DYM (dymeclin) - Rat Genome Database

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Gene: DYM (dymeclin) Homo sapiens
Analyze
Symbol: DYM
Name: dymeclin
RGD ID: 1350887
HGNC Page HGNC:21317
Description: Enables enzyme binding activity. Involved in Golgi organization and bone development. Located in Golgi apparatus. Implicated in Dyggve-Melchior-Clausen disease; Smith-McCort dysplasia 1; and osteochondrodysplasia.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: DMC; dyggve-Melchior-Clausen syndrome protein; FLJ20071; FLJ90130; SMC
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381849,036,387 - 49,460,645 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1849,036,387 - 49,461,347 (-)Ensemblhg38GRCh38
GRCh371846,562,757 - 46,987,015 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361844,824,170 - 45,241,077 (-)NCBIBuild 36Build 36hg18NCBI36
Build 341844,824,169 - 45,241,077NCBI
Celera1843,423,709 - 43,842,456 (-)NCBICelera
Cytogenetic Map18q21.1NCBI
HuRef1843,422,918 - 43,840,755 (-)NCBIHuRef
CHM1_11846,565,142 - 46,982,392 (-)NCBICHM1_1
T2T-CHM13v2.01849,231,816 - 49,658,383 (-)NCBIT2T-CHM13v2.0
JBrowse:




Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
cytoplasm  (IDA,IEA)
Golgi apparatus  (IBA,IDA,IEA)
membrane  (IEA)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abdominal distention  (IAGP)
Abnormal circulating enzyme concentration or activity  (IAGP)
Abnormal femoral head morphology  (IAGP)
Abnormal hip bone morphology  (IAGP)
Abnormal pelvis bone morphology  (IAGP)
Abnormality of the ankle  (IAGP)
Abnormality of the vertebral column  (IAGP)
Abnormality of the vertebral endplates  (IAGP)
Absent speech  (IAGP)
Atlantoaxial instability  (IAGP)
Autosomal recessive inheritance  (IAGP)
Barrel-shaped chest  (IAGP)
Beaking of vertebral bodies  (IAGP)
Brachydactyly  (IAGP)
Broad carpal bones  (IAGP)
Broad femoral neck  (IAGP)
Broad foot  (IAGP)
Broad palm  (IAGP)
Broad ribs  (IAGP)
Camptodactyly  (IAGP)
Carpal bone hypoplasia  (IAGP)
Childhood onset  (IAGP)
Clinodactyly of the 5th finger  (IAGP)
Coarse facial features  (IAGP)
Cone-shaped epiphyses of the phalanges of the hand  (IAGP)
Corneal opacity  (IAGP)
Coxa vara  (IAGP)
Deformed sella turcica  (IAGP)
Delayed femoral head ossification  (IAGP)
Delayed speech and language development  (IAGP)
Difficulty standing  (IAGP)
Diminished ability to concentrate  (IAGP)
Disproportionate short-trunk short stature  (IAGP)
Dolichocephaly  (IAGP)
Enlargement of the costochondral junction  (IAGP)
Epiphyseal dysplasia  (IAGP)
Failure to thrive  (IAGP)
Femoral bowing  (IAGP)
Fine hair  (IAGP)
Flaring of lower rib cage  (IAGP)
Flat acetabular roof  (IAGP)
Flat glenoid fossa  (IAGP)
Frequent falls  (IAGP)
Gait disturbance  (IAGP)
Genu valgum  (IAGP)
Genu varum  (IAGP)
Glenoid fossa hypoplasia  (IAGP)
Hearing impairment  (IAGP)
Horizontal inferior border of scapula  (IAGP)
Hyperactivity  (IAGP)
Hyperreflexia  (IAGP)
Hypoplasia of the capital femoral epiphysis  (IAGP)
Hypoplasia of the odontoid process  (IAGP)
Hypoplastic acetabulae  (IAGP)
Hypoplastic facial bones  (IAGP)
Hypoplastic ilia  (IAGP)
Hypoplastic iliac wing  (IAGP)
Hypoplastic scapulae  (IAGP)
Iliac crest serration  (IAGP)
Inability to walk  (IAGP)
Intellectual disability  (IAGP)
Intellectual disability, mild  (IAGP)
Intellectual disability, severe  (IAGP)
Irregular epiphyses  (IAGP)
Kyphosis  (IAGP)
Limb muscle weakness  (IAGP)
Limitation of joint mobility  (IAGP)
Limited elbow extension  (IAGP)
Limited knee extension  (IAGP)
Lumbar hyperlordosis  (IAGP)
Mandibular prognathia  (IAGP)
Metaphyseal dysplasia  (IAGP)
Metaphyseal irregularity  (IAGP)
Metaphyseal widening  (IAGP)
Microcephaly  (IAGP)
Motor delay  (IAGP)
Multicentric femoral head ossification  (IAGP)
Multicentric ossification of proximal femoral epiphyses  (IAGP)
Multicentric ossification of proximal humeral epiphyses  (IAGP)
Narrow greater sciatic notch  (IAGP)
Pectus carinatum  (IAGP)
Pes planus  (IAGP)
Platyspondyly  (IAGP)
Poor speech  (IAGP)
Postnatal growth retardation  (IAGP)
Prominent calcaneus  (IAGP)
Prominent sternum  (IAGP)
Prostate cancer  (IAGP)
Protuberant abdomen  (IAGP)
Rectal prolapse  (IAGP)
Recurrent upper respiratory tract infections  (IAGP)
Respiratory insufficiency due to muscle weakness  (IAGP)
Rhizomelia  (IAGP)
Rhizomelic arm shortening  (IAGP)
Schizophrenia  (IAGP)
Scoliosis  (IAGP)
Severe global developmental delay  (IAGP)
Severe short stature  (IAGP)
Shield chest  (IAGP)
Short long bone  (IAGP)
Short metacarpal  (IAGP)
Short metatarsal  (IAGP)
Short neck  (IAGP)
Short phalanx of finger  (IAGP)
Short stature  (IAGP)
Short thorax  (IAGP)
Skeletal dysplasia  (IAGP)
Smooth philtrum  (IAGP)
Spastic tetraparesis  (IAGP)
Spondyloepimetaphyseal dysplasia  (IAGP)
Synophrys  (IAGP)
Talipes equinovarus  (IAGP)
Thick eyebrow  (IAGP)
Thick oral frenulum  (IAGP)
Thickened calvaria  (IAGP)
Thoracic kyphosis  (IAGP)
Tibial bowing  (IAGP)
Waddling gait  (IAGP)
Wide mouth  (IAGP)
Wide pubic symphysis  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Mental retardation and abnormal skeletal development (Dyggve-Melchior-Clausen dysplasia) due to mutations in a novel, evolutionarily conserved gene. Cohn DH, etal., Am J Hum Genet. 2003 Feb;72(2):419-28. Epub 2002 Dec 16.
2. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
3. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
4. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
5. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
6. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:8125298   PMID:11827452   PMID:12161821   PMID:12362026   PMID:12477932   PMID:12554689   PMID:14702039   PMID:15489334   PMID:17456239   PMID:18029348   PMID:18391952   PMID:18996921  
PMID:20379614   PMID:20546612   PMID:20555340   PMID:20865280   PMID:20881960   PMID:21280149   PMID:21873635   PMID:21998595   PMID:22021425   PMID:23064961   PMID:23563607   PMID:24300288  
PMID:25429064   PMID:25652408   PMID:26186194   PMID:26618866   PMID:27432908   PMID:28514442   PMID:28611215   PMID:30833792   PMID:31091453   PMID:32886330   PMID:33060197   PMID:33961781  
PMID:35007762   PMID:35831314   PMID:36215168   PMID:37827155  


Genomics

Comparative Map Data
DYM
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381849,036,387 - 49,460,645 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1849,036,387 - 49,461,347 (-)Ensemblhg38GRCh38
GRCh371846,562,757 - 46,987,015 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361844,824,170 - 45,241,077 (-)NCBIBuild 36Build 36hg18NCBI36
Build 341844,824,169 - 45,241,077NCBI
Celera1843,423,709 - 43,842,456 (-)NCBICelera
Cytogenetic Map18q21.1NCBI
HuRef1843,422,918 - 43,840,755 (-)NCBIHuRef
CHM1_11846,565,142 - 46,982,392 (-)NCBICHM1_1
T2T-CHM13v2.01849,231,816 - 49,658,383 (-)NCBIT2T-CHM13v2.0
Dym
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391875,151,772 - 75,420,037 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1875,151,852 - 75,420,035 (+)EnsemblGRCm39 EnsemblGRCm39
GRCm381875,018,699 - 75,286,966 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1875,018,781 - 75,286,964 (+)Ensemblmm10GRCm38
MGSCv371875,178,426 - 75,446,620 (+)NCBIMGSCv37MGSCv37mm9NCBIm37
MGSCv361875,144,137 - 75,412,331 (+)NCBIMGSCv36mm8
Celera1876,242,337 - 76,521,558 (+)NCBICelera
Cytogenetic Map18E3NCBI
cM Map1850.97NCBI
Dym
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81870,879,835 - 71,176,006 (+)NCBIGRCr8GRCr8GRCr8
GRCr8 Ensembl1870,880,255 - 71,176,004 (+)EnsemblGRCr8
mRatBN7.21868,605,131 - 68,900,905 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1868,605,185 - 68,900,903 (+)EnsemblmRatBN7.2
UTH_Rnor_SHR_Utx1870,718,041 - 71,013,638 (+)NCBIUTH_Rnor_SHR_UtxUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01871,386,410 - 71,683,811 (+)NCBIUTH_Rnor_SHRSP_BbbUtx_1.0UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01869,244,060 - 69,539,675 (+)NCBIUTH_Rnor_WKY_Bbb_1.0UTH_Rnor_WKY_Bbb_1.0
Rnor_6.01870,996,074 - 71,313,033 (+)NCBIRnor_6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1870,996,044 - 71,313,084 (+)Ensemblrn6Rnor6.0
Rnor_5.01870,178,416 - 70,449,688 (+)NCBIRnor_5.0Rnor_5.0rn5
RGSC_v3.41871,889,053 - 72,188,251 (+)NCBIRGSC_v3.4RGSC_v3.4rn4
Celera1866,780,263 - 67,073,707 (+)NCBICelera
RGSC_v3.11871,962,174 - 72,261,226 (+)NCBI
Cytogenetic Map18q12.2NCBI
Dym
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495540234,150,783 - 34,542,507 (-)Ensembl
ChiLan1.0NW_00495540234,150,783 - 34,541,944 (-)NCBIChiLan1.0ChiLan1.0
DYM
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21766,578,224 - 66,989,529 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11852,268,524 - 52,682,132 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01842,427,493 - 42,842,450 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11845,780,831 - 46,179,616 (-)NCBIPanPan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1845,783,379 - 46,162,835 (-)EnsemblpanPan2panpan1.1
DYM
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1779,286,558 - 79,629,451 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl779,286,614 - 79,629,043 (+)EnsemblcanFam3CanFam3.1
Dog10K_Boxer_Tasha778,691,499 - 79,034,045 (+)NCBIDog10K_Boxer_TashaDog10K_Boxer_Tasha
ROS_Cfam_1.0779,353,467 - 79,696,604 (+)NCBIROS_Cfam_1.0ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl779,353,400 - 79,697,033 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1779,068,269 - 79,410,974 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0779,098,408 - 79,441,226 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0779,383,285 - 79,726,463 (+)NCBIUU_Cfam_GSD_1.0UU_Cfam_GSD_1.0
Dym
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494438,237,505 - 38,575,582 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493649713,476,326 - 13,818,059 (+)EnsemblSpeTri2.0 Ensembl
SpeTri2.0NW_00493649713,476,376 - 13,816,515 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
DYM
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl198,638,339 - 99,024,642 (-)EnsemblsusScr11Sscrofa11.1
Sscrofa11.1198,642,506 - 99,024,664 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21108,216,906 - 108,352,210 (-)NCBISscrofa10.2Sscrofa10.2susScr3
DYM
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11831,513,665 - 31,902,064 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1831,513,735 - 31,901,811 (+)EnsemblChlSab1.1 EnsemblchlSab2Vervet-AGM
Vero_WHO_p1.0NW_0236660505,734,433 - 6,137,618 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Dym
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462477812,541,566 - 12,977,314 (-)EnsemblHetGla_female_1.0 EnsemblhetGla2HetGla_female_1.0 Ensembl
HetGla 1.0NW_00462477812,541,566 - 12,977,319 (-)NCBIHetGla 1.0HetGla 1.0hetGla2

Variants

.
Variants in DYM
385 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001353214.3(DYM):c.208C>T (p.Arg70Ter) single nucleotide variant Dyggve-Melchior-Clausen syndrome [RCV001591181]|not provided [RCV000519107] Chr18:49379744 [GRCh38]
Chr18:46906114 [GRCh37]
Chr18:18q21.1		 pathogenic|likely pathogenic
NM_001353214.3(DYM):c.48C>G (p.Tyr16Ter) single nucleotide variant Dyggve-Melchior-Clausen syndrome [RCV000003334]|not provided [RCV005089150] Chr18:49430347 [GRCh38]
Chr18:46956717 [GRCh37]
Chr18:18q21.1		 pathogenic
NM_001353214.3(DYM):c.763del (p.Thr255fs) deletion Dyggve-Melchior-Clausen syndrome [RCV000003335] Chr18:49331864 [GRCh38]
Chr18:46858234 [GRCh37]
Chr18:18q21.1		 pathogenic
NM_001353214.3(DYM):c.396T>A (p.Tyr132Ter) single nucleotide variant Dyggve-Melchior-Clausen syndrome [RCV000003336]|Dyggve-Melchior-Clausen syndrome [RCV002482820]|Inborn genetic diseases [RCV002512699]|not provided [RCV001851607] Chr18:49378592 [GRCh38]
Chr18:46904962 [GRCh37]
Chr18:18q21.1		 pathogenic|likely pathogenic
NM_001353214.3(DYM):c.1405A>T (p.Asn469Tyr) single nucleotide variant Dyggve-Melchior-Clausen syndrome [RCV000003337] Chr18:49257065 [GRCh38]
Chr18:46783435 [GRCh37]
Chr18:18q21.1		 pathogenic
DYM, IVS7AS, A-G, -2 single nucleotide variant Dyggve-Melchior-Clausen syndrome [RCV000003339]|Smith McCort dysplasia [RCV000003338]|Smith-McCort dysplasia 1 [RCV000003338] Chr18:18q12-q21.1 pathogenic
NM_001353214.3(DYM):c.259G>A (p.Glu87Lys) single nucleotide variant DYM-related disorder [RCV004758589]|Smith-McCort dysplasia 1 [RCV000003340]|not provided [RCV002512700] Chr18:49379693 [GRCh38]
Chr18:46906063 [GRCh37]
Chr18:18q21.1		 pathogenic|uncertain significance
NM_001353214.3(DYM):c.1252-1G>A single nucleotide variant Dyggve-Melchior-Clausen syndrome [RCV000003341]|not provided [RCV001851608] Chr18:49258494 [GRCh38]
Chr18:46784864 [GRCh37]
Chr18:18q21.1		 pathogenic
NM_001353214.3(DYM):c.2043del (p.Lys681fs) deletion Dyggve-Melchior-Clausen syndrome [RCV000003342]|not provided [RCV001851609] Chr18:49044187 [GRCh38]
Chr18:46570557 [GRCh37]
Chr18:18q21.1		 pathogenic|likely pathogenic
NM_001353214.3(DYM):c.422-2A>G single nucleotide variant Dyggve-Melchior-Clausen syndrome [RCV000003343] Chr18:49363235 [GRCh38]
Chr18:46889605 [GRCh37]
Chr18:18q21.1		 pathogenic
NM_001353214.3(DYM):c.1789T>C (p.Cys597Arg) single nucleotide variant Smith-McCort dysplasia 1 [RCV000003344] Chr18:49118866 [GRCh38]
Chr18:46645236 [GRCh37]
Chr18:18q21.1		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3 copy number gain See cases [RCV000051048] Chr18:148963..80252149 [GRCh38]
Chr18:148963..78010032 [GRCh37]
Chr18:138963..76111023 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18q11.1-23(chr18:20960320-80234429)x3 copy number gain See cases [RCV000052543] Chr18:20960320..80234429 [GRCh38]
Chr18:18540281..77992312 [GRCh37]
Chr18:16794279..76093303 [NCBI36]
Chr18:18q11.1-23		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:53345-80209986)x3 copy number gain See cases [RCV000052501] Chr18:53345..80209986 [GRCh38]
Chr18:53345..77967869 [GRCh37]
Chr18:43345..76068860 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18q11.1-23(chr18:20989762-80209986)x3 copy number gain See cases [RCV000052549] Chr18:20989762..80209986 [GRCh38]
Chr18:18569723..77967869 [GRCh37]
Chr18:16823721..76068860 [NCBI36]
Chr18:18q11.1-23		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:148763-80252290)x3 copy number gain See cases [RCV000052507] Chr18:148763..80252290 [GRCh38]
Chr18:148763..78010173 [GRCh37]
Chr18:138763..76111164 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18q12.1-22.1(chr18:29249202-65448117)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052563]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052563]|See cases [RCV000052563] Chr18:29249202..65448117 [GRCh38]
Chr18:26829167..63115353 [GRCh37]
Chr18:25083165..61266333 [NCBI36]
Chr18:18q12.1-22.1		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:148963-80244381)x3 copy number gain See cases [RCV000052514] Chr18:148963..80244381 [GRCh38]
Chr18:148963..78002264 [GRCh37]
Chr18:138963..76103255 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
NM_017653.3(DYM):c.1209C>T (p.Ile403=) single nucleotide variant Malignant melanoma [RCV000071835] Chr18:49272220 [GRCh38]
Chr18:46798590 [GRCh37]
Chr18:45052588 [NCBI36]
Chr18:18q21.1		 not provided
NM_001353214.3(DYM):c.2025+1G>A single nucleotide variant Dyggve-Melchior-Clausen syndrome [RCV003987403]|not provided [RCV000171271] Chr18:49097401 [GRCh38]
Chr18:46623771 [GRCh37]
Chr18:18q21.1		 pathogenic|likely pathogenic|no classifications from unflagged records
NM_001353214.3(DYM):c.946+1G>A single nucleotide variant not provided [RCV000171273] Chr18:49286433 [GRCh38]
Chr18:46812803 [GRCh37]
Chr18:18q21.1		 likely pathogenic
NM_001353214.3(DYM):c.422G>A (p.Ser141Asn) single nucleotide variant not provided [RCV000171274] Chr18:49363233 [GRCh38]
Chr18:46889603 [GRCh37]
Chr18:18q21.1		 likely pathogenic
NM_001353214.3(DYM):c.272C>G (p.Ser91Ter) single nucleotide variant not provided [RCV000171275] Chr18:49379680 [GRCh38]
Chr18:46906050 [GRCh37]
Chr18:18q21.1		 likely pathogenic
NM_001353214.3(DYM):c.1282C>T (p.Arg428Ter) single nucleotide variant not provided [RCV000171272] Chr18:49258463 [GRCh38]
Chr18:46784833 [GRCh37]
Chr18:18q21.1		 pathogenic|likely pathogenic
NM_001353214.3(DYM):c.122del (p.Phe41fs) deletion not provided [RCV000175880] Chr18:49430273 [GRCh38]
Chr18:46956643 [GRCh37]
Chr18:18q21.1		 pathogenic
NM_001353214.3(DYM):c.500T>A (p.Ile167Asn) single nucleotide variant DYM-related disorder [RCV004020160]|not provided [RCV000894265]|not specified [RCV000179952] Chr18:49333848 [GRCh38]
Chr18:46860218 [GRCh37]
Chr18:18q21.1		 benign
NM_001353214.3(DYM):c.621-2A>G single nucleotide variant Dyggve-Melchior-Clausen syndrome [RCV000003339]|Smith-McCort dysplasia 1 [RCV000003338]|not provided [RCV000180341] Chr18:49332008 [GRCh38]
Chr18:46858378 [GRCh37]
Chr18:18q21.1		 pathogenic
NM_001353214.3(DYM):c.1779C>G (p.Ile593Met) single nucleotide variant Prostate cancer [RCV000149245] Chr18:49118876 [GRCh38]
Chr18:46645246 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_001353214.3(DYM):c.1344A>G (p.Gln448=) single nucleotide variant Dyggve-Melchior-Clausen syndrome [RCV000404920]|Smith-McCort dysplasia [RCV000297024]|not provided [RCV000174382] Chr18:49258401 [GRCh38]
Chr18:46784771 [GRCh37]
Chr18:18q21.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_001353214.3(DYM):c.1827A>G (p.Val609=) single nucleotide variant not provided [RCV000174933] Chr18:49118828 [GRCh38]
Chr18:46645198 [GRCh37]
Chr18:18q21.1		 likely pathogenic|uncertain significance
GRCh38/hg38 18p11.32-q23(chr18:149089-80234391)x3 copy number gain See cases [RCV000134110] Chr18:149089..80234391 [GRCh38]
Chr18:149089..77992274 [GRCh37]
Chr18:139089..76093265 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18q12.2-22.1(chr18:38794728-65632804)x3 copy number gain See cases [RCV000136910] Chr18:38794728..65632804 [GRCh38]
Chr18:36374692..63300040 [GRCh37]
Chr18:34628690..61451020 [NCBI36]
Chr18:18q12.2-22.1		 pathogenic
GRCh38/hg38 18q12.1-23(chr18:32123105-80252149)x3 copy number gain See cases [RCV000136890] Chr18:32123105..80252149 [GRCh38]
Chr18:29703068..78010032 [GRCh37]
Chr18:27957066..76111023 [NCBI36]
Chr18:18q12.1-23		 pathogenic
GRCh38/hg38 18q21.1-23(chr18:49199411-80254946)x3 copy number gain See cases [RCV000137342] Chr18:49199411..80254946 [GRCh38]
Chr18:46725781..78012829 [GRCh37]
Chr18:44979779..76113817 [NCBI36]
Chr18:18q21.1-23		 pathogenic
GRCh38/hg38 18q12.3-23(chr18:42651392-80254946)x3 copy number gain See cases [RCV000138034] Chr18:42651392..80254946 [GRCh38]
Chr18:40231357..78012829 [GRCh37]
Chr18:38485355..76113817 [NCBI36]
Chr18:18q12.3-23		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:118760-80254946)x3 copy number gain See cases [RCV000138656] Chr18:118760..80254946 [GRCh38]
Chr18:118760..78012829 [GRCh37]
Chr18:108760..76113817 [NCBI36]
Chr18:18p11.32-q23		 pathogenic|conflicting data from submitters
GRCh38/hg38 18p11.32-q23(chr18:149089-80254936)x3 copy number gain See cases [RCV000139397] Chr18:149089..80254936 [GRCh38]
Chr18:149089..78012819 [GRCh37]
Chr18:139089..76113807 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:136227-80256240)x3 copy number gain See cases [RCV000142244] Chr18:136227..80256240 [GRCh38]
Chr18:136227..78014123 [GRCh37]
Chr18:126227..76115097 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18q12.3-23(chr18:40367455-80256240)x3 copy number gain See cases [RCV000142227] Chr18:40367455..80256240 [GRCh38]
Chr18:37947419..78014123 [GRCh37]
Chr18:36201417..76115097 [NCBI36]
Chr18:18q12.3-23		 pathogenic
GRCh38/hg38 18q11.1-22.3(chr18:20962119-74691446)x3 copy number gain See cases [RCV000143057] Chr18:20962119..74691446 [GRCh38]
Chr18:18542080..72403402 [GRCh37]
Chr18:16796078..70532390 [NCBI36]
Chr18:18q11.1-22.3		 pathogenic
GRCh38/hg38 18q12.3-21.1(chr18:41722823-49043887)x1 copy number loss See cases [RCV000142696] Chr18:41722823..49043887 [GRCh38]
Chr18:39302787..46570257 [GRCh37]
Chr18:37556785..44824255 [NCBI36]
Chr18:18q12.3-21.1		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:136226-80256240)x3 copy number gain See cases [RCV000143218] Chr18:136226..80256240 [GRCh38]
Chr18:136226..78014123 [GRCh37]
Chr18:126226..76115097 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3 copy number gain See cases [RCV000148072] Chr18:148963..80252149 [GRCh38]
Chr18:148963..78010032 [GRCh37]
Chr18:138963..76111023 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh37/hg19 18p11.32-q23(chr18:163323-78005236)x3 copy number gain See cases [RCV000240130] Chr18:163323..78005236 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
NM_001353214.3(DYM):c.1717C>T (p.Leu573=) single nucleotide variant Dyggve-Melchior-Clausen syndrome [RCV000293421]|Smith-McCort dysplasia [RCV000336606]|not provided [RCV000888403]|not specified [RCV000304877] Chr18:49163696 [GRCh38]
Chr18:46690066 [GRCh37]
Chr18:18q21.1		 benign|likely benign|uncertain significance
NM_001353214.3(DYM):c.288-10G>A single nucleotide variant DYM-related disorder [RCV004021308]|Dyggve-Melchior-Clausen syndrome [RCV000271206]|Smith-McCort dysplasia 1 [RCV000312331]|not provided [RCV000372965] Chr18:49378710 [GRCh38]
Chr18:46905080 [GRCh37]
Chr18:18q21.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001353214.3(DYM):c.1943A>G (p.Gln648Arg) single nucleotide variant DYM-related disorder [RCV004021154]|Dyggve-Melchior-Clausen syndrome [RCV000378341]|Smith-McCort dysplasia [RCV000321281]|not provided [RCV000353342] Chr18:49097484 [GRCh38]
Chr18:46623854 [GRCh37]
Chr18:18q21.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001353214.3(DYM):c.1669C>T (p.Gln557Ter) single nucleotide variant not provided [RCV000255789] Chr18:49163744 [GRCh38]
Chr18:46690114 [GRCh37]
Chr18:18q21.1		 pathogenic
GRCh37/hg19 18q11.1-23(chr18:18548019-77954165)x3 copy number gain See cases [RCV000240476] Chr18:18548019..77954165 [GRCh37]
Chr18:18q11.1-23		 pathogenic
NM_001353214.3(DYM):c.1977G>A (p.Leu659=) single nucleotide variant Dyggve-Melchior-Clausen syndrome [RCV000268552]|Smith-McCort dysplasia [RCV000360438]|not provided [RCV001399741] Chr18:49097450 [GRCh38]
Chr18:46623820 [GRCh37]
Chr18:18q21.1		 likely benign|uncertain significance
NM_001353214.3(DYM):c.342G>A (p.Leu114=) single nucleotide variant Connective tissue disorder [RCV002278501]|Dyggve-Melchior-Clausen syndrome [RCV000393797]|Smith-McCort dysplasia [RCV000305151]|not provided [RCV001511130] Chr18:49378646 [GRCh38]
Chr18:46905016 [GRCh37]
Chr18:18q21.1		 benign|likely benign
NM_001353214.3(DYM):c.1116G>A (p.Met372Ile) single nucleotide variant Dyggve-Melchior-Clausen syndrome [RCV000305353]|Smith-McCort dysplasia [RCV000357801] Chr18:49282006 [GRCh38]
Chr18:46808376 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_001353214.3(DYM):c.*22G>A single nucleotide variant Dyggve-Melchior-Clausen syndrome [RCV000345011]|Smith-McCort dysplasia [RCV000287578]|not provided [RCV004703741] Chr18:49044033 [GRCh38]
Chr18:46570403 [GRCh37]
Chr18:18q21.1		 likely benign
NM_001353214.3(DYM):c.1914G>C (p.Val638=) single nucleotide variant Connective tissue disorder [RCV002278499]|Dyggve-Melchior-Clausen syndrome [RCV000289660]|Smith-McCort dysplasia [RCV000381595]|not provided [RCV001512745] Chr18:49097513 [GRCh38]
Chr18:46623883 [GRCh37]
Chr18:18q21.1		 benign|likely benign
NM_001353214.3(DYM):c.1995C>T (p.Gly665=) single nucleotide variant Dyggve-Melchior-Clausen syndrome [RCV000259918]|Smith-McCort dysplasia [RCV000317373]|not provided [RCV001859922] Chr18:49097432 [GRCh38]
Chr18:46623802 [GRCh37]
Chr18:18q21.1		 likely benign|uncertain significance
NM_001353214.3(DYM):c.421A>G (p.Ser141Gly) single nucleotide variant Connective tissue disorder [RCV002278500]|Dyggve-Melchior-Clausen syndrome [RCV000280905]|Smith-McCort dysplasia [RCV000340550]|not provided [RCV000514424] Chr18:49378567 [GRCh38]
Chr18:46904937 [GRCh37]
Chr18:18q21.1		 benign|likely benign
NM_001353214.3(DYM):c.-154G>T single nucleotide variant Dyggve-Melchior-Clausen syndrome [RCV000379415]|Smith-McCort dysplasia [RCV000343061] Chr18:49460498 [GRCh38]
Chr18:46986868 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_001353214.3(DYM):c.-215G>A single nucleotide variant Dyggve-Melchior-Clausen syndrome [RCV000406741]|Smith-McCort dysplasia [RCV000309714] Chr18:49460559 [GRCh38]
Chr18:46986929 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_001353214.3(DYM):c.980C>A (p.Ala327Asp) single nucleotide variant Dyggve-Melchior-Clausen syndrome [RCV000362850]|Inborn genetic diseases [RCV002521165]|Smith-McCort dysplasia [RCV000272862]|not provided [RCV001859923] Chr18:49282142 [GRCh38]
Chr18:46808512 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_001353214.3(DYM):c.620+4T>G single nucleotide variant Connective tissue disorder [RCV002278306]|DYM-related disorder [RCV004021225]|Dyggve-Melchior-Clausen syndrome [RCV001125697]|Smith-McCort dysplasia 1 [RCV001125698]|not provided [RCV000377528] Chr18:49333724 [GRCh38]
Chr18:46860094 [GRCh37]
Chr18:18q21.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001353214.3(DYM):c.-243C>T single nucleotide variant Dyggve-Melchior-Clausen syndrome [RCV000296949]|Smith-McCort dysplasia [RCV000260387] Chr18:49460587 [GRCh38]
Chr18:46986957 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_001353214.3(DYM):c.193+9G>A single nucleotide variant Connective tissue disorder [RCV002278503]|Dyggve-Melchior-Clausen syndrome [RCV000367031]|Smith-McCort dysplasia 1 [RCV000276533]|not provided [RCV000957756] Chr18:49391584 [GRCh38]
Chr18:46917954 [GRCh37]
Chr18:18q21.1		 benign|likely benign
NM_001353214.3(DYM):c.*12T>C single nucleotide variant Dyggve-Melchior-Clausen syndrome [RCV000405691]|Smith-McCort dysplasia [RCV000315286] Chr18:49044043 [GRCh38]
Chr18:46570413 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_001353214.3(DYM):c.2164G>T (p.Asp722Tyr) single nucleotide variant Dyggve-Melchior-Clausen syndrome [RCV000367665]|Smith-McCort dysplasia [RCV000405928]|not provided [RCV002521164] Chr18:49044066 [GRCh38]
Chr18:46570436 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_001353214.3(DYM):c.-251G>T single nucleotide variant Dyggve-Melchior-Clausen syndrome [RCV000356471]|Smith-McCort dysplasia [RCV000261717] Chr18:49460595 [GRCh38]
Chr18:46986965 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_001353214.3(DYM):c.-294C>T single nucleotide variant Dyggve-Melchior-Clausen syndrome [RCV000321604]|Smith-McCort dysplasia [RCV000376302] Chr18:49460638 [GRCh38]
Chr18:46987008 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_001353214.3(DYM):c.-222G>A single nucleotide variant Dyggve-Melchior-Clausen syndrome [RCV000406341]|Smith-McCort dysplasia [RCV000350522] Chr18:49460566 [GRCh38]
Chr18:46986936 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_001353214.3(DYM):c.1924T>C (p.Phe642Leu) single nucleotide variant Dyggve-Melchior-Clausen syndrome [RCV000290928]|Inborn genetic diseases [RCV003243082]|Smith-McCort dysplasia [RCV000329327]|not provided [RCV001753786] Chr18:49097503 [GRCh38]
Chr18:46623873 [GRCh37]
Chr18:18q21.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001353214.3(DYM):c.144T>C (p.Ser48=) single nucleotide variant not provided [RCV000357775] Chr18:49391642 [GRCh38]
Chr18:46918012 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_001353214.3(DYM):c.920C>T (p.Ala307Val) single nucleotide variant DYM-related disorder [RCV004021732]|Dyggve-Melchior-Clausen syndrome [RCV000333578]|Smith-McCort dysplasia [RCV000292810] Chr18:49286460 [GRCh38]
Chr18:46812830 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_001353214.3(DYM):c.573A>T (p.Glu191Asp) single nucleotide variant Dyggve-Melchior-Clausen syndrome [RCV000375153]|Smith-McCort dysplasia [RCV000334825]|not provided [RCV000940130] Chr18:49333775 [GRCh38]
Chr18:46860145 [GRCh37]
Chr18:18q21.1		 likely benign|uncertain significance
NM_001353214.3(DYM):c.321G>A (p.Leu107=) single nucleotide variant Connective tissue disorder [RCV002278502]|Dyggve-Melchior-Clausen syndrome [RCV000341380]|Smith-McCort dysplasia [RCV000402458]|not provided [RCV000907132] Chr18:49378667 [GRCh38]
Chr18:46905037 [GRCh37]
Chr18:18q21.1		 benign|likely benign|uncertain significance
NM_001353214.3(DYM):c.946+7G>A single nucleotide variant DYM-related disorder [RCV004021075]|not provided [RCV000293735] Chr18:49286427 [GRCh38]
Chr18:46812797 [GRCh37]
Chr18:18q21.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001353214.3(DYM):c.1115T>C (p.Met372Thr) single nucleotide variant Dyggve-Melchior-Clausen syndrome [RCV000267104]|Smith-McCort dysplasia [RCV000326840] Chr18:49282007 [GRCh38]
Chr18:46808377 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_001353214.3(DYM):c.21A>T (p.Arg7Ser) single nucleotide variant Dyggve-Melchior-Clausen syndrome [RCV000263518]|Inborn genetic diseases [RCV004021734]|Smith-McCort dysplasia [RCV000318563] Chr18:49430374 [GRCh38]
Chr18:46956744 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_001353214.3(DYM):c.2053G>A (p.Val685Met) single nucleotide variant Dyggve-Melchior-Clausen syndrome [RCV000299929]|Smith-McCort dysplasia [RCV000357111] Chr18:49044177 [GRCh38]
Chr18:46570547 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_001353214.3(DYM):c.831T>C (p.Ser277=) single nucleotide variant Dyggve-Melchior-Clausen syndrome [RCV000388061]|Smith-McCort dysplasia [RCV000279749] Chr18:49286549 [GRCh38]
Chr18:46812919 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_001353214.3(DYM):c.42T>G (p.Asn14Lys) single nucleotide variant DYM-related disorder [RCV004021733]|Dyggve-Melchior-Clausen syndrome [RCV000317600]|Smith-McCort dysplasia [RCV000372208] Chr18:49430353 [GRCh38]
Chr18:46956723 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_001353214.3(DYM):c.1868G>A (p.Arg623Gln) single nucleotide variant Dyggve-Melchior-Clausen syndrome [RCV000391081]|Smith-McCort dysplasia [RCV000351589]|not provided [RCV000729040] Chr18:49118787 [GRCh38]
Chr18:46645157 [GRCh37]
Chr18:18q21.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_017653.4(DYM):c.-309G>C single nucleotide variant Dyggve-Melchior-Clausen syndrome [RCV000323440]|Smith-McCort dysplasia [RCV000268340]|not provided [RCV004709841] Chr18:49460653 [GRCh38]
Chr18:46987023 [GRCh37]
Chr18:18q21.1		 benign
NM_001353214.3(DYM):c.1251+12T>C single nucleotide variant Dyggve-Melchior-Clausen syndrome [RCV000354205]|Smith-McCort dysplasia 1 [RCV000402920]|not provided [RCV003765893] Chr18:49272166 [GRCh38]
Chr18:46798536 [GRCh37]
Chr18:18q21.1		 likely benign|uncertain significance
NM_001353214.3(DYM):c.2172C>T (p.Asp724=) single nucleotide variant not provided [RCV000886145]|not specified [RCV000597311] Chr18:49044058 [GRCh38]
Chr18:46570428 [GRCh37]
Chr18:18q21.1		 benign|likely benign|uncertain significance
NM_001353214.3(DYM):c.513A>G (p.Ile171Met) single nucleotide variant Inborn genetic diseases [RCV003268476] Chr18:49333835 [GRCh38]
Chr18:46860205 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_001353214.3(DYM):c.-238G>T single nucleotide variant Dyggve-Melchior-Clausen syndrome [RCV000315479]|Smith-McCort dysplasia [RCV000369169] Chr18:49460582 [GRCh38]
Chr18:46986952 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_001353214.3(DYM):c.*123G>A single nucleotide variant Dyggve-Melchior-Clausen syndrome [RCV000391857]|Smith-McCort dysplasia [RCV000345938] Chr18:49043932 [GRCh38]
Chr18:46570302 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_001353214.3(DYM):c.-94G>C single nucleotide variant Dyggve-Melchior-Clausen syndrome [RCV000377915]|Smith-McCort dysplasia [RCV000283427] Chr18:49460438 [GRCh38]
Chr18:46986808 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_001353214.3(DYM):c.297C>T (p.Phe99=) single nucleotide variant Dyggve-Melchior-Clausen syndrome [RCV000365773]|Smith-McCort dysplasia [RCV000306305] Chr18:49378691 [GRCh38]
Chr18:46905061 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_001353214.3(DYM):c.-169G>A single nucleotide variant Dyggve-Melchior-Clausen syndrome [RCV000289688]|Smith-McCort dysplasia [RCV000344687] Chr18:49460513 [GRCh38]
Chr18:46986883 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_001353214.3(DYM):c.961C>T (p.Pro321Ser) single nucleotide variant Dyggve-Melchior-Clausen syndrome [RCV000387047]|Smith-McCort dysplasia [RCV000327995] Chr18:49282161 [GRCh38]
Chr18:46808531 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_001353214.3(DYM):c.-54G>C single nucleotide variant not provided [RCV000597587] Chr18:49460398 [GRCh38]
Chr18:46986768 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_001353214.3(DYM):c.534A>G (p.Thr178=) single nucleotide variant not provided [RCV000731281] Chr18:49333814 [GRCh38]
Chr18:46860184 [GRCh37]
Chr18:18q21.1		 conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 18p11.32-q23(chr18:136226-78014123)x3 copy number gain See cases [RCV000446047] Chr18:136226..78014123 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
GRCh37/hg19 18p11.32-q23(chr18:163323-78005185)x3 copy number gain See cases [RCV000445851] Chr18:163323..78005185 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
GRCh37/hg19 18q21.1(chr18:46814533-46887714)x1 copy number loss See cases [RCV000448154] Chr18:46814533..46887714 [GRCh37]
Chr18:18q21.1		 uncertain significance
GRCh37/hg19 18q12.2-23(chr18:33417216-78014123)x3 copy number gain See cases [RCV000512081] Chr18:33417216..78014123 [GRCh37]
Chr18:18q12.2-23		 pathogenic
NM_001353214.3(DYM):c.-54+34G>C single nucleotide variant not provided [RCV001520173]|not specified [RCV000455505] Chr18:49460364 [GRCh38]
Chr18:46986734 [GRCh37]
Chr18:18q21.1		 benign
GRCh37/hg19 18q21.1-23(chr18:43776770-78014123)x3 copy number gain See cases [RCV000511394] Chr18:43776770..78014123 [GRCh37]
Chr18:18q21.1-23		 pathogenic
GRCh37/hg19 18q11.1-22.1(chr18:18521285-64495798)x3 copy number gain See cases [RCV000511734] Chr18:18521285..64495798 [GRCh37]
Chr18:18q11.1-22.1		 pathogenic
GRCh37/hg19 18p11.21-q23(chr18:14869204-78014123)x3 copy number gain See cases [RCV000512030] Chr18:14869204..78014123 [GRCh37]
Chr18:18p11.21-q23		 pathogenic
GRCh37/hg19 18q21.1-23(chr18:46177798-78014123)x1 copy number loss See cases [RCV000511759] Chr18:46177798..78014123 [GRCh37]
Chr18:18q21.1-23		 pathogenic
GRCh37/hg19 18q11.2-21.1(chr18:24835114-46917217)x3 copy number gain See cases [RCV000511124] Chr18:24835114..46917217 [GRCh37]
Chr18:18q11.2-21.1		 likely benign
GRCh37/hg19 18q12.3-23(chr18:42930373-78014123)x3 copy number gain See cases [RCV000511203] Chr18:42930373..78014123 [GRCh37]
Chr18:18q12.3-23		 pathogenic
GRCh37/hg19 18p11.32-q23(chr18:136227-78014123) copy number gain See cases [RCV000511189] Chr18:136227..78014123 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
NM_001353214.3(DYM):c.680A>C (p.Lys227Thr) single nucleotide variant Inborn genetic diseases [RCV003280194] Chr18:49331947 [GRCh38]
Chr18:46858317 [GRCh37]
Chr18:18q21.1		 uncertain significance
GRCh37/hg19 18q12.1-23(chr18:31879854-78014123)x3 copy number gain See cases [RCV000512425] Chr18:31879854..78014123 [GRCh37]
Chr18:18q12.1-23		 pathogenic
GRCh37/hg19 18q21.1(chr18:46674881-46750191)x1 copy number loss not provided [RCV000683974] Chr18:46674881..46750191 [GRCh37]
Chr18:18q21.1		 uncertain significance
GRCh37/hg19 18q12.2-21.31(chr18:35866313-55082983)x3 copy number gain not provided [RCV000684057] Chr18:35866313..55082983 [GRCh37]
Chr18:18q12.2-21.31		 pathogenic
GRCh37/hg19 18q21.1-23(chr18:46942427-78014123)x1 copy number loss not provided [RCV000684060] Chr18:46942427..78014123 [GRCh37]
Chr18:18q21.1-23		 pathogenic
GRCh37/hg19 18q21.1(chr18:46379232-46778031)x3 copy number gain not provided [RCV000683995] Chr18:46379232..46778031 [GRCh37]
Chr18:18q21.1		 uncertain significance
GRCh37/hg19 18q21.1(chr18:46583722-46803612)x1 copy number loss not provided [RCV000683981] Chr18:46583722..46803612 [GRCh37]
Chr18:18q21.1		 uncertain significance
GRCh37/hg19 18q11.1-21.2(chr18:18539806-49926444)x2 copy number gain not provided [RCV000739776] Chr18:18539806..49926444 [GRCh37]
Chr18:18q11.1-21.2		 pathogenic
NM_001353214.3(DYM):c.-53-211C>T single nucleotide variant not provided [RCV001611864] Chr18:49430658 [GRCh38]
Chr18:46957028 [GRCh37]
Chr18:18q21.1		 benign
GRCh37/hg19 18p11.32-q23(chr18:12842-78015180)x3 copy number gain not provided [RCV000752245] Chr18:12842..78015180 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
GRCh37/hg19 18p11.32-q23(chr18:13034-78015180)x3 copy number gain not provided [RCV000752246] Chr18:13034..78015180 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
NM_001353214.3(DYM):c.492C>T (p.Leu164=) single nucleotide variant not provided [RCV000927958] Chr18:49363163 [GRCh38]
Chr18:46889533 [GRCh37]
Chr18:18q21.1		 likely benign
NM_001353214.3(DYM):c.1230C>T (p.Phe410=) single nucleotide variant not provided [RCV000920694] Chr18:49272199 [GRCh38]
Chr18:46798569 [GRCh37]
Chr18:18q21.1		 likely benign
NM_001353214.3(DYM):c.975A>C (p.Pro325=) single nucleotide variant not provided [RCV000923959] Chr18:49282147 [GRCh38]
Chr18:46808517 [GRCh37]
Chr18:18q21.1		 likely benign
NM_001353214.3(DYM):c.504A>C (p.Thr168=) single nucleotide variant not provided [RCV000925921] Chr18:49333844 [GRCh38]
Chr18:46860214 [GRCh37]
Chr18:18q21.1		 likely benign
NM_001353214.3(DYM):c.654A>G (p.Leu218=) single nucleotide variant not provided [RCV000900232] Chr18:49331973 [GRCh38]
Chr18:46858343 [GRCh37]
Chr18:18q21.1		 likely benign
NM_017653.6(DYM):c.1746+9A>G single nucleotide variant not provided [RCV000982513] Chr18:49118735 [GRCh38]
Chr18:46645105 [GRCh37]
Chr18:18q21.1		 likely benign
NM_017653.6(DYM):c.1461-8T>G single nucleotide variant Dyggve-Melchior-Clausen syndrome [RCV001125613]|Smith-McCort dysplasia 1 [RCV001125614]|not provided [RCV000900446] Chr18:49163795 [GRCh38]
Chr18:46690165 [GRCh37]
Chr18:18q21.1		 likely benign|uncertain significance
NM_017653.6(DYM):c.140+8A>T single nucleotide variant DYM-related disorder [RCV004029934]|not provided [RCV000968752] Chr18:49430247 [GRCh38]
Chr18:46956617 [GRCh37]
Chr18:18q21.1		 benign|likely benign
NM_017653.5:c.1878del variation Dyggve-Melchior-Clausen syndrome [RCV000824989]   pathogenic
GRCh37/hg19 18q21.1-21.33(chr18:45621155-61416536)x3 copy number gain not provided [RCV000847118] Chr18:45621155..61416536 [GRCh37]
Chr18:18q21.1-21.33		 pathogenic
NM_001353214.3(DYM):c.2103_2107del (p.Val702fs) deletion not provided [RCV001090351] Chr18:49044123..49044127 [GRCh38]
Chr18:46570493..46570497 [GRCh37]
Chr18:18q21.1		 pathogenic
GRCh37/hg19 18q21.1(chr18:44619805-46854791)x3 copy number gain not provided [RCV000847739] Chr18:44619805..46854791 [GRCh37]
Chr18:18q21.1		 uncertain significance
GRCh37/hg19 18q21.1(chr18:46952641-46980738)x3 copy number gain not provided [RCV000848648] Chr18:46952641..46980738 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_001353214.3(DYM):c.1214C>T (p.Thr405Met) single nucleotide variant Inborn genetic diseases [RCV003290788] Chr18:49272215 [GRCh38]
Chr18:46798585 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_001353214.3(DYM):c.1366-174A>T single nucleotide variant not provided [RCV001598358] Chr18:49257278 [GRCh38]
Chr18:46783648 [GRCh37]
Chr18:18q21.1		 benign
NM_001353214.3(DYM):c.1626-304T>G single nucleotide variant not provided [RCV001713533] Chr18:49164091 [GRCh38]
Chr18:46690461 [GRCh37]
Chr18:18q21.1		 benign
NM_001353214.3(DYM):c.1728+178C>T single nucleotide variant not provided [RCV001597772] Chr18:49163507 [GRCh38]
Chr18:46689877 [GRCh37]
Chr18:18q21.1		 benign
NM_001353214.3(DYM):c.1626-303C>T single nucleotide variant not provided [RCV001652181] Chr18:49164090 [GRCh38]
Chr18:46690460 [GRCh37]
Chr18:18q21.1		 benign
NM_001353214.3(DYM):c.934A>G (p.Lys312Glu) single nucleotide variant not provided [RCV001563322] Chr18:49286446 [GRCh38]
Chr18:46812816 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_001353214.3(DYM):c.495-287T>G single nucleotide variant not provided [RCV001539572] Chr18:49334140 [GRCh38]
Chr18:46860510 [GRCh37]
Chr18:18q21.1		 benign
NM_001353214.3(DYM):c.316G>A (p.Ala106Thr) single nucleotide variant not provided [RCV001568599] Chr18:49378672 [GRCh38]
Chr18:46905042 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_001353214.3(DYM):c.1729-78G>C single nucleotide variant not provided [RCV001618947] Chr18:49119004 [GRCh38]
Chr18:46645374 [GRCh37]
Chr18:18q21.1		 benign
NM_001353214.3(DYM):c.-53-309C>T single nucleotide variant not provided [RCV001684940] Chr18:49430756 [GRCh38]
Chr18:46957126 [GRCh37]
Chr18:18q21.1		 benign
NM_001353214.3(DYM):c.422-30dup duplication not provided [RCV001654888] Chr18:49363254..49363255 [GRCh38]
Chr18:46889624..46889625 [GRCh37]
Chr18:18q21.1		 benign
NM_001353214.3(DYM):c.2026-30G>A single nucleotide variant not provided [RCV001608797] Chr18:49044234 [GRCh38]
Chr18:46570604 [GRCh37]
Chr18:18q21.1		 benign
NM_001353214.3(DYM):c.140+104G>A single nucleotide variant not provided [RCV001715517] Chr18:49430151 [GRCh38]
Chr18:46956521 [GRCh37]
Chr18:18q21.1		 benign
NM_001353214.3(DYM):c.1251+131T>A single nucleotide variant not provided [RCV001678222] Chr18:49272047 [GRCh38]
Chr18:46798417 [GRCh37]
Chr18:18q21.1		 benign
NM_001353214.3(DYM):c.1626-101del deletion not provided [RCV001618143] Chr18:49163888 [GRCh38]
Chr18:46690258 [GRCh37]
Chr18:18q21.1		 benign
NM_001353214.3(DYM):c.763+144_763+148del deletion not provided [RCV001638254] Chr18:49331716..49331720 [GRCh38]
Chr18:46858086..46858090 [GRCh37]
Chr18:18q21.1		 benign
NM_001353214.3(DYM):c.2026-130T>C single nucleotide variant not provided [RCV001599145] Chr18:49044334 [GRCh38]
Chr18:46570704 [GRCh37]
Chr18:18q21.1		 benign
GRCh37/hg19 18q11.2-21.2(chr18:20689919-49455212)x3 copy number gain not provided [RCV001006980] Chr18:20689919..49455212 [GRCh37]
Chr18:18q11.2-21.2		 pathogenic
NM_001353214.3(DYM):c.1251+155dup duplication not provided [RCV001645640] Chr18:49272006..49272007 [GRCh38]
Chr18:46798376..46798377 [GRCh37]
Chr18:18q21.1		 benign
NM_001353214.3(DYM):c.1252-328G>C single nucleotide variant not provided [RCV001679707] Chr18:49258821 [GRCh38]
Chr18:46785191 [GRCh37]
Chr18:18q21.1		 benign
NM_001353214.3(DYM):c.1126-224A>G single nucleotide variant not provided [RCV001614931] Chr18:49272527 [GRCh38]
Chr18:46798897 [GRCh37]
Chr18:18q21.1		 benign
NM_001353214.3(DYM):c.-53-308G>A single nucleotide variant not provided [RCV001680459] Chr18:49430755 [GRCh38]
Chr18:46957125 [GRCh37]
Chr18:18q21.1		 benign
NM_001353214.3(DYM):c.2026-88G>A single nucleotide variant not provided [RCV001667979] Chr18:49044292 [GRCh38]
Chr18:46570662 [GRCh37]
Chr18:18q21.1		 benign
NM_001353214.3(DYM):c.1126-72A>T single nucleotide variant not provided [RCV001670271] Chr18:49272375 [GRCh38]
Chr18:46798745 [GRCh37]
Chr18:18q21.1		 benign
NM_001353214.3(DYM):c.1365+117C>T single nucleotide variant not provided [RCV001671442] Chr18:49258263 [GRCh38]
Chr18:46784633 [GRCh37]
Chr18:18q21.1		 benign
NM_001353214.3(DYM):c.1365+154G>A single nucleotide variant not provided [RCV001650451] Chr18:49258226 [GRCh38]
Chr18:46784596 [GRCh37]
Chr18:18q21.1		 benign
NM_001353214.3(DYM):c.422-290G>A single nucleotide variant not provided [RCV001647915] Chr18:49363523 [GRCh38]
Chr18:46889893 [GRCh37]
Chr18:18q21.1		 benign
GRCh37/hg19 18q11.2-23(chr18:23626739-78014976)x3 copy number gain not provided [RCV001537911] Chr18:23626739..78014976 [GRCh37]
Chr18:18q11.2-23		 pathogenic
NM_001353214.3(DYM):c.621-167A>C single nucleotide variant not provided [RCV001713803] Chr18:49332173 [GRCh38]
Chr18:46858543 [GRCh37]
Chr18:18q21.1		 benign
NM_001353214.3(DYM):c.141-151del deletion not provided [RCV001684052] Chr18:49391796 [GRCh38]
Chr18:46918166 [GRCh37]
Chr18:18q21.1		 benign
NM_001353214.3(DYM):c.1252-328GT[17] microsatellite not provided [RCV001540920] Chr18:49258782..49258787 [GRCh38]
Chr18:46785152..46785157 [GRCh37]
Chr18:18q21.1		 benign
NM_001353214.3(DYM):c.95dup (p.Trp33fs) duplication Dyggve-Melchior-Clausen syndrome [RCV001004617] Chr18:49430299..49430300 [GRCh38]
Chr18:46956669..46956670 [GRCh37]
Chr18:18q21.1		 pathogenic
NM_001353214.3(DYM):c.416A>G (p.Asn139Ser) single nucleotide variant not provided [RCV001065945] Chr18:49378572 [GRCh38]
Chr18:46904942 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_001353214.3(DYM):c.947-2A>G single nucleotide variant DYM-related disorder [RCV004035398]|Dyggve-Melchior-Clausen syndrome [RCV001262584] Chr18:49282177 [GRCh38]
Chr18:46808547 [GRCh37]
Chr18:18q21.1		 pathogenic|likely pathogenic
NM_001353214.3(DYM):c.1728+2T>C single nucleotide variant Dyggve-Melchior-Clausen syndrome [RCV001352909] Chr18:49163683 [GRCh38]
Chr18:46690053 [GRCh37]
Chr18:18q21.1		 pathogenic|likely pathogenic
NM_001353214.3(DYM):c.1762C>T (p.Arg588Ter) single nucleotide variant Dyggve-Melchior-Clausen syndrome [RCV001280803]|not provided [RCV001871621] Chr18:49118893 [GRCh38]
Chr18:46645263 [GRCh37]
Chr18:18q21.1		 pathogenic|likely pathogenic
NM_001353214.3(DYM):c.1653_1654del (p.His551fs) microsatellite Dyggve-Melchior-Clausen syndrome [RCV001352908] Chr18:49163759..49163760 [GRCh38]
Chr18:46690129..46690130 [GRCh37]
Chr18:18q21.1		 pathogenic
NM_001353214.3(DYM):c.705_708dup (p.Pro237fs) duplication Dyggve-Melchior-Clausen syndrome [RCV001352910] Chr18:49331918..49331919 [GRCh38]
Chr18:46858288..46858289 [GRCh37]
Chr18:18q21.1		 pathogenic
NM_001353214.3(DYM):c.719C>A (p.Ser240Ter) single nucleotide variant Dyggve-Melchior-Clausen syndrome [RCV001328005] Chr18:49331908 [GRCh38]
Chr18:46858278 [GRCh37]
Chr18:18q21.1		 pathogenic
NM_001353214.3(DYM):c.1126-2A>G single nucleotide variant not provided [RCV001310387] Chr18:49272305 [GRCh38]
Chr18:46798675 [GRCh37]
Chr18:18q21.1		 likely pathogenic
NM_001353214.3(DYM):c.1094_1097del (p.Tyr365fs) microsatellite not provided [RCV001536891] Chr18:49282025..49282028 [GRCh38]
Chr18:46808395..46808398 [GRCh37]
Chr18:18q21.1		 likely pathogenic
NM_001353214.3(DYM):c.1650dup (p.His551fs) duplication Dyggve-Melchior-Clausen syndrome [RCV001352905] Chr18:49163762..49163763 [GRCh38]
Chr18:46690132..46690133 [GRCh37]
Chr18:18q21.1		 pathogenic
NM_001353214.3(DYM):c.963del (p.Ser322fs) deletion Dyggve-Melchior-Clausen syndrome [RCV001352911] Chr18:49282159 [GRCh38]
Chr18:46808529 [GRCh37]
Chr18:18q21.1		 pathogenic
NM_001353214.3(DYM):c.550T>C (p.Ser184Pro) single nucleotide variant Dyggve-Melchior-Clausen syndrome [RCV001352906] Chr18:49333798 [GRCh38]
Chr18:46860168 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_001353214.3(DYM):c.1049T>G (p.Leu350Arg) single nucleotide variant Dyggve-Melchior-Clausen syndrome [RCV001352907] Chr18:49282073 [GRCh38]
Chr18:46808443 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_001353214.3(DYM):c.1222del (p.Asp408fs) deletion Dyggve-Melchior-Clausen syndrome [RCV001358802] Chr18:49272207 [GRCh38]
Chr18:46798577 [GRCh37]
Chr18:18q21.1		 pathogenic
NM_001353214.3(DYM):c.973C>T (p.Pro325Ser) single nucleotide variant Inborn genetic diseases [RCV002539489]|not provided [RCV001301969] Chr18:49282149 [GRCh38]
Chr18:46808519 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_001353214.3(DYM):c.935A>G (p.Lys312Arg) single nucleotide variant not provided [RCV001344120] Chr18:49286445 [GRCh38]
Chr18:46812815 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_001353214.3(DYM):c.1460G>A (p.Ser487Asn) single nucleotide variant not provided [RCV001344293] Chr18:49257010 [GRCh38]
Chr18:46783380 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_001353214.3(DYM):c.1729-5A>G single nucleotide variant not provided [RCV001297671] Chr18:49118931 [GRCh38]
Chr18:46645301 [GRCh37]
Chr18:18q21.1		 likely benign|uncertain significance
NM_001353214.3(DYM):c.899C>T (p.Ala300Val) single nucleotide variant Dyggve-Melchior-Clausen syndrome [RCV001336382]|Inborn genetic diseases [RCV004619643] Chr18:49286481 [GRCh38]
Chr18:46812851 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_001353214.3(DYM):c.1252-449_1252-6del deletion not provided [RCV001464762] Chr18:49258499..49258942 [GRCh38]
Chr18:46784869..46785312 [GRCh37]
Chr18:18q21.1		 likely benign
NM_001353214.3(DYM):c.207T>C (p.Pro69=) single nucleotide variant DYM-related disorder [RCV004037301]|not provided [RCV001489686] Chr18:49379745 [GRCh38]
Chr18:46906115 [GRCh37]
Chr18:18q21.1		 likely benign
NM_001353214.3(DYM):c.561C>G (p.Leu187=) single nucleotide variant not provided [RCV001501216] Chr18:49333787 [GRCh38]
Chr18:46860157 [GRCh37]
Chr18:18q21.1		 likely benign
NM_001353214.3(DYM):c.838C>T (p.Leu280=) single nucleotide variant not provided [RCV001506467] Chr18:49286542 [GRCh38]
Chr18:46812912 [GRCh37]
Chr18:18q21.1		 likely benign
NM_001353214.3(DYM):c.673C>T (p.Gln225Ter) single nucleotide variant not provided [RCV001381491] Chr18:49331954 [GRCh38]
Chr18:46858324 [GRCh37]
Chr18:18q21.1		 pathogenic
NM_001353214.3(DYM):c.810G>A (p.Ala270=) single nucleotide variant not provided [RCV001405701] Chr18:49286570 [GRCh38]
Chr18:46812940 [GRCh37]
Chr18:18q21.1		 likely benign
NM_001353214.3(DYM):c.54_55insC (p.Lys19fs) insertion Dyggve-Melchior-Clausen syndrome [RCV001391227] Chr18:49430340..49430341 [GRCh38]
Chr18:46956710..46956711 [GRCh37]
Chr18:18q21.1		 likely pathogenic
NM_001353214.3(DYM):c.1251+172dup duplication not provided [RCV001686457] Chr18:49272004..49272005 [GRCh38]
Chr18:46798374..46798375 [GRCh37]
Chr18:18q21.1		 benign
NM_001353214.3(DYM):c.947-170G>A single nucleotide variant not provided [RCV001669085] Chr18:49282345 [GRCh38]
Chr18:46808715 [GRCh37]
Chr18:18q21.1		 benign
NM_001353214.3(DYM):c.421+168C>G single nucleotide variant not provided [RCV001679889] Chr18:49378399 [GRCh38]
Chr18:46904769 [GRCh37]
Chr18:18q21.1		 benign
NM_001353214.3(DYM):c.494+17C>T single nucleotide variant not provided [RCV001538369] Chr18:49363144 [GRCh38]
Chr18:46889514 [GRCh37]
Chr18:18q21.1		 benign
NM_001353214.3(DYM):c.763+278A>G single nucleotide variant not provided [RCV001691768] Chr18:49331586 [GRCh38]
Chr18:46857956 [GRCh37]
Chr18:18q21.1		 benign
NM_001353214.3(DYM):c.2026-298G>C single nucleotide variant not provided [RCV001687771] Chr18:49044502 [GRCh38]
Chr18:46570872 [GRCh37]
Chr18:18q21.1		 benign
NM_001353214.3(DYM):c.276A>G (p.Ala92=) single nucleotide variant not provided [RCV001518610] Chr18:49379676 [GRCh38]
Chr18:46906046 [GRCh37]
Chr18:18q21.1		 benign
NM_001353214.3(DYM):c.368del (p.Glu123fs) deletion not provided [RCV001390866] Chr18:49378620 [GRCh38]
Chr18:46904990 [GRCh37]
Chr18:18q21.1		 pathogenic
NM_001353214.3(DYM):c.915A>G (p.Arg305=) single nucleotide variant not provided [RCV001455602] Chr18:49286465 [GRCh38]
Chr18:46812835 [GRCh37]
Chr18:18q21.1		 likely benign
NM_001353214.3(DYM):c.346G>T (p.Val116Leu) single nucleotide variant not provided [RCV001730331] Chr18:49378642 [GRCh38]
Chr18:46905012 [GRCh37]
Chr18:18q21.1		 likely benign
NM_001353214.3(DYM):c.445dup (p.Glu149fs) duplication Dyggve-Melchior-Clausen syndrome [RCV002227914] Chr18:49363209..49363210 [GRCh38]
Chr18:46889579..46889580 [GRCh37]
Chr18:18q21.1		 pathogenic
NM_001353214.3(DYM):c.59T>A (p.Leu20Ter) single nucleotide variant Dyggve-Melchior-Clausen syndrome [RCV002250771]|not provided [RCV001783166] Chr18:49430336 [GRCh38]
Chr18:46956706 [GRCh37]
Chr18:18q21.1		 pathogenic
Single allele deletion Intellectual disability [RCV001787257] Chr18:1262336..53254747 [GRCh37]
Chr18:18p11.32-q21.2		 pathogenic
NM_001353214.3(DYM):c.1849G>A (p.Asp617Asn) single nucleotide variant not provided [RCV001769422] Chr18:49118806 [GRCh38]
Chr18:46645176 [GRCh37]
Chr18:18q21.1		 uncertain significance
GRCh37/hg19 18q21.1(chr18:46379233-46642420)x3 copy number gain not provided [RCV001832994] Chr18:46379233..46642420 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_001353214.3(DYM):c.1729-1G>A single nucleotide variant not provided [RCV001814442] Chr18:49118927 [GRCh38]
Chr18:46645297 [GRCh37]
Chr18:18q21.1		 likely pathogenic
NM_001353214.3(DYM):c.845A>G (p.Asn282Ser) single nucleotide variant Inborn genetic diseases [RCV004616939]|not provided [RCV001988426] Chr18:49286535 [GRCh38]
Chr18:46812905 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_001353214.3(DYM):c.1981A>G (p.Ile661Val) single nucleotide variant Inborn genetic diseases [RCV003264151]|not provided [RCV001929878] Chr18:49097446 [GRCh38]
Chr18:46623816 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_001353214.3(DYM):c.5G>A (p.Gly2Glu) single nucleotide variant not provided [RCV001945190] Chr18:49430390 [GRCh38]
Chr18:46956760 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_001353214.3(DYM):c.943C>G (p.Gln315Glu) single nucleotide variant Inborn genetic diseases [RCV002561343]|not provided [RCV001929192] Chr18:49286437 [GRCh38]
Chr18:46812807 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_001353214.3(DYM):c.1244A>T (p.His415Leu) single nucleotide variant not provided [RCV002044751] Chr18:49272185 [GRCh38]
Chr18:46798555 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_001353214.3(DYM):c.1433A>G (p.His478Arg) single nucleotide variant not provided [RCV001874763] Chr18:49257037 [GRCh38]
Chr18:46783407 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_001353214.3(DYM):c.1884T>G (p.Phe628Leu) single nucleotide variant not provided [RCV001915520] Chr18:49118771 [GRCh38]
Chr18:46645141 [GRCh37]
Chr18:18q21.1		 uncertain significance
GRCh37/hg19 18q21.1(chr18:46379232-46778034) copy number gain not specified [RCV002052633] Chr18:46379232..46778034 [GRCh37]
Chr18:18q21.1		 uncertain significance
GRCh37/hg19 18q21.1(chr18:46852441-46859524) copy number loss not specified [RCV002052635] Chr18:46852441..46859524 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_001353214.3(DYM):c.551C>T (p.Ser184Phe) single nucleotide variant not provided [RCV002003330] Chr18:49333797 [GRCh38]
Chr18:46860167 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_001353214.3(DYM):c.229C>G (p.Leu77Val) single nucleotide variant not provided [RCV001986089] Chr18:49379723 [GRCh38]
Chr18:46906093 [GRCh37]
Chr18:18q21.1		 uncertain significance
GRCh37/hg19 18p11.32-q23(chr18:136226-78014123) copy number gain not specified [RCV002052616] Chr18:136226..78014123 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
NM_001353214.3(DYM):c.233T>G (p.Ile78Ser) single nucleotide variant not provided [RCV001889818] Chr18:49379719 [GRCh38]
Chr18:46906089 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_001353214.3(DYM):c.535A>G (p.Met179Val) single nucleotide variant not provided [RCV001909322] Chr18:49333813 [GRCh38]
Chr18:46860183 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_001353214.3(DYM):c.1970G>A (p.Arg657Gln) single nucleotide variant not provided [RCV001926900] Chr18:49097457 [GRCh38]
Chr18:46623827 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_001353214.3(DYM):c.281G>A (p.Cys94Tyr) single nucleotide variant Inborn genetic diseases [RCV002560512]|not provided [RCV001927022] Chr18:49379671 [GRCh38]
Chr18:46906041 [GRCh37]
Chr18:18q21.1		 uncertain significance
GRCh37/hg19 18q21.1(chr18:46814533-46887714) copy number loss not specified [RCV002052634] Chr18:46814533..46887714 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_001353214.3(DYM):c.2003C>T (p.Ala668Val) single nucleotide variant Inborn genetic diseases [RCV004616969]|not provided [RCV002038464] Chr18:49097424 [GRCh38]
Chr18:46623794 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_001353214.3(DYM):c.500T>C (p.Ile167Thr) single nucleotide variant not provided [RCV001932300] Chr18:49333848 [GRCh38]
Chr18:46860218 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_001353214.3(DYM):c.778G>A (p.Val260Ile) single nucleotide variant not provided [RCV001886730] Chr18:49286602 [GRCh38]
Chr18:46812972 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_001353214.3(DYM):c.1157T>C (p.Val386Ala) single nucleotide variant Inborn genetic diseases [RCV002551177]|not provided [RCV002038539] Chr18:49272272 [GRCh38]
Chr18:46798642 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_001353214.3(DYM):c.781T>C (p.Phe261Leu) single nucleotide variant Inborn genetic diseases [RCV004616892]|not provided [RCV001944236] Chr18:49286599 [GRCh38]
Chr18:46812969 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_001353214.3(DYM):c.665T>G (p.Phe222Cys) single nucleotide variant Inborn genetic diseases [RCV005331127]|not provided [RCV002033736] Chr18:49331962 [GRCh38]
Chr18:46858332 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_001353214.3(DYM):c.1424G>A (p.Arg475His) single nucleotide variant Inborn genetic diseases [RCV002557647]|not provided [RCV001942941] Chr18:49257046 [GRCh38]
Chr18:46783416 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_001353214.3(DYM):c.163G>A (p.Glu55Lys) single nucleotide variant not provided [RCV002049173] Chr18:49391623 [GRCh38]
Chr18:46917993 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_001353214.3(DYM):c.809C>T (p.Ala270Val) single nucleotide variant not provided [RCV001955517] Chr18:49286571 [GRCh38]
Chr18:46812941 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_001353214.3(DYM):c.271T>C (p.Ser91Pro) single nucleotide variant Inborn genetic diseases [RCV004040521]|not provided [RCV001878958] Chr18:49379681 [GRCh38]
Chr18:46906051 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_001353214.3(DYM):c.957T>C (p.Pro319=) single nucleotide variant not provided [RCV001903369] Chr18:49282165 [GRCh38]
Chr18:46808535 [GRCh37]
Chr18:18q21.1		 likely benign
NM_001353214.3(DYM):c.1033T>A (p.Ser345Thr) single nucleotide variant not provided [RCV001957911] Chr18:49282089 [GRCh38]
Chr18:46808459 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_001353214.3(DYM):c.799G>T (p.Gly267Cys) single nucleotide variant not provided [RCV001939146] Chr18:49286581 [GRCh38]
Chr18:46812951 [GRCh37]
Chr18:18q21.1		 uncertain significance
NC_000018.9:g.(?_46570425)_(48604837_?)dup duplication not provided [RCV001923066] Chr18:46570425..48604837 [GRCh37]
Chr18:18q21.1-21.2		 uncertain significance
NM_001353214.3(DYM):c.1654A>G (p.Asn552Asp) single nucleotide variant not provided [RCV002017137] Chr18:49163759 [GRCh38]
Chr18:46690129 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_001353214.3(DYM):c.658T>C (p.Tyr220His) single nucleotide variant Inborn genetic diseases [RCV003348620]|not provided [RCV001925828] Chr18:49331969 [GRCh38]
Chr18:46858339 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_001353214.3(DYM):c.552C>A (p.Ser184=) single nucleotide variant not provided [RCV001956503] Chr18:49333796 [GRCh38]
Chr18:46860166 [GRCh37]
Chr18:18q21.1		 likely benign
NM_001353214.3(DYM):c.1090A>G (p.Thr364Ala) single nucleotide variant not provided [RCV001978687] Chr18:49282032 [GRCh38]
Chr18:46808402 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_001353214.3(DYM):c.1301C>T (p.Ser434Phe) single nucleotide variant not provided [RCV002011550] Chr18:49258444 [GRCh38]
Chr18:46784814 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_001353214.3(DYM):c.1196T>C (p.Ile399Thr) single nucleotide variant DYM-related disorder [RCV004039016]|Inborn genetic diseases [RCV002545814]|not provided [RCV001876438] Chr18:49272233 [GRCh38]
Chr18:46798603 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_001353214.3(DYM):c.539T>G (p.Val180Gly) single nucleotide variant not provided [RCV001957804] Chr18:49333809 [GRCh38]
Chr18:46860179 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_001353214.3(DYM):c.752C>T (p.Ser251Leu) single nucleotide variant not provided [RCV001937599] Chr18:49331875 [GRCh38]
Chr18:46858245 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_001353214.3(DYM):c.280T>G (p.Cys94Gly) single nucleotide variant not provided [RCV001955985] Chr18:49379672 [GRCh38]
Chr18:46906042 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_001353214.3(DYM):c.213A>G (p.Thr71=) single nucleotide variant not provided [RCV002106492] Chr18:49379739 [GRCh38]
Chr18:46906109 [GRCh37]
Chr18:18q21.1		 likely benign
NM_001353214.3(DYM):c.621-14dup duplication not provided [RCV002127515] Chr18:49332019..49332020 [GRCh38]
Chr18:46858389..46858390 [GRCh37]
Chr18:18q21.1		 benign
NM_001353214.3(DYM):c.1740A>G (p.Leu580=) single nucleotide variant not provided [RCV002126191] Chr18:49118915 [GRCh38]
Chr18:46645285 [GRCh37]
Chr18:18q21.1		 likely benign
NM_001353214.3(DYM):c.645G>A (p.Val215=) single nucleotide variant not provided [RCV002187368] Chr18:49331982 [GRCh38]
Chr18:46858352 [GRCh37]
Chr18:18q21.1		 likely benign
NM_001353214.3(DYM):c.2129A>C (p.Tyr710Ser) single nucleotide variant not provided [RCV002126708] Chr18:49044101 [GRCh38]
Chr18:46570471 [GRCh37]
Chr18:18q21.1		 likely benign
NM_001353214.3(DYM):c.93G>A (p.Pro31=) single nucleotide variant not provided [RCV002192173] Chr18:49430302 [GRCh38]
Chr18:46956672 [GRCh37]
Chr18:18q21.1		 likely benign
NM_001353214.3(DYM):c.1366-8C>G single nucleotide variant not provided [RCV002135259] Chr18:49257112 [GRCh38]
Chr18:46783482 [GRCh37]
Chr18:18q21.1		 likely benign
NM_001353214.3(DYM):c.1460+15T>C single nucleotide variant not provided [RCV002094545] Chr18:49256995 [GRCh38]
Chr18:46783365 [GRCh37]
Chr18:18q21.1		 likely benign
NM_001353214.3(DYM):c.1912-15C>T single nucleotide variant not provided [RCV002153467] Chr18:49097530 [GRCh38]
Chr18:46623900 [GRCh37]
Chr18:18q21.1		 likely benign
NM_001353214.3(DYM):c.1809C>T (p.His603=) single nucleotide variant not provided [RCV002173586] Chr18:49118846 [GRCh38]
Chr18:46645216 [GRCh37]
Chr18:18q21.1		 likely benign
NM_001353214.3(DYM):c.780C>T (p.Val260=) single nucleotide variant not provided [RCV002089591] Chr18:49286600 [GRCh38]
Chr18:46812970 [GRCh37]
Chr18:18q21.1		 likely benign
NM_001353214.3(DYM):c.140+12C>T single nucleotide variant not provided [RCV002129912] Chr18:49430243 [GRCh38]
Chr18:46956613 [GRCh37]
Chr18:18q21.1		 likely benign
NM_001353214.3(DYM):c.1659A>G (p.Lys553=) single nucleotide variant not provided [RCV002215676] Chr18:49163754 [GRCh38]
Chr18:46690124 [GRCh37]
Chr18:18q21.1		 likely benign
NM_001353214.3(DYM):c.620+12C>T single nucleotide variant not provided [RCV002180946] Chr18:49333716 [GRCh38]
Chr18:46860086 [GRCh37]
Chr18:18q21.1		 likely benign
NM_001353214.3(DYM):c.1383A>C (p.Thr461=) single nucleotide variant not provided [RCV002100049] Chr18:49257087 [GRCh38]
Chr18:46783457 [GRCh37]
Chr18:18q21.1		 likely benign
NM_001353214.3(DYM):c.421+8T>C single nucleotide variant not provided [RCV002160340] Chr18:49378559 [GRCh38]
Chr18:46904929 [GRCh37]
Chr18:18q21.1		 likely benign
NM_001353214.3(DYM):c.963C>T (p.Pro321=) single nucleotide variant not provided [RCV002217308] Chr18:49282159 [GRCh38]
Chr18:46808529 [GRCh37]
Chr18:18q21.1		 likely benign
NM_001353214.3(DYM):c.159G>A (p.Leu53=) single nucleotide variant not provided [RCV002123116] Chr18:49391627 [GRCh38]
Chr18:46917997 [GRCh37]
Chr18:18q21.1		 likely benign
NM_001353214.3(DYM):c.1792C>T (p.Leu598=) single nucleotide variant not provided [RCV002100083] Chr18:49118863 [GRCh38]
Chr18:46645233 [GRCh37]
Chr18:18q21.1		 likely benign
NM_001353214.3(DYM):c.348G>C (p.Val116=) single nucleotide variant DYM-related disorder [RCV004046519]|not provided [RCV002123402] Chr18:49378640 [GRCh38]
Chr18:46905010 [GRCh37]
Chr18:18q21.1		 likely benign
NM_001353214.3(DYM):c.1125+19A>T single nucleotide variant not provided [RCV002099052] Chr18:49281978 [GRCh38]
Chr18:46808348 [GRCh37]
Chr18:18q21.1		 likely benign
NM_001353214.3(DYM):c.123C>T (p.Phe41=) single nucleotide variant not provided [RCV002176739] Chr18:49430272 [GRCh38]
Chr18:46956642 [GRCh37]
Chr18:18q21.1		 likely benign
NC_000018.9:g.(?_46450976)_(46690177_?)dup duplication not provided [RCV003119780] Chr18:46450976..46690177 [GRCh37]
Chr18:18q21.1		 uncertain significance
GRCh37/hg19 18p11.32-q23(chr18:1-78077248) copy number gain Trisomy 18 [RCV002280660] Chr18:1..78077248 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
NM_001353214.3(DYM):c.1177_1178del (p.His393fs) deletion Dyggve-Melchior-Clausen syndrome [RCV002281596] Chr18:49272251..49272252 [GRCh38]
Chr18:46798621..46798622 [GRCh37]
Chr18:18q21.1		 pathogenic
NM_001353214.3(DYM):c.2170G>A (p.Asp724Asn) single nucleotide variant Connective tissue disorder [RCV002278715]|Inborn genetic diseases [RCV003101591] Chr18:49044060 [GRCh38]
Chr18:46570430 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_001353214.3(DYM):c.543T>G (p.Val181=) single nucleotide variant Connective tissue disorder [RCV002278716] Chr18:49333805 [GRCh38]
Chr18:46860175 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_001353214.3(DYM):c.457T>C (p.Cys153Arg) single nucleotide variant Inborn genetic diseases [RCV003262430] Chr18:49363198 [GRCh38]
Chr18:46889568 [GRCh37]
Chr18:18q21.1		 uncertain significance
GRCh37/hg19 18q21.1(chr18:46379233-46777416)x3 copy number gain not provided [RCV002473538] Chr18:46379233..46777416 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_001353214.3(DYM):c.764-3174_764-3107del deletion Schizophrenia [RCV002463527] Chr18:49289723..49289790 [GRCh38]
Chr18:46816093..46816160 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_001353214.3(DYM):c.1694C>T (p.Ser565Leu) single nucleotide variant not provided [RCV003102290]|not specified [RCV002308635] Chr18:49163719 [GRCh38]
Chr18:46690089 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_001353214.3(DYM):c.2111A>G (p.Asn704Ser) single nucleotide variant Inborn genetic diseases [RCV005333308]|not provided [RCV002681285] Chr18:49044119 [GRCh38]
Chr18:46570489 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_001353214.3(DYM):c.526A>G (p.Ile176Val) single nucleotide variant not provided [RCV002615861] Chr18:49333822 [GRCh38]
Chr18:46860192 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_001353214.3(DYM):c.764C>T (p.Thr255Ile) single nucleotide variant not provided [RCV002617510] Chr18:49286616 [GRCh38]
Chr18:46812986 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_001353214.3(DYM):c.495-18G>A single nucleotide variant not provided [RCV002862877] Chr18:49333871 [GRCh38]
Chr18:46860241 [GRCh37]
Chr18:18q21.1		 likely benign
NM_001353214.3(DYM):c.603T>C (p.Tyr201=) single nucleotide variant not provided [RCV002972609] Chr18:49333745 [GRCh38]
Chr18:46860115 [GRCh37]
Chr18:18q21.1		 likely benign
NM_001353214.3(DYM):c.613G>A (p.Gly205Ser) single nucleotide variant not provided [RCV002775616] Chr18:49333735 [GRCh38]
Chr18:46860105 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_001353214.3(DYM):c.60A>C (p.Leu20Phe) single nucleotide variant not provided [RCV003033670] Chr18:49430335 [GRCh38]
Chr18:46956705 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_001353214.3(DYM):c.554G>A (p.Cys185Tyr) single nucleotide variant Inborn genetic diseases [RCV002688103] Chr18:49333794 [GRCh38]
Chr18:46860164 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_001353214.3(DYM):c.1061C>T (p.Thr354Ile) single nucleotide variant not provided [RCV002735312] Chr18:49282061 [GRCh38]
Chr18:46808431 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_001353214.3(DYM):c.1412C>T (p.Ser471Leu) single nucleotide variant Inborn genetic diseases [RCV002639485]|not provided [RCV002658564] Chr18:49257058 [GRCh38]
Chr18:46783428 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_001353214.3(DYM):c.413G>T (p.Gly138Val) single nucleotide variant not provided [RCV002572028] Chr18:49378575 [GRCh38]
Chr18:46904945 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_001353214.3(DYM):c.469C>G (p.Gln157Glu) single nucleotide variant not provided [RCV003021208] Chr18:49363186 [GRCh38]
Chr18:46889556 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_001353214.3(DYM):c.1922T>C (p.Phe641Ser) single nucleotide variant not provided [RCV002590654] Chr18:49097505 [GRCh38]
Chr18:46623875 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_001353214.3(DYM):c.780C>G (p.Val260=) single nucleotide variant not provided [RCV002796847] Chr18:49286600 [GRCh38]
Chr18:46812970 [GRCh37]
Chr18:18q21.1		 likely benign
NM_001353214.3(DYM):c.2026-5T>C single nucleotide variant Inborn genetic diseases [RCV002797837]|not provided [RCV003777759] Chr18:49044209 [GRCh38]
Chr18:46570579 [GRCh37]
Chr18:18q21.1		 likely benign|uncertain significance
NM_001353214.3(DYM):c.2008C>T (p.Pro670Ser) single nucleotide variant Inborn genetic diseases [RCV002783659] Chr18:49097419 [GRCh38]
Chr18:46623789 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_001353214.3(DYM):c.947-16G>A single nucleotide variant not provided [RCV002795490] Chr18:49282191 [GRCh38]
Chr18:46808561 [GRCh37]
Chr18:18q21.1		 likely benign
NM_001353214.3(DYM):c.494+7T>C single nucleotide variant not provided [RCV002885962] Chr18:49363154 [GRCh38]
Chr18:46889524 [GRCh37]
Chr18:18q21.1		 likely benign
NM_001353214.3(DYM):c.1146T>A (p.Ile382=) single nucleotide variant not provided [RCV002909779] Chr18:49272283 [GRCh38]
Chr18:46798653 [GRCh37]
Chr18:18q21.1		 likely benign
NM_001353214.3(DYM):c.1678C>T (p.Gln560Ter) single nucleotide variant not provided [RCV002795177] Chr18:49163735 [GRCh38]
Chr18:46690105 [GRCh37]
Chr18:18q21.1		 pathogenic
NM_001353214.3(DYM):c.2088C>A (p.Pro696=) single nucleotide variant not provided [RCV003018211] Chr18:49044142 [GRCh38]
Chr18:46570512 [GRCh37]
Chr18:18q21.1		 likely benign
NM_001353214.3(DYM):c.657A>G (p.Leu219=) single nucleotide variant not provided [RCV002780182] Chr18:49331970 [GRCh38]
Chr18:46858340 [GRCh37]
Chr18:18q21.1		 likely benign
NM_001353214.3(DYM):c.760G>T (p.Ala254Ser) single nucleotide variant Inborn genetic diseases [RCV003367917]|not provided [RCV002948365] Chr18:49331867 [GRCh38]
Chr18:46858237 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_001353214.3(DYM):c.1729G>T (p.Ala577Ser) single nucleotide variant not provided [RCV002658536] Chr18:49118926 [GRCh38]
Chr18:46645296 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_001353214.3(DYM):c.106C>G (p.Leu36Val) single nucleotide variant not provided [RCV002933198] Chr18:49430289 [GRCh38]
Chr18:46956659 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_001353214.3(DYM):c.2115A>G (p.Ser705=) single nucleotide variant not provided [RCV003043594] Chr18:49044115 [GRCh38]
Chr18:46570485 [GRCh37]
Chr18:18q21.1		 likely benign
NM_001353214.3(DYM):c.626C>T (p.Pro209Leu) single nucleotide variant Inborn genetic diseases [RCV002873794] Chr18:49332001 [GRCh38]
Chr18:46858371 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_001353214.3(DYM):c.1085_1087del (p.Ile362del) deletion not provided [RCV003022789] Chr18:49282035..49282037 [GRCh38]
Chr18:46808405..46808407 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_001353214.3(DYM):c.1727A>T (p.Tyr576Phe) single nucleotide variant not provided [RCV003023493] Chr18:49163686 [GRCh38]
Chr18:46690056 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_001353214.3(DYM):c.1910T>G (p.Leu637Arg) single nucleotide variant not provided [RCV002642986] Chr18:49118745 [GRCh38]
Chr18:46645115 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_001353214.3(DYM):c.2169C>T (p.Ser723=) single nucleotide variant not provided [RCV002580126] Chr18:49044061 [GRCh38]
Chr18:46570431 [GRCh37]
Chr18:18q21.1		 likely benign
NM_001353214.3(DYM):c.2017A>G (p.Arg673Gly) single nucleotide variant Inborn genetic diseases [RCV002610169]|not provided [RCV002602601] Chr18:49097410 [GRCh38]
Chr18:46623780 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_001353214.3(DYM):c.217A>T (p.Asn73Tyr) single nucleotide variant Inborn genetic diseases [RCV002808503] Chr18:49379735 [GRCh38]
Chr18:46906105 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_001353214.3(DYM):c.1300T>C (p.Ser434Pro) single nucleotide variant not provided [RCV002580412] Chr18:49258445 [GRCh38]
Chr18:46784815 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_001353214.3(DYM):c.1126-15A>G single nucleotide variant not provided [RCV002580586] Chr18:49272318 [GRCh38]
Chr18:46798688 [GRCh37]
Chr18:18q21.1		 likely benign|uncertain significance
NM_001353214.3(DYM):c.946+8G>T single nucleotide variant not provided [RCV003031377] Chr18:49286426 [GRCh38]
Chr18:46812796 [GRCh37]
Chr18:18q21.1		 likely benign
NM_001353214.3(DYM):c.1205T>A (p.Leu402Ter) single nucleotide variant not provided [RCV002877416] Chr18:49272224 [GRCh38]
Chr18:46798594 [GRCh37]
Chr18:18q21.1		 pathogenic
NM_001353214.3(DYM):c.1106G>A (p.Arg369His) single nucleotide variant DYM-related disorder [RCV004066915]|not provided [RCV002714818] Chr18:49282016 [GRCh38]
Chr18:46808386 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_001353214.3(DYM):c.196G>A (p.Glu66Lys) single nucleotide variant not provided [RCV002649469] Chr18:49379756 [GRCh38]
Chr18:46906126 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_001353214.3(DYM):c.2091T>C (p.Tyr697=) single nucleotide variant not provided [RCV002895591] Chr18:49044139 [GRCh38]
Chr18:46570509 [GRCh37]
Chr18:18q21.1		 likely benign
NM_001353214.3(DYM):c.1952C>T (p.Ala651Val) single nucleotide variant Inborn genetic diseases [RCV002675298] Chr18:49097475 [GRCh38]
Chr18:46623845 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_001353214.3(DYM):c.374A>G (p.Glu125Gly) single nucleotide variant not provided [RCV002580229] Chr18:49378614 [GRCh38]
Chr18:46904984 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_001353214.3(DYM):c.712C>G (p.Gln238Glu) single nucleotide variant Inborn genetic diseases [RCV002718577] Chr18:49331915 [GRCh38]
Chr18:46858285 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_001353214.3(DYM):c.2108A>G (p.Tyr703Cys) single nucleotide variant Inborn genetic diseases [RCV004065202]|not provided [RCV002988765] Chr18:49044122 [GRCh38]
Chr18:46570492 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_001353214.3(DYM):c.2122G>A (p.Gly708Ser) single nucleotide variant Inborn genetic diseases [RCV002897208] Chr18:49044108 [GRCh38]
Chr18:46570478 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_001353214.3(DYM):c.719C>T (p.Ser240Leu) single nucleotide variant Inborn genetic diseases [RCV002897955] Chr18:49331908 [GRCh38]
Chr18:46858278 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_001353214.3(DYM):c.209G>A (p.Arg70Gln) single nucleotide variant not provided [RCV002634393] Chr18:49379743 [GRCh38]
Chr18:46906113 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_001353214.3(DYM):c.1415C>T (p.Ala472Val) single nucleotide variant not provided [RCV002943321] Chr18:49257055 [GRCh38]
Chr18:46783425 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_001353214.3(DYM):c.1877C>G (p.Pro626Arg) single nucleotide variant Inborn genetic diseases [RCV004617060]|not provided [RCV002634899] Chr18:49118778 [GRCh38]
Chr18:46645148 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_001353214.3(DYM):c.422-20C>A single nucleotide variant not provided [RCV002654370] Chr18:49363253 [GRCh38]
Chr18:46889623 [GRCh37]
Chr18:18q21.1		 likely benign
NM_001353214.3(DYM):c.702T>C (p.His234=) single nucleotide variant not provided [RCV002587226] Chr18:49331925 [GRCh38]
Chr18:46858295 [GRCh37]
Chr18:18q21.1		 likely benign
NM_001353214.3(DYM):c.907C>T (p.Pro303Ser) single nucleotide variant Inborn genetic diseases [RCV004978560]|not provided [RCV003072465] Chr18:49286473 [GRCh38]
Chr18:46812843 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_001353214.3(DYM):c.847C>A (p.Gln283Lys) single nucleotide variant Inborn genetic diseases [RCV004973482]|not provided [RCV002589865] Chr18:49286533 [GRCh38]
Chr18:46812903 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_001353214.3(DYM):c.1870A>G (p.Thr624Ala) single nucleotide variant Inborn genetic diseases [RCV003299560] Chr18:49118785 [GRCh38]
Chr18:46645155 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_001353214.3(DYM):c.610C>T (p.Arg204Ter) single nucleotide variant Dyggve-Melchior-Clausen syndrome [RCV003326703]|not provided [RCV003561251] Chr18:49333738 [GRCh38]
Chr18:46860108 [GRCh37]
Chr18:18q21.1		 pathogenic
NM_001353214.3(DYM):c.1517C>T (p.Pro506Leu) single nucleotide variant not provided [RCV003421640] Chr18:49209659 [GRCh38]
Chr18:46736029 [GRCh37]
Chr18:18q21.1		 likely benign
NM_001353214.3(DYM):c.1986T>C (p.Ile662=) single nucleotide variant not provided [RCV003543313] Chr18:49097441 [GRCh38]
Chr18:46623811 [GRCh37]
Chr18:18q21.1		 likely benign
NM_001353214.3(DYM):c.750A>C (p.Ala250=) single nucleotide variant not provided [RCV003571661] Chr18:49331877 [GRCh38]
Chr18:46858247 [GRCh37]
Chr18:18q21.1		 likely benign
NM_001353214.3(DYM):c.570A>G (p.Lys190=) single nucleotide variant not provided [RCV003831677] Chr18:49333778 [GRCh38]
Chr18:46860148 [GRCh37]
Chr18:18q21.1		 likely benign
NM_001353214.3(DYM):c.916C>T (p.Gln306Ter) single nucleotide variant Dyggve-Melchior-Clausen syndrome [RCV003494001] Chr18:49286464 [GRCh38]
Chr18:46812834 [GRCh37]
Chr18:18q21.1		 likely pathogenic
NM_001353214.3(DYM):c.421+9T>G single nucleotide variant not provided [RCV003831574] Chr18:49378558 [GRCh38]
Chr18:46904928 [GRCh37]
Chr18:18q21.1		 likely benign
NM_001353214.3(DYM):c.1125+8T>C single nucleotide variant not provided [RCV003577724] Chr18:49281989 [GRCh38]
Chr18:46808359 [GRCh37]
Chr18:18q21.1		 likely benign
NM_001353214.3(DYM):c.1125+1G>A single nucleotide variant Dyggve-Melchior-Clausen syndrome [RCV003493995] Chr18:49281996 [GRCh38]
Chr18:46808366 [GRCh37]
Chr18:18q21.1		 likely pathogenic
NM_001353214.3(DYM):c.1626-14_1626-4del deletion Dyggve-Melchior-Clausen syndrome [RCV003493996] Chr18:49163791..49163801 [GRCh38]
Chr18:46690161..46690171 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_001353214.3(DYM):c.1460+8T>C single nucleotide variant not provided [RCV003829463] Chr18:49257002 [GRCh38]
Chr18:46783372 [GRCh37]
Chr18:18q21.1		 likely benign
NM_001353214.3(DYM):c.140+10T>C single nucleotide variant not provided [RCV003876957] Chr18:49430245 [GRCh38]
Chr18:46956615 [GRCh37]
Chr18:18q21.1		 likely benign
NM_001353214.3(DYM):c.442T>C (p.Leu148=) single nucleotide variant not provided [RCV003826071] Chr18:49363213 [GRCh38]
Chr18:46889583 [GRCh37]
Chr18:18q21.1		 likely benign
NM_001353214.3(DYM):c.1831G>A (p.Ala611Thr) single nucleotide variant not provided [RCV003825116] Chr18:49118824 [GRCh38]
Chr18:46645194 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_001353214.3(DYM):c.699C>T (p.Ala233=) single nucleotide variant not provided [RCV003834744] Chr18:49331928 [GRCh38]
Chr18:46858298 [GRCh37]
Chr18:18q21.1		 likely benign
NM_001353214.3(DYM):c.1998C>T (p.Val666=) single nucleotide variant not provided [RCV003717364] Chr18:49097429 [GRCh38]
Chr18:46623799 [GRCh37]
Chr18:18q21.1		 likely benign
NM_001353214.3(DYM):c.1626-1G>T single nucleotide variant not provided [RCV003558090] Chr18:49163788 [GRCh38]
Chr18:46690158 [GRCh37]
Chr18:18q21.1		 likely pathogenic
NM_001353214.3(DYM):c.1692T>G (p.Gly564=) single nucleotide variant not provided [RCV003816915] Chr18:49163721 [GRCh38]
Chr18:46690091 [GRCh37]
Chr18:18q21.1		 likely benign
NM_001353214.3(DYM):c.617C>T (p.Pro206Leu) single nucleotide variant not provided [RCV003854384] Chr18:49333731 [GRCh38]
Chr18:46860101 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_001353214.3(DYM):c.1323G>A (p.Leu441=) single nucleotide variant not provided [RCV003671096] Chr18:49258422 [GRCh38]
Chr18:46784792 [GRCh37]
Chr18:18q21.1		 likely benign
NM_001353214.3(DYM):c.1366-16C>T single nucleotide variant not provided [RCV003840024] Chr18:49257120 [GRCh38]
Chr18:46783490 [GRCh37]
Chr18:18q21.1		 likely benign
NM_001353214.3(DYM):c.1365+18T>C single nucleotide variant not provided [RCV003838681] Chr18:49258362 [GRCh38]
Chr18:46784732 [GRCh37]
Chr18:18q21.1		 likely benign
NM_001353214.3(DYM):c.252A>G (p.Arg84=) single nucleotide variant not provided [RCV003672074] Chr18:49379700 [GRCh38]
Chr18:46906070 [GRCh37]
Chr18:18q21.1		 likely benign
NM_001353214.3(DYM):c.1182G>C (p.Val394=) single nucleotide variant not provided [RCV003862788] Chr18:49272247 [GRCh38]
Chr18:46798617 [GRCh37]
Chr18:18q21.1		 likely benign
NM_001353214.3(DYM):c.379C>A (p.Gln127Lys) single nucleotide variant not provided [RCV003705430] Chr18:49378609 [GRCh38]
Chr18:46904979 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_001353214.3(DYM):c.1969C>T (p.Arg657Trp) single nucleotide variant not provided [RCV003847748] Chr18:49097458 [GRCh38]
Chr18:46623828 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_001353214.3(DYM):c.422-18T>C single nucleotide variant not provided [RCV003677016] Chr18:49363251 [GRCh38]
Chr18:46889621 [GRCh37]
Chr18:18q21.1		 likely benign
NM_001353214.3(DYM):c.1911+2T>C single nucleotide variant not provided [RCV003732193] Chr18:49118742 [GRCh38]
Chr18:46645112 [GRCh37]
Chr18:18q21.1		 likely pathogenic
NM_001353214.3(DYM):c.1912-10T>C single nucleotide variant not provided [RCV003676857] Chr18:49097525 [GRCh38]
Chr18:46623895 [GRCh37]
Chr18:18q21.1		 likely benign
NM_001353214.3(DYM):c.84G>A (p.Glu28=) single nucleotide variant not provided [RCV003731869] Chr18:49430311 [GRCh38]
Chr18:46956681 [GRCh37]
Chr18:18q21.1		 likely benign
NM_001353214.3(DYM):c.495-6T>C single nucleotide variant not provided [RCV003541883] Chr18:49333859 [GRCh38]
Chr18:46860229 [GRCh37]
Chr18:18q21.1		 likely benign
NM_001353214.3(DYM):c.24C>T (p.Ile8=) single nucleotide variant not provided [RCV003733399] Chr18:49430371 [GRCh38]
Chr18:46956741 [GRCh37]
Chr18:18q21.1		 likely benign
NM_001353214.3(DYM):c.1092A>T (p.Thr364=) single nucleotide variant not provided [RCV003867531] Chr18:49282030 [GRCh38]
Chr18:46808400 [GRCh37]
Chr18:18q21.1		 likely benign
NM_001353214.3(DYM):c.1413G>A (p.Ser471=) single nucleotide variant DYM-related disorder [RCV004369624]|not provided [RCV003871300] Chr18:49257057 [GRCh38]
Chr18:46783427 [GRCh37]
Chr18:18q21.1		 likely benign
NM_001353214.3(DYM):c.900G>A (p.Ala300=) single nucleotide variant not provided [RCV003731897] Chr18:49286480 [GRCh38]
Chr18:46812850 [GRCh37]
Chr18:18q21.1		 likely benign
NM_001353214.3(DYM):c.1776G>A (p.Glu592=) single nucleotide variant not provided [RCV003553104] Chr18:49118879 [GRCh38]
Chr18:46645249 [GRCh37]
Chr18:18q21.1		 likely benign
NM_001353214.3(DYM):c.858G>C (p.Leu286=) single nucleotide variant not provided [RCV003732698] Chr18:49286522 [GRCh38]
Chr18:46812892 [GRCh37]
Chr18:18q21.1		 likely benign
NM_001353214.3(DYM):c.1371G>A (p.Lys457=) single nucleotide variant not provided [RCV003542066] Chr18:49257099 [GRCh38]
Chr18:46783469 [GRCh37]
Chr18:18q21.1		 likely benign
NM_001353214.3(DYM):c.693A>C (p.Pro231=) single nucleotide variant not provided [RCV003684792] Chr18:49331934 [GRCh38]
Chr18:46858304 [GRCh37]
Chr18:18q21.1		 likely benign
NM_001353214.3(DYM):c.855C>T (p.Leu285=) single nucleotide variant not provided [RCV003677083] Chr18:49286525 [GRCh38]
Chr18:46812895 [GRCh37]
Chr18:18q21.1		 likely benign
GRCh37/hg19 18q12.2-21.1(chr18:33793283-46823898)x1 copy number loss not specified [RCV003987274] Chr18:33793283..46823898 [GRCh37]
Chr18:18q12.2-21.1		 pathogenic
NM_001353214.3(DYM):c.157T>C (p.Leu53=) single nucleotide variant not provided [RCV003844372] Chr18:49391629 [GRCh38]
Chr18:46917999 [GRCh37]
Chr18:18q21.1		 likely benign
NM_001353214.3(DYM):c.193+19T>A single nucleotide variant not provided [RCV003711392] Chr18:49391574 [GRCh38]
Chr18:46917944 [GRCh37]
Chr18:18q21.1		 likely benign
NM_001353214.3(DYM):c.27C>T (p.Gly9=) single nucleotide variant not provided [RCV003727375] Chr18:49430368 [GRCh38]
Chr18:46956738 [GRCh37]
Chr18:18q21.1		 likely benign
NM_001353214.3(DYM):c.1867C>T (p.Arg623Ter) single nucleotide variant Dyggve-Melchior-Clausen syndrome [RCV003990026] Chr18:49118788 [GRCh38]
Chr18:46645158 [GRCh37]
Chr18:18q21.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_001353214.3(DYM):c.2021T>C (p.Leu674Pro) single nucleotide variant DYM-related disorder [RCV004369773] Chr18:49097406 [GRCh38]
Chr18:46623776 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_001353214.3(DYM):c.2020C>T (p.Leu674=) single nucleotide variant DYM-related disorder [RCV004369877] Chr18:49097407 [GRCh38]
Chr18:46623777 [GRCh37]
Chr18:18q21.1		 likely benign
NM_001353214.3(DYM):c.1728+7_1728+8insTACT insertion DYM-related disorder [RCV004369831] Chr18:49163677..49163678 [GRCh38]
Chr18:46690047..46690048 [GRCh37]
Chr18:18q21.1		 likely benign
NM_001353214.3(DYM):c.751T>C (p.Ser251Pro) single nucleotide variant Inborn genetic diseases [RCV004379819] Chr18:49331876 [GRCh38]
Chr18:46858246 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_001353214.3(DYM):c.1285G>A (p.Val429Ile) single nucleotide variant Inborn genetic diseases [RCV004379815] Chr18:49258460 [GRCh38]
Chr18:46784830 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_001353214.3(DYM):c.214G>A (p.Gly72Arg) single nucleotide variant Inborn genetic diseases [RCV004379817] Chr18:49379738 [GRCh38]
Chr18:46906108 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_001353214.3(DYM):c.1626-2A>G single nucleotide variant Dyggve-Melchior-Clausen syndrome [RCV004577077] Chr18:49163789 [GRCh38]
Chr18:46690159 [GRCh37]
Chr18:18q21.1		 likely pathogenic
NM_001353214.3(DYM):c.2090A>G (p.Tyr697Cys) single nucleotide variant Inborn genetic diseases [RCV004379816] Chr18:49044140 [GRCh38]
Chr18:46570510 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_001353214.3(DYM):c.923T>C (p.Ile308Thr) single nucleotide variant Inborn genetic diseases [RCV004379820] Chr18:49286457 [GRCh38]
Chr18:46812827 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_001353214.3(DYM):c.1126G>C (p.Val376Leu) single nucleotide variant Inborn genetic diseases [RCV004617253] Chr18:49272303 [GRCh38]
Chr18:46798673 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_001353214.3(DYM):c.1891A>G (p.Ile631Val) single nucleotide variant Inborn genetic diseases [RCV004617255] Chr18:49118764 [GRCh38]
Chr18:46645134 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_001353214.3(DYM):c.421+1G>T single nucleotide variant Dyggve-Melchior-Clausen syndrome [RCV004764352] Chr18:49378566 [GRCh38]
Chr18:46904936 [GRCh37]
Chr18:18q21.1		 likely pathogenic|uncertain significance
NM_001353214.3(DYM):c.1609_1619del (p.Arg537fs) deletion DYM-related disorder [RCV004758968] Chr18:49209557..49209567 [GRCh38]
Chr18:46735927..46735937 [GRCh37]
Chr18:18q21.1		 likely pathogenic
GRCh37/hg19 18q11.2-23(chr18:19309942-78014123)x3 copy number gain not provided [RCV004819319] Chr18:19309942..78014123 [GRCh37]
Chr18:18q11.2-23		 pathogenic
GRCh37/hg19 18q21.1(chr18:45566463-47717242)x3 copy number gain not provided [RCV004819639] Chr18:45566463..47717242 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_001353214.3(DYM):c.1626T>C (p.Ser542=) single nucleotide variant Inborn genetic diseases [RCV004974733] Chr18:49163787 [GRCh38]
Chr18:46690157 [GRCh37]
Chr18:18q21.1		 likely benign
NM_001353214.3(DYM):c.157T>G (p.Leu53Val) single nucleotide variant Inborn genetic diseases [RCV004974732] Chr18:49391629 [GRCh38]
Chr18:46917999 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_001353214.3(DYM):c.416A>C (p.Asn139Thr) single nucleotide variant Inborn genetic diseases [RCV004974730] Chr18:49378572 [GRCh38]
Chr18:46904942 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_001353214.3(DYM):c.1076A>G (p.Asn359Ser) single nucleotide variant Inborn genetic diseases [RCV004974729] Chr18:49282046 [GRCh38]
Chr18:46808416 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_001353214.3(DYM):c.1751AAG[1] (p.Glu585del) microsatellite Dyggve-Melchior-Clausen syndrome [RCV005026276] Chr18:49118899..49118901 [GRCh38]
Chr18:46645269..46645271 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_001353214.3(DYM):c.495-20_495-19del microsatellite not provided [RCV005171602] Chr18:49333872..49333873 [GRCh38]
Chr18:46860242..46860243 [GRCh37]
Chr18:18q21.1		 likely benign
NM_001353214.3(DYM):c.1830C>T (p.Tyr610=) single nucleotide variant not provided [RCV005085993] Chr18:49118825 [GRCh38]
Chr18:46645195 [GRCh37]
Chr18:18q21.1		 likely benign
NM_001353214.3(DYM):c.1215G>A (p.Thr405=) single nucleotide variant not provided [RCV005086148] Chr18:49272214 [GRCh38]
Chr18:46798584 [GRCh37]
Chr18:18q21.1		 likely benign
NM_001353214.3(DYM):c.1148T>G (p.Leu383Arg) single nucleotide variant not provided [RCV005174044] Chr18:49272281 [GRCh38]
Chr18:46798651 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_001353214.3(DYM):c.1035T>C (p.Ser345=) single nucleotide variant not provided [RCV005172341] Chr18:49282087 [GRCh38]
Chr18:46808457 [GRCh37]
Chr18:18q21.1		 likely benign
NM_001353214.3(DYM):c.1296A>G (p.Glu432=) single nucleotide variant not provided [RCV005205252] Chr18:49258449 [GRCh38]
Chr18:46784819 [GRCh37]
Chr18:18q21.1		 likely benign
NM_001353214.3(DYM):c.1626-4C>G single nucleotide variant not provided [RCV005129995] Chr18:49163791 [GRCh38]
Chr18:46690161 [GRCh37]
Chr18:18q21.1		 likely benign
NM_001353214.3(DYM):c.1839T>G (p.Leu613=) single nucleotide variant not provided [RCV005150180] Chr18:49118816 [GRCh38]
Chr18:46645186 [GRCh37]
Chr18:18q21.1		 likely benign
NM_001353214.3(DYM):c.18C>T (p.Ser6=) single nucleotide variant not provided [RCV005136020] Chr18:49430377 [GRCh38]
Chr18:46956747 [GRCh37]
Chr18:18q21.1		 likely benign
NM_001353214.3(DYM):c.421+16A>C single nucleotide variant not provided [RCV005163980] Chr18:49378551 [GRCh38]
Chr18:46904921 [GRCh37]
Chr18:18q21.1		 likely benign
NM_001353214.3(DYM):c.871T>C (p.Leu291=) single nucleotide variant not provided [RCV005182223] Chr18:49286509 [GRCh38]
Chr18:46812879 [GRCh37]
Chr18:18q21.1		 likely benign
NM_001353214.3(DYM):c.288-17G>A single nucleotide variant not provided [RCV005169054] Chr18:49378717 [GRCh38]
Chr18:46905087 [GRCh37]
Chr18:18q21.1		 likely benign
NM_001353214.3(DYM):c.880C>T (p.Leu294=) single nucleotide variant not provided [RCV005070377] Chr18:49286500 [GRCh38]
Chr18:46812870 [GRCh37]
Chr18:18q21.1		 likely benign
NM_001353214.3(DYM):c.1149G>A (p.Leu383=) single nucleotide variant not provided [RCV005193763] Chr18:49272280 [GRCh38]
Chr18:46798650 [GRCh37]
Chr18:18q21.1		 likely benign
NM_001353214.3(DYM):c.813T>C (p.Ala271=) single nucleotide variant not provided [RCV005079599] Chr18:49286567 [GRCh38]
Chr18:46812937 [GRCh37]
Chr18:18q21.1		 likely benign
NM_001353214.3(DYM):c.870G>T (p.Val290=) single nucleotide variant not provided [RCV005081526] Chr18:49286510 [GRCh38]
Chr18:46812880 [GRCh37]
Chr18:18q21.1		 likely benign
NM_001353214.3(DYM):c.1912-17A>T single nucleotide variant not provided [RCV005148573] Chr18:49097532 [GRCh38]
Chr18:46623902 [GRCh37]
Chr18:18q21.1		 likely benign
NM_001353214.3(DYM):c.600G>A (p.Lys200=) single nucleotide variant not provided [RCV005152867] Chr18:49333748 [GRCh38]
Chr18:46860118 [GRCh37]
Chr18:18q21.1		 likely benign
NM_001353214.3(DYM):c.329T>A (p.Ile110Asn) single nucleotide variant Inborn genetic diseases [RCV005326910] Chr18:49378659 [GRCh38]
Chr18:46905029 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_001353214.3(DYM):c.1381A>G (p.Thr461Ala) single nucleotide variant not provided [RCV002681718] Chr18:49257089 [GRCh38]
Chr18:46783459 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_001353214.3(DYM):c.99G>A (p.Trp33Ter) single nucleotide variant Dyggve-Melchior-Clausen syndrome [RCV003340804] Chr18:49430296 [GRCh38]
Chr18:46956666 [GRCh37]
Chr18:18q21.1		 likely pathogenic
NM_001353214.3(DYM):c.253A>T (p.Thr85Ser) single nucleotide variant Inborn genetic diseases [RCV003359242] Chr18:49379699 [GRCh38]
Chr18:46906069 [GRCh37]
Chr18:18q21.1		 uncertain significance
Single allele deletion Deletion of long arm of chromosome 18 [RCV004801487] Chr18:23614482..49306881 [GRCh38]
Chr18:18q11.2-21.1		 pathogenic
NM_001353214.3(DYM):c.553T>G (p.Cys185Gly) single nucleotide variant Inborn genetic diseases [RCV004974734] Chr18:49333795 [GRCh38]
Chr18:46860165 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_001353214.3(DYM):c.2071G>A (p.Glu691Lys) single nucleotide variant Inborn genetic diseases [RCV004974731] Chr18:49044159 [GRCh38]
Chr18:46570529 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_001353214.3(DYM):c.421+20A>G single nucleotide variant not provided [RCV005088784] Chr18:49378547 [GRCh38]
Chr18:46904917 [GRCh37]
Chr18:18q21.1		 likely benign
NM_001353214.3(DYM):c.202A>C (p.Asn68His) single nucleotide variant Inborn genetic diseases [RCV005326908] Chr18:49379750 [GRCh38]
Chr18:46906120 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_001353214.3(DYM):c.182G>T (p.Cys61Phe) single nucleotide variant Inborn genetic diseases [RCV005326909] Chr18:49391604 [GRCh38]
Chr18:46917974 [GRCh37]
Chr18:18q21.1		 uncertain significance
miRNA Target Status (No longer updated)

Predicted Target Of
Summary Value
Count of predictions:2668
Count of miRNA genes:1029
Interacting mature miRNAs:1251
Transcripts:ENST00000269445, ENST00000418472, ENST00000442713, ENST00000577481, ENST00000577734, ENST00000577836, ENST00000578396, ENST00000578596, ENST00000579058, ENST00000580615, ENST00000581409, ENST00000581738, ENST00000582095, ENST00000582399, ENST00000583225, ENST00000583270, ENST00000583280, ENST00000583353, ENST00000584977, ENST00000584983
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
597308312GWAS1404386_HBMI-adjusted hip circumference QTL GWAS1404386 (human)2e-13BMI-adjusted hip circumferencehip circumference (CMO:0000014)184903794349037944Human
597233821GWAS1329895_Happendicular lean mass QTL GWAS1329895 (human)1e-38body lean mass (VT:0010483)184908547249085473Human
597308063GWAS1404137_HBMI-adjusted hip circumference QTL GWAS1404137 (human)5e-10BMI-adjusted hip circumferencehip circumference (CMO:0000014)184916314149163142Human
597233822GWAS1329896_Happendicular lean mass QTL GWAS1329896 (human)2e-09body lean mass (VT:0010483)184911695949116960Human
597240979GWAS1337053_HBMI-adjusted waist-hip ratio QTL GWAS1337053 (human)2e-10body size trait (VT:0100005)184905180149051802Human
597308560GWAS1404634_HBMI-adjusted hip circumference QTL GWAS1404634 (human)3e-23BMI-adjusted hip circumferencehip circumference (CMO:0000014)184939713349397134Human
597240978GWAS1337052_HBMI-adjusted waist-hip ratio QTL GWAS1337052 (human)6e-09body size trait (VT:0100005)184905678349056784Human
597240981GWAS1337055_HBMI-adjusted waist-hip ratio QTL GWAS1337055 (human)2e-08body size trait (VT:0100005)184918321949183220Human
597240980GWAS1337054_HBMI-adjusted waist-hip ratio QTL GWAS1337054 (human)4e-08body size trait (VT:0100005)184906128449061285Human
597341079GWAS1437153_Hcartilage thickness measurement QTL GWAS1437153 (human)9e-20cartilage morphology trait (VT:0000163)184911441249114413Human
597308554GWAS1404628_HBMI-adjusted hip circumference QTL GWAS1404628 (human)5e-19BMI-adjusted hip circumferencehip circumference (CMO:0000014)184911004149110042Human
597308555GWAS1404629_HBMI-adjusted hip circumference QTL GWAS1404629 (human)6e-12BMI-adjusted hip circumferencehip circumference (CMO:0000014)184931787049317871Human
597308552GWAS1404626_HBMI-adjusted hip circumference QTL GWAS1404626 (human)5e-10BMI-adjusted hip circumferencehip circumference (CMO:0000014)184910594849105949Human
597308553GWAS1404627_HBMI-adjusted hip circumference QTL GWAS1404627 (human)6e-09BMI-adjusted hip circumferencehip circumference (CMO:0000014)184907940549079406Human
597308302GWAS1404376_HBMI-adjusted hip circumference QTL GWAS1404376 (human)4e-12BMI-adjusted hip circumferencehip circumference (CMO:0000014)184906651549066516Human
597339022GWAS1435096_Htotal cholesterol measurement QTL GWAS1435096 (human)5e-09blood cholesterol amount (VT:0000180)blood total cholesterol level (CMO:0000051)184908041249080413Human
597308558GWAS1404632_HBMI-adjusted hip circumference QTL GWAS1404632 (human)5e-23BMI-adjusted hip circumferencehip circumference (CMO:0000014)184917076749170768Human
597308303GWAS1404377_HBMI-adjusted hip circumference QTL GWAS1404377 (human)8e-09BMI-adjusted hip circumferencehip circumference (CMO:0000014)184922974749229748Human
597308559GWAS1404633_HBMI-adjusted hip circumference QTL GWAS1404633 (human)1e-08BMI-adjusted hip circumferencehip circumference (CMO:0000014)184945218049452181Human
597308556GWAS1404630_HBMI-adjusted hip circumference QTL GWAS1404630 (human)5e-13BMI-adjusted hip circumferencehip circumference (CMO:0000014)184911441249114413Human
597308557GWAS1404631_HBMI-adjusted hip circumference QTL GWAS1404631 (human)2e-19BMI-adjusted hip circumferencehip circumference (CMO:0000014)184924719049247191Human
597108622GWAS1204696_Hspine bone size QTL GWAS1204696 (human)1e-12vertebra morphology trait (VT:0000137)vertebra morphological measurement (CMO:0001679)184908308749083088Human
597308547GWAS1404621_HBMI-adjusted hip circumference QTL GWAS1404621 (human)2e-26BMI-adjusted hip circumferencehip circumference (CMO:0000014)184908781649087817Human
407041374GWAS690350_Hdental caries QTL GWAS690350 (human)0.000004dental caries184905360049053601Human
597308550GWAS1404624_HBMI-adjusted hip circumference QTL GWAS1404624 (human)4e-19BMI-adjusted hip circumferencehip circumference (CMO:0000014)184910820749108208Human
597308551GWAS1404625_HBMI-adjusted hip circumference QTL GWAS1404625 (human)2e-11BMI-adjusted hip circumferencehip circumference (CMO:0000014)184905945149059452Human
597308548GWAS1404622_HBMI-adjusted hip circumference QTL GWAS1404622 (human)9e-15BMI-adjusted hip circumferencehip circumference (CMO:0000014)184905360049053601Human
597308549GWAS1404623_HBMI-adjusted hip circumference QTL GWAS1404623 (human)1e-13BMI-adjusted hip circumferencehip circumference (CMO:0000014)184905494349054944Human
597317818GWAS1413892_Hbody surface area QTL GWAS1413892 (human)2e-18body surface area184907848149078482Human
597093555GWAS1189629_H3-hydroxypropylmercapturic acid measurement QTL GWAS1189629 (human)0.0000013-hydroxypropylmercapturic acid measurement184915738449157385Human
406958190GWAS607166_Hhigh density lipoprotein cholesterol measurement QTL GWAS607166 (human)2e-08blood HDL cholesterol amount (VT:0000184)blood high density lipoprotein cholesterol level (CMO:0000052)184936226949362270Human
597350315GWAS1446389_Hlean body mass QTL GWAS1446389 (human)2e-14body lean mass (VT:0010483)total body lean mass (CMO:0003950)184906603849066039Human
597192619GWAS1288693_Hsexual dimorphism measurement QTL GWAS1288693 (human)4e-12sexual dimorphism measurement184913120749131208Human
597348515GWAS1444589_Hlean body mass QTL GWAS1444589 (human)5e-16body lean mass (VT:0010483)total body lean mass (CMO:0003950)184940757549407576Human
597308064GWAS1404138_HBMI-adjusted hip circumference QTL GWAS1404138 (human)3e-26BMI-adjusted hip circumferencehip circumference (CMO:0000014)184905678349056784Human
597142227GWAS1238301_Htotal cholesterol measurement QTL GWAS1238301 (human)0.000003blood cholesterol amount (VT:0000180)blood total cholesterol level (CMO:0000051)184930858749308588Human
597337565GWAS1433639_Hsexual dimorphism measurement QTL GWAS1433639 (human)2e-09sexual dimorphism measurement184939713349397134Human
597248723GWAS1344797_Hapolipoprotein A 1 measurement QTL GWAS1344797 (human)1e-27apolipoprotein A 1 measurementblood apolipoprotein AI level (CMO:0000520)184911282849112829Human
597290698GWAS1386772_Hhigh density lipoprotein cholesterol measurement QTL GWAS1386772 (human)4e-10blood HDL cholesterol amount (VT:0000184)blood high density lipoprotein cholesterol level (CMO:0000052)184922120149221202Human
597290695GWAS1386769_Hsize QTL GWAS1386769 (human)5e-24size184931755349317554Human
597041648GWAS1137722_Happendicular lean mass QTL GWAS1137722 (human)2e-10body lean mass (VT:0010483)184911119449111195Human
596955378GWAS1074897_Hsize QTL GWAS1074897 (human)5e-24size184931755349317554Human
597043966GWAS1140040_Hbody fat distribution QTL GWAS1140040 (human)0.0000005body fat mass (VT:0010482)body fat morphological measurement (CMO:0000089)184912701049127011Human
597246450GWAS1342524_Hapolipoprotein A 1 measurement QTL GWAS1342524 (human)4e-09apolipoprotein A 1 measurementblood apolipoprotein AI level (CMO:0000520)184937620649376207Human
596975353GWAS1094872_Hbody height QTL GWAS1094872 (human)2e-67body height184909068149090682Human
597224694GWAS1320768_Htotal cholesterol measurement QTL GWAS1320768 (human)2e-09blood cholesterol amount (VT:0000180)blood total cholesterol level (CMO:0000051)184911282849112829Human
597158904GWAS1254978_Hlow density lipoprotein cholesterol measurement, phospholipids:total lipids ratio QTL GWAS1254978 (human)6e-12blood LDL cholesterol amount (VT:0000181)blood low density lipoprotein cholesterol level (CMO:0000053)184915826049158261Human
597147619GWAS1243693_Hlow density lipoprotein cholesterol measurement QTL GWAS1243693 (human)7e-11blood LDL cholesterol amount (VT:0000181)blood low density lipoprotein cholesterol level (CMO:0000053)184924719049247191Human
597147618GWAS1243692_Hlow density lipoprotein cholesterol measurement QTL GWAS1243692 (human)2e-19blood LDL cholesterol amount (VT:0000181)blood low density lipoprotein cholesterol level (CMO:0000053)184920156549201566Human
597025504GWAS1121578_Hwaist-hip ratio QTL GWAS1121578 (human)2e-16body size trait (VT:0100005)waist to hip ratio (WHR) (CMO:0000020)184932690049326901Human
596975085GWAS1094604_Hbody height QTL GWAS1094604 (human)6e-87body height184922454149224542Human
597043695GWAS1139769_Hbody fat distribution QTL GWAS1139769 (human)4e-08body fat mass (VT:0010482)body fat morphological measurement (CMO:0000089)184912701049127011Human
597204248GWAS1300322_Hgrip strength measurement QTL GWAS1300322 (human)5e-08grip strength measurement184933427349334274Human
597341727GWAS1437801_Hsexual dimorphism measurement QTL GWAS1437801 (human)2e-13sexual dimorphism measurement184905187249051873Human
597265425GWAS1361499_HBMI-adjusted hip circumference QTL GWAS1361499 (human)1e-10BMI-adjusted hip circumferencehip circumference (CMO:0000014)184916350749163508Human
597265424GWAS1361498_HBMI-adjusted hip circumference QTL GWAS1361498 (human)2e-08BMI-adjusted hip circumferencehip circumference (CMO:0000014)184918308449183085Human
597265427GWAS1361501_HBMI-adjusted hip circumference QTL GWAS1361501 (human)9e-09BMI-adjusted hip circumferencehip circumference (CMO:0000014)184937526449375265Human
597265426GWAS1361500_HBMI-adjusted hip circumference QTL GWAS1361500 (human)2e-15BMI-adjusted hip circumferencehip circumference (CMO:0000014)184939713349397134Human
597265428GWAS1361502_HBMI-adjusted hip circumference QTL GWAS1361502 (human)1e-09BMI-adjusted hip circumferencehip circumference (CMO:0000014)184939958949399590Human
597501202GWAS1597276_HBMI-adjusted hip circumference QTL GWAS1597276 (human)7e-14BMI-adjusted hip circumferencehip circumference (CMO:0000014)184904111149041112Human
597265417GWAS1361491_HBMI-adjusted hip circumference QTL GWAS1361491 (human)4e-10BMI-adjusted hip circumferencehip circumference (CMO:0000014)184921857549218576Human
597265416GWAS1361490_HBMI-adjusted hip circumference QTL GWAS1361490 (human)3e-09BMI-adjusted hip circumferencehip circumference (CMO:0000014)184938756349387564Human
597265419GWAS1361493_HBMI-adjusted hip circumference QTL GWAS1361493 (human)2e-09BMI-adjusted hip circumferencehip circumference (CMO:0000014)184905494349054944Human
597265418GWAS1361492_HBMI-adjusted hip circumference QTL GWAS1361492 (human)4e-13BMI-adjusted hip circumferencehip circumference (CMO:0000014)184924719049247191Human
597265421GWAS1361495_HBMI-adjusted hip circumference QTL GWAS1361495 (human)7e-21BMI-adjusted hip circumferencehip circumference (CMO:0000014)184922454149224542Human
597265420GWAS1361494_HBMI-adjusted hip circumference QTL GWAS1361494 (human)2e-10BMI-adjusted hip circumferencehip circumference (CMO:0000014)184914274449142745Human
597265423GWAS1361497_HBMI-adjusted hip circumference QTL GWAS1361497 (human)3e-11BMI-adjusted hip circumferencehip circumference (CMO:0000014)184911441249114413Human
597265422GWAS1361496_HBMI-adjusted hip circumference QTL GWAS1361496 (human)9e-10BMI-adjusted hip circumferencehip circumference (CMO:0000014)184911004149110042Human
597036046GWAS1132120_Hhigh density lipoprotein cholesterol measurement QTL GWAS1132120 (human)6e-12blood HDL cholesterol amount (VT:0000184)blood high density lipoprotein cholesterol level (CMO:0000052)184925464449254645Human
407079130GWAS728106_Hwaist-hip ratio QTL GWAS728106 (human)5e-08body size trait (VT:0100005)waist to hip ratio (WHR) (CMO:0000020)184935865549358656Human
596989449GWAS1108968_Hhigh density lipoprotein cholesterol measurement QTL GWAS1108968 (human)5e-10high density lipoprotein cholesterol measurement184910540949105410Human
596989448GWAS1108967_Hhigh density lipoprotein cholesterol measurement QTL GWAS1108967 (human)4e-10high density lipoprotein cholesterol measurement184922120149221202Human
597265415GWAS1361489_HBMI-adjusted hip circumference QTL GWAS1361489 (human)9e-11BMI-adjusted hip circumferencehip circumference (CMO:0000014)184903818949038190Human
597244422GWAS1340496_Hhigh density lipoprotein cholesterol measurement QTL GWAS1340496 (human)5e-09blood HDL cholesterol amount (VT:0000184)blood high density lipoprotein cholesterol level (CMO:0000052)184944606849446069Human
597208121GWAS1304195_Hcutaneous Leishmaniasis QTL GWAS1304195 (human)0.000002response to parasitic infection trait (VT:0010437)184923978449239785Human
597308722GWAS1404796_HBMI-adjusted hip circumference QTL GWAS1404796 (human)2e-11BMI-adjusted hip circumferencehip circumference (CMO:0000014)184929733049297331Human
597308723GWAS1404797_HBMI-adjusted hip circumference QTL GWAS1404797 (human)3e-12BMI-adjusted hip circumferencehip circumference (CMO:0000014)184937526449375265Human
597308721GWAS1404795_HBMI-adjusted hip circumference QTL GWAS1404795 (human)7e-13BMI-adjusted hip circumferencehip circumference (CMO:0000014)184942343049423431Human
597061434GWAS1157508_HBMI-adjusted waist-hip ratio QTL GWAS1157508 (human)2e-08body size trait (VT:0100005)184933902149339022Human
597061432GWAS1157506_HBMI-adjusted waist-hip ratio QTL GWAS1157506 (human)6e-11body size trait (VT:0100005)184919649249196493Human
597308724GWAS1404798_HBMI-adjusted hip circumference QTL GWAS1404798 (human)1e-08BMI-adjusted hip circumferencehip circumference (CMO:0000014)184939958949399590Human
406957302GWAS606278_Hbody fat percentage QTL GWAS606278 (human)3e-08body fat mass (VT:0010482)body fat percentage (CMO:0000302)184931120849311209Human
597164837GWAS1260911_HBMI-adjusted waist-hip ratio QTL GWAS1260911 (human)8e-10body size trait (VT:0100005)184905180149051802Human
597328423GWAS1424497_Hsexual dimorphism measurement QTL GWAS1424497 (human)5e-08sexual dimorphism measurement184905678349056784Human
597240870GWAS1336944_Hhigh density lipoprotein cholesterol measurement QTL GWAS1336944 (human)2e-21blood HDL cholesterol amount (VT:0000184)blood high density lipoprotein cholesterol level (CMO:0000052)184911282849112829Human
407073408GWAS722384_HBMI-adjusted waist-hip ratio QTL GWAS722384 (human)2e-13body size trait (VT:0100005)184935865549358656Human
597251933GWAS1348007_Hapolipoprotein A 1 measurement QTL GWAS1348007 (human)7e-10apolipoprotein A 1 measurementblood apolipoprotein AI level (CMO:0000520)184944606849446069Human
597290588GWAS1386662_Hhigh density lipoprotein cholesterol measurement QTL GWAS1386662 (human)5e-10blood HDL cholesterol amount (VT:0000184)blood high density lipoprotein cholesterol level (CMO:0000052)184910540949105410Human
597031504GWAS1127578_Hwaist-hip ratio QTL GWAS1127578 (human)3e-16body size trait (VT:0100005)waist to hip ratio (WHR) (CMO:0000020)184936356849363569Human
597336924GWAS1432998_Htriglyceride measurement QTL GWAS1432998 (human)2e-08triglyceride amount (VT:0000187)blood triglyceride level (CMO:0000118)184908041249080413Human
597166174GWAS1262248_Hlow density lipoprotein cholesterol measurement, phospholipids:total lipids ratio QTL GWAS1262248 (human)1e-16blood LDL cholesterol amount (VT:0000181)blood low density lipoprotein cholesterol level (CMO:0000053)184915826049158261Human
597142621GWAS1238695_Hhigh density lipoprotein cholesterol measurement QTL GWAS1238695 (human)4e-12blood HDL cholesterol amount (VT:0000184)blood high density lipoprotein cholesterol level (CMO:0000052)184920156549201566Human
597042779GWAS1138853_Hbody fat distribution QTL GWAS1138853 (human)2e-10body fat mass (VT:0010482)body fat morphological measurement (CMO:0000089)184912701049127011Human
597339733GWAS1435807_Hcomplex trait QTL GWAS1435807 (human)6e-12complex trait184905187249051873Human
597203528GWAS1299602_Hgrip strength measurement QTL GWAS1299602 (human)1e-08grip strength measurement184942117149421172Human
407052703GWAS701679_Hwaist-hip ratio QTL GWAS701679 (human)4e-12body size trait (VT:0100005)waist to hip ratio (WHR) (CMO:0000020)184904141449041415Human
597043570GWAS1139644_Hbody fat distribution QTL GWAS1139644 (human)5e-10body fat mass (VT:0010482)body fat morphological measurement (CMO:0000089)184912701049127011Human
597042803GWAS1138877_Happendicular lean mass QTL GWAS1138877 (human)7e-10body lean mass (VT:0010483)184945881749458818Human
597041520GWAS1137594_Happendicular lean mass QTL GWAS1137594 (human)6e-09body lean mass (VT:0010483)184922167249221673Human
597343091GWAS1439165_Hcomplex trait QTL GWAS1439165 (human)1e-13complex trait184905187249051873Human
597342321GWAS1438395_Hhigh density lipoprotein cholesterol measurement QTL GWAS1438395 (human)5e-11blood HDL cholesterol amount (VT:0000184)blood high density lipoprotein cholesterol level (CMO:0000052)184908041249080413Human
406958253GWAS607229_Hhigh density lipoprotein cholesterol measurement QTL GWAS607229 (human)4e-08blood HDL cholesterol amount (VT:0000184)blood high density lipoprotein cholesterol level (CMO:0000052)184922769449227695Human
597039718GWAS1135792_Hapolipoprotein A 1 measurement QTL GWAS1135792 (human)3e-13apolipoprotein A 1 measurementblood apolipoprotein AI level (CMO:0000520)184925464449254645Human
597204075GWAS1300149_Hgrip strength measurement QTL GWAS1300149 (human)5e-11grip strength measurement184906603849066039Human
597059683GWAS1155757_HBMI-adjusted waist circumference QTL GWAS1155757 (human)4e-08body size trait (VT:0100005)184937526449375265Human

Markers in Region
SHGC-77740  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371846,687,194 - 46,687,528UniSTSGRCh37
Build 361844,941,192 - 44,941,526RGDNCBI36
Celera1843,541,617 - 43,541,951RGD
Cytogenetic Map18q21.1UniSTS
HuRef1843,540,454 - 43,540,788UniSTS
TNG Radiation Hybrid Map1818443.0UniSTS
G62992  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371846,878,840 - 46,879,115UniSTSGRCh37
Build 361845,132,838 - 45,133,113RGDNCBI36
Celera1843,733,294 - 43,733,569RGD
Cytogenetic Map18q21.1UniSTS
HuRef1843,732,413 - 43,732,688UniSTS
TNG Radiation Hybrid Map1818571.0UniSTS
D18S106E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371846,797,252 - 46,797,433UniSTSGRCh37
GRCh371846,797,473 - 46,797,567UniSTSGRCh37
Build 361845,051,471 - 45,051,565RGDNCBI36
Celera1843,651,900 - 43,651,994RGD
Celera1843,651,679 - 43,651,860UniSTS
Cytogenetic Map18q21.1UniSTS
HuRef1843,651,048 - 43,651,142UniSTS
HuRef1843,650,827 - 43,651,008UniSTS
TNG Radiation Hybrid Map1818519.0UniSTS
Stanford-G3 RH Map181845.0UniSTS
NCBI RH Map18590.6UniSTS
GeneMap99-G3 RH Map181845.0UniSTS
SHGC-144774  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371846,581,716 - 46,582,008UniSTSGRCh37
Build 361844,835,714 - 44,836,006RGDNCBI36
Celera1843,435,253 - 43,435,545RGD
Cytogenetic Map18q21.1UniSTS
HuRef1843,434,457 - 43,434,749UniSTS
TNG Radiation Hybrid Map1818392.0UniSTS
WI-17768  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371846,924,292 - 46,924,391UniSTSGRCh37
Build 361845,178,290 - 45,178,389RGDNCBI36
Celera1843,778,716 - 43,778,815RGD
Cytogenetic Map18q21.1UniSTS
HuRef1843,777,865 - 43,777,964UniSTS
GeneMap99-GB4 RH Map18347.85UniSTS
Whitehead-RH Map18345.8UniSTS
NCBI RH Map18589.6UniSTS
SHGC-144977  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371846,972,686 - 46,973,030UniSTSGRCh37
Build 361845,226,684 - 45,227,028RGDNCBI36
Celera1843,828,064 - 43,828,408RGD
Cytogenetic Map18q21.1UniSTS
HuRef1843,826,412 - 43,826,706UniSTS
TNG Radiation Hybrid Map1818639.0UniSTS
SHGC-154967  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371846,835,527 - 46,835,733UniSTSGRCh37
Build 361845,089,525 - 45,089,731RGDNCBI36
Celera1843,689,949 - 43,690,155RGD
Cytogenetic Map18q21.1UniSTS
HuRef1843,689,089 - 43,689,295UniSTS
TNG Radiation Hybrid Map1818554.0UniSTS
RH46385  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371846,670,769 - 46,670,938UniSTSGRCh37
Build 361844,924,767 - 44,924,936RGDNCBI36
Celera1843,525,185 - 43,525,354RGD
Cytogenetic Map18q21.1UniSTS
HuRef1843,524,021 - 43,524,190UniSTS
GeneMap99-GB4 RH Map18379.84UniSTS
NCBI RH Map18589.6UniSTS
SHGC-30879  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371846,621,849 - 46,621,992UniSTSGRCh37
Build 361844,875,847 - 44,875,990RGDNCBI36
Celera1843,476,265 - 43,476,408RGD
Cytogenetic Map18q21.1UniSTS
HuRef1843,475,105 - 43,475,248UniSTS
Stanford-G3 RH Map181850.0UniSTS
GeneMap99-GB4 RH Map18347.95UniSTS
Whitehead-RH Map18345.4UniSTS
NCBI RH Map18591.6UniSTS
GeneMap99-G3 RH Map181850.0UniSTS
D18S361E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371846,733,738 - 46,733,831UniSTSGRCh37
GRCh371846,733,669 - 46,733,760UniSTSGRCh37
Build 361844,987,667 - 44,987,758RGDNCBI36
Celera1843,588,165 - 43,588,258UniSTS
Celera1843,588,096 - 43,588,187RGD
HuRef1843,587,354 - 43,587,447UniSTS
HuRef1843,587,285 - 43,587,376UniSTS
GeneMap99-GB4 RH Map18347.85UniSTS
NCBI RH Map18589.6UniSTS
RH46012  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371846,962,673 - 46,962,834UniSTSGRCh37
Build 361845,216,671 - 45,216,832RGDNCBI36
Celera1843,818,069 - 43,818,230RGD
Cytogenetic Map18q21.1UniSTS
HuRef1843,816,237 - 43,816,398UniSTS
GeneMap99-GB4 RH Map18347.85UniSTS
NCBI RH Map18589.6UniSTS
D18S917E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371846,570,206 - 46,570,360UniSTSGRCh37
Build 361844,824,204 - 44,824,358RGDNCBI36
Celera1843,423,743 - 43,423,897RGD
Cytogenetic Map18q21.1UniSTS
HuRef1843,422,952 - 43,423,106UniSTS
GeneMap99-GB4 RH Map18347.85UniSTS
NCBI RH Map18589.6UniSTS
D18S106E  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map18q21.1UniSTS
D18S361E  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map18q21.1UniSTS
GeneMap99-GB4 RH Map18347.85UniSTS
NCBI RH Map18589.6UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2439 2788 2253 4974 1726 2351 6 624 1951 465 2270 7306 6472 53 3734 1 852 1744 1617 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_009239 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001353210 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001353211 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001353212 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001353213 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001353214 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001353215 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001353216 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001374428 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001374429 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001374430 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001374431 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001374432 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001374433 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001374434 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001374435 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001374436 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001374437 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001374438 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001374439 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001374440 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001374441 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001374442 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001374443 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001374444 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_017653 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006722492 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011526036 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011526037 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011526038 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011526039 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011526040 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011526041 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011526042 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017025795 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017025796 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047437553 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047437554 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047437555 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047437556 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047437557 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047437558 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047437559 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047437560 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054318697 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054318698 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054318699 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054318700 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054318701 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054318702 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054318703 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054318704 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054318705 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054318706 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054318707 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054318708 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054318709 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054318710 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054318711 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054318712 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054318713 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002958177 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC016866 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC044840 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC090329 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC100778 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI753005 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK000078 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK074611 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK091256 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK225205 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK291303 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK296579 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK315091 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL390156 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY364250 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC001252 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC064394 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BK000950 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ021755 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471096 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068260 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ925676 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000269445   ⟹   ENSP00000269445
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1849,041,474 - 49,460,802 (-)Ensembl
Ensembl Acc Id: ENST00000418472   ⟹   ENSP00000415292
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1849,286,448 - 49,411,941 (-)Ensembl
Ensembl Acc Id: ENST00000442713   ⟹   ENSP00000395942
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1849,043,669 - 49,460,665 (-)Ensembl
Ensembl Acc Id: ENST00000577481
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1849,379,746 - 49,460,638 (-)Ensembl
Ensembl Acc Id: ENST00000577734   ⟹   ENSP00000464163
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1849,043,804 - 49,097,493 (-)Ensembl
Ensembl Acc Id: ENST00000577836
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1849,417,939 - 49,460,641 (-)Ensembl
Ensembl Acc Id: ENST00000578396   ⟹   ENSP00000463892
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1849,321,125 - 49,378,649 (-)Ensembl
Ensembl Acc Id: ENST00000578596
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1849,363,219 - 49,413,132 (-)Ensembl
Ensembl Acc Id: ENST00000579058   ⟹   ENSP00000462954
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1849,378,623 - 49,460,627 (-)Ensembl
Ensembl Acc Id: ENST00000580615
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1849,286,452 - 49,359,872 (-)Ensembl
Ensembl Acc Id: ENST00000581409
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1849,391,610 - 49,460,643 (-)Ensembl
Ensembl Acc Id: ENST00000581738   ⟹   ENSP00000464183
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1849,286,489 - 49,368,713 (-)Ensembl
Ensembl Acc Id: ENST00000582095
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1849,391,620 - 49,460,645 (-)Ensembl
Ensembl Acc Id: ENST00000582399   ⟹   ENSP00000462657
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1849,163,711 - 49,258,408 (-)Ensembl
Ensembl Acc Id: ENST00000583225   ⟹   ENSP00000464653
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1849,286,488 - 49,368,697 (-)Ensembl
Ensembl Acc Id: ENST00000583270
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1849,097,185 - 49,116,189 (-)Ensembl
Ensembl Acc Id: ENST00000583280   ⟹   ENSP00000462466
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1849,286,497 - 49,368,707 (-)Ensembl
Ensembl Acc Id: ENST00000583353   ⟹   ENSP00000464089
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1849,378,659 - 49,461,347 (-)Ensembl
Ensembl Acc Id: ENST00000584977
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1849,390,720 - 49,460,714 (-)Ensembl
Ensembl Acc Id: ENST00000584983   ⟹   ENSP00000461989
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1849,282,168 - 49,368,706 (-)Ensembl
Ensembl Acc Id: ENST00000675505   ⟹   ENSP00000501694
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1849,036,387 - 49,460,645 (-)Ensembl
RefSeq Acc Id: NM_001353210   ⟹   NP_001340139
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381849,036,387 - 49,460,645 (-)NCBI
T2T-CHM13v2.01849,231,816 - 49,658,383 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001353211   ⟹   NP_001340140
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381849,036,387 - 49,460,645 (-)NCBI
T2T-CHM13v2.01849,231,816 - 49,658,383 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001353212   ⟹   NP_001340141
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381849,036,387 - 49,460,645 (-)NCBI
T2T-CHM13v2.01849,231,816 - 49,658,383 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001353213   ⟹   NP_001340142
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381849,036,387 - 49,460,645 (-)NCBI
T2T-CHM13v2.01849,231,816 - 49,658,383 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001353214   ⟹   NP_001340143
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381849,036,387 - 49,460,645 (-)NCBI
T2T-CHM13v2.01849,231,816 - 49,658,383 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001353215   ⟹   NP_001340144
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381849,036,387 - 49,460,645 (-)NCBI
T2T-CHM13v2.01849,231,816 - 49,658,383 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001353216   ⟹   NP_001340145
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381849,036,387 - 49,460,645 (-)NCBI
T2T-CHM13v2.01849,231,816 - 49,658,383 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001374428   ⟹   NP_001361357
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381849,036,387 - 49,460,645 (-)NCBI
T2T-CHM13v2.01849,231,816 - 49,658,383 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001374429   ⟹   NP_001361358
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381849,036,387 - 49,460,645 (-)NCBI
T2T-CHM13v2.01849,231,816 - 49,658,383 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001374430   ⟹   NP_001361359
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381849,036,387 - 49,460,645 (-)NCBI
T2T-CHM13v2.01849,231,816 - 49,658,383 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001374431   ⟹   NP_001361360
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381849,036,387 - 49,460,645 (-)NCBI
T2T-CHM13v2.01849,231,816 - 49,658,383 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001374432   ⟹   NP_001361361
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381849,036,387 - 49,460,645 (-)NCBI
T2T-CHM13v2.01849,231,816 - 49,658,383 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001374433   ⟹   NP_001361362
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381849,036,387 - 49,460,645 (-)NCBI
T2T-CHM13v2.01849,231,816 - 49,658,383 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001374434   ⟹   NP_001361363
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381849,036,387 - 49,460,645 (-)NCBI
T2T-CHM13v2.01849,231,816 - 49,658,383 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001374435   ⟹   NP_001361364
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381849,036,387 - 49,460,645 (-)NCBI
T2T-CHM13v2.01849,231,816 - 49,658,383 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001374436   ⟹   NP_001361365
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381849,036,387 - 49,460,645 (-)NCBI
T2T-CHM13v2.01849,231,816 - 49,658,383 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001374437   ⟹   NP_001361366
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381849,036,387 - 49,460,645 (-)NCBI
T2T-CHM13v2.01849,231,816 - 49,658,383 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001374438   ⟹   NP_001361367
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381849,036,387 - 49,460,645 (-)NCBI
T2T-CHM13v2.01849,231,816 - 49,658,383 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001374439   ⟹   NP_001361368
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381849,036,387 - 49,460,645 (-)NCBI
T2T-CHM13v2.01849,231,816 - 49,658,383 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001374440   ⟹   NP_001361369
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381849,036,387 - 49,460,645 (-)NCBI
T2T-CHM13v2.01849,231,816 - 49,658,383 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001374441   ⟹   NP_001361370
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381849,036,387 - 49,460,645 (-)NCBI
T2T-CHM13v2.01849,231,816 - 49,658,383 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001374442   ⟹   NP_001361371
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381849,036,387 - 49,460,645 (-)NCBI
T2T-CHM13v2.01849,231,816 - 49,658,383 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001374443   ⟹   NP_001361372
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381849,036,387 - 49,460,645 (-)NCBI
T2T-CHM13v2.01849,231,816 - 49,658,383 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001374444   ⟹   NP_001361373
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381849,036,387 - 49,460,645 (-)NCBI
T2T-CHM13v2.01849,231,816 - 49,658,383 (-)NCBI
Sequence:
RefSeq Acc Id: NM_017653   ⟹   NP_060123
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381849,036,387 - 49,460,645 (-)NCBI
GRCh371846,567,846 - 46,987,172 (-)NCBI
Build 361844,824,170 - 45,241,077 (-)NCBI Archive
HuRef1843,422,918 - 43,840,755 (-)ENTREZGENE
CHM1_11846,565,142 - 46,982,392 (-)NCBI
T2T-CHM13v2.01849,231,816 - 49,658,383 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006722492   ⟹   XP_006722555
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381849,248,325 - 49,460,645 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011526036   ⟹   XP_011524338
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381849,036,387 - 49,460,645 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011526037   ⟹   XP_011524339
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381849,036,387 - 49,460,645 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011526038   ⟹   XP_011524340
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381849,036,387 - 49,460,645 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011526039   ⟹   XP_011524341
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381849,092,102 - 49,460,645 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011526041   ⟹   XP_011524343
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381849,036,387 - 49,460,645 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011526042   ⟹   XP_011524344
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381849,092,102 - 49,460,645 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017025795   ⟹   XP_016881284
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381849,036,387 - 49,460,645 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047437553   ⟹   XP_047293509
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381849,036,387 - 49,460,645 (-)NCBI
RefSeq Acc Id: XM_047437554   ⟹   XP_047293510
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381849,036,387 - 49,460,645 (-)NCBI
RefSeq Acc Id: XM_047437555   ⟹   XP_047293511
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381849,036,387 - 49,460,645 (-)NCBI
RefSeq Acc Id: XM_047437556   ⟹   XP_047293512
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381849,036,387 - 49,460,645 (-)NCBI
RefSeq Acc Id: XM_047437557   ⟹   XP_047293513
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381849,097,426 - 49,460,645 (-)NCBI
RefSeq Acc Id: XM_047437558   ⟹   XP_047293514
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381849,036,387 - 49,460,645 (-)NCBI
RefSeq Acc Id: XM_047437559   ⟹   XP_047293515
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381849,036,387 - 49,460,645 (-)NCBI
RefSeq Acc Id: XM_047437560   ⟹   XP_047293516
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381849,092,102 - 49,460,645 (-)NCBI
RefSeq Acc Id: XM_054318697   ⟹   XP_054174672
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01849,231,816 - 49,658,383 (-)NCBI
RefSeq Acc Id: XM_054318698   ⟹   XP_054174673
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01849,231,816 - 49,658,383 (-)NCBI
RefSeq Acc Id: XM_054318699   ⟹   XP_054174674
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01849,231,816 - 49,658,383 (-)NCBI
RefSeq Acc Id: XM_054318700   ⟹   XP_054174675
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01849,231,816 - 49,658,383 (-)NCBI
RefSeq Acc Id: XM_054318701   ⟹   XP_054174676
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01849,288,528 - 49,658,383 (-)NCBI
RefSeq Acc Id: XM_054318702   ⟹   XP_054174677
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01849,231,816 - 49,658,383 (-)NCBI
RefSeq Acc Id: XM_054318703   ⟹   XP_054174678
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01849,288,528 - 49,658,383 (-)NCBI
RefSeq Acc Id: XM_054318704   ⟹   XP_054174679
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01849,231,816 - 49,658,383 (-)NCBI
RefSeq Acc Id: XM_054318705   ⟹   XP_054174680
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01849,231,816 - 49,658,383 (-)NCBI
RefSeq Acc Id: XM_054318706   ⟹   XP_054174681
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01849,231,816 - 49,658,383 (-)NCBI
RefSeq Acc Id: XM_054318707   ⟹   XP_054174682
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01849,231,816 - 49,658,383 (-)NCBI
RefSeq Acc Id: XM_054318708   ⟹   XP_054174683
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01849,293,852 - 49,658,383 (-)NCBI
RefSeq Acc Id: XM_054318709   ⟹   XP_054174684
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01849,231,816 - 49,658,383 (-)NCBI
RefSeq Acc Id: XM_054318710   ⟹   XP_054174685
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01849,231,816 - 49,658,383 (-)NCBI
RefSeq Acc Id: XM_054318711   ⟹   XP_054174686
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01849,231,816 - 49,569,630 (-)NCBI
RefSeq Acc Id: XM_054318712   ⟹   XP_054174687
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01849,440,468 - 49,658,383 (-)NCBI
RefSeq Acc Id: XM_054318713   ⟹   XP_054174688
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01849,288,528 - 49,658,383 (-)NCBI
Protein Sequences
Protein RefSeqs NP_001340139 (Get FASTA)   NCBI Sequence Viewer  
  NP_001340140 (Get FASTA)   NCBI Sequence Viewer  
  NP_001340141 (Get FASTA)   NCBI Sequence Viewer  
  NP_001340142 (Get FASTA)   NCBI Sequence Viewer  
  NP_001340143 (Get FASTA)   NCBI Sequence Viewer  
  NP_001340144 (Get FASTA)   NCBI Sequence Viewer  
  NP_001340145 (Get FASTA)   NCBI Sequence Viewer  
  NP_001361357 (Get FASTA)   NCBI Sequence Viewer  
  NP_001361358 (Get FASTA)   NCBI Sequence Viewer  
  NP_001361359 (Get FASTA)   NCBI Sequence Viewer  
  NP_001361360 (Get FASTA)   NCBI Sequence Viewer  
  NP_001361361 (Get FASTA)   NCBI Sequence Viewer  
  NP_001361362 (Get FASTA)   NCBI Sequence Viewer  
  NP_001361363 (Get FASTA)   NCBI Sequence Viewer  
  NP_001361364 (Get FASTA)   NCBI Sequence Viewer  
  NP_001361365 (Get FASTA)   NCBI Sequence Viewer  
  NP_001361366 (Get FASTA)   NCBI Sequence Viewer  
  NP_001361367 (Get FASTA)   NCBI Sequence Viewer  
  NP_001361368 (Get FASTA)   NCBI Sequence Viewer  
  NP_001361369 (Get FASTA)   NCBI Sequence Viewer  
  NP_001361370 (Get FASTA)   NCBI Sequence Viewer  
  NP_001361371 (Get FASTA)   NCBI Sequence Viewer  
  NP_001361372 (Get FASTA)   NCBI Sequence Viewer  
  NP_001361373 (Get FASTA)   NCBI Sequence Viewer  
  NP_060123 (Get FASTA)   NCBI Sequence Viewer  
  XP_006722555 (Get FASTA)   NCBI Sequence Viewer  
  XP_011524338 (Get FASTA)   NCBI Sequence Viewer  
  XP_011524339 (Get FASTA)   NCBI Sequence Viewer  
  XP_011524340 (Get FASTA)   NCBI Sequence Viewer  
  XP_011524341 (Get FASTA)   NCBI Sequence Viewer  
  XP_011524343 (Get FASTA)   NCBI Sequence Viewer  
  XP_011524344 (Get FASTA)   NCBI Sequence Viewer  
  XP_016881284 (Get FASTA)   NCBI Sequence Viewer  
  XP_047293509 (Get FASTA)   NCBI Sequence Viewer  
  XP_047293510 (Get FASTA)   NCBI Sequence Viewer  
  XP_047293511 (Get FASTA)   NCBI Sequence Viewer  
  XP_047293512 (Get FASTA)   NCBI Sequence Viewer  
  XP_047293513 (Get FASTA)   NCBI Sequence Viewer  
  XP_047293514 (Get FASTA)   NCBI Sequence Viewer  
  XP_047293515 (Get FASTA)   NCBI Sequence Viewer  
  XP_047293516 (Get FASTA)   NCBI Sequence Viewer  
  XP_054174672 (Get FASTA)   NCBI Sequence Viewer  
  XP_054174673 (Get FASTA)   NCBI Sequence Viewer  
  XP_054174674 (Get FASTA)   NCBI Sequence Viewer  
  XP_054174675 (Get FASTA)   NCBI Sequence Viewer  
  XP_054174676 (Get FASTA)   NCBI Sequence Viewer  
  XP_054174677 (Get FASTA)   NCBI Sequence Viewer  
  XP_054174678 (Get FASTA)   NCBI Sequence Viewer  
  XP_054174679 (Get FASTA)   NCBI Sequence Viewer  
  XP_054174680 (Get FASTA)   NCBI Sequence Viewer  
  XP_054174681 (Get FASTA)   NCBI Sequence Viewer  
  XP_054174682 (Get FASTA)   NCBI Sequence Viewer  
  XP_054174683 (Get FASTA)   NCBI Sequence Viewer  
  XP_054174684 (Get FASTA)   NCBI Sequence Viewer  
  XP_054174685 (Get FASTA)   NCBI Sequence Viewer  
  XP_054174686 (Get FASTA)   NCBI Sequence Viewer  
  XP_054174687 (Get FASTA)   NCBI Sequence Viewer  
  XP_054174688 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH01252 (Get FASTA)   NCBI Sequence Viewer  
  AAH64394 (Get FASTA)   NCBI Sequence Viewer  
  AAQ76809 (Get FASTA)   NCBI Sequence Viewer  
  ABL59903 (Get FASTA)   NCBI Sequence Viewer  
  BAA90931 (Get FASTA)   NCBI Sequence Viewer  
  BAC11088 (Get FASTA)   NCBI Sequence Viewer  
  BAF83992 (Get FASTA)   NCBI Sequence Viewer  
  BAG37556 (Get FASTA)   NCBI Sequence Viewer  
  BAG52319 (Get FASTA)   NCBI Sequence Viewer  
  BAG59199 (Get FASTA)   NCBI Sequence Viewer  
  CAB99092 (Get FASTA)   NCBI Sequence Viewer  
  DAA00396 (Get FASTA)   NCBI Sequence Viewer  
  EAW62932 (Get FASTA)   NCBI Sequence Viewer  
  EAW62933 (Get FASTA)   NCBI Sequence Viewer  
  EAW62934 (Get FASTA)   NCBI Sequence Viewer  
  EAW62935 (Get FASTA)   NCBI Sequence Viewer  
  EAW62936 (Get FASTA)   NCBI Sequence Viewer  
  EAW62937 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000269445
  ENSP00000269445.6
  ENSP00000395942
  ENSP00000395942.2
  ENSP00000501694
GenBank Protein Q7RTS9 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_060123   ⟸   NM_017653
- Peptide Label: isoform 1
- UniProtKB: Q9BVE9 (UniProtKB/Swiss-Prot),   Q8N2M0 (UniProtKB/Swiss-Prot),   Q6P2P5 (UniProtKB/Swiss-Prot),   Q3ZTS8 (UniProtKB/Swiss-Prot),   B4DKI7 (UniProtKB/Swiss-Prot),   B2RCF9 (UniProtKB/Swiss-Prot),   A8K5I8 (UniProtKB/Swiss-Prot),   Q9NPU7 (UniProtKB/Swiss-Prot),   Q7RTS9 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_006722555   ⟸   XM_006722492
- Peptide Label: isoform X15
- Sequence:
RefSeq Acc Id: XP_011524339   ⟸   XM_011526037
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_011524340   ⟸   XM_011526038
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_011524343   ⟸   XM_011526041
- Peptide Label: isoform X6
- Sequence:
RefSeq Acc Id: XP_011524338   ⟸   XM_011526036
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011524341   ⟸   XM_011526039
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: XP_011524344   ⟸   XM_011526042
- Peptide Label: isoform X7
- Sequence:
RefSeq Acc Id: XP_016881284   ⟸   XM_017025795
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: NP_001340140   ⟸   NM_001353211
- Peptide Label: isoform 3
- Sequence:
RefSeq Acc Id: NP_001340141   ⟸   NM_001353212
- Peptide Label: isoform 4
- Sequence:
RefSeq Acc Id: NP_001340139   ⟸   NM_001353210
- Peptide Label: isoform 2
- Sequence:
RefSeq Acc Id: NP_001340142   ⟸   NM_001353213
- Peptide Label: isoform 5
- Sequence:
RefSeq Acc Id: NP_001340145   ⟸   NM_001353216
- Peptide Label: isoform 8
- Sequence:
RefSeq Acc Id: NP_001340144   ⟸   NM_001353215
- Peptide Label: isoform 7
- Sequence:
RefSeq Acc Id: NP_001340143   ⟸   NM_001353214
- Peptide Label: isoform 6
- UniProtKB: A0A6Q8PF81 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001361368   ⟸   NM_001374439
- Peptide Label: isoform 19
RefSeq Acc Id: NP_001361358   ⟸   NM_001374429
- Peptide Label: isoform 9
RefSeq Acc Id: NP_001361372   ⟸   NM_001374443
- Peptide Label: isoform 23
RefSeq Acc Id: NP_001361373   ⟸   NM_001374444
- Peptide Label: isoform 24
RefSeq Acc Id: NP_001361371   ⟸   NM_001374442
- Peptide Label: isoform 22
RefSeq Acc Id: NP_001361370   ⟸   NM_001374441
- Peptide Label: isoform 21
RefSeq Acc Id: NP_001361369   ⟸   NM_001374440
- Peptide Label: isoform 20
RefSeq Acc Id: NP_001361365   ⟸   NM_001374436
- Peptide Label: isoform 16
RefSeq Acc Id: NP_001361361   ⟸   NM_001374432
- Peptide Label: isoform 12
RefSeq Acc Id: NP_001361366   ⟸   NM_001374437
- Peptide Label: isoform 17
RefSeq Acc Id: NP_001361367   ⟸   NM_001374438
- Peptide Label: isoform 18
RefSeq Acc Id: NP_001361364   ⟸   NM_001374435
- Peptide Label: isoform 15
RefSeq Acc Id: NP_001361363   ⟸   NM_001374434
- Peptide Label: isoform 14
RefSeq Acc Id: NP_001361362   ⟸   NM_001374433
- Peptide Label: isoform 13
RefSeq Acc Id: NP_001361360   ⟸   NM_001374431
- Peptide Label: isoform 11
RefSeq Acc Id: NP_001361359   ⟸   NM_001374430
- Peptide Label: isoform 10
RefSeq Acc Id: NP_001361357   ⟸   NM_001374428
- Peptide Label: isoform 6
- UniProtKB: A0A6Q8PF81 (UniProtKB/TrEMBL)
Ensembl Acc Id: ENSP00000464183   ⟸   ENST00000581738
Ensembl Acc Id: ENSP00000462657   ⟸   ENST00000582399
Ensembl Acc Id: ENSP00000462466   ⟸   ENST00000583280
Ensembl Acc Id: ENSP00000464653   ⟸   ENST00000583225
Ensembl Acc Id: ENSP00000269445   ⟸   ENST00000269445
Ensembl Acc Id: ENSP00000464089   ⟸   ENST00000583353
Ensembl Acc Id: ENSP00000461989   ⟸   ENST00000584983
Ensembl Acc Id: ENSP00000395942   ⟸   ENST00000442713
Ensembl Acc Id: ENSP00000415292   ⟸   ENST00000418472
Ensembl Acc Id: ENSP00000464163   ⟸   ENST00000577734
Ensembl Acc Id: ENSP00000463892   ⟸   ENST00000578396
Ensembl Acc Id: ENSP00000462954   ⟸   ENST00000579058
Ensembl Acc Id: ENSP00000501694   ⟸   ENST00000675505
RefSeq Acc Id: XP_047293515   ⟸   XM_047437559
- Peptide Label: isoform X14
RefSeq Acc Id: XP_047293509   ⟸   XM_047437553
- Peptide Label: isoform X8
RefSeq Acc Id: XP_047293512   ⟸   XM_047437556
- Peptide Label: isoform X11
RefSeq Acc Id: XP_047293510   ⟸   XM_047437554
- Peptide Label: isoform X9
RefSeq Acc Id: XP_047293511   ⟸   XM_047437555
- Peptide Label: isoform X10
RefSeq Acc Id: XP_047293514   ⟸   XM_047437558
- Peptide Label: isoform X13
RefSeq Acc Id: XP_047293516   ⟸   XM_047437560
- Peptide Label: isoform X16
RefSeq Acc Id: XP_047293513   ⟸   XM_047437557
- Peptide Label: isoform X12
RefSeq Acc Id: XP_054174685   ⟸   XM_054318710
- Peptide Label: isoform X14
RefSeq Acc Id: XP_054174679   ⟸   XM_054318704
- Peptide Label: isoform X8
RefSeq Acc Id: XP_054174675   ⟸   XM_054318700
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054174682   ⟸   XM_054318707
- Peptide Label: isoform X11
RefSeq Acc Id: XP_054174680   ⟸   XM_054318705
- Peptide Label: isoform X9
RefSeq Acc Id: XP_054174673   ⟸   XM_054318698
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054174681   ⟸   XM_054318706
- Peptide Label: isoform X10
RefSeq Acc Id: XP_054174674   ⟸   XM_054318699
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054174684   ⟸   XM_054318709
- Peptide Label: isoform X13
RefSeq Acc Id: XP_054174677   ⟸   XM_054318702
- Peptide Label: isoform X6
RefSeq Acc Id: XP_054174672   ⟸   XM_054318697
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054174686   ⟸   XM_054318711
- Peptide Label: isoform X17
RefSeq Acc Id: XP_054174676   ⟸   XM_054318701
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054174678   ⟸   XM_054318703
- Peptide Label: isoform X7
RefSeq Acc Id: XP_054174688   ⟸   XM_054318713
- Peptide Label: isoform X16
RefSeq Acc Id: XP_054174683   ⟸   XM_054318708
- Peptide Label: isoform X12
RefSeq Acc Id: XP_054174687   ⟸   XM_054318712
- Peptide Label: isoform X15

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q7RTS9-F1-model_v2 AlphaFold Q7RTS9 1-669 view protein structure

Promoters
RGD ID:6794815
Promoter ID:HG_KWN:28000
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_017653
Position:
Human AssemblyChrPosition (strand)Source
Build 361845,240,781 - 45,241,281 (-)MPROMDB
RGD ID:7237293
Promoter ID:EPDNEW_H24393
Type:multiple initiation site
Name:DYM_2
Description:dymeclin
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H24394  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381849,258,436 - 49,258,496EPDNEW
RGD ID:7237299
Promoter ID:EPDNEW_H24394
Type:initiation region
Name:DYM_1
Description:dymeclin
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H24393  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381849,460,645 - 49,460,705EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:21317 AgrOrtholog
COSMIC DYM COSMIC
Ensembl Genes ENSG00000141627 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000269445 ENTREZGENE
  ENST00000269445.10 UniProtKB/Swiss-Prot
  ENST00000442713 ENTREZGENE
  ENST00000442713.6 UniProtKB/Swiss-Prot
  ENST00000675505 ENTREZGENE
GTEx ENSG00000141627 GTEx
HGNC ID HGNC:21317 ENTREZGENE
Human Proteome Map DYM Human Proteome Map
InterPro Dymeclin UniProtKB/Swiss-Prot
KEGG Report hsa:54808 UniProtKB/Swiss-Prot
NCBI Gene 54808 ENTREZGENE
OMIM 607461 OMIM
PANTHER DYMECLIN UniProtKB/Swiss-Prot
  PTHR12895 UniProtKB/Swiss-Prot
Pfam Dymeclin UniProtKB/Swiss-Prot
PharmGKB PA134879547 PharmGKB
UniProt A0A6Q8PF81 ENTREZGENE, UniProtKB/TrEMBL
  A5XEI3_HUMAN UniProtKB/TrEMBL
  A8K5I8 ENTREZGENE
  B2RCF9 ENTREZGENE
  B4DKI7 ENTREZGENE
  DYM_HUMAN UniProtKB/Swiss-Prot
  E9PG80_HUMAN UniProtKB/TrEMBL
  J3KRG4_HUMAN UniProtKB/TrEMBL
  J3KSF9_HUMAN UniProtKB/TrEMBL
  J3KTF2_HUMAN UniProtKB/TrEMBL
  J3QQT7_HUMAN UniProtKB/TrEMBL
  J3QR81_HUMAN UniProtKB/TrEMBL
  J3QRD8_HUMAN UniProtKB/TrEMBL
  J3QRF2_HUMAN UniProtKB/TrEMBL
  J3QSE7_HUMAN UniProtKB/TrEMBL
  Q3ZTS8 ENTREZGENE
  Q6P2P5 ENTREZGENE
  Q7RTS9 ENTREZGENE
  Q8N2M0 ENTREZGENE
  Q9BVE9 ENTREZGENE
  Q9NPU7 ENTREZGENE
  Q9NXS9_HUMAN UniProtKB/TrEMBL
UniProt Secondary A8K5I8 UniProtKB/Swiss-Prot
  B2RCF9 UniProtKB/Swiss-Prot
  B4DKI7 UniProtKB/Swiss-Prot
  Q3ZTS8 UniProtKB/Swiss-Prot
  Q6P2P5 UniProtKB/Swiss-Prot
  Q8N2M0 UniProtKB/Swiss-Prot
  Q9BVE9 UniProtKB/Swiss-Prot
  Q9NPU7 UniProtKB/Swiss-Prot