p15.4		 benign
NM_003737.4(DCHS1):c.1794G>T (p.Leu598=) single nucleotide variant not provided [RCV000879302] Chr11:6639820 [GRCh38]
Chr11:6661051 [GRCh37]
Chr11:11p15.4		 benign|likely benign
NM_003737.4(DCHS1):c.6363A>G (p.Thr2121=) single nucleotide variant not provided [RCV000969599] Chr11:6626553 [GRCh38]
Chr11:6647784 [GRCh37]
Chr11:11p15.4		 benign
NM_003737.4(DCHS1):c.4685C>T (p.Pro1562Leu) single nucleotide variant not provided [RCV000969600] Chr11:6630109 [GRCh38]
Chr11:6651340 [GRCh37]
Chr11:11p15.4		 benign|likely benign
NM_003737.4(DCHS1):c.8269G>A (p.Ala2757Thr) single nucleotide variant not provided [RCV000970468] Chr11:6623407 [GRCh38]
Chr11:6644638 [GRCh37]
Chr11:11p15.4		 benign|likely benign
NM_003737.4(DCHS1):c.7224C>T (p.Asn2408=) single nucleotide variant not provided [RCV000976184] Chr11:6624791 [GRCh38]
Chr11:6646022 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.978G>A (p.Arg326=) single nucleotide variant not provided [RCV000884568] Chr11:6640636 [GRCh38]
Chr11:6661867 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.4530G>T (p.Leu1510=) single nucleotide variant not provided [RCV000926164] Chr11:6630264 [GRCh38]
Chr11:6651495 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.7371C>T (p.His2457=) single nucleotide variant not provided [RCV000968667] Chr11:6624305 [GRCh38]
Chr11:6645536 [GRCh37]
Chr11:11p15.4		 benign
NM_003737.4(DCHS1):c.5035+10G>A single nucleotide variant not provided [RCV000968668] Chr11:6629662 [GRCh38]
Chr11:6650893 [GRCh37]
Chr11:11p15.4		 benign
NM_003737.4(DCHS1):c.8106T>C (p.His2702=) single nucleotide variant not provided [RCV000937774] Chr11:6623570 [GRCh38]
Chr11:6644801 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.1134C>G (p.Ala378=) single nucleotide variant not provided [RCV000983347] Chr11:6640480 [GRCh38]
Chr11:6661711 [GRCh37]
Chr11:11p15.4		 benign
NM_003737.4(DCHS1):c.2517A>G (p.Leu839=) single nucleotide variant not provided [RCV000983346] Chr11:6632995 [GRCh38]
Chr11:6654226 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.5127G>A (p.Leu1709=) single nucleotide variant not provided [RCV000881361]|not specified [RCV001700329] Chr11:6629486 [GRCh38]
Chr11:6650717 [GRCh37]
Chr11:11p15.4		 benign
NM_003737.4(DCHS1):c.4470G>C (p.Ala1490=) single nucleotide variant not provided [RCV000881362]|not specified [RCV001700330] Chr11:6630324 [GRCh38]
Chr11:6651555 [GRCh37]
Chr11:11p15.4		 benign|likely benign
NM_003737.4(DCHS1):c.1122A>G (p.Gln374=) single nucleotide variant not provided [RCV000968207]|not specified [RCV001701271] Chr11:6640492 [GRCh38]
Chr11:6661723 [GRCh37]
Chr11:11p15.4		 benign
NM_003737.4(DCHS1):c.699C>T (p.Pro233=) single nucleotide variant not provided [RCV000969054] Chr11:6640915 [GRCh38]
Chr11:6662146 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.1047T>G (p.Thr349=) single nucleotide variant not provided [RCV000981475] Chr11:6640567 [GRCh38]
Chr11:6661798 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.2292C>T (p.Asp764=) single nucleotide variant not provided [RCV000926448] Chr11:6633575 [GRCh38]
Chr11:6654806 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.4938G>T (p.Ala1646=) single nucleotide variant not provided [RCV000882265] Chr11:6629769 [GRCh38]
Chr11:6651000 [GRCh37]
Chr11:11p15.4		 benign|likely benign
NM_003737.4(DCHS1):c.2700G>A (p.Thr900=) single nucleotide variant not provided [RCV000910218] Chr11:6632812 [GRCh38]
Chr11:6654043 [GRCh37]
Chr11:11p15.4		 benign
NM_003737.4(DCHS1):c.3481+9A>T single nucleotide variant Van Maldergem syndrome 1 [RCV002495429]|not provided [RCV000897058] Chr11:6632022 [GRCh38]
Chr11:6653253 [GRCh37]
Chr11:11p15.4		 benign|likely benign
NM_003737.4(DCHS1):c.9018T>C (p.Thr3006=) single nucleotide variant not provided [RCV000917858] Chr11:6622658 [GRCh38]
Chr11:6643889 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.9834A>G (p.Ser3278=) single nucleotide variant not provided [RCV000950199] Chr11:6621842 [GRCh38]
Chr11:6643073 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.6479C>T (p.Thr2160Ile) single nucleotide variant not provided [RCV000950200]|not specified [RCV001700516] Chr11:6626266 [GRCh38]
Chr11:6647497 [GRCh37]
Chr11:11p15.4		 benign|likely benign
NM_003737.4(DCHS1):c.952C>T (p.Arg318Trp) single nucleotide variant not provided [RCV000963942] Chr11:6640662 [GRCh38]
Chr11:6661893 [GRCh37]
Chr11:11p15.4		 benign|likely benign
NM_003737.4(DCHS1):c.7452G>A (p.Leu2484=) single nucleotide variant not provided [RCV000901644] Chr11:6624224 [GRCh38]
Chr11:6645455 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.2691T>G (p.Pro897=) single nucleotide variant not provided [RCV000920146] Chr11:6632821 [GRCh38]
Chr11:6654052 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.6792G>A (p.Thr2264=) single nucleotide variant not provided [RCV000953289]|not specified [RCV001699474] Chr11:6625667 [GRCh38]
Chr11:6646898 [GRCh37]
Chr11:11p15.4		 benign
NM_003737.4(DCHS1):c.7257C>T (p.Ala2419=) single nucleotide variant not provided [RCV000914817] Chr11:6624758 [GRCh38]
Chr11:6645989 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.9797C>T (p.Pro3266Leu) single nucleotide variant not provided [RCV000943150] Chr11:6621879 [GRCh38]
Chr11:6643110 [GRCh37]
Chr11:11p15.4		 likely benign|conflicting interpretations of pathogenicity
NM_003737.4(DCHS1):c.8196C>T (p.Asp2732=) single nucleotide variant not provided [RCV000881486] Chr11:6623480 [GRCh38]
Chr11:6644711 [GRCh37]
Chr11:11p15.4		 benign
NM_003737.4(DCHS1):c.8172C>T (p.Leu2724=) single nucleotide variant not provided [RCV000980977] Chr11:6623504 [GRCh38]
Chr11:6644735 [GRCh37]
Chr11:11p15.4		 benign
NM_003737.4(DCHS1):c.1675G>T (p.Ala559Ser) single nucleotide variant not provided [RCV000969053] Chr11:6639939 [GRCh38]
Chr11:6661170 [GRCh37]
Chr11:11p15.4		 benign
NM_003737.4(DCHS1):c.5328T>A (p.Asp1776Glu) single nucleotide variant not provided [RCV000943094] Chr11:6628664 [GRCh38]
Chr11:6649895 [GRCh37]
Chr11:11p15.4		 benign
NM_003737.4(DCHS1):c.5619G>A (p.Leu1873=) single nucleotide variant not provided [RCV000898725] Chr11:6627420 [GRCh38]
Chr11:6648651 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.1545C>T (p.Gly515=) single nucleotide variant not provided [RCV000898726] Chr11:6640069 [GRCh38]
Chr11:6661300 [GRCh37]
Chr11:11p15.4		 benign
NM_003737.4(DCHS1):c.4476C>G (p.Thr1492=) single nucleotide variant not provided [RCV000880921] Chr11:6630318 [GRCh38]
Chr11:6651549 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.1524C>T (p.Val508=) single nucleotide variant not provided [RCV000906160] Chr11:6640090 [GRCh38]
Chr11:6661321 [GRCh37]
Chr11:11p15.4		 benign
NM_003737.4(DCHS1):c.8292A>G (p.Thr2764=) single nucleotide variant not provided [RCV000907787] Chr11:6623384 [GRCh38]
Chr11:6644615 [GRCh37]
Chr11:11p15.4		 benign|likely benign
NM_003737.4(DCHS1):c.5856T>C (p.Asp1952=) single nucleotide variant not provided [RCV000893748] Chr11:6627183 [GRCh38]
Chr11:6648414 [GRCh37]
Chr11:11p15.4		 benign|likely benign
NM_003737.4(DCHS1):c.7431C>T (p.Asp2477=) single nucleotide variant not provided [RCV000891525] Chr11:6624245 [GRCh38]
Chr11:6645476 [GRCh37]
Chr11:11p15.4		 benign
NM_003737.4(DCHS1):c.4835G>A (p.Arg1612Gln) single nucleotide variant not provided [RCV000976664] Chr11:6629872 [GRCh38]
Chr11:6651103 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.9269A>T (p.Tyr3090Phe) single nucleotide variant not provided [RCV000941788] Chr11:6622407 [GRCh38]
Chr11:6643638 [GRCh37]
Chr11:11p15.4		 likely benign|conflicting interpretations of pathogenicity
NM_003737.4(DCHS1):c.5036-6C>T single nucleotide variant not provided [RCV000894934] Chr11:6629583 [GRCh38]
Chr11:6650814 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.6515T>A (p.Leu2172Gln) single nucleotide variant not provided [RCV000962109]|not specified [RCV001701267] Chr11:6626230 [GRCh38]
Chr11:6647461 [GRCh37]
Chr11:11p15.4		 benign
NM_003737.4(DCHS1):c.6365-6G>A single nucleotide variant Inborn genetic diseases [RCV002550560]|not provided [RCV000981324] Chr11:6626386 [GRCh38]
Chr11:6647617 [GRCh37]
Chr11:11p15.4		 benign|likely benign
NM_003737.4(DCHS1):c.2595G>A (p.Val865=) single nucleotide variant not provided [RCV000994565] Chr11:6632917 [GRCh38]
Chr11:6654148 [GRCh37]
Chr11:11p15.4		 conflicting interpretations of pathogenicity|uncertain significance
NM_003737.4(DCHS1):c.1357C>T (p.Arg453Trp) single nucleotide variant not provided [RCV000994566] Chr11:6640257 [GRCh38]
Chr11:6661488 [GRCh37]
Chr11:11p15.4		 uncertain significance
GRCh37/hg19 11p15.4(chr11:5896551-6719852)x3 copy number gain not provided [RCV000849971] Chr11:5896551..6719852 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.3662G>A (p.Gly1221Asp) single nucleotide variant not provided [RCV000994564] Chr11:6631629 [GRCh38]
Chr11:6652860 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.5671A>T (p.Thr1891Ser) single nucleotide variant not provided [RCV001223946] Chr11:6627368 [GRCh38]
Chr11:6648599 [GRCh37]
Chr11:11p15.4		 uncertain significance
GRCh37/hg19 11p15.4(chr11:6607967-6796286)x3 copy number gain not provided [RCV000846249] Chr11:6607967..6796286 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.1433G>A (p.Arg478Gln) single nucleotide variant not provided [RCV003106507] Chr11:6640181 [GRCh38]
Chr11:6661412 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.6217A>G (p.Ser2073Gly) single nucleotide variant not provided [RCV003106481] Chr11:6626822 [GRCh38]
Chr11:6648053 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.1504C>G (p.Gln502Glu) single nucleotide variant not provided [RCV001575864] Chr11:6640110 [GRCh38]
Chr11:6661341 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.3686G>A (p.Arg1229His) single nucleotide variant Inborn genetic diseases [RCV002568448]|not provided [RCV001568675] Chr11:6631397 [GRCh38]
Chr11:6652628 [GRCh37]
Chr11:11p15.4		 likely benign|uncertain significance
NM_003737.4(DCHS1):c.-120-32G>C single nucleotide variant not provided [RCV001545262] Chr11:6641765 [GRCh38]
Chr11:6662996 [GRCh37]
Chr11:11p15.4		 likely benign
NC_000011.9:g.(?_6625502)_(6662844_?)dup duplication not provided [RCV003107734] Chr11:6625502..6662844 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.*247CTC[1] microsatellite not provided [RCV001569569] Chr11:6621527..6621529 [GRCh38]
Chr11:6642758..6642760 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.76CTG[7] (p.Leu33del) microsatellite not provided [RCV001546676]|not specified [RCV001699586] Chr11:6641515..6641517 [GRCh38]
Chr11:6662746..6662748 [GRCh37]
Chr11:11p15.4		 benign|likely benign
NM_003737.4(DCHS1):c.4459_4461delinsTTT (p.Arg1487Phe) indel not provided [RCV001551335] Chr11:6630333..6630335 [GRCh38]
Chr11:6651564..6651566 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.5161+234T>C single nucleotide variant not provided [RCV001568193] Chr11:6629218 [GRCh38]
Chr11:6650449 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.2225T>A (p.Leu742Ter) single nucleotide variant Van Maldergem syndrome 1 [RCV001533165] Chr11:6633642 [GRCh38]
Chr11:6654873 [GRCh37]
Chr11:11p15.4		 pathogenic
NM_003737.4(DCHS1):c.2768C>T (p.Ser923Leu) single nucleotide variant not provided [RCV001585288] Chr11:6632744 [GRCh38]
Chr11:6653975 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.6364+45G>A single nucleotide variant not provided [RCV001549700] Chr11:6626507 [GRCh38]
Chr11:6647738 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.3798G>A (p.Leu1266=) single nucleotide variant not provided [RCV001665034]|not specified [RCV001700797] Chr11:6631185 [GRCh38]
Chr11:6652416 [GRCh37]
Chr11:11p15.4		 benign
NM_003737.4(DCHS1):c.6251-35G>A single nucleotide variant not provided [RCV001645153] Chr11:6626700 [GRCh38]
Chr11:6647931 [GRCh37]
Chr11:11p15.4		 benign
NM_003737.4(DCHS1):c.4241G>T (p.Gly1414Val) single nucleotide variant not provided [RCV001598566] Chr11:6630553 [GRCh38]
Chr11:6651784 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.2635C>T (p.Arg879Trp) single nucleotide variant Inborn genetic diseases [RCV002568358]|not provided [RCV001556176] Chr11:6632877 [GRCh38]
Chr11:6654108 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.8186A>T (p.His2729Leu) single nucleotide variant not provided [RCV001723353] Chr11:6623490 [GRCh38]
Chr11:6644721 [GRCh37]
Chr11:11p15.4		 likely benign|uncertain significance
NM_003737.4(DCHS1):c.3546G>A (p.Gln1182=) single nucleotide variant not provided [RCV001550751]|not specified [RCV001701195] Chr11:6631745 [GRCh38]
Chr11:6652976 [GRCh37]
Chr11:11p15.4		 benign|likely benign
NM_003737.4(DCHS1):c.5035+10dup duplication not provided [RCV001699681] Chr11:6629655..6629656 [GRCh38]
Chr11:6650886..6650887 [GRCh37]
Chr11:11p15.4		 benign|likely benign
NM_003737.4(DCHS1):c.7076G>A (p.Arg2359His) single nucleotide variant Inborn genetic diseases [RCV002569089]|not provided [RCV001577192] Chr11:6625268 [GRCh38]
Chr11:6646499 [GRCh37]
Chr11:11p15.4		 likely benign|uncertain significance
NM_003737.4(DCHS1):c.2127C>A (p.Ala709=) single nucleotide variant not provided [RCV001699898] Chr11:6633880 [GRCh38]
Chr11:6655111 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.2668A>G (p.Asn890Asp) single nucleotide variant Inborn genetic diseases [RCV002573280]|not provided [RCV001584777] Chr11:6632844 [GRCh38]
Chr11:6654075 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.9558C>G (p.Leu3186=) single nucleotide variant not provided [RCV001577667] Chr11:6622118 [GRCh38]
Chr11:6643349 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.5371+248C>T single nucleotide variant not provided [RCV001557699] Chr11:6628373 [GRCh38]
Chr11:6649604 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.8637C>T (p.Ser2879=) single nucleotide variant not provided [RCV001727951]|not specified [RCV001700558] Chr11:6623039 [GRCh38]
Chr11:6644270 [GRCh37]
Chr11:11p15.4		 benign|likely benign
NM_003737.4(DCHS1):c.3481+93C>T single nucleotide variant not provided [RCV001567864] Chr11:6631938 [GRCh38]
Chr11:6653169 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.5371+139T>C single nucleotide variant not provided [RCV001559454] Chr11:6628482 [GRCh38]
Chr11:6649713 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.6251-55C>A single nucleotide variant not provided [RCV001673723] Chr11:6626720 [GRCh38]
Chr11:6647951 [GRCh37]
Chr11:11p15.4		 benign
NM_003737.4(DCHS1):c.9295C>T (p.Leu3099=) single nucleotide variant not provided [RCV000896394] Chr11:6622381 [GRCh38]
Chr11:6643612 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.9333G>T (p.Gly3111=) single nucleotide variant not provided [RCV000914479] Chr11:6622343 [GRCh38]
Chr11:6643574 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.4080G>A (p.Ala1360=) single nucleotide variant not provided [RCV000907161] Chr11:6630714 [GRCh38]
Chr11:6651945 [GRCh37]
Chr11:11p15.4		 likely benign|conflicting interpretations of pathogenicity
NM_003737.4(DCHS1):c.1058G>A (p.Arg353Gln) single nucleotide variant not provided [RCV000885356] Chr11:6640556 [GRCh38]
Chr11:6661787 [GRCh37]
Chr11:11p15.4		 benign|likely benign
NM_003737.4(DCHS1):c.340C>T (p.Arg114Cys) single nucleotide variant not provided [RCV000885357] Chr11:6641274 [GRCh38]
Chr11:6662505 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.1071C>T (p.Asp357=) single nucleotide variant not provided [RCV000982199] Chr11:6640543 [GRCh38]
Chr11:6661774 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.8370T>C (p.Ala2790=) single nucleotide variant not provided [RCV000940387] Chr11:6623306 [GRCh38]
Chr11:6644537 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.4608C>T (p.Val1536=) single nucleotide variant not provided [RCV000914374]|not specified [RCV001701357] Chr11:6630186 [GRCh38]
Chr11:6651417 [GRCh37]
Chr11:11p15.4		 benign|likely benign
NM_003737.4(DCHS1):c.1758A>G (p.Ser586=) single nucleotide variant not provided [RCV000931760] Chr11:6639856 [GRCh38]
Chr11:6661087 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.8319T>C (p.Phe2773=) single nucleotide variant not provided [RCV000929999] Chr11:6623357 [GRCh38]
Chr11:6644588 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.9744T>C (p.Ala3248=) single nucleotide variant not provided [RCV000879340] Chr11:6621932 [GRCh38]
Chr11:6643163 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.6255T>A (p.Thr2085=) single nucleotide variant not provided [RCV000930613] Chr11:6626661 [GRCh38]
Chr11:6647892 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.5882C>T (p.Pro1961Leu) single nucleotide variant not provided [RCV000968206]|not specified [RCV001700957] Chr11:6627157 [GRCh38]
Chr11:6648388 [GRCh37]
Chr11:11p15.4		 benign
NM_003737.4(DCHS1):c.4051T>C (p.Leu1351=) single nucleotide variant not provided [RCV000897192] Chr11:6630743 [GRCh38]
Chr11:6651974 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.2975G>A (p.Gly992Glu) single nucleotide variant not provided [RCV000909452] Chr11:6632537 [GRCh38]
Chr11:6653768 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.8897G>A (p.Arg2966His) single nucleotide variant not provided [RCV000910286] Chr11:6622779 [GRCh38]
Chr11:6644010 [GRCh37]
Chr11:11p15.4		 benign
NM_003737.4(DCHS1):c.4380G>A (p.Ala1460=) single nucleotide variant not provided [RCV000938404] Chr11:6630414 [GRCh38]
Chr11:6651645 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.2755C>T (p.Leu919Phe) single nucleotide variant Inborn genetic diseases [RCV002548389]|not provided [RCV000974259] Chr11:6632757 [GRCh38]
Chr11:6653988 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.9243C>T (p.Cys3081=) single nucleotide variant not provided [RCV000897963]|not specified [RCV001701474] Chr11:6622433 [GRCh38]
Chr11:6643664 [GRCh37]
Chr11:11p15.4		 benign
NM_003737.4(DCHS1):c.2016G>C (p.Lys672Asn) single nucleotide variant not provided [RCV001760539] Chr11:6633991 [GRCh38]
Chr11:6655222 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.8706G>A (p.Val2902=) single nucleotide variant not provided [RCV000895018] Chr11:6622970 [GRCh38]
Chr11:6644201 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.3176C>A (p.Ala1059Glu) single nucleotide variant not provided [RCV000895798] Chr11:6632336 [GRCh38]
Chr11:6653567 [GRCh37]
Chr11:11p15.4		 benign|likely benign
NM_003737.4(DCHS1):c.2218+10C>T single nucleotide variant not provided [RCV000909544] Chr11:6633779 [GRCh38]
Chr11:6655010 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.5924G>A (p.Ser1975Asn) single nucleotide variant not provided [RCV000899600] Chr11:6627115 [GRCh38]
Chr11:6648346 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.8943A>G (p.Leu2981=) single nucleotide variant not provided [RCV000931456] Chr11:6622733 [GRCh38]
Chr11:6643964 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.7839G>A (p.Glu2613=) single nucleotide variant not provided [RCV000953454] Chr11:6623837 [GRCh38]
Chr11:6645068 [GRCh37]
Chr11:11p15.4		 benign
NM_003737.4(DCHS1):c.7075C>T (p.Arg2359Cys) single nucleotide variant not provided [RCV000953455] Chr11:6625269 [GRCh38]
Chr11:6646500 [GRCh37]
Chr11:11p15.4		 benign
NM_003737.4(DCHS1):c.6272G>C (p.Arg2091Thr) single nucleotide variant not provided [RCV000953456]|not specified [RCV001701373] Chr11:6626644 [GRCh38]
Chr11:6647875 [GRCh37]
Chr11:11p15.4		 benign
NM_003737.4(DCHS1):c.921C>T (p.Ile307=) single nucleotide variant not provided [RCV000898584] Chr11:6640693 [GRCh38]
Chr11:6661924 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.7348del (p.Val2450fs) deletion not provided [RCV001169895] Chr11:6624328 [GRCh38]
Chr11:6645559 [GRCh37]
Chr11:11p15.4		 likely pathogenic
NM_003737.4(DCHS1):c.4686C>G (p.Pro1562=) single nucleotide variant not provided [RCV000933650] Chr11:6630108 [GRCh38]
Chr11:6651339 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.1986+9G>A single nucleotide variant not provided [RCV000913496] Chr11:6634109 [GRCh38]
Chr11:6655340 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.3773-4C>G single nucleotide variant not provided [RCV000912364] Chr11:6631214 [GRCh38]
Chr11:6652445 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.4392C>T (p.Asp1464=) single nucleotide variant not provided [RCV000956895] Chr11:6630402 [GRCh38]
Chr11:6651633 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.2953C>T (p.Arg985Trp) single nucleotide variant not provided [RCV000956897] Chr11:6632559 [GRCh38]
Chr11:6653790 [GRCh37]
Chr11:11p15.4		 benign
NM_003737.4(DCHS1):c.8404C>T (p.Leu2802=) single nucleotide variant not provided [RCV000889691] Chr11:6623272 [GRCh38]
Chr11:6644503 [GRCh37]
Chr11:11p15.4		 benign|likely benign
NM_003737.4(DCHS1):c.596C>G (p.Pro199Arg) single nucleotide variant not provided [RCV000956898]|not specified [RCV001727827] Chr11:6641018 [GRCh38]
Chr11:6662249 [GRCh37]
Chr11:11p15.4		 benign
NM_003737.4(DCHS1):c.9609C>G (p.Pro3203=) single nucleotide variant not provided [RCV000889510] Chr11:6622067 [GRCh38]
Chr11:6643298 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.6732G>A (p.Arg2244=) single nucleotide variant not provided [RCV000956893] Chr11:6625727 [GRCh38]
Chr11:6646958 [GRCh37]
Chr11:11p15.4		 benign
NM_003737.4(DCHS1):c.3263C>T (p.Thr1088Ile) single nucleotide variant not provided [RCV000956896] Chr11:6632249 [GRCh38]
Chr11:6653480 [GRCh37]
Chr11:11p15.4		 benign|conflicting interpretations of pathogenicity
NM_003737.4(DCHS1):c.6495C>T (p.Asn2165=) single nucleotide variant not provided [RCV000891273] Chr11:6626250 [GRCh38]
Chr11:6647481 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.*175G>A single nucleotide variant not provided [RCV001556718] Chr11:6621604 [GRCh38]
Chr11:6642835 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.5686G>A (p.Ala1896Thr) single nucleotide variant Inborn genetic diseases [RCV002901273] Chr11:6627353 [GRCh38]
Chr11:6648584 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.7385G>A (p.Arg2462Gln) single nucleotide variant not provided [RCV001595257] Chr11:6624291 [GRCh38]
Chr11:6645522 [GRCh37]
Chr11:11p15.4		 benign
NM_003737.4(DCHS1):c.546A>G (p.Leu182=) single nucleotide variant not provided [RCV001577988] Chr11:6641068 [GRCh38]
Chr11:6662299 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.5161+36G>A single nucleotide variant not provided [RCV001570560] Chr11:6629416 [GRCh38]
Chr11:6650647 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.3676-101del deletion not provided [RCV001558072] Chr11:6631508 [GRCh38]
Chr11:6652739 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.1398C>T (p.Asn466=) single nucleotide variant not provided [RCV001582068] Chr11:6640216 [GRCh38]
Chr11:6661447 [GRCh37]
Chr11:11p15.4		 benign|likely benign
NM_003737.4(DCHS1):c.9001C>A (p.His3001Asn) single nucleotide variant not provided [RCV001555280] Chr11:6622675 [GRCh38]
Chr11:6643906 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.3370G>A (p.Val1124Met) single nucleotide variant Inborn genetic diseases [RCV002570754]|not provided [RCV001565002] Chr11:6632142 [GRCh38]
Chr11:6653373 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.6133C>T (p.Arg2045Cys) single nucleotide variant Inborn genetic diseases [RCV002568167]|not provided [RCV001529543] Chr11:6626906 [GRCh38]
Chr11:6648137 [GRCh37]
Chr11:11p15.4		 likely benign|uncertain significance
NM_003737.4(DCHS1):c.7614T>G (p.Ala2538=) single nucleotide variant not provided [RCV001637242] Chr11:6624062 [GRCh38]
Chr11:6645293 [GRCh37]
Chr11:11p15.4		 benign
NM_003737.4(DCHS1):c.1987-13C>T single nucleotide variant not provided [RCV001696541] Chr11:6634033 [GRCh38]
Chr11:6655264 [GRCh37]
Chr11:11p15.4		 benign
NM_003737.4(DCHS1):c.6863-19C>A single nucleotide variant not provided [RCV001596387] Chr11:6625500 [GRCh38]
Chr11:6646731 [GRCh37]
Chr11:11p15.4		 benign|likely benign
NM_003737.4(DCHS1):c.3481+93C>G single nucleotide variant not provided [RCV001586906] Chr11:6631938 [GRCh38]
Chr11:6653169 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.5161+55T>G single nucleotide variant not provided [RCV001549310] Chr11:6629397 [GRCh38]
Chr11:6650628 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.3481+30G>C single nucleotide variant not provided [RCV001620738] Chr11:6632001 [GRCh38]
Chr11:6653232 [GRCh37]
Chr11:11p15.4		 benign
NM_003737.4(DCHS1):c.6250+42G>A single nucleotide variant not provided [RCV001695077] Chr11:6626747 [GRCh38]
Chr11:6647978 [GRCh37]
Chr11:11p15.4		 benign
NM_003737.4(DCHS1):c.-120-242C>T single nucleotide variant not provided [RCV001677256] Chr11:6641975 [GRCh38]
Chr11:6663206 [GRCh37]
Chr11:11p15.4		 benign
NM_003737.4(DCHS1):c.9648G>A (p.Val3216=) single nucleotide variant not provided [RCV001092694] Chr11:6622028 [GRCh38]
Chr11:6643259 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.8480G>C (p.Arg2827Pro) single nucleotide variant not provided [RCV001710167] Chr11:6623196 [GRCh38]
Chr11:6644427 [GRCh37]
Chr11:11p15.4		 benign
NM_003737.4(DCHS1):c.-120-141G>A single nucleotide variant not provided [RCV001644346] Chr11:6641874 [GRCh38]
Chr11:6663105 [GRCh37]
Chr11:11p15.4		 benign
NM_003737.4(DCHS1):c.2455+173_2456-171del deletion not provided [RCV001671930] Chr11:6633227..6633239 [GRCh38]
Chr11:6654458..6654470 [GRCh37]
Chr11:11p15.4		 benign
NM_003737.4(DCHS1):c.7146+94G>T single nucleotide variant not provided [RCV001587868] Chr11:6625104 [GRCh38]
Chr11:6646335 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.5161+59T>C single nucleotide variant not provided [RCV001707199] Chr11:6629393 [GRCh38]
Chr11:6650624 [GRCh37]
Chr11:11p15.4		 benign
NM_003737.4(DCHS1):c.4050G>C (p.Leu1350=) single nucleotide variant not provided [RCV001666183] Chr11:6630744 [GRCh38]
Chr11:6651975 [GRCh37]
Chr11:11p15.4		 benign
NM_003737.4(DCHS1):c.2548C>T (p.Arg850Cys) single nucleotide variant Inborn genetic diseases [RCV002568414]|not provided [RCV001562045] Chr11:6632964 [GRCh38]
Chr11:6654195 [GRCh37]
Chr11:11p15.4		 benign|likely benign|uncertain significance
NM_003737.4(DCHS1):c.3481+33T>C single nucleotide variant not provided [RCV001690466] Chr11:6631998 [GRCh38]
Chr11:6653229 [GRCh37]
Chr11:11p15.4		 benign
NM_003737.4(DCHS1):c.76CTG[9] (p.Leu33dup) microsatellite not provided [RCV001572882]|not specified [RCV001699820] Chr11:6641514..6641515 [GRCh38]
Chr11:6662745..6662746 [GRCh37]
Chr11:11p15.4		 benign|likely benign
NM_003737.4(DCHS1):c.2123G>A (p.Arg708His) single nucleotide variant not provided [RCV001573970] Chr11:6633884 [GRCh38]
Chr11:6655115 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.2455+30T>C single nucleotide variant not provided [RCV001671642] Chr11:6633382 [GRCh38]
Chr11:6654613 [GRCh37]
Chr11:11p15.4		 benign
NM_003737.4(DCHS1):c.643C>G (p.Arg215Gly) single nucleotide variant not provided [RCV001092695] Chr11:6640971 [GRCh38]
Chr11:6662202 [GRCh37]
Chr11:11p15.4		 uncertain significance
GRCh37/hg19 11p15.5-13(chr11:235934-33826995)x3 copy number gain not provided [RCV001006372] Chr11:235934..33826995 [GRCh37]
Chr11:11p15.5-13		 pathogenic
NM_003737.4(DCHS1):c.5972G>A (p.Arg1991His) single nucleotide variant Inborn genetic diseases [RCV002570597]|Van Maldergem syndrome 1 [RCV001255796]|not provided [RCV001528541] Chr11:6627067 [GRCh38]
Chr11:6648298 [GRCh37]
Chr11:11p15.4		 likely benign|uncertain significance
NM_003737.4(DCHS1):c.5735G>A (p.Arg1912His) single nucleotide variant Van Maldergem syndrome 1 [RCV001255822]|not provided [RCV001473311] Chr11:6627304 [GRCh38]
Chr11:6648535 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.482G>A (p.Arg161His) single nucleotide variant not provided [RCV001529727] Chr11:6641132 [GRCh38]
Chr11:6662363 [GRCh37]
Chr11:11p15.4		 uncertain significance
GRCh37/hg19 11p15.5-15.4(chr11:210300-8664358)x3 copy number gain Silver-Russell syndrome 1 [RCV001263222] Chr11:210300..8664358 [GRCh37]
Chr11:11p15.5-15.4		 pathogenic
NM_003737.4(DCHS1):c.4552C>T (p.Arg1518Trp) single nucleotide variant Mitral valve prolapse, myxomatous 2 [RCV001262924]|not provided [RCV001664790] Chr11:6630242 [GRCh38]
Chr11:6651473 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.3416G>C (p.Arg1139Pro) single nucleotide variant Mitral valve prolapse, myxomatous 2 [RCV001336071] Chr11:6632096 [GRCh38]
Chr11:6653327 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.5809G>T (p.Ala1937Ser) single nucleotide variant Mitral valve prolapse, myxomatous 2 [RCV001336072]|not provided [RCV002546760] Chr11:6627230 [GRCh38]
Chr11:6648461 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.6956A>C (p.Gln2319Pro) single nucleotide variant Van Maldergem syndrome 1 [RCV001329744] Chr11:6625388 [GRCh38]
Chr11:6646619 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.994G>A (p.Val332Met) single nucleotide variant Mitral valve prolapse, myxomatous 2 [RCV001336076] Chr11:6640620 [GRCh38]
Chr11:6661851 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.590C>T (p.Pro197Leu) single nucleotide variant Van Maldergem syndrome 1 [RCV001329125]|not provided [RCV001571744] Chr11:6641024 [GRCh38]
Chr11:6662255 [GRCh37]
Chr11:11p15.4		 conflicting interpretations of pathogenicity|uncertain significance
NM_003737.4(DCHS1):c.3785A>T (p.Glu1262Val) single nucleotide variant Mitral valve prolapse, myxomatous 2 [RCV001329746] Chr11:6631198 [GRCh38]
Chr11:6652429 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.4798G>T (p.Ala1600Ser) single nucleotide variant Mitral valve prolapse, myxomatous 2 [RCV001329123] Chr11:6629909 [GRCh38]
Chr11:6651140 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.1442C>A (p.Pro481His) single nucleotide variant Mitral valve prolapse, myxomatous 2 [RCV001329121] Chr11:6640172 [GRCh38]
Chr11:6661403 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.8302C>T (p.Arg2768Cys) single nucleotide variant Inborn genetic diseases [RCV002555533]|not provided [RCV001433199] Chr11:6623374 [GRCh38]
Chr11:6644605 [GRCh37]
Chr11:11p15.4		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_003737.4(DCHS1):c.868G>T (p.Val290Leu) single nucleotide variant Van Maldergem syndrome 1 [RCV001329745] Chr11:6640746 [GRCh38]
Chr11:6661977 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.1595C>T (p.Thr532Met) single nucleotide variant not provided [RCV001354885] Chr11:6640019 [GRCh38]
Chr11:6661250 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.886C>G (p.Arg296Gly) single nucleotide variant not provided [RCV001786717] Chr11:6640728 [GRCh38]
Chr11:6661959 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.8800A>G (p.Asn2934Asp) single nucleotide variant not provided [RCV001414402] Chr11:6622876 [GRCh38]
Chr11:6644107 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.305G>A (p.Arg102His) single nucleotide variant not provided [RCV001787460] Chr11:6641309 [GRCh38]
Chr11:6662540 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.3930+40C>T single nucleotide variant not provided [RCV001536200] Chr11:6631013 [GRCh38]
Chr11:6652244 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.6257del (p.Pro2086fs) deletion Mitral valve prolapse 2 [RCV001329747] Chr11:6626659 [GRCh38]
Chr11:6647890 [GRCh37]
Chr11:11p15.4		 pathogenic
NM_003737.4(DCHS1):c.9506G>A (p.Trp3169Ter) single nucleotide variant not provided [RCV001810595] Chr11:6622170 [GRCh38]
Chr11:6643401 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.3746A>G (p.Asn1249Ser) single nucleotide variant not provided [RCV001346844] Chr11:6631337 [GRCh38]
Chr11:6652568 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.8624G>A (p.Arg2875Gln) single nucleotide variant not provided [RCV001320463] Chr11:6623052 [GRCh38]
Chr11:6644283 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.9057C>A (p.Tyr3019Ter) single nucleotide variant not provided [RCV001314268] Chr11:6622619 [GRCh38]
Chr11:6643850 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.8901G>A (p.Lys2967=) single nucleotide variant not provided [RCV001311733] Chr11:6622775 [GRCh38]
Chr11:6644006 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.6209G>T (p.Arg2070Leu) single nucleotide variant Mitral valve prolapse, myxomatous 2 [RCV001336073] Chr11:6626830 [GRCh38]
Chr11:6648061 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.6415C>T (p.Arg2139Trp) single nucleotide variant Mitral valve prolapse, myxomatous 2 [RCV001336074]|not provided [RCV001773671] Chr11:6626330 [GRCh38]
Chr11:6647561 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.6097G>A (p.Asp2033Asn) single nucleotide variant Inborn genetic diseases [RCV002543581]|not provided [RCV001311734] Chr11:6626942 [GRCh38]
Chr11:6648173 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.6403G>A (p.Glu2135Lys) single nucleotide variant not provided [RCV001810596] Chr11:6626342 [GRCh38]
Chr11:6647573 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.701C>G (p.Pro234Arg) single nucleotide variant not provided [RCV001354421] Chr11:6640913 [GRCh38]
Chr11:6662144 [GRCh37]
Chr11:11p15.4		 benign|uncertain significance
NM_003737.4(DCHS1):c.3769A>G (p.Thr1257Ala) single nucleotide variant not provided [RCV001355894] Chr11:6631314 [GRCh38]
Chr11:6652545 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.5679C>A (p.Tyr1893Ter) single nucleotide variant Mitral valve prolapse, myxomatous 2 [RCV001329124] Chr11:6627360 [GRCh38]
Chr11:6648591 [GRCh37]
Chr11:11p15.4		 pathogenic
NM_003737.4(DCHS1):c.5852G>A (p.Arg1951His) single nucleotide variant not provided [RCV001453810] Chr11:6627187 [GRCh38]
Chr11:6648418 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.1873G>A (p.Gly625Arg) single nucleotide variant not provided [RCV001442198] Chr11:6634231 [GRCh38]
Chr11:6655462 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.8884C>T (p.Arg2962Trp) single nucleotide variant not provided [RCV001528283] Chr11:6622792 [GRCh38]
Chr11:6644023 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.1160G>A (p.Arg387His) single nucleotide variant not provided [RCV001487583] Chr11:6640454 [GRCh38]
Chr11:6661685 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.2338A>G (p.Ile780Val) single nucleotide variant not provided [RCV001401493] Chr11:6633529 [GRCh38]
Chr11:6654760 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.6242C>T (p.Ala2081Val) single nucleotide variant not provided [RCV001498055] Chr11:6626797 [GRCh38]
Chr11:6648028 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.1432C>T (p.Arg478Ter) single nucleotide variant not provided [RCV001385300] Chr11:6640182 [GRCh38]
Chr11:6661413 [GRCh37]
Chr11:11p15.4		 pathogenic
NM_003737.4(DCHS1):c.1492C>T (p.Arg498Trp) single nucleotide variant not provided [RCV001397980] Chr11:6640122 [GRCh38]
Chr11:6661353 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.4687G>C (p.Ala1563Pro) single nucleotide variant Inborn genetic diseases [RCV002555564]|not provided [RCV001439495] Chr11:6630107 [GRCh38]
Chr11:6651338 [GRCh37]
Chr11:11p15.4		 likely benign|uncertain significance
NM_003737.4(DCHS1):c.7435G>A (p.Ala2479Thr) single nucleotide variant Inborn genetic diseases [RCV002554016]|not provided [RCV001410836] Chr11:6624241 [GRCh38]
Chr11:6645472 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.7646G>A (p.Arg2549Gln) single nucleotide variant not provided [RCV001457807] Chr11:6624030 [GRCh38]
Chr11:6645261 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.5160A>T (p.Thr1720=) single nucleotide variant not provided [RCV001668950] Chr11:6629453 [GRCh38]
Chr11:6650684 [GRCh37]
Chr11:11p15.4		 benign
NM_003737.4(DCHS1):c.3711G>A (p.Thr1237=) single nucleotide variant not provided [RCV001588492] Chr11:6631372 [GRCh38]
Chr11:6652603 [GRCh37]
Chr11:11p15.4		 benign|likely benign
NM_003737.4(DCHS1):c.1797+329G>A single nucleotide variant not provided [RCV001669678] Chr11:6639488 [GRCh38]
Chr11:6660719 [GRCh37]
Chr11:11p15.4		 benign
NM_003737.4(DCHS1):c.8931G>A (p.Gln2977=) single nucleotide variant not provided [RCV001716956] Chr11:6622745 [GRCh38]
Chr11:6643976 [GRCh37]
Chr11:11p15.4		 benign
NM_003737.4(DCHS1):c.2954G>A (p.Arg985Gln) single nucleotide variant not provided [RCV001665350] Chr11:6632558 [GRCh38]
Chr11:6653789 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.5543C>G (p.Ala1848Gly) single nucleotide variant Inborn genetic diseases [RCV002563329]|not provided [RCV001500117] Chr11:6627496 [GRCh38]
Chr11:6648727 [GRCh37]
Chr11:11p15.4		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_003737.4(DCHS1):c.5035+47A>G single nucleotide variant not provided [RCV001616031] Chr11:6629625 [GRCh38]
Chr11:6650856 [GRCh37]
Chr11:11p15.4		 benign
NM_003737.4(DCHS1):c.3764C>T (p.Thr1255Met) single nucleotide variant not provided [RCV001505394] Chr11:6631319 [GRCh38]
Chr11:6652550 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.6710G>A (p.Arg2237His) single nucleotide variant not provided [RCV001499723] Chr11:6625941 [GRCh38]
Chr11:6647172 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.1762C>A (p.Pro588Thr) single nucleotide variant not provided [RCV001756343] Chr11:6639852 [GRCh38]
Chr11:6661083 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.5482C>T (p.Arg1828Trp) single nucleotide variant not provided [RCV003108515] Chr11:6627557 [GRCh38]
Chr11:6648788 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.6101G>A (p.Arg2034His) single nucleotide variant not provided [RCV003109135] Chr11:6626938 [GRCh38]
Chr11:6648169 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.977G>A (p.Arg326Gln) single nucleotide variant not provided [RCV003109157] Chr11:6640637 [GRCh38]
Chr11:6661868 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.7297A>T (p.Thr2433Ser) single nucleotide variant not provided [RCV003107080] Chr11:6624379 [GRCh38]
Chr11:6645610 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.304C>T (p.Arg102Cys) single nucleotide variant not provided [RCV003109025] Chr11:6641310 [GRCh38]
Chr11:6662541 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.7300A>G (p.Ile2434Val) single nucleotide variant not provided [RCV001755201] Chr11:6624376 [GRCh38]
Chr11:6645607 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.7408G>T (p.Val2470Leu) single nucleotide variant not provided [RCV001756262] Chr11:6624268 [GRCh38]
Chr11:6645499 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.7958A>C (p.Asp2653Ala) single nucleotide variant not provided [RCV001754842] Chr11:6623718 [GRCh38]
Chr11:6644949 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.5971C>A (p.Arg1991Ser) single nucleotide variant not provided [RCV002085734] Chr11:6627068 [GRCh38]
Chr11:6648299 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.4937C>G (p.Ala1646Gly) single nucleotide variant not provided [RCV001763219] Chr11:6629770 [GRCh38]
Chr11:6651001 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.2948G>A (p.Arg983Gln) single nucleotide variant not provided [RCV001763243] Chr11:6632564 [GRCh38]
Chr11:6653795 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.9617C>T (p.Thr3206Ile) single nucleotide variant not provided [RCV001754378] Chr11:6622059 [GRCh38]
Chr11:6643290 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.7124C>G (p.Ala2375Gly) single nucleotide variant not provided [RCV001770981] Chr11:6625220 [GRCh38]
Chr11:6646451 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.4406A>G (p.Asn1469Ser) single nucleotide variant not provided [RCV001765122] Chr11:6630388 [GRCh38]
Chr11:6651619 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.8925G>A (p.Met2975Ile) single nucleotide variant not provided [RCV001767467] Chr11:6622751 [GRCh38]
Chr11:6643982 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.3032C>T (p.Ser1011Leu) single nucleotide variant not provided [RCV001752480] Chr11:6632480 [GRCh38]
Chr11:6653711 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.6232C>T (p.Arg2078Cys) single nucleotide variant not provided [RCV001752481] Chr11:6626807 [GRCh38]
Chr11:6648038 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.5911C>T (p.Arg1971Cys) single nucleotide variant not provided [RCV001763895] Chr11:6627128 [GRCh38]
Chr11:6648359 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.613C>A (p.Pro205Thr) single nucleotide variant not provided [RCV001774388] Chr11:6641001 [GRCh38]
Chr11:6662232 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.5363G>A (p.Arg1788His) single nucleotide variant not provided [RCV001772944] Chr11:6628629 [GRCh38]
Chr11:6649860 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.7376C>T (p.Ala2459Val) single nucleotide variant not provided [RCV001767652] Chr11:6624300 [GRCh38]
Chr11:6645531 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.3377G>A (p.Arg1126Gln) single nucleotide variant not provided [RCV001773344] Chr11:6632135 [GRCh38]
Chr11:6653366 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.2851C>T (p.Arg951Trp) single nucleotide variant Inborn genetic diseases [RCV002543974]|not provided [RCV001764906] Chr11:6632661 [GRCh38]
Chr11:6653892 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.9794C>T (p.Ser3265Leu) single nucleotide variant not provided [RCV001769255] Chr11:6621882 [GRCh38]
Chr11:6643113 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.2448C>G (p.Asn816Lys) single nucleotide variant not provided [RCV001757078] Chr11:6633419 [GRCh38]
Chr11:6654650 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.4303G>A (p.Ala1435Thr) single nucleotide variant not provided [RCV001774044] Chr11:6630491 [GRCh38]
Chr11:6651722 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.6376G>A (p.Val2126Ile) single nucleotide variant not provided [RCV001774073] Chr11:6626369 [GRCh38]
Chr11:6647600 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.5590G>A (p.Val1864Met) single nucleotide variant not provided [RCV001752607] Chr11:6627449 [GRCh38]
Chr11:6648680 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.5912G>T (p.Arg1971Leu) single nucleotide variant DCHS1-related disorder [RCV001825024]|not provided [RCV001752634] Chr11:6627127 [GRCh38]
Chr11:6648358 [GRCh37]
Chr11:11p15.4		 uncertain significance|not provided
NM_003737.4(DCHS1):c.5513C>A (p.Thr1838Lys) single nucleotide variant not provided [RCV001756790] Chr11:6627526 [GRCh38]
Chr11:6648757 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.5853C>T (p.Arg1951=) single nucleotide variant not provided [RCV001765582] Chr11:6627186 [GRCh38]
Chr11:6648417 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.5408C>T (p.Ala1803Val) single nucleotide variant not provided [RCV001752536] Chr11:6627631 [GRCh38]
Chr11:6648862 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.4378G>C (p.Ala1460Pro) single nucleotide variant DCHS1-related disorder [RCV001825023]|not provided [RCV001752633] Chr11:6630416 [GRCh38]
Chr11:6651647 [GRCh37]
Chr11:11p15.4		 uncertain significance|not provided
NM_003737.4(DCHS1):c.6791C>T (p.Thr2264Met) single nucleotide variant Inborn genetic diseases [RCV002540255]|not provided [RCV001768792] Chr11:6625668 [GRCh38]
Chr11:6646899 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.554A>T (p.Asp185Val) single nucleotide variant not provided [RCV001768820] Chr11:6641060 [GRCh38]
Chr11:6662291 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.8051G>A (p.Gly2684Asp) single nucleotide variant not provided [RCV001752679] Chr11:6623625 [GRCh38]
Chr11:6644856 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.3656G>A (p.Gly1219Asp) single nucleotide variant not provided [RCV001769003] Chr11:6631635 [GRCh38]
Chr11:6652866 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.6206C>T (p.Pro2069Leu) single nucleotide variant not provided [RCV001753966] Chr11:6626833 [GRCh38]
Chr11:6648064 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.586C>T (p.Arg196Cys) single nucleotide variant not provided [RCV001754232] Chr11:6641028 [GRCh38]
Chr11:6662259 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.9554G>A (p.Arg3185Gln) single nucleotide variant not provided [RCV001753981] Chr11:6622122 [GRCh38]
Chr11:6643353 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.1090G>A (p.Val364Ile) single nucleotide variant not provided [RCV001771506] Chr11:6640524 [GRCh38]
Chr11:6661755 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.9449T>C (p.Ile3150Thr) single nucleotide variant not provided [RCV001763070] Chr11:6622227 [GRCh38]
Chr11:6643458 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.8338A>G (p.Ser2780Gly) single nucleotide variant not provided [RCV001794764] Chr11:6623338 [GRCh38]
Chr11:6644569 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.5533G>A (p.Val1845Met) single nucleotide variant not provided [RCV001757885] Chr11:6627506 [GRCh38]
Chr11:6648737 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.8597G>A (p.Gly2866Glu) single nucleotide variant not provided [RCV001758129] Chr11:6623079 [GRCh38]
Chr11:6644310 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.5918G>A (p.Gly1973Asp) single nucleotide variant Inborn genetic diseases [RCV002539905]|not provided [RCV001758130] Chr11:6627121 [GRCh38]
Chr11:6648352 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.5264A>G (p.His1755Arg) single nucleotide variant not provided [RCV001758494] Chr11:6628728 [GRCh38]
Chr11:6649959 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.4469C>A (p.Ala1490Glu) single nucleotide variant not provided [RCV001758663] Chr11:6630325 [GRCh38]
Chr11:6651556 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.5688C>T (p.Ala1896=) single nucleotide variant not provided [RCV001816097] Chr11:6627351 [GRCh38]
Chr11:6648582 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.3685C>T (p.Arg1229Cys) single nucleotide variant not provided [RCV002001596] Chr11:6631398 [GRCh38]
Chr11:6652629 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.325C>T (p.Arg109Cys) single nucleotide variant Inborn genetic diseases [RCV002551683]|not provided [RCV001875009] Chr11:6641289 [GRCh38]
Chr11:6662520 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.610G>A (p.Val204Ile) single nucleotide variant not provided [RCV001950718] Chr11:6641004 [GRCh38]
Chr11:6662235 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.6761G>A (p.Ser2254Asn) single nucleotide variant not provided [RCV001874110] Chr11:6625698 [GRCh38]
Chr11:6646929 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.4747C>G (p.Arg1583Gly) single nucleotide variant Inborn genetic diseases [RCV002573472]|not provided [RCV001971535] Chr11:6630047 [GRCh38]
Chr11:6651278 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.7932C>T (p.Gly2644=) single nucleotide variant not provided [RCV001874870] Chr11:6623744 [GRCh38]
Chr11:6644975 [GRCh37]
Chr11:11p15.4		 likely benign|uncertain significance
NM_003737.4(DCHS1):c.977G>C (p.Arg326Pro) single nucleotide variant not provided [RCV001988691] Chr11:6640637 [GRCh38]
Chr11:6661868 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.8821G>A (p.Val2941Met) single nucleotide variant not provided [RCV001988666] Chr11:6622855 [GRCh38]
Chr11:6644086 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.1880C>T (p.Pro627Leu) single nucleotide variant not provided [RCV001970632] Chr11:6634224 [GRCh38]
Chr11:6655455 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.8180C>T (p.Thr2727Ile) single nucleotide variant not provided [RCV001988347] Chr11:6623496 [GRCh38]
Chr11:6644727 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.8449G>C (p.Ala2817Pro) single nucleotide variant Van Maldergem syndrome 1 [RCV002490142]|not provided [RCV001893153] Chr11:6623227 [GRCh38]
Chr11:6644458 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.8675G>A (p.Arg2892Gln) single nucleotide variant not provided [RCV001948843] Chr11:6623001 [GRCh38]
Chr11:6644232 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.2723C>A (p.Ala908Asp) single nucleotide variant not provided [RCV001988007] Chr11:6632789 [GRCh38]
Chr11:6654020 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.8482C>T (p.Arg2828Cys) single nucleotide variant not provided [RCV001986267] Chr11:6623194 [GRCh38]
Chr11:6644425 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.1399G>A (p.Asp467Asn) single nucleotide variant not provided [RCV002043795] Chr11:6640215 [GRCh38]
Chr11:6661446 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.3310C>T (p.Arg1104Cys) single nucleotide variant not provided [RCV001873870] Chr11:6632202 [GRCh38]
Chr11:6653433 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.3538C>G (p.Leu1180Val) single nucleotide variant Inborn genetic diseases [RCV002550461]|not provided [RCV002021384] Chr11:6631753 [GRCh38]
Chr11:6652984 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.76CTG[10] (p.Leu32_Leu33dup) microsatellite not provided [RCV001982745] Chr11:6641514..6641515 [GRCh38]
Chr11:6662745..6662746 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.7285+3G>A single nucleotide variant not provided [RCV001986062] Chr11:6624727 [GRCh38]
Chr11:6645958 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.6190C>G (p.Arg2064Gly) single nucleotide variant not provided [RCV002005407] Chr11:6626849 [GRCh38]
Chr11:6648080 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.3842G>A (p.Arg1281Gln) single nucleotide variant not provided [RCV001909840] Chr11:6631141 [GRCh38]
Chr11:6652372 [GRCh37]
Chr11:11p15.4		 uncertain significance
GRCh37/hg19 11p15.4(chr11:6502523-7248333)x3 copy number gain not provided [RCV001836564] Chr11:6502523..7248333 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.7258G>A (p.Asp2420Asn) single nucleotide variant not provided [RCV001909048] Chr11:6624757 [GRCh38]
Chr11:6645988 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.9728G>C (p.Gly3243Ala) single nucleotide variant Inborn genetic diseases [RCV002571225]|not provided [RCV001968777] Chr11:6621948 [GRCh38]
Chr11:6643179 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.1814C>T (p.Ala605Val) single nucleotide variant not provided [RCV002005491] Chr11:6634290 [GRCh38]
Chr11:6655521 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.1967C>T (p.Thr656Ile) single nucleotide variant not provided [RCV002041621] Chr11:6634137 [GRCh38]
Chr11:6655368 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.4833A>G (p.Gln1611=) single nucleotide variant not provided [RCV001890416] Chr11:6629874 [GRCh38]
Chr11:6651105 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.7537C>T (p.Arg2513Cys) single nucleotide variant not provided [RCV001967287] Chr11:6624139 [GRCh38]
Chr11:6645370 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.767A>T (p.Asn256Ile) single nucleotide variant not provided [RCV002039866] Chr11:6640847 [GRCh38]
Chr11:6662078 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.7611_7612delinsTC (p.Ala2538Pro) indel not provided [RCV001912330] Chr11:6624064..6624065 [GRCh38]
Chr11:6645295..6645296 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.5583G>A (p.Ser1861=) single nucleotide variant not provided [RCV002022845] Chr11:6627456 [GRCh38]
Chr11:6648687 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.286G>A (p.Glu96Lys) single nucleotide variant not provided [RCV001949082] Chr11:6641328 [GRCh38]
Chr11:6662559 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.9436G>T (p.Ala3146Ser) single nucleotide variant not provided [RCV002024114] Chr11:6622240 [GRCh38]
Chr11:6643471 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.6216C>A (p.Ser2072Arg) single nucleotide variant not provided [RCV001872633] Chr11:6626823 [GRCh38]
Chr11:6648054 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.5372-17C>T single nucleotide variant not provided [RCV002024121] Chr11:6627684 [GRCh38]
Chr11:6648915 [GRCh37]
Chr11:11p15.4		 likely benign|uncertain significance
NM_003737.4(DCHS1):c.2713C>G (p.Pro905Ala) single nucleotide variant not provided [RCV001908339] Chr11:6632799 [GRCh38]
Chr11:6654030 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.1420C>T (p.Arg474Cys) single nucleotide variant not provided [RCV002007261] Chr11:6640194 [GRCh38]
Chr11:6661425 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.6074C>T (p.Ser2025Phe) single nucleotide variant not provided [RCV001908106] Chr11:6626965 [GRCh38]
Chr11:6648196 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.4708C>T (p.Arg1570Trp) single nucleotide variant Inborn genetic diseases [RCV002545469]|not provided [RCV002004381] Chr11:6630086 [GRCh38]
Chr11:6651317 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.4519C>T (p.Pro1507Ser) single nucleotide variant not provided [RCV002002215] Chr11:6630275 [GRCh38]
Chr11:6651506 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.9154C>T (p.Arg3052Cys) single nucleotide variant not provided [RCV001892121] Chr11:6622522 [GRCh38]
Chr11:6643753 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.7561A>G (p.Ser2521Gly) single nucleotide variant not provided [RCV001890468] Chr11:6624115 [GRCh38]
Chr11:6645346 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.5370A>G (p.Leu1790=) single nucleotide variant not provided [RCV001892150] Chr11:6628622 [GRCh38]
Chr11:6649853 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.8443G>A (p.Ala2815Thr) single nucleotide variant not provided [RCV001946037] Chr11:6623233 [GRCh38]
Chr11:6644464 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.6005G>A (p.Arg2002Gln) single nucleotide variant not provided [RCV001969788] Chr11:6627034 [GRCh38]
Chr11:6648265 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.8111C>T (p.Pro2704Leu) single nucleotide variant not provided [RCV001986023] Chr11:6623565 [GRCh38]
Chr11:6644796 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.9579del (p.Pro3195fs) deletion not provided [RCV002043057] Chr11:6622097 [GRCh38]
Chr11:6643328 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.5777C>A (p.Thr1926Asn) single nucleotide variant not provided [RCV001911984] Chr11:6627262 [GRCh38]
Chr11:6648493 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.1258G>A (p.Val420Ile) single nucleotide variant not provided [RCV001912475] Chr11:6640356 [GRCh38]
Chr11:6661587 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.8927C>T (p.Ser2976Leu) single nucleotide variant not provided [RCV001891049] Chr11:6622749 [GRCh38]
Chr11:6643980 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.9824A>G (p.Gln3275Arg) single nucleotide variant not provided [RCV002043577] Chr11:6621852 [GRCh38]
Chr11:6643083 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.6509G>A (p.Arg2170His) single nucleotide variant not provided [RCV001907899] Chr11:6626236 [GRCh38]
Chr11:6647467 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.2192C>A (p.Pro731Gln) single nucleotide variant not provided [RCV001889447] Chr11:6633815 [GRCh38]
Chr11:6655046 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.8761G>C (p.Asp2921His) single nucleotide variant not provided [RCV001964364] Chr11:6622915 [GRCh38]
Chr11:6644146 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.3316T>G (p.Ser1106Ala) single nucleotide variant Inborn genetic diseases [RCV002560548]|not provided [RCV001964585] Chr11:6632196 [GRCh38]
Chr11:6653427 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.8375A>G (p.Asn2792Ser) single nucleotide variant not provided [RCV002039290] Chr11:6623301 [GRCh38]
Chr11:6644532 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.5917G>C (p.Gly1973Arg) single nucleotide variant not provided [RCV001966382] Chr11:6627122 [GRCh38]
Chr11:6648353 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.6844G>A (p.Glu2282Lys) single nucleotide variant not provided [RCV002005371] Chr11:6625615 [GRCh38]
Chr11:6646846 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.6152C>G (p.Thr2051Ser) single nucleotide variant not provided [RCV002001203] Chr11:6626887 [GRCh38]
Chr11:6648118 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.313C>T (p.Arg105Cys) single nucleotide variant not provided [RCV001905988] Chr11:6641301 [GRCh38]
Chr11:6662532 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.5617C>G (p.Leu1873Val) single nucleotide variant not provided [RCV001980867] Chr11:6627422 [GRCh38]
Chr11:6648653 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.8147C>T (p.Ala2716Val) single nucleotide variant not provided [RCV001976871] Chr11:6623529 [GRCh38]
Chr11:6644760 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.3629C>T (p.Thr1210Met) single nucleotide variant not provided [RCV002000825] Chr11:6631662 [GRCh38]
Chr11:6652893 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.3640G>T (p.Ala1214Ser) single nucleotide variant not provided [RCV001942745] Chr11:6631651 [GRCh38]
Chr11:6652882 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.828G>A (p.Gln276=) single nucleotide variant not provided [RCV001943151] Chr11:6640786 [GRCh38]
Chr11:6662017 [GRCh37]
Chr11:11p15.4		 likely benign|uncertain significance
NM_003737.4(DCHS1):c.8315C>T (p.Pro2772Leu) single nucleotide variant Inborn genetic diseases [RCV002561441]|not provided [RCV001944326] Chr11:6623361 [GRCh38]
Chr11:6644592 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.6922G>A (p.Val2308Met) single nucleotide variant Inborn genetic diseases [RCV002563549]|not provided [RCV001997506] Chr11:6625422 [GRCh38]
Chr11:6646653 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.6233G>A (p.Arg2078His) single nucleotide variant Inborn genetic diseases [RCV002569213]|not provided [RCV001963453] Chr11:6626806 [GRCh38]
Chr11:6648037 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.8666G>A (p.Arg2889Gln) single nucleotide variant Inborn genetic diseases [RCV002579661]|not provided [RCV002000945] Chr11:6623010 [GRCh38]
Chr11:6644241 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.520C>A (p.Arg174Ser) single nucleotide variant not provided [RCV002020296] Chr11:6641094 [GRCh38]
Chr11:6662325 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.8999A>T (p.Glu3000Val) single nucleotide variant not provided [RCV002000990] Chr11:6622677 [GRCh38]
Chr11:6643908 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.5908C>T (p.Pro1970Ser) single nucleotide variant not provided [RCV002039155] Chr11:6627131 [GRCh38]
Chr11:6648362 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.6499A>T (p.Asn2167Tyr) single nucleotide variant not provided [RCV001943424] Chr11:6626246 [GRCh38]
Chr11:6647477 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.9759C>G (p.Ser3253Arg) single nucleotide variant not provided [RCV001979688] Chr11:6621917 [GRCh38]
Chr11:6643148 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.4708C>G (p.Arg1570Gly) single nucleotide variant not provided [RCV001924812] Chr11:6630086 [GRCh38]
Chr11:6651317 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.9459C>T (p.Gly3153=) single nucleotide variant not provided [RCV001938209] Chr11:6622217 [GRCh38]
Chr11:6643448 [GRCh37]
Chr11:11p15.4		 likely benign|uncertain significance
NM_003737.4(DCHS1):c.3684C>A (p.Asp1228Glu) single nucleotide variant Inborn genetic diseases [RCV002562882]|not provided [RCV001981674] Chr11:6631399 [GRCh38]
Chr11:6652630 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.692G>A (p.Gly231Asp) single nucleotide variant not provided [RCV001998781] Chr11:6640922 [GRCh38]
Chr11:6662153 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.7038G>T (p.Gln2346His) single nucleotide variant not provided [RCV001943774] Chr11:6625306 [GRCh38]
Chr11:6646537 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.4552C>G (p.Arg1518Gly) single nucleotide variant not provided [RCV001878878] Chr11:6630242 [GRCh38]
Chr11:6651473 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.6650G>A (p.Arg2217His) single nucleotide variant not provided [RCV001979154] Chr11:6626001 [GRCh38]
Chr11:6647232 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.1583G>C (p.Gly528Ala) single nucleotide variant not provided [RCV001955586] Chr11:6640031 [GRCh38]
Chr11:6661262 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.335G>A (p.Arg112Gln) single nucleotide variant not provided [RCV001954417] Chr11:6641279 [GRCh38]
Chr11:6662510 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.6062G>A (p.Arg2021His) single nucleotide variant not provided [RCV001920761] Chr11:6626977 [GRCh38]
Chr11:6648208 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.3955G>A (p.Glu1319Lys) single nucleotide variant not provided [RCV001919261] Chr11:6630839 [GRCh38]
Chr11:6652070 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.1513A>C (p.Asn505His) single nucleotide variant not provided [RCV001898088] Chr11:6640101 [GRCh38]
Chr11:6661332 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.9748A>C (p.Met3250Leu) single nucleotide variant not provided [RCV001899415] Chr11:6621928 [GRCh38]
Chr11:6643159 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.1462C>T (p.Pro488Ser) single nucleotide variant not provided [RCV001881748] Chr11:6640152 [GRCh38]
Chr11:6661383 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.6862+3G>A single nucleotide variant not provided [RCV002014481] Chr11:6625594 [GRCh38]
Chr11:6646825 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.2305C>T (p.Gln769Ter) single nucleotide variant not provided [RCV001950876] Chr11:6633562 [GRCh38]
Chr11:6654793 [GRCh37]
Chr11:11p15.4		 pathogenic
NM_003737.4(DCHS1):c.6134G>A (p.Arg2045His) single nucleotide variant Inborn genetic diseases [RCV002548770]|not provided [RCV002026163] Chr11:6626905 [GRCh38]
Chr11:6648136 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.177A>G (p.Thr59=) single nucleotide variant not provided [RCV002030295] Chr11:6641437 [GRCh38]
Chr11:6662668 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.3308C>A (p.Pro1103His) single nucleotide variant not provided [RCV002033120] Chr11:6632204 [GRCh38]
Chr11:6653435 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.1888C>A (p.Arg630Ser) single nucleotide variant not provided [RCV002028930] Chr11:6634216 [GRCh38]
Chr11:6655447 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.8960A>G (p.Gln2987Arg) single nucleotide variant not provided [RCV001897362] Chr11:6622716 [GRCh38]
Chr11:6643947 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.3361G>C (p.Gly1121Arg) single nucleotide variant not provided [RCV001870155] Chr11:6632151 [GRCh38]
Chr11:6653382 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.5303C>T (p.Thr1768Ile) single nucleotide variant not provided [RCV001875573] Chr11:6628689 [GRCh38]
Chr11:6649920 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.1521G>C (p.Gln507His) single nucleotide variant Inborn genetic diseases [RCV002555776]|not provided [RCV001916264] Chr11:6640093 [GRCh38]
Chr11:6661324 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.7408G>A (p.Val2470Met) single nucleotide variant not provided [RCV001900164] Chr11:6624268 [GRCh38]
Chr11:6645499 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.1669C>T (p.Pro557Ser) single nucleotide variant not provided [RCV001957516] Chr11:6639945 [GRCh38]
Chr11:6661176 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.9133C>T (p.Arg3045Cys) single nucleotide variant not provided [RCV002033691] Chr11:6622543 [GRCh38]
Chr11:6643774 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.2750G>A (p.Arg917Gln) single nucleotide variant not provided [RCV001940896] Chr11:6632762 [GRCh38]
Chr11:6653993 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.8654G>T (p.Gly2885Val) single nucleotide variant not provided [RCV002029505] Chr11:6623022 [GRCh38]
Chr11:6644253 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.197C>T (p.Ala66Val) single nucleotide variant not provided [RCV001992458] Chr11:6641417 [GRCh38]
Chr11:6662648 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.9883G>C (p.Glu3295Gln) single nucleotide variant Inborn genetic diseases [RCV002564435]|not provided [RCV001997693] Chr11:6621793 [GRCh38]
Chr11:6643024 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.592G>A (p.Gly198Ser) single nucleotide variant not provided [RCV001961588] Chr11:6641022 [GRCh38]
Chr11:6662253 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.6004C>T (p.Arg2002Trp) single nucleotide variant not provided [RCV002020081] Chr11:6627035 [GRCh38]
Chr11:6648266 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.481C>T (p.Arg161Cys) single nucleotide variant not provided [RCV001975572] Chr11:6641133 [GRCh38]
Chr11:6662364 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.5043C>G (p.Asn1681Lys) single nucleotide variant not provided [RCV002031110] Chr11:6629570 [GRCh38]
Chr11:6650801 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.4814G>A (p.Arg1605Gln) single nucleotide variant not provided [RCV001997755] Chr11:6629893 [GRCh38]
Chr11:6651124 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.6685A>G (p.Ile2229Val) single nucleotide variant not provided [RCV001907462] Chr11:6625966 [GRCh38]
Chr11:6647197 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.3260G>C (p.Gly1087Ala) single nucleotide variant not provided [RCV002028529] Chr11:6632252 [GRCh38]
Chr11:6653483 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.2932C>T (p.Arg978Cys) single nucleotide variant not provided [RCV001937277] Chr11:6632580 [GRCh38]
Chr11:6653811 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.6803T>C (p.Ile2268Thr) single nucleotide variant not provided [RCV001957957] Chr11:6625656 [GRCh38]
Chr11:6646887 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.9653C>A (p.Pro3218His) single nucleotide variant not provided [RCV001996615] Chr11:6622023 [GRCh38]
Chr11:6643254 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.8734C>T (p.Arg2912Trp) single nucleotide variant not provided [RCV002010917] Chr11:6622942 [GRCh38]
Chr11:6644173 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.1034C>T (p.Ser345Leu) single nucleotide variant not provided [RCV001879424] Chr11:6640580 [GRCh38]
Chr11:6661811 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.7075C>G (p.Arg2359Gly) single nucleotide variant not provided [RCV001935587] Chr11:6625269 [GRCh38]
Chr11:6646500 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.4882C>T (p.Pro1628Ser) single nucleotide variant not provided [RCV001935604] Chr11:6629825 [GRCh38]
Chr11:6651056 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.5575G>A (p.Ala1859Thr) single nucleotide variant not provided [RCV001885950] Chr11:6627464 [GRCh38]
Chr11:6648695 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.9799G>A (p.Val3267Ile) single nucleotide variant not provided [RCV002013575] Chr11:6621877 [GRCh38]
Chr11:6643108 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.5230G>A (p.Glu1744Lys) single nucleotide variant not provided [RCV001920009] Chr11:6628762 [GRCh38]
Chr11:6649993 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.9674C>A (p.Ala3225Glu) single nucleotide variant not provided [RCV001884227] Chr11:6622002 [GRCh38]
Chr11:6643233 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.2258A>G (p.Asn753Ser) single nucleotide variant not provided [RCV001982165] Chr11:6633609 [GRCh38]
Chr11:6654840 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.3524G>C (p.Ser1175Thr) single nucleotide variant not provided [RCV001938293] Chr11:6631767 [GRCh38]
Chr11:6652998 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.7316C>T (p.Ala2439Val) single nucleotide variant not provided [RCV001904463] Chr11:6624360 [GRCh38]
Chr11:6645591 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.1460T>C (p.Leu487Pro) single nucleotide variant not provided [RCV002011503] Chr11:6640154 [GRCh38]
Chr11:6661385 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.4451C>G (p.Pro1484Arg) single nucleotide variant not provided [RCV001922258] Chr11:6630343 [GRCh38]
Chr11:6651574 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.6205C>A (p.Pro2069Thr) single nucleotide variant not provided [RCV001917361] Chr11:6626834 [GRCh38]
Chr11:6648065 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.6508C>T (p.Arg2170Cys) single nucleotide variant not provided [RCV001973575] Chr11:6626237 [GRCh38]
Chr11:6647468 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.3269C>T (p.Thr1090Ile) single nucleotide variant not provided [RCV002013894] Chr11:6632243 [GRCh38]
Chr11:6653474 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.7573G>A (p.Gly2525Ser) single nucleotide variant not provided [RCV001880827] Chr11:6624103 [GRCh38]
Chr11:6645334 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.932C>T (p.Thr311Met) single nucleotide variant Inborn genetic diseases [RCV002548131]|not provided [RCV002017628] Chr11:6640682 [GRCh38]
Chr11:6661913 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.9593G>A (p.Arg3198His) single nucleotide variant not provided [RCV002047733] Chr11:6622083 [GRCh38]
Chr11:6643314 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.5300A>G (p.Gln1767Arg) single nucleotide variant not provided [RCV002019631] Chr11:6628692 [GRCh38]
Chr11:6649923 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.8578G>C (p.Gly2860Arg) single nucleotide variant not provided [RCV001905482] Chr11:6623098 [GRCh38]
Chr11:6644329 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.7394G>A (p.Arg2465Gln) single nucleotide variant Inborn genetic diseases [RCV002563490]|not provided [RCV001996744] Chr11:6624282 [GRCh38]
Chr11:6645513 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.7146+3A>T single nucleotide variant not provided [RCV001906355] Chr11:6625195 [GRCh38]
Chr11:6646426 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.3572G>A (p.Arg1191His) single nucleotide variant not provided [RCV001926200] Chr11:6631719 [GRCh38]
Chr11:6652950 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.9701C>T (p.Ser3234Phe) single nucleotide variant not provided [RCV001922716] Chr11:6621975 [GRCh38]
Chr11:6643206 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.4469C>T (p.Ala1490Val) single nucleotide variant not provided [RCV001898249] Chr11:6630325 [GRCh38]
Chr11:6651556 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.7705A>C (p.Asn2569His) single nucleotide variant not provided [RCV001990092] Chr11:6623971 [GRCh38]
Chr11:6645202 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.5719A>C (p.Ser1907Arg) single nucleotide variant not provided [RCV001991095] Chr11:6627320 [GRCh38]
Chr11:6648551 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.5844C>G (p.Ile1948Met) single nucleotide variant not provided [RCV001904269] Chr11:6627195 [GRCh38]
Chr11:6648426 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.1457C>T (p.Ala486Val) single nucleotide variant Inborn genetic diseases [RCV002560449]|not provided [RCV001921467] Chr11:6640157 [GRCh38]
Chr11:6661388 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.2324G>A (p.Arg775Gln) single nucleotide variant not provided [RCV001937337] Chr11:6633543 [GRCh38]
Chr11:6654774 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.3898C>T (p.Pro1300Ser) single nucleotide variant not provided [RCV002012703] Chr11:6631085 [GRCh38]
Chr11:6652316 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.1973C>G (p.Thr658Arg) single nucleotide variant not provided [RCV001936253] Chr11:6634131 [GRCh38]
Chr11:6655362 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.5912G>A (p.Arg1971His) single nucleotide variant not provided [RCV002026512] Chr11:6627127 [GRCh38]
Chr11:6648358 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.9707G>A (p.Arg3236His) single nucleotide variant not provided [RCV002027599] Chr11:6621969 [GRCh38]
Chr11:6643200 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.1815G>A (p.Ala605=) single nucleotide variant not provided [RCV001972571] Chr11:6634289 [GRCh38]
Chr11:6655520 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.6599A>C (p.Gln2200Pro) single nucleotide variant Van Maldergem syndrome 1 [RCV002503511]|not provided [RCV001881972] Chr11:6626052 [GRCh38]
Chr11:6647283 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.878A>G (p.Glu293Gly) single nucleotide variant not provided [RCV001875741] Chr11:6640736 [GRCh38]
Chr11:6661967 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.4350G>T (p.Glu1450Asp) single nucleotide variant Inborn genetic diseases [RCV002549081]|not provided [RCV002032308] Chr11:6630444 [GRCh38]
Chr11:6651675 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.6061C>T (p.Arg2021Cys) single nucleotide variant Inborn genetic diseases [RCV003101288]|not provided [RCV002226151] Chr11:6626978 [GRCh38]
Chr11:6648209 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.3414A>G (p.Gly1138=) single nucleotide variant not provided [RCV002109770] Chr11:6632098 [GRCh38]
Chr11:6653329 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.6467T>A (p.Val2156Glu) single nucleotide variant not provided [RCV002168145] Chr11:6626278 [GRCh38]
Chr11:6647509 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.726C>T (p.Asp242=) single nucleotide variant not provided [RCV002085602] Chr11:6640888 [GRCh38]
Chr11:6662119 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.6828C>G (p.Thr2276=) single nucleotide variant not provided [RCV002147318] Chr11:6625631 [GRCh38]
Chr11:6646862 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.6993C>G (p.Val2331=) single nucleotide variant not provided [RCV002112040] Chr11:6625351 [GRCh38]
Chr11:6646582 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.6380G>A (p.Arg2127His) single nucleotide variant Inborn genetic diseases [RCV003089100]|not provided [RCV002208686] Chr11:6626365 [GRCh38]
Chr11:6647596 [GRCh37]
Chr11:11p15.4		 likely benign|uncertain significance
NM_003737.4(DCHS1):c.3481+8C>T single nucleotide variant not provided [RCV002165267] Chr11:6632023 [GRCh38]
Chr11:6653254 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.9405C>T (p.Phe3135=) single nucleotide variant not provided [RCV002109559] Chr11:6622271 [GRCh38]
Chr11:6643502 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.3423C>G (p.Thr1141=) single nucleotide variant not provided [RCV002147940] Chr11:6632089 [GRCh38]
Chr11:6653320 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.2343G>T (p.Val781=) single nucleotide variant not provided [RCV002089286] Chr11:6633524 [GRCh38]
Chr11:6654755 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.4369A>G (p.Thr1457Ala) single nucleotide variant not provided [RCV002072624] Chr11:6630425 [GRCh38]
Chr11:6651656 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.8793T>C (p.Pro2931=) single nucleotide variant not provided [RCV002206733] Chr11:6622883 [GRCh38]
Chr11:6644114 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.9870A>G (p.Pro3290=) single nucleotide variant not provided [RCV002146139] Chr11:6621806 [GRCh38]
Chr11:6643037 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.7902T>C (p.His2634=) single nucleotide variant not provided [RCV002072874] Chr11:6623774 [GRCh38]
Chr11:6645005 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.6722C>T (p.Ala2241Val) single nucleotide variant not provided [RCV002073691] Chr11:6625929 [GRCh38]
Chr11:6647160 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.1677C>T (p.Ala559=) single nucleotide variant not provided [RCV002168470] Chr11:6639937 [GRCh38]
Chr11:6661168 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.944A>G (p.Gln315Arg) single nucleotide variant Inborn genetic diseases [RCV002551252]|not provided [RCV002092470] Chr11:6640670 [GRCh38]
Chr11:6661901 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.3621C>T (p.Asn1207=) single nucleotide variant not provided [RCV002126905] Chr11:6631670 [GRCh38]
Chr11:6652901 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.1936C>G (p.Arg646Gly) single nucleotide variant not provided [RCV002210692] Chr11:6634168 [GRCh38]
Chr11:6655399 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.6577-4C>T single nucleotide variant not provided [RCV002207320] Chr11:6626078 [GRCh38]
Chr11:6647309 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.3930+20C>T single nucleotide variant not provided [RCV002224884] Chr11:6631033 [GRCh38]
Chr11:6652264 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.564A>G (p.Gly188=) single nucleotide variant not provided [RCV002106633] Chr11:6641050 [GRCh38]
Chr11:6662281 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.6183A>G (p.Glu2061=) single nucleotide variant not provided [RCV002189543] Chr11:6626856 [GRCh38]
Chr11:6648087 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.3285C>A (p.Ile1095=) single nucleotide variant not provided [RCV002189810] Chr11:6632227 [GRCh38]
Chr11:6653458 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.9201A>G (p.Ser3067=) single nucleotide variant not provided [RCV002127641] Chr11:6622475 [GRCh38]
Chr11:6643706 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.6822C>T (p.Arg2274=) single nucleotide variant not provided [RCV002106611] Chr11:6625637 [GRCh38]
Chr11:6646868 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.5772C>T (p.Ser1924=) single nucleotide variant not provided [RCV002208016] Chr11:6627267 [GRCh38]
Chr11:6648498 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.8958G>T (p.Leu2986=) single nucleotide variant not provided [RCV002223724] Chr11:6622718 [GRCh38]
Chr11:6643949 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.7286-13G>A single nucleotide variant not provided [RCV002191376] Chr11:6624403 [GRCh38]
Chr11:6645634 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.2456-17T>C single nucleotide variant not provided [RCV002125258] Chr11:6633073 [GRCh38]
Chr11:6654304 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.2455+70G>A single nucleotide variant not provided [RCV002223725] Chr11:6633342 [GRCh38]
Chr11:6654573 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.6300A>T (p.Gly2100=) single nucleotide variant not provided [RCV002192222] Chr11:6626616 [GRCh38]
Chr11:6647847 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.3984C>T (p.Asp1328=) single nucleotide variant not provided [RCV002073513] Chr11:6630810 [GRCh38]
Chr11:6652041 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.300C>T (p.Val100=) single nucleotide variant not provided [RCV002075575] Chr11:6641314 [GRCh38]
Chr11:6662545 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.2025G>A (p.Leu675=) single nucleotide variant not provided [RCV002211909] Chr11:6633982 [GRCh38]
Chr11:6655213 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.8972G>A (p.Arg2991Gln) single nucleotide variant not provided [RCV002210988] Chr11:6622704 [GRCh38]
Chr11:6643935 [GRCh37]
Chr11:11p15.4		 conflicting interpretations of pathogenicity|uncertain significance
NM_003737.4(DCHS1):c.6876C>T (p.Gly2292=) single nucleotide variant not provided [RCV002206414] Chr11:6625468 [GRCh38]
Chr11:6646699 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.3695C>T (p.Pro1232Leu) single nucleotide variant not provided [RCV002196299] Chr11:6631388 [GRCh38]
Chr11:6652619 [GRCh37]
Chr11:11p15.4		 benign
NM_003737.4(DCHS1):c.3687C>T (p.Arg1229=) single nucleotide variant not provided [RCV002109608] Chr11:6631396 [GRCh38]
Chr11:6652627 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.8891G>A (p.Arg2964His) single nucleotide variant not provided [RCV002196873] Chr11:6622785 [GRCh38]
Chr11:6644016 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.3081A>T (p.Pro1027=) single nucleotide variant not provided [RCV002127984] Chr11:6632431 [GRCh38]
Chr11:6653662 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.2523G>A (p.Ala841=) single nucleotide variant not provided [RCV002131977] Chr11:6632989 [GRCh38]
Chr11:6654220 [GRCh37]
Chr11:11p15.4		 benign
NM_003737.4(DCHS1):c.9850G>A (p.Ala3284Thr) single nucleotide variant not provided [RCV002114770] Chr11:6621826 [GRCh38]
Chr11:6643057 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.8959C>T (p.Gln2987Ter) single nucleotide variant not provided [RCV002223723] Chr11:6622717 [GRCh38]
Chr11:6643948 [GRCh37]
Chr11:11p15.4		 likely pathogenic
NM_003737.4(DCHS1):c.4713C>T (p.Asp1571=) single nucleotide variant not provided [RCV002106958] Chr11:6630081 [GRCh38]
Chr11:6651312 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.1855G>A (p.Ala619Thr) single nucleotide variant not provided [RCV002173352] Chr11:6634249 [GRCh38]
Chr11:6655480 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.7872A>G (p.Val2624=) single nucleotide variant not provided [RCV002079933] Chr11:6623804 [GRCh38]
Chr11:6645035 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.8316C>T (p.Pro2772=) single nucleotide variant not provided [RCV002085306] Chr11:6623360 [GRCh38]
Chr11:6644591 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.7623G>A (p.Gly2541=) single nucleotide variant not provided [RCV002133259] Chr11:6624053 [GRCh38]
Chr11:6645284 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.3663C>G (p.Gly1221=) single nucleotide variant not provided [RCV002093103] Chr11:6631628 [GRCh38]
Chr11:6652859 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.1419C>T (p.Asp473=) single nucleotide variant not provided [RCV002151638] Chr11:6640195 [GRCh38]
Chr11:6661426 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.1812C>T (p.Asp604=) single nucleotide variant not provided [RCV002095339] Chr11:6634292 [GRCh38]
Chr11:6655523 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.9513T>C (p.Pro3171=) single nucleotide variant not provided [RCV002076448] Chr11:6622163 [GRCh38]
Chr11:6643394 [GRCh37]
Chr11:11p15.4		 benign
NM_003737.4(DCHS1):c.9879C>T (p.Asp3293=) single nucleotide variant not provided [RCV002109656] Chr11:6621797 [GRCh38]
Chr11:6643028 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.4398C>G (p.Pro1466=) single nucleotide variant not provided [RCV002133797] Chr11:6630396 [GRCh38]
Chr11:6651627 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.3930+9G>A single nucleotide variant not provided [RCV002151835] Chr11:6631044 [GRCh38]
Chr11:6652275 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.2455+19C>A single nucleotide variant not provided [RCV002208482] Chr11:6633393 [GRCh38]
Chr11:6654624 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.9393G>A (p.Gly3131=) single nucleotide variant not provided [RCV002129601] Chr11:6622283 [GRCh38]
Chr11:6643514 [GRCh37]
Chr11:11p15.4		 benign
NM_003737.4(DCHS1):c.1755C>T (p.Ala585=) single nucleotide variant not provided [RCV002078426] Chr11:6639859 [GRCh38]
Chr11:6661090 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.6863-20A>G single nucleotide variant not provided [RCV002116009] Chr11:6625501 [GRCh38]
Chr11:6646732 [GRCh37]
Chr11:11p15.4		 benign
NM_003737.4(DCHS1):c.7410G>T (p.Val2470=) single nucleotide variant not provided [RCV002113131] Chr11:6624266 [GRCh38]
Chr11:6645497 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.9420G>A (p.Lys3140=) single nucleotide variant not provided [RCV002112187] Chr11:6622256 [GRCh38]
Chr11:6643487 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.4359A>G (p.Ala1453=) single nucleotide variant not provided [RCV002104989] Chr11:6630435 [GRCh38]
Chr11:6651666 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.3162A>G (p.Leu1054=) single nucleotide variant not provided [RCV002213643] Chr11:6632350 [GRCh38]
Chr11:6653581 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.9G>A (p.Lys3=) single nucleotide variant not provided [RCV002131797] Chr11:6641605 [GRCh38]
Chr11:6662836 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.3772+19_3772+21del microsatellite not provided [RCV002155667] Chr11:6631290..6631292 [GRCh38]
Chr11:6652521..6652523 [GRCh37]
Chr11:11p15.4		 benign
NM_003737.4(DCHS1):c.633G>A (p.Gly211=) single nucleotide variant not provided [RCV002199586] Chr11:6640981 [GRCh38]
Chr11:6662212 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.6498C>T (p.Asp2166=) single nucleotide variant not provided [RCV002121356] Chr11:6626247 [GRCh38]
Chr11:6647478 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.192C>A (p.Ile64=) single nucleotide variant not provided [RCV002220163] Chr11:6641422 [GRCh38]
Chr11:6662653 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.2484A>C (p.Leu828=) single nucleotide variant not provided [RCV002177386] Chr11:6633028 [GRCh38]
Chr11:6654259 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.6243G>A (p.Ala2081=) single nucleotide variant not provided [RCV002218747] Chr11:6626796 [GRCh38]
Chr11:6648027 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.3840C>T (p.Ile1280=) single nucleotide variant not provided [RCV002219551] Chr11:6631143 [GRCh38]
Chr11:6652374 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.1512C>T (p.Thr504=) single nucleotide variant not provided [RCV002180666] Chr11:6640102 [GRCh38]
Chr11:6661333 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.6250+15A>T single nucleotide variant not provided [RCV002144478] Chr11:6626774 [GRCh38]
Chr11:6648005 [GRCh37]
Chr11:11p15.4		 benign
NM_003737.4(DCHS1):c.9363G>T (p.Gly3121=) single nucleotide variant not provided [RCV002137365] Chr11:6622313 [GRCh38]
Chr11:6643544 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.4258C>T (p.Leu1420=) single nucleotide variant not provided [RCV002198018] Chr11:6630536 [GRCh38]
Chr11:6651767 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.5482C>A (p.Arg1828=) single nucleotide variant not provided [RCV002098342] Chr11:6627557 [GRCh38]
Chr11:6648788 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.6180G>A (p.Gly2060=) single nucleotide variant not provided [RCV002100594] Chr11:6626859 [GRCh38]
Chr11:6648090 [GRCh37]
Chr11:11p15.4		 benign
NM_003737.4(DCHS1):c.5685C>T (p.Gly1895=) single nucleotide variant not provided [RCV002155278] Chr11:6627354 [GRCh38]
Chr11:6648585 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.5036-5C>G single nucleotide variant not provided [RCV002164533] Chr11:6629582 [GRCh38]
Chr11:6650813 [GRCh37]
Chr11:11p15.4		 benign
NM_003737.4(DCHS1):c.4796-10G>A single nucleotide variant not provided [RCV002142552] Chr11:6629921 [GRCh38]
Chr11:6651152 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.1987-5A>G single nucleotide variant not provided [RCV002178674] Chr11:6634025 [GRCh38]
Chr11:6655256 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.9441G>A (p.Leu3147=) single nucleotide variant not provided [RCV002135458] Chr11:6622235 [GRCh38]
Chr11:6643466 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.7606A>C (p.Arg2536=) single nucleotide variant not provided [RCV002139439] Chr11:6624070 [GRCh38]
Chr11:6645301 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.1458G>A (p.Ala486=) single nucleotide variant not provided [RCV002120091] Chr11:6640156 [GRCh38]
Chr11:6661387 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.5832G>A (p.Val1944=) single nucleotide variant not provided [RCV002083926] Chr11:6627207 [GRCh38]
Chr11:6648438 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.3765G>A (p.Thr1255=) single nucleotide variant not provided [RCV002084113] Chr11:6631318 [GRCh38]
Chr11:6652549 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.5787G>A (p.Val1929=) single nucleotide variant not provided [RCV002203824] Chr11:6627252 [GRCh38]
Chr11:6648483 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.7500T>C (p.Thr2500=) single nucleotide variant not provided [RCV002158590] Chr11:6624176 [GRCh38]
Chr11:6645407 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.6804C>T (p.Ile2268=) single nucleotide variant not provided [RCV002204111] Chr11:6625655 [GRCh38]
Chr11:6646886 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.2067G>A (p.Glu689=) single nucleotide variant not provided [RCV002180350] Chr11:6633940 [GRCh38]
Chr11:6655171 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.6921C>T (p.Pro2307=) single nucleotide variant not provided [RCV002157689] Chr11:6625423 [GRCh38]
Chr11:6646654 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.2883G>C (p.Gly961=) single nucleotide variant not provided [RCV002179067] Chr11:6632629 [GRCh38]
Chr11:6653860 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.6276C>T (p.Ala2092=) single nucleotide variant not provided [RCV002180957] Chr11:6626640 [GRCh38]
Chr11:6647871 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.6644C>T (p.Pro2215Leu) single nucleotide variant not provided [RCV002081494] Chr11:6626007 [GRCh38]
Chr11:6647238 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.9798C>T (p.Pro3266=) single nucleotide variant not provided [RCV002098801] Chr11:6621878 [GRCh38]
Chr11:6643109 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.8466G>C (p.Val2822=) single nucleotide variant not provided [RCV002140248] Chr11:6623210 [GRCh38]
Chr11:6644441 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.3482-7C>T single nucleotide variant not provided [RCV002160902] Chr11:6631816 [GRCh38]
Chr11:6653047 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.2280C>T (p.Ile760=) single nucleotide variant not provided [RCV002161094] Chr11:6633587 [GRCh38]
Chr11:6654818 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.727G>A (p.Val243Met) single nucleotide variant not provided [RCV003110867] Chr11:6640887 [GRCh38]
Chr11:6662118 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.7988A>G (p.His2663Arg) single nucleotide variant not provided [RCV003115173] Chr11:6623688 [GRCh38]
Chr11:6644919 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.3688G>A (p.Val1230Met) single nucleotide variant not provided [RCV003115861] Chr11:6631395 [GRCh38]
Chr11:6652626 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.6406G>A (p.Val2136Met) single nucleotide variant not provided [RCV003112490] Chr11:6626339 [GRCh38]
Chr11:6647570 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.8848G>C (p.Val2950Leu) single nucleotide variant not provided [RCV003114746] Chr11:6622828 [GRCh38]
Chr11:6644059 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.9804C>T (p.Val3268_Ser3269=) single nucleotide variant not provided [RCV003115508] Chr11:6621872 [GRCh38]
Chr11:6643103 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.7434C>T (p.His2478_Ala2479=) single nucleotide variant not provided [RCV003115576] Chr11:6624242 [GRCh38]
Chr11:6645473 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.1954A>G (p.Ser652Gly) single nucleotide variant not provided [RCV003117304] Chr11:6634150 [GRCh38]
Chr11:6655381 [GRCh37]
Chr11:11p15.4		 likely benign
NC_000011.9:g.(?_6411829)_(6662844_?)dup duplication not provided [RCV003111159] Chr11:6411829..6662844 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.5404C>T (p.Leu1802Phe) single nucleotide variant not provided [RCV003112928] Chr11:6627635 [GRCh38]
Chr11:6648866 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.3885C>T (p.Asp1295_Gln1296=) single nucleotide variant not provided [RCV003112955] Chr11:6631098 [GRCh38]
Chr11:6652329 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.7485G>T (p.Leu2495_Pro2496=) single nucleotide variant not provided [RCV003115747] Chr11:6624191 [GRCh38]
Chr11:6645422 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.8046T>G (p.Pro2682_Ala2683=) single nucleotide variant not provided [RCV003118731] Chr11:6623630 [GRCh38]
Chr11:6644861 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.8775C>T (p.Thr2925_Ala2926=) single nucleotide variant not provided [RCV003121161] Chr11:6622901 [GRCh38]
Chr11:6644132 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.170C>G (p.Ala57Gly) single nucleotide variant not provided [RCV002273578] Chr11:6641444 [GRCh38]
Chr11:6662675 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.7001C>T (p.Thr2334Met) single nucleotide variant not provided [RCV002275417] Chr11:6625343 [GRCh38]
Chr11:6646574 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.8611C>T (p.Arg2871Trp) single nucleotide variant not provided [RCV002283121] Chr11:6623065 [GRCh38]
Chr11:6644296 [GRCh37]
Chr11:11p15.4		 conflicting interpretations of pathogenicity|uncertain significance
NM_003737.4(DCHS1):c.1939G>A (p.Asp647Asn) single nucleotide variant not provided [RCV002287091] Chr11:6634165 [GRCh38]
Chr11:6655396 [GRCh37]
Chr11:11p15.4		 uncertain significance
GRCh37/hg19 11p15.5-14.2(chr11:230615-26881146)x3 copy number gain See cases [RCV002286351] Chr11:230615..26881146 [GRCh37]
Chr11:11p15.5-14.2		 pathogenic
NM_003737.4(DCHS1):c.2500C>T (p.Arg834Ter) single nucleotide variant Van Maldergem syndrome 1 [RCV002290411] Chr11:6633012 [GRCh38]
Chr11:6654243 [GRCh37]
Chr11:11p15.4		 likely pathogenic
NM_003737.4(DCHS1):c.4463T>C (p.Leu1488Pro) single nucleotide variant Van Maldergem syndrome 1 [RCV002290412] Chr11:6630331 [GRCh38]
Chr11:6651562 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.5219C>A (p.Ala1740Asp) single nucleotide variant not provided [RCV002297637] Chr11:6628773 [GRCh38]
Chr11:6650004 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.3394C>G (p.Arg1132Gly) single nucleotide variant not provided [RCV002279071] Chr11:6632118 [GRCh38]
Chr11:6653349 [GRCh37]
Chr11:11p15.4		 uncertain significance
GRCh37/hg19 11p15.5-15.4(chr11:230616-8250724)x3 copy number gain not provided [RCV002472435] Chr11:230616..8250724 [GRCh37]
Chr11:11p15.5-15.4		 pathogenic
NM_003737.4(DCHS1):c.3615C>T (p.Asn1205_Asp1206=) single nucleotide variant not provided [RCV002750391] Chr11:6631676 [GRCh38]
Chr11:6652907 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.3541G>A (p.Val1181Met) single nucleotide variant not provided [RCV002296010] Chr11:6631750 [GRCh38]
Chr11:6652981 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.8890C>T (p.Arg2964Cys) single nucleotide variant Myoepithelial tumor [RCV002463957] Chr11:6622786 [GRCh38]
Chr11:6644017 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.5475A>G (p.Ile1825Met) single nucleotide variant not provided [RCV002304053] Chr11:6627564 [GRCh38]
Chr11:6648795 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.5555C>T (p.Ala1852Val) single nucleotide variant not provided [RCV002304630] Chr11:6627484 [GRCh38]
Chr11:6648715 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.5320G>T (p.Ala1774Ser) single nucleotide variant not provided [RCV002298376] Chr11:6628672 [GRCh38]
Chr11:6649903 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.7921G>T (p.Val2641Phe) single nucleotide variant not provided [RCV002304644] Chr11:6623755 [GRCh38]
Chr11:6644986 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.1793T>C (p.Leu598Pro) single nucleotide variant not provided [RCV002304928] Chr11:6639821 [GRCh38]
Chr11:6661052 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.3224T>C (p.Val1075Ala) single nucleotide variant not provided [RCV002301047] Chr11:6632288 [GRCh38]
Chr11:6653519 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.9694C>G (p.Pro3232Ala) single nucleotide variant not provided [RCV002305213] Chr11:6621982 [GRCh38]
Chr11:6643213 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.6554C>A (p.Pro2185His) single nucleotide variant not provided [RCV002300312] Chr11:6626191 [GRCh38]
Chr11:6647422 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.983A>G (p.His328Arg) single nucleotide variant not provided [RCV002299668] Chr11:6640631 [GRCh38]
Chr11:6661862 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.4295A>T (p.His1432Leu) single nucleotide variant not provided [RCV002301669] Chr11:6630499 [GRCh38]
Chr11:6651730 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.2252G>C (p.Arg751Pro) single nucleotide variant not provided [RCV002296515] Chr11:6633615 [GRCh38]
Chr11:6654846 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.2329G>C (p.Asp777His) single nucleotide variant not provided [RCV002308856] Chr11:6633538 [GRCh38]
Chr11:6654769 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.8783G>A (p.Gly2928Asp) single nucleotide variant not provided [RCV002296187] Chr11:6622893 [GRCh38]
Chr11:6644124 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.2282G>C (p.Gly761Ala) single nucleotide variant not provided [RCV002295667] Chr11:6633585 [GRCh38]
Chr11:6654816 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.2133C>G (p.Asp711Glu) single nucleotide variant not provided [RCV002303063] Chr11:6633874 [GRCh38]
Chr11:6655105 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.3857A>G (p.His1286Arg) single nucleotide variant not provided [RCV002295056] Chr11:6631126 [GRCh38]
Chr11:6652357 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.1670C>A (p.Pro557His) single nucleotide variant not provided [RCV002296861] Chr11:6639944 [GRCh38]
Chr11:6661175 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.3934C>A (p.Leu1312Ile) single nucleotide variant not provided [RCV002302204] Chr11:6630860 [GRCh38]
Chr11:6652091 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.890G>T (p.Arg297Met) single nucleotide variant not provided [RCV002613575] Chr11:6640724 [GRCh38]
Chr11:6661955 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.805_806delinsTT (p.Ala269Phe) indel not provided [RCV002617187] Chr11:6640808..6640809 [GRCh38]
Chr11:6662039..6662040 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.2353C>T (p.Pro785Ser) single nucleotide variant not provided [RCV002730699] Chr11:6633514 [GRCh38]
Chr11:6654745 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.3999G>C (p.Val1333_Pro1334=) single nucleotide variant not provided [RCV002775395] Chr11:6630795 [GRCh38]
Chr11:6652026 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.6216C>T (p.Ser2072_Ser2073=) single nucleotide variant not provided [RCV003074257] Chr11:6626823 [GRCh38]
Chr11:6648054 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.683A>G (p.Tyr228Cys) single nucleotide variant Inborn genetic diseases [RCV002776974] Chr11:6640931 [GRCh38]
Chr11:6662162 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.3593A>G (p.His1198Arg) single nucleotide variant not provided [RCV002617255] Chr11:6631698 [GRCh38]
Chr11:6652929 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.7285+4C>T single nucleotide variant not provided [RCV002837923] Chr11:6624726 [GRCh38]
Chr11:6645957 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.3001A>G (p.Asn1001Asp) single nucleotide variant not provided [RCV002750989] Chr11:6632511 [GRCh38]
Chr11:6653742 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.9039A>G (p.Pro3013_Gly3014=) single nucleotide variant not provided [RCV002971630] Chr11:6622637 [GRCh38]
Chr11:6643868 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.9706C>T (p.Arg3236Cys) single nucleotide variant not provided [RCV002614159] Chr11:6621970 [GRCh38]
Chr11:6643201 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.9509G>C (p.Cys3170Ser) single nucleotide variant not provided [RCV002991546] Chr11:6622167 [GRCh38]
Chr11:6643398 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.6209G>A (p.Arg2070Gln) single nucleotide variant not provided [RCV002731038] Chr11:6626830 [GRCh38]
Chr11:6648061 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.7870G>A (p.Val2624Ile) single nucleotide variant Inborn genetic diseases [RCV002992285] Chr11:6623806 [GRCh38]
Chr11:6645037 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.7912C>T (p.Arg2638Cys) single nucleotide variant not provided [RCV002730062] Chr11:6623764 [GRCh38]
Chr11:6644995 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.7811G>A (p.Arg2604Gln) single nucleotide variant not provided [RCV003073560] Chr11:6623865 [GRCh38]
Chr11:6645096 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.8460C>T (p.Phe2820_Gln2821=) single nucleotide variant not provided [RCV003014764] Chr11:6623216 [GRCh38]
Chr11:6644447 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.1182T>A (p.Asp394Glu) single nucleotide variant not provided [RCV002685728] Chr11:6640432 [GRCh38]
Chr11:6661663 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.8469C>T (p.Pro2823_Glu2824=) single nucleotide variant not provided [RCV002616188] Chr11:6623207 [GRCh38]
Chr11:6644438 [GRCh37]
Chr11:11p15.4		 benign
NM_003737.4(DCHS1):c.1134C>T (p.Ala378_Ala379=) single nucleotide variant not provided [RCV003097497] Chr11:6640480 [GRCh38]
Chr11:6661711 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.3002A>G (p.Asn1001Ser) single nucleotide variant not provided [RCV002618814] Chr11:6632510 [GRCh38]
Chr11:6653741 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.5143GAG[1] (p.Glu1716del) microsatellite not provided [RCV002967859] Chr11:6629465..6629467 [GRCh38]
Chr11:6650696..6650698 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.341G>A (p.Arg114His) single nucleotide variant not provided [RCV002775094] Chr11:6641273 [GRCh38]
Chr11:6662504 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.5121G>A (p.Arg1707_Ala1708=) single nucleotide variant not provided [RCV002681745] Chr11:6629492 [GRCh38]
Chr11:6650723 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.8426A>G (p.Tyr2809Cys) single nucleotide variant not provided [RCV002843405] Chr11:6623250 [GRCh38]
Chr11:6644481 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.7440G>A (p.Pro2480_Ser2481=) single nucleotide variant not provided [RCV002617532] Chr11:6624236 [GRCh38]
Chr11:6645467 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.4395C>T (p.Gly1465_Pro1466=) single nucleotide variant not provided [RCV002690337] Chr11:6630399 [GRCh38]
Chr11:6651630 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.6650G>T (p.Arg2217Leu) single nucleotide variant Inborn genetic diseases [RCV002732447] Chr11:6626001 [GRCh38]
Chr11:6647232 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.7139T>C (p.Leu2380Pro) single nucleotide variant not provided [RCV003033879] Chr11:6625205 [GRCh38]
Chr11:6646436 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.5599G>T (p.Asp1867Tyr) single nucleotide variant not provided [RCV002991615] Chr11:6627440 [GRCh38]
Chr11:6648671 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.7472T>C (p.Val2491Ala) single nucleotide variant not provided [RCV002461673] Chr11:6624204 [GRCh38]
Chr11:6645435 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.3676-10G>C single nucleotide variant not provided [RCV002614315] Chr11:6631417 [GRCh38]
Chr11:6652648 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.5140C>A (p.Gln1714Lys) single nucleotide variant not provided [RCV002815999] Chr11:6629473 [GRCh38]
Chr11:6650704 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.4058C>T (p.Ser1353Leu) single nucleotide variant not provided [RCV003017096] Chr11:6630736 [GRCh38]
Chr11:6651967 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.8401G>A (p.Val2801Met) single nucleotide variant Inborn genetic diseases [RCV002772515] Chr11:6623275 [GRCh38]
Chr11:6644506 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.2432T>C (p.Ile811Thr) single nucleotide variant not provided [RCV003032305] Chr11:6633435 [GRCh38]
Chr11:6654666 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.8344C>T (p.Arg2782Trp) single nucleotide variant not provided [RCV002908220] Chr11:6623332 [GRCh38]
Chr11:6644563 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.4531C>G (p.Leu1511Val) single nucleotide variant not provided [RCV002974802] Chr11:6630263 [GRCh38]
Chr11:6651494 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.99G>A (p.Leu33_Gly34=) single nucleotide variant not provided [RCV002819989] Chr11:6641515 [GRCh38]
Chr11:6662746 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.2789C>T (p.Thr930Ile) single nucleotide variant not provided [RCV002842264] Chr11:6632723 [GRCh38]
Chr11:6653954 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.2908G>A (p.Ala970Thr) single nucleotide variant not provided [RCV003016403] Chr11:6632604 [GRCh38]
Chr11:6653835 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.479C>T (p.Thr160Ile) single nucleotide variant Inborn genetic diseases [RCV002841495] Chr11:6641135 [GRCh38]
Chr11:6662366 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.8594C>T (p.Thr2865Ile) single nucleotide variant Inborn genetic diseases [RCV002860512] Chr11:6623082 [GRCh38]
Chr11:6644313 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.1206T>G (p.Asn402Lys) single nucleotide variant not provided [RCV002755147] Chr11:6640408 [GRCh38]
Chr11:6661639 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.6576+4C>T single nucleotide variant not provided [RCV003075085] Chr11:6626165 [GRCh38]
Chr11:6647396 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.5542G>A (p.Ala1848Thr) single nucleotide variant Inborn genetic diseases [RCV002817600] Chr11:6627497 [GRCh38]
Chr11:6648728 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.8481G>A (p.Arg2827_Arg2828=) single nucleotide variant not provided [RCV002615191] Chr11:6623195 [GRCh38]
Chr11:6644426 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.3676-19del deletion not provided [RCV003013953] Chr11:6631426 [GRCh38]
Chr11:6652657 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.7384C>T (p.Arg2462Trp) single nucleotide variant not provided [RCV002993801] Chr11:6624292 [GRCh38]
Chr11:6645523 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.6952C>T (p.Pro2318Ser) single nucleotide variant not provided [RCV002971023] Chr11:6625392 [GRCh38]
Chr11:6646623 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.776G>A (p.Arg259His) single nucleotide variant not provided [RCV002971494] Chr11:6640838 [GRCh38]
Chr11:6662069 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.5145G>A (p.Glu1715_Glu1716=) single nucleotide variant not provided [RCV002858432] Chr11:6629468 [GRCh38]
Chr11:6650699 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.5385A>G (p.Ser1795_Gly1796=) single nucleotide variant not provided [RCV002616206] Chr11:6627654 [GRCh38]
Chr11:6648885 [GRCh37]
Chr11:11p15.4		 benign
NM_003737.4(DCHS1):c.6573G>A (p.Leu2191_Gln2192=) single nucleotide variant not provided [RCV003015949] Chr11:6626172 [GRCh38]
Chr11:6647403 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.5019A>C (p.Ala1673_Thr1674=) single nucleotide variant not provided [RCV002861600] Chr11:6629688 [GRCh38]
Chr11:6650919 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.6228G>A (p.Thr2076_Ile2077=) single nucleotide variant not provided [RCV003033499] Chr11:6626811 [GRCh38]
Chr11:6648042 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.2489G>C (p.Gly830Ala) single nucleotide variant Inborn genetic diseases [RCV002969761] Chr11:6633023 [GRCh38]
Chr11:6654254 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.9448A>G (p.Ile3150Val) single nucleotide variant not provided [RCV002508532] Chr11:6622228 [GRCh38]
Chr11:6643459 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.1833C>T (p.Gly611_Leu612=) single nucleotide variant not provided [RCV002815693] Chr11:6634271 [GRCh38]
Chr11:6655502 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.509C>T (p.Ala170Val) single nucleotide variant Inborn genetic diseases [RCV002752873] Chr11:6641105 [GRCh38]
Chr11:6662336 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.4C>A (p.Gln2Lys) single nucleotide variant not provided [RCV002755331] Chr11:6641610 [GRCh38]
Chr11:6662841 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.5580C>G (p.Tyr1860Ter) single nucleotide variant not provided [RCV002881879] Chr11:6627459 [GRCh38]
Chr11:6648690 [GRCh37]
Chr11:11p15.4		 pathogenic
NM_003737.4(DCHS1):c.1997A>G (p.Lys666Arg) single nucleotide variant not provided [RCV003075062] Chr11:6634010 [GRCh38]
Chr11:6655241 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.4548C>T (p.Thr1516_Asp1517=) single nucleotide variant not provided [RCV003016703] Chr11:6630246 [GRCh38]
Chr11:6651477 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.9762C>T (p.Phe3254_Ser3255=) single nucleotide variant not provided [RCV002618237] Chr11:6621914 [GRCh38]
Chr11:6643145 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.9595A>G (p.Ile3199Val) single nucleotide variant Inborn genetic diseases [RCV002734436] Chr11:6622081 [GRCh38]
Chr11:6643312 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.8093A>G (p.Asp2698Gly) single nucleotide variant Inborn genetic diseases [RCV002728464] Chr11:6623583 [GRCh38]
Chr11:6644814 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.4155A>C (p.Ser1385_Gly1386=) single nucleotide variant not provided [RCV003033370] Chr11:6630639 [GRCh38]
Chr11:6651870 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.4924G>C (p.Val1642Leu) single nucleotide variant not provided [RCV003016902] Chr11:6629783 [GRCh38]
Chr11:6651014 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.7329C>A (p.Asp2443Glu) single nucleotide variant not provided [RCV002618241] Chr11:6624347 [GRCh38]
Chr11:6645578 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.4253G>T (p.Arg1418Leu) single nucleotide variant not provided [RCV002756402] Chr11:6630541 [GRCh38]
Chr11:6651772 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.1046C>T (p.Thr349Ile) single nucleotide variant not provided [RCV002994930] Chr11:6640568 [GRCh38]
Chr11:6661799 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.7957G>A (p.Asp2653Asn) single nucleotide variant not provided [RCV002996647] Chr11:6623719 [GRCh38]
Chr11:6644950 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.2974G>C (p.Gly992Arg) single nucleotide variant Inborn genetic diseases [RCV002947752]|not provided [RCV002947753] Chr11:6632538 [GRCh38]
Chr11:6653769 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.5795T>C (p.Val1932Ala) single nucleotide variant not provided [RCV002615785] Chr11:6627244 [GRCh38]
Chr11:6648475 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.4522G>A (p.Ala1508Thr) single nucleotide variant not provided [RCV002461800] Chr11:6630272 [GRCh38]
Chr11:6651503 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.8586C>G (p.Asn2862Lys) single nucleotide variant not provided [RCV002970630] Chr11:6623090 [GRCh38]
Chr11:6644321 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.2625C>T (p.Phe875_Ala876=) single nucleotide variant not provided [RCV002775364] Chr11:6632887 [GRCh38]
Chr11:6654118 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.644G>A (p.Arg215Gln) single nucleotide variant Inborn genetic diseases [RCV002973944]|not provided [RCV003111731] Chr11:6640970 [GRCh38]
Chr11:6662201 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.6727A>G (p.Thr2243Ala) single nucleotide variant not provided [RCV002685708] Chr11:6625924 [GRCh38]
Chr11:6647155 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.2626G>A (p.Ala876Thr) single nucleotide variant Inborn genetic diseases [RCV002990313] Chr11:6632886 [GRCh38]
Chr11:6654117 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.2266G>T (p.Val756Leu) single nucleotide variant not provided [RCV003014626] Chr11:6633601 [GRCh38]
Chr11:6654832 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.1732T>C (p.Phe578Leu) single nucleotide variant Inborn genetic diseases [RCV002772835] Chr11:6639882 [GRCh38]
Chr11:6661113 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.4354G>C (p.Gly1452Arg) single nucleotide variant not provided [RCV002462400] Chr11:6630440 [GRCh38]
Chr11:6651671 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.8894G>A (p.Ser2965Asn) single nucleotide variant not provided [RCV002690128] Chr11:6622782 [GRCh38]
Chr11:6644013 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.6520C>T (p.Pro2174Ser) single nucleotide variant Inborn genetic diseases [RCV002902207] Chr11:6626225 [GRCh38]
Chr11:6647456 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.8051G>C (p.Gly2684Ala) single nucleotide variant Inborn genetic diseases [RCV002883102] Chr11:6623625 [GRCh38]
Chr11:6644856 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.3722C>T (p.Ala1241Val) single nucleotide variant not provided [RCV002461830] Chr11:6631361 [GRCh38]
Chr11:6652592 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.9119A>C (p.Glu3040Ala) single nucleotide variant not provided [RCV002617728] Chr11:6622557 [GRCh38]
Chr11:6643788 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.1084A>C (p.Met362Leu) single nucleotide variant not provided [RCV002800207] Chr11:6640530 [GRCh38]
Chr11:6661761 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.6750A>G (p.Thr2250_Asp2251=) single nucleotide variant not provided [RCV002871228] Chr11:6625709 [GRCh38]
Chr11:6646940 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.2022T>A (p.Phe674Leu) single nucleotide variant not provided [RCV002623178] Chr11:6633985 [GRCh38]
Chr11:6655216 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.2522C>T (p.Ala841Val) single nucleotide variant not provided [RCV002800378] Chr11:6632990 [GRCh38]
Chr11:6654221 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.2612T>C (p.Val871Ala) single nucleotide variant not provided [RCV003055615] Chr11:6632900 [GRCh38]
Chr11:6654131 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.6070C>T (p.Arg2024Cys) single nucleotide variant not provided [RCV002780529] Chr11:6626969 [GRCh38]
Chr11:6648200 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.5824A>T (p.Thr1942Ser) single nucleotide variant Inborn genetic diseases [RCV002884773] Chr11:6627215 [GRCh38]
Chr11:6648446 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.3482-5C>G single nucleotide variant not provided [RCV003054463] Chr11:6631814 [GRCh38]
Chr11:6653045 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.7275C>G (p.Asp2425Glu) single nucleotide variant not provided [RCV002663111] Chr11:6624740 [GRCh38]
Chr11:6645971 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.3931-15C>G single nucleotide variant not provided [RCV002740487] Chr11:6630878 [GRCh38]
Chr11:6652109 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.6466G>A (p.Val2156Met) single nucleotide variant Inborn genetic diseases [RCV002798992] Chr11:6626279 [GRCh38]
Chr11:6647510 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.6330T>C (p.Asn2110_Glu2111=) single nucleotide variant not provided [RCV003003265] Chr11:6626586 [GRCh38]
Chr11:6647817 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.9024C>T (p.Pro3008_Ser3009=) single nucleotide variant not provided [RCV002786083] Chr11:6622652 [GRCh38]
Chr11:6643883 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.4163T>G (p.Leu1388Trp) single nucleotide variant not provided [RCV003003280] Chr11:6630631 [GRCh38]
Chr11:6651862 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.1270G>T (p.Val424Leu) single nucleotide variant not provided [RCV002572007] Chr11:6640344 [GRCh38]
Chr11:6661575 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.1469G>A (p.Ser490Asn) single nucleotide variant not provided [RCV003019509] Chr11:6640145 [GRCh38]
Chr11:6661376 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.6262G>T (p.Val2088Phe) single nucleotide variant Inborn genetic diseases [RCV002694684] Chr11:6626654 [GRCh38]
Chr11:6647885 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.607C>T (p.Pro203Ser) single nucleotide variant not provided [RCV002572036] Chr11:6641007 [GRCh38]
Chr11:6662238 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.9155G>A (p.Arg3052His) single nucleotide variant Inborn genetic diseases [RCV002909823]|not provided [RCV002928112] Chr11:6622521 [GRCh38]
Chr11:6643752 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.4898A>G (p.Gln1633Arg) single nucleotide variant not provided [RCV002570051] Chr11:6629809 [GRCh38]
Chr11:6651040 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.5789G>A (p.Ser1930Asn) single nucleotide variant not provided [RCV002623196] Chr11:6627250 [GRCh38]
Chr11:6648481 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.6335A>C (p.Lys2112Thr) single nucleotide variant not provided [RCV003003264] Chr11:6626581 [GRCh38]
Chr11:6647812 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.991G>T (p.Val331Leu) single nucleotide variant not provided [RCV002571743] Chr11:6640623 [GRCh38]
Chr11:6661854 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.8309G>A (p.Arg2770Gln) single nucleotide variant not provided [RCV002658501] Chr11:6623367 [GRCh38]
Chr11:6644598 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.1765G>A (p.Glu589Lys) single nucleotide variant Inborn genetic diseases [RCV002715967]|not provided [RCV002740079] Chr11:6639849 [GRCh38]
Chr11:6661080 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.9051A>G (p.Gly3017_Pro3018=) single nucleotide variant not provided [RCV003020096] Chr11:6622625 [GRCh38]
Chr11:6643856 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.5303C>A (p.Thr1768Asn) single nucleotide variant not provided [RCV002622819] Chr11:6628689 [GRCh38]
Chr11:6649920 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.8470G>A (p.Glu2824Lys) single nucleotide variant not provided [RCV002690730] Chr11:6623206 [GRCh38]
Chr11:6644437 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.1663C>G (p.Leu555Val) single nucleotide variant not provided [RCV003035496] Chr11:6639951 [GRCh38]
Chr11:6661182 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.4795+15T>C single nucleotide variant not provided [RCV003002921] Chr11:6629984 [GRCh38]
Chr11:6651215 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.378C>T (p.Thr126_Val127=) single nucleotide variant not provided [RCV002590850] Chr11:6641236 [GRCh38]
Chr11:6662467 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.4603T>G (p.Phe1535Val) single nucleotide variant not provided [RCV002999243] Chr11:6630191 [GRCh38]
Chr11:6651422 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.8703G>A (p.Glu2901_Val2902=) single nucleotide variant not provided [RCV002868013] Chr11:6622973 [GRCh38]
Chr11:6644204 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.805G>A (p.Ala269Thr) single nucleotide variant Inborn genetic diseases [RCV002822439] Chr11:6640809 [GRCh38]
Chr11:6662040 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.4691C>G (p.Ala1564Gly) single nucleotide variant not provided [RCV003080071] Chr11:6630103 [GRCh38]
Chr11:6651334 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.7544A>G (p.His2515Arg) single nucleotide variant not provided [RCV002760871] Chr11:6624132 [GRCh38]
Chr11:6645363 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.4266G>A (p.Val1422_Gln1423=) single nucleotide variant not provided [RCV002820659] Chr11:6630528 [GRCh38]
Chr11:6651759 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.1671T>C (p.Pro557_Leu558=) single nucleotide variant not provided [RCV003036513] Chr11:6639943 [GRCh38]
Chr11:6661174 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.6500A>G (p.Asn2167Ser) single nucleotide variant not provided [RCV003079320] Chr11:6626245 [GRCh38]
Chr11:6647476 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.443C>G (p.Ala148Gly) single nucleotide variant not provided [RCV003020526] Chr11:6641171 [GRCh38]
Chr11:6662402 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.1189G>C (p.Asp397His) single nucleotide variant not provided [RCV002760891] Chr11:6640425 [GRCh38]
Chr11:6661656 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.7493G>T (p.Gly2498Val) single nucleotide variant not provided [RCV003035930] Chr11:6624183 [GRCh38]
Chr11:6645414 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.2087C>T (p.Ala696Val) single nucleotide variant not provided [RCV002948981] Chr11:6633920 [GRCh38]
Chr11:6655151 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.6358A>G (p.Ser2120Gly) single nucleotide variant not provided [RCV002820840] Chr11:6626558 [GRCh38]
Chr11:6647789 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.7413G>A (p.Gln2471_Leu2472=) single nucleotide variant not provided [RCV002781225] Chr11:6624263 [GRCh38]
Chr11:6645494 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.2293G>A (p.Gly765Arg) single nucleotide variant not provided [RCV002948969] Chr11:6633574 [GRCh38]
Chr11:6654805 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.9553C>T (p.Arg3185Trp) single nucleotide variant not provided [RCV002979386] Chr11:6622123 [GRCh38]
Chr11:6643354 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.2468C>T (p.Pro823Leu) single nucleotide variant Inborn genetic diseases [RCV002845039] Chr11:6633044 [GRCh38]
Chr11:6654275 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.6250+13C>T single nucleotide variant not provided [RCV002590595] Chr11:6626776 [GRCh38]
Chr11:6648007 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.3463C>T (p.Arg1155Cys) single nucleotide variant Inborn genetic diseases [RCV002693389] Chr11:6632049 [GRCh38]
Chr11:6653280 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.8000G>C (p.Cys2667Ser) single nucleotide variant not provided [RCV002780588] Chr11:6623676 [GRCh38]
Chr11:6644907 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.201G>A (p.Gly67_Leu68=) single nucleotide variant not provided [RCV002923690] Chr11:6641413 [GRCh38]
Chr11:6662644 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.1950C>T (p.Pro650_Ser651=) single nucleotide variant not provided [RCV003036373] Chr11:6634154 [GRCh38]
Chr11:6655385 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.3328A>C (p.Thr1110Pro) single nucleotide variant not provided [RCV002923899] Chr11:6632184 [GRCh38]
Chr11:6653415 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.5241T>C (p.His1747_Ala1748=) single nucleotide variant not provided [RCV003035372] Chr11:6628751 [GRCh38]
Chr11:6649982 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.6789G>C (p.Leu2263Phe) single nucleotide variant not provided [RCV002510182] Chr11:6625670 [GRCh38]
Chr11:6646901 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.6576+8G>A single nucleotide variant not provided [RCV002658582] Chr11:6626161 [GRCh38]
Chr11:6647392 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.3742G>A (p.Glu1248Lys) single nucleotide variant not provided [RCV002999645] Chr11:6631341 [GRCh38]
Chr11:6652572 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.8323T>C (p.Tyr2775His) single nucleotide variant Inborn genetic diseases [RCV003000859] Chr11:6623353 [GRCh38]
Chr11:6644584 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.8245G>A (p.Gly2749Arg) single nucleotide variant not provided [RCV002695416] Chr11:6623431 [GRCh38]
Chr11:6644662 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.7428C>T (p.Asn2476_Asp2477=) single nucleotide variant not provided [RCV002999406] Chr11:6624248 [GRCh38]
Chr11:6645479 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.5768C>T (p.Pro1923Leu) single nucleotide variant not provided [RCV003002369] Chr11:6627271 [GRCh38]
Chr11:6648502 [GRCh37]
Chr11:11p15.4		 benign
NM_003737.4(DCHS1):c.5715G>A (p.Glu1905_Pro1906=) single nucleotide variant not provided [RCV002622179] Chr11:6627324 [GRCh38]
Chr11:6648555 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.3931-15C>T single nucleotide variant not provided [RCV002590524] Chr11:6630878 [GRCh38]
Chr11:6652109 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.6277G>A (p.Val2093Ile) single nucleotide variant not provided [RCV002846789] Chr11:6626639 [GRCh38]
Chr11:6647870 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.867T>G (p.Ala289_Val290=) single nucleotide variant not provided [RCV002639750] Chr11:6640747 [GRCh38]
Chr11:6661978 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.8366A>G (p.Asp2789Gly) single nucleotide variant Inborn genetic diseases [RCV002911001] Chr11:6623310 [GRCh38]
Chr11:6644541 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.486C>T (p.Tyr162_Pro163=) single nucleotide variant not provided [RCV003037979] Chr11:6641128 [GRCh38]
Chr11:6662359 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.3309C>T (p.Pro1103_Arg1104=) single nucleotide variant not provided [RCV002847906] Chr11:6632203 [GRCh38]
Chr11:6653434 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.3481+9A>G single nucleotide variant not provided [RCV002999252] Chr11:6632022 [GRCh38]
Chr11:6653253 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.5847G>A (p.Thr1949_Val1950=) single nucleotide variant not provided [RCV002979652] Chr11:6627192 [GRCh38]
Chr11:6648423 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.9791G>A (p.Arg3264His) single nucleotide variant not provided [RCV002761347] Chr11:6621885 [GRCh38]
Chr11:6643116 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.2735C>T (p.Pro912Leu) single nucleotide variant not provided [RCV002756747] Chr11:6632777 [GRCh38]
Chr11:6654008 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.9787G>A (p.Ala3263Thr) single nucleotide variant Inborn genetic diseases [RCV002622627]|not provided [RCV002622626] Chr11:6621889 [GRCh38]
Chr11:6643120 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.6459C>G (p.Ala2153_Phe2154=) single nucleotide variant not provided [RCV002637008] Chr11:6626286 [GRCh38]
Chr11:6647517 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.1286G>A (p.Arg429Gln) single nucleotide variant Inborn genetic diseases [RCV002704873] Chr11:6640328 [GRCh38]
Chr11:6661559 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.5027C>T (p.Pro1676Leu) single nucleotide variant not provided [RCV002780623] Chr11:6629680 [GRCh38]
Chr11:6650911 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.440G>C (p.Arg147Pro) single nucleotide variant Inborn genetic diseases [RCV002884327] Chr11:6641174 [GRCh38]
Chr11:6662405 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.6576+7_6576+8delinsTT indel not provided [RCV002847973] Chr11:6626161..6626162 [GRCh38]
Chr11:6647392..6647393 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.5041A>G (p.Asn1681Asp) single nucleotide variant not provided [RCV002948793] Chr11:6629572 [GRCh38]
Chr11:6650803 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.783T>C (p.His261_Ala262=) single nucleotide variant not provided [RCV003037171] Chr11:6640831 [GRCh38]
Chr11:6662062 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.2251C>T (p.Arg751Trp) single nucleotide variant not provided [RCV002621081] Chr11:6633616 [GRCh38]
Chr11:6654847 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.384A>C (p.Glu128Asp) single nucleotide variant Inborn genetic diseases [RCV002886980] Chr11:6641230 [GRCh38]
Chr11:6662461 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.4872C>T (p.His1624_Gly1625=) single nucleotide variant not provided [RCV002735162] Chr11:6629835 [GRCh38]
Chr11:6651066 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.1476A>G (p.Val492_Val493=) single nucleotide variant not provided [RCV002622142] Chr11:6640138 [GRCh38]
Chr11:6661369 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.2078G>C (p.Ser693Thr) single nucleotide variant Inborn genetic diseases [RCV002757047] Chr11:6633929 [GRCh38]
Chr11:6655160 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.9841G>T (p.Ala3281Ser) single nucleotide variant not provided [RCV002886174] Chr11:6621835 [GRCh38]
Chr11:6643066 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.3830C>G (p.Ala1277Gly) single nucleotide variant not provided [RCV003019175] Chr11:6631153 [GRCh38]
Chr11:6652384 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.5551C>T (p.His1851Tyr) single nucleotide variant Inborn genetic diseases [RCV002911661] Chr11:6627488 [GRCh38]
Chr11:6648719 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.7031G>A (p.Arg2344His) single nucleotide variant not provided [RCV002695070] Chr11:6625313 [GRCh38]
Chr11:6646544 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.9709T>C (p.Ser3237Pro) single nucleotide variant Inborn genetic diseases [RCV002911275] Chr11:6621967 [GRCh38]
Chr11:6643198 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.2252G>A (p.Arg751Gln) single nucleotide variant not provided [RCV002638724] Chr11:6633615 [GRCh38]
Chr11:6654846 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.6821G>A (p.Arg2274His) single nucleotide variant not provided [RCV003002368] Chr11:6625638 [GRCh38]
Chr11:6646869 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.7223A>G (p.Asn2408Ser) single nucleotide variant not provided [RCV002636668] Chr11:6624792 [GRCh38]
Chr11:6646023 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.4913G>T (p.Ser1638Ile) single nucleotide variant not provided [RCV003002707] Chr11:6629794 [GRCh38]
Chr11:6651025 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.9093T>C (p.Ser3031_Gly3032=) single nucleotide variant not provided [RCV002866685] Chr11:6622583 [GRCh38]
Chr11:6643814 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.8745A>C (p.Thr2915_Val2916=) single nucleotide variant not provided [RCV003053651] Chr11:6622931 [GRCh38]
Chr11:6644162 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.8952C>T (p.Asp2984_Ser2985=) single nucleotide variant not provided [RCV002953260] Chr11:6622724 [GRCh38]
Chr11:6643955 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.6393G>A (p.Gly2131_Leu2132=) single nucleotide variant not provided [RCV003079515] Chr11:6626352 [GRCh38]
Chr11:6647583 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.8665C>T (p.Arg2889Trp) single nucleotide variant Inborn genetic diseases [RCV002848522] Chr11:6623011 [GRCh38]
Chr11:6644242 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.1285C>T (p.Arg429Trp) single nucleotide variant not provided [RCV002591523] Chr11:6640329 [GRCh38]
Chr11:6661560 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.6445G>A (p.Gly2149Arg) single nucleotide variant not provided [RCV002695747] Chr11:6626300 [GRCh38]
Chr11:6647531 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.5313G>A (p.Met1771Ile) single nucleotide variant not provided [RCV002756894] Chr11:6628679 [GRCh38]
Chr11:6649910 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.8480G>A (p.Arg2827Gln) single nucleotide variant not provided [RCV002590368] Chr11:6623196 [GRCh38]
Chr11:6644427 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.375C>T (p.Ala125_Thr126=) single nucleotide variant not provided [RCV003039856] Chr11:6641239 [GRCh38]
Chr11:6662470 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.1813G>A (p.Ala605Thr) single nucleotide variant not provided [RCV002596111] Chr11:6634291 [GRCh38]
Chr11:6655522 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.8151G>A (p.Glu2717_Asn2718=) single nucleotide variant not provided [RCV002594162] Chr11:6623525 [GRCh38]
Chr11:6644756 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.3482-18G>A single nucleotide variant not provided [RCV002575792] Chr11:6631827 [GRCh38]
Chr11:6653058 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.8781G>A (p.Leu2927_Gly2928=) single nucleotide variant not provided [RCV002918212] Chr11:6622895 [GRCh38]
Chr11:6644126 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.8304T>C (p.Arg2768_Ala2769=) single nucleotide variant not provided [RCV002830001] Chr11:6623372 [GRCh38]
Chr11:6644603 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.3723G>A (p.Ala1241_Lys1242=) single nucleotide variant not provided [RCV003084827] Chr11:6631360 [GRCh38]
Chr11:6652591 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.490C>T (p.Leu164_Glu165=) single nucleotide variant not provided [RCV002894626] Chr11:6641124 [GRCh38]
Chr11:6662355 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.6747C>T (p.Ala2249_Thr2250=) single nucleotide variant not provided [RCV003005460] Chr11:6625712 [GRCh38]
Chr11:6646943 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.5295C>G (p.Asp1765Glu) single nucleotide variant Inborn genetic diseases [RCV002958208]|not provided [RCV002958207] Chr11:6628697 [GRCh38]
Chr11:6649928 [GRCh37]
Chr11:11p15.4		 likely benign|uncertain significance
NM_003737.4(DCHS1):c.7333T>C (p.Ser2445Pro) single nucleotide variant not provided [RCV003059481] Chr11:6624343 [GRCh38]
Chr11:6645574 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.4235C>T (p.Pro1412Leu) single nucleotide variant not provided [RCV002918535] Chr11:6630559 [GRCh38]
Chr11:6651790 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.269C>T (p.Thr90Ile) single nucleotide variant not provided [RCV002575601] Chr11:6641345 [GRCh38]
Chr11:6662576 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.1978G>A (p.Val660Met) single nucleotide variant not provided [RCV002712159] Chr11:6634126 [GRCh38]
Chr11:6655357 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.87G>A (p.Leu29_Leu30=) single nucleotide variant not provided [RCV002933285] Chr11:6641527 [GRCh38]
Chr11:6662758 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.8658T>C (p.Gly2886_Gly2887=) single nucleotide variant not provided [RCV003025352] Chr11:6623018 [GRCh38]
Chr11:6644249 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.2965C>G (p.Gln989Glu) single nucleotide variant not provided [RCV002917532] Chr11:6632547 [GRCh38]
Chr11:6653778 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.886C>T (p.Arg296Trp) single nucleotide variant not provided [RCV002711390] Chr11:6640728 [GRCh38]
Chr11:6661959 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.171G>A (p.Ala57_Gly58=) single nucleotide variant not provided [RCV002786732] Chr11:6641443 [GRCh38]
Chr11:6662674 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.5456C>G (p.Pro1819Arg) single nucleotide variant not provided [RCV002642890] Chr11:6627583 [GRCh38]
Chr11:6648814 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.6896C>G (p.Thr2299Arg) single nucleotide variant not provided [RCV002663291] Chr11:6625448 [GRCh38]
Chr11:6646679 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.8713C>T (p.Arg2905Trp) single nucleotide variant not provided [RCV003022987] Chr11:6622963 [GRCh38]
Chr11:6644194 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.3890G>A (p.Gly1297Asp) single nucleotide variant not provided [RCV002917644] Chr11:6631093 [GRCh38]
Chr11:6652324 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.8569C>G (p.Pro2857Ala) single nucleotide variant not provided [RCV002917799] Chr11:6623107 [GRCh38]
Chr11:6644338 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.4135T>C (p.Phe1379Leu) single nucleotide variant Inborn genetic diseases [RCV002929392] Chr11:6630659 [GRCh38]
Chr11:6651890 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.3948C>T (p.Arg1316_Leu1317=) single nucleotide variant not provided [RCV003082681] Chr11:6630846 [GRCh38]
Chr11:6652077 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.8014C>T (p.Arg2672Ter) single nucleotide variant not provided [RCV003056986] Chr11:6623662 [GRCh38]
Chr11:6644893 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.628A>G (p.Thr210Ala) single nucleotide variant not provided [RCV002710062] Chr11:6640986 [GRCh38]
Chr11:6662217 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.8015G>A (p.Arg2672Gln) single nucleotide variant not provided [RCV002572906] Chr11:6623661 [GRCh38]
Chr11:6644892 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.8100T>C (p.Asn2700_Asp2701=) single nucleotide variant not provided [RCV002828085] Chr11:6623576 [GRCh38]
Chr11:6644807 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.467C>T (p.Thr156Ile) single nucleotide variant not provided [RCV002765561] Chr11:6641147 [GRCh38]
Chr11:6662378 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.575G>T (p.Arg192Leu) single nucleotide variant not provided [RCV002917529] Chr11:6641039 [GRCh38]
Chr11:6662270 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.3772+9G>A single nucleotide variant not provided [RCV002741463] Chr11:6631302 [GRCh38]
Chr11:6652533 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.4915G>A (p.Val1639Ile) single nucleotide variant not provided [RCV003006407] Chr11:6629792 [GRCh38]
Chr11:6651023 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.8566T>A (p.Ser2856Thr) single nucleotide variant not provided [RCV002623520] Chr11:6623110 [GRCh38]
Chr11:6644341 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.5940C>T (p.Thr1980_Leu1981=) single nucleotide variant not provided [RCV002741486] Chr11:6627099 [GRCh38]
Chr11:6648330 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.4938G>C (p.Ala1646_Pro1647=) single nucleotide variant not provided [RCV003006096] Chr11:6629769 [GRCh38]
Chr11:6651000 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.4338A>G (p.Pro1446_Glu1447=) single nucleotide variant not provided [RCV002954105] Chr11:6630456 [GRCh38]
Chr11:6651687 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.4701G>A (p.Val1567_Val1568=) single nucleotide variant not provided [RCV002625172] Chr11:6630093 [GRCh38]
Chr11:6651324 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.7463G>A (p.Arg2488His) single nucleotide variant Inborn genetic diseases [RCV002743361] Chr11:6624213 [GRCh38]
Chr11:6645444 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.9328G>C (p.Glu3110Gln) single nucleotide variant not provided [RCV002663734] Chr11:6622348 [GRCh38]
Chr11:6643579 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.7387G>A (p.Ala2463Thr) single nucleotide variant not provided [RCV003055919] Chr11:6624289 [GRCh38]
Chr11:6645520 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.8994C>T (p.Pro2998_Ser2999=) single nucleotide variant not provided [RCV002828453] Chr11:6622682 [GRCh38]
Chr11:6643913 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.3972C>T (p.Leu1324_Ala1325=) single nucleotide variant not provided [RCV002572520] Chr11:6630822 [GRCh38]
Chr11:6652053 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.4783C>T (p.His1595Tyr) single nucleotide variant not provided [RCV002918888] Chr11:6630011 [GRCh38]
Chr11:6651242 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.76CTG[6] (p.Leu32_Leu33del) microsatellite not provided [RCV002596997] Chr11:6641515..6641520 [GRCh38]
Chr11:6662746..6662751 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.6189G>C (p.Glu2063Asp) single nucleotide variant not provided [RCV002958825] Chr11:6626850 [GRCh38]
Chr11:6648081 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.7923C>T (p.Val2641_Ser2642=) single nucleotide variant not provided [RCV002805527] Chr11:6623753 [GRCh38]
Chr11:6644984 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.7191C>T (p.Ser2397_Val2398=) single nucleotide variant not provided [RCV002575318] Chr11:6624824 [GRCh38]
Chr11:6646055 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.1482G>A (p.Arg494_Val495=) single nucleotide variant not provided [RCV003041500] Chr11:6640132 [GRCh38]
Chr11:6661363 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.3170G>A (p.Arg1057Gln) single nucleotide variant Inborn genetic diseases [RCV002572336]|not provided [RCV002572337] Chr11:6632342 [GRCh38]
Chr11:6653573 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.8700G>A (p.Leu2900_Glu2901=) single nucleotide variant not provided [RCV003057244] Chr11:6622976 [GRCh38]
Chr11:6644207 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.5362C>T (p.Arg1788Cys) single nucleotide variant not provided [RCV002918967] Chr11:6628630 [GRCh38]
Chr11:6649861 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.1402A>C (p.Asn468His) single nucleotide variant Inborn genetic diseases [RCV002664784] Chr11:6640212 [GRCh38]
Chr11:6661443 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.7500T>G (p.Thr2500_Leu2501=) single nucleotide variant not provided [RCV002917812] Chr11:6624176 [GRCh38]
Chr11:6645407 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.4557C>T (p.Pro1519_Ala1520=) single nucleotide variant not provided [RCV003085617] Chr11:6630237 [GRCh38]
Chr11:6651468 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.3119G>A (p.Gly1040Glu) single nucleotide variant not provided [RCV003040093] Chr11:6632393 [GRCh38]
Chr11:6653624 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.9250C>T (p.Pro3084Ser) single nucleotide variant Inborn genetic diseases [RCV002625253]|not provided [RCV002625252] Chr11:6622426 [GRCh38]
Chr11:6643657 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.8078C>T (p.Thr2693Ile) single nucleotide variant not provided [RCV003056512] Chr11:6623598 [GRCh38]
Chr11:6644829 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.5169C>T (p.Ala1723_Gln1724=) single nucleotide variant not provided [RCV002790520] Chr11:6628823 [GRCh38]
Chr11:6650054 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.5371+13C>T single nucleotide variant not provided [RCV002593676] Chr11:6628608 [GRCh38]
Chr11:6649839 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.1772_1773inv (p.Thr591Arg) inversion not provided [RCV003039884] Chr11:6639841..6639842 [GRCh38]
Chr11:6661072..6661073 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.4222C>T (p.Arg1408Cys) single nucleotide variant Inborn genetic diseases [RCV002697644] Chr11:6630572 [GRCh38]
Chr11:6651803 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.7658G>A (p.Cys2553Tyr) single nucleotide variant not provided [RCV002575432] Chr11:6624018 [GRCh38]
Chr11:6645249 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.5513C>T (p.Thr1838Met) single nucleotide variant not provided [RCV003007292] Chr11:6627526 [GRCh38]
Chr11:6648757 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.2690C>T (p.Pro897Leu) single nucleotide variant not provided [RCV003042931] Chr11:6632822 [GRCh38]
Chr11:6654053 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.6550C>T (p.Arg2184Trp) single nucleotide variant Inborn genetic diseases [RCV002745106] Chr11:6626195 [GRCh38]
Chr11:6647426 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.8121A>G (p.Pro2707_Leu2708=) single nucleotide variant not provided [RCV002786406] Chr11:6623555 [GRCh38]
Chr11:6644786 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.2982T>C (p.Arg994_Gly995=) single nucleotide variant not provided [RCV002594443] Chr11:6632530 [GRCh38]
Chr11:6653761 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.6576+1G>T single nucleotide variant not provided [RCV003042388] Chr11:6626168 [GRCh38]
Chr11:6647399 [GRCh37]
Chr11:11p15.4		 likely pathogenic
NM_003737.4(DCHS1):c.6532G>T (p.Ala2178Ser) single nucleotide variant not provided [RCV002800623] Chr11:6626213 [GRCh38]
Chr11:6647444 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.4005C>A (p.Val1335_Val1336=) single nucleotide variant not provided [RCV003024876] Chr11:6630789 [GRCh38]
Chr11:6652020 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.5205C>G (p.Val1735_Thr1736=) single nucleotide variant not provided [RCV002594479] Chr11:6628787 [GRCh38]
Chr11:6650018 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.5603T>C (p.Val1868Ala) single nucleotide variant not provided [RCV003024614] Chr11:6627436 [GRCh38]
Chr11:6648667 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.1421G>A (p.Arg474His) single nucleotide variant Inborn genetic diseases [RCV002698712] Chr11:6640193 [GRCh38]
Chr11:6661424 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.5133A>G (p.Arg1711_Glu1712=) single nucleotide variant not provided [RCV002830239] Chr11:6629480 [GRCh38]
Chr11:6650711 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.8885G>A (p.Arg2962Gln) single nucleotide variant Inborn genetic diseases [RCV002765210] Chr11:6622791 [GRCh38]
Chr11:6644022 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.4392C>A (p.Asp1464Glu) single nucleotide variant not provided [RCV002828872] Chr11:6630402 [GRCh38]
Chr11:6651633 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.4933G>A (p.Glu1645Lys) single nucleotide variant not provided [RCV002663310] Chr11:6629774 [GRCh38]
Chr11:6651005 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.5955A>C (p.Thr1985_Leu1986=) single nucleotide variant not provided [RCV002700423] Chr11:6627084 [GRCh38]
Chr11:6648315 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.2927C>T (p.Pro976Leu) single nucleotide variant not provided [RCV002575125] Chr11:6632585 [GRCh38]
Chr11:6653816 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.8714G>A (p.Arg2905Gln) single nucleotide variant not provided [RCV002596056] Chr11:6622962 [GRCh38]
Chr11:6644193 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.259G>A (p.Gly87Ser) single nucleotide variant not provided [RCV002643840] Chr11:6641355 [GRCh38]
Chr11:6662586 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.4026T>C (p.Ala1342_Glu1343=) single nucleotide variant not provided [RCV002667449] Chr11:6630768 [GRCh38]
Chr11:6651999 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.1774_1775del (p.Gln592fs) deletion not provided [RCV003039883] Chr11:6639839..6639840 [GRCh38]
Chr11:6661070..6661071 [GRCh37]
Chr11:11p15.4		 pathogenic
NM_003737.4(DCHS1):c.1634A>G (p.Gln545Arg) single nucleotide variant not provided [RCV002711306] Chr11:6639980 [GRCh38]
Chr11:6661211 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.1666C>A (p.Pro556Thr) single nucleotide variant not provided [RCV003042368] Chr11:6639948 [GRCh38]
Chr11:6661179 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.8233C>T (p.Leu2745_Leu2746=) single nucleotide variant not provided [RCV002894660] Chr11:6623443 [GRCh38]
Chr11:6644674 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.6011C>T (p.Ala2004Val) single nucleotide variant not provided [RCV003057081] Chr11:6627028 [GRCh38]
Chr11:6648259 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.3476A>C (p.Gln1159Pro) single nucleotide variant not provided [RCV002711688] Chr11:6632036 [GRCh38]
Chr11:6653267 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.3311G>A (p.Arg1104His) single nucleotide variant not provided [RCV002644069] Chr11:6632201 [GRCh38]
Chr11:6653432 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.1283G>A (p.Arg428Gln) single nucleotide variant not provided [RCV002766074] Chr11:6640331 [GRCh38]
Chr11:6661562 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.1629G>A (p.Gln543_Pro544=) single nucleotide variant not provided [RCV003083689] Chr11:6639985 [GRCh38]
Chr11:6661216 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.6227C>T (p.Thr2076Met) single nucleotide variant not provided [RCV002573817] Chr11:6626812 [GRCh38]
Chr11:6648043 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.7439C>T (p.Pro2480Leu) single nucleotide variant Inborn genetic diseases [RCV002804255] Chr11:6624237 [GRCh38]
Chr11:6645468 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.1265A>G (p.Tyr422Cys) single nucleotide variant not provided [RCV002573739] Chr11:6640349 [GRCh38]
Chr11:6661580 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.1260C>T (p.Val420_Ile421=) single nucleotide variant not provided [RCV002624630] Chr11:6640354 [GRCh38]
Chr11:6661585 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.5213G>A (p.Arg1738Gln) single nucleotide variant Inborn genetic diseases [RCV002873072] Chr11:6628779 [GRCh38]
Chr11:6650010 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.1797+3G>C single nucleotide variant not provided [RCV002791093] Chr11:6639814 [GRCh38]
Chr11:6661045 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.8945C>T (p.Ala2982Val) single nucleotide variant not provided [RCV002594396] Chr11:6622731 [GRCh38]
Chr11:6643962 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.2955GGT[4] (p.Val988_Gln989insVal) microsatellite not provided [RCV002626234] Chr11:6632548..6632549 [GRCh38]
Chr11:6653779..6653780 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.5069C>T (p.Ser1690Phe) single nucleotide variant not provided [RCV003006328] Chr11:6629544 [GRCh38]
Chr11:6650775 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.5883C>T (p.Pro1961_Thr1962=) single nucleotide variant not provided [RCV002872609] Chr11:6627156 [GRCh38]
Chr11:6648387 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.4702G>A (p.Val1568Ile) single nucleotide variant not provided [RCV003025626] Chr11:6630092 [GRCh38]
Chr11:6651323 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.5115T>A (p.Thr1705_Leu1706=) single nucleotide variant not provided [RCV002889918] Chr11:6629498 [GRCh38]
Chr11:6650729 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.8607C>T (p.Tyr2869_Leu2870=) single nucleotide variant not provided [RCV003005491] Chr11:6623069 [GRCh38]
Chr11:6644300 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.3016C>T (p.Arg1006Cys) single nucleotide variant not provided [RCV002643863] Chr11:6632496 [GRCh38]
Chr11:6653727 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.860A>G (p.Asn287Ser) single nucleotide variant Inborn genetic diseases [RCV002717736] Chr11:6640754 [GRCh38]
Chr11:6661985 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.7109A>G (p.Asn2370Ser) single nucleotide variant not provided [RCV002675917] Chr11:6625235 [GRCh38]
Chr11:6646466 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.7147-7A>C single nucleotide variant not provided [RCV002627570] Chr11:6624875 [GRCh38]
Chr11:6646106 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.2443C>T (p.His815Tyr) single nucleotide variant not provided [RCV003047921] Chr11:6633424 [GRCh38]
Chr11:6654655 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.6862+11G>A single nucleotide variant not provided [RCV002631601] Chr11:6625586 [GRCh38]
Chr11:6646817 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.4586_4587delinsTT (p.Arg1529Leu) indel not provided [RCV002631783] Chr11:6630207..6630208 [GRCh38]
Chr11:6651438..6651439 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.8683C>T (p.Pro2895Ser) single nucleotide variant not provided [RCV002598108] Chr11:6622993 [GRCh38]
Chr11:6644224 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.8133C>T (p.Leu2711_Ser2712=) single nucleotide variant not provided [RCV002647664] Chr11:6623543 [GRCh38]
Chr11:6644774 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.9312C>T (p.Ala3104_Thr3105=) single nucleotide variant not provided [RCV002580054] Chr11:6622364 [GRCh38]
Chr11:6643595 [GRCh37]
Chr11:11p15.4		 benign
NM_003737.4(DCHS1):c.7203T>A (p.Thr2401_Asp2402=) single nucleotide variant not provided [RCV002631936] Chr11:6624812 [GRCh38]
Chr11:6646043 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.9477C>T (p.Gly3159_Ser3160=) single nucleotide variant not provided [RCV002582153] Chr11:6622199 [GRCh38]
Chr11:6643430 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.5120G>A (p.Arg1707Gln) single nucleotide variant not provided [RCV002580916] Chr11:6629493 [GRCh38]
Chr11:6650724 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.3288C>T (p.Leu1096_Asn1097=) single nucleotide variant not provided [RCV002631756] Chr11:6632224 [GRCh38]
Chr11:6653455 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.2095C>A (p.Pro699Thr) single nucleotide variant not provided [RCV003091438] Chr11:6633912 [GRCh38]
Chr11:6655143 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.9661G>A (p.Ala3221Thr) single nucleotide variant not provided [RCV002811805] Chr11:6622015 [GRCh38]
Chr11:6643246 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.7429G>A (p.Asp2477Asn) single nucleotide variant not provided [RCV003066072] Chr11:6624247 [GRCh38]
Chr11:6645478 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.3416G>A (p.Arg1139His) single nucleotide variant not provided [RCV002580273] Chr11:6632096 [GRCh38]
Chr11:6653327 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.521G>A (p.Arg174His) single nucleotide variant Inborn genetic diseases [RCV002646110]|not provided [RCV002605609] Chr11:6641093 [GRCh38]
Chr11:6662324 [GRCh37]
Chr11:11p15.4		 likely benign|uncertain significance
NM_003737.4(DCHS1):c.4405A>C (p.Asn1469His) single nucleotide variant Inborn genetic diseases [RCV002835926] Chr11:6630389 [GRCh38]
Chr11:6651620 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.1612T>C (p.Tyr538His) single nucleotide variant not provided [RCV002676654] Chr11:6640002 [GRCh38]
Chr11:6661233 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.9347C>G (p.Ala3116Gly) single nucleotide variant not provided [RCV002647128] Chr11:6622329 [GRCh38]
Chr11:6643560 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.1665G>T (p.Leu555_Pro556=) single nucleotide variant not provided [RCV002580908] Chr11:6639949 [GRCh38]
Chr11:6661180 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.7777C>G (p.Leu2593Val) single nucleotide variant not provided [RCV002962334] Chr11:6623899 [GRCh38]
Chr11:6645130 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.47G>A (p.Ser16Asn) single nucleotide variant not provided [RCV003049405] Chr11:6641567 [GRCh38]
Chr11:6662798 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.8197G>A (p.Gly2733Arg) single nucleotide variant not provided [RCV002676462] Chr11:6623479 [GRCh38]
Chr11:6644710 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.424G>A (p.Ala142Thr) single nucleotide variant not provided [RCV002576851] Chr11:6641190 [GRCh38]
Chr11:6662421 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.9457G>A (p.Gly3153Ser) single nucleotide variant not provided [RCV002650850] Chr11:6622219 [GRCh38]
Chr11:6643450 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.3675+18A>G single nucleotide variant not provided [RCV002720690] Chr11:6631598 [GRCh38]
Chr11:6652829 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.710C>G (p.Ala237Gly) single nucleotide variant not provided [RCV002675839] Chr11:6640904 [GRCh38]
Chr11:6662135 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.8812G>A (p.Val2938Ile) single nucleotide variant not provided [RCV002601212] Chr11:6622864 [GRCh38]
Chr11:6644095 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.520C>T (p.Arg174Cys) single nucleotide variant not provided [RCV002675626] Chr11:6641094 [GRCh38]
Chr11:6662325 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.439C>T (p.Arg147Trp) single nucleotide variant not provided [RCV002602158] Chr11:6641175 [GRCh38]
Chr11:6662406 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.924C>T (p.Asp308_Ala309=) single nucleotide variant not provided [RCV002633086] Chr11:6640690 [GRCh38]
Chr11:6661921 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.3594T>C (p.His1198_Val1199=) single nucleotide variant not provided [RCV003044677] Chr11:6631697 [GRCh38]
Chr11:6652928 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.4838C>T (p.Ala1613Val) single nucleotide variant Inborn genetic diseases [RCV002718754] Chr11:6629869 [GRCh38]
Chr11:6651100 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.6199C>T (p.Arg2067Cys) single nucleotide variant Inborn genetic diseases [RCV002941117] Chr11:6626840 [GRCh38]
Chr11:6648071 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.2248A>G (p.Arg750Gly) single nucleotide variant not provided [RCV002602267] Chr11:6633619 [GRCh38]
Chr11:6654850 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.2281G>A (p.Gly761Arg) single nucleotide variant not provided [RCV002895234] Chr11:6633586 [GRCh38]
Chr11:6654817 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.6411T>C (p.Ser2137_Pro2138=) single nucleotide variant not provided [RCV002857614] Chr11:6626334 [GRCh38]
Chr11:6647565 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.2418C>T (p.Gly806_Thr807=) single nucleotide variant not provided [RCV002966885] Chr11:6633449 [GRCh38]
Chr11:6654680 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.6649C>T (p.Arg2217Cys) single nucleotide variant not provided [RCV003063563] Chr11:6626002 [GRCh38]
Chr11:6647233 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.8757C>T (p.Thr2919_Val2920=) single nucleotide variant not provided [RCV003090464] Chr11:6622919 [GRCh38]
Chr11:6644150 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.3773-5C>T single nucleotide variant not provided [RCV002581353] Chr11:6631215 [GRCh38]
Chr11:6652446 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.5249C>T (p.Thr1750Ile) single nucleotide variant not provided [RCV002602132] Chr11:6628743 [GRCh38]
Chr11:6649974 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.8769C>T (p.Thr2923_His2924=) single nucleotide variant not provided [RCV002602498] Chr11:6622907 [GRCh38]
Chr11:6644138 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.6746C>G (p.Ala2249Gly) single nucleotide variant not provided [RCV003008449] Chr11:6625713 [GRCh38]
Chr11:6646944 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.8183T>C (p.Leu2728Pro) single nucleotide variant not provided [RCV002856422] Chr11:6623493 [GRCh38]
Chr11:6644724 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.8896C>T (p.Arg2966Cys) single nucleotide variant not provided [RCV002670882] Chr11:6622780 [GRCh38]
Chr11:6644011 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.1003C>G (p.Arg335Gly) single nucleotide variant not provided [RCV003089471] Chr11:6640611 [GRCh38]
Chr11:6661842 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.9159G>T (p.Val3053_Ala3054=) single nucleotide variant not provided [RCV002671581] Chr11:6622517 [GRCh38]
Chr11:6643748 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.6251-14C>T single nucleotide variant not provided [RCV002597790] Chr11:6626679 [GRCh38]
Chr11:6647910 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.7483C>T (p.Leu2495_Pro2496=) single nucleotide variant not provided [RCV002877551] Chr11:6624193 [GRCh38]
Chr11:6645424 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.7913G>A (p.Arg2638His) single nucleotide variant not provided [RCV003060667] Chr11:6623763 [GRCh38]
Chr11:6644994 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.4762G>A (p.Gly1588Arg) single nucleotide variant not provided [RCV003088426] Chr11:6630032 [GRCh38]
Chr11:6651263 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.215C>T (p.Thr72Met) single nucleotide variant not provided [RCV002579190] Chr11:6641399 [GRCh38]
Chr11:6662630 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.602G>A (p.Gly201Glu) single nucleotide variant not provided [RCV002834149] Chr11:6641012 [GRCh38]
Chr11:6662243 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.4795+6A>T single nucleotide variant not provided [RCV002627620] Chr11:6629993 [GRCh38]
Chr11:6651224 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.7136G>T (p.Ser2379Ile) single nucleotide variant not provided [RCV002599222] Chr11:6625208 [GRCh38]
Chr11:6646439 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.6663C>T (p.His2221_Val2222=) single nucleotide variant not provided [RCV002599452] Chr11:6625988 [GRCh38]
Chr11:6647219 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.3057C>A (p.Val1019_Leu1020=) single nucleotide variant not provided [RCV002899045] Chr11:6632455 [GRCh38]
Chr11:6653686 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.8971C>T (p.Arg2991Trp) single nucleotide variant Inborn genetic diseases [RCV002599461]|not provided [RCV002599462] Chr11:6622705 [GRCh38]
Chr11:6643936 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.709G>A (p.Ala237Thr) single nucleotide variant not provided [RCV002579017] Chr11:6640905 [GRCh38]
Chr11:6662136 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.7823G>A (p.Arg2608His) single nucleotide variant not provided [RCV002961987] Chr11:6623853 [GRCh38]
Chr11:6645084 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.8357G>A (p.Gly2786Asp) single nucleotide variant Inborn genetic diseases [RCV002919889] Chr11:6623319 [GRCh38]
Chr11:6644550 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.7364G>A (p.Arg2455Gln) single nucleotide variant not provided [RCV003009435] Chr11:6624312 [GRCh38]
Chr11:6645543 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.394C>A (p.Arg132_Val133=) single nucleotide variant not provided [RCV003086140] Chr11:6641220 [GRCh38]
Chr11:6662451 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.2459G>A (p.Arg820His) single nucleotide variant Inborn genetic diseases [RCV003092759]|not provided [RCV003086653] Chr11:6633053 [GRCh38]
Chr11:6654284 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.7451T>C (p.Leu2484Ser) single nucleotide variant not provided [RCV002601062] Chr11:6624225 [GRCh38]
Chr11:6645456 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.5971C>T (p.Arg1991Cys) single nucleotide variant not provided [RCV002631705] Chr11:6627068 [GRCh38]
Chr11:6648299 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.6867G>A (p.Ala2289_Leu2290=) single nucleotide variant not provided [RCV003088892] Chr11:6625477 [GRCh38]
Chr11:6646708 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.4795+11G>C single nucleotide variant not provided [RCV002598220] Chr11:6629988 [GRCh38]
Chr11:6651219 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.1618T>G (p.Leu540Val) single nucleotide variant Inborn genetic diseases [RCV002628776]|not provided [RCV002628775] Chr11:6639996 [GRCh38]
Chr11:6661227 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.5498C>T (p.Pro1833Leu) single nucleotide variant not provided [RCV002602024] Chr11:6627541 [GRCh38]
Chr11:6648772 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.5594C>T (p.Pro1865Leu) single nucleotide variant not provided [RCV002714886] Chr11:6627445 [GRCh38]
Chr11:6648676 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.4976G>T (p.Arg1659Leu) single nucleotide variant not provided [RCV002715364] Chr11:6629731 [GRCh38]
Chr11:6650962 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.25C>T (p.Pro9Ser) single nucleotide variant not provided [RCV002578083] Chr11:6641589 [GRCh38]
Chr11:6662820 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.2505A>G (p.Gly835_Leu836=) single nucleotide variant not provided [RCV002645980] Chr11:6633007 [GRCh38]
Chr11:6654238 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.5035+15G>T single nucleotide variant not provided [RCV002671048] Chr11:6629657 [GRCh38]
Chr11:6650888 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.8043C>T (p.Asp2681_Pro2682=) single nucleotide variant not provided [RCV002579229] Chr11:6623633 [GRCh38]
Chr11:6644864 [GRCh37]
Chr11:11p15.4		 benign
NM_003737.4(DCHS1):c.7404G>A (p.Val2468_His2469=) single nucleotide variant not provided [RCV002600907] Chr11:6624272 [GRCh38]
Chr11:6645503 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.8143G>A (p.Val2715Met) single nucleotide variant not provided [RCV003028332] Chr11:6623533 [GRCh38]
Chr11:6644764 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.4665A>G (p.Pro1555_Glu1556=) single nucleotide variant not provided [RCV002646253] Chr11:6630129 [GRCh38]
Chr11:6651360 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.9770C>G (p.Ser3257Cys) single nucleotide variant not provided [RCV002671083] Chr11:6621906 [GRCh38]
Chr11:6643137 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.7176C>G (p.Gly2392_Ser2393=) single nucleotide variant not provided [RCV002597828] Chr11:6624839 [GRCh38]
Chr11:6646070 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.6379C>T (p.Arg2127Cys) single nucleotide variant not provided [RCV002628056] Chr11:6626366 [GRCh38]
Chr11:6647597 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.3433C>A (p.Gln1145Lys) single nucleotide variant not provided [RCV002811119] Chr11:6632079 [GRCh38]
Chr11:6653310 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.1108G>A (p.Asp370Asn) single nucleotide variant not provided [RCV003048236] Chr11:6640506 [GRCh38]
Chr11:6661737 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.3824C>G (p.Thr1275Ser) single nucleotide variant not provided [RCV002715740] Chr11:6631159 [GRCh38]
Chr11:6652390 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.8399C>T (p.Ser2800Leu) single nucleotide variant not provided [RCV002578217] Chr11:6623277 [GRCh38]
Chr11:6644508 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.2947C>A (p.Arg983_Leu984=) single nucleotide variant not provided [RCV002579972] Chr11:6632565 [GRCh38]
Chr11:6653796 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.9881C>T (p.Thr3294Met) single nucleotide variant not provided [RCV002806177] Chr11:6621795 [GRCh38]
Chr11:6643026 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.9294G>C (p.Leu3098_Leu3099=) single nucleotide variant not provided [RCV002627626] Chr11:6622382 [GRCh38]
Chr11:6643613 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.1383C>A (p.His461Gln) single nucleotide variant not provided [RCV003064479] Chr11:6640231 [GRCh38]
Chr11:6661462 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.3678A>G (p.Val1226_Pro1227=) single nucleotide variant not provided [RCV003087068] Chr11:6631405 [GRCh38]
Chr11:6652636 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.502C>T (p.Arg168Cys) single nucleotide variant not provided [RCV003061580] Chr11:6641112 [GRCh38]
Chr11:6662343 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.846C>T (p.Ala282_Asp283=) single nucleotide variant not provided [RCV002671176] Chr11:6640768 [GRCh38]
Chr11:6661999 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.9859G>T (p.Gly3287Cys) single nucleotide variant not provided [RCV002600435] Chr11:6621817 [GRCh38]
Chr11:6643048 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.4373T>G (p.Phe1458Cys) single nucleotide variant not provided [RCV003047324] Chr11:6630421 [GRCh38]
Chr11:6651652 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.1925G>A (p.Arg642Gln) single nucleotide variant not provided [RCV002599629] Chr11:6634179 [GRCh38]
Chr11:6655410 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.8312T>C (p.Val2771Ala) single nucleotide variant Inborn genetic diseases [RCV002602313]|not provided [RCV002579156] Chr11:6623364 [GRCh38]
Chr11:6644595 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.6929G>C (p.Trp2310Ser) single nucleotide variant not provided [RCV002579157] Chr11:6625415 [GRCh38]
Chr11:6646646 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.5035+16G>A single nucleotide variant not provided [RCV002601374] Chr11:6629656 [GRCh38]
Chr11:6650887 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.8322C>T (p.Asp2774_Tyr2775=) single nucleotide variant not provided [RCV003091445] Chr11:6623354 [GRCh38]
Chr11:6644585 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.2910C>G (p.Ala970_Arg971=) single nucleotide variant not provided [RCV003027986] Chr11:6632602 [GRCh38]
Chr11:6653833 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.1696G>A (p.Val566Met) single nucleotide variant not provided [RCV003063111] Chr11:6639918 [GRCh38]
Chr11:6661149 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.6664G>A (p.Val2222Ile) single nucleotide variant not provided [RCV002580289] Chr11:6625987 [GRCh38]
Chr11:6647218 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.7440G>C (p.Pro2480_Ser2481=) single nucleotide variant not provided [RCV002833225] Chr11:6624236 [GRCh38]
Chr11:6645467 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.8380T>C (p.Ser2794Pro) single nucleotide variant not provided [RCV002834782] Chr11:6623296 [GRCh38]
Chr11:6644527 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.314G>A (p.Arg105His) single nucleotide variant not provided [RCV002599477] Chr11:6641300 [GRCh38]
Chr11:6662531 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.6577-10C>T single nucleotide variant not provided [RCV002599485] Chr11:6626084 [GRCh38]
Chr11:6647315 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.5028C>G (p.Pro1676_Asp1677=) single nucleotide variant not provided [RCV002770878] Chr11:6629679 [GRCh38]
Chr11:6650910 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.76CTG[5] (p.Leu31_Leu33del) microsatellite not provided [RCV002578240] Chr11:6641515..6641523 [GRCh38]
Chr11:6662746..6662754 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.3415C>T (p.Arg1139Cys) single nucleotide variant not provided [RCV003062333] Chr11:6632097 [GRCh38]
Chr11:6653328 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.8159C>T (p.Pro2720Leu) single nucleotide variant not provided [RCV002597954] Chr11:6623517 [GRCh38]
Chr11:6644748 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.976C>T (p.Arg326Trp) single nucleotide variant not provided [RCV002598587] Chr11:6640638 [GRCh38]
Chr11:6661869 [GRCh37]
Chr11:11p15.4		 benign
NM_003737.4(DCHS1):c.1169T>C (p.Val390Ala) single nucleotide variant not provided [RCV002671181] Chr11:6640445 [GRCh38]
Chr11:6661676 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.1905C>T (p.Ser635_Gly636=) single nucleotide variant not provided [RCV002966056] Chr11:6634199 [GRCh38]
Chr11:6655430 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.3860A>G (p.Tyr1287Cys) single nucleotide variant not provided [RCV002746039] Chr11:6631123 [GRCh38]
Chr11:6652354 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.3410A>G (p.Asn1137Ser) single nucleotide variant Inborn genetic diseases [RCV002722235] Chr11:6632102 [GRCh38]
Chr11:6653333 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.1435C>T (p.Pro479Ser) single nucleotide variant not provided [RCV002635298] Chr11:6640179 [GRCh38]
Chr11:6661410 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.669A>G (p.Leu223_Gln224=) single nucleotide variant not provided [RCV002605174] Chr11:6640945 [GRCh38]
Chr11:6662176 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.9790C>T (p.Arg3264Cys) single nucleotide variant not provided [RCV002633218] Chr11:6621886 [GRCh38]
Chr11:6643117 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.3512G>A (p.Arg1171His) single nucleotide variant not provided [RCV002584867] Chr11:6631779 [GRCh38]
Chr11:6653010 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.5122G>A (p.Ala1708Thr) single nucleotide variant not provided [RCV002605607] Chr11:6629491 [GRCh38]
Chr11:6650722 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.2654A>C (p.Asp885Ala) single nucleotide variant not provided [RCV002582833] Chr11:6632858 [GRCh38]
Chr11:6654089 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.9473G>A (p.Arg3158His) single nucleotide variant not provided [RCV002582877] Chr11:6622203 [GRCh38]
Chr11:6643434 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.1878T>A (p.Ser626_Pro627=) single nucleotide variant not provided [RCV003052525] Chr11:6634226 [GRCh38]
Chr11:6655457 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.3565C>T (p.Pro1189Ser) single nucleotide variant not provided [RCV002605274] Chr11:6631726 [GRCh38]
Chr11:6652957 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.956C>T (p.Pro319Leu) single nucleotide variant Inborn genetic diseases [RCV002722957] Chr11:6640658 [GRCh38]
Chr11:6661889 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.5218G>A (p.Ala1740Thr) single nucleotide variant not provided [RCV002725812] Chr11:6628774 [GRCh38]
Chr11:6650005 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.2763C>T (p.Pro921_Asp922=) single nucleotide variant not provided [RCV002584956] Chr11:6632749 [GRCh38]
Chr11:6653980 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.8044C>G (p.Pro2682Ala) single nucleotide variant Inborn genetic diseases [RCV002652527]|not provided [RCV003111640] Chr11:6623632 [GRCh38]
Chr11:6644863 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.2730G>A (p.Gly910_Thr911=) single nucleotide variant not provided [RCV002654508] Chr11:6632782 [GRCh38]
Chr11:6654013 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.8776G>A (p.Ala2926Thr) single nucleotide variant not provided [RCV002603275] Chr11:6622900 [GRCh38]
Chr11:6644131 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.1888C>T (p.Arg630Cys) single nucleotide variant not provided [RCV002942244] Chr11:6634216 [GRCh38]
Chr11:6655447 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.897C>T (p.Ser299_Glu300=) single nucleotide variant not provided [RCV002604231] Chr11:6640717 [GRCh38]
Chr11:6661948 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.1467C>A (p.Gly489_Ser490=) single nucleotide variant not provided [RCV003072507] Chr11:6640147 [GRCh38]
Chr11:6661378 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.575G>A (p.Arg192Gln) single nucleotide variant not provided [RCV002586619] Chr11:6641039 [GRCh38]
Chr11:6662270 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.3206T>A (p.Ile1069Lys) single nucleotide variant not provided [RCV002607356] Chr11:6632306 [GRCh38]
Chr11:6653537 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.4448T>C (p.Val1483Ala) single nucleotide variant not provided [RCV003072551] Chr11:6630346 [GRCh38]
Chr11:6651577 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.9053C>A (p.Pro3018His) single nucleotide variant not provided [RCV002588773] Chr11:6622623 [GRCh38]
Chr11:6643854 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.6576+5G>A single nucleotide variant not provided [RCV002604331] Chr11:6626164 [GRCh38]
Chr11:6647395 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.7147-10_7147-9inv inversion not provided [RCV002634651] Chr11:6624877..6624878 [GRCh38]
Chr11:6646108..6646109 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.3675+17G>A single nucleotide variant not provided [RCV003050369] Chr11:6631599 [GRCh38]
Chr11:6652830 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.1872C>T (p.Ser624_Gly625=) single nucleotide variant not provided [RCV002584886] Chr11:6634232 [GRCh38]
Chr11:6655463 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.6307A>G (p.Thr2103Ala) single nucleotide variant not provided [RCV002582513] Chr11:6626609 [GRCh38]
Chr11:6647840 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.8845G>T (p.Val2949Leu) single nucleotide variant not provided [RCV002609616] Chr11:6622831 [GRCh38]
Chr11:6644062 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.9422C>T (p.Pro3141Leu) single nucleotide variant Inborn genetic diseases [RCV002608540]|not provided [RCV002608541] Chr11:6622254 [GRCh38]
Chr11:6643485 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.7730G>A (p.Arg2577His) single nucleotide variant not provided [RCV002608633] Chr11:6623946 [GRCh38]
Chr11:6645177 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.3567A>G (p.Pro1189_Pro1190=) single nucleotide variant not provided [RCV002589592] Chr11:6631724 [GRCh38]
Chr11:6652955 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.595C>T (p.Pro199Ser) single nucleotide variant not provided [RCV002587960] Chr11:6641019 [GRCh38]
Chr11:6662250 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.8638G>A (p.Gly2880Arg) single nucleotide variant not provided [RCV002588006] Chr11:6623038 [GRCh38]
Chr11:6644269 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.5838C>T (p.Val1946_Thr1947=) single nucleotide variant not provided [RCV002587164] Chr11:6627201 [GRCh38]
Chr11:6648432 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.2043C>A (p.Asn681Lys) single nucleotide variant not provided [RCV002582292] Chr11:6633964 [GRCh38]
Chr11:6655195 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.1797+4G>A single nucleotide variant not provided [RCV002588327] Chr11:6639813 [GRCh38]
Chr11:6661044 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.5781T>C (p.Phe1927_Ser1928=) single nucleotide variant not provided [RCV003073512] Chr11:6627258 [GRCh38]
Chr11:6648489 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.4439A>T (p.Glu1480Val) single nucleotide variant not provided [RCV003092990] Chr11:6630355 [GRCh38]
Chr11:6651586 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.3730C>A (p.Pro1244Thr) single nucleotide variant not provided [RCV002653415] Chr11:6631353 [GRCh38]
Chr11:6652584 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.5842A>G (p.Ile1948Val) single nucleotide variant not provided [RCV002608947] Chr11:6627197 [GRCh38]
Chr11:6648428 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.1656T>C (p.Asp552_Gly553=) single nucleotide variant not provided [RCV002590304] Chr11:6639958 [GRCh38]
Chr11:6661189 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.653G>A (p.Arg218His) single nucleotide variant not provided [RCV002583638] Chr11:6640961 [GRCh38]
Chr11:6662192 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.9278G>A (p.Arg3093Gln) single nucleotide variant Inborn genetic diseases [RCV002677154] Chr11:6622398 [GRCh38]
Chr11:6643629 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.6977G>A (p.Arg2326His) single nucleotide variant not provided [RCV003071444] Chr11:6625367 [GRCh38]
Chr11:6646598 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.9882G>A (p.Thr3294_Glu3295=) single nucleotide variant not provided [RCV002604554] Chr11:6621794 [GRCh38]
Chr11:6643025 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.1596G>A (p.Thr532_Ala533=) single nucleotide variant not provided [RCV002605753] Chr11:6640018 [GRCh38]
Chr11:6661249 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.1441C>T (p.Pro481Ser) single nucleotide variant not provided [RCV002613365] Chr11:6640173 [GRCh38]
Chr11:6661404 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.5953A>G (p.Thr1985Ala) single nucleotide variant not provided [RCV003051308] Chr11:6627086 [GRCh38]
Chr11:6648317 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.8119C>T (p.Pro2707Ser) single nucleotide variant not provided [RCV002585400] Chr11:6623557 [GRCh38]
Chr11:6644788 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.5678A>G (p.Tyr1893Cys) single nucleotide variant not provided [RCV002653595] Chr11:6627361 [GRCh38]
Chr11:6648592 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.4668G>A (p.Glu1556_Asp1557=) single nucleotide variant not provided [RCV003070084] Chr11:6630126 [GRCh38]
Chr11:6651357 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.2501G>A (p.Arg834Gln) single nucleotide variant not provided [RCV002587526] Chr11:6633011 [GRCh38]
Chr11:6654242 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.4252C>T (p.Arg1418Trp) single nucleotide variant not provided [RCV003072552] Chr11:6630542 [GRCh38]
Chr11:6651773 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.5261C>T (p.Ala1754Val) single nucleotide variant not provided [RCV002610217] Chr11:6628731 [GRCh38]
Chr11:6649962 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.7407C>T (p.His2469_Val2470=) single nucleotide variant not provided [RCV002606773] Chr11:6624269 [GRCh38]
Chr11:6645500 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.3551A>G (p.Gln1184Arg) single nucleotide variant not provided [RCV002721357] Chr11:6631740 [GRCh38]
Chr11:6652971 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.5531C>T (p.Thr1844Ile) single nucleotide variant Inborn genetic diseases [RCV002723066] Chr11:6627508 [GRCh38]
Chr11:6648739 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_003737.4(DCHS1):c.7062G>T (p.Gly2354_Pro2355=) single nucleotide variant not provided [RCV003049635] Chr11:6625282 [GRCh38]
Chr11:6646513 [GRCh37]
Chr11:11p15.4		 likely benign
NM_003737.4(DCHS1):c.2395G>A (p.Val799Met) single nucleotide variant not provided [RCV002634609] Chr11:6633472 [GRCh38]
Chr11:6654703 [GRCh37]
Chr11:11p15.4		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:404
Count of miRNA genes:304
Interacting mature miRNAs:334
Transcripts:ENST00000299441
Prediction methods: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.

Markers in Region
RH94204  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37116,642,651 - 6,642,817UniSTSGRCh37
Build 36116,599,227 - 6,599,393RGDNCBI36
Celera116,761,716 - 6,761,882RGD
Cytogenetic Map11p15.4UniSTS
HuRef116,301,582 - 6,301,748UniSTS
GeneMap99-GB4 RH Map1136.42UniSTS
SHGC-141500  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37116,655,486 - 6,655,704UniSTSGRCh37
Build 36116,612,062 - 6,612,280RGDNCBI36
Celera116,774,551 - 6,774,769RGD
Cytogenetic Map11p15.4UniSTS
HuRef116,314,421 - 6,314,639UniSTS
TNG Radiation Hybrid Map113013.0UniSTS
PCDH16_1801  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37116,642,563 - 6,643,429UniSTSGRCh37
Build 36116,599,139 - 6,600,005RGDNCBI36
Celera116,761,628 - 6,762,494RGD
HuRef116,301,494 - 6,302,360UniSTS


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 1673 1289 261 6 354 4 1663 859 473 89 725 821 5 1020 900 1
Low 696 1239 1352 510 697 350 2649 1298 3217 293 668 697 160 184 1864 1
Below cutoff 50 454 107 103 863 105 42 34 18 31 48 68 4 24 2

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000299441   ⟹   ENSP00000299441
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl116,621,330 - 6,655,809 (-)Ensembl
RefSeq Acc Id: ENST00000680123
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl116,633,342 - 6,633,890 (-)Ensembl
RefSeq Acc Id: NM_003737   ⟹   NP_003728
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38116,621,330 - 6,655,809 (-)NCBI
GRCh37116,642,556 - 6,685,320 (-)NCBI
Build 36116,599,134 - 6,633,656 (-)NCBI Archive
Celera116,761,623 - 6,801,774 (-)RGD
HuRef116,301,486 - 6,321,899 (-)NCBI
CHM1_1116,641,456 - 6,675,831 (-)NCBI
T2T-CHM13v2.0116,679,797 - 6,714,267 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_003728   ⟸   NM_003737
- Peptide Label: precursor
- UniProtKB: O15098 (UniProtKB/Swiss-Prot),   Q96JQ0 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000299441   ⟸   ENST00000299441
Protein Domains
Cadherin

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q96JQ0-F1-model_v2 AlphaFold Q96JQ0 1-1400 view protein structure
AF-Q96JQ0-F2-model_v2 AlphaFold Q96JQ0 201-1600 view protein structure
AF-Q96JQ0-F3-model_v2 AlphaFold Q96JQ0 401-1800 view protein structure
AF-Q96JQ0-F4-model_v2 AlphaFold Q96JQ0 601-2000 view protein structure
AF-Q96JQ0-F5-model_v2 AlphaFold Q96JQ0 801-2200 view protein structure
AF-Q96JQ0-F6-model_v2 AlphaFold Q96JQ0 1001-2400 view protein structure
AF-Q96JQ0-F7-model_v2 AlphaFold Q96JQ0 1201-2600 view protein structure
AF-Q96JQ0-F8-model_v2 AlphaFold Q96JQ0 1401-2800 view protein structure
AF-Q96JQ0-F9-model_v2 AlphaFold Q96JQ0 1601-3000 view protein structure
AF-Q96JQ0-F10-model_v2 AlphaFold Q96JQ0 1801-3200 view protein structure
AF-Q96JQ0-F11-model_v2 AlphaFold Q96JQ0 2001-3298 view protein structure

Promoters
RGD ID:7219533
Promoter ID:EPDNEW_H15512
Type:initiation region
Name:DCHS1_1
Description:dachsous cadherin-related 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38116,655,797 - 6,655,857EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:13681 AgrOrtholog
COSMIC DCHS1 COSMIC
Ensembl Genes ENSG00000166341 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000299441 ENTREZGENE
  ENSP00000299441.3 UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000299441 ENTREZGENE
  ENST00000299441.5 UniProtKB/Swiss-Prot
Gene3D-CATH Cadherins UniProtKB/Swiss-Prot
GTEx ENSG00000166341 GTEx
HGNC ID HGNC:13681 ENTREZGENE
Human Proteome Map DCHS1 Human Proteome Map
InterPro Cadherin UniProtKB/Swiss-Prot
  Cadherin-like_dom UniProtKB/Swiss-Prot
  Cadherin-like_sf UniProtKB/Swiss-Prot
  Cadherin_CS UniProtKB/Swiss-Prot
KEGG Report hsa:8642 UniProtKB/Swiss-Prot
NCBI Gene 8642 ENTREZGENE
OMIM 603057 OMIM
PANTHER CADHERIN DOMAIN-CONTAINING PROTEIN UniProtKB/Swiss-Prot
  PTHR24027 UniProtKB/Swiss-Prot
Pfam Cadherin UniProtKB/Swiss-Prot
PharmGKB PA33000 PharmGKB
PRINTS CADHERIN 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 O15098 ENTREZGENE
  PCD16_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary O15098 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2013-10-22 DCHS1  dachsous cadherin-related 1  DCHS1  dachsous 1 (Drosophila)  Symbol and/or name change 5135510 APPROVED