LPIN2 (lipin 2) - Rat Genome Database

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Gene: LPIN2 (lipin 2) Homo sapiens
Analyze
Symbol: LPIN2
Name: lipin 2
RGD ID: 1312114
HGNC Page HGNC
Description: Enables phosphatidate phosphatase activity. Predicted to be involved in several processes, including cellular response to insulin stimulus; fatty acid catabolic process; and triglyceride biosynthetic process. Predicted to be active in cytosol; endoplasmic reticulum membrane; and nucleus.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: KIAA0249; lipin-2; phosphatidate phosphatase LPIN2
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl182,916,994 - 3,013,144 (-)EnsemblGRCh38hg38GRCh38
GRCh38182,916,994 - 3,013,201 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37182,916,992 - 3,013,142 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36182,906,992 - 3,001,945 (-)NCBINCBI36hg18NCBI36
Build 34182,906,992 - 3,001,945NCBI
Celera182,792,438 - 2,887,255 (-)NCBI
Cytogenetic Map18p11.31NCBI
HuRef182,878,273 - 2,973,028 (-)NCBIHuRef
CHM1_1182,916,356 - 3,011,234 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,2-dichloroethane  (ISO)
1,2-dimethylhydrazine  (ISO)
1-naphthyl isothiocyanate  (ISO)
17beta-estradiol  (ISO)
2,2',4,4',5,5'-hexachlorobiphenyl  (ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,6-dinitrotoluene  (ISO)
2-hydroxypropanoic acid  (EXP)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
4-hydroxyphenyl retinamide  (ISO)
6-(4-chlorophenyl)imidazo[2,1-b][1,3]thiazole-5-carbaldehyde O-(3,4-dichlorobenzyl)oxime  (EXP)
aflatoxin B1  (EXP)
aflatoxin B2  (EXP)
arsane  (ISO)
arsenic atom  (ISO)
benzo[a]pyrene  (EXP,ISO)
beta-naphthoflavone  (ISO)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
buta-1,3-diene  (ISO)
cadmium dichloride  (ISO)
carbamazepine  (EXP)
carbon nanotube  (ISO)
chloroprene  (ISO)
chlorpyrifos  (ISO)
ciguatoxin CTX1B  (ISO)
cisplatin  (EXP)
clofibrate  (ISO)
cyclosporin A  (EXP,ISO)
diazinon  (EXP)
dibutyl phthalate  (ISO)
dichloroacetic acid  (ISO)
doxorubicin  (EXP)
endosulfan  (ISO)
ethanol  (ISO)
folic acid  (ISO)
GW 4064  (EXP)
Indeno[1,2,3-cd]pyrene  (ISO)
indole-3-methanol  (ISO)
lovastatin  (EXP)
metformin  (ISO)
methapyrilene  (ISO)
methyl methanesulfonate  (EXP)
microcystin-LR  (ISO)
N-methylformamide  (ISO)
obeticholic acid  (EXP)
oleic acid  (EXP)
orphenadrine  (ISO)
ozone  (ISO)
paracetamol  (EXP,ISO)
paraquat  (ISO)
phenobarbital  (ISO)
pirinixic acid  (ISO)
pregnenolone 16alpha-carbonitrile  (ISO)
rac-lactic acid  (EXP)
resveratrol  (ISO)
rotenone  (ISO)
Salinomycin  (EXP)
silicon dioxide  (EXP)
sodium fluoride  (ISO)
streptozocin  (ISO)
sulforaphane  (ISO)
sunitinib  (EXP)
tert-butyl hydroperoxide  (EXP)
tetrachloroethene  (ISO)
tetrachloromethane  (ISO)
titanium dioxide  (ISO)
trichloroethene  (ISO)
triphenyl phosphate  (ISO)
triptonide  (ISO)
troglitazone  (ISO)
tungsten  (ISO)
zinc sulfate  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

References

Additional References at PubMed
PMID:2722772   PMID:8944226   PMID:9039502   PMID:10884287   PMID:11138012   PMID:12477932   PMID:15862761   PMID:15994876   PMID:17081983   PMID:17804763   PMID:18694939   PMID:19136718  
PMID:19717560   PMID:20032092   PMID:20301735   PMID:20379614   PMID:20735359   PMID:21490949   PMID:21873635   PMID:22321011   PMID:22334674   PMID:22481384   PMID:23087183   PMID:23517042  
PMID:23792589   PMID:24324551   PMID:25332235   PMID:25515538   PMID:28371410   PMID:28514442   PMID:29507755   PMID:31752156   PMID:33314777  


Genomics

Comparative Map Data
LPIN2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl182,916,994 - 3,013,144 (-)EnsemblGRCh38hg38GRCh38
GRCh38182,916,994 - 3,013,201 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37182,916,992 - 3,013,142 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36182,906,992 - 3,001,945 (-)NCBINCBI36hg18NCBI36
Build 34182,906,992 - 3,001,945NCBI
Celera182,792,438 - 2,887,255 (-)NCBI
Cytogenetic Map18p11.31NCBI
HuRef182,878,273 - 2,973,028 (-)NCBIHuRef
CHM1_1182,916,356 - 3,011,234 (-)NCBICHM1_1
Lpin2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391771,490,527 - 71,556,813 (+)NCBIGRCm39mm39
GRCm39 Ensembl1771,489,555 - 71,556,812 (+)Ensembl
GRCm381771,183,532 - 71,249,818 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1771,182,560 - 71,249,817 (+)EnsemblGRCm38mm10GRCm38
MGSCv371771,533,318 - 71,599,158 (+)NCBIGRCm37mm9NCBIm37
MGSCv361771,109,525 - 71,153,086 (+)NCBImm8
Celera1775,451,935 - 75,517,734 (+)NCBICelera
Cytogenetic Map17E1.3NCBI
Lpin2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.29111,083,378 - 111,158,193 (+)NCBImRatBN7.2
mRatBN7.2 Ensembl9111,083,745 - 111,158,193 (+)Ensembl
Rnor_6.09119,517,101 - 119,591,533 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl9119,517,101 - 119,591,533 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.09118,970,173 - 119,045,052 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.49110,380,692 - 110,484,329 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.19110,556,496 - 110,662,140 (+)NCBI
Celera9108,213,668 - 108,287,163 (+)NCBICelera
Cytogenetic Map9q38NCBI
Lpin2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554027,472,538 - 7,504,231 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554027,457,408 - 7,505,829 (+)NCBIChiLan1.0ChiLan1.0
LPIN2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11813,586,801 - 13,675,170 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1813,608,883 - 13,675,165 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01811,270,941 - 11,367,312 (+)NCBIMhudiblu_PPA_v0panPan3
LPIN2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1769,583,386 - 69,664,226 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl769,580,736 - 69,673,899 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha769,038,655 - 69,119,523 (-)NCBI
ROS_Cfam_1.0769,645,593 - 69,726,459 (-)NCBI
UMICH_Zoey_3.1769,327,908 - 69,408,884 (-)NCBI
UNSW_CanFamBas_1.0769,347,982 - 69,428,812 (-)NCBI
UU_Cfam_GSD_1.0769,645,434 - 69,726,575 (-)NCBI
Lpin2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494465,935,673 - 65,990,966 (-)NCBI
SpeTri2.0NW_0049366721,550,865 - 1,606,268 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
LPIN2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl6103,578,549 - 103,728,151 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.16103,625,725 - 103,728,151 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Pig Cytomap6qNCBI
LPIN2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11862,152,837 - 62,265,992 (-)NCBI
ChlSab1.1 Ensembl1862,177,246 - 62,236,593 (-)Ensembl
Vero_WHO_p1.0NW_02366605037,029,173 - 37,122,493 (-)NCBI
Lpin2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462477013,158,111 - 13,200,818 (-)NCBI

Position Markers
WI-15441  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37182,917,604 - 2,917,752UniSTSGRCh37
Build 36182,907,604 - 2,907,752RGDNCBI36
Celera182,793,050 - 2,793,198RGD
Cytogenetic Map18p11.31UniSTS
HuRef182,878,885 - 2,879,033UniSTS
GeneMap99-GB4 RH Map1827.01UniSTS
Whitehead-RH Map1819.6UniSTS
NCBI RH Map1850.6UniSTS
HSC1YH092  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37182,917,029 - 2,917,179UniSTSGRCh37
GRCh371144,206,347 - 44,206,498UniSTSGRCh37
Build 361144,162,923 - 44,163,074RGDNCBI36
Celera182,792,475 - 2,792,625UniSTS
Celera1144,353,649 - 44,353,800RGD
Cytogenetic Map18p11.31UniSTS
Cytogenetic Map11p12-p11UniSTS
HuRef182,878,310 - 2,878,460UniSTS
GeneMap99-GB4 RH Map1826.9UniSTS
Whitehead-RH Map1819.5UniSTS
RH8145  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37182,917,061 - 2,917,244UniSTSGRCh37
Build 36182,907,061 - 2,907,244RGDNCBI36
Celera182,792,507 - 2,792,690RGD
Cytogenetic Map18p11.31UniSTS
HuRef182,878,342 - 2,878,525UniSTS
RH102701  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37182,986,665 - 2,986,802UniSTSGRCh37
Build 36182,976,665 - 2,976,802RGDNCBI36
Celera182,862,058 - 2,862,195RGD
Cytogenetic Map18p11.31UniSTS
HuRef182,947,807 - 2,947,944UniSTS
GeneMap99-GB4 RH Map1827.52UniSTS
SHGC-82401  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37182,918,135 - 2,918,448UniSTSGRCh37
Build 36182,908,135 - 2,908,448RGDNCBI36
Celera182,793,581 - 2,793,894RGD
Cytogenetic Map18p11.31UniSTS
HuRef182,879,416 - 2,879,729UniSTS
TNG Radiation Hybrid Map181829.0UniSTS
G60225  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37182,917,032 - 2,917,303UniSTSGRCh37
Build 36182,907,032 - 2,907,303RGDNCBI36
Celera182,792,478 - 2,792,749RGD
Cytogenetic Map18p11.31UniSTS
HuRef182,878,313 - 2,878,584UniSTS
TNG Radiation Hybrid Map181822.0UniSTS
TNG Radiation Hybrid Map181815.0UniSTS
STS-R01450  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37182,960,472 - 2,960,593UniSTSGRCh37
Build 36182,950,472 - 2,950,593RGDNCBI36
Celera182,835,865 - 2,835,986RGD
Cytogenetic Map18p11.31UniSTS
HuRef182,921,614 - 2,921,735UniSTS
GeneMap99-GB4 RH Map1825.55UniSTS
NCBI RH Map1833.7UniSTS
WIAF-2076  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37182,917,060 - 2,917,231UniSTSGRCh37
Build 36182,907,060 - 2,907,231RGDNCBI36
Celera182,792,506 - 2,792,677RGD
Cytogenetic Map18p11.31UniSTS
HuRef182,878,341 - 2,878,512UniSTS
GeneMap99-GB4 RH Map1827.52UniSTS
LPIN2_8975  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37182,917,385 - 2,918,303UniSTSGRCh37
Build 36182,907,385 - 2,908,303RGDNCBI36
Celera182,792,831 - 2,793,749RGD
HuRef182,878,666 - 2,879,584UniSTS
G29225  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37183,010,086 - 3,010,225UniSTSGRCh37
Build 36183,000,086 - 3,000,225RGDNCBI36
Celera182,885,396 - 2,885,535RGD
Cytogenetic Map18p11.31UniSTS
HuRef182,971,169 - 2,971,308UniSTS
RH46193  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37182,918,060 - 2,918,184UniSTSGRCh37
Build 36182,908,060 - 2,908,184RGDNCBI36
Celera182,793,506 - 2,793,630RGD
Cytogenetic Map18p11.31UniSTS
HuRef182,879,341 - 2,879,465UniSTS
GeneMap99-GB4 RH Map1827.52UniSTS
STS-T69724  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37183,010,027 - 3,010,252UniSTSGRCh37
Build 36183,000,027 - 3,000,252RGDNCBI36
Celera182,885,337 - 2,885,562RGD
Cytogenetic Map18p11.31UniSTS
HuRef182,971,110 - 2,971,335UniSTS
GeneMap99-GB4 RH Map1825.55UniSTS
NCBI RH Map1833.7UniSTS
A006I48  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37182,919,032 - 2,919,133UniSTSGRCh37
Build 36182,909,032 - 2,909,133RGDNCBI36
Celera182,794,478 - 2,794,579RGD
Cytogenetic Map18p11.31UniSTS
HuRef182,880,313 - 2,880,414UniSTS
GeneMap99-GB4 RH Map1827.52UniSTS
WIAF-1505  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37182,917,103 - 2,917,287UniSTSGRCh37
Build 36182,907,103 - 2,907,287RGDNCBI36
Celera182,792,549 - 2,792,733RGD
Cytogenetic Map18p11.31UniSTS
HuRef182,878,384 - 2,878,568UniSTS
GeneMap99-GB4 RH Map1825.65UniSTS
NCBI RH Map1833.7UniSTS
A008A48  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37182,960,360 - 2,960,485UniSTSGRCh37
Build 36182,950,360 - 2,950,485RGDNCBI36
Celera182,835,753 - 2,835,878RGD
Cytogenetic Map18p11.31UniSTS
HuRef182,921,502 - 2,921,627UniSTS
GeneMap99-GB4 RH Map1827.52UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1809
Count of miRNA genes:1005
Interacting mature miRNAs:1205
Transcripts:ENST00000261596, ENST00000581568, ENST00000584294, ENST00000584915
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component
High
Medium 1902 2007 1579 500 1771 461 2270 625 3265 358 1310 1567 49 1149 1331 2
Low 530 973 144 122 176 3 2084 1563 443 60 138 40 122 55 1456 2
Below cutoff 4 1 1 5 1

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000261596   ⟹   ENSP00000261596
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl182,916,994 - 3,011,947 (-)Ensembl
RefSeq Acc Id: ENST00000581568
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl182,972,360 - 2,982,809 (-)Ensembl
RefSeq Acc Id: ENST00000584294   ⟹   ENSP00000463026
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl182,940,605 - 3,013,315 (-)Ensembl
RefSeq Acc Id: ENST00000584915   ⟹   ENSP00000463810
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl182,954,516 - 2,982,873 (-)Ensembl
RefSeq Acc Id: ENST00000677752   ⟹   ENSP00000504857
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl182,916,999 - 3,013,144 (-)Ensembl
RefSeq Acc Id: NM_001375808   ⟹   NP_001362737
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38182,916,999 - 3,013,144 (-)NCBI
RefSeq Acc Id: NM_001375809   ⟹   NP_001362738
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38182,916,999 - 3,013,144 (-)NCBI
RefSeq Acc Id: NM_014646   ⟹   NP_055461
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38182,916,994 - 3,011,947 (-)NCBI
GRCh37182,916,992 - 3,013,313 (-)NCBI
Build 36182,906,992 - 3,001,945 (-)NCBI Archive
HuRef182,878,273 - 2,973,028 (-)ENTREZGENE
CHM1_1182,916,356 - 3,011,234 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005258177   ⟹   XP_005258234
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38182,916,999 - 2,982,967 (-)NCBI
GRCh37182,916,992 - 3,013,313 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017026098   ⟹   XP_016881587
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38182,916,994 - 3,013,163 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017026099   ⟹   XP_016881588
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38182,916,999 - 2,977,172 (-)NCBI
Sequence:
RefSeq Acc Id: XR_935074
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38182,926,723 - 3,013,201 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_055461   ⟸   NM_014646
- UniProtKB: Q92539 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005258234   ⟸   XM_005258177
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_016881587   ⟸   XM_017026098
- Peptide Label: isoform X1
- UniProtKB: Q92539 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016881588   ⟸   XM_017026099
- Peptide Label: isoform X1
- UniProtKB: Q92539 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001362737   ⟸   NM_001375808
RefSeq Acc Id: NP_001362738   ⟸   NM_001375809
RefSeq Acc Id: ENSP00000463026   ⟸   ENST00000584294
RefSeq Acc Id: ENSP00000463810   ⟸   ENST00000584915
RefSeq Acc Id: ENSP00000261596   ⟸   ENST00000261596
RefSeq Acc Id: ENSP00000504857   ⟸   ENST00000677752
Protein Domains
Lipin_N

Promoters
RGD ID:6794908
Promoter ID:HG_KWN:27502
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   K562,   Lymphoblastoid
Transcripts:OTTHUMT00000316766
Position:
Human AssemblyChrPosition (strand)Source
Build 36182,972,674 - 2,973,174 (-)MPROMDB
RGD ID:7236829
Promoter ID:EPDNEW_H24161
Type:initiation region
Name:LPIN2_1
Description:lipin 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H24162  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38182,982,847 - 2,982,907EPDNEW
RGD ID:6794906
Promoter ID:HG_KWN:27503
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   HeLa_S3,   K562,   Lymphoblastoid
Transcripts:NM_014646
Position:
Human AssemblyChrPosition (strand)Source
Build 36183,001,861 - 3,002,767 (-)MPROMDB
RGD ID:6794907
Promoter ID:HG_KWN:27504
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000316765
Position:
Human AssemblyChrPosition (strand)Source
Build 36183,002,951 - 3,003,451 (-)MPROMDB
RGD ID:7236833
Promoter ID:EPDNEW_H24162
Type:initiation region
Name:LPIN2_2
Description:lipin 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H24161  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38183,011,863 - 3,011,923EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_014646.2(LPIN2):c.2088G>A (p.Lys696=) single nucleotide variant Majeed syndrome [RCV000559146] Chr18:2923861 [GRCh38]
Chr18:2923859 [GRCh37]
Chr18:18p11.31
uncertain significance
NM_014646.2(LPIN2):c.1154C>T (p.Pro385Leu) single nucleotide variant Majeed syndrome [RCV000792434]|not provided [RCV000521005] Chr18:2937706 [GRCh38]
Chr18:2937704 [GRCh37]
Chr18:18p11.31
uncertain significance
NM_014646.2(LPIN2):c.1043C>T (p.Pro348Leu) single nucleotide variant Majeed syndrome [RCV000020708]|not provided [RCV000859343]|not specified [RCV000236377] Chr18:2937817 [GRCh38]
Chr18:2937815 [GRCh37]
Chr18:18p11.31
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001375808.2(LPIN2):c.1316_1317del (p.Ser439fs) microsatellite Majeed syndrome [RCV000034150] Chr18:2931395..2931396 [GRCh38]
Chr18:2931393..2931394 [GRCh37]
Chr18:18p11.31
pathogenic
NM_014646.2(LPIN2):c.582G>A (p.Gln194=) single nucleotide variant Majeed syndrome [RCV001412578]|not provided [RCV000550585] Chr18:2951063 [GRCh38]
Chr18:2951061 [GRCh37]
Chr18:18p11.31
likely benign
NM_014646.2(LPIN2):c.2237G>A (p.Gly746Asp) single nucleotide variant Majeed syndrome [RCV000547642] Chr18:2922137 [GRCh38]
Chr18:2922135 [GRCh37]
Chr18:18p11.31
uncertain significance
NM_014646.2(LPIN2):c.2201C>T (p.Ser734Leu) single nucleotide variant Majeed syndrome [RCV000005190]|not provided [RCV000222509] Chr18:2922173 [GRCh38]
Chr18:2922171 [GRCh37]
Chr18:18p11.31
pathogenic
NM_014646.2(LPIN2):c.540_541del (p.Thr180_Cys181insTer) deletion Majeed syndrome [RCV000005191] Chr18:2951104..2951105 [GRCh38]
Chr18:2951102..2951103 [GRCh37]
Chr18:18p11.31
pathogenic
NM_014646.2(LPIN2):c.2327+1G>C single nucleotide variant Majeed syndrome [RCV000020709] Chr18:2922046 [GRCh38]
Chr18:2922044 [GRCh37]
Chr18:18p11.31
pathogenic
NM_014646.2(LPIN2):c.991G>T (p.Ala331Ser) single nucleotide variant Majeed syndrome [RCV000020710]|not provided [RCV000755296]|not specified [RCV000223474] Chr18:2937869 [GRCh38]
Chr18:2937867 [GRCh37]
Chr18:18p11.31
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
GRCh38/hg38 18p11.32-11.21(chr18:148963-13715860)x1 copy number loss See cases [RCV000051027] Chr18:148963..13715860 [GRCh38]
Chr18:148963..13715859 [GRCh37]
Chr18:138963..13705859 [NCBI36]
Chr18:18p11.32-11.21
pathogenic
GRCh38/hg38 18p11.32-11.21(chr18:148963-14081888)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051153]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051153]|See cases [RCV000051153] Chr18:148963..14081888 [GRCh38]
Chr18:148963..14081887 [GRCh37]
Chr18:18p11.32-11.21
pathogenic
GRCh38/hg38 18p11.32-11.21(chr18:148963-14081888)x1 copy number loss See cases [RCV000051154] Chr18:148963..14081888 [GRCh38]
Chr18:148963..14081887 [GRCh37]
Chr18:138963..14071887 [NCBI36]
Chr18:18p11.32-11.21
pathogenic
GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3 copy number gain See cases [RCV000051048] Chr18:148963..80252149 [GRCh38]
Chr18:148963..78010032 [GRCh37]
Chr18:138963..76111023 [NCBI36]
Chr18:18p11.32-q23
pathogenic
GRCh38/hg38 18p11.32-11.31(chr18:180230-4199943)x3 copy number gain See cases [RCV000052533] Chr18:180230..4199943 [GRCh38]
Chr18:180230..4199943 [GRCh37]
Chr18:170230..4189943 [NCBI36]
Chr18:18p11.32-11.31
pathogenic
GRCh38/hg38 18p11.32-11.21(chr18:1919684-15325188)x3 copy number gain See cases [RCV000052535] Chr18:1919684..15325188 [GRCh38]
Chr18:1919685..15325187 [GRCh37]
Chr18:1909685..15315187 [NCBI36]
Chr18:18p11.32-11.21
pathogenic
GRCh38/hg38 18p11.32-11.21(chr18:10001-15380684)x3 copy number gain See cases [RCV000052499] Chr18:10001..15380684 [GRCh38]
Chr18:10001..15380683 [GRCh37]
Chr18:1..15370683 [NCBI36]
Chr18:18p11.32-11.21
pathogenic
GRCh38/hg38 18p11.32-q23(chr18:53345-80209986)x3 copy number gain See cases [RCV000052501] Chr18:53345..80209986 [GRCh38]
Chr18:53345..77967869 [GRCh37]
Chr18:43345..76068860 [NCBI36]
Chr18:18p11.32-q23
pathogenic
GRCh38/hg38 18p11.32-q11.1(chr18:53345-20948503)x3 copy number gain See cases [RCV000052504] Chr18:53345..20948503 [GRCh38]
Chr18:53345..18528464 [GRCh37]
Chr18:43345..16782462 [NCBI36]
Chr18:18p11.32-q11.1
pathogenic
GRCh38/hg38 18p11.32-q23(chr18:148763-80252290)x3 copy number gain See cases [RCV000052507] Chr18:148763..80252290 [GRCh38]
Chr18:148763..78010173 [GRCh37]
Chr18:138763..76111164 [NCBI36]
Chr18:18p11.32-q23
pathogenic
GRCh38/hg38 18p11.32-q11.1(chr18:148963-21040153)x3 copy number gain See cases [RCV000052513] Chr18:148963..21040153 [GRCh38]
Chr18:148963..18620114 [GRCh37]
Chr18:138963..16874112 [NCBI36]
Chr18:18p11.32-q11.1
pathogenic
GRCh38/hg38 18p11.32-q23(chr18:148963-80244381)x3 copy number gain See cases [RCV000052514] Chr18:148963..80244381 [GRCh38]
Chr18:148963..78002264 [GRCh37]
Chr18:138963..76103255 [NCBI36]
Chr18:18p11.32-q23
pathogenic
GRCh38/hg38 18p11.32-11.21(chr18:131700-14226905)x1 copy number loss See cases [RCV000053461] Chr18:131700..14226905 [GRCh38]
Chr18:131700..14226904 [GRCh37]
Chr18:121700..14216904 [NCBI36]
Chr18:18p11.32-11.21
pathogenic
GRCh38/hg38 18p11.32-11.31(chr18:53344-7029134)x1 copy number loss See cases [RCV000053455] Chr18:53344..7029134 [GRCh38]
Chr18:53344..7029133 [GRCh37]
Chr18:43344..7019133 [NCBI36]
Chr18:18p11.32-11.31
pathogenic
GRCh38/hg38 18p11.32-11.22(chr18:112259-9135777)x1 copy number loss See cases [RCV000053456] Chr18:112259..9135777 [GRCh38]
Chr18:112259..9135775 [GRCh37]
Chr18:102259..9125775 [NCBI36]
Chr18:18p11.32-11.22
pathogenic
GRCh38/hg38 18p11.32-11.21(chr18:112259-14122522)x1 copy number loss See cases [RCV000053457] Chr18:112259..14122522 [GRCh38]
Chr18:112259..14122521 [GRCh37]
Chr18:102259..14112521 [NCBI36]
Chr18:18p11.32-11.21
pathogenic
GRCh38/hg38 18p11.32-11.21(chr18:131700-15121055)x1 copy number loss See cases [RCV000053458] Chr18:131700..15121055 [GRCh38]
Chr18:131700..15121054 [GRCh37]
Chr18:121700..15111054 [NCBI36]
Chr18:18p11.32-11.21
pathogenic
GRCh38/hg38 18p11.32-11.31(chr18:131700-3279166)x1 copy number loss See cases [RCV000053460] Chr18:131700..3279166 [GRCh38]
Chr18:131700..3279164 [GRCh37]
Chr18:121700..3269164 [NCBI36]
Chr18:18p11.32-11.31
pathogenic
GRCh38/hg38 18p11.32-11.22(chr18:131700-10536767)x1 copy number loss See cases [RCV000053781] Chr18:131700..10536767 [GRCh38]
Chr18:131700..10536764 [GRCh37]
Chr18:121700..10526764 [NCBI36]
Chr18:18p11.32-11.22
pathogenic
GRCh38/hg38 18p11.32-11.31(chr18:148763-3345033)x1 copy number loss See cases [RCV000053783] Chr18:148763..3345033 [GRCh38]
Chr18:148763..3345031 [GRCh37]
Chr18:138763..3335031 [NCBI36]
Chr18:18p11.32-11.31
pathogenic
GRCh38/hg38 18p11.32-11.21(chr18:148963-13530126)x1 copy number loss See cases [RCV000053784] Chr18:148963..13530126 [GRCh38]
Chr18:148963..13530125 [GRCh37]
Chr18:138963..13520125 [NCBI36]
Chr18:18p11.32-11.21
pathogenic
GRCh38/hg38 18p11.32-11.31(chr18:148963-6731495)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053785]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053785]|See cases [RCV000053785] Chr18:148963..6731495 [GRCh38]
Chr18:148963..6731494 [GRCh37]
Chr18:138963..6721494 [NCBI36]
Chr18:18p11.32-11.31
pathogenic
GRCh38/hg38 18p11.32-11.22(chr18:148963-8572827)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053786]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053786]|See cases [RCV000053786] Chr18:148963..8572827 [GRCh38]
Chr18:148963..8572825 [GRCh37]
Chr18:138963..8562825 [NCBI36]
Chr18:18p11.32-11.22
pathogenic
GRCh38/hg38 18p11.32-11.21(chr18:148963-13068104)x1 copy number loss See cases [RCV000053787] Chr18:148963..13068104 [GRCh38]
Chr18:148963..13068103 [GRCh37]
Chr18:138963..13058103 [NCBI36]
Chr18:18p11.32-11.21
pathogenic
GRCh38/hg38 18p11.32-11.31(chr18:2547398-6694867)x1 copy number loss See cases [RCV000053788] Chr18:2547398..6694867 [GRCh38]
Chr18:2547397..6694866 [GRCh37]
Chr18:2537397..6684866 [NCBI36]
Chr18:18p11.32-11.31
pathogenic
NM_014646.2(LPIN2):c.1159A>G (p.Lys387Glu) single nucleotide variant Majeed syndrome [RCV000084066]|Psoriasis [RCV001258259]|not specified [RCV000220059] Chr18:2937701 [GRCh38]
Chr18:2937699 [GRCh37]
Chr18:18p11.31
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_014646.2(LPIN2):c.1510C>T (p.Leu504Phe) single nucleotide variant Majeed syndrome [RCV000084067]|not provided [RCV000762223]|not specified [RCV000221897] Chr18:2929105 [GRCh38]
Chr18:2929103 [GRCh37]
Chr18:18p11.31
likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_014646.2(LPIN2):c.2223C>T (p.Ala741=) single nucleotide variant Majeed syndrome [RCV000084068]|not specified [RCV000126643] Chr18:2922151 [GRCh38]
Chr18:2922149 [GRCh37]
Chr18:18p11.31
benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_014646.2(LPIN2):c.120T>C (p.Asp40=) single nucleotide variant Majeed syndrome [RCV000533540]|not specified [RCV000126636] Chr18:2960721 [GRCh38]
Chr18:2960719 [GRCh37]
Chr18:18p11.31
benign
NM_014646.2(LPIN2):c.147C>T (p.His49=) single nucleotide variant Majeed syndrome [RCV000310310]|not specified [RCV000126637] Chr18:2960694 [GRCh38]
Chr18:2960692 [GRCh37]
Chr18:18p11.31
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_014646.2(LPIN2):c.1011C>T (p.Ser337=) single nucleotide variant Majeed syndrome [RCV001466319]|not provided [RCV000944161]|not specified [RCV000126638] Chr18:2937849 [GRCh38]
Chr18:2937847 [GRCh37]
Chr18:18p11.31
benign|likely benign
NM_014646.2(LPIN2):c.1410C>T (p.Thr470=) single nucleotide variant Majeed syndrome [RCV000876761]|not specified [RCV000126639] Chr18:2931302 [GRCh38]
Chr18:2931300 [GRCh37]
Chr18:18p11.31
benign|likely benign
NM_014646.2(LPIN2):c.1793+17C>T single nucleotide variant Majeed syndrome [RCV001287286]|not specified [RCV000126640] Chr18:2926706 [GRCh38]
Chr18:2926704 [GRCh37]
Chr18:18p11.31
benign|likely benign
NM_014646.2(LPIN2):c.1794-9G>A single nucleotide variant Majeed syndrome [RCV001407516]|not specified [RCV000126641] Chr18:2925377 [GRCh38]
Chr18:2925375 [GRCh37]
Chr18:18p11.31
benign|likely benign
NM_014646.2(LPIN2):c.1801G>A (p.Glu601Lys) single nucleotide variant Majeed syndrome [RCV000999782]|not provided [RCV000515075]|not specified [RCV000126642] Chr18:2925361 [GRCh38]
Chr18:2925359 [GRCh37]
Chr18:18p11.31
benign|likely benign|conflicting interpretations of pathogenicity
NM_014646.2(LPIN2):c.2316C>T (p.Ser772=) single nucleotide variant Majeed syndrome [RCV000872861]|not specified [RCV000126644] Chr18:2922058 [GRCh38]
Chr18:2922056 [GRCh37]
Chr18:18p11.31
benign|likely benign
NM_014646.2(LPIN2):c.2327+11G>A single nucleotide variant not specified [RCV000126645] Chr18:2922036 [GRCh38]
Chr18:2922034 [GRCh37]
Chr18:18p11.31
benign|likely benign|conflicting interpretations of pathogenicity
NM_014646.2(LPIN2):c.2328-13A>T single nucleotide variant Majeed syndrome [RCV001125327]|not specified [RCV000126646] Chr18:2921660 [GRCh38]
Chr18:2921658 [GRCh37]
Chr18:18p11.31
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_014646.2(LPIN2):c.2443-9C>T single nucleotide variant Majeed syndrome [RCV000536100]|not specified [RCV000126647] Chr18:2920890 [GRCh38]
Chr18:2920888 [GRCh37]
Chr18:18p11.31
benign|likely benign|conflicting interpretations of pathogenicity
NM_014646.2(LPIN2):c.2568C>T (p.Leu856=) single nucleotide variant Majeed syndrome [RCV001000079]|not specified [RCV000126648] Chr18:2920416 [GRCh38]
Chr18:2920414 [GRCh37]
Chr18:18p11.31
benign|likely benign|conflicting interpretations of pathogenicity
NM_014646.2:c.+3C>T single nucleotide variant not provided [RCV000126649] Chr18:18p11.31 benign
GRCh38/hg38 18p11.32-11.21(chr18:148963-14081888)x3 copy number gain See cases [RCV000051153] Chr18:148963..14081888 [GRCh38]
Chr18:148963..14081887 [GRCh37]
Chr18:138963..14071887 [NCBI36]
Chr18:18p11.32-11.21
pathogenic
NM_001375808.2(LPIN2):c.2612C>T (p.Ala871Val) single nucleotide variant Majeed syndrome [RCV001348621] Chr18:2920372 [GRCh38]
Chr18:2920370 [GRCh37]
Chr18:18p11.31
uncertain significance
GRCh38/hg38 18p11.32-q23(chr18:149089-80234391)x3 copy number gain See cases [RCV000134110] Chr18:149089..80234391 [GRCh38]
Chr18:149089..77992274 [GRCh37]
Chr18:139089..76093265 [NCBI36]
Chr18:18p11.32-q23
pathogenic
GRCh38/hg38 18p11.32-11.31(chr18:2793029-3153983)x3 copy number gain See cases [RCV000134990] Chr18:2793029..3153983 [GRCh38]
Chr18:2793027..3153981 [GRCh37]
Chr18:2783027..3143981 [NCBI36]
Chr18:18p11.32-11.31
likely benign
GRCh38/hg38 18p11.32-11.31(chr18:148963-6086668)x1 copy number loss See cases [RCV000135846] Chr18:148963..6086668 [GRCh38]
Chr18:148963..6086667 [GRCh37]
Chr18:138963..6076667 [NCBI36]
Chr18:18p11.32-11.31
pathogenic
GRCh38/hg38 18p11.32-11.21(chr18:148963-14081888)x4 copy number gain See cases [RCV000135515] Chr18:148963..14081888 [GRCh38]
Chr18:148963..14081887 [GRCh37]
Chr18:138963..14071887 [NCBI36]
Chr18:18p11.32-11.21
pathogenic
GRCh38/hg38 18p11.32-11.21(chr18:2425507-11904118)x3 copy number gain See cases [RCV000136590] Chr18:2425507..11904118 [GRCh38]
Chr18:2425506..11904117 [GRCh37]
Chr18:2415506..11894117 [NCBI36]
Chr18:18p11.32-11.21
pathogenic
GRCh38/hg38 18p11.32-11.31(chr18:131500-4421014)x3 copy number gain See cases [RCV000135894] Chr18:131500..4421014 [GRCh38]
Chr18:131500..4421014 [GRCh37]
Chr18:121500..4411014 [NCBI36]
Chr18:18p11.32-11.31
pathogenic
GRCh38/hg38 18p11.32-11.22(chr18:180229-10762632)x1 copy number loss See cases [RCV000136860] Chr18:180229..10762632 [GRCh38]
Chr18:180229..10762630 [GRCh37]
Chr18:170229..10752630 [NCBI36]
Chr18:18p11.32-11.22
pathogenic
GRCh38/hg38 18p11.32-11.21(chr18:148963-10900517)x1 copy number loss See cases [RCV000137105] Chr18:148963..10900517 [GRCh38]
Chr18:148963..10900515 [GRCh37]
Chr18:138963..10890515 [NCBI36]
Chr18:18p11.32-11.21
pathogenic
GRCh38/hg38 18p11.32-11.21(chr18:118760-14089410)x4 copy number gain See cases [RCV000137456] Chr18:118760..14089410 [GRCh38]
Chr18:118760..14089409 [GRCh37]
Chr18:108760..14079409 [NCBI36]
Chr18:18p11.32-11.21
pathogenic|conflicting data from submitters
GRCh38/hg38 18p11.32-11.21(chr18:118760-14089410)x1 copy number loss See cases [RCV000137457] Chr18:118760..14089410 [GRCh38]
Chr18:118760..14089409 [GRCh37]
Chr18:108760..14079409 [NCBI36]
Chr18:18p11.32-11.21
pathogenic
GRCh38/hg38 18p11.32-11.21(chr18:133157-14089410)x1 copy number loss See cases [RCV000138101] Chr18:133157..14089410 [GRCh38]
Chr18:133157..14089409 [GRCh37]
Chr18:123157..14079409 [NCBI36]
Chr18:18p11.32-11.21
pathogenic
GRCh38/hg38 18p11.32-11.31(chr18:118760-4342182)x1 copy number loss See cases [RCV000137727] Chr18:118760..4342182 [GRCh38]
Chr18:118760..4342182 [GRCh37]
Chr18:108760..4332182 [NCBI36]
Chr18:18p11.32-11.31
likely pathogenic
GRCh38/hg38 18p11.32-q23(chr18:118760-80254946)x3 copy number gain See cases [RCV000138656] Chr18:118760..80254946 [GRCh38]
Chr18:118760..78012829 [GRCh37]
Chr18:108760..76113817 [NCBI36]
Chr18:18p11.32-q23
pathogenic|conflicting data from submitters
GRCh38/hg38 18p11.32-11.31(chr18:118760-6275718)x1 copy number loss See cases [RCV000139424] Chr18:118760..6275718 [GRCh38]
Chr18:118760..6275717 [GRCh37]
Chr18:108760..6265717 [NCBI36]
Chr18:18p11.32-11.31
pathogenic
GRCh38/hg38 18p11.32-q23(chr18:149089-80254936)x3 copy number gain See cases [RCV000139397] Chr18:149089..80254936 [GRCh38]
Chr18:149089..78012819 [GRCh37]
Chr18:139089..76113807 [NCBI36]
Chr18:18p11.32-q23
pathogenic
GRCh38/hg38 18p11.32-11.22(chr18:118760-8999132)x1 copy number loss See cases [RCV000139022] Chr18:118760..8999132 [GRCh38]
Chr18:118760..8999130 [GRCh37]
Chr18:108760..8989130 [NCBI36]
Chr18:18p11.32-11.22
pathogenic
GRCh38/hg38 18p11.32-11.21(chr18:136226-15175006) copy number gain See cases [RCV000140442] Chr18:136226..15175006 [GRCh38]
Chr18:136226..15175005 [GRCh37]
Chr18:126226..15165005 [NCBI36]
Chr18:18p11.32-11.21
pathogenic
GRCh38/hg38 18p11.32-11.31(chr18:149089-5276567)x1 copy number loss See cases [RCV000139503] Chr18:149089..5276567 [GRCh38]
Chr18:149089..5276566 [GRCh37]
Chr18:139089..5266566 [NCBI36]
Chr18:18p11.32-11.31
pathogenic
GRCh38/hg38 18p11.32-11.21(chr18:14316-14206225)x3 copy number gain See cases [RCV000141427] Chr18:14316..14206225 [GRCh38]
Chr18:14316..14206224 [GRCh37]
Chr18:4316..14196224 [NCBI36]
Chr18:18p11.32-11.21
pathogenic
GRCh38/hg38 18p11.32-11.31(chr18:85432-7094700)x1 copy number loss See cases [RCV000141428] Chr18:85432..7094700 [GRCh38]
Chr18:85432..7094699 [GRCh37]
Chr18:75432..7084699 [NCBI36]
Chr18:18p11.32-11.31
pathogenic
GRCh38/hg38 18p11.32-11.21(chr18:118760-15024003)x1 copy number loss See cases [RCV000141086] Chr18:118760..15024003 [GRCh38]
Chr18:118760..15024002 [GRCh37]
Chr18:108760..15014002 [NCBI36]
Chr18:18p11.32-11.21
pathogenic
GRCh38/hg38 18p11.32-11.31(chr18:136226-2994136)x1 copy number loss See cases [RCV000140922] Chr18:136226..2994136 [GRCh38]
Chr18:136226..2994134 [GRCh37]
Chr18:126226..2984134 [NCBI36]
Chr18:18p11.32-11.31
pathogenic
GRCh38/hg38 18p11.32-11.31(chr18:118760-4470508)x1 copy number loss See cases [RCV000140659] Chr18:118760..4470508 [GRCh38]
Chr18:118760..4470508 [GRCh37]
Chr18:108760..4460508 [NCBI36]
Chr18:18p11.32-11.31
pathogenic
GRCh38/hg38 18p11.32-11.21(chr18:48782-14978076)x1 copy number loss See cases [RCV000141627] Chr18:48782..14978076 [GRCh38]
Chr18:48782..14978075 [GRCh37]
Chr18:38782..14968075 [NCBI36]
Chr18:18p11.32-11.21
pathogenic
GRCh38/hg38 18p11.32-q23(chr18:136227-80256240)x3 copy number gain See cases [RCV000142244] Chr18:136227..80256240 [GRCh38]
Chr18:136227..78014123 [GRCh37]
Chr18:126227..76115097 [NCBI36]
Chr18:18p11.32-q23
pathogenic
GRCh38/hg38 18p11.32-11.21(chr18:958974-11954935)x1 copy number loss See cases [RCV000142225] Chr18:958974..11954935 [GRCh38]
Chr18:958975..11954934 [GRCh37]
Chr18:948975..11944934 [NCBI36]
Chr18:18p11.32-11.21
pathogenic
GRCh38/hg38 18p11.32-11.31(chr18:136226-4002983)x1 copy number loss See cases [RCV000142175] Chr18:136226..4002983 [GRCh38]
Chr18:136226..4002983 [GRCh37]
Chr18:126226..3992983 [NCBI36]
Chr18:18p11.32-11.31
pathogenic
GRCh38/hg38 18p11.32-11.31(chr18:149089-5458472)x3 copy number gain See cases [RCV000143058] Chr18:149089..5458472 [GRCh38]
Chr18:149089..5458471 [GRCh37]
Chr18:139089..5448471 [NCBI36]
Chr18:18p11.32-11.31
pathogenic
GRCh38/hg38 18p11.32-11.21(chr18:136226-15198991)x4 copy number gain See cases [RCV000143434] Chr18:136226..15198991 [GRCh38]
Chr18:136226..15198990 [GRCh37]
Chr18:126226..15188990 [NCBI36]
Chr18:18p11.32-11.21
pathogenic
GRCh38/hg38 18p11.32-11.21(chr18:118760-12642431)x3 copy number gain See cases [RCV000143194] Chr18:118760..12642431 [GRCh38]
Chr18:118760..12642430 [GRCh37]
Chr18:108760..12632430 [NCBI36]
Chr18:18p11.32-11.21
uncertain significance
GRCh38/hg38 18p11.32-q23(chr18:136226-80256240)x3 copy number gain See cases [RCV000143218] Chr18:136226..80256240 [GRCh38]
Chr18:136226..78014123 [GRCh37]
Chr18:126226..76115097 [NCBI36]
Chr18:18p11.32-q23
pathogenic
GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3 copy number gain See cases [RCV000148072] Chr18:148963..80252149 [GRCh38]
Chr18:148963..78010032 [GRCh37]
Chr18:138963..76111023 [NCBI36]
Chr18:18p11.32-q23
pathogenic
GRCh38/hg38 18p11.32-11.31(chr18:136226-4802275)x1 copy number loss See cases [RCV000143661] Chr18:136226..4802275 [GRCh38]
Chr18:136226..4802274 [GRCh37]
Chr18:126226..4792274 [NCBI36]
Chr18:18p11.32-11.31
pathogenic
GRCh38/hg38 18p11.32-11.21(chr18:136226-14337134)x3 copy number gain See cases [RCV000143477] Chr18:136226..14337134 [GRCh38]
Chr18:136226..14337133 [GRCh37]
Chr18:126226..14327133 [NCBI36]
Chr18:18p11.32-11.21
pathogenic
GRCh38/hg38 18p11.32-11.21(chr18:148963-14081888)x1 copy number loss See cases [RCV000148129] Chr18:148963..14081888 [GRCh38]
Chr18:148963..14081887 [GRCh37]
Chr18:138963..14071887 [NCBI36]
Chr18:18p11.32-11.21
pathogenic
GRCh37/hg19 18p11.32-q23(chr18:163323-78005236)x3 copy number gain See cases [RCV000240130] Chr18:163323..78005236 [GRCh37]
Chr18:18p11.32-q23
pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:136226-15157836)x4 copy number gain See cases [RCV000449034] Chr18:136226..15157836 [GRCh37]
Chr18:18p11.32-11.21
pathogenic
NM_014646.2(LPIN2):c.1868C>T (p.Pro623Leu) single nucleotide variant not provided [RCV000756311] Chr18:2925294 [GRCh38]
Chr18:2925292 [GRCh37]
Chr18:18p11.31
uncertain significance
NM_001375808.2(LPIN2):c.132_135dup (p.Ser46fs) microsatellite not provided [RCV000219594] Chr18:2960705..2960706 [GRCh38]
Chr18:2960703..2960704 [GRCh37]
Chr18:18p11.31
pathogenic
NM_014646.2(LPIN2):c.2399C>T (p.Pro800Leu) single nucleotide variant Majeed syndrome [RCV001363102]|not provided [RCV000215296] Chr18:2921576 [GRCh38]
Chr18:2921574 [GRCh37]
Chr18:18p11.31
uncertain significance
NM_014646.2(LPIN2):c.1550G>A (p.Arg517His) single nucleotide variant not provided [RCV000217293] Chr18:2929065 [GRCh38]
Chr18:2929063 [GRCh37]
Chr18:18p11.31
likely pathogenic
NM_014646.2(LPIN2):c.1274C>T (p.Ser425Leu) single nucleotide variant Majeed syndrome [RCV001346992]|not provided [RCV000213158] Chr18:2931438 [GRCh38]
Chr18:2931436 [GRCh37]
Chr18:18p11.31
uncertain significance
NM_014646.2(LPIN2):c.781C>G (p.His261Asp) single nucleotide variant not provided [RCV000219864] Chr18:2939521 [GRCh38]
Chr18:2939519 [GRCh37]
Chr18:18p11.31
uncertain significance
NM_014646.2(LPIN2):c.1735T>C (p.Ser579Pro) single nucleotide variant Majeed syndrome [RCV000271785]|not provided [RCV000755295]|not specified [RCV000222234] Chr18:2926781 [GRCh38]
Chr18:2926779 [GRCh37]
Chr18:18p11.31
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_014646.2(LPIN2):c.1489G>A (p.Glu497Lys) single nucleotide variant Majeed syndrome [RCV001087742]|not provided [RCV000213383] Chr18:2929126 [GRCh38]
Chr18:2929124 [GRCh37]
Chr18:18p11.31
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_014646.2(LPIN2):c.1631A>G (p.Glu544Gly) single nucleotide variant not provided [RCV000213484] Chr18:2927801 [GRCh38]
Chr18:2927799 [GRCh37]
Chr18:18p11.31
uncertain significance
NM_014646.2(LPIN2):c.1465A>C (p.Met489Leu) single nucleotide variant not provided [RCV000220332] Chr18:2929150 [GRCh38]
Chr18:2929148 [GRCh37]
Chr18:18p11.31
uncertain significance
NM_014646.2(LPIN2):c.2409G>C (p.Gln803His) single nucleotide variant Majeed syndrome [RCV000560055]|not provided [RCV000215545] Chr18:2921566 [GRCh38]
Chr18:2921564 [GRCh37]
Chr18:18p11.31
uncertain significance
NM_014646.2(LPIN2):c.1375C>G (p.Leu459Val) single nucleotide variant Majeed syndrome [RCV001360637]|not provided [RCV000218103] Chr18:2931337 [GRCh38]
Chr18:2931335 [GRCh37]
Chr18:18p11.31
uncertain significance
NM_014646.2(LPIN2):c.1492T>C (p.Phe498Leu) single nucleotide variant not provided [RCV000218346] Chr18:2929123 [GRCh38]
Chr18:2929121 [GRCh37]
Chr18:18p11.31
uncertain significance
NM_014646.2(LPIN2):c.2650C>T (p.Arg884Ter) single nucleotide variant Majeed syndrome [RCV000644771]|not specified [RCV000222683] Chr18:2920334 [GRCh38]
Chr18:2920332 [GRCh37]
Chr18:18p11.31
likely pathogenic|uncertain significance
NM_014646.2(LPIN2):c.608C>T (p.Ser203Phe) single nucleotide variant Majeed syndrome [RCV000313730]|not specified [RCV000216170] Chr18:2940695 [GRCh38]
Chr18:2940693 [GRCh37]
Chr18:18p11.31
benign|likely benign|uncertain significance
NM_014646.2(LPIN2):c.1115C>T (p.Ala372Val) single nucleotide variant not provided [RCV000216263] Chr18:2937745 [GRCh38]
Chr18:2937743 [GRCh37]
Chr18:18p11.31
uncertain significance
NM_014646.2(LPIN2):c.1745C>T (p.Pro582Leu) single nucleotide variant Majeed syndrome [RCV001300321]|not provided [RCV000216314] Chr18:2926771 [GRCh38]
Chr18:2926769 [GRCh37]
Chr18:18p11.31
uncertain significance
NM_014646.2(LPIN2):c.1099G>A (p.Ala367Thr) single nucleotide variant Majeed syndrome [RCV000348256]|not provided [RCV000216428] Chr18:2937761 [GRCh38]
Chr18:2937759 [GRCh37]
Chr18:18p11.31
uncertain significance
NM_014646.2(LPIN2):c.2171A>G (p.Asn724Ser) single nucleotide variant Majeed syndrome [RCV001060981]|not provided [RCV000218824] Chr18:2923778 [GRCh38]
Chr18:2923776 [GRCh37]
Chr18:18p11.31
uncertain significance
NM_014646.2(LPIN2):c.56A>G (p.Tyr19Cys) single nucleotide variant Majeed syndrome [RCV001126385]|not provided [RCV000214650] Chr18:2960785 [GRCh38]
Chr18:2960783 [GRCh37]
Chr18:18p11.31
uncertain significance
NM_014646.2(LPIN2):c.560C>T (p.Ser187Phe) single nucleotide variant not provided [RCV000223118] Chr18:2951085 [GRCh38]
Chr18:2951083 [GRCh37]
Chr18:18p11.31
uncertain significance
NM_014646.2(LPIN2):c.1514T>C (p.Ile505Thr) single nucleotide variant Majeed syndrome [RCV000644772]|not provided [RCV000214912] Chr18:2929101 [GRCh38]
Chr18:2929099 [GRCh37]
Chr18:18p11.31
uncertain significance
NM_014646.2(LPIN2):c.2625G>A (p.Pro875=) single nucleotide variant Majeed syndrome [RCV000368839]|not provided [RCV001200412]|not specified [RCV000214928] Chr18:2920359 [GRCh38]
Chr18:2920357 [GRCh37]
Chr18:18p11.31
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_014646.2(LPIN2):c.1781C>T (p.Pro594Leu) single nucleotide variant Majeed syndrome [RCV001217505]|not provided [RCV000219050] Chr18:2926735 [GRCh38]
Chr18:2926733 [GRCh37]
Chr18:18p11.31
uncertain significance
NM_014646.2(LPIN2):c.2621G>T (p.Cys874Phe) single nucleotide variant Majeed syndrome [RCV000274408]|not provided [RCV000658798]|not specified [RCV000219091] Chr18:2920363 [GRCh38]
Chr18:2920361 [GRCh37]
Chr18:18p11.31
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_014646.2(LPIN2):c.959C>T (p.Thr320Ile) single nucleotide variant not provided [RCV000221648] Chr18:2937901 [GRCh38]
Chr18:2937899 [GRCh37]
Chr18:18p11.31
uncertain significance
NM_014646.2(LPIN2):c.1814C>T (p.Ser605Leu) single nucleotide variant Majeed syndrome [RCV001314086]|not specified [RCV000215179] Chr18:2925348 [GRCh38]
Chr18:2925346 [GRCh37]
Chr18:18p11.31
uncertain significance
NM_014646.2(LPIN2):c.1046C>G (p.Pro349Arg) single nucleotide variant not provided [RCV000757434] Chr18:2937814 [GRCh38]
Chr18:2937812 [GRCh37]
Chr18:18p11.31
uncertain significance
NM_014646.2(LPIN2):c.1122A>G (p.Ser374=) single nucleotide variant Majeed syndrome [RCV000757435] Chr18:2937738 [GRCh38]
Chr18:2937736 [GRCh37]
Chr18:18p11.31
likely benign
NM_014646.2(LPIN2):c.766C>A (p.Leu256Ile) single nucleotide variant not provided [RCV000757436] Chr18:2939536 [GRCh38]
Chr18:2939534 [GRCh37]
Chr18:18p11.31
uncertain significance
NM_014646.2(LPIN2):c.1362C>T (p.Ser454=) single nucleotide variant Majeed syndrome [RCV001414909]|not provided [RCV000757437] Chr18:2931350 [GRCh38]
Chr18:2931348 [GRCh37]
Chr18:18p11.31
likely benign
NM_014646.2(LPIN2):c.289-16C>T single nucleotide variant not specified [RCV000235582] Chr18:2951372 [GRCh38]
Chr18:2951370 [GRCh37]
Chr18:18p11.31
likely benign
NM_014646.2(LPIN2):c.2547-11C>T single nucleotide variant Majeed syndrome [RCV001434591]|not specified [RCV000235667] Chr18:2920448 [GRCh38]
Chr18:2920446 [GRCh37]
Chr18:18p11.31
benign|likely benign
NM_014646.2(LPIN2):c.2610C>T (p.Ser870=) single nucleotide variant Majeed syndrome [RCV001000652]|not specified [RCV000236236] Chr18:2920374 [GRCh38]
Chr18:2920372 [GRCh37]
Chr18:18p11.31
likely benign
NM_014646.2(LPIN2):c.1621-18C>G single nucleotide variant not specified [RCV000236330] Chr18:2927829 [GRCh38]
Chr18:2927827 [GRCh37]
Chr18:18p11.31
likely benign
NM_014646.2(LPIN2):c.2443-14A>G single nucleotide variant not specified [RCV000236342] Chr18:2920895 [GRCh38]
Chr18:2920893 [GRCh37]
Chr18:18p11.31
likely benign
NM_014646.2(LPIN2):c.2088-7T>G single nucleotide variant Majeed syndrome [RCV001002521]|not specified [RCV000236437] Chr18:2923868 [GRCh38]
Chr18:2923866 [GRCh37]
Chr18:18p11.31
likely benign
NM_014646.2(LPIN2):c.1812C>A (p.Ser604=) single nucleotide variant not specified [RCV000236726] Chr18:2925350 [GRCh38]
Chr18:2925348 [GRCh37]
Chr18:18p11.31
likely benign
NM_014646.2(LPIN2):c.1867C>T (p.Pro623Ser) single nucleotide variant Majeed syndrome [RCV001001648]|not specified [RCV000236982] Chr18:2925295 [GRCh38]
Chr18:2925293 [GRCh37]
Chr18:18p11.31
benign|likely benign
NM_014646.2(LPIN2):c.1939-5A>G single nucleotide variant Majeed syndrome [RCV000644768]|not specified [RCV000237100] Chr18:2924551 [GRCh38]
Chr18:2924549 [GRCh37]
Chr18:18p11.31
likely benign|uncertain significance
GRCh37/hg19 18p11.32-11.21(chr18:163323-14103971)x1 copy number loss See cases [RCV000239938] Chr18:163323..14103971 [GRCh37]
Chr18:18p11.32-11.21
pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:163323-15102598)x4 copy number gain See cases [RCV000240029] Chr18:163323..15102598 [GRCh37]
Chr18:18p11.32-11.21
pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:14316-15328499)x1 copy number loss See cases [RCV000240281] Chr18:14316..15328499 [GRCh37]
Chr18:18p11.32-11.21
pathogenic
NC_000018.10:g.(?_2921533)_(2938037_?)del deletion Majeed syndrome [RCV000550940] Chr18:2921533..2938037 [GRCh38]
Chr18:18p11.31
likely pathogenic
NM_014646.2(LPIN2):c.*3C>T single nucleotide variant Majeed syndrome [RCV000335425]|not specified [RCV000249293] Chr18:2920290 [GRCh38]
Chr18:2920288 [GRCh37]
Chr18:18p11.31
benign
GRCh37/hg19 18p11.32-11.22(chr18:416490-8638370)x3 copy number gain See cases [RCV000240439] Chr18:416490..8638370 [GRCh37]
Chr18:18p11.32-11.22
pathogenic
GRCh37/hg19 18p11.32-11.22(chr18:14316-10784606)x1 copy number loss See cases [RCV000240555] Chr18:14316..10784606 [GRCh37]
Chr18:18p11.32-11.22
pathogenic
NM_014646.2(LPIN2):c.*158G>A single nucleotide variant Majeed syndrome [RCV000283904] Chr18:2920135 [GRCh38]
Chr18:2920133 [GRCh37]
Chr18:18p11.31
likely benign|uncertain significance
NM_014646.2(LPIN2):c.*1874C>G single nucleotide variant Majeed syndrome [RCV000275468] Chr18:2918419 [GRCh38]
Chr18:2918417 [GRCh37]
Chr18:18p11.31
uncertain significance
NM_014646.2(LPIN2):c.*2197_*2198del deletion Majeed syndrome [RCV000276493] Chr18:2918095..2918096 [GRCh38]
Chr18:2918093..2918094 [GRCh37]
Chr18:18p11.31
likely benign
NM_014646.2(LPIN2):c.-66C>T single nucleotide variant Majeed syndrome [RCV000261056] Chr18:3011774 [GRCh38]
Chr18:3011772 [GRCh37]
Chr18:18p11.31
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_014646.2(LPIN2):c.*823G>A single nucleotide variant Majeed syndrome [RCV000278140] Chr18:2919470 [GRCh38]
Chr18:2919468 [GRCh37]
Chr18:18p11.31
uncertain significance
NM_014646.2(LPIN2):c.1169-7del deletion Majeed syndrome [RCV000278223]|not provided [RCV000829002] Chr18:2934457 [GRCh38]
Chr18:2934455 [GRCh37]
Chr18:18p11.31
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_014646.2(LPIN2):c.*557G>A single nucleotide variant Majeed syndrome [RCV000262156] Chr18:2919736 [GRCh38]
Chr18:2919734 [GRCh37]
Chr18:18p11.31
benign|likely benign
NM_014646.2(LPIN2):c.*2241T>C single nucleotide variant Majeed syndrome [RCV000297680] Chr18:2918052 [GRCh38]
Chr18:2918050 [GRCh37]
Chr18:18p11.31
benign|likely benign
NM_014646.2(LPIN2):c.-173A>T single nucleotide variant Majeed syndrome [RCV000281045] Chr18:3011881 [GRCh38]
Chr18:3011879 [GRCh37]
Chr18:18p11.31
uncertain significance
NM_014646.2(LPIN2):c.*1502G>A single nucleotide variant Majeed syndrome [RCV000281483] Chr18:2918791 [GRCh38]
Chr18:2918789 [GRCh37]
Chr18:18p11.31
benign|uncertain significance
NM_014646.2(LPIN2):c.*1220G>A single nucleotide variant Majeed syndrome [RCV000280188] Chr18:2919073 [GRCh38]
Chr18:2919071 [GRCh37]
Chr18:18p11.31
uncertain significance
NM_014646.2(LPIN2):c.*2412C>T single nucleotide variant Majeed syndrome [RCV000343157] Chr18:2917881 [GRCh38]
Chr18:2917879 [GRCh37]
Chr18:18p11.31
uncertain significance
NM_014646.2(LPIN2):c.*950A>C single nucleotide variant Majeed syndrome [RCV000270702] Chr18:2919343 [GRCh38]
Chr18:2919341 [GRCh37]
Chr18:18p11.31
benign|likely benign
NM_014646.2(LPIN2):c.*2822C>T single nucleotide variant Majeed syndrome [RCV000356854] Chr18:2917471 [GRCh38]
Chr18:2917469 [GRCh37]
Chr18:18p11.31
benign|likely benign
NM_014646.2(LPIN2):c.*2787C>G single nucleotide variant Majeed syndrome [RCV000259245] Chr18:2917506 [GRCh38]
Chr18:2917504 [GRCh37]
Chr18:18p11.31
uncertain significance
NM_014646.2(LPIN2):c.1839C>T (p.Leu613=) single nucleotide variant Majeed syndrome [RCV000270551] Chr18:2925323 [GRCh38]
Chr18:2925321 [GRCh37]
Chr18:18p11.31
uncertain significance
NM_014646.2(LPIN2):c.-36C>G single nucleotide variant Majeed syndrome [RCV000320761]|not specified [RCV000427996] Chr18:3011744 [GRCh38]
Chr18:3011742 [GRCh37]
Chr18:18p11.31
benign|likely benign
NM_014646.2(LPIN2):c.*1742A>G single nucleotide variant Majeed syndrome [RCV000366640] Chr18:2918551 [GRCh38]
Chr18:2918549 [GRCh37]
Chr18:18p11.31
uncertain significance
NM_014646.2(LPIN2):c.*2076C>A single nucleotide variant Majeed syndrome [RCV000367626] Chr18:2918217 [GRCh38]
Chr18:2918215 [GRCh37]
Chr18:18p11.31
likely benign|uncertain significance
NM_014646.2(LPIN2):c.*1026C>T single nucleotide variant Majeed syndrome [RCV000310565] Chr18:2919267 [GRCh38]
Chr18:2919265 [GRCh37]
Chr18:18p11.31
uncertain significance
NM_014646.2(LPIN2):c.*1077C>G single nucleotide variant Majeed syndrome [RCV000311583] Chr18:2919216 [GRCh38]
Chr18:2919214 [GRCh37]
Chr18:18p11.31
likely benign|uncertain significance
NM_014646.2(LPIN2):c.590+6A>G single nucleotide variant Majeed syndrome [RCV000363711] Chr18:2951049 [GRCh38]
Chr18:2951047 [GRCh37]
Chr18:18p11.31
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_014646.2(LPIN2):c.-10+12T>C single nucleotide variant Majeed syndrome [RCV000364740]|not specified [RCV000612287] Chr18:3011706 [GRCh38]
Chr18:3011704 [GRCh37]
Chr18:18p11.31
likely benign|uncertain significance
NM_014646.2(LPIN2):c.1348G>A (p.Ala450Thr) single nucleotide variant Majeed syndrome [RCV000765412]|not provided [RCV000274345] Chr18:2931364 [GRCh38]
Chr18:2931362 [GRCh37]
Chr18:18p11.31
uncertain significance
NM_014646.2(LPIN2):c.*2999C>A single nucleotide variant Majeed syndrome [RCV000346758] Chr18:2917294 [GRCh38]
Chr18:2917292 [GRCh37]
Chr18:18p11.31
uncertain significance
NM_014646.2(LPIN2):c.*251C>T single nucleotide variant Majeed syndrome [RCV000347184] Chr18:2920042 [GRCh38]
Chr18:2920040 [GRCh37]
Chr18:18p11.31
uncertain significance
NM_014646.2(LPIN2):c.2671G>A (p.Asp891Asn) single nucleotide variant Majeed syndrome [RCV000395862]|not provided [RCV000480316] Chr18:2920313 [GRCh38]
Chr18:2920311 [GRCh37]
Chr18:18p11.31
conflicting interpretations of pathogenicity|uncertain significance
NM_014646.2(LPIN2):c.*99C>T single nucleotide variant Majeed syndrome [RCV000395864] Chr18:2920194 [GRCh38]
Chr18:2920192 [GRCh37]
Chr18:18p11.31
benign|likely benign
NM_014646.2(LPIN2):c.*2390C>T single nucleotide variant Majeed syndrome [RCV000396056] Chr18:2917903 [GRCh38]
Chr18:2917901 [GRCh37]
Chr18:18p11.31
likely benign|uncertain significance
NM_014646.2(LPIN2):c.*2691_*2696delGAAAAA microsatellite Majeed syndrome [RCV000277434] Chr18:2917597..2917602 [GRCh38]
Chr18:2917595..2917600 [GRCh37]
Chr18:18p11.31
uncertain significance
NM_014646.2(LPIN2):c.*2103G>A single nucleotide variant Majeed syndrome [RCV000315309] Chr18:2918190 [GRCh38]
Chr18:2918188 [GRCh37]
Chr18:18p11.31
likely benign|uncertain significance
NM_014646.2(LPIN2):c.*1052T>C single nucleotide variant Majeed syndrome [RCV000368538] Chr18:2919241 [GRCh38]
Chr18:2919239 [GRCh37]
Chr18:18p11.31
benign|likely benign
NM_014646.2(LPIN2):c.*796T>C single nucleotide variant Majeed syndrome [RCV000348749] Chr18:2919497 [GRCh38]
Chr18:2919495 [GRCh37]
Chr18:18p11.31
uncertain significance
NM_014646.2(LPIN2):c.*723A>G single nucleotide variant Majeed syndrome [RCV000397884] Chr18:2919570 [GRCh38]
Chr18:2919568 [GRCh37]
Chr18:18p11.31
benign|likely benign
NM_014646.2(LPIN2):c.*2946G>A single nucleotide variant Majeed syndrome [RCV000397899] Chr18:2917347 [GRCh38]
Chr18:2917345 [GRCh37]
Chr18:18p11.31
benign|likely benign
NM_014646.2(LPIN2):c.*3217A>G single nucleotide variant Majeed syndrome [RCV000316606] Chr18:2917076 [GRCh38]
Chr18:2917074 [GRCh37]
Chr18:18p11.31
uncertain significance
NM_014646.2(LPIN2):c.*703dup duplication Majeed syndrome [RCV000307770] Chr18:2919589..2919590 [GRCh38]
Chr18:2919587..2919588 [GRCh37]
Chr18:18p11.31
uncertain significance
NM_014646.2(LPIN2):c.*2890_*2893dup duplication Majeed syndrome [RCV000305376] Chr18:2917399..2917400 [GRCh38]
Chr18:2917397..2917398 [GRCh37]
Chr18:18p11.31
uncertain significance
NM_014646.2(LPIN2):c.*1514G>C single nucleotide variant Majeed syndrome [RCV000321377] Chr18:2918779 [GRCh38]
Chr18:2918777 [GRCh37]
Chr18:18p11.31
uncertain significance
NM_014646.2(LPIN2):c.1456+4C>G single nucleotide variant Majeed syndrome [RCV000322162] Chr18:2931252 [GRCh38]
Chr18:2931250 [GRCh37]
Chr18:18p11.31
uncertain significance
NM_014646.2(LPIN2):c.*3139A>G single nucleotide variant Majeed syndrome [RCV000373518] Chr18:2917154 [GRCh38]
Chr18:2917152 [GRCh37]
Chr18:18p11.31
benign
NM_014646.2(LPIN2):c.*947dup duplication Majeed syndrome [RCV000323381] Chr18:2919345..2919346 [GRCh38]
Chr18:2919343..2919344 [GRCh37]
Chr18:18p11.31
benign
NM_014646.2(LPIN2):c.*362T>C single nucleotide variant Majeed syndrome [RCV000274224] Chr18:2919931 [GRCh38]
Chr18:2919929 [GRCh37]
Chr18:18p11.31
uncertain significance
NM_014646.2(LPIN2):c.*833G>A single nucleotide variant Majeed syndrome [RCV000375275] Chr18:2919460 [GRCh38]
Chr18:2919458 [GRCh37]
Chr18:18p11.31
uncertain significance
NM_014646.2(LPIN2):c.*1027G>A single nucleotide variant Majeed syndrome [RCV000401320] Chr18:2919266 [GRCh38]
Chr18:2919264 [GRCh37]
Chr18:18p11.31
uncertain significance
NM_014646.2(LPIN2):c.*1622T>C single nucleotide variant Majeed syndrome [RCV000326114] Chr18:2918671 [GRCh38]
Chr18:2918669 [GRCh37]
Chr18:18p11.31
benign|uncertain significance
NM_014646.2(LPIN2):c.1404C>T (p.Asp468=) single nucleotide variant Majeed syndrome [RCV000376887] Chr18:2931308 [GRCh38]
Chr18:2931306 [GRCh37]
Chr18:18p11.31
conflicting interpretations of pathogenicity|uncertain significance
NM_014646.2(LPIN2):c.-160C>T single nucleotide variant Majeed syndrome [RCV000375456] Chr18:3011868 [GRCh38]
Chr18:3011866 [GRCh37]
Chr18:18p11.31
uncertain significance
NM_014646.2(LPIN2):c.*1514G>A single nucleotide variant Majeed syndrome [RCV000378243] Chr18:2918779 [GRCh38]
Chr18:2918777 [GRCh37]
Chr18:18p11.31
uncertain significance
NM_014646.2(LPIN2):c.*1586G>A single nucleotide variant Majeed syndrome [RCV000378357] Chr18:2918707 [GRCh38]
Chr18:2918705 [GRCh37]
Chr18:18p11.31
likely benign|uncertain significance
NM_014646.2(LPIN2):c.*2493C>G single nucleotide variant Majeed syndrome [RCV000330047] Chr18:2917800 [GRCh38]
Chr18:2917798 [GRCh37]
Chr18:18p11.31
benign|likely benign
NM_014646.2(LPIN2):c.*666C>T single nucleotide variant Majeed syndrome [RCV000402016] Chr18:2919627 [GRCh38]
Chr18:2919625 [GRCh37]
Chr18:18p11.31
uncertain significance
NM_014646.2(LPIN2):c.1796C>T (p.Pro599Leu) single nucleotide variant Majeed syndrome [RCV000325500]|not provided [RCV000755297] Chr18:2925366 [GRCh38]
Chr18:2925364 [GRCh37]
Chr18:18p11.31
uncertain significance
NM_014646.2(LPIN2):c.1395C>T (p.Asp465=) single nucleotide variant Majeed syndrome [RCV000287112] Chr18:2931317 [GRCh38]
Chr18:2931315 [GRCh37]
Chr18:18p11.31
conflicting interpretations of pathogenicity|uncertain significance
NM_014646.2(LPIN2):c.-192C>T single nucleotide variant Majeed syndrome [RCV000331530] Chr18:3011900 [GRCh38]
Chr18:3011898 [GRCh37]
Chr18:18p11.31
uncertain significance
NM_014646.2(LPIN2):c.*358G>A single nucleotide variant Majeed syndrome [RCV000331694] Chr18:2919935 [GRCh38]
Chr18:2919933 [GRCh37]
Chr18:18p11.31
likely benign|uncertain significance
NM_014646.2(LPIN2):c.-209G>A single nucleotide variant Majeed syndrome [RCV000386034] Chr18:3011917 [GRCh38]
Chr18:3011915 [GRCh37]
Chr18:18p11.31
uncertain significance
NM_014646.2(LPIN2):c.1783G>C (p.Ala595Pro) single nucleotide variant Majeed syndrome [RCV000384753] Chr18:2926733 [GRCh38]
Chr18:2926731 [GRCh37]
Chr18:18p11.31
uncertain significance
NM_014646.2(LPIN2):c.*897T>G single nucleotide variant Majeed syndrome [RCV000265486] Chr18:2919396 [GRCh38]
Chr18:2919394 [GRCh37]
Chr18:18p11.31
uncertain significance
NM_014646.2(LPIN2):c.*2833_*2834delCA microsatellite Majeed syndrome [RCV000265558] Chr18:2917459..2917460 [GRCh38]
Chr18:2917457..2917458 [GRCh37]
Chr18:18p11.31
uncertain significance
NM_014646.2(LPIN2):c.-25A>G single nucleotide variant Majeed syndrome [RCV000265658] Chr18:3011733 [GRCh38]
Chr18:3011731 [GRCh37]
Chr18:18p11.31
uncertain significance
NM_014646.2(LPIN2):c.1132C>T (p.Pro378Ser) single nucleotide variant Majeed syndrome [RCV000312207]|not provided [RCV000482609] Chr18:2937728 [GRCh38]
Chr18:2937726 [GRCh37]
Chr18:18p11.31
uncertain significance
NM_014646.2(LPIN2):c.*903T>A single nucleotide variant Majeed syndrome [RCV000357840] Chr18:2919390 [GRCh38]
Chr18:2919388 [GRCh37]
Chr18:18p11.31
uncertain significance
NM_014646.2(LPIN2):c.*3015T>C single nucleotide variant Majeed syndrome [RCV000293925] Chr18:2917278 [GRCh38]
Chr18:2917276 [GRCh37]
Chr18:18p11.31
benign|uncertain significance
NM_014646.2(LPIN2):c.*1462A>G single nucleotide variant Majeed syndrome [RCV000338665] Chr18:2918831 [GRCh38]
Chr18:2918829 [GRCh37]
Chr18:18p11.31
uncertain significance
NM_014646.2(LPIN2):c.*1418G>A single nucleotide variant Majeed syndrome [RCV000394187] Chr18:2918875 [GRCh38]
Chr18:2918873 [GRCh37]
Chr18:18p11.31
uncertain significance
NM_014646.2(LPIN2):c.*2866A>C single nucleotide variant Majeed syndrome [RCV000357933] Chr18:2917427 [GRCh38]
Chr18:2917425 [GRCh37]
Chr18:18p11.31
uncertain significance
NM_014646.2(LPIN2):c.*797T>G single nucleotide variant Majeed syndrome [RCV000295689] Chr18:2919496 [GRCh38]
Chr18:2919494 [GRCh37]
Chr18:18p11.31
benign|likely benign
NM_014646.2(LPIN2):c.1247C>T (p.Ala416Val) single nucleotide variant Majeed syndrome [RCV000341576]|not provided [RCV000481532] Chr18:2934372 [GRCh38]
Chr18:2934370 [GRCh37]
Chr18:18p11.31
uncertain significance
NM_014646.2(LPIN2):c.1168+6C>T single nucleotide variant Majeed syndrome [RCV000396304]|not provided [RCV000788235]|not specified [RCV000601376] Chr18:2937686 [GRCh38]
Chr18:2937684 [GRCh37]
Chr18:18p11.31
likely benign|uncertain significance
NM_014646.2(LPIN2):c.*637G>A single nucleotide variant Majeed syndrome [RCV000359330] Chr18:2919656 [GRCh38]
Chr18:2919654 [GRCh37]
Chr18:18p11.31
benign|likely benign
NM_014646.2(LPIN2):c.*685T>A single nucleotide variant Majeed syndrome [RCV000360188] Chr18:2919608 [GRCh38]
Chr18:2919606 [GRCh37]
Chr18:18p11.31
benign
NM_014646.2(LPIN2):c.*501T>C single nucleotide variant Majeed syndrome [RCV000261113] Chr18:2919792 [GRCh38]
Chr18:2919790 [GRCh37]
Chr18:18p11.31
benign|likely benign
NM_014646.2(LPIN2):c.*2924del deletion Majeed syndrome [RCV000345529] Chr18:2917369 [GRCh38]
Chr18:2917367 [GRCh37]
Chr18:18p11.31
likely benign
NM_014646.2(LPIN2):c.353T>C (p.Ile118Thr) single nucleotide variant Majeed syndrome [RCV000400120]|not provided [RCV001507395] Chr18:2951292 [GRCh38]
Chr18:2951290 [GRCh37]
Chr18:18p11.31
uncertain significance
NM_014646.2(LPIN2):c.1168+11G>C single nucleotide variant Majeed syndrome [RCV000337947] Chr18:2937681 [GRCh38]
Chr18:2937679 [GRCh37]
Chr18:18p11.31
benign|likely benign
NM_014646.2(LPIN2):c.*151G>A single nucleotide variant Majeed syndrome [RCV000339006] Chr18:2920142 [GRCh38]
Chr18:2920140 [GRCh37]
Chr18:18p11.31
likely benign|uncertain significance
NM_014646.2(LPIN2):c.-37C>G single nucleotide variant Majeed syndrome [RCV000361385]|not specified [RCV000417764] Chr18:3011745 [GRCh38]
Chr18:3011743 [GRCh37]
Chr18:18p11.31
benign|likely benign
NM_014646.2(LPIN2):c.*3068A>T single nucleotide variant Majeed syndrome [RCV000386096] Chr18:2917225 [GRCh38]
Chr18:2917223 [GRCh37]
Chr18:18p11.31
benign
NM_014646.2(LPIN2):c.*3280C>T single nucleotide variant Majeed syndrome [RCV000263628] Chr18:2917013 [GRCh38]
Chr18:2917011 [GRCh37]
Chr18:18p11.31
uncertain significance
NM_014646.2(LPIN2):c.2657C>T (p.Pro886Leu) single nucleotide variant Majeed syndrome [RCV000300063] Chr18:2920327 [GRCh38]
Chr18:2920325 [GRCh37]
Chr18:18p11.31
uncertain significance
NM_014646.2(LPIN2):c.*2923C>T single nucleotide variant Majeed syndrome [RCV000401754] Chr18:2917370 [GRCh38]
Chr18:2917368 [GRCh37]
Chr18:18p11.31
benign|likely benign
NM_014646.2(LPIN2):c.*792G>C single nucleotide variant Majeed syndrome [RCV000403599] Chr18:2919501 [GRCh38]
Chr18:2919499 [GRCh37]
Chr18:18p11.31
uncertain significance
NM_014646.2(LPIN2):c.*813A>C single nucleotide variant Majeed syndrome [RCV000316864] Chr18:2919480 [GRCh38]
Chr18:2919478 [GRCh37]
Chr18:18p11.31
uncertain significance
NM_014646.2(LPIN2):c.*805C>G single nucleotide variant Majeed syndrome [RCV000387681] Chr18:2919488 [GRCh38]
Chr18:2919486 [GRCh37]
Chr18:18p11.31
uncertain significance
NM_014646.2(LPIN2):c.*657A>C single nucleotide variant Majeed syndrome [RCV000302241] Chr18:2919636 [GRCh38]
Chr18:2919634 [GRCh37]
Chr18:18p11.31
benign
NM_014646.2(LPIN2):c.*1179G>A single nucleotide variant Majeed syndrome [RCV000351567] Chr18:2919114 [GRCh38]
Chr18:2919112 [GRCh37]
Chr18:18p11.31
likely benign|uncertain significance
NM_014646.2(LPIN2):c.*1691A>G single nucleotide variant Majeed syndrome [RCV000268744] Chr18:2918602 [GRCh38]
Chr18:2918600 [GRCh37]
Chr18:18p11.31
benign|likely benign
NM_014646.2(LPIN2):c.*2934C>T single nucleotide variant Majeed syndrome [RCV000306995] Chr18:2917359 [GRCh38]
Chr18:2917357 [GRCh37]
Chr18:18p11.31
benign
NM_014646.2(LPIN2):c.*1021G>A single nucleotide variant Majeed syndrome [RCV000362932] Chr18:2919272 [GRCh38]
Chr18:2919270 [GRCh37]
Chr18:18p11.31
uncertain significance
NM_014646.2(LPIN2):c.-125G>A single nucleotide variant Majeed syndrome [RCV000316308] Chr18:3011833 [GRCh38]
Chr18:3011831 [GRCh37]
Chr18:18p11.31
uncertain significance
NM_014646.2(LPIN2):c.*217G>T single nucleotide variant Majeed syndrome [RCV000383054] Chr18:2920076 [GRCh38]
Chr18:2920074 [GRCh37]
Chr18:18p11.31
uncertain significance
NM_014646.2(LPIN2):c.*2759A>C single nucleotide variant Majeed syndrome [RCV000316789] Chr18:2917534 [GRCh38]
Chr18:2917532 [GRCh37]
Chr18:18p11.31
uncertain significance
NM_014646.2(LPIN2):c.*493G>A single nucleotide variant Majeed syndrome [RCV000332768] Chr18:2919800 [GRCh38]
Chr18:2919798 [GRCh37]
Chr18:18p11.31
uncertain significance
NM_014646.2(LPIN2):c.*725G>A single nucleotide variant Majeed syndrome [RCV000347615] Chr18:2919568 [GRCh38]
Chr18:2919566 [GRCh37]
Chr18:18p11.31
uncertain significance
NM_014646.2(LPIN2):c.*275C>G single nucleotide variant Majeed syndrome [RCV000383920] Chr18:2920018 [GRCh38]
Chr18:2920016 [GRCh37]
Chr18:18p11.31
uncertain significance
NM_014646.2(LPIN2):c.*834G>A single nucleotide variant Majeed syndrome [RCV000318296] Chr18:2919459 [GRCh38]
Chr18:2919457 [GRCh37]
Chr18:18p11.31
uncertain significance
NM_014646.2(LPIN2):c.2211C>T (p.Ala737=) single nucleotide variant Majeed syndrome [RCV000369798]|not provided [RCV000932033] Chr18:2922163 [GRCh38]
Chr18:2922161 [GRCh37]
Chr18:18p11.31
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_014646.2(LPIN2):c.*2724A>G single nucleotide variant Majeed syndrome [RCV000388167] Chr18:2917569 [GRCh38]
Chr18:2917567 [GRCh37]
Chr18:18p11.31
uncertain significance
NM_014646.2(LPIN2):c.*448C>T single nucleotide variant Majeed syndrome [RCV000389608] Chr18:2919845 [GRCh38]
Chr18:2919843 [GRCh37]
Chr18:18p11.31
uncertain significance
NM_014646.2(LPIN2):c.*506C>T single nucleotide variant Majeed syndrome [RCV000353720] Chr18:2919787 [GRCh38]
Chr18:2919785 [GRCh37]
Chr18:18p11.31
uncertain significance
NM_014646.2(LPIN2):c.*252G>A single nucleotide variant Majeed syndrome [RCV000287590] Chr18:2920041 [GRCh38]
Chr18:2920039 [GRCh37]
Chr18:18p11.31
uncertain significance
NM_014646.2(LPIN2):c.*1559A>G single nucleotide variant Majeed syndrome [RCV000287355] Chr18:2918734 [GRCh38]
Chr18:2918732 [GRCh37]
Chr18:18p11.31
uncertain significance
NM_014646.2(LPIN2):c.*2216C>A single nucleotide variant Majeed syndrome [RCV000354774] Chr18:2918077 [GRCh38]
Chr18:2918075 [GRCh37]
Chr18:18p11.31
uncertain significance
NM_014646.2(LPIN2):c.1171G>A (p.Val391Ile) single nucleotide variant Majeed syndrome [RCV000372888] Chr18:2934448 [GRCh38]
Chr18:2934446 [GRCh37]
Chr18:18p11.31
uncertain significance
NM_014646.2(LPIN2):c.*84A>G single nucleotide variant Majeed syndrome [RCV000299063] Chr18:2920209 [GRCh38]
Chr18:2920207 [GRCh37]
Chr18:18p11.31
uncertain significance
NM_014646.2(LPIN2):c.*2830C>T single nucleotide variant Majeed syndrome [RCV000299622] Chr18:2917463 [GRCh38]
Chr18:2917461 [GRCh37]
Chr18:18p11.31
uncertain significance
NM_014646.2(LPIN2):c.*1126G>A single nucleotide variant Majeed syndrome [RCV000394186] Chr18:2919167 [GRCh38]
Chr18:2919165 [GRCh37]
Chr18:18p11.31
uncertain significance
NM_014646.2(LPIN2):c.932T>A (p.Val311Asp) single nucleotide variant Majeed syndrome [RCV000396313] Chr18:2937928 [GRCh38]
Chr18:2937926 [GRCh37]
Chr18:18p11.31
uncertain significance
NM_014646.2(LPIN2):c.*767A>G single nucleotide variant Majeed syndrome [RCV000290368] Chr18:2919526 [GRCh38]
Chr18:2919524 [GRCh37]
Chr18:18p11.31
uncertain significance
NM_014646.2(LPIN2):c.*507T>C single nucleotide variant Majeed syndrome [RCV000300991] Chr18:2919786 [GRCh38]
Chr18:2919784 [GRCh37]
Chr18:18p11.31
uncertain significance
NM_014646.2(LPIN2):c.*1827G>A single nucleotide variant Majeed syndrome [RCV000328270] Chr18:2918466 [GRCh38]
Chr18:2918464 [GRCh37]
Chr18:18p11.31
uncertain significance
NM_014646.2(LPIN2):c.1797G>A (p.Pro599=) single nucleotide variant Majeed syndrome [RCV001000656]|not provided [RCV000596089] Chr18:2925365 [GRCh38]
Chr18:2925363 [GRCh37]
Chr18:18p11.31
likely benign|uncertain significance
NM_014646.2(LPIN2):c.501G>C (p.Lys167Asn) single nucleotide variant not provided [RCV000585139] Chr18:2951144 [GRCh38]
Chr18:2951142 [GRCh37]
Chr18:18p11.31
uncertain significance
GRCh37/hg19 18p11.32-11.21(chr18:13034-15375878)x1 copy number loss See cases [RCV000599143] Chr18:13034..15375878 [GRCh37]
Chr18:18p11.32-11.21
pathogenic
NM_014646.2(LPIN2):c.1299C>T (p.Pro433=) single nucleotide variant not specified [RCV000605773] Chr18:2931413 [GRCh38]
Chr18:2931411 [GRCh37]
Chr18:18p11.31
likely benign
NM_014646.2(LPIN2):c.970A>T (p.Ile324Leu) single nucleotide variant Majeed syndrome [RCV000539036] Chr18:2937890 [GRCh38]
Chr18:2937888 [GRCh37]
Chr18:18p11.31
uncertain significance
NM_014646.2(LPIN2):c.1329C>A (p.Ser443=) single nucleotide variant Majeed syndrome [RCV000541453] Chr18:2931383 [GRCh38]
Chr18:2931381 [GRCh37]
Chr18:18p11.31
likely benign
NM_014646.2(LPIN2):c.1720T>A (p.Ser574Thr) single nucleotide variant not specified [RCV000414093] Chr18:2926796 [GRCh38]
Chr18:2926794 [GRCh37]
Chr18:18p11.31
uncertain significance
GRCh37/hg19 18p11.32-11.31(chr18:136226-3297143)x1 copy number loss See cases [RCV000449083] Chr18:136226..3297143 [GRCh37]
Chr18:18p11.32-11.31
pathogenic
GRCh37/hg19 18p11.32-11.31(chr18:136226-3547887)x3 copy number gain See cases [RCV000446088] Chr18:136226..3547887 [GRCh37]
Chr18:18p11.32-11.31
pathogenic
GRCh37/hg19 18p11.32-11.22(chr18:136226-9789368)x3 copy number gain See cases [RCV000446104] Chr18:136226..9789368 [GRCh37]
Chr18:18p11.32-11.22
pathogenic
GRCh37/hg19 18p11.32-11.31(chr18:2741687-2918018)x3 copy number gain See cases [RCV000446143] Chr18:2741687..2918018 [GRCh37]
Chr18:18p11.32-11.31
benign
GRCh37/hg19 18p11.32-q23(chr18:136226-78014123)x3 copy number gain See cases [RCV000446047] Chr18:136226..78014123 [GRCh37]
Chr18:18p11.32-q23
pathogenic
GRCh37/hg19 18p11.32-q23(chr18:163323-78005185)x3 copy number gain See cases [RCV000445851] Chr18:163323..78005185 [GRCh37]
Chr18:18p11.32-q23
pathogenic
NM_014646.2(LPIN2):c.2327+9C>A single nucleotide variant not specified [RCV000431765] Chr18:2922038 [GRCh38]
Chr18:2922036 [GRCh37]
Chr18:18p11.31
likely benign
NM_014646.2(LPIN2):c.2535A>C (p.Gly845=) single nucleotide variant Majeed syndrome [RCV000907144]|not specified [RCV000434886] Chr18:2920789 [GRCh38]
Chr18:2920787 [GRCh37]
Chr18:18p11.31
likely benign|conflicting interpretations of pathogenicity
NM_014646.2(LPIN2):c.2400G>A (p.Pro800=) single nucleotide variant Majeed syndrome [RCV001493085]|not provided [RCV000912607]|not specified [RCV000438518] Chr18:2921575 [GRCh38]
Chr18:2921573 [GRCh37]
Chr18:18p11.31
likely benign
NM_014646.2(LPIN2):c.2371C>T (p.Leu791=) single nucleotide variant Majeed syndrome [RCV000644777]|not specified [RCV000418733] Chr18:2921604 [GRCh38]
Chr18:2921602 [GRCh37]
Chr18:18p11.31
likely benign
NM_014646.2(LPIN2):c.2327+14A>G single nucleotide variant not specified [RCV000425030] Chr18:2922033 [GRCh38]
Chr18:2922031 [GRCh37]
Chr18:18p11.31
likely benign
NM_014646.2(LPIN2):c.1281C>T (p.Pro427=) single nucleotide variant not provided [RCV000919612]|not specified [RCV000439623] Chr18:2931431 [GRCh38]
Chr18:2931429 [GRCh37]
Chr18:18p11.31
likely benign
NM_014646.2(LPIN2):c.540A>C (p.Thr180=) single nucleotide variant not specified [RCV000419518] Chr18:2951105 [GRCh38]
Chr18:2951103 [GRCh37]
Chr18:18p11.31
likely benign
NM_014646.2(LPIN2):c.1347C>T (p.Ser449=) single nucleotide variant not specified [RCV000429323] Chr18:2931365 [GRCh38]
Chr18:2931363 [GRCh37]
Chr18:18p11.31
likely benign
NM_014646.2(LPIN2):c.1876C>T (p.Pro626Ser) single nucleotide variant Majeed syndrome [RCV000999999]|not provided [RCV001572772]|not specified [RCV000419753] Chr18:2925286 [GRCh38]
Chr18:2925284 [GRCh37]
Chr18:18p11.31
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_014646.2(LPIN2):c.2427T>C (p.Phe809=) single nucleotide variant not specified [RCV000429493] Chr18:2921548 [GRCh38]
Chr18:2921546 [GRCh37]
Chr18:18p11.31
likely benign
NM_014646.2(LPIN2):c.446C>T (p.Pro149Leu) single nucleotide variant Majeed syndrome [RCV001000957]|not specified [RCV000436334] Chr18:2951199 [GRCh38]
Chr18:2951197 [GRCh37]
Chr18:18p11.31
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_014646.2(LPIN2):c.1169-3C>T single nucleotide variant Majeed syndrome [RCV000553003]|not specified [RCV000429802] Chr18:2934453 [GRCh38]
Chr18:2934451 [GRCh37]
Chr18:18p11.31
likely benign|uncertain significance
GRCh37/hg19 18p11.32-11.21(chr18:136226-15198990)x4 copy number gain See cases [RCV000445796] Chr18:136226..15198990 [GRCh37]
Chr18:18p11.32-11.21
pathogenic
NM_014646.2(LPIN2):c.2484A>G (p.Arg828=) single nucleotide variant not specified [RCV000437061] Chr18:2920840 [GRCh38]
Chr18:2920838 [GRCh37]
Chr18:18p11.31
likely benign
NM_014646.2(LPIN2):c.1815G>A (p.Ser605=) single nucleotide variant Majeed syndrome [RCV001430456]|not provided [RCV000755294]|not specified [RCV000440926] Chr18:2925347 [GRCh38]
Chr18:2925345 [GRCh37]
Chr18:18p11.31
benign|likely benign|conflicting interpretations of pathogenicity
GRCh37/hg19 18p11.32-11.21(chr18:136226-14983938)x1 copy number loss See cases [RCV000449008] Chr18:136226..14983938 [GRCh37]
Chr18:18p11.32-11.21
pathogenic
GRCh37/hg19 18p11.32-11.31(chr18:136226-4464955)x1 copy number loss See cases [RCV000448448] Chr18:136226..4464955 [GRCh37]
Chr18:18p11.32-11.31
pathogenic
GRCh37/hg19 18p11.32-q11.1(chr18:136226-18534784)x4 copy number gain See cases [RCV000447836] Chr18:136226..18534784 [GRCh37]
Chr18:18p11.32-q11.1
pathogenic
NM_014646.2(LPIN2):c.2381T>C (p.Ile794Thr) single nucleotide variant not provided [RCV000485568] Chr18:2921594 [GRCh38]
Chr18:2921592 [GRCh37]
Chr18:18p11.31
uncertain significance
GRCh37/hg19 18p11.32-q11.2(chr18:136226-21657790)x3 copy number gain See cases [RCV000512118] Chr18:136226..21657790 [GRCh37]
Chr18:18p11.32-q11.2
pathogenic
GRCh37/hg19 18p11.32-q21.1(chr18:136227-46171053)x3 copy number gain See cases [RCV000511857] Chr18:136227..46171053 [GRCh37]
Chr18:18p11.32-q21.1
pathogenic
GRCh37/hg19 18p11.32-11.22(chr18:2737126-9660466)x3 copy number gain See cases [RCV000511962] Chr18:2737126..9660466 [GRCh37]
Chr18:18p11.32-11.22
pathogenic
NM_014646.2(LPIN2):c.1339G>A (p.Val447Met) single nucleotide variant Majeed syndrome [RCV000553916]|not provided [RCV001571709]|not specified [RCV000506154] Chr18:2931373 [GRCh38]
Chr18:2931371 [GRCh37]
Chr18:18p11.31
uncertain significance
NM_014646.2(LPIN2):c.1168+44T>C single nucleotide variant Majeed syndrome [RCV000506629] Chr18:2937648 [GRCh38]
Chr18:2937646 [GRCh37]
Chr18:18p11.31
benign
GRCh37/hg19 18p11.32-11.21(chr18:136226-15198990)x3 copy number gain See cases [RCV000511520] Chr18:136226..15198990 [GRCh37]
Chr18:18p11.32-11.21
pathogenic|uncertain significance
NM_014646.2(LPIN2):c.2174+10C>T single nucleotide variant Majeed syndrome [RCV001470528]|not specified [RCV000507075] Chr18:2923765 [GRCh38]
Chr18:2923763 [GRCh37]
Chr18:18p11.31
likely benign|uncertain significance
GRCh37/hg19 18p11.32-11.21(chr18:136226-15157836)x1 copy number loss See cases [RCV000511826] Chr18:136226..15157836 [GRCh37]
Chr18:18p11.32-11.21
pathogenic
GRCh37/hg19 18p11.32-q11.1(chr18:136226-18521285)x4 copy number gain See cases [RCV000511949] Chr18:136226..18521285 [GRCh37]
Chr18:18p11.32-q11.1
pathogenic
NM_014646.2(LPIN2):c.1594C>T (p.Gln532Ter) single nucleotide variant not provided [RCV000579139] Chr18:2928617 [GRCh38]
Chr18:2928615 [GRCh37]
Chr18:18p11.31
pathogenic
GRCh37/hg19 18p11.32-11.31(chr18:136226-5323941)x1 copy number loss See cases [RCV000510776] Chr18:136226..5323941 [GRCh37]
Chr18:18p11.32-11.31
pathogenic
GRCh37/hg19 18p11.32-q23(chr18:136227-78014123) copy number gain See cases [RCV000511189] Chr18:136227..78014123 [GRCh37]
Chr18:18p11.32-q23
pathogenic
NM_014646.2(LPIN2):c.584C>G (p.Ala195Gly) single nucleotide variant Majeed syndrome [RCV000526577] Chr18:2951061 [GRCh38]
Chr18:2951059 [GRCh37]
Chr18:18p11.31
uncertain significance
GRCh37/hg19 18p11.32-11.21(chr18:13034-15026309)x1 copy number loss See cases [RCV000515578] Chr18:13034..15026309 [GRCh37]
Chr18:18p11.32-11.21
pathogenic
NM_014646.2(LPIN2):c.2621G>A (p.Cys874Tyr) single nucleotide variant Majeed syndrome [RCV000644764] Chr18:2920363 [GRCh38]
Chr18:2920361 [GRCh37]
Chr18:18p11.31
uncertain significance
NM_014646.2(LPIN2):c.2224G>A (p.Asp742Asn) single nucleotide variant Majeed syndrome [RCV000644765] Chr18:2922150 [GRCh38]
Chr18:2922148 [GRCh37]
Chr18:18p11.31
uncertain significance
NM_014646.2(LPIN2):c.1312C>T (p.Leu438Phe) single nucleotide variant Majeed syndrome [RCV000644766] Chr18:2931400 [GRCh38]
Chr18:2931398 [GRCh37]
Chr18:18p11.31
uncertain significance
NM_014646.2(LPIN2):c.1282G>A (p.Gly428Ser) single nucleotide variant Majeed syndrome [RCV000644769] Chr18:2931430 [GRCh38]
Chr18:2931428 [GRCh37]
Chr18:18p11.31
uncertain significance
NM_014646.2(LPIN2):c.87G>A (p.Gly29=) single nucleotide variant Majeed syndrome [RCV000644775] Chr18:2960754 [GRCh38]
Chr18:2960752 [GRCh37]
Chr18:18p11.31
likely benign
NM_014646.2(LPIN2):c.2328-15_2328-10del microsatellite not specified [RCV000614940] Chr18:2921657..2921662 [GRCh38]
Chr18:2921655..2921660 [GRCh37]
Chr18:18p11.31
likely benign
NM_014646.2(LPIN2):c.-4A>G single nucleotide variant not specified [RCV000612680] Chr18:2960844 [GRCh38]
Chr18:2960842 [GRCh37]
Chr18:18p11.31
likely benign
NM_014646.2(LPIN2):c.718T>C (p.Cys240Arg) single nucleotide variant not provided [RCV000585006] Chr18:2939584 [GRCh38]
Chr18:2939582 [GRCh37]
Chr18:18p11.31
uncertain significance
NM_014646.2(LPIN2):c.388A>G (p.Thr130Ala) single nucleotide variant Majeed syndrome [RCV000524552] Chr18:2951257 [GRCh38]
Chr18:2951255 [GRCh37]
Chr18:18p11.31
uncertain significance
NM_014646.2(LPIN2):c.2327+9C>T single nucleotide variant Majeed syndrome [RCV001475993]|not specified [RCV000613570] Chr18:2922038 [GRCh38]
Chr18:2922036 [GRCh37]
Chr18:18p11.31
likely benign
NM_014646.2(LPIN2):c.699-13_699-12dup duplication Majeed syndrome [RCV001514841]|not specified [RCV000611834] Chr18:2939614..2939615 [GRCh38]
Chr18:2939612..2939613 [GRCh37]
Chr18:18p11.31
benign|likely benign
NM_014646.2(LPIN2):c.516C>T (p.Ala172=) single nucleotide variant Majeed syndrome [RCV000906896]|not specified [RCV000603934] Chr18:2951129 [GRCh38]
Chr18:2951127 [GRCh37]
Chr18:18p11.31
likely benign
NM_014646.2(LPIN2):c.193-9C>T single nucleotide variant not specified [RCV000604199] Chr18:2954608 [GRCh38]
Chr18:2954606 [GRCh37]
Chr18:18p11.31
likely benign
NM_014646.2(LPIN2):c.206T>C (p.Ile69Thr) single nucleotide variant Majeed syndrome [RCV000625013] Chr18:2954586 [GRCh38]
Chr18:2954584 [GRCh37]
Chr18:18p11.31
uncertain significance
GRCh37/hg19 18p11.32-11.21(chr18:1-15157836)x1 copy number loss See cases [RCV000512162] Chr18:1..15157836 [GRCh37]
Chr18:18p11.32-11.21
pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:136226-15198990)x1 copy number loss See cases [RCV000512537] Chr18:136226..15198990 [GRCh37]
Chr18:18p11.32-11.21
pathogenic
NM_014646.2(LPIN2):c.1203T>G (p.Asp401Glu) single nucleotide variant Majeed syndrome [RCV000644763] Chr18:2934416 [GRCh38]
Chr18:2934414 [GRCh37]
Chr18:18p11.31
uncertain significance
NM_014646.2(LPIN2):c.1315T>C (p.Ser439Pro) single nucleotide variant Majeed syndrome [RCV000644767] Chr18:2931397 [GRCh38]
Chr18:2931395 [GRCh37]
Chr18:18p11.31
uncertain significance
NM_014646.2(LPIN2):c.517G>A (p.Ala173Thr) single nucleotide variant Majeed syndrome [RCV000644770] Chr18:2951128 [GRCh38]
Chr18:2951126 [GRCh37]
Chr18:18p11.31
uncertain significance
NM_014646.2(LPIN2):c.2583C>T (p.Phe861=) single nucleotide variant Majeed syndrome [RCV000644773] Chr18:2920401 [GRCh38]
Chr18:2920399 [GRCh37]
Chr18:18p11.31
likely benign
NM_014646.2(LPIN2):c.2316C>A (p.Ser772=) single nucleotide variant Majeed syndrome [RCV000644774] Chr18:2922058 [GRCh38]
Chr18:2922056 [GRCh37]
Chr18:18p11.31
likely benign
NM_014646.2(LPIN2):c.1800C>T (p.Ala600=) single nucleotide variant Majeed syndrome [RCV000644776] Chr18:2925362 [GRCh38]
Chr18:2925360 [GRCh37]
Chr18:18p11.31
likely benign
GRCh37/hg19 18p11.32-11.31(chr18:1345040-3479168) copy number loss Alopecia areata [RCV000626493] Chr18:1345040..3479168 [GRCh37]
Chr18:18p11.32-11.31
uncertain significance
GRCh37/hg19 18p11.32-11.31(chr18:2666704-5267842)x1 copy number loss See cases [RCV000512590] Chr18:2666704..5267842 [GRCh37]
Chr18:18p11.32-11.31
pathogenic
NM_014646.2(LPIN2):c.469C>T (p.Arg157Ter) single nucleotide variant Majeed syndrome [RCV000661951] Chr18:2951176 [GRCh38]
Chr18:2951174 [GRCh37]
Chr18:18p11.31
pathogenic
NM_014646.2(LPIN2):c.1026G>A (p.Val342=) single nucleotide variant not provided [RCV000658799] Chr18:2937834 [GRCh38]
Chr18:2937832 [GRCh37]
Chr18:18p11.31
likely benign
NM_014646.2(LPIN2):c.699C>G (p.Thr233=) single nucleotide variant not provided [RCV000658800] Chr18:2939603 [GRCh38]
Chr18:2939601 [GRCh37]
Chr18:18p11.31
uncertain significance
NM_014646.2(LPIN2):c.2569G>T (p.Val857Leu) single nucleotide variant Majeed syndrome [RCV000685276] Chr18:2920415 [GRCh38]
Chr18:2920413 [GRCh37]
Chr18:18p11.31
uncertain significance
Single allele duplication not provided [RCV000677916] Chr18:416490..8638370 [GRCh37]
Chr18:18p11.32-11.22
pathogenic
GRCh37/hg19 18p11.32-11.31(chr18:136226-4925310)x1 copy number loss not provided [RCV000684041] Chr18:136226..4925310 [GRCh37]
Chr18:18p11.32-11.31
pathogenic
GRCh37/hg19 18p11.32-11.23(chr18:136226-8057394)x1 copy number loss not provided [RCV000684044] Chr18:136226..8057394 [GRCh37]
Chr18:18p11.32-11.23
pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:958974-15181666)x3 copy number gain not provided [RCV000684051] Chr18:958974..15181666 [GRCh37]
Chr18:18p11.32-11.21
pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:136226-15157836)x4 copy number gain not provided [RCV000684052] Chr18:136226..15157836 [GRCh37]
Chr18:18p11.32-11.21
pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:136226-15198989)x1 copy number loss not provided [RCV000684053] Chr18:136226..15198989 [GRCh37]
Chr18:18p11.32-11.21
pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:136226-15198990)x4 copy number gain not provided [RCV000684054] Chr18:136226..15198990 [GRCh37]
Chr18:18p11.32-11.21
pathogenic
GRCh37/hg19 18p11.32-11.22(chr18:136226-10074733)x1 copy number loss not provided [RCV000684046] Chr18:136226..10074733 [GRCh37]
Chr18:18p11.32-11.22
pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:136226-12767079)x1 copy number loss not provided [RCV000684048] Chr18:136226..12767079 [GRCh37]
Chr18:18p11.32-11.21
pathogenic
NM_014646.2(LPIN2):c.589C>T (p.Arg197Ter) single nucleotide variant Majeed syndrome [RCV000687297] Chr18:2951056 [GRCh38]
Chr18:2951054 [GRCh37]
Chr18:18p11.31
pathogenic
NM_014646.2(LPIN2):c.1938+4A>G single nucleotide variant Majeed syndrome [RCV000687992] Chr18:2925220 [GRCh38]
Chr18:2925218 [GRCh37]
Chr18:18p11.31
uncertain significance
NM_014646.2(LPIN2):c.698C>T (p.Thr233Ile) single nucleotide variant Majeed syndrome [RCV000687638]|not provided [RCV001507394] Chr18:2940605 [GRCh38]
Chr18:2940603 [GRCh37]
Chr18:18p11.31
uncertain significance
NM_014646.2(LPIN2):c.71A>G (p.Gln24Arg) single nucleotide variant Majeed syndrome [RCV000706560] Chr18:2960770 [GRCh38]
Chr18:2960768 [GRCh37]
Chr18:18p11.31
uncertain significance
NC_000018.10:g.(?_2920273)_(2960860_?)del deletion Majeed syndrome [RCV000707898] Chr18:2920273..2960860 [GRCh38]
Chr18:2920271..2960858 [GRCh37]
Chr18:18p11.31
pathogenic
NC_000018.9:g.(?_2920271)_(2960858_?)dup duplication Majeed syndrome [RCV000708022] Chr18:2920273..2960860 [GRCh38]
Chr18:2920271..2960858 [GRCh37]
Chr18:18p11.31
uncertain significance
NC_000018.9:g.(?_2656055)_(3215241_?)dup duplication Facioscapulohumeral muscular dystrophy 2 [RCV000708121] Chr18:2656055..3215241 [GRCh37]
Chr18:18p11.32-11.31
uncertain significance
NM_014646.2(LPIN2):c.584C>T (p.Ala195Val) single nucleotide variant Majeed syndrome [RCV000703303] Chr18:2951061 [GRCh38]
Chr18:2951059 [GRCh37]
Chr18:18p11.31
uncertain significance
NM_014646.2(LPIN2):c.523G>C (p.Ala175Pro) single nucleotide variant Majeed syndrome [RCV000697054] Chr18:2951122 [GRCh38]
Chr18:2951120 [GRCh37]
Chr18:18p11.31
uncertain significance
NM_014646.2(LPIN2):c.847C>T (p.His283Tyr) single nucleotide variant Majeed syndrome [RCV001002083] Chr18:2938013 [GRCh38]
Chr18:2938011 [GRCh37]
Chr18:18p11.31
uncertain significance
NM_014646.2(LPIN2):c.2445T>C (p.Asp815=) single nucleotide variant Majeed syndrome [RCV000768259] Chr18:2920879 [GRCh38]
Chr18:2920877 [GRCh37]
Chr18:18p11.31
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001375808.2(LPIN2):c.193-93G>C single nucleotide variant not provided [RCV001548462] Chr18:2954692 [GRCh38]
Chr18:2954690 [GRCh37]
Chr18:18p11.31
likely benign
NM_014646.2(LPIN2):c.2088-10_2088-8del deletion not provided [RCV000762222] Chr18:2923869..2923871 [GRCh38]
Chr18:2923867..2923869 [GRCh37]
Chr18:18p11.31
uncertain significance
GRCh37/hg19 18p11.32-q23(chr18:12842-78015180)x3 copy number gain not provided [RCV000752245] Chr18:12842..78015180 [GRCh37]
Chr18:18p11.32-q23
pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:136304-15143714)x1 copy number loss not provided [RCV001006952] Chr18:136304..15143714 [GRCh37]
Chr18:18p11.32-11.21
pathogenic
GRCh37/hg19 18p11.32-q23(chr18:13034-78015180)x3 copy number gain not provided [RCV000752246] Chr18:13034..78015180 [GRCh37]
Chr18:18p11.32-q23
pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:124335-14139006)x1 copy number loss not provided [RCV000752249] Chr18:124335..14139006 [GRCh37]
Chr18:18p11.32-11.21
pathogenic
NM_014646.2(LPIN2):c.2279G>A (p.Arg760Gln) single nucleotide variant Majeed syndrome [RCV001045993] Chr18:2922095 [GRCh38]
Chr18:2922093 [GRCh37]
Chr18:18p11.31
uncertain significance
NM_014646.2(LPIN2):c.1168+7G>A single nucleotide variant Majeed syndrome [RCV001428683]|not provided [RCV000878770] Chr18:2937685 [GRCh38]
Chr18:2937683 [GRCh37]
Chr18:18p11.31
likely benign
NM_014646.2(LPIN2):c.1368C>T (p.Thr456=) single nucleotide variant Majeed syndrome [RCV001452133]|not provided [RCV000982760] Chr18:2931344 [GRCh38]
Chr18:2931342 [GRCh37]
Chr18:18p11.31
likely benign
NM_014646.2(LPIN2):c.435A>G (p.Thr145=) single nucleotide variant Majeed syndrome [RCV001452398]|not provided [RCV000865335] Chr18:2951210 [GRCh38]
Chr18:2951208 [GRCh37]
Chr18:18p11.31
likely benign
NM_014646.2(LPIN2):c.2502C>A (p.Pro834=) single nucleotide variant Majeed syndrome [RCV001412706]|not provided [RCV000976897] Chr18:2920822 [GRCh38]
Chr18:2920820 [GRCh37]
Chr18:18p11.31
likely benign
NM_014646.2(LPIN2):c.2087+9A>C single nucleotide variant not provided [RCV000922686] Chr18:2924389 [GRCh38]
Chr18:2924387 [GRCh37]
Chr18:18p11.31
likely benign
NM_014646.2(LPIN2):c.830A>G (p.Lys277Arg) single nucleotide variant Majeed syndrome [RCV001051172] Chr18:2938030 [GRCh38]
Chr18:2938028 [GRCh37]
Chr18:18p11.31
uncertain significance
NM_014646.2(LPIN2):c.1957G>A (p.Asp653Asn) single nucleotide variant Majeed syndrome [RCV001071111] Chr18:2924528 [GRCh38]
Chr18:2924526 [GRCh37]
Chr18:18p11.31
uncertain significance
GRCh37/hg19 18p11.32-11.21(chr18:136226-15175005)x1 copy number loss not provided [RCV001006953] Chr18:136226..15175005 [GRCh37]
Chr18:18p11.32-11.21
pathogenic
NM_014646.2(LPIN2):c.1924_1928del (p.Ser642fs) deletion Majeed syndrome [RCV001061770] Chr18:2925234..2925238 [GRCh38]
Chr18:2925232..2925236 [GRCh37]
Chr18:18p11.31
pathogenic
NM_014646.2(LPIN2):c.2091G>A (p.Ser697=) single nucleotide variant Majeed syndrome [RCV001056335] Chr18:2923858 [GRCh38]
Chr18:2923856 [GRCh37]
Chr18:18p11.31
uncertain significance
NM_014646.2(LPIN2):c.1451_1456+6del deletion Majeed syndrome [RCV001050150] Chr18:2931250..2931261 [GRCh38]
Chr18:2931248..2931259 [GRCh37]
Chr18:18p11.31
likely pathogenic
NM_001375808.2(LPIN2):c.616GAA[2] (p.Glu208del) microsatellite Majeed syndrome [RCV001052706] Chr18:2940679..2940681 [GRCh38]
Chr18:2940677..2940679 [GRCh37]
Chr18:18p11.31
uncertain significance
NM_014646.2(LPIN2):c.1711C>T (p.Leu571=) single nucleotide variant Majeed syndrome [RCV001059693] Chr18:2926805 [GRCh38]
Chr18:2926803 [GRCh37]
Chr18:18p11.31
uncertain significance
NM_001375808.2(LPIN2):c.1457-267dup duplication not provided [RCV000832831] Chr18:2929417..2929418 [GRCh38]
Chr18:2929415..2929416 [GRCh37]
Chr18:18p11.31
likely benign
NM_001375808.2(LPIN2):c.-9-128_-9-123del deletion not provided [RCV000836393] Chr18:2960972..2960977 [GRCh38]
Chr18:2960970..2960975 [GRCh37]
Chr18:18p11.31
benign
NM_014646.2(LPIN2):c.2547-1G>A single nucleotide variant Majeed syndrome [RCV000778530] Chr18:2920438 [GRCh38]
Chr18:2920436 [GRCh37]
Chr18:18p11.31
uncertain significance
NM_014646.2(LPIN2):c.1939-2del deletion Majeed syndrome [RCV000778531] Chr18:2924548 [GRCh38]
Chr18:2924546 [GRCh37]
Chr18:18p11.31
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_014646.2(LPIN2):c.192+10C>G single nucleotide variant Majeed syndrome [RCV001503250]|not provided [RCV000929973] Chr18:2960639 [GRCh38]
Chr18:2960637 [GRCh37]
Chr18:18p11.31
likely benign
NM_014646.2(LPIN2):c.1793+242G>A single nucleotide variant not provided [RCV000837278] Chr18:2926481 [GRCh38]
Chr18:2926479 [GRCh37]
Chr18:18p11.31
benign
NM_014646.2(LPIN2):c.1133C>T (p.Pro378Leu) single nucleotide variant Majeed syndrome [RCV000813572] Chr18:2937727 [GRCh38]
Chr18:2937725 [GRCh37]
Chr18:18p11.31
uncertain significance
NM_014646.2(LPIN2):c.1168+290C>T single nucleotide variant not provided [RCV000831811] Chr18:2937402 [GRCh38]
Chr18:2937400 [GRCh37]
Chr18:18p11.31
benign
NM_014646.2(LPIN2):c.823-203G>A single nucleotide variant not provided [RCV000837402] Chr18:2938240 [GRCh38]
Chr18:2938238 [GRCh37]
Chr18:18p11.31
benign
NM_014646.2(LPIN2):c.802G>A (p.Gly268Arg) single nucleotide variant Majeed syndrome [RCV000822881] Chr18:2939500 [GRCh38]
Chr18:2939498 [GRCh37]
Chr18:18p11.31
uncertain significance
NM_014646.2(LPIN2):c.1456+29A>G single nucleotide variant Majeed syndrome [RCV001001551]|not provided [RCV000832811] Chr18:2931227 [GRCh38]
Chr18:2931225 [GRCh37]
Chr18:18p11.31
benign
NM_014646.2(LPIN2):c.2546+145T>C single nucleotide variant not provided [RCV000837738] Chr18:2920633 [GRCh38]
Chr18:2920631 [GRCh37]
Chr18:18p11.31
likely benign
NM_014646.2(LPIN2):c.-9-186A>T single nucleotide variant not provided [RCV000836392] Chr18:2961035 [GRCh38]
Chr18:2961033 [GRCh37]
Chr18:18p11.31
benign
NM_014646.2(LPIN2):c.1269-249C>T single nucleotide variant not provided [RCV000836394] Chr18:2931692 [GRCh38]
Chr18:2931690 [GRCh37]
Chr18:18p11.31
benign
NM_014646.2(LPIN2):c.1711-220C>A single nucleotide variant not provided [RCV000836395] Chr18:2927025 [GRCh38]
Chr18:2927023 [GRCh37]
Chr18:18p11.31
benign
NM_014646.2(LPIN2):c.1456+170A>G single nucleotide variant not provided [RCV000836396] Chr18:2931086 [GRCh38]
Chr18:2931084 [GRCh37]
Chr18:18p11.31
likely benign
NM_014646.2(LPIN2):c.2420C>T (p.Ala807Val) single nucleotide variant Majeed syndrome [RCV000820106] Chr18:2921555 [GRCh38]
Chr18:2921553 [GRCh37]
Chr18:18p11.31
uncertain significance
NM_014646.2(LPIN2):c.1621-203_1621-193dup duplication not provided [RCV000838673] Chr18:2928003..2928004 [GRCh38]
Chr18:2928001..2928002 [GRCh37]
Chr18:18p11.31
likely benign
NM_014646.2(LPIN2):c.1710+218G>A single nucleotide variant not provided [RCV000838674] Chr18:2927504 [GRCh38]
Chr18:2927502 [GRCh37]
Chr18:18p11.31
likely benign
NM_014646.2(LPIN2):c.1522C>T (p.Pro508Ser) single nucleotide variant Majeed syndrome [RCV000807945] Chr18:2929093 [GRCh38]
Chr18:2929091 [GRCh37]
Chr18:18p11.31
uncertain significance
NM_014646.2(LPIN2):c.1793+23G>A single nucleotide variant not provided [RCV000835150] Chr18:2926700 [GRCh38]
Chr18:2926698 [GRCh37]
Chr18:18p11.31
likely benign
NM_014646.2(LPIN2):c.1793+260A>G single nucleotide variant not provided [RCV000826459] Chr18:2926463 [GRCh38]
Chr18:2926461 [GRCh37]
Chr18:18p11.31
benign
NC_000018.10:g.2934457del deletion not provided [RCV000829002] Chr18:18p11.31 likely benign
NM_014646.2(LPIN2):c.755C>T (p.Ala252Val) single nucleotide variant Majeed syndrome [RCV000817030] Chr18:2939547 [GRCh38]
Chr18:2939545 [GRCh37]
Chr18:18p11.31
uncertain significance
NM_014646.2(LPIN2):c.200T>C (p.Ile67Thr) single nucleotide variant Majeed syndrome [RCV000802267] Chr18:2954592 [GRCh38]
Chr18:2954590 [GRCh37]
Chr18:18p11.31
uncertain significance
NM_014646.2(LPIN2):c.1082C>T (p.Ala361Val) single nucleotide variant Majeed syndrome [RCV000802379] Chr18:2937778 [GRCh38]
Chr18:2937776 [GRCh37]
Chr18:18p11.31
uncertain significance
NM_014646.2(LPIN2):c.1793+98G>A single nucleotide variant not provided [RCV000838675] Chr18:2926625 [GRCh38]
Chr18:2926623 [GRCh37]
Chr18:18p11.31
likely benign
NM_014646.2(LPIN2):c.1939-159T>C single nucleotide variant not provided [RCV000838676] Chr18:2924705 [GRCh38]
Chr18:2924703 [GRCh37]
Chr18:18p11.31
likely benign
NM_014646.2(LPIN2):c.1793+268C>T single nucleotide variant not provided [RCV000831813] Chr18:2926455 [GRCh38]
Chr18:2926453 [GRCh37]
Chr18:18p11.31
likely benign
NM_014646.2(LPIN2):c.1793+270A>T single nucleotide variant not provided [RCV000831814] Chr18:2926453 [GRCh38]
Chr18:2926451 [GRCh37]
Chr18:18p11.31
likely benign
NM_014646.2(LPIN2):c.106G>A (p.Val36Ile) single nucleotide variant Majeed syndrome [RCV000804776] Chr18:2960735 [GRCh38]
Chr18:2960733 [GRCh37]
Chr18:18p11.31
uncertain significance
NM_014646.2(LPIN2):c.1168+4A>G single nucleotide variant Majeed syndrome [RCV000808208] Chr18:2937688 [GRCh38]
Chr18:2937686 [GRCh37]
Chr18:18p11.31
uncertain significance
NM_014646.2(LPIN2):c.377G>A (p.Gly126Asp) single nucleotide variant Majeed syndrome [RCV000824191] Chr18:2951268 [GRCh38]
Chr18:2951266 [GRCh37]
Chr18:18p11.31
uncertain significance
NM_014646.2(LPIN2):c.1367C>T (p.Thr456Ile) single nucleotide variant Majeed syndrome [RCV000821747] Chr18:2931345 [GRCh38]
Chr18:2931343 [GRCh37]
Chr18:18p11.31
uncertain significance
NM_014646.2(LPIN2):c.2086_2087+39del deletion Majeed syndrome [RCV000813715] Chr18:2924359..2924399 [GRCh38]
Chr18:2924357..2924397 [GRCh37]
Chr18:18p11.31
likely pathogenic
NM_014646.2(LPIN2):c.1168+120C>T single nucleotide variant not provided [RCV000837197] Chr18:2937572 [GRCh38]
Chr18:2937570 [GRCh37]
Chr18:18p11.31
likely benign
NM_014646.2(LPIN2):c.1268+154C>T single nucleotide variant not provided [RCV000837198] Chr18:2934197 [GRCh38]
Chr18:2934195 [GRCh37]
Chr18:18p11.31
likely benign
NM_014646.2(LPIN2):c.2617C>A (p.Pro873Thr) single nucleotide variant Majeed syndrome [RCV000792772] Chr18:2920367 [GRCh38]
Chr18:2920365 [GRCh37]
Chr18:18p11.31
uncertain significance
NM_014646.2(LPIN2):c.-9-94A>T single nucleotide variant not provided [RCV000837428] Chr18:2960943 [GRCh38]
Chr18:2960941 [GRCh37]
Chr18:18p11.31
likely benign
NM_001375808.2(LPIN2):c.2174+218_2174+219del microsatellite not provided [RCV000837787] Chr18:2923556..2923557 [GRCh38]
Chr18:2923554..2923555 [GRCh37]
Chr18:18p11.31
likely benign
GRCh37/hg19 18p11.32-11.21(chr18:13034-15330525)x1 copy number loss See cases [RCV001007421] Chr18:13034..15330525 [GRCh37]
Chr18:18p11.32-11.21
pathogenic
NM_014646.2(LPIN2):c.1199C>T (p.Pro400Leu) single nucleotide variant Majeed syndrome [RCV001043135] Chr18:2934420 [GRCh38]
Chr18:2934418 [GRCh37]
Chr18:18p11.31
uncertain significance
GRCh37/hg19 18p11.32-11.21(chr18:136226-13894429)x1 copy number loss not provided [RCV001006947] Chr18:136226..13894429 [GRCh37]
Chr18:18p11.32-11.21
pathogenic
NM_014646.2(LPIN2):c.1793+259C>T single nucleotide variant not provided [RCV000826458] Chr18:2926464 [GRCh38]
Chr18:2926462 [GRCh37]
Chr18:18p11.31
benign
NM_014646.2(LPIN2):c.1151C>T (p.Ser384Leu) single nucleotide variant Majeed syndrome [RCV000798960] Chr18:2937709 [GRCh38]
Chr18:2937707 [GRCh37]
Chr18:18p11.31
uncertain significance
NM_014646.2(LPIN2):c.907A>C (p.Ser303Arg) single nucleotide variant Majeed syndrome [RCV000816514] Chr18:2937953 [GRCh38]
Chr18:2937951 [GRCh37]
Chr18:18p11.31
uncertain significance
NM_014646.2(LPIN2):c.374C>G (p.Ser125Trp) single nucleotide variant Majeed syndrome [RCV000811733] Chr18:2951271 [GRCh38]
Chr18:2951269 [GRCh37]
Chr18:18p11.31
uncertain significance
NM_014646.2(LPIN2):c.2175-253A>G single nucleotide variant not provided [RCV000827671] Chr18:2922452 [GRCh38]
Chr18:2922450 [GRCh37]
Chr18:18p11.31
benign
Single allele deletion Neurodevelopmental disorder [RCV000787390] Chr18:2830427..3322943 [GRCh37]
Chr18:18p11.32-11.31
uncertain significance
GRCh37/hg19 18p11.32-11.31(chr18:544117-5679224)x1 copy number loss not provided [RCV001006933] Chr18:544117..5679224 [GRCh37]
Chr18:18p11.32-11.31
pathogenic
NM_001375808.2(LPIN2):c.1073T>C (p.Met358Thr) single nucleotide variant Majeed syndrome [RCV001211655] Chr18:2937787 [GRCh38]
Chr18:2937785 [GRCh37]
Chr18:18p11.31
uncertain significance
NM_001375808.2(LPIN2):c.1940C>T (p.Ala647Val) single nucleotide variant Majeed syndrome [RCV001229164] Chr18:2924545 [GRCh38]
Chr18:2924543 [GRCh37]
Chr18:18p11.31
uncertain significance
GRCh37/hg19 18p11.32-11.21(chr18:971295-11250447)x1 copy number loss not provided [RCV001006944] Chr18:971295..11250447 [GRCh37]
Chr18:18p11.32-11.21
pathogenic
GRCh37/hg19 18p11.32-q11.1(chr18:136226-18529578)x1 copy number loss not provided [RCV001006954] Chr18:136226..18529578 [GRCh37]
Chr18:18p11.32-q11.1
pathogenic
NM_001375808.2(LPIN2):c.1442G>C (p.Gly481Ala) single nucleotide variant Majeed syndrome [RCV001238623] Chr18:2931270 [GRCh38]
Chr18:2931268 [GRCh37]
Chr18:18p11.31
uncertain significance
NM_001375808.2(LPIN2):c.410T>C (p.Ile137Thr) single nucleotide variant Majeed syndrome [RCV001242555] Chr18:2951235 [GRCh38]
Chr18:2951233 [GRCh37]
Chr18:18p11.31
uncertain significance
NM_001375808.2(LPIN2):c.553G>A (p.Val185Met) single nucleotide variant Majeed syndrome [RCV001217499] Chr18:2951092 [GRCh38]
Chr18:2951090 [GRCh37]
Chr18:18p11.31
uncertain significance
NM_001375808.2(LPIN2):c.2327+4C>T single nucleotide variant Majeed syndrome [RCV001204004] Chr18:2922043 [GRCh38]
Chr18:2922041 [GRCh37]
Chr18:18p11.31
uncertain significance
NM_001375808.2(LPIN2):c.374C>T (p.Ser125Leu) single nucleotide variant Majeed syndrome [RCV001210245] Chr18:2951271 [GRCh38]
Chr18:2951269 [GRCh37]
Chr18:18p11.31
uncertain significance
NM_001375808.2(LPIN2):c.1145T>G (p.Val382Gly) single nucleotide variant Majeed syndrome [RCV001226085] Chr18:2937715 [GRCh38]
Chr18:2937713 [GRCh37]
Chr18:18p11.31
uncertain significance
NM_001375808.2(LPIN2):c.698C>A (p.Thr233Asn) single nucleotide variant Majeed syndrome [RCV001226094] Chr18:2940605 [GRCh38]
Chr18:2940603 [GRCh37]
Chr18:18p11.31
uncertain significance
NM_001375808.2(LPIN2):c.2567T>G (p.Leu856Arg) single nucleotide variant Majeed syndrome [RCV001230977] Chr18:2920417 [GRCh38]
Chr18:2920415 [GRCh37]
Chr18:18p11.31
uncertain significance
GRCh37/hg19 18p11.31(chr18:2964729-3334683)x3 copy number gain not provided [RCV000846353] Chr18:2964729..3334683 [GRCh37]
Chr18:18p11.31
uncertain significance
NM_014646.2(LPIN2):c.1904A>G (p.Tyr635Cys) single nucleotide variant not provided [RCV000996633] Chr18:2925258 [GRCh38]
Chr18:2925256 [GRCh37]
Chr18:18p11.31
uncertain significance
NM_014646.2(LPIN2):c.704A>G (p.Tyr235Cys) single nucleotide variant not provided [RCV000996634] Chr18:2939598 [GRCh38]
Chr18:2939596 [GRCh37]
Chr18:18p11.31
uncertain significance
NM_001375808.2(LPIN2):c.*1417C>T single nucleotide variant Majeed syndrome [RCV001128079] Chr18:2918876 [GRCh38]
Chr18:2918874 [GRCh37]
Chr18:18p11.31
uncertain significance
NM_001375808.2(LPIN2):c.*804G>A single nucleotide variant Majeed syndrome [RCV001128169] Chr18:2919489 [GRCh38]
Chr18:2919487 [GRCh37]
Chr18:18p11.31
uncertain significance
NM_001375808.2(LPIN2):c.*778C>T single nucleotide variant Majeed syndrome [RCV001128170] Chr18:2919515 [GRCh38]
Chr18:2919513 [GRCh37]
Chr18:18p11.31
uncertain significance
NM_001375808.2(LPIN2):c.*271T>G single nucleotide variant Majeed syndrome [RCV001128261] Chr18:2920022 [GRCh38]
Chr18:2920020 [GRCh37]
Chr18:18p11.31
uncertain significance
NM_001375808.2(LPIN2):c.*100G>A single nucleotide variant Majeed syndrome [RCV001122533] Chr18:2920193 [GRCh38]
Chr18:2920191 [GRCh37]
Chr18:18p11.31
uncertain significance
NM_001375808.2(LPIN2):c.*1504T>C single nucleotide variant Majeed syndrome [RCV001125971] Chr18:2918789 [GRCh38]
Chr18:2918787 [GRCh37]
Chr18:18p11.31
uncertain significance
NM_001375808.2(LPIN2):c.*1497C>T single nucleotide variant Majeed syndrome [RCV001125972] Chr18:2918796 [GRCh38]
Chr18:2918794 [GRCh37]
Chr18:18p11.31
uncertain significance
NM_001375808.2(LPIN2):c.590+8T>G single nucleotide variant Majeed syndrome [RCV001126384] Chr18:2951047 [GRCh38]
Chr18:2951045 [GRCh37]
Chr18:18p11.31
uncertain significance
NM_001375808.2(LPIN2):c.884A>T (p.Asn295Ile) single nucleotide variant Majeed syndrome [RCV001123721] Chr18:2937976 [GRCh38]
Chr18:2937974 [GRCh37]
Chr18:18p11.31
uncertain significance
NM_001375808.2(LPIN2):c.2175-299T>C single nucleotide variant not provided [RCV001569041] Chr18:2922498 [GRCh38]
Chr18:2922496 [GRCh37]
Chr18:18p11.31
likely benign
NM_001375808.2(LPIN2):c.822+304A>G single nucleotide variant not provided [RCV001545858] Chr18:2939176 [GRCh38]
Chr18:2939174 [GRCh37]
Chr18:18p11.31
likely benign
NM_001375808.2(LPIN2):c.2088-66C>G single nucleotide variant not provided [RCV001556065] Chr18:2923927 [GRCh38]
Chr18:2923925 [GRCh37]
Chr18:18p11.31
likely benign
NM_001375808.2(LPIN2):c.288+54C>T single nucleotide variant not provided [RCV001556754] Chr18:2954450 [GRCh38]
Chr18:2954448 [GRCh37]
Chr18:18p11.31
likely benign
NM_001375808.2(LPIN2):c.699-24C>T single nucleotide variant not provided [RCV001558680] Chr18:2939627 [GRCh38]
Chr18:2939625 [GRCh37]
Chr18:18p11.31
likely benign
NM_001375808.2(LPIN2):c.2175-163G>T single nucleotide variant not provided [RCV001552594] Chr18:2922362 [GRCh38]
Chr18:2922360 [GRCh37]
Chr18:18p11.31
likely benign
NM_014646.2(LPIN2):c.756G>A (p.Ala252=) single nucleotide variant Majeed syndrome [RCV000887195] Chr18:2939546 [GRCh38]
Chr18:2939544 [GRCh37]
Chr18:18p11.31
likely benign|conflicting interpretations of pathogenicity
NM_014646.2(LPIN2):c.2088-10G>A single nucleotide variant Majeed syndrome [RCV000887197] Chr18:2923871 [GRCh38]
Chr18:2923869 [GRCh37]
Chr18:18p11.31
likely benign
NM_014646.2(LPIN2):c.1275G>A (p.Ser425=) single nucleotide variant Majeed syndrome [RCV000872891] Chr18:2931437 [GRCh38]
Chr18:2931435 [GRCh37]
Chr18:18p11.31
likely benign
NM_001375808.2(LPIN2):c.*806C>T single nucleotide variant Majeed syndrome [RCV001126081] Chr18:2919487 [GRCh38]
Chr18:2919485 [GRCh37]
Chr18:18p11.31
uncertain significance
NM_001375808.2(LPIN2):c.*493G>C single nucleotide variant Majeed syndrome [RCV001126198] Chr18:2919800 [GRCh38]
Chr18:2919798 [GRCh37]
Chr18:18p11.31
uncertain significance
NM_001375808.2(LPIN2):c.*477C>T single nucleotide variant Majeed syndrome [RCV001126199] Chr18:2919816 [GRCh38]
Chr18:2919814 [GRCh37]
Chr18:18p11.31
uncertain significance
NM_001375808.2(LPIN2):c.2016T>C (p.Cys672=) single nucleotide variant Majeed syndrome [RCV001126293] Chr18:2924469 [GRCh38]
Chr18:2924467 [GRCh37]
Chr18:18p11.31
uncertain significance
NM_001375808.2(LPIN2):c.1042_1045delinsGTA (p.Pro348fs) indel Majeed syndrome [RCV001244419] Chr18:2937815..2937818 [GRCh38]
Chr18:2937813..2937816 [GRCh37]
Chr18:18p11.31
pathogenic
GRCh37/hg19 18p11.32-11.31(chr18:136226-5407839)x1 copy number loss not provided [RCV001006932] Chr18:136226..5407839 [GRCh37]
Chr18:18p11.32-11.31
pathogenic
NM_001375808.2(LPIN2):c.*1146T>C single nucleotide variant Majeed syndrome [RCV001122320] Chr18:2919147 [GRCh38]
Chr18:2919145 [GRCh37]
Chr18:18p11.31
uncertain significance
NM_001375808.2(LPIN2):c.*1147A>G single nucleotide variant Majeed syndrome [RCV001128083] Chr18:2919146 [GRCh38]
Chr18:2919144 [GRCh37]
Chr18:18p11.31
likely benign
NM_001375808.2(LPIN2):c.*155G>C single nucleotide variant Majeed syndrome [RCV001128263] Chr18:2920138 [GRCh38]
Chr18:2920136 [GRCh37]
Chr18:18p11.31
uncertain significance
NM_001375808.2(LPIN2):c.1716A>G (p.Pro572=) single nucleotide variant Majeed syndrome [RCV001128347] Chr18:2926800 [GRCh38]
Chr18:2926798 [GRCh37]
Chr18:18p11.31
uncertain significance
NM_001375808.2(LPIN2):c.1051G>C (p.Glu351Gln) single nucleotide variant Majeed syndrome [RCV001123720] Chr18:2937809 [GRCh38]
Chr18:2937807 [GRCh37]
Chr18:18p11.31
uncertain significance
NM_001375808.2(LPIN2):c.1930G>A (p.Asp644Asn) single nucleotide variant Majeed syndrome [RCV001217145] Chr18:2925232 [GRCh38]
Chr18:2925230 [GRCh37]
Chr18:18p11.31
uncertain significance
NM_001375808.2(LPIN2):c.1423G>A (p.Gly475Arg) single nucleotide variant Majeed syndrome [RCV001243942] Chr18:2931289 [GRCh38]
Chr18:2931287 [GRCh37]
Chr18:18p11.31
uncertain significance
NM_001375808.2(LPIN2):c.*2710A>G single nucleotide variant Majeed syndrome [RCV001124890] Chr18:2917583 [GRCh38]
Chr18:2917581 [GRCh37]
Chr18:18p11.31
uncertain significance
NM_001375808.2(LPIN2):c.*2557G>A single nucleotide variant Majeed syndrome [RCV001124892] Chr18:2917736 [GRCh38]
Chr18:2917734 [GRCh37]
Chr18:18p11.31
uncertain significance
NM_001375808.2(LPIN2):c.*1810A>G single nucleotide variant Majeed syndrome [RCV001124993] Chr18:2918483 [GRCh38]
Chr18:2918481 [GRCh37]
Chr18:18p11.31
uncertain significance
NM_001375808.2(LPIN2):c.2207G>A (p.Arg736His) single nucleotide variant Majeed syndrome [RCV001234590] Chr18:2922167 [GRCh38]
Chr18:2922165 [GRCh37]
Chr18:18p11.31
likely benign|uncertain significance
NM_001375808.2(LPIN2):c.*934G>C single nucleotide variant Majeed syndrome [RCV001125109] Chr18:2919359 [GRCh38]
Chr18:2919357 [GRCh37]
Chr18:18p11.31
uncertain significance
NM_001375808.2(LPIN2):c.2327+10C>T single nucleotide variant Majeed syndrome [RCV001125328] Chr18:2922037 [GRCh38]
Chr18:2922035 [GRCh37]
Chr18:18p11.31
uncertain significance
NM_014646.2(LPIN2):c.496A>G (p.Ser166Gly) single nucleotide variant Majeed syndrome [RCV001048369] Chr18:2951149 [GRCh38]
Chr18:2951147 [GRCh37]
Chr18:18p11.31
uncertain significance
NM_014646.2(LPIN2):c.1026G>T (p.Val342=) single nucleotide variant Majeed syndrome [RCV000934347] Chr18:2937834 [GRCh38]
Chr18:2937832 [GRCh37]
Chr18:18p11.31
likely benign
NM_001375808.2(LPIN2):c.1168+120_1168+121del deletion not provided [RCV001557310] Chr18:2937571..2937572 [GRCh38]
Chr18:2937569..2937570 [GRCh37]
Chr18:18p11.31
likely benign
NM_001375808.2(LPIN2):c.289-96_289-94del deletion not provided [RCV001545911] Chr18:2951450..2951452 [GRCh38]
Chr18:2951448..2951450 [GRCh37]
Chr18:18p11.31
likely benign
NM_001375808.2(LPIN2):c.193-228G>A single nucleotide variant not provided [RCV001577758] Chr18:2954827 [GRCh38]
Chr18:2954825 [GRCh37]
Chr18:18p11.31
likely benign
NM_001375808.2(LPIN2):c.2442+129C>T single nucleotide variant not provided [RCV001553268] Chr18:2921404 [GRCh38]
Chr18:2921402 [GRCh37]
Chr18:18p11.31
likely benign
NM_014646.2(LPIN2):c.1118C>T (p.Pro373Leu) single nucleotide variant Majeed syndrome [RCV001065779] Chr18:2937742 [GRCh38]
Chr18:2937740 [GRCh37]
Chr18:18p11.31
uncertain significance
NM_001375808.2(LPIN2):c.*1239C>T single nucleotide variant Majeed syndrome [RCV001128080] Chr18:2919054 [GRCh38]
Chr18:2919052 [GRCh37]
Chr18:18p11.31
uncertain significance
NM_001375808.2(LPIN2):c.*1157T>C single nucleotide variant Majeed syndrome [RCV001128082] Chr18:2919136 [GRCh38]
Chr18:2919134 [GRCh37]
Chr18:18p11.31
uncertain significance
NM_001375808.2(LPIN2):c.*773C>T single nucleotide variant Majeed syndrome [RCV001128171] Chr18:2919520 [GRCh38]
Chr18:2919518 [GRCh37]
Chr18:18p11.31
uncertain significance
NM_001375808.2(LPIN2):c.*2605G>A single nucleotide variant Majeed syndrome [RCV001124891] Chr18:2917688 [GRCh38]
Chr18:2917686 [GRCh37]
Chr18:18p11.31
uncertain significance
NM_001375808.2(LPIN2):c.*660A>G single nucleotide variant Majeed syndrome [RCV001125221] Chr18:2919633 [GRCh38]
Chr18:2919631 [GRCh37]
Chr18:18p11.31
uncertain significance
GRCh37/hg19 18p11.32-11.31(chr18:2885234-3405357)x3 copy number gain not provided [RCV001006929] Chr18:2885234..3405357 [GRCh37]
Chr18:18p11.32-11.31
likely benign
GRCh37/hg19 18p11.32-11.31(chr18:136226-3502493)x1 copy number loss not provided [RCV001006930] Chr18:136226..3502493 [GRCh37]
Chr18:18p11.32-11.31
pathogenic
NM_014646.2(LPIN2):c.1939-14T>C single nucleotide variant Majeed syndrome [RCV001000657] Chr18:2924560 [GRCh38]
Chr18:2924558 [GRCh37]
Chr18:18p11.31
likely benign
NM_001375808.2(LPIN2):c.*517G>A single nucleotide variant Majeed syndrome [RCV001125223] Chr18:2919776 [GRCh38]
Chr18:2919774 [GRCh37]
Chr18:18p11.31
uncertain significance
NM_001375808.2(LPIN2):c.*2553G>A single nucleotide variant Majeed syndrome [RCV001124893] Chr18:2917740 [GRCh38]
Chr18:2917738 [GRCh37]
Chr18:18p11.31
likely benign
NM_001375808.2(LPIN2):c.1888G>A (p.Gly630Ser) single nucleotide variant Majeed syndrome [RCV001126294] Chr18:2925274 [GRCh38]
Chr18:2925272 [GRCh37]
Chr18:18p11.31
uncertain significance
NM_001375808.2(LPIN2):c.*828T>G single nucleotide variant Majeed syndrome [RCV001126079] Chr18:2919465 [GRCh38]
Chr18:2919463 [GRCh37]
Chr18:18p11.31
uncertain significance
NM_001375808.2(LPIN2):c.*810G>A single nucleotide variant Majeed syndrome [RCV001126080] Chr18:2919483 [GRCh38]
Chr18:2919481 [GRCh37]
Chr18:18p11.31
uncertain significance
NM_001375808.2(LPIN2):c.54C>A (p.Leu18=) single nucleotide variant Majeed syndrome [RCV001126386] Chr18:2960787 [GRCh38]
Chr18:2960785 [GRCh37]
Chr18:18p11.31
uncertain significance
NC_000018.10:g.(?_2926703)_(2929178_?)del deletion Majeed syndrome [RCV001032247] Chr18:2926701..2929176 [GRCh37]
Chr18:18p11.31
pathogenic
NM_001375808.2(LPIN2):c.*167C>T single nucleotide variant Majeed syndrome [RCV001128262] Chr18:2920126 [GRCh38]
Chr18:2920124 [GRCh37]
Chr18:18p11.31
uncertain significance
NM_001375808.2(LPIN2):c.*772G>A single nucleotide variant Majeed syndrome [RCV001122439] Chr18:2919521 [GRCh38]
Chr18:2919519 [GRCh37]
Chr18:18p11.31
uncertain significance
NM_001375808.2(LPIN2):c.*699A>G single nucleotide variant Majeed syndrome [RCV001122440] Chr18:2919594 [GRCh38]
Chr18:2919592 [GRCh37]
Chr18:18p11.31
benign
NM_001375808.2(LPIN2):c.-10+1256G>A single nucleotide variant Majeed syndrome [RCV001128440] Chr18:3011831 [GRCh38]
Chr18:3011829 [GRCh37]
Chr18:18p11.31
uncertain significance
NM_001375808.2(LPIN2):c.*90C>T single nucleotide variant Majeed syndrome [RCV001122534]|not provided [RCV001562293] Chr18:2920203 [GRCh38]
Chr18:2920201 [GRCh37]
Chr18:18p11.31
likely benign|uncertain significance
NM_014646.2(LPIN2):c.2174+16_2174+17insAT insertion Majeed syndrome [RCV001000637] Chr18:2923758..2923759 [GRCh38]
Chr18:2923756..2923757 [GRCh37]
Chr18:18p11.31
benign
NM_014646.2(LPIN2):c.840A>G (p.Arg280=) single nucleotide variant Majeed syndrome [RCV001002522] Chr18:2938020 [GRCh38]
Chr18:2938018 [GRCh37]
Chr18:18p11.31
likely benign|conflicting interpretations of pathogenicity
NM_001375808.2(LPIN2):c.822+171A>T single nucleotide variant not provided [RCV001575474] Chr18:2939309 [GRCh38]
Chr18:2939307 [GRCh37]
Chr18:18p11.31
likely benign
NM_001375808.2(LPIN2):c.2328-132A>G single nucleotide variant not provided [RCV001537221] Chr18:2921779 [GRCh38]
Chr18:2921777 [GRCh37]
Chr18:18p11.31
benign
NM_001375808.2(LPIN2):c.*438C>T single nucleotide variant Majeed syndrome [RCV001126200] Chr18:2919855 [GRCh38]
Chr18:2919853 [GRCh37]
Chr18:18p11.31
uncertain significance
NM_001375808.2(LPIN2):c.2161C>T (p.His721Tyr) single nucleotide variant Majeed syndrome [RCV001126292] Chr18:2923788 [GRCh38]
Chr18:2923786 [GRCh37]
Chr18:18p11.31
uncertain significance
NM_014646.2(LPIN2):c.131A>G (p.Gln44Arg) single nucleotide variant Majeed syndrome [RCV001061567] Chr18:2960710 [GRCh38]
Chr18:2960708 [GRCh37]
Chr18:18p11.31
uncertain significance
NM_001375808.2(LPIN2):c.2655C>A (p.Asp885Glu) single nucleotide variant Majeed syndrome [RCV001220114] Chr18:2920329 [GRCh38]
Chr18:2920327 [GRCh37]
Chr18:18p11.31
uncertain significance
NM_001375808.2(LPIN2):c.*945G>A single nucleotide variant Majeed syndrome [RCV001125108] Chr18:2919348 [GRCh38]
Chr18:2919346 [GRCh37]
Chr18:18p11.31
uncertain significance
NM_001375808.2(LPIN2):c.*855A>G single nucleotide variant Majeed syndrome [RCV001125110] Chr18:2919438 [GRCh38]
Chr18:2919436 [GRCh37]
Chr18:18p11.31
uncertain significance
NM_001375808.2(LPIN2):c.1504C>G (p.Pro502Ala) single nucleotide variant Majeed syndrome [RCV001219382] Chr18:2929111 [GRCh38]
Chr18:2929109 [GRCh37]
Chr18:18p11.31
uncertain significance
NM_014646.2(LPIN2):c.2261A>G (p.Lys754Arg) single nucleotide variant Majeed syndrome [RCV001037929] Chr18:2922113 [GRCh38]
Chr18:2922111 [GRCh37]
Chr18:18p11.31
uncertain significance
NM_001375808.2(LPIN2):c.2573A>G (p.Glu858Gly) single nucleotide variant Majeed syndrome [RCV001125326] Chr18:2920411 [GRCh38]
Chr18:2920409 [GRCh37]
Chr18:18p11.31
uncertain significance
NM_001375808.2(LPIN2):c.*2391G>A single nucleotide variant Majeed syndrome [RCV001122221] Chr18:2917902 [GRCh38]
Chr18:2917900 [GRCh37]
Chr18:18p11.31
uncertain significance
NM_001375808.2(LPIN2):c.*1473T>G single nucleotide variant Majeed syndrome [RCV001125974] Chr18:2918820 [GRCh38]
Chr18:2918818 [GRCh37]
Chr18:18p11.31
uncertain significance
NM_001375808.2(LPIN2):c.*1443G>A single nucleotide variant Majeed syndrome [RCV001125975] Chr18:2918850 [GRCh38]
Chr18:2918848 [GRCh37]
Chr18:18p11.31
uncertain significance
NM_001375808.2(LPIN2):c.*850G>A single nucleotide variant Majeed syndrome [RCV001126078] Chr18:2919443 [GRCh38]
Chr18:2919441 [GRCh37]
Chr18:18p11.31
likely benign
NC_000018.9:g.(?_2656065)_(3215231_?)dup duplication Hypertrophic cardiomyopathy [RCV001032700] Chr18:2656065..3215231 [GRCh37]
Chr18:18p11.32-11.31
uncertain significance
NM_001375808.2(LPIN2):c.*1494G>A single nucleotide variant Majeed syndrome [RCV001125973] Chr18:2918799 [GRCh38]
Chr18:2918797 [GRCh37]
Chr18:18p11.31
uncertain significance
NM_014646.2(LPIN2):c.2623C>A (p.Pro875Thr) single nucleotide variant Majeed syndrome [RCV001054476] Chr18:2920361 [GRCh38]
Chr18:2920359 [GRCh37]
Chr18:18p11.31
uncertain significance
NM_001375808.2(LPIN2):c.601A>G (p.Asn201Asp) single nucleotide variant Majeed syndrome [RCV001123722] Chr18:2940702 [GRCh38]
Chr18:2940700 [GRCh37]
Chr18:18p11.31
uncertain significance
NM_014646.2(LPIN2):c.1169G>C (p.Gly390Ala) single nucleotide variant Majeed syndrome [RCV001040602] Chr18:2934450 [GRCh38]
Chr18:2934448 [GRCh37]
Chr18:18p11.31
uncertain significance
NM_001375808.2(LPIN2):c.*1104C>T single nucleotide variant Majeed syndrome [RCV001122321] Chr18:2919189 [GRCh38]
Chr18:2919187 [GRCh37]
Chr18:18p11.31
uncertain significance
NM_001375808.2(LPIN2):c.*1082G>A single nucleotide variant Majeed syndrome [RCV001122322] Chr18:2919211 [GRCh38]
Chr18:2919209 [GRCh37]
Chr18:18p11.31
benign
NM_014646.2(LPIN2):c.1975G>A (p.Val659Met) single nucleotide variant Majeed syndrome [RCV001055173] Chr18:2924510 [GRCh38]
Chr18:2924508 [GRCh37]
Chr18:18p11.31
uncertain significance
NM_001375808.2(LPIN2):c.*2417C>T single nucleotide variant Majeed syndrome [RCV001127981] Chr18:2917876 [GRCh38]
Chr18:2917874 [GRCh37]
Chr18:18p11.31
uncertain significance
NM_001375808.2(LPIN2):c.*1199G>A single nucleotide variant Majeed syndrome [RCV001128081] Chr18:2919094 [GRCh38]
Chr18:2919092 [GRCh37]
Chr18:18p11.31
uncertain significance
NM_001375808.2(LPIN2):c.*805C>T single nucleotide variant Majeed syndrome [RCV001128168] Chr18:2919488 [GRCh38]
Chr18:2919486 [GRCh37]
Chr18:18p11.31
uncertain significance
NM_001375808.2(LPIN2):c.-10+1349A>G single nucleotide variant Majeed syndrome [RCV001128439] Chr18:3011738 [GRCh38]
Chr18:3011736 [GRCh37]
Chr18:18p11.31
uncertain significance
NC_000018.10:g.(?_2931236)_(2951376_?)del deletion Majeed syndrome [RCV001033090] Chr18:2931234..2951374 [GRCh37]
Chr18:18p11.31
pathogenic
NM_001375808.2(LPIN2):c.*984T>C single nucleotide variant Majeed syndrome [RCV001125107] Chr18:2919309 [GRCh38]
Chr18:2919307 [GRCh37]
Chr18:18p11.31
uncertain significance
NM_001375808.2(LPIN2):c.*520T>C single nucleotide variant Majeed syndrome [RCV001125222] Chr18:2919773 [GRCh38]
Chr18:2919771 [GRCh37]
Chr18:18p11.31
uncertain significance
NM_014646.2(LPIN2):c.2531A>G (p.Lys844Arg) single nucleotide variant Majeed syndrome [RCV001063401] Chr18:2920793 [GRCh38]
Chr18:2920791 [GRCh37]
Chr18:18p11.31
uncertain significance
NM_014646.2(LPIN2):c.1322C>G (p.Ser441Cys) single nucleotide variant Majeed syndrome [RCV001039091] Chr18:2931390 [GRCh38]
Chr18:2931388 [GRCh37]
Chr18:18p11.31
uncertain significance
GRCh37/hg19 18p11.32-11.31(chr18:136226-3415478)x1 copy number loss not provided [RCV001258861] Chr18:136226..3415478 [GRCh37]
Chr18:18p11.32-11.31
pathogenic
GRCh37/hg19 18p11.32-11.31(chr18:2885234-3100389)x3 copy number gain not provided [RCV001258862] Chr18:2885234..3100389 [GRCh37]
Chr18:18p11.32-11.31
uncertain significance
NM_001375808.2(LPIN2):c.698+1G>A single nucleotide variant Majeed syndrome [RCV001333769] Chr18:2940604 [GRCh38]
Chr18:2940602 [GRCh37]
Chr18:18p11.31
pathogenic
NM_001375808.2(LPIN2):c.1710+16G>A single nucleotide variant Majeed syndrome [RCV001287774] Chr18:2927706 [GRCh38]
Chr18:2927704 [GRCh37]
Chr18:18p11.31
likely benign
NM_001375808.2(LPIN2):c.2458A>G (p.Thr820Ala) single nucleotide variant Majeed syndrome [RCV001309787] Chr18:2920866 [GRCh38]
Chr18:2920864 [GRCh37]
Chr18:18p11.31
uncertain significance
NM_001375808.2(LPIN2):c.191T>C (p.Val64Ala) single nucleotide variant Majeed syndrome [RCV001319034] Chr18:2960650 [GRCh38]
Chr18:2960648 [GRCh37]
Chr18:18p11.31
uncertain significance
NM_001375808.2(LPIN2):c.1390A>G (p.Met464Val) single nucleotide variant Majeed syndrome [RCV001298675] Chr18:2931322 [GRCh38]
Chr18:2931320 [GRCh37]
Chr18:18p11.31
uncertain significance
NM_001375808.2(LPIN2):c.1616C>G (p.Pro539Arg) single nucleotide variant Majeed syndrome [RCV001285655] Chr18:2928595 [GRCh38]
Chr18:2928593 [GRCh37]
Chr18:18p11.31
uncertain significance
NM_001375808.2(LPIN2):c.1487A>G (p.His496Arg) single nucleotide variant Majeed syndrome [RCV001300592] Chr18:2929128 [GRCh38]
Chr18:2929126 [GRCh37]
Chr18:18p11.31
uncertain significance
NM_001375808.2(LPIN2):c.2566C>G (p.Leu856Val) single nucleotide variant Majeed syndrome [RCV001314825] Chr18:2920418 [GRCh38]
Chr18:2920416 [GRCh37]
Chr18:18p11.31
uncertain significance
NM_001375808.2(LPIN2):c.578C>T (p.Ala193Val) single nucleotide variant Majeed syndrome [RCV001352500] Chr18:2951067 [GRCh38]
Chr18:2951065 [GRCh37]
Chr18:18p11.31
uncertain significance
NM_001375808.2(LPIN2):c.2174+8C>T single nucleotide variant Majeed syndrome [RCV001396519] Chr18:2923767 [GRCh38]
Chr18:2923765 [GRCh37]
Chr18:18p11.31
likely benign
NM_001375808.2(LPIN2):c.2317G>A (p.Ala773Thr) single nucleotide variant Majeed syndrome [RCV001305020] Chr18:2922057 [GRCh38]
Chr18:2922055 [GRCh37]
Chr18:18p11.31
uncertain significance
NM_001375808.2(LPIN2):c.696del (p.Thr233fs) deletion Majeed syndrome [RCV001420968] Chr18:2940607 [GRCh38]
Chr18:2940605 [GRCh37]
Chr18:18p11.31
pathogenic
NM_001375808.2(LPIN2):c.1332A>G (p.Pro444=) single nucleotide variant Majeed syndrome [RCV001413085] Chr18:2931380 [GRCh38]
Chr18:2931378 [GRCh37]
Chr18:18p11.31
likely benign
NM_001375808.2(LPIN2):c.1712T>A (p.Leu571Gln) single nucleotide variant Majeed syndrome [RCV001370613] Chr18:2926804 [GRCh38]
Chr18:2926802 [GRCh37]
Chr18:18p11.31
uncertain significance
NM_001375808.2(LPIN2):c.445C>T (p.Pro149Ser) single nucleotide variant Majeed syndrome [RCV001370861] Chr18:2951200 [GRCh38]
Chr18:2951198 [GRCh37]
Chr18:18p11.31
uncertain significance
NM_001375808.2(LPIN2):c.133T>G (p.Cys45Gly) single nucleotide variant Majeed syndrome [RCV001372811] Chr18:2960708 [GRCh38]
Chr18:2960706 [GRCh37]
Chr18:18p11.31
uncertain significance
GRCh37/hg19 18p11.32-11.31(chr18:64996-6838315)x1 copy number loss not provided [RCV001537912] Chr18:64996..6838315 [GRCh37]
Chr18:18p11.32-11.31
pathogenic
NM_001375808.2(LPIN2):c.1621-7T>G single nucleotide variant Majeed syndrome [RCV001362266] Chr18:2927818 [GRCh38]
Chr18:2927816 [GRCh37]
Chr18:18p11.31
uncertain significance
NM_001375808.2(LPIN2):c.1456+5G>A single nucleotide variant Majeed syndrome [RCV001322827] Chr18:2931251 [GRCh38]
Chr18:2931249 [GRCh37]
Chr18:18p11.31
uncertain significance
NM_001375808.2(LPIN2):c.658_660del (p.His220del) deletion Majeed syndrome [RCV001364243] Chr18:2940643..2940645 [GRCh38]
Chr18:2940641..2940643 [GRCh37]
Chr18:18p11.31
uncertain significance
NM_001375808.2(LPIN2):c.2090C>T (p.Ser697Leu) single nucleotide variant Majeed syndrome [RCV001344802] Chr18:2923859 [GRCh38]
Chr18:2923857 [GRCh37]
Chr18:18p11.31
uncertain significance
NM_001375808.2(LPIN2):c.195T>A (p.Ile65=) single nucleotide variant Majeed syndrome [RCV001346657] Chr18:2954597 [GRCh38]
Chr18:2954595 [GRCh37]
Chr18:18p11.31
uncertain significance
NM_001375808.2(LPIN2):c.2124C>T (p.Gly708=) single nucleotide variant Majeed syndrome [RCV001342286] Chr18:2923825 [GRCh38]
Chr18:2923823 [GRCh37]
Chr18:18p11.31
uncertain significance
NM_001375808.2(LPIN2):c.777G>T (p.Glu259Asp) single nucleotide variant Majeed syndrome [RCV001304915] Chr18:2939525 [GRCh38]
Chr18:2939523 [GRCh37]
Chr18:18p11.31
uncertain significance
NM_001375808.2(LPIN2):c.944C>T (p.Ala315Val) single nucleotide variant Majeed syndrome [RCV001320667] Chr18:2937916 [GRCh38]
Chr18:2937914 [GRCh37]
Chr18:18p11.31
uncertain significance
NM_001375808.2(LPIN2):c.2336T>C (p.Ile779Thr) single nucleotide variant Majeed syndrome [RCV001342713] Chr18:2921639 [GRCh38]
Chr18:2921637 [GRCh37]
Chr18:18p11.31
uncertain significance
NM_001375808.2(LPIN2):c.1229G>A (p.Gly410Asp) single nucleotide variant Majeed syndrome [RCV001322269] Chr18:2934390 [GRCh38]
Chr18:2934388 [GRCh37]
Chr18:18p11.31
uncertain significance
NM_001375808.2(LPIN2):c.2189T>C (p.Phe730Ser) single nucleotide variant Majeed syndrome [RCV001347412] Chr18:2922185 [GRCh38]
Chr18:2922183 [GRCh37]
Chr18:18p11.31
uncertain significance
NM_001375808.2(LPIN2):c.1754G>C (p.Ser585Thr) single nucleotide variant Majeed syndrome [RCV001302280] Chr18:2926762 [GRCh38]
Chr18:2926760 [GRCh37]
Chr18:18p11.31
uncertain significance
NM_001375808.2(LPIN2):c.2278C>T (p.Arg760Trp) single nucleotide variant Majeed syndrome [RCV001372702] Chr18:2922096 [GRCh38]
Chr18:2922094 [GRCh37]
Chr18:18p11.31
uncertain significance
NM_001375808.2(LPIN2):c.325C>T (p.Pro109Ser) single nucleotide variant Majeed syndrome [RCV001302372] Chr18:2951320 [GRCh38]
Chr18:2951318 [GRCh37]
Chr18:18p11.31
uncertain significance
NM_001375808.2(LPIN2):c.2537A>C (p.Asn846Thr) single nucleotide variant Majeed syndrome [RCV001315110] Chr18:2920787 [GRCh38]
Chr18:2920785 [GRCh37]
Chr18:18p11.31
uncertain significance
NM_001375808.2(LPIN2):c.223G>A (p.Asp75Asn) single nucleotide variant Majeed syndrome [RCV001373428] Chr18:2954569 [GRCh38]
Chr18:2954567 [GRCh37]
Chr18:18p11.31
uncertain significance
NM_001375808.2(LPIN2):c.1322C>A (p.Ser441Tyr) single nucleotide variant Majeed syndrome [RCV001368496] Chr18:2931390 [GRCh38]
Chr18:2931388 [GRCh37]
Chr18:18p11.31
uncertain significance
NM_001375808.2(LPIN2):c.1637G>A (p.Trp546Ter) single nucleotide variant Majeed syndrome [RCV001331872] Chr18:2927795 [GRCh38]
Chr18:2927793 [GRCh37]
Chr18:18p11.31
pathogenic
NM_001375808.2(LPIN2):c.125G>C (p.Ser42Thr) single nucleotide variant Majeed syndrome [RCV001339614] Chr18:2960716 [GRCh38]
Chr18:2960714 [GRCh37]
Chr18:18p11.31
uncertain significance
Single allele deletion Deletion of short arm of chromosome 18 [RCV001391667] Chr18:2656075..13885536 [GRCh37]
Chr18:18p11.32-11.21
pathogenic
NM_001375808.2(LPIN2):c.199A>G (p.Ile67Val) single nucleotide variant Majeed syndrome [RCV001299547] Chr18:2954593 [GRCh38]
Chr18:2954591 [GRCh37]
Chr18:18p11.31
uncertain significance
NM_001375808.2(LPIN2):c.968C>T (p.Thr323Ile) single nucleotide variant Majeed syndrome [RCV001286673] Chr18:2937892 [GRCh38]
Chr18:2937890 [GRCh37]
Chr18:18p11.31
uncertain significance
NM_001375808.2(LPIN2):c.769A>G (p.Arg257Gly) single nucleotide variant Majeed syndrome [RCV001421017] Chr18:2939533 [GRCh38]
Chr18:2939531 [GRCh37]
Chr18:18p11.31
uncertain significance
NM_001375808.2(LPIN2):c.1176C>A (p.His392Gln) single nucleotide variant Majeed syndrome [RCV001371466] Chr18:2934443 [GRCh38]
Chr18:2934441 [GRCh37]
Chr18:18p11.31
uncertain significance
NM_001375808.2(LPIN2):c.2246A>G (p.His749Arg) single nucleotide variant Majeed syndrome [RCV001309916] Chr18:2922128 [GRCh38]
Chr18:2922126 [GRCh37]
Chr18:18p11.31
uncertain significance
NM_001375808.2(LPIN2):c.1435G>A (p.Glu479Lys) single nucleotide variant Majeed syndrome [RCV001367372] Chr18:2931277 [GRCh38]
Chr18:2931275 [GRCh37]
Chr18:18p11.31
uncertain significance
NC_000018.9:g.(?_2920271)_(2931461_?)del deletion Majeed syndrome [RCV001316311] Chr18:2920271..2931461 [GRCh37]
Chr18:18p11.31
uncertain significance
NM_001375808.2(LPIN2):c.1775A>G (p.Lys592Arg) single nucleotide variant Majeed syndrome [RCV001312969] Chr18:2926741 [GRCh38]
Chr18:2926739 [GRCh37]
Chr18:18p11.31
uncertain significance
NM_001375808.2(LPIN2):c.193-18A>T single nucleotide variant Majeed syndrome [RCV001413838] Chr18:2954617 [GRCh38]
Chr18:2954615 [GRCh37]
Chr18:18p11.31
likely benign
NM_001375808.2(LPIN2):c.2119C>T (p.Leu707=) single nucleotide variant Majeed syndrome [RCV001490218] Chr18:2923830 [GRCh38]
Chr18:2923828 [GRCh37]
Chr18:18p11.31
likely benign
NM_001375808.2(LPIN2):c.2087+9A>G single nucleotide variant Majeed syndrome [RCV001450495] Chr18:2924389 [GRCh38]
Chr18:2924387 [GRCh37]
Chr18:18p11.31
likely benign
NM_001375808.2(LPIN2):c.552C>T (p.Gly184=) single nucleotide variant Majeed syndrome [RCV001458174] Chr18:2951093 [GRCh38]
Chr18:2951091 [GRCh37]
Chr18:18p11.31
likely benign
NM_001375808.2(LPIN2):c.432G>A (p.Glu144=) single nucleotide variant Majeed syndrome [RCV001404934] Chr18:2951213 [GRCh38]
Chr18:2951211 [GRCh37]
Chr18:18p11.31
likely benign
NM_001375808.2(LPIN2):c.2481T>C (p.Cys827=) single nucleotide variant Majeed syndrome [RCV001506399] Chr18:2920843 [GRCh38]
Chr18:2920841 [GRCh37]
Chr18:18p11.31
likely benign
NM_001375808.2(LPIN2):c.1410C>G (p.Thr470=) single nucleotide variant Majeed syndrome [RCV001457831] Chr18:2931302 [GRCh38]
Chr18:2931300 [GRCh37]
Chr18:18p11.31
likely benign
NM_001375808.2(LPIN2):c.1356A>G (p.Ala452=) single nucleotide variant Majeed syndrome [RCV001503376] Chr18:2931356 [GRCh38]
Chr18:2931354 [GRCh37]
Chr18:18p11.31
likely benign
NM_001375808.2(LPIN2):c.1169-8T>C single nucleotide variant Majeed syndrome [RCV001483540] Chr18:2934458 [GRCh38]
Chr18:2934456 [GRCh37]
Chr18:18p11.31
likely benign
NM_001375808.2(LPIN2):c.1956C>T (p.His652=) single nucleotide variant Majeed syndrome [RCV001506680] Chr18:2924529 [GRCh38]
Chr18:2924527 [GRCh37]
Chr18:18p11.31
likely benign
NM_001375808.2(LPIN2):c.1143A>G (p.Lys381=) single nucleotide variant Majeed syndrome [RCV001500703] Chr18:2937717 [GRCh38]
Chr18:2937715 [GRCh37]
Chr18:18p11.31
likely benign
NM_001375808.2(LPIN2):c.2214C>T (p.Ile738=) single nucleotide variant Majeed syndrome [RCV001431226] Chr18:2922160 [GRCh38]
Chr18:2922158 [GRCh37]
Chr18:18p11.31
likely benign
NM_001375808.2(LPIN2):c.1711-97A>C single nucleotide variant not provided [RCV001539038] Chr18:2926902 [GRCh38]
Chr18:2926900 [GRCh37]
Chr18:18p11.31
likely benign
NM_001375808.2(LPIN2):c.561C>T (p.Ser187=) single nucleotide variant Majeed syndrome [RCV001493078] Chr18:2951084 [GRCh38]
Chr18:2951082 [GRCh37]
Chr18:18p11.31
likely benign
NM_001375808.2(LPIN2):c.27G>C (p.Gly9=) single nucleotide variant Majeed syndrome [RCV001472330] Chr18:2960814 [GRCh38]
Chr18:2960812 [GRCh37]
Chr18:18p11.31
likely benign
NM_001375808.2(LPIN2):c.588A>G (p.Ala196=) single nucleotide variant Majeed syndrome [RCV001491979]|not provided [RCV001547911] Chr18:2951057 [GRCh38]
Chr18:2951055 [GRCh37]
Chr18:18p11.31
likely benign
NM_001375808.2(LPIN2):c.795G>A (p.Thr265=) single nucleotide variant Majeed syndrome [RCV001501326] Chr18:2939507 [GRCh38]
Chr18:2939505 [GRCh37]
Chr18:18p11.31
likely benign
NM_001375808.2(LPIN2):c.2342_2346del (p.Lys781fs) microsatellite Majeed syndrome [RCV001381032] Chr18:2921629..2921633 [GRCh38]
Chr18:2921627..2921631 [GRCh37]
Chr18:18p11.31
pathogenic
NM_001375808.2(LPIN2):c.288+2T>G single nucleotide variant Majeed syndrome [RCV001378100] Chr18:2954502 [GRCh38]
Chr18:2954500 [GRCh37]
Chr18:18p11.31
likely pathogenic
NM_001375808.2(LPIN2):c.838C>T (p.Arg280Ter) single nucleotide variant Majeed syndrome [RCV001380459] Chr18:2938022 [GRCh38]
Chr18:2938020 [GRCh37]
Chr18:18p11.31
pathogenic
NM_001375808.2(LPIN2):c.1758C>T (p.Asp586=) single nucleotide variant Majeed syndrome [RCV001449543] Chr18:2926758 [GRCh38]
Chr18:2926756 [GRCh37]
Chr18:18p11.31
likely benign
NM_001375808.2(LPIN2):c.825C>T (p.Val275=) single nucleotide variant Majeed syndrome [RCV001402549] Chr18:2938035 [GRCh38]
Chr18:2938033 [GRCh37]
Chr18:18p11.31
likely benign
NM_001375808.2(LPIN2):c.1843G>T (p.Glu615Ter) single nucleotide variant Majeed syndrome [RCV001388894] Chr18:2925319 [GRCh38]
Chr18:2925317 [GRCh37]
Chr18:18p11.31
pathogenic
NM_001375808.2(LPIN2):c.2031C>T (p.Tyr677=) single nucleotide variant Majeed syndrome [RCV001411521] Chr18:2924454 [GRCh38]
Chr18:2924452 [GRCh37]
Chr18:18p11.31
likely benign
NC_000018.9:g.(?_2921511)_(2938055_?)del deletion Majeed syndrome [RCV001377669] Chr18:2921511..2938055 [GRCh37]
Chr18:18p11.31
likely pathogenic
NM_001375808.2(LPIN2):c.540A>G (p.Thr180=) single nucleotide variant Majeed syndrome [RCV001461552] Chr18:2951105 [GRCh38]
Chr18:2951103 [GRCh37]
Chr18:18p11.31
likely benign
NM_001375808.2(LPIN2):c.1860C>T (p.Asp620=) single nucleotide variant Majeed syndrome [RCV001479110] Chr18:2925302 [GRCh38]
Chr18:2925300 [GRCh37]
Chr18:18p11.31
likely benign
NM_001375808.2(LPIN2):c.1338C>T (p.Ser446=) single nucleotide variant Majeed syndrome [RCV001496336] Chr18:2931374 [GRCh38]
Chr18:2931372 [GRCh37]
Chr18:18p11.31
likely benign
NM_001375808.2(LPIN2):c.1722C>T (p.Ser574=) single nucleotide variant Majeed syndrome [RCV001510798] Chr18:2926794 [GRCh38]
Chr18:2926792 [GRCh37]
Chr18:18p11.31
benign
NM_001375808.2(LPIN2):c.590+9C>G single nucleotide variant Majeed syndrome [RCV001470797] Chr18:2951046 [GRCh38]
Chr18:2951044 [GRCh37]
Chr18:18p11.31
likely benign
NM_001375808.2(LPIN2):c.2007C>T (p.Thr669=) single nucleotide variant Majeed syndrome [RCV001497720] Chr18:2924478 [GRCh38]
Chr18:2924476 [GRCh37]
Chr18:18p11.31
likely benign
NM_001375808.2(LPIN2):c.422T>C (p.Leu141Ser) single nucleotide variant Majeed syndrome [RCV001489366] Chr18:2951223 [GRCh38]
Chr18:2951221 [GRCh37]
Chr18:18p11.31
likely benign
NM_001375808.2(LPIN2):c.1268+13T>C single nucleotide variant Majeed syndrome [RCV001465407] Chr18:2934338 [GRCh38]
Chr18:2934336 [GRCh37]
Chr18:18p11.31
likely benign
NM_001375808.2(LPIN2):c.2202G>A (p.Ser734=) single nucleotide variant Majeed syndrome [RCV001436078] Chr18:2922172 [GRCh38]
Chr18:2922170 [GRCh37]
Chr18:18p11.31
likely benign
NM_001375808.2(LPIN2):c.705T>C (p.Tyr235=) single nucleotide variant Majeed syndrome [RCV001429424] Chr18:2939597 [GRCh38]
Chr18:2939595 [GRCh37]
Chr18:18p11.31
likely benign
NM_001375808.2(LPIN2):c.1268+9G>A single nucleotide variant Majeed syndrome [RCV001498685] Chr18:2934342 [GRCh38]
Chr18:2934340 [GRCh37]
Chr18:18p11.31
likely benign
NM_001375808.2(LPIN2):c.1710+7G>A single nucleotide variant Majeed syndrome [RCV001434332] Chr18:2927715 [GRCh38]
Chr18:2927713 [GRCh37]
Chr18:18p11.31
likely benign
NM_001375808.2(LPIN2):c.2493C>T (p.Thr831=) single nucleotide variant Majeed syndrome [RCV001426212] Chr18:2920831 [GRCh38]
Chr18:2920829 [GRCh37]
Chr18:18p11.31
likely benign
NM_001375808.2(LPIN2):c.2442+8T>C single nucleotide variant Majeed syndrome [RCV001485512] Chr18:2921525 [GRCh38]
Chr18:2921523 [GRCh37]
Chr18:18p11.31
likely benign
NM_001375808.2(LPIN2):c.1821C>T (p.Asp607=) single nucleotide variant Majeed syndrome [RCV001398959] Chr18:2925341 [GRCh38]
Chr18:2925339 [GRCh37]
Chr18:18p11.31
likely benign
NM_001375808.2(LPIN2):c.1155G>A (p.Pro385=) single nucleotide variant Majeed syndrome [RCV001499741] Chr18:2937705 [GRCh38]
Chr18:2937703 [GRCh37]
Chr18:18p11.31
likely benign
NM_001375808.2(LPIN2):c.417C>T (p.His139=) single nucleotide variant Majeed syndrome [RCV001501363] Chr18:2951228 [GRCh38]
Chr18:2951226 [GRCh37]
Chr18:18p11.31
likely benign
NM_001375808.2(LPIN2):c.1887C>T (p.His629=) single nucleotide variant Majeed syndrome [RCV001485710] Chr18:2925275 [GRCh38]
Chr18:2925273 [GRCh37]
Chr18:18p11.31
likely benign

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:14450 AgrOrtholog
COSMIC LPIN2 COSMIC
Ensembl Genes ENSG00000101577 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000261596 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000463810 UniProtKB/TrEMBL
  ENSP00000504857 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000261596 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000584915 UniProtKB/TrEMBL
  ENST00000677752 ENTREZGENE, UniProtKB/Swiss-Prot
GTEx ENSG00000101577 GTEx
HGNC ID HGNC:14450 ENTREZGENE
Human Proteome Map LPIN2 Human Proteome Map
InterPro HAD-like_sf UniProtKB/Swiss-Prot
  LIPIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Lipin_mid UniProtKB/Swiss-Prot
  Lipin_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LNS2 UniProtKB/Swiss-Prot
  LNS2/PITP UniProtKB/Swiss-Prot
KEGG Report hsa:9663 UniProtKB/Swiss-Prot
NCBI Gene 9663 ENTREZGENE
OMIM 605519 OMIM
  609628 OMIM
PANTHER PTHR12181 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Lipin_mid UniProtKB/Swiss-Prot
  Lipin_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LNS2 UniProtKB/Swiss-Prot
PharmGKB PA30437 PharmGKB
SMART LNS2 UniProtKB/Swiss-Prot
Superfamily-SCOP SSF56784 UniProtKB/Swiss-Prot
UniProt J3QQN0_HUMAN UniProtKB/TrEMBL
  LPIN2_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary A7MD25 UniProtKB/Swiss-Prot
  D3DUH3 UniProtKB/Swiss-Prot