LEMD3 (LEM domain containing 3) - Rat Genome Database

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Pathways
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Gene: LEMD3 (LEM domain containing 3) Homo sapiens
Analyze
Symbol: LEMD3
Name: LEM domain containing 3
RGD ID: 1343559
HGNC Page HGNC:28887
Description: Predicted to enable U1 snRNP binding activity. Involved in negative regulation of BMP signaling pathway; negative regulation of activin receptor signaling pathway; and negative regulation of transforming growth factor beta receptor signaling pathway. Located in nuclear inner membrane. Implicated in Buschke-Ollendorff syndrome.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: inner nuclear membrane protein Man1; integral inner nuclear membrane protein; LEM domain-containing protein 3; LEMD3/MKX fusion; MAN antigen 1; MAN1
RGD Orthologs
Mouse
Rat
Bonobo
Dog
Squirrel
Pig
Green Monkey
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381265,169,583 - 65,248,355 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1265,169,583 - 65,248,355 (+)EnsemblGRCh38hg38GRCh38
GRCh371265,563,363 - 65,642,135 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361263,849,638 - 63,928,374 (+)NCBINCBI36Build 36hg18NCBI36
Build 341263,849,637 - 63,928,374NCBI
Celera1265,228,844 - 65,307,664 (+)NCBICelera
Cytogenetic Map12q14.3NCBI
HuRef1262,615,007 - 62,693,876 (+)NCBIHuRef
CHM1_11265,530,362 - 65,609,142 (+)NCBICHM1_1
T2T-CHM13v2.01265,148,505 - 65,227,374 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


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

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal bone ossification  (IAGP)
Abnormal cortical bone morphology  (IAGP)
Abnormal femur morphology  (IAGP)
Abnormal heart morphology  (IAGP)
Abnormal long bone morphology  (IAGP)
Abnormal nostril morphology  (IAGP)
Abnormal pelvis bone morphology  (IAGP)
Abnormal pelvis bone ossification  (IAGP)
Abnormality of limb bone  (IAGP)
Abnormality of the endocrine system  (IAGP)
Abnormality of the kidney  (IAGP)
Abnormality of the skin  (IAGP)
Abnormality of the spleen  (IAGP)
Abnormally ossified vertebrae  (IAGP)
Addictive alcohol use  (IAGP)
Ankle pain  (IAGP)
Arthralgia  (IAGP)
Autoimmunity  (IAGP)
Autosomal dominant inheritance  (IAGP)
Bone pain  (IAGP)
Cerebral arteriovenous malformation  (IAGP)
Chiari malformation  (IAGP)
Cleft palate  (IAGP)
Clinodactyly of the 5th finger  (IAGP)
Complete duplication of the distal phalanges of the hand  (IAGP)
Congenital onset  (IAGP)
Connective tissue nevi  (IAGP)
Dacryocystitis  (IAGP)
Deeply set eye  (IAGP)
Delayed speech and language development  (IAGP)
Diabetes mellitus  (IAGP)
Discoid lupus rash  (IAGP)
Downturned corners of mouth  (IAGP)
Ectopic kidney  (IAGP)
Epidermal nevus  (IAGP)
Episodic pain  (IAGP)
Failure to thrive  (IAGP)
Flexion contracture  (IAGP)
Frontal bossing  (IAGP)
Global developmental delay  (IAGP)
Hip pain  (IAGP)
Hoarse voice  (IAGP)
Horseshoe kidney  (IAGP)
Hyperostosis  (IAGP)
Hyperpigmentation of the skin  (IAGP)
Hypertelorism  (IAGP)
Hypertension  (IAGP)
Hypodontia  (IAGP)
Hypotonia  (IAGP)
Increased bone mineral density  (IAGP)
Intellectual disability, mild  (IAGP)
Intestinal malrotation  (IAGP)
Intrauterine growth retardation  (IAGP)
Joint stiffness  (IAGP)
Keloids  (IAGP)
Limitation of joint mobility  (IAGP)
Lower limb asymmetry  (IAGP)
Microcephaly  (IAGP)
Micrognathia  (IAGP)
Multiple lipomas  (IAGP)
Neurodevelopmental delay  (IAGP)
Nevus  (IAGP)
Osteopoikilosis  (IAGP)
Prominent nasal bridge  (IAGP)
Renal hypoplasia  (IAGP)
Scleroderma  (IAGP)
Sclerosis of foot bone  (IAGP)
Sclerotic foci in hand bones  (IAGP)
Sclerotic foci within carpal bones  (IAGP)
Sclerotic scapulae  (IAGP)
Scoliosis  (IAGP)
Short stature  (IAGP)
Skeletal muscle atrophy  (IAGP)
Specific learning disability  (IAGP)
Subcutaneous nodule  (IAGP)
Syndactyly  (IAGP)
Synophrys  (IAGP)
Syringomyelia  (IAGP)
Tarsal sclerosis  (IAGP)
Thick eyebrow  (IAGP)
Thin vermilion border  (IAGP)
Tremor  (IAGP)
Triangular face  (IAGP)
Wide nose  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Familial cutaneous collagenomas resulting from a novel mutation in LEMD3. Hershkovitz D, etal., Br J Dermatol. 2007 Feb;156(2):375-7.
3. Buschke-Ollendorff syndrome associated with hypertrophic scar formation: a possible role for LEMD3 mutation. Korekawa A, etal., Br J Dermatol. 2012 Apr;166(4):900-3. doi: 10.1111/j.1365-2133.2011.10691.x. Epub 2012 Jan 9.
4. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
5. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
6. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
7. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
8. Buschke-Ollendorff syndrome: absence of LEMD3 mutation in an affected family. Yadegari M, etal., Arch Dermatol. 2010 Jan;146(1):63-8. doi: 10.1001/archdermatol.2009.320.
9. Buschke-Ollendorff syndrome with striking phenotypic variation resulting from a novel c.2203C>T nonsense mutation in LEMD3. Yuste-Chaves M, etal., Pediatr Dermatol. 2011 Jul-Aug;28(4):447-50. doi: 10.1111/j.1525-1470.2010.01206.x. Epub 2010 Jul 29.
10. Novel and recurrent germline LEMD3 mutations causing Buschke-Ollendorff syndrome and osteopoikilosis but not isolated melorheostosis. Zhang Y, etal., Clin Genet. 2009 Jun;75(6):556-61. doi: 10.1111/j.1399-0004.2009.01177.x. Epub 2009 May 5.
Additional References at PubMed
PMID:10671519   PMID:11896184   PMID:15231748   PMID:15489854   PMID:15601644   PMID:15647271   PMID:15681850   PMID:16470551   PMID:16648637   PMID:17081983   PMID:17087626   PMID:17505164  
PMID:17622481   PMID:18729074   PMID:19917253   PMID:20360068   PMID:20618940   PMID:20732851   PMID:21873635   PMID:21966431   PMID:22412018   PMID:22939629   PMID:23779087   PMID:24407287  
PMID:24927568   PMID:24981860   PMID:25182847   PMID:25281560   PMID:25921289   PMID:26135202   PMID:26186194   PMID:26496610   PMID:26638075   PMID:26687479   PMID:26694706   PMID:26711937  
PMID:26777405   PMID:26972000   PMID:27703004   PMID:27880917   PMID:28449239   PMID:28514442   PMID:28675297   PMID:28692057   PMID:29117863   PMID:29180619   PMID:29395067   PMID:29465813  
PMID:29507755   PMID:29509190   PMID:29568061   PMID:30022168   PMID:30108174   PMID:30194290   PMID:30196744   PMID:30321401   PMID:30639242   PMID:30804502   PMID:31056421   PMID:31073040  
PMID:31091453   PMID:31129707   PMID:31177093   PMID:31527615   PMID:31732153   PMID:31871319   PMID:31980649   PMID:32296183   PMID:32344865   PMID:32788342   PMID:32877691   PMID:33106477  
PMID:33766124   PMID:33845483   PMID:33957083   PMID:33961781   PMID:34011540   PMID:34079125   PMID:34226595   PMID:34244565   PMID:34315543   PMID:34432599   PMID:34597346   PMID:34672954  
PMID:34702444   PMID:34709727   PMID:35007762   PMID:35198878   PMID:35271311   PMID:35384245   PMID:35696571   PMID:35831314   PMID:35844135   PMID:35944360   PMID:35993436   PMID:36215168  
PMID:36237976   PMID:36373674   PMID:36398662   PMID:36543142   PMID:36857408   PMID:37232246   PMID:37774976   PMID:37827155   PMID:37931956   PMID:38117590  


Genomics

Comparative Map Data
LEMD3
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381265,169,583 - 65,248,355 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1265,169,583 - 65,248,355 (+)EnsemblGRCh38hg38GRCh38
GRCh371265,563,363 - 65,642,135 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361263,849,638 - 63,928,374 (+)NCBINCBI36Build 36hg18NCBI36
Build 341263,849,637 - 63,928,374NCBI
Celera1265,228,844 - 65,307,664 (+)NCBICelera
Cytogenetic Map12q14.3NCBI
HuRef1262,615,007 - 62,693,876 (+)NCBIHuRef
CHM1_11265,530,362 - 65,609,142 (+)NCBICHM1_1
T2T-CHM13v2.01265,148,505 - 65,227,374 (+)NCBIT2T-CHM13v2.0
Lemd3
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm3910120,759,316 - 120,815,491 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl10120,759,318 - 120,815,237 (-)EnsemblGRCm39 Ensembl
GRCm3810120,923,411 - 120,979,396 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl10120,923,413 - 120,979,332 (-)EnsemblGRCm38mm10GRCm38
MGSCv3710120,360,467 - 120,416,386 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv3610120,326,471 - 120,382,392 (-)NCBIMGSCv36mm8
Celera10123,286,658 - 123,342,549 (-)NCBICelera
Cytogenetic Map10D2NCBI
cM Map1068.88NCBI
Lemd3
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8758,300,556 - 58,389,485 (-)NCBIGRCr8
mRatBN7.2756,415,053 - 56,499,047 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl756,305,448 - 56,502,474 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx758,356,363 - 58,404,803 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0760,559,575 - 60,608,007 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0760,336,954 - 60,385,385 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0762,976,671 - 63,045,860 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl762,996,336 - 63,045,728 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0762,960,779 - 63,032,159 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4760,232,118 - 60,281,459 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera753,196,837 - 53,246,156 (-)NCBICelera
Cytogenetic Map7q22NCBI
LEMD3
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21029,113,605 - 29,192,854 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11229,110,380 - 29,189,624 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01223,668,368 - 23,747,369 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11224,172,749 - 24,251,533 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1224,172,749 - 24,252,314 (-)Ensemblpanpan1.1panPan2
LEMD3
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1107,775,995 - 7,833,895 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl107,777,946 - 7,834,107 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha107,711,419 - 7,784,249 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0107,887,012 - 7,959,867 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl107,887,036 - 7,945,358 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1107,763,790 - 7,836,639 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0108,003,513 - 8,063,233 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0108,135,524 - 8,208,304 (+)NCBIUU_Cfam_GSD_1.0
Lemd3
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494550,656,254 - 50,724,268 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365453,385,062 - 3,454,243 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365453,385,821 - 3,453,861 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
LEMD3
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl529,596,334 - 29,673,875 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1529,596,334 - 29,672,704 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2532,770,399 - 32,896,622 (+)NCBISscrofa10.2Sscrofa10.2susScr3
LEMD3
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11160,861,671 - 60,945,858 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1160,862,265 - 60,946,040 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666037184,811,579 - 184,892,026 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0

Variants

.
Variants in LEMD3
566 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_014319.5(LEMD3):c.457C>T (p.Gln153Ter) single nucleotide variant Osteopoikilosis [RCV000002877] Chr12:65170053 [GRCh38]
Chr12:65563833 [GRCh37]
Chr12:12q14.3		 pathogenic
NM_014319.5(LEMD3):c.1033_1035delinsC (p.Gly345fs) indel Dermatofibrosis lenticularis disseminata [RCV000002878] Chr12:65170629..65170631 [GRCh38]
Chr12:65564409..65564411 [GRCh37]
Chr12:12q14.3		 pathogenic
NM_014319.5(LEMD3):c.1035dup (p.Cys346fs) duplication Dermatofibrosis lenticularis disseminata [RCV000002879] Chr12:65170628..65170629 [GRCh38]
Chr12:65564408..65564409 [GRCh37]
Chr12:12q14.3		 pathogenic
NM_014319.5(LEMD3):c.1609C>T (p.Arg537Ter) single nucleotide variant Melorheostosis with osteopoikilosis [RCV000002880]|not provided [RCV001851593] Chr12:65216025 [GRCh38]
Chr12:65609805 [GRCh37]
Chr12:12q14.3		 pathogenic
LEMD3, 1941+5delG deletion Osteopoikilosis [RCV000002881] Chr12:12q14 pathogenic
NM_014319.5(LEMD3):c.2154dup (p.Ala719fs) duplication Dermatofibrosis lenticularis disseminata [RCV000002882]|Osteopoikilosis [RCV000002883] Chr12:65240935..65240936 [GRCh38]
Chr12:65634715..65634716 [GRCh37]
Chr12:12q14.3		 pathogenic
NM_014319.5(LEMD3):c.1522+1G>A single nucleotide variant Dermatofibrosis lenticularis disseminata, isolated [RCV000002887] Chr12:65171119 [GRCh38]
Chr12:65564899 [GRCh37]
Chr12:12q14.3		 pathogenic
NM_014319.5(LEMD3):c.240_263del (p.Pro81_Gly88del) deletion Dermatofibrosis lenticularis disseminata [RCV002493314]|LEMD3-related condition [RCV003928221]|OSTEOPOIKILOSIS WITH OR WITHOUT MELORHEOSTOSIS [RCV001194667]|not provided [RCV000879855]|not specified [RCV000729389] Chr12:65169828..65169851 [GRCh38]
Chr12:65563608..65563631 [GRCh37]
Chr12:12q14.3		 pathogenic|likely benign
NM_014319.5(LEMD3):c.2564G>A (p.Trp855Ter) single nucleotide variant Dermatofibrosis lenticularis disseminata [RCV000002884] Chr12:65245931 [GRCh38]
Chr12:65639711 [GRCh37]
Chr12:12q14.3		 pathogenic
NM_014319.5(LEMD3):c.1963C>T (p.Arg655Ter) single nucleotide variant Dermatofibrosis lenticularis disseminata, isolated [RCV000002886]|Melorheostosis with osteopoikilosis [RCV000002885]|not provided [RCV002512686] Chr12:65239970 [GRCh38]
Chr12:65633750 [GRCh37]
Chr12:12q14.3		 pathogenic
GRCh38/hg38 12q14.2-15(chr12:64368308-69123358)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052815]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052815]|See cases [RCV000052815] Chr12:64368308..69123358 [GRCh38]
Chr12:64762088..69517138 [GRCh37]
Chr12:63048355..67803405 [NCBI36]
Chr12:12q14.2-15		 pathogenic
GRCh38/hg38 12q14.1-14.3(chr12:60907151-66568077)x1 copy number loss See cases [RCV000138985] Chr12:60907151..66568077 [GRCh38]
Chr12:61300932..66961857 [GRCh37]
Chr12:59587199..65248124 [NCBI36]
Chr12:12q14.1-14.3		 pathogenic
GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3 copy number gain See cases [RCV000139555] Chr12:121271..133196807 [GRCh38]
Chr12:282465..133773393 [GRCh37]
Chr12:100698..132283466 [NCBI36]
Chr12:12p13.33-q24.33		 pathogenic
NM_014319.5(LEMD3):c.907G>T (p.Gly303Cys) single nucleotide variant Dermatofibrosis lenticularis disseminata [RCV000406278]|not provided [RCV000906602]|not specified [RCV000260227] Chr12:65170503 [GRCh38]
Chr12:65564283 [GRCh37]
Chr12:12q14.3		 likely benign|uncertain significance
NM_014319.5(LEMD3):c.282C>G (p.Val94=) single nucleotide variant Dermatofibrosis lenticularis disseminata [RCV000276950]|not provided [RCV000356248] Chr12:65169878 [GRCh38]
Chr12:65563658 [GRCh37]
Chr12:12q14.3		 conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3 copy number gain See cases [RCV000258805] Chr12:1..133851895 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic|likely pathogenic
NM_014319.5(LEMD3):c.1560+10C>T single nucleotide variant Dermatofibrosis lenticularis disseminata [RCV000313204]|not provided [RCV000911684]|not specified [RCV000260761] Chr12:65210973 [GRCh38]
Chr12:65604753 [GRCh37]
Chr12:12q14.3		 benign|likely benign
NM_014319.5(LEMD3):c.898A>T (p.Lys300Ter) single nucleotide variant not provided [RCV000522344] Chr12:65170494 [GRCh38]
Chr12:65564274 [GRCh37]
Chr12:12q14.3		 likely pathogenic
NM_014319.5(LEMD3):c.*895T>C single nucleotide variant Dermatofibrosis lenticularis disseminata [RCV000299967] Chr12:65247220 [GRCh38]
Chr12:65641000 [GRCh37]
Chr12:12q14.3		 benign|likely benign
NM_014319.5(LEMD3):c.1695+8A>G single nucleotide variant Dermatofibrosis lenticularis disseminata [RCV000300317]|not provided [RCV001516225] Chr12:65218627 [GRCh38]
Chr12:65612407 [GRCh37]
Chr12:12q14.3		 benign|likely benign
NM_014319.5(LEMD3):c.1154C>G (p.Ser385Cys) single nucleotide variant Dermatofibrosis lenticularis disseminata [RCV000371307] Chr12:65170750 [GRCh38]
Chr12:65564530 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.750C>T (p.Val250=) single nucleotide variant Dermatofibrosis lenticularis disseminata [RCV000285926] Chr12:65170346 [GRCh38]
Chr12:65564126 [GRCh37]
Chr12:12q14.3		 likely benign|uncertain significance
NM_014319.5(LEMD3):c.*1880C>T single nucleotide variant Dermatofibrosis lenticularis disseminata [RCV000270294] Chr12:65248205 [GRCh38]
Chr12:65641985 [GRCh37]
Chr12:12q14.3		 benign
NM_014319.5(LEMD3):c.*146A>G single nucleotide variant Dermatofibrosis lenticularis disseminata [RCV000328486] Chr12:65246471 [GRCh38]
Chr12:65640251 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.*476C>T single nucleotide variant Dermatofibrosis lenticularis disseminata [RCV000288778] Chr12:65246801 [GRCh38]
Chr12:65640581 [GRCh37]
Chr12:12q14.3		 benign|likely benign
NM_014319.5(LEMD3):c.*1481C>T single nucleotide variant Dermatofibrosis lenticularis disseminata [RCV000271315] Chr12:65247806 [GRCh38]
Chr12:65641586 [GRCh37]
Chr12:12q14.3		 benign|uncertain significance
NM_014319.5(LEMD3):c.948C>T (p.Leu316=) single nucleotide variant Dermatofibrosis lenticularis disseminata [RCV000291631]|not provided [RCV000972081] Chr12:65170544 [GRCh38]
Chr12:65564324 [GRCh37]
Chr12:12q14.3		 benign|likely benign
NM_014319.5(LEMD3):c.1720A>G (p.Ile574Val) single nucleotide variant Dermatofibrosis lenticularis disseminata [RCV000260286]|not provided [RCV001859857] Chr12:65238526 [GRCh38]
Chr12:65632306 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.*688T>C single nucleotide variant Dermatofibrosis lenticularis disseminata [RCV000296498] Chr12:65247013 [GRCh38]
Chr12:65640793 [GRCh37]
Chr12:12q14.3		 benign|likely benign
NM_014319.5(LEMD3):c.*1951C>T single nucleotide variant Dermatofibrosis lenticularis disseminata [RCV000388865] Chr12:65248276 [GRCh38]
Chr12:65642056 [GRCh37]
Chr12:12q14.3		 benign|likely benign
NM_014319.5(LEMD3):c.618G>A (p.Glu206=) single nucleotide variant Dermatofibrosis lenticularis disseminata [RCV000279471]|not provided [RCV002520829] Chr12:65170214 [GRCh38]
Chr12:65563994 [GRCh37]
Chr12:12q14.3		 likely benign|uncertain significance
NM_014319.5(LEMD3):c.1628-11A>C single nucleotide variant Dermatofibrosis lenticularis disseminata [RCV000263884]|not provided [RCV001672479] Chr12:65218541 [GRCh38]
Chr12:65612321 [GRCh37]
Chr12:12q14.3		 benign|likely benign
NM_014319.5(LEMD3):c.2658G>A (p.Lys886=) single nucleotide variant Dermatofibrosis lenticularis disseminata [RCV000264051]|not provided [RCV000967278] Chr12:65246247 [GRCh38]
Chr12:65640027 [GRCh37]
Chr12:12q14.3		 benign|likely benign
NM_014319.5(LEMD3):c.*576A>G single nucleotide variant Dermatofibrosis lenticularis disseminata [RCV000343825] Chr12:65246901 [GRCh38]
Chr12:65640681 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.345A>G (p.Pro115=) single nucleotide variant Dermatofibrosis lenticularis disseminata [RCV000367921]|not provided [RCV002056328] Chr12:65169941 [GRCh38]
Chr12:65563721 [GRCh37]
Chr12:12q14.3		 likely benign|uncertain significance
NM_014319.5(LEMD3):c.*915G>T single nucleotide variant Dermatofibrosis lenticularis disseminata [RCV000393206] Chr12:65247240 [GRCh38]
Chr12:65641020 [GRCh37]
Chr12:12q14.3		 benign|likely benign
NM_014319.5(LEMD3):c.1523-12C>T single nucleotide variant Dermatofibrosis lenticularis disseminata [RCV000395108]|not provided [RCV001690029] Chr12:65210914 [GRCh38]
Chr12:65604694 [GRCh37]
Chr12:12q14.3		 benign|likely benign
NM_014319.5(LEMD3):c.1063C>T (p.Pro355Ser) single nucleotide variant Dermatofibrosis lenticularis disseminata [RCV000395117]|Inborn genetic diseases [RCV002520830]|not provided [RCV002056329] Chr12:65170659 [GRCh38]
Chr12:65564439 [GRCh37]
Chr12:12q14.3		 likely benign|uncertain significance
NM_014319.5(LEMD3):c.2494-9A>G single nucleotide variant not provided [RCV000276920] Chr12:65245852 [GRCh38]
Chr12:65639632 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.1746C>T (p.Ile582=) single nucleotide variant not provided [RCV000921597]|not specified [RCV000384058] Chr12:65238552 [GRCh38]
Chr12:65632332 [GRCh37]
Chr12:12q14.3		 benign|likely benign
NM_014319.5(LEMD3):c.349A>G (p.Ser117Gly) single nucleotide variant Dermatofibrosis lenticularis disseminata [RCV000273452]|not provided [RCV001859855] Chr12:65169945 [GRCh38]
Chr12:65563725 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.1075G>A (p.Val359Ile) single nucleotide variant Dermatofibrosis lenticularis disseminata [RCV000306916]|not provided [RCV000977294] Chr12:65170671 [GRCh38]
Chr12:65564451 [GRCh37]
Chr12:12q14.3		 likely benign|uncertain significance
NM_014319.5(LEMD3):c.-6G>A single nucleotide variant Dermatofibrosis lenticularis disseminata [RCV000307879] Chr12:65169591 [GRCh38]
Chr12:65563371 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.*1635G>A single nucleotide variant Dermatofibrosis lenticularis disseminata [RCV000328948] Chr12:65247960 [GRCh38]
Chr12:65641740 [GRCh37]
Chr12:12q14.3		 benign|likely benign
NM_014319.5(LEMD3):c.2573-13T>G single nucleotide variant Dermatofibrosis lenticularis disseminata [RCV000377316]|not provided [RCV002056330] Chr12:65246149 [GRCh38]
Chr12:65639929 [GRCh37]
Chr12:12q14.3		 likely benign|uncertain significance
NM_014319.5(LEMD3):c.336C>T (p.Ala112=) single nucleotide variant Dermatofibrosis lenticularis disseminata [RCV000332026]|not provided [RCV001513962]|not specified [RCV000595761] Chr12:65169932 [GRCh38]
Chr12:65563712 [GRCh37]
Chr12:12q14.3		 benign|likely benign
NM_014319.5(LEMD3):c.292C>T (p.Leu98Phe) single nucleotide variant not provided [RCV000319423] Chr12:65169888 [GRCh38]
Chr12:65563668 [GRCh37]
Chr12:12q14.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_014319.5(LEMD3):c.*1901G>A single nucleotide variant Dermatofibrosis lenticularis disseminata [RCV000332401] Chr12:65248226 [GRCh38]
Chr12:65642006 [GRCh37]
Chr12:12q14.3		 benign|likely benign
NM_014319.5(LEMD3):c.1705C>T (p.Pro569Ser) single nucleotide variant Dermatofibrosis lenticularis disseminata [RCV000355094]|not provided [RCV001850638] Chr12:65238511 [GRCh38]
Chr12:65632291 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.*884A>G single nucleotide variant Dermatofibrosis lenticularis disseminata [RCV000406217] Chr12:65247209 [GRCh38]
Chr12:65640989 [GRCh37]
Chr12:12q14.3		 benign|likely benign
NM_014319.5(LEMD3):c.*225A>G single nucleotide variant Dermatofibrosis lenticularis disseminata [RCV000383175] Chr12:65246550 [GRCh38]
Chr12:65640330 [GRCh37]
Chr12:12q14.3		 benign|uncertain significance
NM_014319.5(LEMD3):c.2388-7C>T single nucleotide variant not provided [RCV000881699]|not specified [RCV000260912] Chr12:65245662 [GRCh38]
Chr12:65639442 [GRCh37]
Chr12:12q14.3		 benign|likely benign
NM_014319.5(LEMD3):c.*1156G>A single nucleotide variant Dermatofibrosis lenticularis disseminata [RCV000360478] Chr12:65247481 [GRCh38]
Chr12:65641261 [GRCh37]
Chr12:12q14.3		 benign|likely benign
NM_014319.5(LEMD3):c.640G>T (p.Asp214Tyr) single nucleotide variant Dermatofibrosis lenticularis disseminata [RCV000315873]|not provided [RCV001859856] Chr12:65170236 [GRCh38]
Chr12:65564016 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.*902G>A single nucleotide variant Dermatofibrosis lenticularis disseminata [RCV000338439] Chr12:65247227 [GRCh38]
Chr12:65641007 [GRCh37]
Chr12:12q14.3		 benign|likely benign
NM_014319.5(LEMD3):c.*1295G>A single nucleotide variant Dermatofibrosis lenticularis disseminata [RCV000267923] Chr12:65247620 [GRCh38]
Chr12:65641400 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.*655C>T single nucleotide variant Dermatofibrosis lenticularis disseminata [RCV000389066] Chr12:65246980 [GRCh38]
Chr12:65640760 [GRCh37]
Chr12:12q14.3		 benign|likely benign
NM_014319.5(LEMD3):c.378C>T (p.Ser126=) single nucleotide variant Dermatofibrosis lenticularis disseminata [RCV000319267]|not provided [RCV001516224] Chr12:65169974 [GRCh38]
Chr12:65563754 [GRCh37]
Chr12:12q14.3		 benign|likely benign
NM_014319.5(LEMD3):c.882C>T (p.Leu294=) single nucleotide variant Dermatofibrosis lenticularis disseminata [RCV000340834]|not provided [RCV002522248] Chr12:65170478 [GRCh38]
Chr12:65564258 [GRCh37]
Chr12:12q14.3		 likely benign|uncertain significance
NM_014319.5(LEMD3):c.862C>G (p.Arg288Gly) single nucleotide variant LEMD3-related condition [RCV003947837]|not provided [RCV000301712] Chr12:65170458 [GRCh38]
Chr12:65564238 [GRCh37]
Chr12:12q14.3		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_014319.5(LEMD3):c.13G>A (p.Ala5Thr) single nucleotide variant not provided [RCV000302776] Chr12:65169609 [GRCh38]
Chr12:65563389 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.86G>C (p.Gly29Ala) single nucleotide variant Dermatofibrosis lenticularis disseminata [RCV000362542]|not provided [RCV001859854] Chr12:65169682 [GRCh38]
Chr12:65563462 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.673G>C (p.Glu225Gln) single nucleotide variant Dermatofibrosis lenticularis disseminata [RCV000380367]|not provided [RCV002522247] Chr12:65170269 [GRCh38]
Chr12:65564049 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.*1759G>T single nucleotide variant Dermatofibrosis lenticularis disseminata [RCV000381201] Chr12:65248084 [GRCh38]
Chr12:65641864 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.1027G>A (p.Gly343Arg) single nucleotide variant Dermatofibrosis lenticularis disseminata [RCV000346575] Chr12:65170623 [GRCh38]
Chr12:65564403 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.*790G>C single nucleotide variant Dermatofibrosis lenticularis disseminata [RCV000349070] Chr12:65247115 [GRCh38]
Chr12:65640895 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.1627+12_1627+14del deletion Dermatofibrosis lenticularis disseminata [RCV000367910] Chr12:65216055..65216057 [GRCh38]
Chr12:65609835..65609837 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.636G>A (p.Gly212=) single nucleotide variant not provided [RCV000597530] Chr12:65170232 [GRCh38]
Chr12:65564012 [GRCh37]
Chr12:12q14.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_014319.5(LEMD3):c.1813A>G (p.Ile605Val) single nucleotide variant Dermatofibrosis lenticularis disseminata [RCV000322674] Chr12:65238706 [GRCh38]
Chr12:65632486 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.*1141A>G single nucleotide variant Dermatofibrosis lenticularis disseminata [RCV000298737] Chr12:65247466 [GRCh38]
Chr12:65641246 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.380C>T (p.Ala127Val) single nucleotide variant Dermatofibrosis lenticularis disseminata [RCV000373890]|not provided [RCV001850637] Chr12:65169976 [GRCh38]
Chr12:65563756 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.*1389G>T single nucleotide variant Dermatofibrosis lenticularis disseminata [RCV000359204] Chr12:65247714 [GRCh38]
Chr12:65641494 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.*1305T>G single nucleotide variant Dermatofibrosis lenticularis disseminata [RCV000302013] Chr12:65247630 [GRCh38]
Chr12:65641410 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.2094T>G (p.His698Gln) single nucleotide variant Dermatofibrosis lenticularis disseminata [RCV000723276] Chr12:65240206 [GRCh38]
Chr12:65633986 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.2639C>G (p.Thr880Ser) single nucleotide variant Cerebral arteriovenous malformation [RCV000656326] Chr12:65246228 [GRCh38]
Chr12:65640008 [GRCh37]
Chr12:12q14.3		 pathogenic
NM_014319.5(LEMD3):c.782_787del (p.Ser261_Glu263delinsTer) deletion not provided [RCV000627403] Chr12:65170378..65170383 [GRCh38]
Chr12:65564158..65564163 [GRCh37]
Chr12:12q14.3		 likely pathogenic
NM_014319.5(LEMD3):c.887C>G (p.Pro296Arg) single nucleotide variant not provided [RCV000733132] Chr12:65170483 [GRCh38]
Chr12:65564263 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.1330C>G (p.Pro444Ala) single nucleotide variant Dermatofibrosis lenticularis disseminata [RCV001113876]|Inborn genetic diseases [RCV002535358]|LEMD3-related condition [RCV003965543]|not provided [RCV000733942] Chr12:65170926 [GRCh38]
Chr12:65564706 [GRCh37]
Chr12:12q14.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 12q14.1-15(chr12:59495114-70574966)x1 copy number loss See cases [RCV000447164] Chr12:59495114..70574966 [GRCh37]
Chr12:12q14.1-15		 pathogenic
NM_014319.5(LEMD3):c.1873C>T (p.Arg625Ter) single nucleotide variant not provided [RCV000431686] Chr12:65238766 [GRCh38]
Chr12:65632546 [GRCh37]
Chr12:12q14.3		 pathogenic
NM_014319.5(LEMD3):c.2007G>A (p.Met669Ile) single nucleotide variant not provided [RCV000433105] Chr12:65240014 [GRCh38]
Chr12:65633794 [GRCh37]
Chr12:12q14.3		 uncertain significance
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3 copy number gain See cases [RCV000510482] Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902) copy number gain See cases [RCV000511643] Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
NM_014319.5(LEMD3):c.2331A>C (p.Ser777=) single nucleotide variant Dermatofibrosis lenticularis disseminata [RCV001110654]|not provided [RCV000902129]|not specified [RCV000596488] Chr12:65243413 [GRCh38]
Chr12:65637193 [GRCh37]
Chr12:12q14.3		 likely benign
GRCh37/hg19 12p13.33-q24.33(chr12:621220-133779118)x3 copy number gain not provided [RCV000750253] Chr12:621220..133779118 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:191619-133777645)x3 copy number gain not provided [RCV000750246] Chr12:191619..133777645 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
GRCh37/hg19 12q14.3(chr12:65507997-65641261)x3 copy number gain not provided [RCV000750441] Chr12:65507997..65641261 [GRCh37]
Chr12:12q14.3		 benign
GRCh37/hg19 12q14.3(chr12:65627911-65641261)x3 copy number gain not provided [RCV000750442] Chr12:65627911..65641261 [GRCh37]
Chr12:12q14.3		 benign
NM_014319.5(LEMD3):c.1801G>T (p.Glu601Ter) single nucleotide variant Dermatofibrosis lenticularis disseminata [RCV000760966]|not provided [RCV003314642] Chr12:65238694 [GRCh38]
Chr12:65632474 [GRCh37]
Chr12:12q14.3		 pathogenic|likely pathogenic
NM_014319.5(LEMD3):c.2371_2372del (p.Met791fs) microsatellite Dermatofibrosis lenticularis disseminata [RCV000761251] Chr12:65243451..65243452 [GRCh38]
Chr12:65637231..65637232 [GRCh37]
Chr12:12q14.3		 likely pathogenic
NM_014319.5(LEMD3):c.2305+112G>T single nucleotide variant not provided [RCV001612781] Chr12:65241199 [GRCh38]
Chr12:65634979 [GRCh37]
Chr12:12q14.3		 benign
NM_014319.5(LEMD3):c.1038T>C (p.Cys346=) single nucleotide variant not provided [RCV000927441] Chr12:65170634 [GRCh38]
Chr12:65564414 [GRCh37]
Chr12:12q14.3		 likely benign
NM_014319.5(LEMD3):c.2721T>C (p.Ser907=) single nucleotide variant not provided [RCV000928095] Chr12:65246310 [GRCh38]
Chr12:65640090 [GRCh37]
Chr12:12q14.3		 likely benign
NM_014319.5(LEMD3):c.1899C>T (p.His633=) single nucleotide variant not provided [RCV000926522] Chr12:65238792 [GRCh38]
Chr12:65632572 [GRCh37]
Chr12:12q14.3		 likely benign
NM_014319.5(LEMD3):c.489T>C (p.Ala163=) single nucleotide variant not provided [RCV000929088] Chr12:65170085 [GRCh38]
Chr12:65563865 [GRCh37]
Chr12:12q14.3		 likely benign
NM_014319.5(LEMD3):c.28C>T (p.Gln10Ter) single nucleotide variant Dermatofibrosis lenticularis disseminata [RCV000779115] Chr12:65169624 [GRCh38]
Chr12:65563404 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.39G>A (p.Ser13=) single nucleotide variant Dermatofibrosis lenticularis disseminata [RCV001109771]|not provided [RCV000908361] Chr12:65169635 [GRCh38]
Chr12:65563415 [GRCh37]
Chr12:12q14.3		 likely benign
NM_014319.5(LEMD3):c.2056G>A (p.Glu686Lys) single nucleotide variant LEMD3-related condition [RCV003968192]|not provided [RCV000896028] Chr12:65240168 [GRCh38]
Chr12:65633948 [GRCh37]
Chr12:12q14.3		 likely benign
NM_014319.5(LEMD3):c.2637C>T (p.Leu879=) single nucleotide variant not provided [RCV000976668] Chr12:65246226 [GRCh38]
Chr12:65640006 [GRCh37]
Chr12:12q14.3		 benign
NM_014319.5(LEMD3):c.1399A>T (p.Ser467Cys) single nucleotide variant not provided [RCV000899289] Chr12:65170995 [GRCh38]
Chr12:65564775 [GRCh37]
Chr12:12q14.3		 likely benign
NM_014319.5(LEMD3):c.777G>A (p.Ser259=) single nucleotide variant not provided [RCV000896589] Chr12:65170373 [GRCh38]
Chr12:65564153 [GRCh37]
Chr12:12q14.3		 likely benign
NM_014319.5(LEMD3):c.1296C>T (p.Ser432=) single nucleotide variant not provided [RCV000907696] Chr12:65170892 [GRCh38]
Chr12:65564672 [GRCh37]
Chr12:12q14.3		 likely benign
NM_014319.5(LEMD3):c.1941C>T (p.Val647=) single nucleotide variant not provided [RCV000905304] Chr12:65239948 [GRCh38]
Chr12:65633728 [GRCh37]
Chr12:12q14.3		 likely benign
NM_014319.5(LEMD3):c.*991A>G single nucleotide variant Dermatofibrosis lenticularis disseminata [RCV001113981] Chr12:65247316 [GRCh38]
Chr12:65641096 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.1556T>G (p.Ile519Arg) single nucleotide variant Dermatofibrosis lenticularis disseminata [RCV001113879] Chr12:65210959 [GRCh38]
Chr12:65604739 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.*899T>C single nucleotide variant Dermatofibrosis lenticularis disseminata [RCV001113980] Chr12:65247224 [GRCh38]
Chr12:65641004 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.785_792dup (p.Asp265fs) duplication not provided [RCV001008503] Chr12:65170378..65170379 [GRCh38]
Chr12:65564158..65564159 [GRCh37]
Chr12:12q14.3		 pathogenic
NM_014319.5(LEMD3):c.29A>T (p.Gln10Leu) single nucleotide variant Dermatofibrosis lenticularis disseminata [RCV001113795] Chr12:65169625 [GRCh38]
Chr12:65563405 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.1058C>G (p.Pro353Arg) single nucleotide variant Dermatofibrosis lenticularis disseminata [RCV001112540]|not provided [RCV003698831] Chr12:65170654 [GRCh38]
Chr12:65564434 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.1101C>T (p.Leu367=) single nucleotide variant Dermatofibrosis lenticularis disseminata [RCV001112542]|not provided [RCV002555089] Chr12:65170697 [GRCh38]
Chr12:65564477 [GRCh37]
Chr12:12q14.3		 likely benign|uncertain significance
NM_014319.5(LEMD3):c.*388G>C single nucleotide variant Dermatofibrosis lenticularis disseminata [RCV001112626] Chr12:65246713 [GRCh38]
Chr12:65640493 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.299A>T (p.Tyr100Phe) single nucleotide variant Dermatofibrosis lenticularis disseminata [RCV001109772]|Inborn genetic diseases [RCV002556148]|not provided [RCV001856466] Chr12:65169895 [GRCh38]
Chr12:65563675 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.*1394C>T single nucleotide variant Dermatofibrosis lenticularis disseminata [RCV001109940] Chr12:65247719 [GRCh38]
Chr12:65641499 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.*1439G>C single nucleotide variant Dermatofibrosis lenticularis disseminata [RCV001109941] Chr12:65247764 [GRCh38]
Chr12:65641544 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.*1455T>C single nucleotide variant Dermatofibrosis lenticularis disseminata [RCV001109942] Chr12:65247780 [GRCh38]
Chr12:65641560 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.2006T>C (p.Met669Thr) single nucleotide variant not provided [RCV003106745] Chr12:65240013 [GRCh38]
Chr12:65633793 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.1628-233G>A single nucleotide variant not provided [RCV001652814] Chr12:65218319 [GRCh38]
Chr12:65612099 [GRCh37]
Chr12:12q14.3		 benign
NM_014319.5(LEMD3):c.2388-45C>T single nucleotide variant not provided [RCV001651431] Chr12:65245624 [GRCh38]
Chr12:65639404 [GRCh37]
Chr12:12q14.3		 benign
NM_014319.5(LEMD3):c.1350A>G (p.Glu450=) single nucleotide variant Dermatofibrosis lenticularis disseminata [RCV001113877]|not provided [RCV000955200] Chr12:65170946 [GRCh38]
Chr12:65564726 [GRCh37]
Chr12:12q14.3		 benign|likely benign
NM_014319.5(LEMD3):c.843T>A (p.Leu281=) single nucleotide variant not provided [RCV000927786] Chr12:65170439 [GRCh38]
Chr12:65564219 [GRCh37]
Chr12:12q14.3		 likely benign
NM_014319.5(LEMD3):c.2463T>G (p.Val821=) single nucleotide variant not provided [RCV000917831] Chr12:65245744 [GRCh38]
Chr12:65639524 [GRCh37]
Chr12:12q14.3		 likely benign
NM_014319.5(LEMD3):c.1893A>G (p.Val631=) single nucleotide variant not provided [RCV000880333] Chr12:65238786 [GRCh38]
Chr12:65632566 [GRCh37]
Chr12:12q14.3		 likely benign
NM_014319.5(LEMD3):c.2195C>T (p.Thr732Met) single nucleotide variant not provided [RCV000977735] Chr12:65240977 [GRCh38]
Chr12:65634757 [GRCh37]
Chr12:12q14.3		 likely benign
NM_014319.5(LEMD3):c.2305+4T>C single nucleotide variant Dermatofibrosis lenticularis disseminata [RCV001110653]|not provided [RCV000886450] Chr12:65241091 [GRCh38]
Chr12:65634871 [GRCh37]
Chr12:12q14.3		 benign
NM_014319.5(LEMD3):c.1205C>T (p.Ser402Phe) single nucleotide variant Dermatofibrosis lenticularis disseminata [RCV001113874]|not provided [RCV001352542] Chr12:65170801 [GRCh38]
Chr12:65564581 [GRCh37]
Chr12:12q14.3		 benign|likely benign|uncertain significance
NM_014319.5(LEMD3):c.2622C>G (p.Arg874=) single nucleotide variant not provided [RCV000934665] Chr12:65246211 [GRCh38]
Chr12:65639991 [GRCh37]
Chr12:12q14.3		 likely benign
NM_014319.5(LEMD3):c.762C>T (p.Cys254=) single nucleotide variant not provided [RCV000913360] Chr12:65170358 [GRCh38]
Chr12:65564138 [GRCh37]
Chr12:12q14.3		 likely benign
NM_014319.5(LEMD3):c.1695+100G>A single nucleotide variant not provided [RCV001689132] Chr12:65218719 [GRCh38]
Chr12:65612499 [GRCh37]
Chr12:12q14.3		 benign
NM_014319.5(LEMD3):c.1722A>G (p.Ile574Met) single nucleotide variant not provided [RCV003106542] Chr12:65238528 [GRCh38]
Chr12:65632308 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.2494-25_2494-22del deletion not provided [RCV001596758] Chr12:65245836..65245839 [GRCh38]
Chr12:65639616..65639619 [GRCh37]
Chr12:12q14.3		 benign
NM_014319.5(LEMD3):c.1695+185dup duplication not provided [RCV001641244] Chr12:65218783..65218784 [GRCh38]
Chr12:65612563..65612564 [GRCh37]
Chr12:12q14.3		 benign
NM_014319.5(LEMD3):c.1696-67A>G single nucleotide variant not provided [RCV001715060] Chr12:65238435 [GRCh38]
Chr12:65632215 [GRCh37]
Chr12:12q14.3		 benign
GRCh37/hg19 12q14.2-14.3(chr12:65029704-65589195)x3 copy number gain not provided [RCV001006509] Chr12:65029704..65589195 [GRCh37]
Chr12:12q14.2-14.3		 uncertain significance
NM_014319.5(LEMD3):c.1586A>G (p.Asn529Ser) single nucleotide variant Dermatofibrosis lenticularis disseminata [RCV001109857]|not provided [RCV003117759] Chr12:65216002 [GRCh38]
Chr12:65609782 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.1631A>C (p.Asp544Ala) single nucleotide variant Dermatofibrosis lenticularis disseminata [RCV001109858]|not provided [RCV001856468] Chr12:65218555 [GRCh38]
Chr12:65612335 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.1099C>T (p.Leu367Phe) single nucleotide variant Dermatofibrosis lenticularis disseminata [RCV001112541]|Inborn genetic diseases [RCV002556198]|not provided [RCV001856488] Chr12:65170695 [GRCh38]
Chr12:65564475 [GRCh37]
Chr12:12q14.3		 likely benign|uncertain significance
NM_014319.5(LEMD3):c.*388G>A single nucleotide variant Dermatofibrosis lenticularis disseminata [RCV001112625] Chr12:65246713 [GRCh38]
Chr12:65640493 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.501C>T (p.Tyr167=) single nucleotide variant Dermatofibrosis lenticularis disseminata [RCV001110563]|not provided [RCV002067805] Chr12:65170097 [GRCh38]
Chr12:65563877 [GRCh37]
Chr12:12q14.3		 likely benign|uncertain significance
NM_014319.5(LEMD3):c.2098C>T (p.Arg700Cys) single nucleotide variant Dermatofibrosis lenticularis disseminata [RCV001110652]|not provided [RCV002556165] Chr12:65240210 [GRCh38]
Chr12:65633990 [GRCh37]
Chr12:12q14.3		 likely benign|uncertain significance
NM_014319.5(LEMD3):c.2586A>G (p.Thr862=) single nucleotide variant Dermatofibrosis lenticularis disseminata [RCV001110655] Chr12:65246175 [GRCh38]
Chr12:65639955 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.2648C>A (p.Thr883Asn) single nucleotide variant Dermatofibrosis lenticularis disseminata [RCV001110656] Chr12:65246237 [GRCh38]
Chr12:65640017 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.*5A>G single nucleotide variant Dermatofibrosis lenticularis disseminata [RCV001110657] Chr12:65246330 [GRCh38]
Chr12:65640110 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.*1925G>T single nucleotide variant Dermatofibrosis lenticularis disseminata [RCV001110729] Chr12:65248250 [GRCh38]
Chr12:65642030 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.1522+103A>G single nucleotide variant not provided [RCV001684540] Chr12:65171221 [GRCh38]
Chr12:65565001 [GRCh37]
Chr12:12q14.3		 benign
NM_014319.5(LEMD3):c.1560+174G>A single nucleotide variant not provided [RCV001611020] Chr12:65211137 [GRCh38]
Chr12:65604917 [GRCh37]
Chr12:12q14.3		 benign
NM_014319.5(LEMD3):c.1108C>A (p.Pro370Thr) single nucleotide variant Dermatofibrosis lenticularis disseminata [RCV001112543]|not provided [RCV001856489] Chr12:65170704 [GRCh38]
Chr12:65564484 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.1700del (p.Asp566_Leu567insTer) deletion Dermatofibrosis lenticularis disseminata [RCV001198702] Chr12:65238504 [GRCh38]
Chr12:65632284 [GRCh37]
Chr12:12q14.3		 pathogenic
NM_014319.5(LEMD3):c.1304C>A (p.Thr435Asn) single nucleotide variant Dermatofibrosis lenticularis disseminata [RCV001113875]|not provided [RCV002556224] Chr12:65170900 [GRCh38]
Chr12:65564680 [GRCh37]
Chr12:12q14.3		 likely benign
NM_014319.5(LEMD3):c.1393A>G (p.Thr465Ala) single nucleotide variant Dermatofibrosis lenticularis disseminata [RCV001113878] Chr12:65170989 [GRCh38]
Chr12:65564769 [GRCh37]
Chr12:12q14.3		 likely benign
NM_014319.5(LEMD3):c.*236G>A single nucleotide variant Dermatofibrosis lenticularis disseminata [RCV001112624] Chr12:65246561 [GRCh38]
Chr12:65640341 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.1777T>C (p.Cys593Arg) single nucleotide variant not provided [RCV001295774] Chr12:65238670 [GRCh38]
Chr12:65632450 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.241C>G (p.Pro81Ala) single nucleotide variant Inborn genetic diseases [RCV002546223]|not provided [RCV001327362] Chr12:65169837 [GRCh38]
Chr12:65563617 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.2696G>A (p.Arg899His) single nucleotide variant not provided [RCV001298686] Chr12:65246285 [GRCh38]
Chr12:65640065 [GRCh37]
Chr12:12q14.3		 uncertain significance
GRCh37/hg19 12q14.3-21.1(chr12:65251705-75263379)x1 copy number loss not provided [RCV001537907] Chr12:65251705..75263379 [GRCh37]
Chr12:12q14.3-21.1		 pathogenic
NM_014319.5(LEMD3):c.49C>T (p.Leu17Phe) single nucleotide variant Inborn genetic diseases [RCV002541945]|not provided [RCV001301309] Chr12:65169645 [GRCh38]
Chr12:65563425 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.1574C>T (p.Thr525Ile) single nucleotide variant not provided [RCV001367876] Chr12:65215990 [GRCh38]
Chr12:65609770 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.56C>T (p.Ser19Phe) single nucleotide variant not provided [RCV001369420] Chr12:65169652 [GRCh38]
Chr12:65563432 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.1154C>T (p.Ser385Phe) single nucleotide variant Inborn genetic diseases [RCV002543811]|not provided [RCV001320828] Chr12:65170750 [GRCh38]
Chr12:65564530 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.2645A>G (p.Asn882Ser) single nucleotide variant not provided [RCV001322391] Chr12:65246234 [GRCh38]
Chr12:65640014 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.2263G>A (p.Asp755Asn) single nucleotide variant Dermatofibrosis lenticularis disseminata [RCV003132439]|Inborn genetic diseases [RCV002547010]|not provided [RCV001344381] Chr12:65241045 [GRCh38]
Chr12:65634825 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.2702G>A (p.Arg901Gln) single nucleotide variant not provided [RCV001304523] Chr12:65246291 [GRCh38]
Chr12:65640071 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.1931T>C (p.Met644Thr) single nucleotide variant not provided [RCV001309302] Chr12:65239938 [GRCh38]
Chr12:65633718 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.2521C>T (p.Pro841Ser) single nucleotide variant not provided [RCV001343338] Chr12:65245888 [GRCh38]
Chr12:65639668 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.546G>A (p.Val182=) single nucleotide variant not provided [RCV001506922] Chr12:65170142 [GRCh38]
Chr12:65563922 [GRCh37]
Chr12:12q14.3		 likely benign
NM_014319.5(LEMD3):c.1103T>C (p.Leu368Pro) single nucleotide variant not provided [RCV001506075] Chr12:65170699 [GRCh38]
Chr12:65564479 [GRCh37]
Chr12:12q14.3		 likely benign
NM_014319.5(LEMD3):c.1922-317A>G single nucleotide variant not provided [RCV001539071] Chr12:65239612 [GRCh38]
Chr12:65633392 [GRCh37]
Chr12:12q14.3		 benign
NM_014319.5(LEMD3):c.2386A>T (p.Met796Leu) single nucleotide variant not provided [RCV001521737] Chr12:65243468 [GRCh38]
Chr12:65637248 [GRCh37]
Chr12:12q14.3		 benign
NM_014319.5(LEMD3):c.817dup (p.Arg273fs) duplication not provided [RCV001385985] Chr12:65170412..65170413 [GRCh38]
Chr12:65564192..65564193 [GRCh37]
Chr12:12q14.3		 pathogenic
NM_014319.5(LEMD3):c.1561-245del deletion not provided [RCV001540058] Chr12:65215725 [GRCh38]
Chr12:65609505 [GRCh37]
Chr12:12q14.3		 benign
NM_014319.5(LEMD3):c.1363C>T (p.Gln455Ter) single nucleotide variant not provided [RCV001380428] Chr12:65170959 [GRCh38]
Chr12:65564739 [GRCh37]
Chr12:12q14.3		 pathogenic
NM_014319.5(LEMD3):c.2203C>T (p.Arg735Ter) single nucleotide variant not provided [RCV001380429] Chr12:65240985 [GRCh38]
Chr12:65634765 [GRCh37]
Chr12:12q14.3		 pathogenic
NM_014319.5(LEMD3):c.934G>T (p.Gly312Ter) single nucleotide variant not provided [RCV001390186] Chr12:65170530 [GRCh38]
Chr12:65564310 [GRCh37]
Chr12:12q14.3		 pathogenic
NM_014319.5(LEMD3):c.1002C>G (p.Leu334=) single nucleotide variant not provided [RCV001419653] Chr12:65170598 [GRCh38]
Chr12:65564378 [GRCh37]
Chr12:12q14.3		 likely benign
NM_014319.5(LEMD3):c.2388-2A>T single nucleotide variant not provided [RCV001377493] Chr12:65245667 [GRCh38]
Chr12:65639447 [GRCh37]
Chr12:12q14.3		 likely pathogenic
NM_014319.5(LEMD3):c.1627+30A>T single nucleotide variant not provided [RCV001710127] Chr12:65216073 [GRCh38]
Chr12:65609853 [GRCh37]
Chr12:12q14.3		 benign
NM_014319.5(LEMD3):c.2388-7del deletion not provided [RCV001477155] Chr12:65245662 [GRCh38]
Chr12:65639442 [GRCh37]
Chr12:12q14.3		 likely benign
NM_014319.5(LEMD3):c.910G>T (p.Gly304Cys) single nucleotide variant not provided [RCV001517899] Chr12:65170506 [GRCh38]
Chr12:65564286 [GRCh37]
Chr12:12q14.3		 benign
NM_014319.5(LEMD3):c.1561-69dup duplication not provided [RCV001674505] Chr12:65215895..65215896 [GRCh38]
Chr12:65609675..65609676 [GRCh37]
Chr12:12q14.3		 benign
NM_014319.5(LEMD3):c.1983G>A (p.Glu661=) single nucleotide variant not provided [RCV001501656] Chr12:65239990 [GRCh38]
Chr12:65633770 [GRCh37]
Chr12:12q14.3		 likely benign
NM_014319.5(LEMD3):c.1107C>G (p.Pro369=) single nucleotide variant not provided [RCV001453158] Chr12:65170703 [GRCh38]
Chr12:65564483 [GRCh37]
Chr12:12q14.3		 likely benign
NM_014319.5(LEMD3):c.2024-2A>G single nucleotide variant Dermatofibrosis lenticularis disseminata [RCV002251692] Chr12:65240134 [GRCh38]
Chr12:65633914 [GRCh37]
Chr12:12q14.3		 pathogenic
NM_014319.5(LEMD3):c.1627+10T>C single nucleotide variant not provided [RCV003108760] Chr12:65216053 [GRCh38]
Chr12:65609833 [GRCh37]
Chr12:12q14.3		 likely benign
NM_014319.5(LEMD3):c.321G>A (p.Leu107=) single nucleotide variant not provided [RCV002967425] Chr12:65169917 [GRCh38]
Chr12:65563697 [GRCh37]
Chr12:12q14.3		 likely benign
NM_014319.5(LEMD3):c.1594_1597del (p.Tyr532fs) microsatellite Dermatofibrosis lenticularis disseminata [RCV001782380] Chr12:65216008..65216011 [GRCh38]
Chr12:65609788..65609791 [GRCh37]
Chr12:12q14.3		 likely pathogenic
NM_014319.5(LEMD3):c.1808_1812del (p.Thr603fs) deletion Dermatofibrosis lenticularis disseminata [RCV001814821]|not provided [RCV001869628] Chr12:65238701..65238705 [GRCh38]
Chr12:65632481..65632485 [GRCh37]
Chr12:12q14.3		 pathogenic|likely pathogenic
NM_014319.5(LEMD3):c.391G>A (p.Ala131Thr) single nucleotide variant not provided [RCV001971542] Chr12:65169987 [GRCh38]
Chr12:65563767 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.268G>C (p.Gly90Arg) single nucleotide variant not provided [RCV001915358] Chr12:65169864 [GRCh38]
Chr12:65563644 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.1048G>A (p.Asp350Asn) single nucleotide variant not provided [RCV001971663] Chr12:65170644 [GRCh38]
Chr12:65564424 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.1942G>A (p.Val648Ile) single nucleotide variant not provided [RCV001970906] Chr12:65239949 [GRCh38]
Chr12:65633729 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.835G>A (p.Asp279Asn) single nucleotide variant not provided [RCV001896078] Chr12:65170431 [GRCh38]
Chr12:65564211 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.2069T>C (p.Leu690Ser) single nucleotide variant not provided [RCV001864014] Chr12:65240181 [GRCh38]
Chr12:65633961 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.2573-3C>G single nucleotide variant not provided [RCV001988524] Chr12:65246159 [GRCh38]
Chr12:65639939 [GRCh37]
Chr12:12q14.3		 likely pathogenic
NM_014319.5(LEMD3):c.163C>G (p.Arg55Gly) single nucleotide variant Inborn genetic diseases [RCV003264285]|not provided [RCV001949808] Chr12:65169759 [GRCh38]
Chr12:65563539 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.3GGC[4] (p.Ala6dup) microsatellite not provided [RCV002009147] Chr12:65169598..65169599 [GRCh38]
Chr12:65563378..65563379 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.2222A>G (p.Asp741Gly) single nucleotide variant not provided [RCV001893300] Chr12:65241004 [GRCh38]
Chr12:65634784 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.540C>T (p.Ser180=) single nucleotide variant not provided [RCV002021961] Chr12:65170136 [GRCh38]
Chr12:65563916 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.1125G>A (p.Met375Ile) single nucleotide variant not provided [RCV002040648] Chr12:65170721 [GRCh38]
Chr12:65564501 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.20C>T (p.Ser7Leu) single nucleotide variant not provided [RCV002003327] Chr12:65169616 [GRCh38]
Chr12:65563396 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.629del (p.Pro210fs) deletion not provided [RCV002002547] Chr12:65170222 [GRCh38]
Chr12:65564002 [GRCh37]
Chr12:12q14.3		 pathogenic
NM_014319.5(LEMD3):c.1810A>G (p.Asn604Asp) single nucleotide variant Inborn genetic diseases [RCV002562189]|not provided [RCV001965294] Chr12:65238703 [GRCh38]
Chr12:65632483 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.548C>G (p.Thr183Ser) single nucleotide variant not provided [RCV001985894] Chr12:65170144 [GRCh38]
Chr12:65563924 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.1323C>A (p.Tyr441Ter) single nucleotide variant LEMD3-related condition [RCV003418258]|not provided [RCV001949451] Chr12:65170919 [GRCh38]
Chr12:65564699 [GRCh37]
Chr12:12q14.3		 pathogenic
NM_014319.5(LEMD3):c.337T>G (p.Ser113Ala) single nucleotide variant not provided [RCV001987329] Chr12:65169933 [GRCh38]
Chr12:65563713 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.614C>G (p.Pro205Arg) single nucleotide variant not provided [RCV002006010] Chr12:65170210 [GRCh38]
Chr12:65563990 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.2728A>G (p.Ser910Gly) single nucleotide variant not provided [RCV001969267] Chr12:65246317 [GRCh38]
Chr12:65640097 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.1250C>T (p.Ala417Val) single nucleotide variant not provided [RCV001986377] Chr12:65170846 [GRCh38]
Chr12:65564626 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.738C>T (p.Gly246=) single nucleotide variant not provided [RCV002043293] Chr12:65170334 [GRCh38]
Chr12:65564114 [GRCh37]
Chr12:12q14.3		 likely benign|uncertain significance
NM_014319.5(LEMD3):c.1660A>C (p.Thr554Pro) single nucleotide variant not provided [RCV001966931] Chr12:65218584 [GRCh38]
Chr12:65612364 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.311del (p.Pro104fs) deletion not provided [RCV001945288] Chr12:65169906 [GRCh38]
Chr12:65563686 [GRCh37]
Chr12:12q14.3		 pathogenic
NM_014319.5(LEMD3):c.2027T>C (p.Val676Ala) single nucleotide variant Inborn genetic diseases [RCV002579581]|not provided [RCV002003014] Chr12:65240139 [GRCh38]
Chr12:65633919 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.1022A>T (p.Glu341Val) single nucleotide variant not provided [RCV001945454] Chr12:65170618 [GRCh38]
Chr12:65564398 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.2618A>G (p.His873Arg) single nucleotide variant not provided [RCV001942729] Chr12:65246207 [GRCh38]
Chr12:65639987 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.1094C>T (p.Thr365Ile) single nucleotide variant Inborn genetic diseases [RCV002556340]|not provided [RCV001943295] Chr12:65170690 [GRCh38]
Chr12:65564470 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.29A>C (p.Gln10Pro) single nucleotide variant not provided [RCV001940644] Chr12:65169625 [GRCh38]
Chr12:65563405 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.229G>A (p.Ala77Thr) single nucleotide variant not provided [RCV001937704] Chr12:65169825 [GRCh38]
Chr12:65563605 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.841C>G (p.Leu281Val) single nucleotide variant Inborn genetic diseases [RCV002554211]|not provided [RCV001898683] Chr12:65170437 [GRCh38]
Chr12:65564217 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.206A>G (p.Asn69Ser) single nucleotide variant LEMD3-related condition [RCV003407842]|not provided [RCV001887904] Chr12:65169802 [GRCh38]
Chr12:65563582 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.1685C>T (p.Ala562Val) single nucleotide variant not provided [RCV001887554] Chr12:65218609 [GRCh38]
Chr12:65612389 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.1649C>G (p.Ser550Cys) single nucleotide variant not provided [RCV001943735] Chr12:65218573 [GRCh38]
Chr12:65612353 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.1672C>A (p.Gln558Lys) single nucleotide variant not provided [RCV001955367] Chr12:65218596 [GRCh38]
Chr12:65612376 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.253G>C (p.Ala85Pro) single nucleotide variant not provided [RCV001997237] Chr12:65169849 [GRCh38]
Chr12:65563629 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.1130C>G (p.Ser377Ter) single nucleotide variant not provided [RCV002037662] Chr12:65170726 [GRCh38]
Chr12:65564506 [GRCh37]
Chr12:12q14.3		 pathogenic
NM_014319.5(LEMD3):c.242C>T (p.Pro81Leu) single nucleotide variant not provided [RCV001882154] Chr12:65169838 [GRCh38]
Chr12:65563618 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.1555A>G (p.Ile519Val) single nucleotide variant not provided [RCV001897771] Chr12:65210958 [GRCh38]
Chr12:65604738 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.1231C>T (p.Pro411Ser) single nucleotide variant not provided [RCV001877408] Chr12:65170827 [GRCh38]
Chr12:65564607 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.1522+20G>A single nucleotide variant not provided [RCV001976867] Chr12:65171138 [GRCh38]
Chr12:65564918 [GRCh37]
Chr12:12q14.3		 likely benign|uncertain significance
NM_014319.5(LEMD3):c.1283A>G (p.Asn428Ser) single nucleotide variant not provided [RCV001882330] Chr12:65170879 [GRCh38]
Chr12:65564659 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.2480A>G (p.Lys827Arg) single nucleotide variant not provided [RCV002015091] Chr12:65245761 [GRCh38]
Chr12:65639541 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.26C>T (p.Pro9Leu) single nucleotide variant not provided [RCV001993811] Chr12:65169622 [GRCh38]
Chr12:65563402 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.2489G>A (p.Arg830His) single nucleotide variant not provided [RCV001880604] Chr12:65245770 [GRCh38]
Chr12:65639550 [GRCh37]
Chr12:12q14.3		 uncertain significance
NC_000012.11:g.(?_64173741)_(65857102_?)del deletion Mucopolysaccharidosis, MPS-III-D [RCV001920699] Chr12:64173741..65857102 [GRCh37]
Chr12:12q14.2-14.3		 pathogenic
NM_014319.5(LEMD3):c.2053C>A (p.Gln685Lys) single nucleotide variant not provided [RCV002031194] Chr12:65240165 [GRCh38]
Chr12:65633945 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.239G>A (p.Gly80Glu) single nucleotide variant not provided [RCV001881192] Chr12:65169835 [GRCh38]
Chr12:65563615 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.809C>T (p.Ala270Val) single nucleotide variant not provided [RCV001973310] Chr12:65170405 [GRCh38]
Chr12:65564185 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.950C>G (p.Ala317Gly) single nucleotide variant not provided [RCV002047459] Chr12:65170546 [GRCh38]
Chr12:65564326 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.1000C>G (p.Leu334Val) single nucleotide variant not provided [RCV002012425] Chr12:65170596 [GRCh38]
Chr12:65564376 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.880C>G (p.Leu294Val) single nucleotide variant not provided [RCV001976237] Chr12:65170476 [GRCh38]
Chr12:65564256 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.943G>C (p.Gly315Arg) single nucleotide variant not provided [RCV001955058] Chr12:65170539 [GRCh38]
Chr12:65564319 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.446G>C (p.Ser149Thr) single nucleotide variant not provided [RCV001973761] Chr12:65170042 [GRCh38]
Chr12:65563822 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.173G>A (p.Gly58Asp) single nucleotide variant not provided [RCV001996460] Chr12:65169769 [GRCh38]
Chr12:65563549 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.216_254dup (p.Thr75_Ala87dup) duplication not provided [RCV001866477] Chr12:65169807..65169808 [GRCh38]
Chr12:65563587..65563588 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.1792C>T (p.Pro598Ser) single nucleotide variant not provided [RCV001921003] Chr12:65238685 [GRCh38]
Chr12:65632465 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.2023+1G>A single nucleotide variant not provided [RCV001998570] Chr12:65240031 [GRCh38]
Chr12:65633811 [GRCh37]
Chr12:12q14.3		 likely pathogenic
NM_014319.5(LEMD3):c.938G>T (p.Gly313Val) single nucleotide variant Inborn genetic diseases [RCV002592595]|not provided [RCV001978233] Chr12:65170534 [GRCh38]
Chr12:65564314 [GRCh37]
Chr12:12q14.3		 likely benign|uncertain significance
NM_014319.5(LEMD3):c.2545_2547dup (p.Lys849dup) duplication not provided [RCV001867011] Chr12:65245911..65245912 [GRCh38]
Chr12:65639691..65639692 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.543G>C (p.Glu181Asp) single nucleotide variant not provided [RCV001930840] Chr12:65170139 [GRCh38]
Chr12:65563919 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.652G>C (p.Glu218Gln) single nucleotide variant not provided [RCV001921090] Chr12:65170248 [GRCh38]
Chr12:65564028 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.1558C>T (p.Gln520Ter) single nucleotide variant not provided [RCV001939670] Chr12:65210961 [GRCh38]
Chr12:65604741 [GRCh37]
Chr12:12q14.3		 pathogenic
NM_014319.5(LEMD3):c.536C>A (p.Ala179Asp) single nucleotide variant not provided [RCV001937216] Chr12:65170132 [GRCh38]
Chr12:65563912 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.64_65delinsGC (p.Arg22Ala) indel not provided [RCV001934269] Chr12:65169660..65169661 [GRCh38]
Chr12:65563440..65563441 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.92T>A (p.Val31Glu) single nucleotide variant not provided [RCV002050691] Chr12:65169688 [GRCh38]
Chr12:65563468 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.825A>G (p.Val275=) single nucleotide variant not provided [RCV002188802] Chr12:65170421 [GRCh38]
Chr12:65564201 [GRCh37]
Chr12:12q14.3		 likely benign
NM_014319.5(LEMD3):c.2387+16del deletion not provided [RCV002130177] Chr12:65243485 [GRCh38]
Chr12:65637265 [GRCh37]
Chr12:12q14.3		 likely benign
NM_014319.5(LEMD3):c.2127-3T>C single nucleotide variant not provided [RCV002148849] Chr12:65240906 [GRCh38]
Chr12:65634686 [GRCh37]
Chr12:12q14.3		 likely benign
NM_014319.5(LEMD3):c.2032C>T (p.Arg678Ter) single nucleotide variant not provided [RCV002224531] Chr12:65240144 [GRCh38]
Chr12:65633924 [GRCh37]
Chr12:12q14.3		 likely pathogenic
NM_014319.5(LEMD3):c.1437T>G (p.Thr479=) single nucleotide variant not provided [RCV002206126] Chr12:65171033 [GRCh38]
Chr12:65564813 [GRCh37]
Chr12:12q14.3		 likely benign
NM_014319.5(LEMD3):c.2387+7A>G single nucleotide variant not provided [RCV002207581] Chr12:65243476 [GRCh38]
Chr12:65637256 [GRCh37]
Chr12:12q14.3		 likely benign
NM_014319.5(LEMD3):c.99G>A (p.Glu33=) single nucleotide variant not provided [RCV002127174] Chr12:65169695 [GRCh38]
Chr12:65563475 [GRCh37]
Chr12:12q14.3		 likely benign
NM_014319.5(LEMD3):c.1176T>C (p.His392=) single nucleotide variant not provided [RCV002104619] Chr12:65170772 [GRCh38]
Chr12:65564552 [GRCh37]
Chr12:12q14.3		 likely benign
NM_014319.5(LEMD3):c.1848A>G (p.Pro616=) single nucleotide variant not provided [RCV002209148] Chr12:65238741 [GRCh38]
Chr12:65632521 [GRCh37]
Chr12:12q14.3		 likely benign
NM_014319.5(LEMD3):c.1159C>T (p.Leu387=) single nucleotide variant not provided [RCV002112074] Chr12:65170755 [GRCh38]
Chr12:65564535 [GRCh37]
Chr12:12q14.3		 likely benign
NM_014319.5(LEMD3):c.1188G>C (p.Gly396=) single nucleotide variant not provided [RCV002213997] Chr12:65170784 [GRCh38]
Chr12:65564564 [GRCh37]
Chr12:12q14.3		 likely benign
NM_014319.5(LEMD3):c.371G>A (p.Gly124Asp) single nucleotide variant not provided [RCV001945052] Chr12:65169967 [GRCh38]
Chr12:65563747 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.2126+14A>G single nucleotide variant not provided [RCV002173129] Chr12:65240252 [GRCh38]
Chr12:65634032 [GRCh37]
Chr12:12q14.3		 likely benign
NM_014319.5(LEMD3):c.1804T>C (p.Leu602=) single nucleotide variant LEMD3-related condition [RCV003978650]|not provided [RCV002096517] Chr12:65238697 [GRCh38]
Chr12:65632477 [GRCh37]
Chr12:12q14.3		 likely benign
NM_014319.5(LEMD3):c.2305+19C>G single nucleotide variant not provided [RCV002197395] Chr12:65241106 [GRCh38]
Chr12:65634886 [GRCh37]
Chr12:12q14.3		 likely benign
NM_014319.5(LEMD3):c.975C>T (p.Ala325=) single nucleotide variant not provided [RCV002151005] Chr12:65170571 [GRCh38]
Chr12:65564351 [GRCh37]
Chr12:12q14.3		 likely benign
NM_014319.5(LEMD3):c.906C>T (p.Ala302=) single nucleotide variant not provided [RCV002079877] Chr12:65170502 [GRCh38]
Chr12:65564282 [GRCh37]
Chr12:12q14.3		 likely benign
NM_014319.5(LEMD3):c.2126+13C>A single nucleotide variant not provided [RCV002153474] Chr12:65240251 [GRCh38]
Chr12:65634031 [GRCh37]
Chr12:12q14.3		 likely benign
NM_014319.5(LEMD3):c.2466C>T (p.His822=) single nucleotide variant not provided [RCV002191269] Chr12:65245747 [GRCh38]
Chr12:65639527 [GRCh37]
Chr12:12q14.3		 likely benign
NM_014319.5(LEMD3):c.750C>G (p.Val250=) single nucleotide variant LEMD3-related condition [RCV003958884]|not provided [RCV002134221] Chr12:65170346 [GRCh38]
Chr12:65564126 [GRCh37]
Chr12:12q14.3		 benign|likely benign
NM_014319.5(LEMD3):c.804C>T (p.Asp268=) single nucleotide variant not provided [RCV002170405] Chr12:65170400 [GRCh38]
Chr12:65564180 [GRCh37]
Chr12:12q14.3		 likely benign
NM_014319.5(LEMD3):c.429G>A (p.Glu143=) single nucleotide variant not provided [RCV002115382] Chr12:65170025 [GRCh38]
Chr12:65563805 [GRCh37]
Chr12:12q14.3		 likely benign
NM_014319.5(LEMD3):c.1695+15T>C single nucleotide variant not provided [RCV002116593] Chr12:65218634 [GRCh38]
Chr12:65612414 [GRCh37]
Chr12:12q14.3		 likely benign
NM_014319.5(LEMD3):c.953T>C (p.Met318Thr) single nucleotide variant not provided [RCV002165118] Chr12:65170549 [GRCh38]
Chr12:65564329 [GRCh37]
Chr12:12q14.3		 likely benign
NM_014319.5(LEMD3):c.2023+12G>T single nucleotide variant not provided [RCV002079176] Chr12:65240042 [GRCh38]
Chr12:65633822 [GRCh37]
Chr12:12q14.3		 likely benign
NM_014319.5(LEMD3):c.2387+20G>T single nucleotide variant not provided [RCV002192228] Chr12:65243489 [GRCh38]
Chr12:65637269 [GRCh37]
Chr12:12q14.3		 likely benign
NM_014319.5(LEMD3):c.406C>T (p.Leu136=) single nucleotide variant not provided [RCV002114916] Chr12:65170002 [GRCh38]
Chr12:65563782 [GRCh37]
Chr12:12q14.3		 likely benign
NM_014319.5(LEMD3):c.237G>A (p.Ala79=) single nucleotide variant not provided [RCV002110469] Chr12:65169833 [GRCh38]
Chr12:65563613 [GRCh37]
Chr12:12q14.3		 likely benign
NM_014319.5(LEMD3):c.2073A>G (p.Gln691=) single nucleotide variant not provided [RCV002150401] Chr12:65240185 [GRCh38]
Chr12:65633965 [GRCh37]
Chr12:12q14.3		 likely benign
NM_014319.5(LEMD3):c.2604A>G (p.Leu868=) single nucleotide variant not provided [RCV002175548] Chr12:65246193 [GRCh38]
Chr12:65639973 [GRCh37]
Chr12:12q14.3		 likely benign
NM_014319.5(LEMD3):c.1523-16T>C single nucleotide variant not provided [RCV002203732] Chr12:65210910 [GRCh38]
Chr12:65604690 [GRCh37]
Chr12:12q14.3		 likely benign
NM_014319.5(LEMD3):c.2383G>A (p.Val795Ile) single nucleotide variant Inborn genetic diseases [RCV003161652]|not provided [RCV002156368] Chr12:65243465 [GRCh38]
Chr12:65637245 [GRCh37]
Chr12:12q14.3		 likely benign|uncertain significance
NM_014319.5(LEMD3):c.306G>A (p.Arg102=) single nucleotide variant not provided [RCV002143237] Chr12:65169902 [GRCh38]
Chr12:65563682 [GRCh37]
Chr12:12q14.3		 likely benign
NM_014319.5(LEMD3):c.354C>T (p.Leu118=) single nucleotide variant not provided [RCV002162112] Chr12:65169950 [GRCh38]
Chr12:65563730 [GRCh37]
Chr12:12q14.3		 likely benign
NM_014319.5(LEMD3):c.1941C>G (p.Val647=) single nucleotide variant not provided [RCV002143610] Chr12:65239948 [GRCh38]
Chr12:65633728 [GRCh37]
Chr12:12q14.3		 likely benign
NM_014319.5(LEMD3):c.1686G>A (p.Ala562=) single nucleotide variant not provided [RCV002182360] Chr12:65218610 [GRCh38]
Chr12:65612390 [GRCh37]
Chr12:12q14.3		 likely benign
NM_014319.5(LEMD3):c.45G>A (p.Glu15=) single nucleotide variant not provided [RCV002119209] Chr12:65169641 [GRCh38]
Chr12:65563421 [GRCh37]
Chr12:12q14.3		 likely benign
NM_014319.5(LEMD3):c.84C>T (p.Pro28=) single nucleotide variant not provided [RCV002117722] Chr12:65169680 [GRCh38]
Chr12:65563460 [GRCh37]
Chr12:12q14.3		 likely benign
NM_014319.5(LEMD3):c.1732T>G (p.Ser578Ala) single nucleotide variant not provided [RCV002219391] Chr12:65238538 [GRCh38]
Chr12:65632318 [GRCh37]
Chr12:12q14.3		 likely benign
NM_014319.5(LEMD3):c.225G>C (p.Thr75=) single nucleotide variant not provided [RCV002180066] Chr12:65169821 [GRCh38]
Chr12:65563601 [GRCh37]
Chr12:12q14.3		 likely benign
NM_014319.5(LEMD3):c.2388-12A>G single nucleotide variant not provided [RCV002140137] Chr12:65245657 [GRCh38]
Chr12:65639437 [GRCh37]
Chr12:12q14.3		 likely benign
NM_014319.5(LEMD3):c.2157T>C (p.Ala719=) single nucleotide variant not provided [RCV002202387] Chr12:65240939 [GRCh38]
Chr12:65634719 [GRCh37]
Chr12:12q14.3		 likely benign
NM_014319.5(LEMD3):c.2387+12G>T single nucleotide variant not provided [RCV002181829] Chr12:65243481 [GRCh38]
Chr12:65637261 [GRCh37]
Chr12:12q14.3		 likely benign
NM_014319.5(LEMD3):c.13G>C (p.Ala5Pro) single nucleotide variant not provided [RCV003114838] Chr12:65169609 [GRCh38]
Chr12:65563389 [GRCh37]
Chr12:12q14.3		 uncertain significance
NC_000012.11:g.(?_64849651)_(65857102_?)del deletion not provided [RCV003116735] Chr12:64849651..65857102 [GRCh37]
Chr12:12q14.2-14.3		 pathogenic
NM_014319.5(LEMD3):c.1767T>G (p.Val589=) single nucleotide variant not provided [RCV003121833] Chr12:65238573 [GRCh38]
Chr12:65632353 [GRCh37]
Chr12:12q14.3		 likely benign
NM_014319.5(LEMD3):c.616G>C (p.Glu206Gln) single nucleotide variant not provided [RCV003118923] Chr12:65170212 [GRCh38]
Chr12:65563992 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.1644C>G (p.Gly548=) single nucleotide variant not provided [RCV003119008] Chr12:65218568 [GRCh38]
Chr12:65612348 [GRCh37]
Chr12:12q14.3		 likely benign
NM_014319.5(LEMD3):c.2596T>A (p.Leu866Ile) single nucleotide variant not provided [RCV003121097] Chr12:65246185 [GRCh38]
Chr12:65639965 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.1994A>G (p.Gln665Arg) single nucleotide variant Dermatofibrosis lenticularis disseminata [RCV002247149] Chr12:65240001 [GRCh38]
Chr12:65633781 [GRCh37]
Chr12:12q14.3		 likely pathogenic
NM_014319.5(LEMD3):c.906del (p.Gly303fs) deletion Dermatofibrosis lenticularis disseminata [RCV002272986] Chr12:65170501 [GRCh38]
Chr12:65564281 [GRCh37]
Chr12:12q14.3		 pathogenic
NM_014319.5(LEMD3):c.203A>G (p.Asn68Ser) single nucleotide variant not provided [RCV002297498] Chr12:65169799 [GRCh38]
Chr12:65563579 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.2084C>T (p.Pro695Leu) single nucleotide variant not provided [RCV002297302] Chr12:65240196 [GRCh38]
Chr12:65633976 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.2351C>A (p.Pro784Gln) single nucleotide variant not provided [RCV002295995] Chr12:65243433 [GRCh38]
Chr12:65637213 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.1600C>G (p.Leu534Val) single nucleotide variant not provided [RCV002296704] Chr12:65216016 [GRCh38]
Chr12:65609796 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.1001T>C (p.Leu334Pro) single nucleotide variant not provided [RCV002296450] Chr12:65170597 [GRCh38]
Chr12:65564377 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.99G>C (p.Glu33Asp) single nucleotide variant not provided [RCV002299252] Chr12:65169695 [GRCh38]
Chr12:65563475 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.1198G>T (p.Val400Leu) single nucleotide variant not provided [RCV002300236] Chr12:65170794 [GRCh38]
Chr12:65564574 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.223A>C (p.Thr75Pro) single nucleotide variant not provided [RCV002300387] Chr12:65169819 [GRCh38]
Chr12:65563599 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.1033G>A (p.Gly345Arg) single nucleotide variant not provided [RCV002298061] Chr12:65170629 [GRCh38]
Chr12:65564409 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.2541T>C (p.Ala847=) single nucleotide variant not provided [RCV002816115] Chr12:65245908 [GRCh38]
Chr12:65639688 [GRCh37]
Chr12:12q14.3		 likely benign
NM_014319.5(LEMD3):c.465C>T (p.Gly155=) single nucleotide variant not provided [RCV002863323] Chr12:65170061 [GRCh38]
Chr12:65563841 [GRCh37]
Chr12:12q14.3		 likely benign
GRCh37/hg19 12q14.2-15(chr12:64609458-70352103)x1 copy number loss not provided [RCV002511748] Chr12:64609458..70352103 [GRCh37]
Chr12:12q14.2-15		 pathogenic
GRCh38/hg38 12q14.3(chr12:65192310-65195529)x4 copy number gain Orofacial cleft 3 [RCV002510246] Chr12:65192310..65195529 [GRCh38]
Chr12:12q14.3		 association
NM_014319.5(LEMD3):c.941G>T (p.Gly314Val) single nucleotide variant not provided [RCV002614300] Chr12:65170537 [GRCh38]
Chr12:65564317 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.798C>T (p.Asp266=) single nucleotide variant not provided [RCV003013765] Chr12:65170394 [GRCh38]
Chr12:65564174 [GRCh37]
Chr12:12q14.3		 likely benign
NM_014319.5(LEMD3):c.614C>T (p.Pro205Leu) single nucleotide variant not provided [RCV002685436] Chr12:65170210 [GRCh38]
Chr12:65563990 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.2023+4T>C single nucleotide variant not provided [RCV002996713] Chr12:65240034 [GRCh38]
Chr12:65633814 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.854G>T (p.Arg285Leu) single nucleotide variant Inborn genetic diseases [RCV002817182] Chr12:65170450 [GRCh38]
Chr12:65564230 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.205A>G (p.Asn69Asp) single nucleotide variant Inborn genetic diseases [RCV002949254]|not provided [RCV002975426] Chr12:65169801 [GRCh38]
Chr12:65563581 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.1208C>T (p.Pro403Leu) single nucleotide variant not provided [RCV003034218] Chr12:65170804 [GRCh38]
Chr12:65564584 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.1818T>C (p.Thr606=) single nucleotide variant not provided [RCV002681575] Chr12:65238711 [GRCh38]
Chr12:65632491 [GRCh37]
Chr12:12q14.3		 likely benign
NM_014319.5(LEMD3):c.1013C>T (p.Ala338Val) single nucleotide variant not provided [RCV002971124] Chr12:65170609 [GRCh38]
Chr12:65564389 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.1827G>A (p.Gln609=) single nucleotide variant not provided [RCV002779992] Chr12:65238720 [GRCh38]
Chr12:65632500 [GRCh37]
Chr12:12q14.3		 likely benign
NM_014319.5(LEMD3):c.1663C>A (p.Leu555Ile) single nucleotide variant Inborn genetic diseases [RCV002794980]|not provided [RCV002766656] Chr12:65218587 [GRCh38]
Chr12:65612367 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.1783G>C (p.Gly595Arg) single nucleotide variant not provided [RCV003032373] Chr12:65238676 [GRCh38]
Chr12:65632456 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.1437T>C (p.Thr479=) single nucleotide variant not provided [RCV002837740] Chr12:65171033 [GRCh38]
Chr12:65564813 [GRCh37]
Chr12:12q14.3		 likely benign
NM_014319.5(LEMD3):c.2695C>T (p.Arg899Cys) single nucleotide variant Inborn genetic diseases [RCV002774016]|not provided [RCV003561177] Chr12:65246284 [GRCh38]
Chr12:65640064 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.67C>T (p.Arg23Cys) single nucleotide variant not provided [RCV002794846] Chr12:65169663 [GRCh38]
Chr12:65563443 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.2376T>C (p.Phe792=) single nucleotide variant not provided [RCV002800356] Chr12:65243458 [GRCh38]
Chr12:65637238 [GRCh37]
Chr12:12q14.3		 likely benign
NM_014319.5(LEMD3):c.1026G>C (p.Gln342His) single nucleotide variant not provided [RCV002825618] Chr12:65170622 [GRCh38]
Chr12:65564402 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.2701C>T (p.Arg901Trp) single nucleotide variant not provided [RCV002593394] Chr12:65246290 [GRCh38]
Chr12:65640070 [GRCh37]
Chr12:12q14.3		 likely benign
NM_014319.5(LEMD3):c.945A>T (p.Gly315=) single nucleotide variant not provided [RCV002662995] Chr12:65170541 [GRCh38]
Chr12:65564321 [GRCh37]
Chr12:12q14.3		 likely benign
NM_014319.5(LEMD3):c.2421A>G (p.Gln807=) single nucleotide variant not provided [RCV002923247] Chr12:65245702 [GRCh38]
Chr12:65639482 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.834C>T (p.Asp278=) single nucleotide variant not provided [RCV002619108] Chr12:65170430 [GRCh38]
Chr12:65564210 [GRCh37]
Chr12:12q14.3		 benign
NM_014319.5(LEMD3):c.2305+18T>C single nucleotide variant not provided [RCV002795488] Chr12:65241105 [GRCh38]
Chr12:65634885 [GRCh37]
Chr12:12q14.3		 likely benign
NM_014319.5(LEMD3):c.1187G>T (p.Gly396Val) single nucleotide variant not provided [RCV002735462] Chr12:65170783 [GRCh38]
Chr12:65564563 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.9G>A (p.Ala3=) single nucleotide variant not provided [RCV002569804] Chr12:65169605 [GRCh38]
Chr12:65563385 [GRCh37]
Chr12:12q14.3		 likely benign
NM_014319.5(LEMD3):c.893C>T (p.Thr298Ile) single nucleotide variant Inborn genetic diseases [RCV003269475]|not provided [RCV002591630] Chr12:65170489 [GRCh38]
Chr12:65564269 [GRCh37]
Chr12:12q14.3		 likely benign|uncertain significance
NM_014319.5(LEMD3):c.2606A>G (p.Asp869Gly) single nucleotide variant not provided [RCV002590533] Chr12:65246195 [GRCh38]
Chr12:65639975 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.8C>T (p.Ala3Val) single nucleotide variant not provided [RCV002796240] Chr12:65169604 [GRCh38]
Chr12:65563384 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.204_206del (p.Asn70del) deletion not provided [RCV002691039] Chr12:65169798..65169800 [GRCh38]
Chr12:65563578..65563580 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.15A>G (p.Ala5=) single nucleotide variant not provided [RCV002592377] Chr12:65169611 [GRCh38]
Chr12:65563391 [GRCh37]
Chr12:12q14.3		 likely benign
NM_014319.5(LEMD3):c.495C>T (p.Leu165=) single nucleotide variant not provided [RCV002662439] Chr12:65170091 [GRCh38]
Chr12:65563871 [GRCh37]
Chr12:12q14.3		 likely benign
NM_014319.5(LEMD3):c.1949G>A (p.Arg650His) single nucleotide variant not provided [RCV002780413] Chr12:65239956 [GRCh38]
Chr12:65633736 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.426C>T (p.Asp142=) single nucleotide variant not provided [RCV003038985] Chr12:65170022 [GRCh38]
Chr12:65563802 [GRCh37]
Chr12:12q14.3		 likely benign
NM_014319.5(LEMD3):c.2382C>T (p.Pro794=) single nucleotide variant not provided [RCV003080830] Chr12:65243464 [GRCh38]
Chr12:65637244 [GRCh37]
Chr12:12q14.3		 likely benign
NM_014319.5(LEMD3):c.798C>G (p.Asp266Glu) single nucleotide variant not provided [RCV002913314] Chr12:65170394 [GRCh38]
Chr12:65564174 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.1008GGC[4] (p.Ala340_Glu341insAla) microsatellite not provided [RCV003100593] Chr12:65170603..65170604 [GRCh38]
Chr12:65564383..65564384 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.1132A>G (p.Thr378Ala) single nucleotide variant Inborn genetic diseases [RCV002925793] Chr12:65170728 [GRCh38]
Chr12:65564508 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.1608T>A (p.Asp536Glu) single nucleotide variant not provided [RCV002824685] Chr12:65216024 [GRCh38]
Chr12:65609804 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.798C>A (p.Asp266Glu) single nucleotide variant not provided [RCV003038550] Chr12:65170394 [GRCh38]
Chr12:65564174 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.318C>T (p.Gly106=) single nucleotide variant not provided [RCV002658516] Chr12:65169914 [GRCh38]
Chr12:65563694 [GRCh37]
Chr12:12q14.3		 likely benign
NM_014319.5(LEMD3):c.1059C>T (p.Pro353=) single nucleotide variant not provided [RCV002820235] Chr12:65170655 [GRCh38]
Chr12:65564435 [GRCh37]
Chr12:12q14.3		 likely benign
NM_014319.5(LEMD3):c.708G>A (p.Glu236=) single nucleotide variant not provided [RCV002851415] Chr12:65170304 [GRCh38]
Chr12:65564084 [GRCh37]
Chr12:12q14.3		 likely benign
NM_014319.5(LEMD3):c.666G>A (p.Gly222=) single nucleotide variant not provided [RCV002790379] Chr12:65170262 [GRCh38]
Chr12:65564042 [GRCh37]
Chr12:12q14.3		 likely benign
NM_014319.5(LEMD3):c.870T>C (p.His290=) single nucleotide variant not provided [RCV002805327] Chr12:65170466 [GRCh38]
Chr12:65564246 [GRCh37]
Chr12:12q14.3		 likely benign
NM_014319.5(LEMD3):c.173G>C (p.Gly58Ala) single nucleotide variant not provided [RCV002645625] Chr12:65169769 [GRCh38]
Chr12:65563549 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.1851G>C (p.Leu617=) single nucleotide variant not provided [RCV002875798] Chr12:65238744 [GRCh38]
Chr12:65632524 [GRCh37]
Chr12:12q14.3		 likely benign
NM_014319.5(LEMD3):c.330C>T (p.Ile110=) single nucleotide variant not provided [RCV003025859] Chr12:65169926 [GRCh38]
Chr12:65563706 [GRCh37]
Chr12:12q14.3		 likely benign
NM_014319.5(LEMD3):c.2279T>A (p.Ile760Lys) single nucleotide variant not provided [RCV002626542] Chr12:65241061 [GRCh38]
Chr12:65634841 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.1853T>C (p.Met618Thr) single nucleotide variant not provided [RCV002711576] Chr12:65238746 [GRCh38]
Chr12:65632526 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.1631A>T (p.Asp544Val) single nucleotide variant not provided [RCV003043567] Chr12:65218555 [GRCh38]
Chr12:65612335 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.1120G>C (p.Asp374His) single nucleotide variant Inborn genetic diseases [RCV002665721] Chr12:65170716 [GRCh38]
Chr12:65564496 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.1126G>T (p.Asp376Tyr) single nucleotide variant not provided [RCV002642679] Chr12:65170722 [GRCh38]
Chr12:65564502 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.702C>G (p.Thr234=) single nucleotide variant not provided [RCV003022244] Chr12:65170298 [GRCh38]
Chr12:65564078 [GRCh37]
Chr12:12q14.3		 likely benign
NM_014319.5(LEMD3):c.305G>A (p.Arg102Gln) single nucleotide variant not provided [RCV002741541] Chr12:65169901 [GRCh38]
Chr12:65563681 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.2573-18_2573-16del microsatellite not provided [RCV002575297] Chr12:65246140..65246142 [GRCh38]
Chr12:65639920..65639922 [GRCh37]
Chr12:12q14.3		 likely benign
NM_014319.5(LEMD3):c.1498G>T (p.Val500Leu) single nucleotide variant not provided [RCV002745659] Chr12:65171094 [GRCh38]
Chr12:65564874 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.278C>G (p.Pro93Arg) single nucleotide variant Inborn genetic diseases [RCV002713166]|not provided [RCV003565580] Chr12:65169874 [GRCh38]
Chr12:65563654 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.230C>T (p.Ala77Val) single nucleotide variant not provided [RCV003055810] Chr12:65169826 [GRCh38]
Chr12:65563606 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.1847C>T (p.Pro616Leu) single nucleotide variant Inborn genetic diseases [RCV002830381] Chr12:65238740 [GRCh38]
Chr12:65632520 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.602G>A (p.Arg201Lys) single nucleotide variant not provided [RCV002594202] Chr12:65170198 [GRCh38]
Chr12:65563978 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.723C>G (p.Ser241Arg) single nucleotide variant Inborn genetic diseases [RCV002574204]|not provided [RCV002574205] Chr12:65170319 [GRCh38]
Chr12:65564099 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.796G>A (p.Asp266Asn) single nucleotide variant not provided [RCV002575035] Chr12:65170392 [GRCh38]
Chr12:65564172 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.373G>T (p.Ala125Ser) single nucleotide variant not provided [RCV002594178] Chr12:65169969 [GRCh38]
Chr12:65563749 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.525G>T (p.Ala175=) single nucleotide variant not provided [RCV002875650] Chr12:65170121 [GRCh38]
Chr12:65563901 [GRCh37]
Chr12:12q14.3		 likely benign
NM_014319.5(LEMD3):c.1285C>T (p.His429Tyr) single nucleotide variant not provided [RCV003041655] Chr12:65170881 [GRCh38]
Chr12:65564661 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.763C>T (p.Arg255Trp) single nucleotide variant Inborn genetic diseases [RCV002712427] Chr12:65170359 [GRCh38]
Chr12:65564139 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.461C>T (p.Ala154Val) single nucleotide variant not provided [RCV002953915] Chr12:65170057 [GRCh38]
Chr12:65563837 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.535G>A (p.Ala179Thr) single nucleotide variant not provided [RCV002710161] Chr12:65170131 [GRCh38]
Chr12:65563911 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.1227T>C (p.Ser409=) single nucleotide variant not provided [RCV002676307] Chr12:65170823 [GRCh38]
Chr12:65564603 [GRCh37]
Chr12:12q14.3		 likely benign
NM_014319.5(LEMD3):c.176G>A (p.Arg59His) single nucleotide variant not provided [RCV003031852] Chr12:65169772 [GRCh38]
Chr12:65563552 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.2099G>T (p.Arg700Leu) single nucleotide variant not provided [RCV002632288] Chr12:65240211 [GRCh38]
Chr12:65633991 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.2210T>C (p.Ile737Thr) single nucleotide variant not provided [RCV003049460] Chr12:65240992 [GRCh38]
Chr12:65634772 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.1059C>G (p.Pro353=) single nucleotide variant not provided [RCV002649348] Chr12:65170655 [GRCh38]
Chr12:65564435 [GRCh37]
Chr12:12q14.3		 likely benign
NM_014319.5(LEMD3):c.1892T>C (p.Val631Ala) single nucleotide variant not provided [RCV003046001] Chr12:65238785 [GRCh38]
Chr12:65632565 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.724C>G (p.Arg242Gly) single nucleotide variant not provided [RCV002810665] Chr12:65170320 [GRCh38]
Chr12:65564100 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.480A>G (p.Lys160=) single nucleotide variant not provided [RCV002833550] Chr12:65170076 [GRCh38]
Chr12:65563856 [GRCh37]
Chr12:12q14.3		 likely benign
NM_014319.5(LEMD3):c.1095C>T (p.Thr365=) single nucleotide variant not provided [RCV002670734] Chr12:65170691 [GRCh38]
Chr12:65564471 [GRCh37]
Chr12:12q14.3		 likely benign
NM_014319.5(LEMD3):c.75C>G (p.Gly25=) single nucleotide variant not provided [RCV003089460] Chr12:65169671 [GRCh38]
Chr12:65563451 [GRCh37]
Chr12:12q14.3		 likely benign
NM_014319.5(LEMD3):c.1775+14T>C single nucleotide variant not provided [RCV002922798] Chr12:65238595 [GRCh38]
Chr12:65632375 [GRCh37]
Chr12:12q14.3		 likely benign
NM_014319.5(LEMD3):c.2699T>C (p.Leu900Pro) single nucleotide variant Inborn genetic diseases [RCV002806155]|not provided [RCV002806154] Chr12:65246288 [GRCh38]
Chr12:65640068 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.1118C>T (p.Thr373Ile) single nucleotide variant not provided [RCV002578241] Chr12:65170714 [GRCh38]
Chr12:65564494 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.960C>G (p.Asp320Glu) single nucleotide variant not provided [RCV002628336] Chr12:65170556 [GRCh38]
Chr12:65564336 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.1627+19A>G single nucleotide variant not provided [RCV003027705] Chr12:65216062 [GRCh38]
Chr12:65609842 [GRCh37]
Chr12:12q14.3		 likely benign
NM_014319.5(LEMD3):c.383C>T (p.Ala128Val) single nucleotide variant not provided [RCV002628120] Chr12:65169979 [GRCh38]
Chr12:65563759 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.711G>A (p.Pro237=) single nucleotide variant not provided [RCV002877387] Chr12:65170307 [GRCh38]
Chr12:65564087 [GRCh37]
Chr12:12q14.3		 likely benign
NM_014319.5(LEMD3):c.1523-13C>T single nucleotide variant not provided [RCV003010149] Chr12:65210913 [GRCh38]
Chr12:65604693 [GRCh37]
Chr12:12q14.3		 likely benign
NM_014319.5(LEMD3):c.1391C>T (p.Pro464Leu) single nucleotide variant not provided [RCV002962229] Chr12:65170987 [GRCh38]
Chr12:65564767 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.577C>A (p.Pro193Thr) single nucleotide variant not provided [RCV003030101] Chr12:65170173 [GRCh38]
Chr12:65563953 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.975C>G (p.Ala325=) single nucleotide variant not provided [RCV002770754] Chr12:65170571 [GRCh38]
Chr12:65564351 [GRCh37]
Chr12:12q14.3		 likely benign
NM_014319.5(LEMD3):c.887C>A (p.Pro296Gln) single nucleotide variant Inborn genetic diseases [RCV002832202]|not provided [RCV003111695] Chr12:65170483 [GRCh38]
Chr12:65564263 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.1015G>A (p.Ala339Thr) single nucleotide variant not provided [RCV003048457] Chr12:65170611 [GRCh38]
Chr12:65564391 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.1948C>A (p.Arg650Ser) single nucleotide variant Inborn genetic diseases [RCV002747310] Chr12:65239955 [GRCh38]
Chr12:65633735 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.1560+7A>G single nucleotide variant not provided [RCV003026530] Chr12:65210970 [GRCh38]
Chr12:65604750 [GRCh37]
Chr12:12q14.3		 likely benign
NM_014319.5(LEMD3):c.1585A>G (p.Asn529Asp) single nucleotide variant not provided [RCV002770615] Chr12:65216001 [GRCh38]
Chr12:65609781 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.858C>T (p.Pro286=) single nucleotide variant not provided [RCV002631410] Chr12:65170454 [GRCh38]
Chr12:65564234 [GRCh37]
Chr12:12q14.3		 likely benign
NM_014319.5(LEMD3):c.840C>T (p.Ser280=) single nucleotide variant not provided [RCV002806959] Chr12:65170436 [GRCh38]
Chr12:65564216 [GRCh37]
Chr12:12q14.3		 likely benign
NM_014319.5(LEMD3):c.15A>C (p.Ala5=) single nucleotide variant not provided [RCV003047423] Chr12:65169611 [GRCh38]
Chr12:65563391 [GRCh37]
Chr12:12q14.3		 likely benign
NM_014319.5(LEMD3):c.2306-18C>T single nucleotide variant not provided [RCV002631916] Chr12:65243370 [GRCh38]
Chr12:65637150 [GRCh37]
Chr12:12q14.3		 likely benign
NM_014319.5(LEMD3):c.1703G>C (p.Gly568Ala) single nucleotide variant not provided [RCV002600631] Chr12:65238509 [GRCh38]
Chr12:65632289 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.299A>G (p.Tyr100Cys) single nucleotide variant Inborn genetic diseases [RCV002879024] Chr12:65169895 [GRCh38]
Chr12:65563675 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.1105C>T (p.Pro369Ser) single nucleotide variant not provided [RCV002578214] Chr12:65170701 [GRCh38]
Chr12:65564481 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.382G>T (p.Ala128Ser) single nucleotide variant Inborn genetic diseases [RCV002809635] Chr12:65169978 [GRCh38]
Chr12:65563758 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.689G>A (p.Arg230Lys) single nucleotide variant not provided [RCV002580455] Chr12:65170285 [GRCh38]
Chr12:65564065 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.1954A>G (p.Met652Val) single nucleotide variant not provided [RCV002770611] Chr12:65239961 [GRCh38]
Chr12:65633741 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.16G>A (p.Ala6Thr) single nucleotide variant not provided [RCV002582422] Chr12:65169612 [GRCh38]
Chr12:65563392 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.984A>C (p.Leu328=) single nucleotide variant not provided [RCV002814381] Chr12:65170580 [GRCh38]
Chr12:65564360 [GRCh37]
Chr12:12q14.3		 likely benign
NM_014319.5(LEMD3):c.810C>T (p.Ala270=) single nucleotide variant not provided [RCV002583990] Chr12:65170406 [GRCh38]
Chr12:65564186 [GRCh37]
Chr12:12q14.3		 likely benign
NM_014319.5(LEMD3):c.2091A>T (p.Pro697=) single nucleotide variant not provided [RCV002634820] Chr12:65240203 [GRCh38]
Chr12:65633983 [GRCh37]
Chr12:12q14.3		 likely benign
NM_014319.5(LEMD3):c.169G>T (p.Gly57Trp) single nucleotide variant not provided [RCV002725358] Chr12:65169765 [GRCh38]
Chr12:65563545 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.719C>T (p.Ala240Val) single nucleotide variant not provided [RCV002725731] Chr12:65170315 [GRCh38]
Chr12:65564095 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.1508A>G (p.Asp503Gly) single nucleotide variant not provided [RCV002587475] Chr12:65171104 [GRCh38]
Chr12:65564884 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.1449A>G (p.Leu483=) single nucleotide variant not provided [RCV002606515] Chr12:65171045 [GRCh38]
Chr12:65564825 [GRCh37]
Chr12:12q14.3		 benign
NM_014319.5(LEMD3):c.285G>A (p.Ser95=) single nucleotide variant not provided [RCV002587801] Chr12:65169881 [GRCh38]
Chr12:65563661 [GRCh37]
Chr12:12q14.3		 likely benign
NM_014319.5(LEMD3):c.2196G>A (p.Thr732=) single nucleotide variant not provided [RCV002607193] Chr12:65240978 [GRCh38]
Chr12:65634758 [GRCh37]
Chr12:12q14.3		 likely benign
NM_014319.5(LEMD3):c.989G>A (p.Arg330Lys) single nucleotide variant not provided [RCV002613104] Chr12:65170585 [GRCh38]
Chr12:65564365 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.178G>A (p.Gly60Ser) single nucleotide variant not provided [RCV002611099] Chr12:65169774 [GRCh38]
Chr12:65563554 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.2653T>C (p.Leu885=) single nucleotide variant not provided [RCV003071832] Chr12:65246242 [GRCh38]
Chr12:65640022 [GRCh37]
Chr12:12q14.3		 likely benign
NM_014319.5(LEMD3):c.270G>T (p.Gly90=) single nucleotide variant not provided [RCV002589180] Chr12:65169866 [GRCh38]
Chr12:65563646 [GRCh37]
Chr12:12q14.3		 likely benign
NM_014319.5(LEMD3):c.913A>G (p.Arg305Gly) single nucleotide variant not provided [RCV002604886] Chr12:65170509 [GRCh38]
Chr12:65564289 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.2100C>T (p.Arg700=) single nucleotide variant not provided [RCV002612065] Chr12:65240212 [GRCh38]
Chr12:65633992 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.654G>C (p.Glu218Asp) single nucleotide variant not provided [RCV002589766] Chr12:65170250 [GRCh38]
Chr12:65564030 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.1227T>G (p.Ser409Arg) single nucleotide variant not provided [RCV002725840] Chr12:65170823 [GRCh38]
Chr12:65564603 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.1874G>A (p.Arg625Gln) single nucleotide variant Inborn genetic diseases [RCV003277392] Chr12:65238767 [GRCh38]
Chr12:65632547 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.764G>A (p.Arg255Gln) single nucleotide variant Inborn genetic diseases [RCV003186148]|not provided [RCV003779677] Chr12:65170360 [GRCh38]
Chr12:65564140 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.2335C>T (p.Pro779Ser) single nucleotide variant Inborn genetic diseases [RCV003215608] Chr12:65243417 [GRCh38]
Chr12:65637197 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.2338A>C (p.Asn780His) single nucleotide variant Inborn genetic diseases [RCV003266132] Chr12:65243420 [GRCh38]
Chr12:65637200 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.1522+11509_1522+11513del deletion Gorham-Stout disease [RCV003326062] Chr12:65182627..65182631 [GRCh38]
Chr12:65576407..65576411 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.2066A>C (p.Asp689Ala) single nucleotide variant Inborn genetic diseases [RCV003374391] Chr12:65240178 [GRCh38]
Chr12:65633958 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.266T>C (p.Met89Thr) single nucleotide variant not provided [RCV003873588] Chr12:65169862 [GRCh38]
Chr12:65563642 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.894T>C (p.Thr298=) single nucleotide variant not provided [RCV003569783] Chr12:65170490 [GRCh38]
Chr12:65564270 [GRCh37]
Chr12:12q14.3		 likely benign
NM_014319.5(LEMD3):c.427G>A (p.Glu143Lys) single nucleotide variant not provided [RCV003543405] Chr12:65170023 [GRCh38]
Chr12:65563803 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.2T>C (p.Met1Thr) single nucleotide variant not provided [RCV003543729] Chr12:65169598 [GRCh38]
Chr12:65563378 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.2166C>T (p.Phe722=) single nucleotide variant not provided [RCV003569894] Chr12:65240948 [GRCh38]
Chr12:65634728 [GRCh37]
Chr12:12q14.3		 likely benign
NM_014319.5(LEMD3):c.816C>A (p.Ser272Arg) single nucleotide variant not provided [RCV003569957] Chr12:65170412 [GRCh38]
Chr12:65564192 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.2584dup (p.Thr862fs) duplication not provided [RCV003571773] Chr12:65246172..65246173 [GRCh38]
Chr12:65639952..65639953 [GRCh37]
Chr12:12q14.3		 pathogenic
NM_014319.5(LEMD3):c.162C>T (p.His54=) single nucleotide variant not provided [RCV003873997] Chr12:65169758 [GRCh38]
Chr12:65563538 [GRCh37]
Chr12:12q14.3		 likely benign
GRCh37/hg19 12q14.1-15(chr12:61755618-70035424)x1 copy number loss not provided [RCV003483154] Chr12:61755618..70035424 [GRCh37]
Chr12:12q14.1-15		 pathogenic
NM_014319.5(LEMD3):c.1860T>C (p.Phe620=) single nucleotide variant not provided [RCV003570409] Chr12:65238753 [GRCh38]
Chr12:65632533 [GRCh37]
Chr12:12q14.3		 likely benign
NM_014319.5(LEMD3):c.172G>C (p.Gly58Arg) single nucleotide variant not provided [RCV003686432] Chr12:65169768 [GRCh38]
Chr12:65563548 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.387del (p.Ala130fs) deletion LEMD3-related condition [RCV003408401] Chr12:65169979 [GRCh38]
Chr12:65563759 [GRCh37]
Chr12:12q14.3		 likely pathogenic
NM_014319.5(LEMD3):c.311C>T (p.Pro104Leu) single nucleotide variant LEMD3-related condition [RCV003397315] Chr12:65169907 [GRCh38]
Chr12:65563687 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.352C>G (p.Leu118Val) single nucleotide variant not provided [RCV003825407] Chr12:65169948 [GRCh38]
Chr12:65563728 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.1345C>T (p.Pro449Ser) single nucleotide variant not provided [RCV003739842] Chr12:65170941 [GRCh38]
Chr12:65564721 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.1751A>G (p.Glu584Gly) single nucleotide variant not provided [RCV003739655] Chr12:65238557 [GRCh38]
Chr12:65632337 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.300C>T (p.Tyr100=) single nucleotide variant not provided [RCV003696254] Chr12:65169896 [GRCh38]
Chr12:65563676 [GRCh37]
Chr12:12q14.3		 likely benign
NM_014319.5(LEMD3):c.1382A>T (p.Glu461Val) single nucleotide variant not provided [RCV003547532] Chr12:65170978 [GRCh38]
Chr12:65564758 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.1627+20T>C single nucleotide variant not provided [RCV003663274] Chr12:65216063 [GRCh38]
Chr12:65609843 [GRCh37]
Chr12:12q14.3		 likely benign
NM_014319.5(LEMD3):c.1821T>G (p.Asp607Glu) single nucleotide variant not provided [RCV003545142] Chr12:65238714 [GRCh38]
Chr12:65632494 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.1635T>C (p.His545=) single nucleotide variant not provided [RCV003694989] Chr12:65218559 [GRCh38]
Chr12:65612339 [GRCh37]
Chr12:12q14.3		 likely benign
NM_014319.5(LEMD3):c.2601A>G (p.Arg867=) single nucleotide variant not provided [RCV003694091] Chr12:65246190 [GRCh38]
Chr12:65639970 [GRCh37]
Chr12:12q14.3		 likely benign
NM_014319.5(LEMD3):c.1763A>G (p.Asp588Gly) single nucleotide variant not provided [RCV003688611] Chr12:65238569 [GRCh38]
Chr12:65632349 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.426C>G (p.Asp142Glu) single nucleotide variant not provided [RCV003690078] Chr12:65170022 [GRCh38]
Chr12:65563802 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.1192T>C (p.Phe398Leu) single nucleotide variant not provided [RCV003547128] Chr12:65170788 [GRCh38]
Chr12:65564568 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.2328T>C (p.Asn776=) single nucleotide variant not provided [RCV003694426] Chr12:65243410 [GRCh38]
Chr12:65637190 [GRCh37]
Chr12:12q14.3		 likely benign
NM_014319.5(LEMD3):c.1448T>A (p.Leu483Ter) single nucleotide variant not provided [RCV003693839] Chr12:65171044 [GRCh38]
Chr12:65564824 [GRCh37]
Chr12:12q14.3		 pathogenic
NM_014319.5(LEMD3):c.1218T>G (p.Tyr406Ter) single nucleotide variant not provided [RCV003578395] Chr12:65170814 [GRCh38]
Chr12:65564594 [GRCh37]
Chr12:12q14.3		 pathogenic
NM_014319.5(LEMD3):c.277C>T (p.Pro93Ser) single nucleotide variant not provided [RCV003694794] Chr12:65169873 [GRCh38]
Chr12:65563653 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.1224_1225del (p.Asn408fs) deletion not provided [RCV003690448] Chr12:65170819..65170820 [GRCh38]
Chr12:65564599..65564600 [GRCh37]
Chr12:12q14.3		 pathogenic
NM_014319.5(LEMD3):c.6G>A (p.Ala2=) single nucleotide variant not provided [RCV003662416] Chr12:65169602 [GRCh38]
Chr12:65563382 [GRCh37]
Chr12:12q14.3		 likely benign
NM_014319.5(LEMD3):c.1413C>G (p.His471Gln) single nucleotide variant not provided [RCV003881644] Chr12:65171009 [GRCh38]
Chr12:65564789 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.609G>T (p.Ala203=) single nucleotide variant not provided [RCV003716706] Chr12:65170205 [GRCh38]
Chr12:65563985 [GRCh37]
Chr12:12q14.3		 likely benign
NM_014319.5(LEMD3):c.220G>A (p.Ala74Thr) single nucleotide variant not provided [RCV003828862] Chr12:65169816 [GRCh38]
Chr12:65563596 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.1399A>G (p.Ser467Gly) single nucleotide variant not provided [RCV003739632] Chr12:65170995 [GRCh38]
Chr12:65564775 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.1522+12A>G single nucleotide variant not provided [RCV003573993] Chr12:65171130 [GRCh38]
Chr12:65564910 [GRCh37]
Chr12:12q14.3		 likely benign
NM_014319.5(LEMD3):c.1355A>G (p.Glu452Gly) single nucleotide variant not provided [RCV003661562] Chr12:65170951 [GRCh38]
Chr12:65564731 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.126G>A (p.Lys42=) single nucleotide variant not provided [RCV003689858] Chr12:65169722 [GRCh38]
Chr12:65563502 [GRCh37]
Chr12:12q14.3		 likely benign
NM_014319.5(LEMD3):c.703GAG[1] (p.Glu236del) microsatellite not provided [RCV003687165] Chr12:65170299..65170301 [GRCh38]
Chr12:65564079..65564081 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.1494A>G (p.Thr498=) single nucleotide variant not provided [RCV003876662] Chr12:65171090 [GRCh38]
Chr12:65564870 [GRCh37]
Chr12:12q14.3		 likely benign
NM_014319.5(LEMD3):c.627C>T (p.Thr209=) single nucleotide variant not provided [RCV003544314] Chr12:65170223 [GRCh38]
Chr12:65564003 [GRCh37]
Chr12:12q14.3		 likely benign
NM_014319.5(LEMD3):c.1686G>C (p.Ala562=) single nucleotide variant not provided [RCV003576399] Chr12:65218610 [GRCh38]
Chr12:65612390 [GRCh37]
Chr12:12q14.3		 likely benign
NM_014319.5(LEMD3):c.822G>A (p.Gln274=) single nucleotide variant not provided [RCV003696208] Chr12:65170418 [GRCh38]
Chr12:65564198 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.2715C>G (p.Thr905=) single nucleotide variant not provided [RCV003573782] Chr12:65246304 [GRCh38]
Chr12:65640084 [GRCh37]
Chr12:12q14.3		 likely benign
NM_014319.5(LEMD3):c.968C>T (p.Ala323Val) single nucleotide variant not provided [RCV003660713] Chr12:65170564 [GRCh38]
Chr12:65564344 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.179G>T (p.Gly60Val) single nucleotide variant not provided [RCV003662863] Chr12:65169775 [GRCh38]
Chr12:65563555 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.921G>C (p.Glu307Asp) single nucleotide variant not provided [RCV003825582] Chr12:65170517 [GRCh38]
Chr12:65564297 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.746T>G (p.Leu249Arg) single nucleotide variant not provided [RCV003546332] Chr12:65170342 [GRCh38]
Chr12:65564122 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.2446G>C (p.Asp816His) single nucleotide variant not provided [RCV003691061] Chr12:65245727 [GRCh38]
Chr12:65639507 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.1652G>A (p.Ser551Asn) single nucleotide variant not provided [RCV003546360] Chr12:65218576 [GRCh38]
Chr12:65612356 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.911G>A (p.Gly304Asp) single nucleotide variant not provided [RCV003882083] Chr12:65170507 [GRCh38]
Chr12:65564287 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.117C>T (p.Tyr39=) single nucleotide variant not provided [RCV003687201] Chr12:65169713 [GRCh38]
Chr12:65563493 [GRCh37]
Chr12:12q14.3		 likely benign
NM_014319.5(LEMD3):c.915G>C (p.Arg305Ser) single nucleotide variant not provided [RCV003660013] Chr12:65170511 [GRCh38]
Chr12:65564291 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.243_248dup (p.Ala87_Gly88insAlaAla) duplication not provided [RCV003825577] Chr12:65169837..65169838 [GRCh38]
Chr12:65563617..65563618 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.835G>C (p.Asp279His) single nucleotide variant not provided [RCV003876862] Chr12:65170431 [GRCh38]
Chr12:65564211 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.2493+13T>C single nucleotide variant not provided [RCV003713536] Chr12:65245787 [GRCh38]
Chr12:65639567 [GRCh37]
Chr12:12q14.3		 likely benign
NM_014319.5(LEMD3):c.319C>T (p.Leu107=) single nucleotide variant not provided [RCV003660074] Chr12:65169915 [GRCh38]
Chr12:65563695 [GRCh37]
Chr12:12q14.3		 likely benign
NM_014319.5(LEMD3):c.709C>T (p.Pro237Ser) single nucleotide variant not provided [RCV003878384] Chr12:65170305 [GRCh38]
Chr12:65564085 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.821A>C (p.Gln274Pro) single nucleotide variant not provided [RCV003547580] Chr12:65170417 [GRCh38]
Chr12:65564197 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.1383G>A (p.Glu461=) single nucleotide variant not provided [RCV003692116] Chr12:65170979 [GRCh38]
Chr12:65564759 [GRCh37]
Chr12:12q14.3		 likely benign
NM_014319.5(LEMD3):c.483C>T (p.Asp161=) single nucleotide variant not provided [RCV003827479] Chr12:65170079 [GRCh38]
Chr12:65563859 [GRCh37]
Chr12:12q14.3		 likely benign
NM_014319.5(LEMD3):c.226G>A (p.Val76Ile) single nucleotide variant not provided [RCV003686482] Chr12:65169822 [GRCh38]
Chr12:65563602 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.213G>A (p.Thr71=) single nucleotide variant not provided [RCV003827076] Chr12:65169809 [GRCh38]
Chr12:65563589 [GRCh37]
Chr12:12q14.3		 likely benign
NM_014319.5(LEMD3):c.165G>C (p.Arg55=) single nucleotide variant not provided [RCV003881444] Chr12:65169761 [GRCh38]
Chr12:65563541 [GRCh37]
Chr12:12q14.3		 likely benign
NM_014319.5(LEMD3):c.180C>T (p.Gly60=) single nucleotide variant not provided [RCV003811888] Chr12:65169776 [GRCh38]
Chr12:65563556 [GRCh37]
Chr12:12q14.3		 likely benign
NM_014319.5(LEMD3):c.906C>G (p.Ala302=) single nucleotide variant not provided [RCV003811133] Chr12:65170502 [GRCh38]
Chr12:65564282 [GRCh37]
Chr12:12q14.3		 likely benign
NM_014319.5(LEMD3):c.2306-14C>T single nucleotide variant not provided [RCV003664277] Chr12:65243374 [GRCh38]
Chr12:65637154 [GRCh37]
Chr12:12q14.3		 likely benign
NM_014319.5(LEMD3):c.595dup (p.Ala199fs) duplication not provided [RCV003696822] Chr12:65170185..65170186 [GRCh38]
Chr12:65563965..65563966 [GRCh37]
Chr12:12q14.3		 pathogenic
NM_014319.5(LEMD3):c.685G>T (p.Glu229Ter) single nucleotide variant not provided [RCV003579759] Chr12:65170281 [GRCh38]
Chr12:65564061 [GRCh37]
Chr12:12q14.3		 pathogenic
NM_014319.5(LEMD3):c.2090C>T (p.Pro697Leu) single nucleotide variant not provided [RCV003664874] Chr12:65240202 [GRCh38]
Chr12:65633982 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.22G>A (p.Ala8Thr) single nucleotide variant not provided [RCV003548659] Chr12:65169618 [GRCh38]
Chr12:65563398 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.2084C>G (p.Pro695Arg) single nucleotide variant not provided [RCV003699774] Chr12:65240196 [GRCh38]
Chr12:65633976 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.238G>A (p.Gly80Arg) single nucleotide variant not provided [RCV003855692] Chr12:65169834 [GRCh38]
Chr12:65563614 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.2086A>G (p.Ile696Val) single nucleotide variant not provided [RCV003724367] Chr12:65240198 [GRCh38]
Chr12:65633978 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.1256C>G (p.Ser419Cys) single nucleotide variant not provided [RCV003580638] Chr12:65170852 [GRCh38]
Chr12:65564632 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.938G>C (p.Gly313Ala) single nucleotide variant not provided [RCV003856023] Chr12:65170534 [GRCh38]
Chr12:65564314 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.1205C>G (p.Ser402Cys) single nucleotide variant not provided [RCV003703678] Chr12:65170801 [GRCh38]
Chr12:65564581 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.1682C>T (p.Ala561Val) single nucleotide variant not provided [RCV003665891] Chr12:65218606 [GRCh38]
Chr12:65612386 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.1948C>G (p.Arg650Gly) single nucleotide variant not provided [RCV003697523] Chr12:65239955 [GRCh38]
Chr12:65633735 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.2358A>G (p.Leu786=) single nucleotide variant not provided [RCV003725858] Chr12:65243440 [GRCh38]
Chr12:65637220 [GRCh37]
Chr12:12q14.3		 likely benign
NM_014319.5(LEMD3):c.1758A>G (p.Gly586=) single nucleotide variant not provided [RCV003674342] Chr12:65238564 [GRCh38]
Chr12:65632344 [GRCh37]
Chr12:12q14.3		 likely benign
NM_014319.5(LEMD3):c.2306-6T>C single nucleotide variant not provided [RCV003851811] Chr12:65243382 [GRCh38]
Chr12:65637162 [GRCh37]
Chr12:12q14.3		 likely benign
NM_014319.5(LEMD3):c.1135T>G (p.Leu379Val) single nucleotide variant not provided [RCV003726511] Chr12:65170731 [GRCh38]
Chr12:65564511 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.263G>T (p.Gly88Val) single nucleotide variant not provided [RCV003856541] Chr12:65169859 [GRCh38]
Chr12:65563639 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.2488C>T (p.Arg830Cys) single nucleotide variant not provided [RCV003559115] Chr12:65245769 [GRCh38]
Chr12:65639549 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.651G>A (p.Val217=) single nucleotide variant not provided [RCV003560828] Chr12:65170247 [GRCh38]
Chr12:65564027 [GRCh37]
Chr12:12q14.3		 likely benign
NM_014319.5(LEMD3):c.559T>A (p.Ser187Thr) single nucleotide variant not provided [RCV003702865] Chr12:65170155 [GRCh38]
Chr12:65563935 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.2419C>G (p.Gln807Glu) single nucleotide variant not provided [RCV003816248] Chr12:65245700 [GRCh38]
Chr12:65639480 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.2127-6T>A single nucleotide variant not provided [RCV003702005] Chr12:65240903 [GRCh38]
Chr12:65634683 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.197G>A (p.Ser66Asn) single nucleotide variant not provided [RCV003724558] Chr12:65169793 [GRCh38]
Chr12:65563573 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.1123A>G (p.Met375Val) single nucleotide variant not provided [RCV003668302] Chr12:65170719 [GRCh38]
Chr12:65564499 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.731T>A (p.Val244Glu) single nucleotide variant not provided [RCV003667490] Chr12:65170327 [GRCh38]
Chr12:65564107 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.748G>T (p.Val250Phe) single nucleotide variant not provided [RCV003852321] Chr12:65170344 [GRCh38]
Chr12:65564124 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.1982A>G (p.Glu661Gly) single nucleotide variant not provided [RCV003836751] Chr12:65239989 [GRCh38]
Chr12:65633769 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.928G>C (p.Val310Leu) single nucleotide variant not provided [RCV003833760] Chr12:65170524 [GRCh38]
Chr12:65564304 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.2231T>C (p.Val744Ala) single nucleotide variant not provided [RCV003672201] Chr12:65241013 [GRCh38]
Chr12:65634793 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.1276C>G (p.His426Asp) single nucleotide variant not provided [RCV003580532] Chr12:65170872 [GRCh38]
Chr12:65564652 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.2014A>G (p.Lys672Glu) single nucleotide variant not provided [RCV003717638] Chr12:65240021 [GRCh38]
Chr12:65633801 [GRCh37]
Chr12:12q14.3		 likely benign
NM_014319.5(LEMD3):c.2080A>G (p.Met694Val) single nucleotide variant not provided [RCV003671819] Chr12:65240192 [GRCh38]
Chr12:65633972 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.1208C>G (p.Pro403Arg) single nucleotide variant not provided [RCV003835455] Chr12:65170804 [GRCh38]
Chr12:65564584 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.339_360del (p.Glu116fs) deletion not provided [RCV003549987] Chr12:65169935..65169956 [GRCh38]
Chr12:65563715..65563736 [GRCh37]
Chr12:12q14.3		 pathogenic
NM_014319.5(LEMD3):c.2127-1_2129del deletion not provided [RCV003702006] Chr12:65240907..65240910 [GRCh38]
Chr12:65634687..65634690 [GRCh37]
Chr12:12q14.3		 likely pathogenic
NM_014319.5(LEMD3):c.107G>A (p.Arg36His) single nucleotide variant not provided [RCV003814907] Chr12:65169703 [GRCh38]
Chr12:65563483 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.1059C>A (p.Pro353=) single nucleotide variant not provided [RCV003678583] Chr12:65170655 [GRCh38]
Chr12:65564435 [GRCh37]
Chr12:12q14.3		 likely benign
NM_014319.5(LEMD3):c.1057C>A (p.Pro353Thr) single nucleotide variant not provided [RCV003709134] Chr12:65170653 [GRCh38]
Chr12:65564433 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.2735G>A (p.Ter912=) single nucleotide variant not provided [RCV003865956] Chr12:65246324 [GRCh38]
Chr12:65640104 [GRCh37]
Chr12:12q14.3		 likely benign
NM_014319.5(LEMD3):c.342C>G (p.Gly114=) single nucleotide variant not provided [RCV003679233] Chr12:65169938 [GRCh38]
Chr12:65563718 [GRCh37]
Chr12:12q14.3		 likely benign
NM_014319.5(LEMD3):c.602G>C (p.Arg201Thr) single nucleotide variant not provided [RCV003729963] Chr12:65170198 [GRCh38]
Chr12:65563978 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.11C>G (p.Ala4Gly) single nucleotide variant not provided [RCV003730797] Chr12:65169607 [GRCh38]
Chr12:65563387 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.725G>T (p.Arg242Leu) single nucleotide variant not provided [RCV003562520] Chr12:65170321 [GRCh38]
Chr12:65564101 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.201T>C (p.Asn67=) single nucleotide variant not provided [RCV003709392] Chr12:65169797 [GRCh38]
Chr12:65563577 [GRCh37]
Chr12:12q14.3		 likely benign
NM_014319.5(LEMD3):c.544G>T (p.Val182Leu) single nucleotide variant not provided [RCV003732626] Chr12:65170140 [GRCh38]
Chr12:65563920 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.2192G>A (p.Arg731His) single nucleotide variant not provided [RCV003840922] Chr12:65240974 [GRCh38]
Chr12:65634754 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.1653T>A (p.Ser551Arg) single nucleotide variant not provided [RCV003706935] Chr12:65218577 [GRCh38]
Chr12:65612357 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.233C>A (p.Ala78Asp) single nucleotide variant not provided [RCV003674951] Chr12:65169829 [GRCh38]
Chr12:65563609 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.1290G>C (p.Thr430=) single nucleotide variant not provided [RCV003565228] Chr12:65170886 [GRCh38]
Chr12:65564666 [GRCh37]
Chr12:12q14.3		 likely benign
NM_014319.5(LEMD3):c.1063C>A (p.Pro355Thr) single nucleotide variant not provided [RCV003677704] Chr12:65170659 [GRCh38]
Chr12:65564439 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.1922-19A>G single nucleotide variant not provided [RCV003863187] Chr12:65239910 [GRCh38]
Chr12:65633690 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.1298A>G (p.Asn433Ser) single nucleotide variant not provided [RCV003735895] Chr12:65170894 [GRCh38]
Chr12:65564674 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.2024-14T>C single nucleotide variant not provided [RCV003842639] Chr12:65240122 [GRCh38]
Chr12:65633902 [GRCh37]
Chr12:12q14.3		 likely benign
NM_014319.5(LEMD3):c.2023+10T>C single nucleotide variant not provided [RCV003824098] Chr12:65240040 [GRCh38]
Chr12:65633820 [GRCh37]
Chr12:12q14.3		 likely benign
NM_014319.5(LEMD3):c.1628-16A>G single nucleotide variant not provided [RCV003841360] Chr12:65218536 [GRCh38]
Chr12:65612316 [GRCh37]
Chr12:12q14.3		 likely benign
NM_014319.5(LEMD3):c.314G>T (p.Gly105Val) single nucleotide variant not provided [RCV003675250] Chr12:65169910 [GRCh38]
Chr12:65563690 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.2387+19G>C single nucleotide variant not provided [RCV003675006] Chr12:65243488 [GRCh38]
Chr12:65637268 [GRCh37]
Chr12:12q14.3		 likely benign
NM_014319.5(LEMD3):c.2127-20C>A single nucleotide variant not provided [RCV003704680] Chr12:65240889 [GRCh38]
Chr12:65634669 [GRCh37]
Chr12:12q14.3		 likely benign
NM_014319.5(LEMD3):c.2398G>T (p.Asp800Tyr) single nucleotide variant not provided [RCV003710943] Chr12:65245679 [GRCh38]
Chr12:65639459 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.246GGC[5] (p.Ala87_Gly88insAla) microsatellite not provided [RCV003735725] Chr12:65169839..65169840 [GRCh38]
Chr12:65563619..65563620 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.1051T>C (p.Ser351Pro) single nucleotide variant not provided [RCV003682623] Chr12:65170647 [GRCh38]
Chr12:65564427 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.1034G>A (p.Gly345Glu) single nucleotide variant not provided [RCV003568028] Chr12:65170630 [GRCh38]
Chr12:65564410 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.315G>A (p.Gly105=) single nucleotide variant not provided [RCV003732979] Chr12:65169911 [GRCh38]
Chr12:65563691 [GRCh37]
Chr12:12q14.3		 likely benign
NM_014319.5(LEMD3):c.988A>T (p.Arg330Trp) single nucleotide variant not provided [RCV003863459] Chr12:65170584 [GRCh38]
Chr12:65564364 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.2033G>A (p.Arg678Gln) single nucleotide variant not provided [RCV003722367] Chr12:65240145 [GRCh38]
Chr12:65633925 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.2139_2140delinsCT (p.Lys713_Lys714delinsAsnTer) indel not provided [RCV003710035] Chr12:65240921..65240922 [GRCh38]
Chr12:65634701..65634702 [GRCh37]
Chr12:12q14.3		 pathogenic
NM_014319.5(LEMD3):c.2099G>A (p.Arg700His) single nucleotide variant not provided [RCV003731593] Chr12:65240211 [GRCh38]
Chr12:65633991 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.110C>G (p.Pro37Arg) single nucleotide variant not provided [RCV003867239] Chr12:65169706 [GRCh38]
Chr12:65563486 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.239G>C (p.Gly80Ala) single nucleotide variant not provided [RCV003684543] Chr12:65169835 [GRCh38]
Chr12:65563615 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.2722C>G (p.Gln908Glu) single nucleotide variant not provided [RCV003868752] Chr12:65246311 [GRCh38]
Chr12:65640091 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.665G>T (p.Gly222Val) single nucleotide variant not provided [RCV003681799] Chr12:65170261 [GRCh38]
Chr12:65564041 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.2443A>G (p.Ser815Gly) single nucleotide variant not provided [RCV003678081] Chr12:65245724 [GRCh38]
Chr12:65639504 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.1661C>T (p.Thr554Met) single nucleotide variant not provided [RCV003730800] Chr12:65218585 [GRCh38]
Chr12:65612365 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.1595A>G (p.Tyr532Cys) single nucleotide variant not provided [RCV003718857] Chr12:65216011 [GRCh38]
Chr12:65609791 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.883C>T (p.Pro295Ser) single nucleotide variant not provided [RCV003721954] Chr12:65170479 [GRCh38]
Chr12:65564259 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.2279T>C (p.Ile760Thr) single nucleotide variant not provided [RCV003734464] Chr12:65241061 [GRCh38]
Chr12:65634841 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.863G>A (p.Arg288Gln) single nucleotide variant not provided [RCV003864917] Chr12:65170459 [GRCh38]
Chr12:65564239 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.2493+3A>G single nucleotide variant not provided [RCV003685818] Chr12:65245777 [GRCh38]
Chr12:65639557 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.356_378del (p.Leu119fs) deletion not provided [RCV003551434] Chr12:65169946..65169968 [GRCh38]
Chr12:65563726..65563748 [GRCh37]
Chr12:12q14.3		 pathogenic
NM_014319.5(LEMD3):c.2295G>T (p.Trp765Cys) single nucleotide variant not provided [RCV003555649] Chr12:65241077 [GRCh38]
Chr12:65634857 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.1877G>A (p.Arg626His) single nucleotide variant not provided [RCV003721045] Chr12:65238770 [GRCh38]
Chr12:65632550 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.291C>T (p.Asp97=) single nucleotide variant not provided [RCV003733293] Chr12:65169887 [GRCh38]
Chr12:65563667 [GRCh37]
Chr12:12q14.3		 likely benign
NM_014319.5(LEMD3):c.2480A>C (p.Lys827Thr) single nucleotide variant not provided [RCV003553867] Chr12:65245761 [GRCh38]
Chr12:65639541 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.1943T>C (p.Val648Ala) single nucleotide variant not provided [RCV003870166] Chr12:65239950 [GRCh38]
Chr12:65633730 [GRCh37]
Chr12:12q14.3		 uncertain significance
GRCh37/hg19 12q14.3(chr12:65462762-66830065)x1 copy number loss not specified [RCV003986967] Chr12:65462762..66830065 [GRCh37]
Chr12:12q14.3		 pathogenic
NM_014319.5(LEMD3):c.54C>G (p.Phe18Leu) single nucleotide variant not provided [RCV003731944] Chr12:65169650 [GRCh38]
Chr12:65563430 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.1922-16T>C single nucleotide variant not provided [RCV003866420] Chr12:65239913 [GRCh38]
Chr12:65633693 [GRCh37]
Chr12:12q14.3		 likely benign
NM_014319.5(LEMD3):c.720G>A (p.Ala240=) single nucleotide variant not provided [RCV003705628] Chr12:65170316 [GRCh38]
Chr12:65564096 [GRCh37]
Chr12:12q14.3		 likely benign
NM_014319.5(LEMD3):c.263G>A (p.Gly88Glu) single nucleotide variant not provided [RCV003556752] Chr12:65169859 [GRCh38]
Chr12:65563639 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.2300G>T (p.Gly767Val) single nucleotide variant not provided [RCV003683619] Chr12:65241082 [GRCh38]
Chr12:65634862 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.823G>A (p.Val275Ile) single nucleotide variant not provided [RCV003864546] Chr12:65170419 [GRCh38]
Chr12:65564199 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.1109C>G (p.Pro370Arg) single nucleotide variant not provided [RCV003728941] Chr12:65170705 [GRCh38]
Chr12:65564485 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.2607T>C (p.Asp869=) single nucleotide variant not provided [RCV003679766] Chr12:65246196 [GRCh38]
Chr12:65639976 [GRCh37]
Chr12:12q14.3		 likely benign
NM_014319.5(LEMD3):c.1775+18C>T single nucleotide variant not provided [RCV003711523] Chr12:65238599 [GRCh38]
Chr12:65632379 [GRCh37]
Chr12:12q14.3		 likely benign
NM_014319.5(LEMD3):c.715T>C (p.Trp239Arg) single nucleotide variant not provided [RCV003848619] Chr12:65170311 [GRCh38]
Chr12:65564091 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.17C>T (p.Ala6Val) single nucleotide variant not provided [RCV003705982] Chr12:65169613 [GRCh38]
Chr12:65563393 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.1729A>G (p.Thr577Ala) single nucleotide variant not provided [RCV003682418] Chr12:65238535 [GRCh38]
Chr12:65632315 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.2106dup (p.Ile704fs) duplication not provided [RCV003556947] Chr12:65240216..65240217 [GRCh38]
Chr12:65633996..65633997 [GRCh37]
Chr12:12q14.3		 pathogenic
NM_014319.5(LEMD3):c.479A>G (p.Lys160Arg) single nucleotide variant not provided [RCV003864970] Chr12:65170075 [GRCh38]
Chr12:65563855 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.710C>T (p.Pro237Leu) single nucleotide variant not provided [RCV003682560] Chr12:65170306 [GRCh38]
Chr12:65564086 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.363G>T (p.Gly121=) single nucleotide variant not provided [RCV003682561] Chr12:65169959 [GRCh38]
Chr12:65563739 [GRCh37]
Chr12:12q14.3		 likely benign
NM_014319.5(LEMD3):c.373_374delinsTT (p.Ala125Phe) indel not provided [RCV003682562] Chr12:65169969..65169970 [GRCh38]
Chr12:65563749..65563750 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.460G>A (p.Ala154Thr) single nucleotide variant not provided [RCV003865890] Chr12:65170056 [GRCh38]
Chr12:65563836 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.2044G>C (p.Glu682Gln) single nucleotide variant not provided [RCV003551804] Chr12:65240156 [GRCh38]
Chr12:65633936 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.2595T>G (p.Tyr865Ter) single nucleotide variant not provided [RCV003566037] Chr12:65246184 [GRCh38]
Chr12:65639964 [GRCh37]
Chr12:12q14.3		 pathogenic
NM_014319.5(LEMD3):c.904G>T (p.Ala302Ser) single nucleotide variant not provided [RCV003734067] Chr12:65170500 [GRCh38]
Chr12:65564280 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.2243T>G (p.Ile748Ser) single nucleotide variant not provided [RCV003565910] Chr12:65241025 [GRCh38]
Chr12:65634805 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.335C>T (p.Ala112Val) single nucleotide variant not provided [RCV003822092] Chr12:65169931 [GRCh38]
Chr12:65563711 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.2271A>G (p.Ile757Met) single nucleotide variant not provided [RCV003732856] Chr12:65241053 [GRCh38]
Chr12:65634833 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.1560+16T>G single nucleotide variant not provided [RCV003677205] Chr12:65210979 [GRCh38]
Chr12:65604759 [GRCh37]
Chr12:12q14.3		 likely benign
NM_014319.5(LEMD3):c.1483A>G (p.Met495Val) single nucleotide variant not provided [RCV003553669] Chr12:65171079 [GRCh38]
Chr12:65564859 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.1522+16T>C single nucleotide variant not provided [RCV003709599] Chr12:65171134 [GRCh38]
Chr12:65564914 [GRCh37]
Chr12:12q14.3		 likely benign
NM_014319.5(LEMD3):c.665G>A (p.Gly222Glu) single nucleotide variant not provided [RCV003863322] Chr12:65170261 [GRCh38]
Chr12:65564041 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.170G>C (p.Gly57Ala) single nucleotide variant not provided [RCV003864631] Chr12:65169766 [GRCh38]
Chr12:65563546 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.881T>C (p.Leu294Pro) single nucleotide variant not provided [RCV003728777] Chr12:65170477 [GRCh38]
Chr12:65564257 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.611G>T (p.Gly204Val) single nucleotide variant not provided [RCV003842268] Chr12:65170207 [GRCh38]
Chr12:65563987 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.1019C>A (p.Ala340Glu) single nucleotide variant not provided [RCV003680657] Chr12:65170615 [GRCh38]
Chr12:65564395 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.304C>G (p.Arg102Gly) single nucleotide variant not provided [RCV003677630] Chr12:65169900 [GRCh38]
Chr12:65563680 [GRCh37]
Chr12:12q14.3		 uncertain significance
NM_014319.5(LEMD3):c.2142A>G (p.Lys714=) single nucleotide variant LEMD3-related condition [RCV003944311] Chr12:65240924 [GRCh38]
Chr12:65634704 [GRCh37]
Chr12:12q14.3		 likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:934
Count of miRNA genes:544
Interacting mature miRNAs:619
Transcripts:ENST00000308330, ENST00000539442, ENST00000541171, ENST00000542032, ENST00000544506, ENST00000545026
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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

Markers in Region
D12S1649  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371265,587,439 - 65,587,598UniSTSGRCh37
Build 361263,873,706 - 63,873,865RGDNCBI36
Celera1265,252,930 - 65,253,089RGD
Cytogenetic Map12q14UniSTS
HuRef1262,639,096 - 62,639,259UniSTS
Marshfield Genetic Map1276.36UniSTS
Marshfield Genetic Map1276.36RGD
Genethon Genetic Map1277.6UniSTS
deCODE Assembly Map1278.75UniSTS
SHGC-80813  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371265,620,910 - 65,621,180UniSTSGRCh37
Build 361263,907,177 - 63,907,447RGDNCBI36
Celera1265,286,435 - 65,286,705RGD
Cytogenetic Map12q14UniSTS
HuRef1262,672,644 - 62,672,914UniSTS
TNG Radiation Hybrid Map1231463.0UniSTS
D12S1499  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371265,596,448 - 65,597,052UniSTSGRCh37
Build 361263,882,715 - 63,883,319RGDNCBI36
Celera1265,261,971 - 65,262,575RGD
Cytogenetic Map12q14UniSTS
HuRef1262,648,188 - 62,648,792UniSTS
G64501  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371265,635,969 - 65,636,263UniSTSGRCh37
Build 361263,922,236 - 63,922,530RGDNCBI36
Celera1265,301,492 - 65,301,786RGD
Cytogenetic Map12q14UniSTS
HuRef1262,687,703 - 62,687,997UniSTS
WI-14580  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371265,641,961 - 65,642,085UniSTSGRCh37
Build 361263,928,228 - 63,928,352RGDNCBI36
Celera1265,307,484 - 65,307,608RGD
Cytogenetic Map12q14UniSTS
HuRef1262,693,696 - 62,693,820UniSTS
GeneMap99-GB4 RH Map12280.32UniSTS
Whitehead-RH Map12378.6UniSTS
SHGC-37256  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371265,620,251 - 65,620,376UniSTSGRCh37
Build 361263,906,518 - 63,906,643RGDNCBI36
Celera1265,285,776 - 65,285,901RGD
Cytogenetic Map12q14UniSTS
HuRef1262,671,985 - 62,672,110UniSTS
Stanford-G3 RH Map122720.0UniSTS
NCBI RH Map12512.4UniSTS
GeneMap99-G3 RH Map122666.0UniSTS
1930  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371265,631,488 - 65,631,583UniSTSGRCh37
Build 361263,917,755 - 63,917,850RGDNCBI36
Celera1265,297,015 - 65,297,110RGD
Cytogenetic Map12q14UniSTS
HuRef1262,683,226 - 62,683,321UniSTS
GeneMap99-GB4 RH Map12278.42UniSTS
G60068  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map12q14UniSTS
HuRef1262,693,505 - 62,693,708UniSTS
TNG Radiation Hybrid Map1231458.0UniSTS
U28794  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371265,596,448 - 65,597,053UniSTSGRCh37
Celera1265,261,971 - 65,262,576UniSTS
Cytogenetic Map12q14UniSTS
HuRef1262,648,188 - 62,648,793UniSTS


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 1916 1417 1045 209 1194 78 3472 897 1892 261 1355 1589 147 1 1105 2007 3
Low 523 1557 681 415 740 387 885 1300 1842 158 105 24 28 99 781 3 2
Below cutoff 17 17

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000308330   ⟹   ENSP00000308369
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1265,169,583 - 65,248,355 (+)Ensembl
RefSeq Acc Id: ENST00000539442
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1265,245,300 - 65,246,539 (+)Ensembl
RefSeq Acc Id: ENST00000541171
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1265,169,583 - 65,210,945 (+)Ensembl
RefSeq Acc Id: ENST00000542032
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1265,240,566 - 65,245,709 (+)Ensembl
RefSeq Acc Id: ENST00000544506
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1265,243,449 - 65,246,281 (+)Ensembl
RefSeq Acc Id: ENST00000545026
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1265,245,550 - 65,246,390 (+)Ensembl
RefSeq Acc Id: NM_001167614   ⟹   NP_001161086
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381265,169,583 - 65,248,355 (+)NCBI
GRCh371265,563,351 - 65,642,141 (+)ENTREZGENE
HuRef1262,615,007 - 62,693,876 (+)ENTREZGENE
CHM1_11265,530,362 - 65,609,142 (+)NCBI
T2T-CHM13v2.01265,148,505 - 65,227,374 (+)NCBI
Sequence:
RefSeq Acc Id: NM_014319   ⟹   NP_055134
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381265,169,583 - 65,248,355 (+)NCBI
GRCh371265,563,351 - 65,642,141 (+)ENTREZGENE
Build 361263,849,638 - 63,928,374 (+)NCBI Archive
HuRef1262,615,007 - 62,693,876 (+)ENTREZGENE
CHM1_11265,530,362 - 65,609,142 (+)NCBI
T2T-CHM13v2.01265,148,505 - 65,227,374 (+)NCBI
Sequence:
Reference Protein Sequences
RefSeq Acc Id: NP_055134   ⟸   NM_014319
- Peptide Label: isoform 1
- UniProtKB: Q9NT47 (UniProtKB/Swiss-Prot),   Q9NYA5 (UniProtKB/Swiss-Prot),   Q9Y2U8 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001161086   ⟸   NM_001167614
- Peptide Label: isoform 2
- UniProtKB: Q9Y2U8 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000308369   ⟸   ENST00000308330
Protein Domains
LEM

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9Y2U8-F1-model_v2 AlphaFold Q9Y2U8 1-911 view protein structure

Promoters
RGD ID:6790191
Promoter ID:HG_KWN:16074
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_001167614,   NM_014319
Position:
Human AssemblyChrPosition (strand)Source
Build 361263,849,401 - 63,850,592 (+)MPROMDB
RGD ID:7224699
Promoter ID:EPDNEW_H18094
Type:initiation region
Name:LEMD3_1
Description:LEM domain containing 3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381265,169,583 - 65,169,643EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:28887 AgrOrtholog
COSMIC LEMD3 COSMIC
Ensembl Genes ENSG00000174106 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000308330 ENTREZGENE
  ENST00000308330.3 UniProtKB/Swiss-Prot
Gene3D-CATH 1.10.10.1180 UniProtKB/Swiss-Prot
  1.10.720.40 UniProtKB/Swiss-Prot
  3.30.70.330 UniProtKB/Swiss-Prot
GTEx ENSG00000174106 GTEx
HGNC ID HGNC:28887 ENTREZGENE
Human Proteome Map LEMD3 Human Proteome Map
InterPro LEM/LEM-like_dom_sf UniProtKB/Swiss-Prot
  LEM_dom UniProtKB/Swiss-Prot
  Man1_RRM UniProtKB/Swiss-Prot
  MAN1_winged_helix_dom UniProtKB/Swiss-Prot
  MSC UniProtKB/Swiss-Prot
  Nucleotide-bd_a/b_plait_sf UniProtKB/Swiss-Prot
  RBD_domain_sf UniProtKB/Swiss-Prot
KEGG Report hsa:23592 UniProtKB/Swiss-Prot
NCBI Gene 23592 ENTREZGENE
OMIM 607844 OMIM
PANTHER INNER NUCLEAR MEMBRANE PROTEIN MAN1 LEM DOMAIN CONTAINING PROTEIN UniProtKB/Swiss-Prot
  PTHR13428:SF10 UniProtKB/Swiss-Prot
Pfam LEM UniProtKB/Swiss-Prot
  MSC UniProtKB/Swiss-Prot
PharmGKB PA134907442 PharmGKB
PROSITE LEM UniProtKB/Swiss-Prot
SMART LEM UniProtKB/Swiss-Prot
Superfamily-SCOP SSF54928 UniProtKB/Swiss-Prot
  SSF63451 UniProtKB/Swiss-Prot
UniProt MAN1_HUMAN UniProtKB/Swiss-Prot
  Q9NT47 ENTREZGENE
  Q9NYA5 ENTREZGENE
  Q9Y2U8 ENTREZGENE
UniProt Secondary Q9NT47 UniProtKB/Swiss-Prot
  Q9NYA5 UniProtKB/Swiss-Prot