LIFR (LIF receptor subunit alpha) - Rat Genome Database

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Gene: LIFR (LIF receptor subunit alpha) Homo sapiens
Analyze
Symbol: LIFR
Name: LIF receptor subunit alpha
RGD ID: 1354198
HGNC Page HGNC:6597
Description: Enables ciliary neurotrophic factor receptor binding activity and growth factor binding activity. Contributes to leukemia inhibitory factor receptor activity and oncostatin-M receptor activity. Involved in ciliary neurotrophic factor-mediated signaling pathway; leukemia inhibitory factor signaling pathway; and oncostatin-M-mediated signaling pathway. Acts upstream of or within cytokine-mediated signaling pathway and positive regulation of cell population proliferation. Located in extracellular exosome. Part of receptor complex. Implicated in osteochondrodysplasia.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: CD118; CD118 antigen; FLJ98106; FLJ99923; leukemia inhibitory factor receptor; leukemia inhibitory factor receptor alpha; LIF receptor; LIF receptor alpha; LIF-R; SJS2; STWS; SWS
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38538,474,668 - 38,608,403 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl538,474,668 - 38,608,354 (-)EnsemblGRCh38hg38GRCh38
GRCh37538,474,770 - 38,595,507 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36538,510,822 - 38,631,253 (-)NCBINCBI36Build 36hg18NCBI36
Build 34538,515,661 - 38,631,253NCBI
Celera538,361,644 - 38,482,099 (-)NCBICelera
Cytogenetic Map5p13.1NCBI
HuRef538,427,081 - 38,547,293 (-)NCBIHuRef
CHM1_1538,476,985 - 38,597,458 (-)NCBICHM1_1
T2T-CHM13v2.0538,723,737 - 38,857,447 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(1->4)-beta-D-glucan  (ISO)
1,1-dichloroethene  (ISO)
1,2-dichloroethane  (ISO)
1,2-dimethylhydrazine  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP,ISO)
17beta-hydroxy-5alpha-androstan-3-one  (EXP)
2,2',4,4',5,5'-hexachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,6-dinitrotoluene  (ISO)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
3,4-methylenedioxymethamphetamine  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (EXP)
3H-1,2-dithiole-3-thione  (ISO)
4,4'-sulfonyldiphenol  (ISO)
5-fluorouracil  (ISO)
acetamide  (ISO)
acetic acid  (ISO)
acrolein  (EXP)
aflatoxin B1  (EXP)
all-trans-retinoic acid  (EXP,ISO)
alpha-pinene  (EXP)
amitrole  (ISO)
ammonium chloride  (ISO)
aristolochic acid A  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
arsenite(3-)  (ISO)
asbestos  (EXP)
atrazine  (ISO)
belinostat  (EXP)
Benoxacor  (ISO)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP)
bexarotene  (ISO)
bis(2-chloroethyl) sulfide  (ISO)
bis(2-ethylhexyl) phthalate  (EXP,ISO)
bisphenol A  (EXP,ISO)
bromochloroacetic acid  (ISO)
cadmium atom  (EXP)
cadmium dichloride  (EXP)
calcitriol  (EXP)
carbamazepine  (EXP)
carbon nanotube  (ISO)
CGP 52608  (EXP)
chlordecone  (ISO)
chlorpyrifos  (ISO)
choline  (ISO)
cisplatin  (EXP)
clofibrate  (ISO)
crocidolite asbestos  (ISO)
cyclosporin A  (EXP,ISO)
dexamethasone  (EXP)
dibenz[a,h]anthracene  (ISO)
dichloroacetic acid  (ISO)
diclofenac  (ISO)
dicrotophos  (EXP)
dioxygen  (ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP)
entinostat  (EXP)
ethanol  (ISO)
fenofibrate  (ISO)
folic acid  (ISO)
fumonisin B1  (ISO)
furan  (ISO)
gemcitabine  (EXP)
genistein  (ISO)
gentamycin  (EXP,ISO)
glyphosate  (EXP,ISO)
indometacin  (EXP)
L-methionine  (ISO)
lead(0)  (EXP)
letrozole  (EXP)
lipopolysaccharide  (EXP,ISO)
maneb  (ISO)
mercury dibromide  (EXP)
methimazole  (ISO)
methylmercury chloride  (EXP)
nevirapine  (ISO)
nickel sulfate  (EXP)
oxybenzone  (EXP)
ozone  (EXP,ISO)
p-chloromercuribenzoic acid  (EXP)
paclitaxel  (EXP)
panobinostat  (EXP)
paracetamol  (EXP,ISO)
paraquat  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
perfluorooctanoic acid  (EXP)
permethrin  (ISO)
phenobarbital  (ISO)
phenylmercury acetate  (EXP)
piperonyl butoxide  (ISO)
pirinixic acid  (ISO)
pregnenolone 16alpha-carbonitrile  (ISO)
progesterone  (ISO)
pyridaben  (ISO)
quercetin  (EXP)
resveratrol  (ISO)
retinyl acetate  (ISO)
rofecoxib  (EXP)
S-(1,2-dichlorovinyl)-L-cysteine  (EXP)
SB 431542  (EXP)
sevoflurane  (ISO)
silicon dioxide  (ISO)
sodium arsenate  (ISO)
sodium arsenite  (EXP,ISO)
starch  (ISO)
sulfadimethoxine  (ISO)
tamoxifen  (ISO)
tert-butyl hydroperoxide  (EXP)
testosterone  (EXP)
tetrachloroethene  (ISO)
tetrachloromethane  (ISO)
thioacetamide  (ISO)
titanium dioxide  (ISO)
triadimefon  (ISO)
trichloroethene  (ISO)
trichostatin A  (EXP)
troglitazone  (ISO)
urethane  (EXP)
valproic acid  (EXP,ISO)
vinclozolin  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal autonomic nervous system physiology  (IAGP)
Abnormal cortical bone morphology  (IAGP)
Abnormal metaphyseal trabeculation  (IAGP)
Abnormal metaphysis morphology  (IAGP)
Abnormality of temperature regulation  (IAGP)
Abnormality of the dentition  (IAGP)
Abnormality of the eye  (IAGP)
Abnormality of vision  (IAGP)
Absent corneal reflex  (IAGP)
Absent patellar reflexes  (IAGP)
Adducted thumb  (IAGP)
Anteverted nares  (IAGP)
Apnea  (IAGP)
Asthma  (IAGP)
Autosomal recessive inheritance  (IAGP)
Blotching pigmentation of the skin  (IAGP)
Bowing of the long bones  (IAGP)
Brachydactyly  (IAGP)
Broad ischia  (IAGP)
Camptodactyly  (IAGP)
Camptodactyly of finger  (IAGP)
Carious teeth  (IAGP)
Clubbing  (IAGP)
Congenital onset  (IAGP)
Contracture of the proximal interphalangeal joint of the 5th finger  (IAGP)
Death in infancy  (IAGP)
Decreased corneal reflex  (IAGP)
Decreased lacrimation  (IAGP)
Deeply set eye  (IAGP)
Diaphyseal undertubulation  (IAGP)
Dysphagia  (IAGP)
Ectopic thyroid  (IAGP)
Elbow flexion contracture  (IAGP)
Enlarged joints  (IAGP)
Feeding difficulties  (IAGP)
Feeding difficulties in infancy  (IAGP)
Femoral bowing  (IAGP)
Fever  (IAGP)
Flared metaphysis  (IAGP)
Flexion contracture  (IAGP)
Flexion contracture of finger  (IAGP)
Flexion contracture of toe  (IAGP)
Frontal bossing  (IAGP)
Full cheeks  (IAGP)
Generalized hypotonia  (IAGP)
Genu valgum  (IAGP)
Global developmental delay  (IAGP)
Hoarse voice  (IAGP)
Hyperhidrosis  (IAGP)
Hypernasal speech  (IAGP)
Hypohidrosis  (IAGP)
Hypoplastic iliac body  (IAGP)
Hypothyroidism  (IAGP)
Hypotonia  (IAGP)
Impaired pain sensation  (IAGP)
Intellectual disability  (IAGP)
Intrauterine growth retardation  (IAGP)
Knee flexion contracture  (IAGP)
Lacrimation abnormality  (IAGP)
Limitation of joint mobility  (IAGP)
Low hanging columella  (IAGP)
Low-set ears  (IAGP)
Malar flattening  (IAGP)
Metaphyseal rarefaction  (IAGP)
Metaphyseal widening  (IAGP)
Micrognathia  (IAGP)
Micromelia  (IAGP)
Midface retrusion  (IAGP)
Milia  (IAGP)
Myotonia  (IAGP)
Oligohydramnios  (IAGP)
Opacification of the corneal stroma  (IAGP)
Osteopenia  (IAGP)
Osteoporosis  (IAGP)
Ovoid vertebral bodies  (IAGP)
Paresthesia  (IAGP)
Pathologic fracture  (IAGP)
Premature skin wrinkling  (IAGP)
Pulmonary arterial hypertension  (IAGP)
Pulmonary arterial medial hypertrophy  (IAGP)
Pulmonary hypoplasia  (IAGP)
Pursed lips  (IAGP)
Recurrent fever  (IAGP)
Recurrent fractures  (IAGP)
Recurrent infections  (IAGP)
Respiratory distress  (IAGP)
Respiratory insufficiency  (IAGP)
Sacral dimple  (IAGP)
Scoliosis  (IAGP)
Seizure  (IAGP)
Short long bone  (IAGP)
Short neck  (IAGP)
Short nose  (IAGP)
Short palpebral fissure  (IAGP)
Short phalanx of finger  (IAGP)
Short stature  (IAGP)
Short tibia  (IAGP)
Single transverse palmar crease  (IAGP)
Skeletal dysplasia  (IAGP)
Smooth tongue  (IAGP)
Sparse hair  (IAGP)
Square face  (IAGP)
Talipes  (IAGP)
Talipes equinovarus  (IAGP)
Talipes valgus  (IAGP)
Thickened cortex of long bones  (IAGP)
Thin ribs  (IAGP)
Thin skin  (IAGP)
Thin vermilion border  (IAGP)
Tibial bowing  (IAGP)
Trismus  (IAGP)
Ulnar deviation of finger  (IAGP)
Wide nasal base  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Null leukemia inhibitory factor receptor (LIFR) mutations in Stuve-Wiedemann/Schwartz-Jampel type 2 syndrome. Dagoneau N, etal., Am J Hum Genet. 2004 Feb;74(2):298-305. Epub 2004 Jan 21.
2. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
3. Increased expression of IL-6 and LIF in the hypertrophied left ventricle of TGR(mRen2)27 and SHR rats. Kurdi M, etal., Mol Cell Biochem. 2005 Jan;269(1-2):95-101.
4. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
5. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
6. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
7. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
8. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
9. Effect of tea polyphenol on cytokine gene expression in rats with alcoholic liver disease. Zhang XG, etal., Hepatobiliary Pancreat Dis Int. 2006 May;5(2):268-72.
Additional References at PubMed
PMID:1536831   PMID:1542794   PMID:1915266   PMID:7512571   PMID:7777512   PMID:7957045   PMID:8276403   PMID:8547494   PMID:8583009   PMID:8864865   PMID:8999038   PMID:9346946  
PMID:9525740   PMID:9920829   PMID:10101017   PMID:10383413   PMID:10800945   PMID:10854707   PMID:10858440   PMID:11042511   PMID:11285233   PMID:11730732   PMID:11812136   PMID:11834704  
PMID:11834739   PMID:11943154   PMID:12047380   PMID:12574225   PMID:12601009   PMID:12643274   PMID:12707266   PMID:12707269   PMID:14504285   PMID:15044601   PMID:15180980   PMID:15184896  
PMID:15342556   PMID:16051226   PMID:16344560   PMID:16759928   PMID:16949591   PMID:17028186   PMID:17332938   PMID:17436251   PMID:18775332   PMID:19453261   PMID:19733004   PMID:19879916  
PMID:20237496   PMID:20584990   PMID:20654748   PMID:21617854   PMID:21873635   PMID:21966484   PMID:21971603   PMID:22268729   PMID:22535017   PMID:22829597   PMID:23001183   PMID:23382563  
PMID:23533145   PMID:23579219   PMID:24074901   PMID:24618404   PMID:24802752   PMID:25092123   PMID:25145448   PMID:25514345   PMID:25749520   PMID:25790555   PMID:25868946   PMID:26060100  
PMID:26249360   PMID:26285796   PMID:26329521   PMID:26496610   PMID:26537802   PMID:27082016   PMID:27375070   PMID:27903796   PMID:28244758   PMID:28334964   PMID:28432985   PMID:28514442  
PMID:29038846   PMID:29117863   PMID:29363569   PMID:29507755   PMID:29603493   PMID:29751081   PMID:29902078   PMID:29959592   PMID:30177834   PMID:30245131   PMID:30692635   PMID:30745168  
PMID:30833792   PMID:30851421   PMID:30938676   PMID:31301086   PMID:31557600   PMID:31854204   PMID:32179912   PMID:32788342   PMID:32827446   PMID:32963351   PMID:33874956   PMID:33914392  
PMID:33957083   PMID:33961781   PMID:34079125   PMID:34299191   PMID:34390320   PMID:34921145   PMID:35384245   PMID:35680099   PMID:35696571   PMID:35950514   PMID:36104590   PMID:36417404  
PMID:36924393   PMID:37357760   PMID:38494064   PMID:38914806  


Genomics

Comparative Map Data
LIFR
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38538,474,668 - 38,608,403 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl538,474,668 - 38,608,354 (-)EnsemblGRCh38hg38GRCh38
GRCh37538,474,770 - 38,595,507 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36538,510,822 - 38,631,253 (-)NCBINCBI36Build 36hg18NCBI36
Build 34538,515,661 - 38,631,253NCBI
Celera538,361,644 - 38,482,099 (-)NCBICelera
Cytogenetic Map5p13.1NCBI
HuRef538,427,081 - 38,547,293 (-)NCBIHuRef
CHM1_1538,476,985 - 38,597,458 (-)NCBICHM1_1
T2T-CHM13v2.0538,723,737 - 38,857,447 (-)NCBIT2T-CHM13v2.0
Lifr
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39157,120,091 - 7,226,970 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl157,120,095 - 7,226,970 (+)EnsemblGRCm39 Ensembl
GRCm38157,090,610 - 7,197,489 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl157,090,614 - 7,197,489 (+)EnsemblGRCm38mm10GRCm38
MGSCv37157,079,572 - 7,147,489 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36157,087,757 - 7,138,433 (+)NCBIMGSCv36mm8
Celera156,977,793 - 7,045,762 (+)NCBICelera
Cytogenetic Map15A1NCBI
cM Map153.46NCBI
Lifr
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8257,951,787 - 58,020,357 (+)NCBIGRCr8
mRatBN7.2256,224,393 - 56,292,988 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl256,250,120 - 56,286,699 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx263,340,495 - 63,390,488 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0261,410,670 - 61,461,110 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0256,411,932 - 56,462,624 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0256,424,910 - 56,489,346 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl256,426,367 - 56,489,415 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0276,165,154 - 76,229,631 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4256,426,058 - 56,477,198 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1256,354,290 - 56,405,431 (+)NCBI
Celera251,855,443 - 51,906,055 (+)NCBICelera
Cytogenetic Map2q16NCBI
Lifr
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495542623,047,167 - 23,116,891 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495542623,045,867 - 23,093,694 (-)NCBIChiLan1.0ChiLan1.0
LIFR
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2471,780,323 - 71,863,299 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1569,933,979 - 70,016,932 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0571,817,431 - 71,899,101 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1576,878,633 - 76,934,893 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl576,878,633 - 76,928,267 (+)Ensemblpanpan1.1panPan2
LIFR
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1470,328,963 - 70,376,127 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl470,267,514 - 70,376,127 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha470,004,435 - 70,051,591 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0470,845,522 - 70,892,699 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl470,839,649 - 70,893,245 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1470,593,619 - 70,640,769 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0470,707,131 - 70,754,284 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0471,245,697 - 71,292,862 (+)NCBIUU_Cfam_GSD_1.0
Lifr
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024407213227,678,883 - 227,719,656 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365183,652,152 - 3,693,078 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365183,651,630 - 3,693,072 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
LOC102167255
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1623,634,298 - 23,804,854 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11623,627,700 - 23,672,724 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21624,852,896 - 24,857,618 (+)NCBISscrofa10.2Sscrofa10.2susScr3
LIFR
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1437,307,753 - 37,385,489 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl437,314,347 - 37,362,137 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366607127,670,489 - 27,746,669 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Lifr
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462475916,410,687 - 16,472,014 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462475916,368,390 - 16,478,486 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in LIFR
979 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001127671.2(LIFR):c.975C>T (p.Thr325=) single nucleotide variant not provided [RCV001394449] Chr5:38510480 [GRCh38]
Chr5:38510582 [GRCh37]
Chr5:5p13.1		 likely benign
LIFR, 1-BP INS, 653T insertion Stuve-Wiedemann syndrome [RCV000015545] Chr5:5p13.1 pathogenic
NM_001127671.2(LIFR):c.1789C>T (p.Arg597Ter) single nucleotide variant Stuve-Wiedemann syndrome [RCV000015546]|not provided [RCV001386455] Chr5:38496478 [GRCh38]
Chr5:38496580 [GRCh37]
Chr5:5p13.1		 pathogenic
NM_001127671.2(LIFR):c.2013dup (p.Met672fs) duplication Stuve-Wiedemann syndrome [RCV000015547]|not provided [RCV001851876] Chr5:38493657..38493658 [GRCh38]
Chr5:38493759..38493760 [GRCh37]
Chr5:5p13.1		 pathogenic
NM_001127671.2(LIFR):c.171_174del (p.Asn58fs) microsatellite Stuve-Wiedemann syndrome [RCV000015548]|not provided [RCV002513065] Chr5:38528809..38528812 [GRCh38]
Chr5:38528911..38528914 [GRCh37]
Chr5:5p13.1		 pathogenic
NM_001127671.2(LIFR):c.1182ATT[2] (p.Leu396del) microsatellite not provided [RCV000729390] Chr5:38506006..38506008 [GRCh38]
Chr5:38506108..38506110 [GRCh37]
Chr5:5p13.1		 uncertain significance
GRCh38/hg38 5p14.1-q11.1(chr5:26593632-50288555)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051834]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051834]|See cases [RCV000051834] Chr5:26593632..50288555 [GRCh38]
Chr5:26593741..49584389 [GRCh37]
Chr5:26629498..49620146 [NCBI36]
Chr5:5p14.1-q11.1		 pathogenic
GRCh38/hg38 5p13.2-12(chr5:35700480-45260029)x3 copy number gain See cases [RCV000051835] Chr5:35700480..45260029 [GRCh38]
Chr5:35700582..45260131 [GRCh37]
Chr5:35736339..45295888 [NCBI36]
Chr5:5p13.2-12		 pathogenic
GRCh38/hg38 5p13.2-q11.1(chr5:36374107-51103841)x3 copy number gain See cases [RCV000051836] Chr5:36374107..51103841 [GRCh38]
Chr5:36374209..50399675 [GRCh37]
Chr5:36409966..50435432 [NCBI36]
Chr5:5p13.2-q11.1		 pathogenic
GRCh38/hg38 5p13.2-13.1(chr5:37016043-39383281)x3 copy number gain See cases [RCV000051837] Chr5:37016043..39383281 [GRCh38]
Chr5:37016145..39383383 [GRCh37]
Chr5:37051902..39419140 [NCBI36]
Chr5:5p13.2-13.1		 pathogenic
GRCh38/hg38 5p15.33-12(chr5:54839-45649861)x3 copy number gain See cases [RCV000051810] Chr5:54839..45649861 [GRCh38]
Chr5:54954..45649963 [GRCh37]
Chr5:107954..45685720 [NCBI36]
Chr5:5p15.33-12		 pathogenic
NM_002310.5(LIFR):c.260C>T (p.Ser87Phe) single nucleotide variant Malignant melanoma [RCV000066918] Chr5:38527292 [GRCh38]
Chr5:38527394 [GRCh37]
Chr5:38563151 [NCBI36]
Chr5:5p13.1		 not provided
NM_001127671.2(LIFR):c.2986G>A (p.Val996Ile) single nucleotide variant not provided [RCV002287940] Chr5:38481903 [GRCh38]
Chr5:38482005 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.1121+1G>A single nucleotide variant not provided [RCV000171519] Chr5:38506502 [GRCh38]
Chr5:38506604 [GRCh37]
Chr5:5p13.1		 likely pathogenic
NM_001127671.2(LIFR):c.1899A>G (p.Ile633Met) single nucleotide variant Connective tissue disorder [RCV002277344]|Stuve-Wiedemann syndrome [RCV000265907]|Stüve-Wiedemann syndrome 1 [RCV003103740]|not provided [RCV000443237]|not specified [RCV000174730] Chr5:38493772 [GRCh38]
Chr5:38493874 [GRCh37]
Chr5:5p13.1		 benign|likely benign
NM_001127671.2(LIFR):c.143-37GT[15] microsatellite Connective tissue disorder [RCV002277390]|Stuve-Wiedemann syndrome [RCV001832014]|not provided [RCV001522166]|not specified [RCV000177150] Chr5:38528849..38528850 [GRCh38]
Chr5:38528951..38528952 [GRCh37]
Chr5:5p13.1		 benign|likely benign
NM_001127671.2(LIFR):c.3288C>T (p.Asn1096=) single nucleotide variant LIFR-related disorder [RCV003907581]|Stuve-Wiedemann syndrome [RCV000294789]|Stüve-Wiedemann syndrome 1 [RCV002500483]|not provided [RCV000897287]|not specified [RCV000176060] Chr5:38481601 [GRCh38]
Chr5:38481703 [GRCh37]
Chr5:5p13.1		 benign|likely benign|uncertain significance
NM_001127671.2(LIFR):c.2302A>G (p.Arg768Gly) single nucleotide variant Connective tissue disorder [RCV002277348]|Stuve-Wiedemann syndrome [RCV000313983]|Stüve-Wiedemann syndrome 1 [RCV003761801]|not provided [RCV000175034] Chr5:38489111 [GRCh38]
Chr5:38489213 [GRCh37]
Chr5:5p13.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh38/hg38 5p15.33-11(chr5:49978-46114984)x3 copy number gain See cases [RCV000135453] Chr5:49978..46114984 [GRCh38]
Chr5:50093..46115086 [GRCh37]
Chr5:103093..46150843 [NCBI36]
Chr5:5p15.33-11		 pathogenic
GRCh38/hg38 5p13.2-q12.1(chr5:35201559-61903141)x3 copy number gain See cases [RCV000137302] Chr5:35201559..61903141 [GRCh38]
Chr5:35201661..61198968 [GRCh37]
Chr5:35237418..61234725 [NCBI36]
Chr5:5p13.2-q12.1		 pathogenic
GRCh38/hg38 5p15.33-q13.3(chr5:22149-74412725)x3 copy number gain See cases [RCV000138780] Chr5:22149..74412725 [GRCh38]
Chr5:22149..73708550 [GRCh37]
Chr5:75149..73744306 [NCBI36]
Chr5:5p15.33-q13.3		 pathogenic
GRCh38/hg38 5p13.1(chr5:38542122-38760928)x3 copy number gain See cases [RCV000138979] Chr5:38542122..38760928 [GRCh38]
Chr5:38542224..38761030 [GRCh37]
Chr5:38577981..38796787 [NCBI36]
Chr5:5p13.1		 likely benign
GRCh38/hg38 5p13.1(chr5:38400157-38593979)x3 copy number gain See cases [RCV000140372] Chr5:38400157..38593979 [GRCh38]
Chr5:38400259..38594081 [GRCh37]
Chr5:38436016..38629838 [NCBI36]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.2074C>T (p.Arg692Ter) single nucleotide variant Stuve-Wiedemann syndrome [RCV000169665]|not provided [RCV001051726] Chr5:38490283 [GRCh38]
Chr5:38490385 [GRCh37]
Chr5:5p13.1		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_001127671.2(LIFR):c.*5125C>T single nucleotide variant Stuve-Wiedemann syndrome [RCV000260408] Chr5:38476470 [GRCh38]
Chr5:38476572 [GRCh37]
Chr5:5p13.1		 likely benign|uncertain significance
NM_002310.6(LIFR):c.-129T>G single nucleotide variant Stuve-Wiedemann syndrome [RCV000261179]|not provided [RCV004695869] Chr5:38595370 [GRCh38]
Chr5:38595472 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.*394C>A single nucleotide variant Stuve-Wiedemann syndrome [RCV000259791] Chr5:38481201 [GRCh38]
Chr5:38481303 [GRCh37]
Chr5:5p13.1		 benign|uncertain significance
NM_001127671.2(LIFR):c.2170C>G (p.Pro724Ala) single nucleotide variant Stuve-Wiedemann syndrome [RCV000201229] Chr5:38489243 [GRCh38]
Chr5:38489345 [GRCh37]
Chr5:5p13.1		 pathogenic
GRCh37/hg19 5p15.2-12(chr5:13461664-46098927)x3 copy number gain See cases [RCV000239779] Chr5:13461664..46098927 [GRCh37]
Chr5:5p15.2-12		 pathogenic
NM_001127671.2(LIFR):c.2447A>G (p.Asp816Gly) single nucleotide variant Connective tissue disorder [RCV002279514]|LIFR-related disorder [RCV003975300]|Stuve-Wiedemann syndrome [RCV000999901]|Stüve-Wiedemann syndrome 1 [RCV003762868]|not provided [RCV000756306] Chr5:38485869 [GRCh38]
Chr5:38485971 [GRCh37]
Chr5:5p13.1		 benign|likely benign
NM_001127671.2(LIFR):c.3221A>G (p.Asp1074Gly) single nucleotide variant Inborn genetic diseases [RCV002533786]|Stuve-Wiedemann syndrome [RCV001151740]|not provided [RCV000756307] Chr5:38481668 [GRCh38]
Chr5:38481770 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.1749C>G (p.Ser583=) single nucleotide variant not provided [RCV001494957] Chr5:38496518 [GRCh38]
Chr5:38496620 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.1937C>A (p.Thr646Asn) single nucleotide variant Congenital anomaly of kidney and urinary tract [RCV000491876]|Connective tissue disorder [RCV002277581]|LIFR-related disorder [RCV003919908]|Stuve-Wiedemann syndrome [RCV000999980]|Stüve-Wiedemann syndrome 1 [RCV003761833]|not provided [RCV000224818]|not specified [RCV000505869] Chr5:38493734 [GRCh38]
Chr5:38493836 [GRCh37]
Chr5:5p13.1		 likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001127671.2(LIFR):c.420G>A (p.Glu140=) single nucleotide variant not provided [RCV000757431] Chr5:38523560 [GRCh38]
Chr5:38523662 [GRCh37]
Chr5:5p13.1		 benign|likely benign
NM_001127671.2(LIFR):c.1991C>T (p.Ser664Leu) single nucleotide variant Connective tissue disorder [RCV002279519]|Stüve-Wiedemann syndrome 1 [RCV003103837]|not provided [RCV000757432] Chr5:38493680 [GRCh38]
Chr5:38493782 [GRCh37]
Chr5:5p13.1		 benign|likely benign
NM_001127671.2(LIFR):c.3087A>G (p.Arg1029=) single nucleotide variant Stuve-Wiedemann syndrome [RCV001000059]|not provided [RCV000757433] Chr5:38481802 [GRCh38]
Chr5:38481904 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.143-37GT[11] microsatellite Stuve-Wiedemann syndrome [RCV000273147]|Stüve-Wiedemann syndrome 1 [RCV003761933]|not provided [RCV000908352]|not specified [RCV000727652] Chr5:38528850..38528855 [GRCh38]
Chr5:38528952..38528957 [GRCh37]
Chr5:5p13.1		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001127671.2(LIFR):c.1732G>A (p.Asp578Asn) single nucleotide variant Stuve-Wiedemann syndrome [RCV000286125]|not provided [RCV001522936] Chr5:38496535 [GRCh38]
Chr5:38496637 [GRCh37]
Chr5:5p13.1		 benign
NM_001127671.2(LIFR):c.*6316C>T single nucleotide variant Stuve-Wiedemann syndrome [RCV000281875] Chr5:38475279 [GRCh38]
Chr5:38475381 [GRCh37]
Chr5:5p13.1		 benign|likely benign
NM_001127671.2(LIFR):c.*2712C>T single nucleotide variant Stuve-Wiedemann syndrome [RCV000281942] Chr5:38478883 [GRCh38]
Chr5:38478985 [GRCh37]
Chr5:5p13.1		 likely benign|uncertain significance
NM_001127671.2(LIFR):c.*3163T>C single nucleotide variant Stuve-Wiedemann syndrome [RCV000282812] Chr5:38478432 [GRCh38]
Chr5:38478534 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.*3375A>G single nucleotide variant Stuve-Wiedemann syndrome [RCV000270339] Chr5:38478220 [GRCh38]
Chr5:38478322 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.2066-14T>C single nucleotide variant Stuve-Wiedemann syndrome [RCV000269499] Chr5:38490305 [GRCh38]
Chr5:38490407 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.*362G>A single nucleotide variant Stuve-Wiedemann syndrome [RCV000275248] Chr5:38481233 [GRCh38]
Chr5:38481335 [GRCh37]
Chr5:5p13.1		 benign
NM_001127671.2(LIFR):c.*3834C>G single nucleotide variant Stuve-Wiedemann syndrome [RCV000271506] Chr5:38477761 [GRCh38]
Chr5:38477863 [GRCh37]
Chr5:5p13.1		 benign
NM_001127671.2(LIFR):c.*1540A>G single nucleotide variant Stuve-Wiedemann syndrome [RCV000266072] Chr5:38480055 [GRCh38]
Chr5:38480157 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.*1860T>G single nucleotide variant Stuve-Wiedemann syndrome [RCV000272795] Chr5:38479735 [GRCh38]
Chr5:38479837 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.*4024G>A single nucleotide variant Stuve-Wiedemann syndrome [RCV000277245] Chr5:38477571 [GRCh38]
Chr5:38477673 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.2309C>T (p.Thr770Ile) single nucleotide variant Inborn genetic diseases [RCV003258791]|Stuve-Wiedemann syndrome [RCV000277651] Chr5:38489104 [GRCh38]
Chr5:38489206 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.2410A>G (p.Lys804Glu) single nucleotide variant Stuve-Wiedemann syndrome [RCV000299502]|Stüve-Wiedemann syndrome 1 [RCV003761932]|not provided [RCV002523522] Chr5:38485906 [GRCh38]
Chr5:38486008 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.263G>A (p.Arg88His) single nucleotide variant Stuve-Wiedemann syndrome [RCV000351735]|not provided [RCV002523523] Chr5:38527289 [GRCh38]
Chr5:38527391 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.*2464C>G single nucleotide variant Stuve-Wiedemann syndrome [RCV000352539] Chr5:38479131 [GRCh38]
Chr5:38479233 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.*6564C>T single nucleotide variant Stuve-Wiedemann syndrome [RCV000373967] Chr5:38475031 [GRCh38]
Chr5:38475133 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.*4801A>G single nucleotide variant Stuve-Wiedemann syndrome [RCV000344462] Chr5:38476794 [GRCh38]
Chr5:38476896 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.2498-7G>A single nucleotide variant Connective tissue disorder [RCV002278610]|Stuve-Wiedemann syndrome [RCV000353300]|Stüve-Wiedemann syndrome 1 [RCV003103992]|not provided [RCV000974200]|not specified [RCV000728402] Chr5:38484875 [GRCh38]
Chr5:38484977 [GRCh37]
Chr5:5p13.1		 benign|likely benign|uncertain significance
NM_001127671.2(LIFR):c.*5169T>A single nucleotide variant Stuve-Wiedemann syndrome [RCV000353969] Chr5:38476426 [GRCh38]
Chr5:38476528 [GRCh37]
Chr5:5p13.1		 benign
NM_001127671.2(LIFR):c.2934G>A (p.Gln978=) single nucleotide variant Connective tissue disorder [RCV002278608]|Stuve-Wiedemann syndrome [RCV000346451]|Stüve-Wiedemann syndrome 1 [RCV003761931]|not provided [RCV000756308]|not specified [RCV003488567] Chr5:38481955 [GRCh38]
Chr5:38482057 [GRCh37]
Chr5:5p13.1		 likely benign|uncertain significance
NM_002310.6(LIFR):c.-139G>A single nucleotide variant Stuve-Wiedemann syndrome [RCV000316474] Chr5:38595380 [GRCh38]
Chr5:38595482 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.*546A>C single nucleotide variant Stuve-Wiedemann syndrome [RCV000354859] Chr5:38481049 [GRCh38]
Chr5:38481151 [GRCh37]
Chr5:5p13.1		 benign
NM_001127671.2(LIFR):c.*1554C>G single nucleotide variant Stuve-Wiedemann syndrome [RCV000376971] Chr5:38480041 [GRCh38]
Chr5:38480143 [GRCh37]
Chr5:5p13.1		 benign|likely benign
NM_001127671.2(LIFR):c.*984T>C single nucleotide variant Stuve-Wiedemann syndrome [RCV000303635] Chr5:38480611 [GRCh38]
Chr5:38480713 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.1304C>T (p.Thr435Ile) single nucleotide variant Stuve-Wiedemann syndrome [RCV000372341] Chr5:38504109 [GRCh38]
Chr5:38504211 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.*6190C>T single nucleotide variant Stuve-Wiedemann syndrome [RCV000317607] Chr5:38475405 [GRCh38]
Chr5:38475507 [GRCh37]
Chr5:5p13.1		 benign
NM_001127671.2(LIFR):c.1338A>G (p.Ser446=) single nucleotide variant Stuve-Wiedemann syndrome [RCV000336317]|not provided [RCV000901814] Chr5:38504075 [GRCh38]
Chr5:38504177 [GRCh37]
Chr5:5p13.1		 likely benign|uncertain significance
NM_002310.6(LIFR):c.-118G>A single nucleotide variant Stuve-Wiedemann syndrome [RCV000379086] Chr5:38595359 [GRCh38]
Chr5:38595461 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.*2910G>A single nucleotide variant Stuve-Wiedemann syndrome [RCV000373893] Chr5:38478685 [GRCh38]
Chr5:38478787 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.*4405G>C single nucleotide variant Stuve-Wiedemann syndrome [RCV000337210] Chr5:38477190 [GRCh38]
Chr5:38477292 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.*3302T>C single nucleotide variant Stuve-Wiedemann syndrome [RCV000379539]|not provided [RCV004695867] Chr5:38478293 [GRCh38]
Chr5:38478395 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.*1470T>G single nucleotide variant Stuve-Wiedemann syndrome [RCV000376016] Chr5:38480125 [GRCh38]
Chr5:38480125..38480126 [GRCh38]
Chr5:38480227 [GRCh37]
Chr5:38480227..38480228 [GRCh37]
Chr5:5p13.1		 benign
NM_001127671.2(LIFR):c.*4414G>A single nucleotide variant Stuve-Wiedemann syndrome [RCV000303355] Chr5:38477181 [GRCh38]
Chr5:38477283 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.*1484A>G single nucleotide variant Stuve-Wiedemann syndrome [RCV000319020] Chr5:38480111 [GRCh38]
Chr5:38480213 [GRCh37]
Chr5:5p13.1		 benign
NM_001127671.2(LIFR):c.*393G>T single nucleotide variant Stuve-Wiedemann syndrome [RCV000319707] Chr5:38481202 [GRCh38]
Chr5:38481304 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.*3639_*3640del deletion Stuve-Wiedemann syndrome [RCV000381141] Chr5:38477955..38477956 [GRCh38]
Chr5:38478057..38478058 [GRCh37]
Chr5:5p13.1		 benign
NM_001127671.2(LIFR):c.3279C>T (p.Asn1093=) single nucleotide variant Stuve-Wiedemann syndrome [RCV000381207]|not provided [RCV001425334] Chr5:38481610 [GRCh38]
Chr5:38481712 [GRCh37]
Chr5:5p13.1		 likely benign|uncertain significance
NM_001127671.2(LIFR):c.2480T>C (p.Val827Ala) single nucleotide variant Stuve-Wiedemann syndrome [RCV000403821] Chr5:38485836 [GRCh38]
Chr5:38485938 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.*1859A>C single nucleotide variant Stuve-Wiedemann syndrome [RCV000306899] Chr5:38479736 [GRCh38]
Chr5:38479838 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.*1005A>G single nucleotide variant Stuve-Wiedemann syndrome [RCV000288420] Chr5:38480590 [GRCh38]
Chr5:38480692 [GRCh37]
Chr5:5p13.1		 benign|likely benign
NM_001127671.2(LIFR):c.*2981TATTT[1] microsatellite Stuve-Wiedemann syndrome [RCV000340211] Chr5:38478605..38478609 [GRCh38]
Chr5:38478707..38478711 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.*4854A>G single nucleotide variant Stuve-Wiedemann syndrome [RCV000383181] Chr5:38476741 [GRCh38]
Chr5:38476843 [GRCh37]
Chr5:5p13.1		 benign|likely benign
NM_001127671.2(LIFR):c.*5634T>C single nucleotide variant Stuve-Wiedemann syndrome [RCV000405445] Chr5:38475961 [GRCh38]
Chr5:38476063 [GRCh37]
Chr5:5p13.1		 benign|uncertain significance
NM_001127671.2(LIFR):c.1776C>G (p.His592Gln) single nucleotide variant Stuve-Wiedemann syndrome [RCV000320976]|not provided [RCV003114509] Chr5:38496491 [GRCh38]
Chr5:38496593 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.1915A>T (p.Met639Leu) single nucleotide variant LIFR-related disorder [RCV003932452]|Stuve-Wiedemann syndrome [RCV000383609]|not provided [RCV000970444] Chr5:38493756 [GRCh38]
Chr5:38493858 [GRCh37]
Chr5:5p13.1		 benign|likely benign|uncertain significance
NM_001127671.2(LIFR):c.1756G>T (p.Glu586Ter) single nucleotide variant Stuve-Wiedemann syndrome [RCV000380495]|not provided [RCV001850870] Chr5:38496511 [GRCh38]
Chr5:38496613 [GRCh37]
Chr5:5p13.1		 pathogenic|uncertain significance
NM_001127671.2(LIFR):c.*4804C>T single nucleotide variant Stuve-Wiedemann syndrome [RCV000291888] Chr5:38476791 [GRCh38]
Chr5:38476893 [GRCh37]
Chr5:5p13.1		 benign|likely benign
NM_001127671.2(LIFR):c.*3302T>G single nucleotide variant Stuve-Wiedemann syndrome [RCV000322640] Chr5:38478293 [GRCh38]
Chr5:38478395 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.*4428T>C single nucleotide variant Stuve-Wiedemann syndrome [RCV000343126] Chr5:38477167 [GRCh38]
Chr5:38477269 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.*3851T>A single nucleotide variant Stuve-Wiedemann syndrome [RCV000311258] Chr5:38477744 [GRCh38]
Chr5:38477846 [GRCh37]
Chr5:5p13.1		 likely benign|uncertain significance
NM_002310.6(LIFR):c.-90T>C single nucleotide variant Stuve-Wiedemann syndrome [RCV000324586] Chr5:38595331 [GRCh38]
Chr5:38595433 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.*1610T>G single nucleotide variant Stuve-Wiedemann syndrome [RCV000324781] Chr5:38479985 [GRCh38]
Chr5:38480087 [GRCh37]
Chr5:5p13.1		 benign|likely benign
NM_001127671.2(LIFR):c.*1870G>A single nucleotide variant Stuve-Wiedemann syndrome [RCV000365038] Chr5:38479725 [GRCh38]
Chr5:38479827 [GRCh37]
Chr5:5p13.1		 benign
NM_001127671.2(LIFR):c.346C>T (p.His116Tyr) single nucleotide variant Connective tissue disorder [RCV002278611]|Stuve-Wiedemann syndrome [RCV000312041]|not provided [RCV001509843] Chr5:38527206 [GRCh38]
Chr5:38527206..38527207 [GRCh38]
Chr5:38527308 [GRCh37]
Chr5:38527308..38527309 [GRCh37]
Chr5:5p13.1		 benign|likely benign
NM_001127671.2(LIFR):c.*4618T>C single nucleotide variant Stuve-Wiedemann syndrome [RCV000382682] Chr5:38476977 [GRCh38]
Chr5:38477079 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.*5670A>G single nucleotide variant Stuve-Wiedemann syndrome [RCV000308441] Chr5:38475925 [GRCh38]
Chr5:38476027 [GRCh37]
Chr5:5p13.1		 benign
NM_001127671.2(LIFR):c.143-37GT[13] microsatellite Stuve-Wiedemann syndrome [RCV000308475]|Stüve-Wiedemann syndrome 1 [RCV002227155]|not provided [RCV001519778] Chr5:38528850..38528851 [GRCh38]
Chr5:38528952..38528953 [GRCh37]
Chr5:5p13.1		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001127671.2(LIFR):c.-19-10C>T single nucleotide variant Stuve-Wiedemann syndrome [RCV000359517] Chr5:38530676 [GRCh38]
Chr5:38530778 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.*5356A>G single nucleotide variant Stuve-Wiedemann syndrome [RCV000359772] Chr5:38476239 [GRCh38]
Chr5:38476341 [GRCh37]
Chr5:5p13.1		 benign|likely benign
NM_001127671.2(LIFR):c.16G>A (p.Val6Ile) single nucleotide variant Inborn genetic diseases [RCV003362766]|Stuve-Wiedemann syndrome [RCV000309560] Chr5:38530632 [GRCh38]
Chr5:38530734 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.3288C>A (p.Asn1096Lys) single nucleotide variant Congenital anomaly of kidney and urinary tract [RCV000490985]|LIFR-related disorder [RCV003902371]|Stuve-Wiedemann syndrome [RCV000326373]|Stüve-Wiedemann syndrome 1 [RCV003103991]|not provided [RCV000891051]|not specified [RCV003155170] Chr5:38481601 [GRCh38]
Chr5:38481703 [GRCh37]
Chr5:5p13.1		 likely pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001127671.2(LIFR):c.*262A>G single nucleotide variant Stuve-Wiedemann syndrome [RCV000389197] Chr5:38481333 [GRCh38]
Chr5:38481435 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.*5225C>T single nucleotide variant Stuve-Wiedemann syndrome [RCV000262730] Chr5:38476370 [GRCh38]
Chr5:38476472 [GRCh37]
Chr5:5p13.1		 benign|likely benign
NM_001127671.2(LIFR):c.*2476G>T single nucleotide variant Stuve-Wiedemann syndrome [RCV000314062] Chr5:38479119 [GRCh38]
Chr5:38479221 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.*5793C>G single nucleotide variant Stuve-Wiedemann syndrome [RCV000347770] Chr5:38475802 [GRCh38]
Chr5:38475904 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.2353G>A (p.Val785Ile) single nucleotide variant Stuve-Wiedemann syndrome [RCV000368247]|not provided [RCV001516990] Chr5:38485963 [GRCh38]
Chr5:38486065 [GRCh37]
Chr5:5p13.1		 benign
NM_001127671.2(LIFR):c.*6140C>G single nucleotide variant Stuve-Wiedemann syndrome [RCV000388435] Chr5:38475455 [GRCh38]
Chr5:38475557 [GRCh37]
Chr5:5p13.1		 benign|uncertain significance
NM_001127671.2(LIFR):c.*1459T>G single nucleotide variant Stuve-Wiedemann syndrome [RCV000388846] Chr5:38480136 [GRCh38]
Chr5:38480238 [GRCh37]
Chr5:5p13.1		 benign
NM_001127671.2(LIFR):c.1972G>A (p.Val658Ile) single nucleotide variant Stuve-Wiedemann syndrome [RCV000329013] Chr5:38493699 [GRCh38]
Chr5:38493801 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.*3748T>C single nucleotide variant Stuve-Wiedemann syndrome [RCV000328984]|not provided [RCV003430912] Chr5:38477847 [GRCh38]
Chr5:38477949 [GRCh37]
Chr5:5p13.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001127671.2(LIFR):c.*988G>A single nucleotide variant Stuve-Wiedemann syndrome [RCV000348026] Chr5:38480607 [GRCh38]
Chr5:38480709 [GRCh37]
Chr5:5p13.1		 benign
NM_001127671.2(LIFR):c.*6041_*6042insTTA insertion Stuve-Wiedemann syndrome [RCV000349015] Chr5:38475553..38475554 [GRCh38]
Chr5:38475655..38475656 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.*4056G>T single nucleotide variant Stuve-Wiedemann syndrome [RCV000369553] Chr5:38477539 [GRCh38]
Chr5:38477641 [GRCh37]
Chr5:5p13.1		 benign
NM_001127671.2(LIFR):c.247A>G (p.Ile83Val) single nucleotide variant Connective tissue disorder [RCV002278612]|Inborn genetic diseases [RCV002523524]|Stuve-Wiedemann syndrome [RCV000392680]|not provided [RCV001764318] Chr5:38528736 [GRCh38]
Chr5:38528838 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.*2567G>A single nucleotide variant Stuve-Wiedemann syndrome [RCV000393614] Chr5:38479028 [GRCh38]
Chr5:38479130 [GRCh37]
Chr5:5p13.1		 likely benign|uncertain significance
NM_001127671.2(LIFR):c.*4243A>G single nucleotide variant Stuve-Wiedemann syndrome [RCV000297554] Chr5:38477352 [GRCh38]
Chr5:38477454 [GRCh37]
Chr5:5p13.1		 benign|likely benign
NM_001127671.2(LIFR):c.143-37GT[12] microsatellite Stuve-Wiedemann syndrome [RCV000363123]|not provided [RCV001519777]|not specified [RCV001579419] Chr5:38528850..38528853 [GRCh38]
Chr5:38528952..38528955 [GRCh37]
Chr5:5p13.1		 benign|uncertain significance
NM_001127671.2(LIFR):c.*6100G>A single nucleotide variant Stuve-Wiedemann syndrome [RCV000296355] Chr5:38475495 [GRCh38]
Chr5:38475597 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.*324G>A single nucleotide variant Stuve-Wiedemann syndrome [RCV000330021]|not provided [RCV001549380] Chr5:38481271 [GRCh38]
Chr5:38481373 [GRCh37]
Chr5:5p13.1		 benign|likely benign
NM_001127671.2(LIFR):c.*1198C>T single nucleotide variant Stuve-Wiedemann syndrome [RCV000349477] Chr5:38480397 [GRCh38]
Chr5:38480499 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.2578C>T (p.Arg860Trp) single nucleotide variant Connective tissue disorder [RCV002278609]|LIFR-related disorder [RCV003932451]|Stuve-Wiedemann syndrome [RCV000298462]|not provided [RCV000900867] Chr5:38484788 [GRCh38]
Chr5:38484890 [GRCh37]
Chr5:5p13.1		 benign|likely benign
NM_001127671.2(LIFR):c.*2042A>G single nucleotide variant Stuve-Wiedemann syndrome [RCV000312893] Chr5:38479553 [GRCh38]
Chr5:38479655 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.2766T>C (p.Asp922=) single nucleotide variant Stuve-Wiedemann syndrome [RCV000282725]|not provided [RCV000904351] Chr5:38482123 [GRCh38]
Chr5:38482225 [GRCh37]
Chr5:5p13.1		 benign|likely benign|uncertain significance
NM_001127671.2(LIFR):c.819T>C (p.Ser273=) single nucleotide variant Stuve-Wiedemann syndrome [RCV000392677]|not provided [RCV001466829] Chr5:38510636 [GRCh38]
Chr5:38510738 [GRCh37]
Chr5:5p13.1		 likely benign|uncertain significance
NM_001127671.2(LIFR):c.*1051C>T single nucleotide variant Stuve-Wiedemann syndrome [RCV000393131] Chr5:38480544 [GRCh38]
Chr5:38480646 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.254del (p.Asn85fs) deletion Stüve-Wiedemann syndrome 1 [RCV002222464]|not provided [RCV000295087] Chr5:38528729 [GRCh38]
Chr5:38528831 [GRCh37]
Chr5:5p13.1		 pathogenic|likely pathogenic
NM_001127671.2(LIFR):c.992-8dup duplication Stuve-Wiedemann syndrome [RCV000282644]|not provided [RCV001510984] Chr5:38506639..38506640 [GRCh38]
Chr5:38506741..38506742 [GRCh37]
Chr5:5p13.1		 benign|uncertain significance
NM_001127671.2(LIFR):c.*586A>T single nucleotide variant Stuve-Wiedemann syndrome [RCV000304756] Chr5:38481009 [GRCh38]
Chr5:38481111 [GRCh37]
Chr5:5p13.1		 benign
NM_001127671.2(LIFR):c.*1464dup duplication Stuve-Wiedemann syndrome [RCV000317843]|not provided [RCV004695868] Chr5:38480130..38480131 [GRCh38]
Chr5:38480232..38480233 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.*5072dup duplication Stuve-Wiedemann syndrome [RCV000331944] Chr5:38476522..38476523 [GRCh38]
Chr5:38476624..38476625 [GRCh37]
Chr5:5p13.1		 benign
NM_001127671.2(LIFR):c.653dup (p.Glu219fs) duplication Stuve-Wiedemann syndrome [RCV000348821]|Stüve-Wiedemann syndrome 1 [RCV003326396]|not provided [RCV000790750] Chr5:38511872..38511873 [GRCh38]
Chr5:38511974..38511975 [GRCh37]
Chr5:5p13.1		 pathogenic
NM_001127671.2(LIFR):c.1357T>C (p.Trp453Arg) single nucleotide variant not provided [RCV000391166] Chr5:38504056 [GRCh38]
Chr5:38504158 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_002310.6(LIFR):c.-28G>A single nucleotide variant Stuve-Wiedemann syndrome [RCV000264901] Chr5:38595269 [GRCh38]
Chr5:38595371 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.*2138dup duplication Stuve-Wiedemann syndrome [RCV000406198] Chr5:38479456..38479457 [GRCh38]
Chr5:38479558..38479559 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.2280G>A (p.Leu760=) single nucleotide variant Stuve-Wiedemann syndrome [RCV001828284]|not provided [RCV000393817] Chr5:38489133 [GRCh38]
Chr5:38489235 [GRCh37]
Chr5:5p13.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001127671.2(LIFR):c.954C>T (p.Thr318=) single nucleotide variant Connective tissue disorder [RCV002278259]|Stuve-Wiedemann syndrome [RCV001155707]|not provided [RCV000882279]|not specified [RCV000260153] Chr5:38510501 [GRCh38]
Chr5:38510603 [GRCh37]
Chr5:5p13.1		 benign|likely benign
NM_001127671.2(LIFR):c.*1854C>T single nucleotide variant Stuve-Wiedemann syndrome [RCV000267290] Chr5:38479741 [GRCh38]
Chr5:38479843 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.*1468T>G single nucleotide variant Stuve-Wiedemann syndrome [RCV000279180] Chr5:38480127 [GRCh38]
Chr5:38480229 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.364A>G (p.Thr122Ala) single nucleotide variant Stuve-Wiedemann syndrome [RCV000764608]|not provided [RCV000334528] Chr5:38527188 [GRCh38]
Chr5:38527290 [GRCh37]
Chr5:5p13.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_001127671.2(LIFR):c.1292-80T>A single nucleotide variant Stuve-Wiedemann syndrome [RCV001543894]|not provided [RCV001638145] Chr5:38504201 [GRCh38]
Chr5:38504303 [GRCh37]
Chr5:5p13.1		 benign
NM_001127671.2(LIFR):c.-19-295_-19-291del deletion not provided [RCV001547810] Chr5:38530957..38530961 [GRCh38]
Chr5:38531059..38531063 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.3089C>T (p.Pro1030Leu) single nucleotide variant Hereditary breast ovarian cancer syndrome [RCV001374567]|not provided [RCV002537619] Chr5:38481800 [GRCh38]
Chr5:38481902 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.3082T>A (p.Tyr1028Asn) single nucleotide variant Stuve-Wiedemann syndrome [RCV000291427] Chr5:38481807 [GRCh38]
Chr5:38481909 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.*5542G>A single nucleotide variant Stuve-Wiedemann syndrome [RCV000302429] Chr5:38476053 [GRCh38]
Chr5:38476155 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.*4926_*4927del deletion Stuve-Wiedemann syndrome [RCV000330939] Chr5:38476668..38476669 [GRCh38]
Chr5:38476770..38476771 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.*1302T>G single nucleotide variant Stuve-Wiedemann syndrome [RCV000292183] Chr5:38480293 [GRCh38]
Chr5:38480395 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.*4927del deletion Stuve-Wiedemann syndrome [RCV000292255] Chr5:38476668 [GRCh38]
Chr5:38476770 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.2262C>A (p.Gly754=) single nucleotide variant Stuve-Wiedemann syndrome [RCV000364103]|not provided [RCV001444548] Chr5:38489151 [GRCh38]
Chr5:38489253 [GRCh37]
Chr5:5p13.1		 likely benign|uncertain significance
NM_001127671.2(LIFR):c.*1855A>T single nucleotide variant Stuve-Wiedemann syndrome [RCV000363968] Chr5:38479740 [GRCh38]
Chr5:38479842 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.*4264T>G single nucleotide variant Stuve-Wiedemann syndrome [RCV000403888] Chr5:38477331 [GRCh38]
Chr5:38477433 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.*2697A>G single nucleotide variant Stuve-Wiedemann syndrome [RCV000334611] Chr5:38478898 [GRCh38]
Chr5:38479000 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.*5768A>C single nucleotide variant Stuve-Wiedemann syndrome [RCV000404621] Chr5:38475827 [GRCh38]
Chr5:38475929 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.*648C>G single nucleotide variant Stuve-Wiedemann syndrome [RCV000405014] Chr5:38480947 [GRCh38]
Chr5:38481049 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.*5184G>A single nucleotide variant Stuve-Wiedemann syndrome [RCV000320080] Chr5:38476411 [GRCh38]
Chr5:38476513 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.*3850T>G single nucleotide variant Stuve-Wiedemann syndrome [RCV000368223] Chr5:38477745 [GRCh38]
Chr5:38477847 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.*6640dup duplication Stuve-Wiedemann syndrome [RCV000355332] Chr5:38474954..38474955 [GRCh38]
Chr5:38475056..38475057 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.*5017A>G single nucleotide variant Stuve-Wiedemann syndrome [RCV000388923] Chr5:38476578 [GRCh38]
Chr5:38476680 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.*5986T>C single nucleotide variant Stuve-Wiedemann syndrome [RCV000407266] Chr5:38475609 [GRCh38]
Chr5:38475711 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.935C>A (p.Thr312Lys) single nucleotide variant Stuve-Wiedemann syndrome [RCV000337643] Chr5:38510520 [GRCh38]
Chr5:38510622 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.*4438A>G single nucleotide variant Stuve-Wiedemann syndrome [RCV000285951] Chr5:38477157 [GRCh38]
Chr5:38477259 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.2852C>T (p.Pro951Leu) single nucleotide variant Stuve-Wiedemann syndrome [RCV000390911] Chr5:38482037 [GRCh38]
Chr5:38482139 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.2728G>T (p.Val910Phe) single nucleotide variant Stuve-Wiedemann syndrome [RCV000390905] Chr5:38482161 [GRCh38]
Chr5:38482263 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.*4417A>G single nucleotide variant Stuve-Wiedemann syndrome [RCV000390915] Chr5:38477178 [GRCh38]
Chr5:38477280 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.*368A>C single nucleotide variant Stuve-Wiedemann syndrome [RCV000355869] Chr5:38481227 [GRCh38]
Chr5:38481329 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.*987C>T single nucleotide variant Stuve-Wiedemann syndrome [RCV000393114] Chr5:38480608 [GRCh38]
Chr5:38480710 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.2750T>A (p.Phe917Tyr) single nucleotide variant Stuve-Wiedemann syndrome [RCV000342428] Chr5:38482139 [GRCh38]
Chr5:38482241 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.*966T>G single nucleotide variant Stuve-Wiedemann syndrome [RCV000358317] Chr5:38480629 [GRCh38]
Chr5:38480731 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.*5796A>C single nucleotide variant Stuve-Wiedemann syndrome [RCV000290399] Chr5:38475799 [GRCh38]
Chr5:38475901 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.*5667T>C single nucleotide variant Stuve-Wiedemann syndrome [RCV000360893] Chr5:38475928 [GRCh38]
Chr5:38476030 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.1485T>C (p.Ala495=) single nucleotide variant not provided [RCV000593723] Chr5:38502752 [GRCh38]
Chr5:38502854 [GRCh37]
Chr5:5p13.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_001127671.2(LIFR):c.1790G>A (p.Arg597Gln) single nucleotide variant Stuve-Wiedemann syndrome [RCV001151852] Chr5:38496477 [GRCh38]
Chr5:38496579 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.1560C>T (p.Ser520=) single nucleotide variant Stuve-Wiedemann syndrome [RCV001151854]|not provided [RCV002070841] Chr5:38502677 [GRCh38]
Chr5:38502779 [GRCh37]
Chr5:5p13.1		 likely benign|uncertain significance
NM_001127671.2(LIFR):c.1439G>A (p.Arg480Gln) single nucleotide variant Stuve-Wiedemann syndrome [RCV001151856]|not provided [RCV001882471] Chr5:38502798 [GRCh38]
Chr5:38502900 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.2937G>A (p.Ser979=) single nucleotide variant LIFR-related disorder [RCV003918191]|not provided [RCV000728722] Chr5:38481952 [GRCh38]
Chr5:38482054 [GRCh37]
Chr5:5p13.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 5p13.2-13.1(chr5:37298599-39311411)x3 copy number gain See cases [RCV000447631] Chr5:37298599..39311411 [GRCh37]
Chr5:5p13.2-13.1		 uncertain significance
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789) copy number gain See cases [RCV000510723] Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3		 pathogenic
NM_001127671.2(LIFR):c.1516A>C (p.Thr506Pro) single nucleotide variant not provided [RCV000430503] Chr5:38502721 [GRCh38]
Chr5:38502823 [GRCh37]
Chr5:5p13.1		 uncertain significance
GRCh37/hg19 5p14.2-11(chr5:24281195-46389339)x3 copy number gain See cases [RCV000512120] Chr5:24281195..46389339 [GRCh37]
Chr5:5p14.2-11		 likely pathogenic
GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1 copy number loss See cases [RCV000511978] Chr5:17628741..176575720 [GRCh37]
Chr5:5p15.1-q35.2		 pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3 copy number gain See cases [RCV000512039] Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3		 pathogenic
NM_002310.6(LIFR):c.-20+294A>T single nucleotide variant Stuve-Wiedemann syndrome [RCV000507167] Chr5:38594967 [GRCh38]
Chr5:38595069 [GRCh37]
Chr5:5p13.1		 benign
NM_001127671.2(LIFR):c.1273_1276del (p.Val425fs) deletion Congenital anomaly of kidney and urinary tract [RCV000491563] Chr5:38505920..38505923 [GRCh38]
Chr5:38506022..38506025 [GRCh37]
Chr5:5p13.1		 pathogenic
NM_001127671.2(LIFR):c.1578del (p.Lys526fs) deletion Stuve-Wiedemann syndrome [RCV000604634]|not provided [RCV003736839] Chr5:38502659 [GRCh38]
Chr5:38502761 [GRCh37]
Chr5:5p13.1		 pathogenic|likely pathogenic
NM_001127671.2(LIFR):c.1996C>T (p.Arg666Trp) single nucleotide variant Inborn genetic diseases [RCV003282573] Chr5:38493675 [GRCh38]
Chr5:38493777 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.1886-18C>T single nucleotide variant Stüve-Wiedemann syndrome 1 [RCV003103999]|not provided [RCV000514770] Chr5:38493803 [GRCh38]
Chr5:38493905 [GRCh37]
Chr5:5p13.1		 benign|likely benign
NM_001127671.2(LIFR):c.452C>G (p.Ser151Cys) single nucleotide variant Stüve-Wiedemann syndrome 1 [RCV002476334]|not provided [RCV000595421] Chr5:38523528 [GRCh38]
Chr5:38523630 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.2443A>G (p.Thr815Ala) single nucleotide variant Stuve-Wiedemann syndrome [RCV000680031] Chr5:38485873 [GRCh38]
Chr5:38485975 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.503C>G (p.Ser168Ter) single nucleotide variant Stuve-Wiedemann syndrome [RCV000680032] Chr5:38523477 [GRCh38]
Chr5:38523579 [GRCh37]
Chr5:5p13.1		 pathogenic
GRCh37/hg19 5p14.1-12(chr5:27227243-45685844)x3 copy number gain not provided [RCV000682542] Chr5:27227243..45685844 [GRCh37]
Chr5:5p14.1-12		 pathogenic
GRCh37/hg19 5p13.2-13.1(chr5:38272686-38527528)x3 copy number gain not provided [RCV000682548] Chr5:38272686..38527528 [GRCh37]
Chr5:5p13.2-13.1		 uncertain significance
GRCh37/hg19 5p13.3-12(chr5:31351588-43480111)x3 copy number gain not provided [RCV000744593] Chr5:31351588..43480111 [GRCh37]
Chr5:5p13.3-12		 pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:13648-180905029)x3 copy number gain not provided [RCV000744317] Chr5:13648..180905029 [GRCh37]
Chr5:5p15.33-q35.3		 pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:25328-180693344)x3 copy number gain not provided [RCV000744323] Chr5:25328..180693344 [GRCh37]
Chr5:5p15.33-q35.3		 pathogenic
GRCh37/hg19 5p13.1(chr5:38536315-38556894)x1 copy number loss not provided [RCV000744656] Chr5:38536315..38556894 [GRCh37]
Chr5:5p13.1		 benign
GRCh37/hg19 5p13.1(chr5:38536315-38556970)x1 copy number loss not provided [RCV000744657] Chr5:38536315..38556970 [GRCh37]
Chr5:5p13.1		 benign
GRCh37/hg19 5p13.1(chr5:38556294-38556650)x1 copy number loss not provided [RCV000744658] Chr5:38556294..38556650 [GRCh37]
Chr5:5p13.1		 benign
GRCh37/hg19 5p13.1(chr5:38556294-38556694)x1 copy number loss not provided [RCV000744659] Chr5:38556294..38556694 [GRCh37]
Chr5:5p13.1		 benign
GRCh37/hg19 5p13.1(chr5:38556294-38556706)x1 copy number loss not provided [RCV000744660] Chr5:38556294..38556706 [GRCh37]
Chr5:5p13.1		 benign
GRCh37/hg19 5p13.1(chr5:38556294-38556894)x1 copy number loss not provided [RCV000744661] Chr5:38556294..38556894 [GRCh37]
Chr5:5p13.1		 benign
GRCh37/hg19 5p13.1(chr5:38556294-38556970)x1 copy number loss not provided [RCV000744662] Chr5:38556294..38556970 [GRCh37]
Chr5:5p13.1		 benign
GRCh37/hg19 5p13.1(chr5:38556294-38557021)x1 copy number loss not provided [RCV000744663] Chr5:38556294..38557021 [GRCh37]
Chr5:5p13.1		 benign
GRCh37/hg19 5p13.1(chr5:38556345-38557021)x1 copy number loss not provided [RCV000744664] Chr5:38556345..38557021 [GRCh37]
Chr5:5p13.1		 benign
GRCh37/hg19 5p13.1(chr5:38556594-38556706)x1 copy number loss not provided [RCV000744665] Chr5:38556594..38556706 [GRCh37]
Chr5:5p13.1		 benign
GRCh37/hg19 5p13.1(chr5:38556594-38556894)x1 copy number loss not provided [RCV000744666] Chr5:38556594..38556894 [GRCh37]
Chr5:5p13.1		 benign
NM_001127671.2(LIFR):c.562-88A>G single nucleotide variant not provided [RCV001679895] Chr5:38512052 [GRCh38]
Chr5:38512154 [GRCh37]
Chr5:5p13.1		 benign
NM_001127671.2(LIFR):c.737-56A>T single nucleotide variant not provided [RCV001583402] Chr5:38510774 [GRCh38]
Chr5:38510876 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.2591+17T>C single nucleotide variant Stüve-Wiedemann syndrome 1 [RCV003761409]|not provided [RCV001584974] Chr5:38484758 [GRCh38]
Chr5:38484860 [GRCh37]
Chr5:5p13.1		 benign|likely benign
NM_001127671.2(LIFR):c.1600+148G>A single nucleotide variant not provided [RCV001564556] Chr5:38502489 [GRCh38]
Chr5:38502591 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.2529A>G (p.Pro843=) single nucleotide variant Stuve-Wiedemann syndrome [RCV001825845]|not provided [RCV000917098] Chr5:38484837 [GRCh38]
Chr5:38484939 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.1365A>G (p.Leu455=) single nucleotide variant Stuve-Wiedemann syndrome [RCV001832243]|not provided [RCV000977227] Chr5:38504048 [GRCh38]
Chr5:38504150 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.397+29A>C single nucleotide variant Stuve-Wiedemann syndrome [RCV001543896]|not provided [RCV001676042] Chr5:38527126 [GRCh38]
Chr5:38527228 [GRCh37]
Chr5:5p13.1		 benign
NM_001127671.2(LIFR):c.143-4C>A single nucleotide variant not provided [RCV000939699] Chr5:38528844 [GRCh38]
Chr5:38528946 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.2591+97del deletion not provided [RCV001570267] Chr5:38484678 [GRCh38]
Chr5:38484780 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.1992G>A (p.Ser664=) single nucleotide variant Stuve-Wiedemann syndrome [RCV001271679]|not provided [RCV000929193] Chr5:38493679 [GRCh38]
Chr5:38493781 [GRCh37]
Chr5:5p13.1		 likely benign|uncertain significance
NM_001127671.2(LIFR):c.975C>G (p.Thr325=) single nucleotide variant not provided [RCV000929214] Chr5:38510480 [GRCh38]
Chr5:38510582 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.737-7T>C single nucleotide variant not provided [RCV000982493] Chr5:38510725 [GRCh38]
Chr5:38510827 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.2671-10T>G single nucleotide variant Connective tissue disorder [RCV002279648]|Stuve-Wiedemann syndrome [RCV001152985]|not provided [RCV000928497] Chr5:38482228 [GRCh38]
Chr5:38482330 [GRCh37]
Chr5:5p13.1		 likely benign|uncertain significance
NM_001127671.2(LIFR):c.143-11_143-6dup duplication not provided [RCV000970120] Chr5:38528845..38528846 [GRCh38]
Chr5:38528947..38528948 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.789A>G (p.Val263=) single nucleotide variant Stuve-Wiedemann syndrome [RCV001000619]|not provided [RCV000905762] Chr5:38510666 [GRCh38]
Chr5:38510768 [GRCh37]
Chr5:5p13.1		 benign|likely benign
NM_001127671.2(LIFR):c.143-37GT[7] microsatellite not provided [RCV000983213] Chr5:38528850..38528863 [GRCh38]
Chr5:38528952..38528965 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.670A>G (p.Ile224Val) single nucleotide variant LIFR-related disorder [RCV003908066]|not provided [RCV000756305] Chr5:38511856 [GRCh38]
Chr5:38511958 [GRCh37]
Chr5:5p13.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001127671.2(LIFR):c.553G>A (p.Val185Ile) single nucleotide variant LIFR-related disorder [RCV003960557]|Stuve-Wiedemann syndrome [RCV001286348]|not provided [RCV000944002] Chr5:38523427 [GRCh38]
Chr5:38523529 [GRCh37]
Chr5:5p13.1		 likely benign|uncertain significance
NM_001127671.2(LIFR):c.2498-8C>T single nucleotide variant not provided [RCV000927912] Chr5:38484876 [GRCh38]
Chr5:38484978 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.407del (p.Pro136fs) deletion not provided [RCV001044033] Chr5:38523573 [GRCh38]
Chr5:38523675 [GRCh37]
Chr5:5p13.1		 pathogenic
NC_000005.10:g.(?_38481585)_(38530657_?)del deletion not provided [RCV001032037] Chr5:38481687..38530759 [GRCh37]
Chr5:5p13.1		 pathogenic
Single allele deletion Neurodevelopmental disorder [RCV000787436] Chr5:14685137..149511942 [GRCh37]
Chr5:5p15.2-q32		 uncertain significance
NM_001127671.2(LIFR):c.28C>T (p.Arg10Ter) single nucleotide variant Stuve-Wiedemann syndrome [RCV000778768]|not provided [RCV000823782] Chr5:38530620 [GRCh38]
Chr5:38530722 [GRCh37]
Chr5:5p13.1		 pathogenic|uncertain significance
NM_001127671.2(LIFR):c.2463G>A (p.Pro821=) single nucleotide variant Stuve-Wiedemann syndrome [RCV001276355]|not provided [RCV000907981] Chr5:38485853 [GRCh38]
Chr5:38485955 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.2217G>A (p.Ser739=) single nucleotide variant Stuve-Wiedemann syndrome [RCV001276356]|not provided [RCV000939774] Chr5:38489196 [GRCh38]
Chr5:38489298 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.810T>C (p.Cys270=) single nucleotide variant not provided [RCV000978836] Chr5:38510645 [GRCh38]
Chr5:38510747 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.1935C>T (p.Leu645=) single nucleotide variant not provided [RCV000903183] Chr5:38493736 [GRCh38]
Chr5:38493838 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.2430C>T (p.Val810=) single nucleotide variant not provided [RCV000930884] Chr5:38485886 [GRCh38]
Chr5:38485988 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.1512A>C (p.Leu504=) single nucleotide variant not provided [RCV000983640] Chr5:38502725 [GRCh38]
Chr5:38502827 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.1221T>C (p.Asn407=) single nucleotide variant Stuve-Wiedemann syndrome [RCV001278388]|not provided [RCV000943715] Chr5:38505975 [GRCh38]
Chr5:38506077 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.2010C>T (p.Cys670=) single nucleotide variant Connective tissue disorder [RCV002279642]|not provided [RCV000922853] Chr5:38493661 [GRCh38]
Chr5:38493763 [GRCh37]
Chr5:5p13.1		 likely benign|uncertain significance
NM_001127671.2(LIFR):c.143-11_143-7del deletion not provided [RCV000982058] Chr5:38528847..38528851 [GRCh38]
Chr5:38528949..38528953 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.2799T>C (p.Pro933=) single nucleotide variant not provided [RCV000978655] Chr5:38482090 [GRCh38]
Chr5:38482192 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.2139C>T (p.Arg713=) single nucleotide variant LIFR-related disorder [RCV003925826]|not provided [RCV000938754] Chr5:38490218 [GRCh38]
Chr5:38490320 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.3132T>C (p.Ser1044=) single nucleotide variant Stuve-Wiedemann syndrome [RCV001271677]|not provided [RCV000981187] Chr5:38481757 [GRCh38]
Chr5:38481859 [GRCh37]
Chr5:5p13.1		 likely benign|uncertain significance
NM_001127671.2(LIFR):c.15C>T (p.Tyr5=) single nucleotide variant Stuve-Wiedemann syndrome [RCV001832170]|not provided [RCV000943992] Chr5:38530633 [GRCh38]
Chr5:38530735 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.2445A>G (p.Thr815=) single nucleotide variant Stuve-Wiedemann syndrome [RCV001271678]|not provided [RCV000930241] Chr5:38485871 [GRCh38]
Chr5:38485973 [GRCh37]
Chr5:5p13.1		 likely benign|uncertain significance
NM_001127671.2(LIFR):c.3078G>A (p.Ala1026=) single nucleotide variant Connective tissue disorder [RCV002279650]|not provided [RCV000941581] Chr5:38481811 [GRCh38]
Chr5:38481913 [GRCh37]
Chr5:5p13.1		 likely benign|uncertain significance
NM_001127671.2(LIFR):c.2643A>T (p.Ala881=) single nucleotide variant not provided [RCV000910042] Chr5:38482616 [GRCh38]
Chr5:38482718 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.552C>T (p.Leu184=) single nucleotide variant Stuve-Wiedemann syndrome [RCV001836030]|not provided [RCV000941294] Chr5:38523428 [GRCh38]
Chr5:38523530 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.1965C>T (p.Cys655=) single nucleotide variant Stuve-Wiedemann syndrome [RCV001157299]|not provided [RCV000936684] Chr5:38493706 [GRCh38]
Chr5:38493808 [GRCh37]
Chr5:5p13.1		 likely benign|uncertain significance
NM_001127671.2(LIFR):c.478_479del (p.Arg160fs) deletion Stüve-Wiedemann syndrome 1 [RCV002478890]|not provided [RCV000812875] Chr5:38523501..38523502 [GRCh38]
Chr5:38523603..38523604 [GRCh37]
Chr5:5p13.1		 pathogenic|likely pathogenic
NM_001127671.2(LIFR):c.*2611C>T single nucleotide variant Stuve-Wiedemann syndrome [RCV001151556] Chr5:38478984 [GRCh38]
Chr5:38479086 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.*2585T>A single nucleotide variant Stuve-Wiedemann syndrome [RCV001151557] Chr5:38479010 [GRCh38]
Chr5:38479112 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.*2570G>C single nucleotide variant Stuve-Wiedemann syndrome [RCV001151558] Chr5:38479025 [GRCh38]
Chr5:38479127 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.*6248C>G single nucleotide variant Stuve-Wiedemann syndrome [RCV001151316] Chr5:38475347 [GRCh38]
Chr5:38475449 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.*6226A>G single nucleotide variant Stuve-Wiedemann syndrome [RCV001151317] Chr5:38475369 [GRCh38]
Chr5:38475471 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.1776C>T (p.His592=) single nucleotide variant not provided [RCV000978583] Chr5:38496491 [GRCh38]
Chr5:38496593 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.480G>A (p.Arg160=) single nucleotide variant not provided [RCV000979071] Chr5:38523500 [GRCh38]
Chr5:38523602 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.912_915del (p.Ile304fs) deletion Stuve-Wiedemann syndrome [RCV001276357]|not provided [RCV001008588] Chr5:38510540..38510543 [GRCh38]
Chr5:38510642..38510645 [GRCh37]
Chr5:5p13.1		 pathogenic|likely pathogenic
NM_001127671.2(LIFR):c.274C>T (p.Gln92Ter) single nucleotide variant Stuve-Wiedemann syndrome [RCV001007865] Chr5:38527278 [GRCh38]
Chr5:38527380 [GRCh37]
Chr5:5p13.1		 pathogenic
NM_001127671.2(LIFR):c.2335+1G>A single nucleotide variant not provided [RCV001230974] Chr5:38489077 [GRCh38]
Chr5:38489179 [GRCh37]
Chr5:5p13.1		 likely pathogenic
NM_001127671.2(LIFR):c.143-11_143-10insGTGT insertion Stüve-Wiedemann syndrome [RCV001000376] Chr5:38528850..38528851 [GRCh38]
Chr5:38528952..38528953 [GRCh37]
Chr5:5p13.1		 benign
NM_001127671.2(LIFR):c.397+17_397+20del microsatellite Stüve-Wiedemann syndrome 1 [RCV003762954]|not provided [RCV002068754] Chr5:38527135..38527138 [GRCh38]
Chr5:38527237..38527240 [GRCh37]
Chr5:5p13.1		 benign
NM_001127671.2(LIFR):c.991+80G>T single nucleotide variant Stuve-Wiedemann syndrome [RCV001001502]|not provided [RCV001692341] Chr5:38510384 [GRCh38]
Chr5:38510486 [GRCh37]
Chr5:5p13.1		 benign
NM_001127671.2(LIFR):c.406C>G (p.Pro136Ala) single nucleotide variant Stuve-Wiedemann syndrome [RCV001002011]|Stüve-Wiedemann syndrome 1 [RCV002479193]|not provided [RCV002549168] Chr5:38523574 [GRCh38]
Chr5:38523676 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.623del (p.Asp208fs) deletion not provided [RCV001233625] Chr5:38511903 [GRCh38]
Chr5:38512005 [GRCh37]
Chr5:5p13.1		 pathogenic
NM_001127671.2(LIFR):c.1655dup (p.Leu552fs) duplication not provided [RCV001207050] Chr5:38499528..38499529 [GRCh38]
Chr5:38499630..38499631 [GRCh37]
Chr5:5p13.1		 pathogenic
NM_001127671.2(LIFR):c.23del (p.Cys7_Leu8insTer) deletion Stüve-Wiedemann syndrome 1 [RCV003145375]|not provided [RCV001205520] Chr5:38530625 [GRCh38]
Chr5:38530727 [GRCh37]
Chr5:5p13.1		 pathogenic|likely pathogenic
GRCh37/hg19 5p13.2-11(chr5:34453883-46389339)x3 copy number gain not provided [RCV000848003] Chr5:34453883..46389339 [GRCh37]
Chr5:5p13.2-11		 pathogenic
NM_001127671.2(LIFR):c.449C>A (p.Thr150Asn) single nucleotide variant Inborn genetic diseases [RCV003271641] Chr5:38523531 [GRCh38]
Chr5:38523633 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.1267A>G (p.Ile423Val) single nucleotide variant Stuve-Wiedemann syndrome [RCV001153093]|not provided [RCV001859001] Chr5:38505929 [GRCh38]
Chr5:38506031 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.*4841G>A single nucleotide variant Stuve-Wiedemann syndrome [RCV001156867] Chr5:38476754 [GRCh38]
Chr5:38476856 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.*3163T>A single nucleotide variant Stuve-Wiedemann syndrome [RCV001156975] Chr5:38478432 [GRCh38]
Chr5:38478534 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.*3162T>G single nucleotide variant Stuve-Wiedemann syndrome [RCV001156976] Chr5:38478433 [GRCh38]
Chr5:38478535 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.2063C>G (p.Ser688Cys) single nucleotide variant Stuve-Wiedemann syndrome [RCV001157296] Chr5:38493608 [GRCh38]
Chr5:38493710 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.*1952A>G single nucleotide variant Stuve-Wiedemann syndrome [RCV001154570] Chr5:38479643 [GRCh38]
Chr5:38479745 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.*3563T>C single nucleotide variant Stuve-Wiedemann syndrome [RCV001155303] Chr5:38478032 [GRCh38]
Chr5:38478134 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.*398C>G single nucleotide variant Stuve-Wiedemann syndrome [RCV001155521] Chr5:38481197 [GRCh38]
Chr5:38481299 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.2497+152C>T single nucleotide variant not provided [RCV001564613] Chr5:38485667 [GRCh38]
Chr5:38485769 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.562-222A>T single nucleotide variant not provided [RCV001569228] Chr5:38512186 [GRCh38]
Chr5:38512288 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.1438-243C>T single nucleotide variant not provided [RCV001545767] Chr5:38503042 [GRCh38]
Chr5:38503144 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.2336-163C>T single nucleotide variant not provided [RCV001565516] Chr5:38486143 [GRCh38]
Chr5:38486245 [GRCh37]
Chr5:5p13.1		 likely benign
NC_000005.9:g.(?_38484867)_(38486092_?)del deletion not provided [RCV003107631] Chr5:38484867..38486092 [GRCh37]
Chr5:5p13.1		 pathogenic
NC_000005.9:g.(?_33944753)_(39364566_?)dup duplication not provided [RCV003107632] Chr5:33944753..39364566 [GRCh37]
Chr5:5p13.2-13.1		 uncertain significance
NM_001127671.2(LIFR):c.2671-162T>A single nucleotide variant not provided [RCV001583607] Chr5:38482380 [GRCh38]
Chr5:38482482 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.991+84del deletion not provided [RCV001674015] Chr5:38510380 [GRCh38]
Chr5:38510482 [GRCh37]
Chr5:5p13.1		 benign
NM_001127671.2(LIFR):c.2671-162T>G single nucleotide variant not provided [RCV001707105] Chr5:38482380 [GRCh38]
Chr5:38482482 [GRCh37]
Chr5:5p13.1		 benign
NM_001127671.2(LIFR):c.1672-82G>A single nucleotide variant not provided [RCV001645747] Chr5:38496677 [GRCh38]
Chr5:38496779 [GRCh37]
Chr5:5p13.1		 benign
NM_001127671.2(LIFR):c.1671+261T>C single nucleotide variant not provided [RCV001639217] Chr5:38499252 [GRCh38]
Chr5:38499354 [GRCh37]
Chr5:5p13.1		 benign
NM_001127671.2(LIFR):c.1437+247G>A single nucleotide variant not provided [RCV001569543] Chr5:38503729 [GRCh38]
Chr5:38503831 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.1438-117G>A single nucleotide variant not provided [RCV001710532] Chr5:38502916 [GRCh38]
Chr5:38503018 [GRCh37]
Chr5:5p13.1		 benign
NM_001127671.2(LIFR):c.2671-184G>A single nucleotide variant not provided [RCV001613738] Chr5:38482402 [GRCh38]
Chr5:38482504 [GRCh37]
Chr5:5p13.1		 benign
GRCh37/hg19 5p13.2-11(chr5:36053583-46389339)x3 copy number gain musculoskeletal system issues [RCV002284293] Chr5:36053583..46389339 [GRCh37]
Chr5:5p13.2-11		 pathogenic
NM_001127671.2(LIFR):c.2592-112G>C single nucleotide variant not provided [RCV001558040] Chr5:38482779 [GRCh38]
Chr5:38482881 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.1886-238A>G single nucleotide variant not provided [RCV001565570] Chr5:38494023 [GRCh38]
Chr5:38494125 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.2167+21T>C single nucleotide variant Stuve-Wiedemann syndrome [RCV001543893]|not provided [RCV001685478] Chr5:38490169 [GRCh38]
Chr5:38490271 [GRCh37]
Chr5:5p13.1		 benign
NM_001127671.2(LIFR):c.142+122del deletion not provided [RCV001621849] Chr5:38530384 [GRCh38]
Chr5:38530486 [GRCh37]
Chr5:5p13.1		 benign
NM_001127671.2(LIFR):c.1601-79C>T single nucleotide variant not provided [RCV001547420] Chr5:38499662 [GRCh38]
Chr5:38499764 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.2385A>G (p.Thr795=) single nucleotide variant not provided [RCV000977995] Chr5:38485931 [GRCh38]
Chr5:38486033 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.1245G>T (p.Pro415=) single nucleotide variant not provided [RCV000936475] Chr5:38505951 [GRCh38]
Chr5:38506053 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.1080G>A (p.Ala360=) single nucleotide variant Stuve-Wiedemann syndrome [RCV001271682]|not provided [RCV000975315] Chr5:38506544 [GRCh38]
Chr5:38506646 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.1417T>C (p.Ser473Pro) single nucleotide variant Stuve-Wiedemann syndrome [RCV001271681]|not provided [RCV000896884] Chr5:38503996 [GRCh38]
Chr5:38504098 [GRCh37]
Chr5:5p13.1		 benign|uncertain significance
NM_001127671.2(LIFR):c.3060G>A (p.Glu1020=) single nucleotide variant Stuve-Wiedemann syndrome [RCV001151741]|not provided [RCV000941552] Chr5:38481829 [GRCh38]
Chr5:38481931 [GRCh37]
Chr5:5p13.1		 benign|uncertain significance
NM_001127671.2(LIFR):c.143-37GT[17] microsatellite not provided [RCV000974509] Chr5:38528849..38528850 [GRCh38]
Chr5:38528951..38528952 [GRCh37]
Chr5:5p13.1		 benign
NM_001127671.2(LIFR):c.2886C>T (p.Ala962=) single nucleotide variant Stuve-Wiedemann syndrome [RCV001832074]|not provided [RCV000917110] Chr5:38482003 [GRCh38]
Chr5:38482105 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.3084C>T (p.Tyr1028=) single nucleotide variant not provided [RCV000980437] Chr5:38481805 [GRCh38]
Chr5:38481907 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.1722G>A (p.Ser574=) single nucleotide variant Stuve-Wiedemann syndrome [RCV001271680]|Stüve-Wiedemann syndrome 1 [RCV002489264]|not provided [RCV000941465] Chr5:38496545 [GRCh38]
Chr5:38496647 [GRCh37]
Chr5:5p13.1		 benign|likely benign
NM_001127671.2(LIFR):c.2066-10C>G single nucleotide variant not provided [RCV000975887] Chr5:38490301 [GRCh38]
Chr5:38490403 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.96A>G (p.Thr32=) single nucleotide variant Stuve-Wiedemann syndrome [RCV001271683]|not provided [RCV000928662] Chr5:38530552 [GRCh38]
Chr5:38530654 [GRCh37]
Chr5:5p13.1		 likely benign|uncertain significance
NM_001127671.2(LIFR):c.1974C>T (p.Val658=) single nucleotide variant Stuve-Wiedemann syndrome [RCV001278387]|not provided [RCV000977603] Chr5:38493697 [GRCh38]
Chr5:38493799 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.3039G>C (p.Val1013=) single nucleotide variant Stuve-Wiedemann syndrome [RCV001832217]|not provided [RCV000974408] Chr5:38481850 [GRCh38]
Chr5:38481952 [GRCh37]
Chr5:5p13.1		 benign|likely benign
NM_001127671.2(LIFR):c.489T>G (p.Val163=) single nucleotide variant not provided [RCV000910956] Chr5:38523491 [GRCh38]
Chr5:38523593 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.1245G>A (p.Pro415=) single nucleotide variant Stuve-Wiedemann syndrome [RCV001153094]|not provided [RCV001440418] Chr5:38505951 [GRCh38]
Chr5:38506053 [GRCh37]
Chr5:5p13.1		 likely benign|uncertain significance
NM_001127671.2(LIFR):c.1194A>G (p.Gln398=) single nucleotide variant Stuve-Wiedemann syndrome [RCV001153095] Chr5:38506002 [GRCh38]
Chr5:38506104 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.*4020T>G single nucleotide variant Stuve-Wiedemann syndrome [RCV001154467] Chr5:38477575 [GRCh38]
Chr5:38477677 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.*2437A>G single nucleotide variant Stuve-Wiedemann syndrome [RCV001154566] Chr5:38479158 [GRCh38]
Chr5:38479260 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.*2360A>C single nucleotide variant Stuve-Wiedemann syndrome [RCV001154567] Chr5:38479235 [GRCh38]
Chr5:38479337 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.*1972C>T single nucleotide variant Stuve-Wiedemann syndrome [RCV001154568] Chr5:38479623 [GRCh38]
Chr5:38479725 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.1789C>G (p.Arg597Gly) single nucleotide variant Stuve-Wiedemann syndrome [RCV001151853] Chr5:38496478 [GRCh38]
Chr5:38496580 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.*517T>C single nucleotide variant Stuve-Wiedemann syndrome [RCV001155517] Chr5:38481078 [GRCh38]
Chr5:38481180 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.1435C>T (p.Gln479Ter) single nucleotide variant not provided [RCV001243803] Chr5:38503978 [GRCh38]
Chr5:38504080 [GRCh37]
Chr5:5p13.1		 pathogenic
NM_001127671.2(LIFR):c.2497+14T>G single nucleotide variant Stuve-Wiedemann syndrome [RCV001155631]|not provided [RCV002070913] Chr5:38485805 [GRCh38]
Chr5:38485907 [GRCh37]
Chr5:5p13.1		 benign|likely benign
NM_001127671.2(LIFR):c.258G>T (p.Arg86Ser) single nucleotide variant Inborn genetic diseases [RCV004629470]|Stuve-Wiedemann syndrome [RCV001155709]|Stüve-Wiedemann syndrome 1 [RCV003142084] Chr5:38527294 [GRCh38]
Chr5:38527396 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.*6395T>C single nucleotide variant Stuve-Wiedemann syndrome [RCV001156765]|not provided [RCV003425957] Chr5:38475200 [GRCh38]
Chr5:38475302 [GRCh37]
Chr5:5p13.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001127671.2(LIFR):c.*6386A>G single nucleotide variant Stuve-Wiedemann syndrome [RCV001156766] Chr5:38475209 [GRCh38]
Chr5:38475311 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.*320C>T single nucleotide variant Stuve-Wiedemann syndrome [RCV001157206]|not provided [RCV004694999] Chr5:38481275 [GRCh38]
Chr5:38481377 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.*9C>A single nucleotide variant Stuve-Wiedemann syndrome [RCV001157209] Chr5:38481586 [GRCh38]
Chr5:38481688 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.1550G>A (p.Trp517Ter) single nucleotide variant not provided [RCV001058701] Chr5:38502687 [GRCh38]
Chr5:38502789 [GRCh37]
Chr5:5p13.1		 pathogenic
NM_001127671.2(LIFR):c.9T>G (p.Asp3Glu) single nucleotide variant Stuve-Wiedemann syndrome [RCV001157404] Chr5:38530639 [GRCh38]
Chr5:38530741 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.-19G>C single nucleotide variant Stuve-Wiedemann syndrome [RCV001157405] Chr5:38530666 [GRCh38]
Chr5:38530768 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.1671+134T>C single nucleotide variant not provided [RCV001530622] Chr5:38499379 [GRCh38]
Chr5:38499481 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.1885+222A>G single nucleotide variant not provided [RCV001620984] Chr5:38496160 [GRCh38]
Chr5:38496262 [GRCh37]
Chr5:5p13.1		 benign
NM_001127671.2(LIFR):c.1600+249A>G single nucleotide variant not provided [RCV001557205] Chr5:38502388 [GRCh38]
Chr5:38502490 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.2948C>G (p.Pro983Arg) single nucleotide variant Stuve-Wiedemann syndrome [RCV001827460]|Stüve-Wiedemann syndrome 1 [RCV002506657]|not provided [RCV001552587] Chr5:38481941 [GRCh38]
Chr5:38482043 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.2065+142C>T single nucleotide variant not provided [RCV001609031] Chr5:38493464 [GRCh38]
Chr5:38493566 [GRCh37]
Chr5:5p13.1		 benign
NM_001127671.2(LIFR):c.143-316A>G single nucleotide variant not provided [RCV001568433] Chr5:38529156 [GRCh38]
Chr5:38529258 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.991+99C>T single nucleotide variant not provided [RCV001564311] Chr5:38510365 [GRCh38]
Chr5:38510467 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.561+216A>G single nucleotide variant Stuve-Wiedemann syndrome [RCV001543895]|not provided [RCV001615270] Chr5:38523203 [GRCh38]
Chr5:38523305 [GRCh37]
Chr5:5p13.1		 benign
NM_001127671.2(LIFR):c.1438-63AT[6] microsatellite not provided [RCV001560382] Chr5:38502852..38502853 [GRCh38]
Chr5:38502954..38502955 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.2066-348C>T single nucleotide variant not provided [RCV001556486] Chr5:38490639 [GRCh38]
Chr5:38490741 [GRCh37]
Chr5:5p13.1		 likely benign
GRCh37/hg19 5p13.1(chr5:38442668-38633264)x1 copy number loss not provided [RCV002473682] Chr5:38442668..38633264 [GRCh37]
Chr5:5p13.1		 uncertain significance
GRCh37/hg19 5p13.1-q11.1(chr5:38432180-49441945)x3 copy number gain not provided [RCV001005674] Chr5:38432180..49441945 [GRCh37]
Chr5:5p13.1-q11.1		 pathogenic
NM_001127671.2(LIFR):c.991+299G>A single nucleotide variant not provided [RCV001593377] Chr5:38510165 [GRCh38]
Chr5:38510267 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.2671-143_2671-119del deletion not provided [RCV001676232] Chr5:38482337..38482361 [GRCh38]
Chr5:38482439..38482463 [GRCh37]
Chr5:5p13.1		 benign
NM_001127671.2(LIFR):c.992-246A>G single nucleotide variant not provided [RCV001710722] Chr5:38506878 [GRCh38]
Chr5:38506980 [GRCh37]
Chr5:5p13.1		 benign
NM_001127671.2(LIFR):c.561+212G>A single nucleotide variant not provided [RCV001637670] Chr5:38523207 [GRCh38]
Chr5:38523309 [GRCh37]
Chr5:5p13.1		 benign
NM_001127671.2(LIFR):c.2066-285G>A single nucleotide variant not provided [RCV001592156] Chr5:38490576 [GRCh38]
Chr5:38490678 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.2671-152del deletion not provided [RCV001598981] Chr5:38482370 [GRCh38]
Chr5:38482472 [GRCh37]
Chr5:5p13.1		 benign
NM_001127671.2(LIFR):c.*5421A>G single nucleotide variant Stuve-Wiedemann syndrome [RCV001155208] Chr5:38476174 [GRCh38]
Chr5:38476276 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.*5107A>G single nucleotide variant Stuve-Wiedemann syndrome [RCV001155210] Chr5:38476488 [GRCh38]
Chr5:38476590 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.2051C>G (p.Thr684Ser) single nucleotide variant Stuve-Wiedemann syndrome [RCV001157297] Chr5:38493620 [GRCh38]
Chr5:38493722 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.*6491A>G single nucleotide variant Stuve-Wiedemann syndrome [RCV001156763] Chr5:38475104 [GRCh38]
Chr5:38475206 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.*3074A>G single nucleotide variant Stuve-Wiedemann syndrome [RCV001156978] Chr5:38478521 [GRCh38]
Chr5:38478623 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.*1474T>G single nucleotide variant Stuve-Wiedemann syndrome [RCV001157092]|not provided [RCV003433056] Chr5:38480121 [GRCh38]
Chr5:38480223 [GRCh37]
Chr5:5p13.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001127671.2(LIFR):c.*212T>C single nucleotide variant Stuve-Wiedemann syndrome [RCV001157207] Chr5:38481383 [GRCh38]
Chr5:38481485 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.*6483C>A single nucleotide variant Stuve-Wiedemann syndrome [RCV001156764] Chr5:38475112 [GRCh38]
Chr5:38475214 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.*4154A>G single nucleotide variant Stuve-Wiedemann syndrome [RCV001154466] Chr5:38477441 [GRCh38]
Chr5:38477543 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.*3852C>G single nucleotide variant Stuve-Wiedemann syndrome [RCV001154468] Chr5:38477743 [GRCh38]
Chr5:38477845 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.*6380G>C single nucleotide variant Stuve-Wiedemann syndrome [RCV001151315] Chr5:38475215 [GRCh38]
Chr5:38475317 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.2737A>G (p.Thr913Ala) single nucleotide variant Stuve-Wiedemann syndrome [RCV001152983] Chr5:38482152 [GRCh38]
Chr5:38482254 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.2692T>C (p.Leu898=) single nucleotide variant Stuve-Wiedemann syndrome [RCV001152984]|not provided [RCV001425315] Chr5:38482197 [GRCh38]
Chr5:38482299 [GRCh37]
Chr5:5p13.1		 likely benign|uncertain significance
NM_001127671.2(LIFR):c.*972C>T single nucleotide variant Stuve-Wiedemann syndrome [RCV001154686] Chr5:38480623 [GRCh38]
Chr5:38480725 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.1134A>T (p.Lys378Asn) single nucleotide variant Inborn genetic diseases [RCV003353179]|Stuve-Wiedemann syndrome [RCV001153096] Chr5:38506062 [GRCh38]
Chr5:38506164 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.991+10T>C single nucleotide variant Stuve-Wiedemann syndrome [RCV001153097] Chr5:38510454 [GRCh38]
Chr5:38510556 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.*3470G>T single nucleotide variant Stuve-Wiedemann syndrome [RCV001155304] Chr5:38478125 [GRCh38]
Chr5:38478227 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.*415A>G single nucleotide variant Stuve-Wiedemann syndrome [RCV001155520] Chr5:38481180 [GRCh38]
Chr5:38481282 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.*933G>A single nucleotide variant Stuve-Wiedemann syndrome [RCV001154687] Chr5:38480662 [GRCh38]
Chr5:38480764 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.*443C>T single nucleotide variant Stuve-Wiedemann syndrome [RCV001155518] Chr5:38481152 [GRCh38]
Chr5:38481254 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.143-39_143-28del deletion not provided [RCV001669852] Chr5:38528868..38528879 [GRCh38]
Chr5:38528970..38528981 [GRCh37]
Chr5:5p13.1		 benign
NM_001127671.2(LIFR):c.143-228dup duplication not provided [RCV001587148] Chr5:38529059..38529060 [GRCh38]
Chr5:38529161..38529162 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.1122-129T>C single nucleotide variant not provided [RCV001567490] Chr5:38506203 [GRCh38]
Chr5:38506305 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.1522C>T (p.Arg508Trp) single nucleotide variant Stuve-Wiedemann syndrome [RCV001151855] Chr5:38502715 [GRCh38]
Chr5:38502817 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.143-60A>G single nucleotide variant Stuve-Wiedemann syndrome [RCV001000230]|not provided [RCV001615102] Chr5:38528900 [GRCh38]
Chr5:38529002 [GRCh37]
Chr5:5p13.1		 benign
NM_001127671.2(LIFR):c.2670+6C>G single nucleotide variant LIFR-related disorder [RCV003962986]|Stuve-Wiedemann syndrome [RCV001000645]|not provided [RCV002550738] Chr5:38482583 [GRCh38]
Chr5:38482685 [GRCh37]
Chr5:5p13.1		 likely benign|uncertain significance
NM_001127671.2(LIFR):c.737-221A>G single nucleotide variant not provided [RCV001583038] Chr5:38510939 [GRCh38]
Chr5:38511041 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.-19-182C>T single nucleotide variant not provided [RCV001590377] Chr5:38530848 [GRCh38]
Chr5:38530950 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.143-39C>G single nucleotide variant Stuve-Wiedemann syndrome [RCV001543897] Chr5:38528879 [GRCh38]
Chr5:38528981 [GRCh37]
Chr5:5p13.1		 benign
NM_001127671.2(LIFR):c.2671-158_2671-157insTTTT insertion not provided [RCV001670675] Chr5:38482375..38482376 [GRCh38]
Chr5:38482477..38482478 [GRCh37]
Chr5:5p13.1		 benign
NM_001127671.2(LIFR):c.257+66dup duplication not provided [RCV001583970] Chr5:38528659..38528660 [GRCh38]
Chr5:38528761..38528762 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.2444C>G (p.Thr815Arg) single nucleotide variant Stuve-Wiedemann syndrome [RCV001034610] Chr5:38485872 [GRCh38]
Chr5:38485974 [GRCh37]
Chr5:5p13.1		 likely pathogenic
NM_001127671.2(LIFR):c.2066-74T>G single nucleotide variant Stuve-Wiedemann syndrome [RCV001001559]|not provided [RCV001547608] Chr5:38490365 [GRCh38]
Chr5:38490467 [GRCh37]
Chr5:5p13.1		 benign|likely benign
NM_001127671.2(LIFR):c.1042G>T (p.Glu348Ter) single nucleotide variant not provided [RCV001207519] Chr5:38506582 [GRCh38]
Chr5:38506684 [GRCh37]
Chr5:5p13.1		 pathogenic
NM_001127671.2(LIFR):c.2327del (p.Val775_Leu776insTer) deletion not provided [RCV001041389] Chr5:38489086 [GRCh38]
Chr5:38489188 [GRCh37]
Chr5:5p13.1		 pathogenic
NM_001127671.2(LIFR):c.756dup (p.Lys253Ter) duplication Stuve-Wiedemann syndrome [RCV001809981]|Stüve-Wiedemann syndrome 1 [RCV002286811]|not provided [RCV001091485] Chr5:38510698..38510699 [GRCh38]
Chr5:38510800..38510801 [GRCh37]
Chr5:5p13.1		 pathogenic
NM_001127671.2(LIFR):c.*3330C>A single nucleotide variant Stuve-Wiedemann syndrome [RCV001155306] Chr5:38478265 [GRCh38]
Chr5:38478367 [GRCh37]
Chr5:5p13.1		 benign
NM_001127671.2(LIFR):c.*1643G>A single nucleotide variant Stuve-Wiedemann syndrome [RCV001155410] Chr5:38479952 [GRCh38]
Chr5:38480054 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.*4346G>A single nucleotide variant Stuve-Wiedemann syndrome [RCV001151440] Chr5:38477249 [GRCh38]
Chr5:38477351 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.*2746T>A single nucleotide variant Stuve-Wiedemann syndrome [RCV001151555] Chr5:38478849 [GRCh38]
Chr5:38478951 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.*4735C>A single nucleotide variant Stuve-Wiedemann syndrome [RCV001151439] Chr5:38476860 [GRCh38]
Chr5:38476962 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.*2825G>A single nucleotide variant Stuve-Wiedemann syndrome [RCV001151554] Chr5:38478770 [GRCh38]
Chr5:38478872 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.*5004A>G single nucleotide variant Stuve-Wiedemann syndrome [RCV001156866] Chr5:38476591 [GRCh38]
Chr5:38476693 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.*1291G>A single nucleotide variant Stuve-Wiedemann syndrome [RCV001151645] Chr5:38480304 [GRCh38]
Chr5:38480406 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.*1086A>C single nucleotide variant Stuve-Wiedemann syndrome [RCV001151646] Chr5:38480509 [GRCh38]
Chr5:38480611 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.*3085G>T single nucleotide variant Stuve-Wiedemann syndrome [RCV001156977] Chr5:38478510 [GRCh38]
Chr5:38478612 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.2584C>T (p.Arg862Ter) single nucleotide variant not provided [RCV001218259] Chr5:38484782 [GRCh38]
Chr5:38484884 [GRCh37]
Chr5:5p13.1		 pathogenic
NM_001127671.2(LIFR):c.*657C>T single nucleotide variant Stuve-Wiedemann syndrome [RCV001154688] Chr5:38480938 [GRCh38]
Chr5:38481040 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.1424C>T (p.Ser475Leu) single nucleotide variant Stuve-Wiedemann syndrome [RCV001153092]|not provided [RCV001859000] Chr5:38503989 [GRCh38]
Chr5:38504091 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.*5206A>G single nucleotide variant Stuve-Wiedemann syndrome [RCV001155209] Chr5:38476389 [GRCh38]
Chr5:38476491 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.*3449G>T single nucleotide variant Stuve-Wiedemann syndrome [RCV001155305] Chr5:38478146 [GRCh38]
Chr5:38478248 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.*1840C>G single nucleotide variant Stuve-Wiedemann syndrome [RCV001155408] Chr5:38479755 [GRCh38]
Chr5:38479857 [GRCh37]
Chr5:5p13.1		 benign
NM_001127671.2(LIFR):c.2401C>G (p.Leu801Val) single nucleotide variant Stuve-Wiedemann syndrome [RCV001155632] Chr5:38485915 [GRCh38]
Chr5:38486017 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.562-12G>A single nucleotide variant Stuve-Wiedemann syndrome [RCV001155708]|not provided [RCV002070914] Chr5:38511976 [GRCh38]
Chr5:38512078 [GRCh37]
Chr5:5p13.1		 likely benign|uncertain significance
NM_001127671.2(LIFR):c.*5925C>A single nucleotide variant Stuve-Wiedemann syndrome [RCV001154360] Chr5:38475670 [GRCh38]
Chr5:38475772 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.147T>G (p.Ala49=) single nucleotide variant Stuve-Wiedemann syndrome [RCV001000646]|not provided [RCV001417152] Chr5:38528836 [GRCh38]
Chr5:38528938 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.*3753G>C single nucleotide variant Stuve-Wiedemann syndrome [RCV001155302] Chr5:38477842 [GRCh38]
Chr5:38477944 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.*426G>A single nucleotide variant Stuve-Wiedemann syndrome [RCV001155519] Chr5:38481169 [GRCh38]
Chr5:38481271 [GRCh37]
Chr5:5p13.1		 benign
NM_001127671.2(LIFR):c.2434C>T (p.Arg812Ter) single nucleotide variant Stuve-Wiedemann syndrome [RCV001828712]|not provided [RCV001214893] Chr5:38485882 [GRCh38]
Chr5:38485984 [GRCh37]
Chr5:5p13.1		 pathogenic
NM_001127671.2(LIFR):c.*5060T>A single nucleotide variant Stuve-Wiedemann syndrome [RCV001156865]|not provided [RCV004694996] Chr5:38476535 [GRCh38]
Chr5:38476637 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.*4799A>G single nucleotide variant Stuve-Wiedemann syndrome [RCV001156868] Chr5:38476796 [GRCh38]
Chr5:38476898 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.*3182G>A single nucleotide variant Stuve-Wiedemann syndrome [RCV001156974] Chr5:38478413 [GRCh38]
Chr5:38478515 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.*10C>T single nucleotide variant Stuve-Wiedemann syndrome [RCV001157208] Chr5:38481585 [GRCh38]
Chr5:38481687 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.2001G>A (p.Ser667=) single nucleotide variant Stuve-Wiedemann syndrome [RCV001157298]|not provided [RCV003433057] Chr5:38493670 [GRCh38]
Chr5:38493772 [GRCh37]
Chr5:5p13.1		 likely benign|uncertain significance
NM_001127671.2(LIFR):c.*1968A>C single nucleotide variant Stuve-Wiedemann syndrome [RCV001154569] Chr5:38479627 [GRCh38]
Chr5:38479729 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.991+78G>C single nucleotide variant not provided [RCV001545336] Chr5:38510386 [GRCh38]
Chr5:38510488 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.1122-209T>A single nucleotide variant not provided [RCV001580934] Chr5:38506283 [GRCh38]
Chr5:38506385 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.1886-9T>A single nucleotide variant Global developmental delay [RCV001257267] Chr5:38493794 [GRCh38]
Chr5:38493896 [GRCh37]
Chr5:5p13.1		 uncertain significance
GRCh37/hg19 5p13.1(chr5:38411731-38553384)x1 copy number loss not provided [RCV001258677] Chr5:38411731..38553384 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.1705C>G (p.Leu569Val) single nucleotide variant Stuve-Wiedemann syndrome [RCV001825974]|not provided [RCV001351549] Chr5:38496562 [GRCh38]
Chr5:38496664 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.808T>G (p.Cys270Gly) single nucleotide variant Stuve-Wiedemann syndrome [RCV001290338]|not provided [RCV004590302] Chr5:38510647 [GRCh38]
Chr5:38510749 [GRCh37]
Chr5:5p13.1		 uncertain significance
GRCh37/hg19 5p13.3-12(chr5:29081195-45294031)x3 copy number gain See cases [RCV001310288] Chr5:29081195..45294031 [GRCh37]
Chr5:5p13.3-12		 pathogenic
NM_001127671.2(LIFR):c.2962GAA[2] (p.Glu990del) microsatellite not provided [RCV001350660] Chr5:38481919..38481921 [GRCh38]
Chr5:38482021..38482023 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.1974C>A (p.Val658=) single nucleotide variant not provided [RCV001396506] Chr5:38493697 [GRCh38]
Chr5:38493799 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.3275A>G (p.Gln1092Arg) single nucleotide variant not provided [RCV001361441] Chr5:38481614 [GRCh38]
Chr5:38481716 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.2066-4A>G single nucleotide variant not provided [RCV001415476] Chr5:38490295 [GRCh38]
Chr5:38490397 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.1749C>T (p.Ser583=) single nucleotide variant not provided [RCV001414733] Chr5:38496518 [GRCh38]
Chr5:38496620 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.1460T>C (p.Val487Ala) single nucleotide variant not provided [RCV001307220] Chr5:38502777 [GRCh38]
Chr5:38502879 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.2604C>T (p.Thr868=) single nucleotide variant not provided [RCV001397376] Chr5:38482655 [GRCh38]
Chr5:38482757 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.737-6T>C single nucleotide variant not provided [RCV001423034] Chr5:38510724 [GRCh38]
Chr5:38510826 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.143-37GT[22] microsatellite not provided [RCV001395811] Chr5:38528849..38528850 [GRCh38]
Chr5:38528951..38528952 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.2643A>G (p.Ala881=) single nucleotide variant not provided [RCV001395851] Chr5:38482616 [GRCh38]
Chr5:38482718 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.142+9A>C single nucleotide variant not provided [RCV001423045] Chr5:38530497 [GRCh38]
Chr5:38530599 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.2910A>G (p.Ala970=) single nucleotide variant Stüve-Wiedemann syndrome 1 [RCV003761222]|not provided [RCV001396360] Chr5:38481979 [GRCh38]
Chr5:38482081 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.143-37GT[20] microsatellite not provided [RCV001392316] Chr5:38528849..38528850 [GRCh38]
Chr5:38528951..38528952 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.1469C>G (p.Ser490Ter) single nucleotide variant Stüve-Wiedemann syndrome 1 [RCV003147630]|not provided [RCV001383302] Chr5:38502768 [GRCh38]
Chr5:38502870 [GRCh37]
Chr5:5p13.1		 pathogenic
NM_001127671.2(LIFR):c.1171G>A (p.Glu391Lys) single nucleotide variant Stuve-Wiedemann syndrome [RCV001831310]|not provided [RCV001372025] Chr5:38506025 [GRCh38]
Chr5:38506127 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.183A>C (p.Gln61His) single nucleotide variant Stuve-Wiedemann syndrome [RCV001278390]|not provided [RCV002541681] Chr5:38528800 [GRCh38]
Chr5:38528902 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.2591+6A>T single nucleotide variant Stuve-Wiedemann syndrome [RCV001278386]|not provided [RCV001342661] Chr5:38484769 [GRCh38]
Chr5:38484871 [GRCh37]
Chr5:5p13.1		 likely benign|uncertain significance
NM_001127671.2(LIFR):c.231T>C (p.Thr77=) single nucleotide variant Stuve-Wiedemann syndrome [RCV001278389]|Stüve-Wiedemann syndrome 1 [RCV002493474] Chr5:38528752 [GRCh38]
Chr5:38528854 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.737G>T (p.Trp246Leu) single nucleotide variant Stuve-Wiedemann syndrome [RCV001330915] Chr5:38510718 [GRCh38]
Chr5:38510820 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.2887G>A (p.Ala963Thr) single nucleotide variant Stuve-Wiedemann syndrome [RCV001831251]|not provided [RCV001364512] Chr5:38482002 [GRCh38]
Chr5:38482104 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.2910A>C (p.Ala970=) single nucleotide variant not provided [RCV001395928] Chr5:38481979 [GRCh38]
Chr5:38482081 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.1512A>G (p.Leu504=) single nucleotide variant not provided [RCV001414203] Chr5:38502725 [GRCh38]
Chr5:38502827 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.2642C>T (p.Ala881Val) single nucleotide variant Stuve-Wiedemann syndrome [RCV001278385] Chr5:38482617 [GRCh38]
Chr5:38482719 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.1122-10T>C single nucleotide variant not provided [RCV001396466] Chr5:38506084 [GRCh38]
Chr5:38506186 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.2336G>T (p.Gly779Val) single nucleotide variant not provided [RCV001365604] Chr5:38485980 [GRCh38]
Chr5:38486082 [GRCh37]
Chr5:5p13.1		 likely pathogenic|uncertain significance
NM_001127671.2(LIFR):c.398-8T>G single nucleotide variant not provided [RCV001413176] Chr5:38523590 [GRCh38]
Chr5:38523692 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.143-37GT[18] microsatellite not provided [RCV001430069] Chr5:38528849..38528850 [GRCh38]
Chr5:38528951..38528952 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.2895A>G (p.Glu965=) single nucleotide variant not provided [RCV001453464] Chr5:38481994 [GRCh38]
Chr5:38482096 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.1947C>T (p.Tyr649=) single nucleotide variant not provided [RCV001473289] Chr5:38493724 [GRCh38]
Chr5:38493826 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.143-21_143-7del deletion not provided [RCV001492358] Chr5:38528847..38528861 [GRCh38]
Chr5:38528949..38528963 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.2808C>T (p.Arg936=) single nucleotide variant not provided [RCV001454862] Chr5:38482081 [GRCh38]
Chr5:38482183 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.1785G>A (p.Glu595=) single nucleotide variant not provided [RCV001505708] Chr5:38496482 [GRCh38]
Chr5:38496584 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.737-13dup duplication not provided [RCV001522688] Chr5:38510726..38510727 [GRCh38]
Chr5:38510828..38510829 [GRCh37]
Chr5:5p13.1		 benign
NM_001127671.2(LIFR):c.1731A>G (p.Ser577=) single nucleotide variant not provided [RCV001470257] Chr5:38496536 [GRCh38]
Chr5:38496638 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.2418T>C (p.Ser806=) single nucleotide variant not provided [RCV001506058] Chr5:38485898 [GRCh38]
Chr5:38486000 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.468G>A (p.Lys156=) single nucleotide variant not provided [RCV001458387] Chr5:38523512 [GRCh38]
Chr5:38523614 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.2168-8dup duplication not provided [RCV001475289] Chr5:38489249..38489250 [GRCh38]
Chr5:38489351..38489352 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.696C>T (p.Leu232=) single nucleotide variant not provided [RCV001479648] Chr5:38511830 [GRCh38]
Chr5:38511932 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.2103G>A (p.Leu701=) single nucleotide variant not provided [RCV001500188] Chr5:38490254 [GRCh38]
Chr5:38490356 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.399C>G (p.Ser133=) single nucleotide variant not provided [RCV001478920] Chr5:38523581 [GRCh38]
Chr5:38523683 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.3009A>C (p.Pro1003=) single nucleotide variant not provided [RCV001469082] Chr5:38481880 [GRCh38]
Chr5:38481982 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.474C>T (p.Asn158=) single nucleotide variant LIFR-related disorder [RCV003965983]|not provided [RCV001485275] Chr5:38523506 [GRCh38]
Chr5:38523608 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.2832T>C (p.His944=) single nucleotide variant not provided [RCV001492829] Chr5:38482057 [GRCh38]
Chr5:38482159 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.168A>C (p.Val56=) single nucleotide variant not provided [RCV001469498] Chr5:38528815 [GRCh38]
Chr5:38528917 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.1485_1486delinsCT (p.Ala495_Leu496=) indel not provided [RCV001474448] Chr5:38502751..38502752 [GRCh38]
Chr5:38502853..38502854 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.720T>C (p.Pro240=) single nucleotide variant not provided [RCV001486865] Chr5:38511806 [GRCh38]
Chr5:38511908 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.1186T>C (p.Leu396=) single nucleotide variant not provided [RCV001477837] Chr5:38506010 [GRCh38]
Chr5:38506112 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.3264A>G (p.Thr1088=) single nucleotide variant not provided [RCV001437512] Chr5:38481625 [GRCh38]
Chr5:38481727 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.2448T>C (p.Asp816=) single nucleotide variant not provided [RCV001504759] Chr5:38485868 [GRCh38]
Chr5:38485970 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.991+2T>C single nucleotide variant not provided [RCV001379607] Chr5:38510462 [GRCh38]
Chr5:38510564 [GRCh37]
Chr5:5p13.1		 likely pathogenic
NM_001127671.2(LIFR):c.562-2A>C single nucleotide variant not provided [RCV001377036] Chr5:38511966 [GRCh38]
Chr5:38512068 [GRCh37]
Chr5:5p13.1		 likely pathogenic
NM_001127671.2(LIFR):c.2289T>C (p.Phe763=) single nucleotide variant not provided [RCV001456232] Chr5:38489124 [GRCh38]
Chr5:38489226 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.2326_2327dup (p.Leu776fs) duplication not provided [RCV001384175] Chr5:38489085..38489086 [GRCh38]
Chr5:38489187..38489188 [GRCh37]
Chr5:5p13.1		 pathogenic
NM_001127671.2(LIFR):c.463C>T (p.Leu155=) single nucleotide variant LIFR-related disorder [RCV003965831]|not provided [RCV001435066] Chr5:38523517 [GRCh38]
Chr5:38523619 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.90A>G (p.Leu30=) single nucleotide variant not provided [RCV001440581] Chr5:38530558 [GRCh38]
Chr5:38530660 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.294T>C (p.Ile98=) single nucleotide variant not provided [RCV001401678] Chr5:38527258 [GRCh38]
Chr5:38527360 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.1461A>G (p.Val487=) single nucleotide variant not provided [RCV001445931] Chr5:38502776 [GRCh38]
Chr5:38502878 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.2509_2512del (p.Ile837fs) microsatellite not provided [RCV001384657] Chr5:38484854..38484857 [GRCh38]
Chr5:38484956..38484959 [GRCh37]
Chr5:5p13.1		 pathogenic
NM_001127671.2(LIFR):c.69T>G (p.Ala23=) single nucleotide variant not provided [RCV001411918] Chr5:38530579 [GRCh38]
Chr5:38530681 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.397+1G>T single nucleotide variant not provided [RCV001378159] Chr5:38527154 [GRCh38]
Chr5:38527256 [GRCh37]
Chr5:5p13.1		 likely pathogenic
NM_001127671.2(LIFR):c.795A>G (p.Ser265=) single nucleotide variant not provided [RCV001404752] Chr5:38510660 [GRCh38]
Chr5:38510762 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.1503A>C (p.Pro501=) single nucleotide variant not provided [RCV001435638] Chr5:38502734 [GRCh38]
Chr5:38502836 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.1716T>C (p.Asn572=) single nucleotide variant LIFR-related disorder [RCV003973297]|not provided [RCV001440939] Chr5:38496551 [GRCh38]
Chr5:38496653 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.1434G>A (p.Glu478=) single nucleotide variant not provided [RCV001399956] Chr5:38503979 [GRCh38]
Chr5:38504081 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.1581A>G (p.Gln527=) single nucleotide variant not provided [RCV001441896] Chr5:38502656 [GRCh38]
Chr5:38502758 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.2007A>G (p.Pro669=) single nucleotide variant not provided [RCV001449542] Chr5:38493664 [GRCh38]
Chr5:38493766 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.1601-10T>C single nucleotide variant not provided [RCV001447287] Chr5:38499593 [GRCh38]
Chr5:38499695 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.736+1G>C single nucleotide variant not provided [RCV001378285] Chr5:38511789 [GRCh38]
Chr5:38511891 [GRCh37]
Chr5:5p13.1		 likely pathogenic
NM_001127671.2(LIFR):c.393C>T (p.Asn131=) single nucleotide variant not provided [RCV001437461] Chr5:38527159 [GRCh38]
Chr5:38527261 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.3147C>T (p.Asp1049=) single nucleotide variant not provided [RCV001410705] Chr5:38481742 [GRCh38]
Chr5:38481844 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.1626dup (p.Arg543fs) duplication not provided [RCV001385442] Chr5:38499557..38499558 [GRCh38]
Chr5:38499659..38499660 [GRCh37]
Chr5:5p13.1		 pathogenic
NM_001127671.2(LIFR):c.258-2A>C single nucleotide variant not provided [RCV001379730] Chr5:38527296 [GRCh38]
Chr5:38527398 [GRCh37]
Chr5:5p13.1		 likely pathogenic
NM_001127671.2(LIFR):c.378A>G (p.Thr126=) single nucleotide variant not provided [RCV001401280] Chr5:38527174 [GRCh38]
Chr5:38527276 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.564G>A (p.Val188=) single nucleotide variant not provided [RCV001411025] Chr5:38511962 [GRCh38]
Chr5:38512064 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.225T>G (p.Arg75=) single nucleotide variant not provided [RCV001411165] Chr5:38528758 [GRCh38]
Chr5:38528860 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.1290del (p.Val431fs) deletion not provided [RCV001387860] Chr5:38505906 [GRCh38]
Chr5:38506008 [GRCh37]
Chr5:5p13.1		 pathogenic
NM_001127671.2(LIFR):c.1425A>T (p.Ser475=) single nucleotide variant not provided [RCV001440651] Chr5:38503988 [GRCh38]
Chr5:38504090 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.1170C>T (p.Asn390=) single nucleotide variant not provided [RCV001448419] Chr5:38506026 [GRCh38]
Chr5:38506128 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.1803T>C (p.Asn601=) single nucleotide variant not provided [RCV001409337] Chr5:38496464 [GRCh38]
Chr5:38496566 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.2335+9del deletion not provided [RCV001446000] Chr5:38489069 [GRCh38]
Chr5:38489171 [GRCh37]
Chr5:5p13.1		 likely benign
GRCh37/hg19 5p13.2-11(chr5:34984696-46405042)x3 copy number gain not provided [RCV001537930] Chr5:34984696..46405042 [GRCh37]
Chr5:5p13.2-11		 pathogenic
NM_001127671.2(LIFR):c.258-132G>A single nucleotide variant not provided [RCV001541024] Chr5:38527426 [GRCh38]
Chr5:38527528 [GRCh37]
Chr5:5p13.1		 benign
NM_001127671.2(LIFR):c.1672-148C>T single nucleotide variant not provided [RCV001617225] Chr5:38496743 [GRCh38]
Chr5:38496845 [GRCh37]
Chr5:5p13.1		 benign
NM_001127671.2(LIFR):c.87G>T (p.Leu29=) single nucleotide variant not provided [RCV001450993] Chr5:38530561 [GRCh38]
Chr5:38530663 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.2498-243G>T single nucleotide variant not provided [RCV001690826] Chr5:38485111 [GRCh38]
Chr5:38485213 [GRCh37]
Chr5:5p13.1		 benign
NM_001127671.2(LIFR):c.2109A>G (p.Gly703=) single nucleotide variant not provided [RCV001458366] Chr5:38490248 [GRCh38]
Chr5:38490350 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.261C>T (p.Ser87=) single nucleotide variant not provided [RCV001462000] Chr5:38527291 [GRCh38]
Chr5:38527393 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.2221T>C (p.Leu741=) single nucleotide variant not provided [RCV001469406] Chr5:38489192 [GRCh38]
Chr5:38489294 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.843G>T (p.Leu281=) single nucleotide variant not provided [RCV001491158] Chr5:38510612 [GRCh38]
Chr5:38510714 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.219A>C (p.Thr73=) single nucleotide variant not provided [RCV001451892] Chr5:38528764 [GRCh38]
Chr5:38528866 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.882G>A (p.Gly294=) single nucleotide variant not provided [RCV001479698] Chr5:38510573 [GRCh38]
Chr5:38510675 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.3078G>C (p.Ala1026=) single nucleotide variant not provided [RCV001462756] Chr5:38481811 [GRCh38]
Chr5:38481913 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.143-5_143-3del microsatellite LIFR-related disorder [RCV003940934]|Stuve-Wiedemann syndrome [RCV001832698]|not provided [RCV001516739] Chr5:38528843..38528845 [GRCh38]
Chr5:38528945..38528947 [GRCh37]
Chr5:5p13.1		 benign|likely benign
NM_001127671.2(LIFR):c.1183T>C (p.Leu395=) single nucleotide variant not provided [RCV001480230] Chr5:38506013 [GRCh38]
Chr5:38506115 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.2671-149_2671-148insTCCG insertion not provided [RCV001694487] Chr5:38482366..38482367 [GRCh38]
Chr5:38482468..38482469 [GRCh37]
Chr5:5p13.1		 benign
NM_001127671.2(LIFR):c.1672-180C>T single nucleotide variant not provided [RCV001694557] Chr5:38496775 [GRCh38]
Chr5:38496877 [GRCh37]
Chr5:5p13.1		 benign
NM_001127671.2(LIFR):c.2167+5G>A single nucleotide variant not provided [RCV001591503] Chr5:38490185 [GRCh38]
Chr5:38490287 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.996A>G (p.Pro332=) single nucleotide variant not provided [RCV001463676] Chr5:38506628 [GRCh38]
Chr5:38506730 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.2671-150A>T single nucleotide variant not provided [RCV001616216] Chr5:38482368 [GRCh38]
Chr5:38482470 [GRCh37]
Chr5:5p13.1		 benign
NM_001127671.2(LIFR):c.726G>A (p.Lys242=) single nucleotide variant not provided [RCV001481082] Chr5:38511800 [GRCh38]
Chr5:38511902 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.1122-70G>A single nucleotide variant not provided [RCV001592122] Chr5:38506144 [GRCh38]
Chr5:38506246 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.398-56A>G single nucleotide variant not provided [RCV001670423] Chr5:38523638 [GRCh38]
Chr5:38523740 [GRCh37]
Chr5:5p13.1		 benign
NM_001127671.2(LIFR):c.1081T>C (p.Leu361=) single nucleotide variant not provided [RCV001501581] Chr5:38506543 [GRCh38]
Chr5:38506645 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.1291+252A>G single nucleotide variant not provided [RCV001530587] Chr5:38505653 [GRCh38]
Chr5:38505755 [GRCh37]
Chr5:5p13.1		 benign
NM_001127671.2(LIFR):c.2844C>G (p.Ser948=) single nucleotide variant not provided [RCV001461385] Chr5:38482045 [GRCh38]
Chr5:38482147 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.2781C>A (p.Ser927=) single nucleotide variant not provided [RCV001502856] Chr5:38482108 [GRCh38]
Chr5:38482210 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.273T>C (p.Tyr91=) single nucleotide variant not provided [RCV001435725] Chr5:38527279 [GRCh38]
Chr5:38527381 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.2082T>C (p.Gly694=) single nucleotide variant not provided [RCV001417042] Chr5:38490275 [GRCh38]
Chr5:38490377 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.1418del (p.Ser473fs) deletion not provided [RCV001385010] Chr5:38503995 [GRCh38]
Chr5:38504097 [GRCh37]
Chr5:5p13.1		 pathogenic
NM_001127671.2(LIFR):c.257+10A>T single nucleotide variant not provided [RCV001478280] Chr5:38528716 [GRCh38]
Chr5:38528818 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.366A>T (p.Thr122=) single nucleotide variant not provided [RCV001439724] Chr5:38527186 [GRCh38]
Chr5:38527288 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.774T>C (p.Asp258=) single nucleotide variant LIFR-related disorder [RCV003940886]|Stuve-Wiedemann syndrome [RCV001826351]|not provided [RCV001509951] Chr5:38510681 [GRCh38]
Chr5:38510783 [GRCh37]
Chr5:5p13.1		 benign|likely benign
NM_001127671.2(LIFR):c.1971C>T (p.Tyr657=) single nucleotide variant not provided [RCV001468654] Chr5:38493700 [GRCh38]
Chr5:38493802 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.736+9A>G single nucleotide variant not provided [RCV001488008] Chr5:38511781 [GRCh38]
Chr5:38511883 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.143-37GT[6] microsatellite not provided [RCV001491196] Chr5:38528850..38528865 [GRCh38]
Chr5:38528952..38528967 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.93A>G (p.Ser31=) single nucleotide variant not provided [RCV001454018] Chr5:38530555 [GRCh38]
Chr5:38530657 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.723G>A (p.Val241=) single nucleotide variant not provided [RCV001455620] Chr5:38511803 [GRCh38]
Chr5:38511905 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.1601-3del deletion not provided [RCV001520995] Chr5:38499586 [GRCh38]
Chr5:38499688 [GRCh37]
Chr5:5p13.1		 benign
NM_001127671.2(LIFR):c.465A>G (p.Leu155=) single nucleotide variant Connective tissue disorder [RCV002276742]|not provided [RCV001458776] Chr5:38523515 [GRCh38]
Chr5:38523617 [GRCh37]
Chr5:5p13.1		 likely benign|uncertain significance
NM_001127671.2(LIFR):c.864C>G (p.Pro288=) single nucleotide variant not provided [RCV001496350] Chr5:38510591 [GRCh38]
Chr5:38510693 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.1926G>A (p.Gly642=) single nucleotide variant not provided [RCV001465901] Chr5:38493745 [GRCh38]
Chr5:38493847 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.143-37GT[16] microsatellite Connective tissue disorder [RCV002276750]|LIFR-related disorder [RCV003980474]|Stuve-Wiedemann syndrome [RCV001810049]|Stüve-Wiedemann syndrome 1 [RCV002501755]|not provided [RCV001510701] Chr5:38528849..38528850 [GRCh38]
Chr5:38528951..38528952 [GRCh37]
Chr5:5p13.1		 benign
NM_001127671.2(LIFR):c.2036C>G (p.Ser679Ter) single nucleotide variant not provided [RCV001388720] Chr5:38493635 [GRCh38]
Chr5:38493737 [GRCh37]
Chr5:5p13.1		 pathogenic
NM_001127671.2(LIFR):c.1011A>G (p.Gln337=) single nucleotide variant not provided [RCV001502642] Chr5:38506613 [GRCh38]
Chr5:38506715 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.1672-6T>C single nucleotide variant not provided [RCV001505102] Chr5:38496601 [GRCh38]
Chr5:38496703 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.1121+10A>G single nucleotide variant not provided [RCV001451846] Chr5:38506493 [GRCh38]
Chr5:38506595 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.1671+10T>C single nucleotide variant not provided [RCV001406582] Chr5:38499503 [GRCh38]
Chr5:38499605 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.143-37GT[10] microsatellite not provided [RCV001517280] Chr5:38528850..38528857 [GRCh38]
Chr5:38528952..38528959 [GRCh37]
Chr5:5p13.1		 benign
NM_001127671.2(LIFR):c.2425C>T (p.Leu809=) single nucleotide variant not provided [RCV001436606] Chr5:38485891 [GRCh38]
Chr5:38485993 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.1252C>T (p.Arg418Ter) single nucleotide variant Stuve-Wiedemann syndrome [RCV001831386]|not provided [RCV001383890] Chr5:38505944 [GRCh38]
Chr5:38506046 [GRCh37]
Chr5:5p13.1		 pathogenic
NM_001127671.2(LIFR):c.2168-1G>A single nucleotide variant Stuve-Wiedemann syndrome [RCV001831357]|not provided [RCV001378659] Chr5:38489246 [GRCh38]
Chr5:38489348 [GRCh37]
Chr5:5p13.1		 likely pathogenic
NM_001127671.2(LIFR):c.258-4A>G single nucleotide variant not provided [RCV001417692] Chr5:38527298 [GRCh38]
Chr5:38527400 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.1866G>A (p.Ala622=) single nucleotide variant not provided [RCV001419595] Chr5:38496401 [GRCh38]
Chr5:38496503 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.1182A>G (p.Gln394=) single nucleotide variant not provided [RCV001432625] Chr5:38506014 [GRCh38]
Chr5:38506116 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.2307C>T (p.Asp769=) single nucleotide variant not provided [RCV001466411] Chr5:38489106 [GRCh38]
Chr5:38489208 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.1371C>G (p.Gly457=) single nucleotide variant not provided [RCV001400412] Chr5:38504042 [GRCh38]
Chr5:38504144 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.1977T>A (p.Ile659=) single nucleotide variant not provided [RCV001461906] Chr5:38493694 [GRCh38]
Chr5:38493796 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.1311T>C (p.Thr437=) single nucleotide variant not provided [RCV001418196] Chr5:38504102 [GRCh38]
Chr5:38504204 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.207A>G (p.Ala69=) single nucleotide variant not provided [RCV001393880] Chr5:38528776 [GRCh38]
Chr5:38528878 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.345A>G (p.Leu115=) single nucleotide variant not provided [RCV001418545] Chr5:38527207 [GRCh38]
Chr5:38527309 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.366A>G (p.Thr122=) single nucleotide variant not provided [RCV001504155] Chr5:38527186 [GRCh38]
Chr5:38527288 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.2053_2054del (p.Val685fs) deletion not provided [RCV001384806] Chr5:38493617..38493618 [GRCh38]
Chr5:38493719..38493720 [GRCh37]
Chr5:5p13.1		 pathogenic
NM_001127671.2(LIFR):c.2091T>C (p.Tyr697=) single nucleotide variant not provided [RCV001402607] Chr5:38490266 [GRCh38]
Chr5:38490368 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.2498-7G>C single nucleotide variant not provided [RCV001435655] Chr5:38484875 [GRCh38]
Chr5:38484977 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.2628A>G (p.Pro876=) single nucleotide variant not provided [RCV001458021] Chr5:38482631 [GRCh38]
Chr5:38482733 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.143-9C>G single nucleotide variant not provided [RCV003108605] Chr5:38528849 [GRCh38]
Chr5:38528951 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.143-15_143-6dup duplication not provided [RCV003104342] Chr5:38528845..38528846 [GRCh38]
Chr5:38528947..38528948 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.1517C>T (p.Thr506Ile) single nucleotide variant not provided [RCV001757440] Chr5:38502720 [GRCh38]
Chr5:38502822 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.413C>G (p.Thr138Ser) single nucleotide variant not provided [RCV001775499] Chr5:38523567 [GRCh38]
Chr5:38523669 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.2338C>T (p.Arg780Cys) single nucleotide variant not provided [RCV001768350] Chr5:38485978 [GRCh38]
Chr5:38486080 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.210del (p.Ser71fs) deletion Stüve-Wiedemann syndrome 1 [RCV003147672] Chr5:38528773 [GRCh38]
Chr5:38528875 [GRCh37]
Chr5:5p13.1		 likely pathogenic
NM_001127671.2(LIFR):c.737-320G>T single nucleotide variant not provided [RCV001776984] Chr5:38511038 [GRCh38]
Chr5:38511140 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.728A>G (p.Asn243Ser) single nucleotide variant not provided [RCV001757330] Chr5:38511798 [GRCh38]
Chr5:38511900 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.1622del (p.Thr541fs) deletion not provided [RCV001896384] Chr5:38499562 [GRCh38]
Chr5:38499664 [GRCh37]
Chr5:5p13.1		 pathogenic
NM_001127671.2(LIFR):c.325G>T (p.Glu109Ter) single nucleotide variant Stüve-Wiedemann syndrome 1 [RCV002490068]|not provided [RCV001874823] Chr5:38527227 [GRCh38]
Chr5:38527329 [GRCh37]
Chr5:5p13.1		 pathogenic
NM_001127671.2(LIFR):c.1780G>A (p.Ala594Thr) single nucleotide variant not provided [RCV001950667] Chr5:38496487 [GRCh38]
Chr5:38496589 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.1280T>A (p.Ile427Lys) single nucleotide variant not provided [RCV001896204] Chr5:38505916 [GRCh38]
Chr5:38506018 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.143-2del deletion not provided [RCV002008771] Chr5:38528842 [GRCh38]
Chr5:38528944 [GRCh37]
Chr5:5p13.1		 likely pathogenic
NM_001127671.2(LIFR):c.1721C>T (p.Ser574Leu) single nucleotide variant not provided [RCV001873965] Chr5:38496546 [GRCh38]
Chr5:38496648 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.1471del (p.Ser491fs) deletion not provided [RCV001864033] Chr5:38502766 [GRCh38]
Chr5:38502868 [GRCh37]
Chr5:5p13.1		 pathogenic
GRCh37/hg19 5p14.1-11(chr5:26382110-46389339) copy number gain not specified [RCV002053485] Chr5:26382110..46389339 [GRCh37]
Chr5:5p14.1-11		 pathogenic
NM_001127671.2(LIFR):c.2099dup (p.Leu701fs) duplication not provided [RCV001910157] Chr5:38490257..38490258 [GRCh38]
Chr5:38490359..38490360 [GRCh37]
Chr5:5p13.1		 pathogenic
NM_001127671.2(LIFR):c.2377C>G (p.Gln793Glu) single nucleotide variant not provided [RCV002039535] Chr5:38485939 [GRCh38]
Chr5:38486041 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.1260A>G (p.Gln420=) single nucleotide variant LIFR-related disorder [RCV003911086]|not provided [RCV001911695] Chr5:38505936 [GRCh38]
Chr5:38506038 [GRCh37]
Chr5:5p13.1		 likely benign|uncertain significance
NM_001127671.2(LIFR):c.425T>C (p.Leu142Ser) single nucleotide variant not provided [RCV002006781] Chr5:38523555 [GRCh38]
Chr5:38523657 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.1997G>A (p.Arg666Gln) single nucleotide variant not provided [RCV002042994] Chr5:38493674 [GRCh38]
Chr5:38493776 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.1886A>G (p.Asp629Gly) single nucleotide variant not provided [RCV001964614] Chr5:38493785 [GRCh38]
Chr5:38493887 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.23T>A (p.Leu8Ter) single nucleotide variant not provided [RCV001895226] Chr5:38530625 [GRCh38]
Chr5:38530727 [GRCh37]
Chr5:5p13.1		 pathogenic
NM_001127671.2(LIFR):c.607_621del (p.Trp203_Ser207del) deletion not provided [RCV001965813] Chr5:38511905..38511919 [GRCh38]
Chr5:38512007..38512021 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.2351_2357del (p.Lys784fs) deletion not provided [RCV002007539] Chr5:38485959..38485965 [GRCh38]
Chr5:38486061..38486067 [GRCh37]
Chr5:5p13.1		 pathogenic
NM_001127671.2(LIFR):c.860G>T (p.Cys287Phe) single nucleotide variant not provided [RCV002043962] Chr5:38510595 [GRCh38]
Chr5:38510697 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.205G>A (p.Ala69Thr) single nucleotide variant not provided [RCV002020502] Chr5:38528778 [GRCh38]
Chr5:38528880 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.569A>C (p.His190Pro) single nucleotide variant not provided [RCV002021938] Chr5:38511957 [GRCh38]
Chr5:38512059 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.737-1G>T single nucleotide variant not provided [RCV001969645] Chr5:38510719 [GRCh38]
Chr5:38510821 [GRCh37]
Chr5:5p13.1		 likely pathogenic
NM_001127671.2(LIFR):c.1429_1430insT (p.Gln477fs) insertion not provided [RCV001949337] Chr5:38503983..38503984 [GRCh38]
Chr5:38504085..38504086 [GRCh37]
Chr5:5p13.1		 pathogenic
NM_001127671.2(LIFR):c.962A>G (p.Asn321Ser) single nucleotide variant Inborn genetic diseases [RCV002563361]|not provided [RCV001949032] Chr5:38510493 [GRCh38]
Chr5:38510595 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.1687G>T (p.Glu563Ter) single nucleotide variant not provided [RCV002007332] Chr5:38496580 [GRCh38]
Chr5:38496682 [GRCh37]
Chr5:5p13.1		 pathogenic
NM_001127671.2(LIFR):c.1983G>A (p.Trp661Ter) single nucleotide variant not provided [RCV001946588] Chr5:38493688 [GRCh38]
Chr5:38493790 [GRCh37]
Chr5:5p13.1		 pathogenic
NM_001127671.2(LIFR):c.2683C>T (p.Leu895Phe) single nucleotide variant not provided [RCV001945241] Chr5:38482206 [GRCh38]
Chr5:38482308 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.1319A>G (p.Lys440Arg) single nucleotide variant not provided [RCV001992641] Chr5:38504094 [GRCh38]
Chr5:38504196 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.1493A>G (p.Lys498Arg) single nucleotide variant not provided [RCV001999646] Chr5:38502744 [GRCh38]
Chr5:38502846 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.1004C>T (p.Thr335Ile) single nucleotide variant not provided [RCV001906647] Chr5:38506620 [GRCh38]
Chr5:38506722 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.2387_2388del (p.Leu796fs) deletion not provided [RCV001972365] Chr5:38485928..38485929 [GRCh38]
Chr5:38486030..38486031 [GRCh37]
Chr5:5p13.1		 pathogenic
NM_001127671.2(LIFR):c.2497+1G>T single nucleotide variant not provided [RCV002015634] Chr5:38485818 [GRCh38]
Chr5:38485920 [GRCh37]
Chr5:5p13.1		 likely pathogenic
NM_001127671.2(LIFR):c.2464G>T (p.Glu822Ter) single nucleotide variant not provided [RCV001957723] Chr5:38485852 [GRCh38]
Chr5:38485954 [GRCh37]
Chr5:5p13.1		 pathogenic
NM_001127671.2(LIFR):c.410A>G (p.Asp137Gly) single nucleotide variant Inborn genetic diseases [RCV004039595]|not provided [RCV001880510] Chr5:38523570 [GRCh38]
Chr5:38523672 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.1199T>C (p.Leu400Pro) single nucleotide variant not provided [RCV001867585] Chr5:38505997 [GRCh38]
Chr5:38506099 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.1708T>A (p.Ser570Thr) single nucleotide variant not provided [RCV001864910] Chr5:38496559 [GRCh38]
Chr5:38496661 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.1781_1782dup (p.Glu595fs) duplication not provided [RCV001953513] Chr5:38496484..38496485 [GRCh38]
Chr5:38496586..38496587 [GRCh37]
Chr5:5p13.1		 pathogenic
NM_001127671.2(LIFR):c.1919G>A (p.Gly640Glu) single nucleotide variant not provided [RCV001915751] Chr5:38493752 [GRCh38]
Chr5:38493854 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.1601-1G>A single nucleotide variant not provided [RCV001995926] Chr5:38499584 [GRCh38]
Chr5:38499686 [GRCh37]
Chr5:5p13.1		 likely pathogenic
NM_001127671.2(LIFR):c.1806C>A (p.Asp602Glu) single nucleotide variant not provided [RCV001921082] Chr5:38496461 [GRCh38]
Chr5:38496563 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.3231_3232del (p.Ser1077_Pro1078insTer) microsatellite not provided [RCV001870180]|not specified [RCV004587225] Chr5:38481657..38481658 [GRCh38]
Chr5:38481759..38481760 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.3131C>T (p.Ser1044Phe) single nucleotide variant not provided [RCV001901881] Chr5:38481758 [GRCh38]
Chr5:38481860 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.1578ACA[1] (p.Gln527del) microsatellite not provided [RCV001939815] Chr5:38502654..38502656 [GRCh38]
Chr5:38502756..38502758 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.3197G>A (p.Arg1066Gln) single nucleotide variant not provided [RCV002048339] Chr5:38481692 [GRCh38]
Chr5:38481794 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.2307C>A (p.Asp769Glu) single nucleotide variant not provided [RCV001866486] Chr5:38489106 [GRCh38]
Chr5:38489208 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.3245G>A (p.Gly1082Glu) single nucleotide variant Stüve-Wiedemann syndrome 1 [RCV002503599]|not provided [RCV001935838] Chr5:38481644 [GRCh38]
Chr5:38481746 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.173_176del (p.Asn58fs) deletion not provided [RCV001960748] Chr5:38528807..38528810 [GRCh38]
Chr5:38528909..38528912 [GRCh37]
Chr5:5p13.1		 pathogenic
NM_001127671.2(LIFR):c.2041A>G (p.Ser681Gly) single nucleotide variant not provided [RCV001926168] Chr5:38493630 [GRCh38]
Chr5:38493732 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.1121+8T>C single nucleotide variant not provided [RCV001959182] Chr5:38506495 [GRCh38]
Chr5:38506597 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.143-1G>T single nucleotide variant not provided [RCV001959260] Chr5:38528841 [GRCh38]
Chr5:38528943 [GRCh37]
Chr5:5p13.1		 likely pathogenic
NM_001127671.2(LIFR):c.991+1G>A single nucleotide variant not provided [RCV002018426] Chr5:38510463 [GRCh38]
Chr5:38510565 [GRCh37]
Chr5:5p13.1		 likely pathogenic
NM_001127671.2(LIFR):c.501C>T (p.Arg167=) single nucleotide variant not provided [RCV002019737] Chr5:38523479 [GRCh38]
Chr5:38523581 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.2423A>G (p.His808Arg) single nucleotide variant not provided [RCV001921126] Chr5:38485893 [GRCh38]
Chr5:38485995 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.2548G>T (p.Val850Phe) single nucleotide variant not provided [RCV001935945] Chr5:38484818 [GRCh38]
Chr5:38484920 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.3015G>A (p.Met1005Ile) single nucleotide variant not provided [RCV001902791] Chr5:38481874 [GRCh38]
Chr5:38481976 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.2336-3T>C single nucleotide variant not provided [RCV002015626] Chr5:38485983 [GRCh38]
Chr5:38486085 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.2282T>C (p.Phe761Ser) single nucleotide variant not provided [RCV001877552] Chr5:38489131 [GRCh38]
Chr5:38489233 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.1290A>G (p.Lys430=) single nucleotide variant not provided [RCV002011922] Chr5:38505906 [GRCh38]
Chr5:38506008 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.1475_1482del (p.Tyr492fs) deletion not provided [RCV001975214] Chr5:38502755..38502762 [GRCh38]
Chr5:38502857..38502864 [GRCh37]
Chr5:5p13.1		 pathogenic
NM_001127671.2(LIFR):c.456A>G (p.Thr152=) single nucleotide variant not provided [RCV002208584] Chr5:38523524 [GRCh38]
Chr5:38523626 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.444C>T (p.Phe148=) single nucleotide variant not provided [RCV002086328] Chr5:38523536 [GRCh38]
Chr5:38523638 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.1233T>C (p.Asn411=) single nucleotide variant not provided [RCV002112196] Chr5:38505963 [GRCh38]
Chr5:38506065 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.2310A>C (p.Thr770=) single nucleotide variant not provided [RCV002185194] Chr5:38489103 [GRCh38]
Chr5:38489205 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.1818C>T (p.Ser606=) single nucleotide variant not provided [RCV002147577] Chr5:38496449 [GRCh38]
Chr5:38496551 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.2671-8A>G single nucleotide variant not provided [RCV002111267] Chr5:38482226 [GRCh38]
Chr5:38482328 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.1107C>T (p.Tyr369=) single nucleotide variant not provided [RCV002144685] Chr5:38506517 [GRCh38]
Chr5:38506619 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.1291+9T>A single nucleotide variant not provided [RCV002148697] Chr5:38505896 [GRCh38]
Chr5:38505998 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.2335+16_2335+17delinsTT indel not provided [RCV002085490] Chr5:38489061..38489062 [GRCh38]
Chr5:38489163..38489164 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.321T>C (p.Asp107=) single nucleotide variant not provided [RCV002108679] Chr5:38527231 [GRCh38]
Chr5:38527333 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.2715A>G (p.Pro905=) single nucleotide variant not provided [RCV002126168] Chr5:38482174 [GRCh38]
Chr5:38482276 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.1881A>G (p.Pro627=) single nucleotide variant not provided [RCV002088121] Chr5:38496386 [GRCh38]
Chr5:38496488 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.1121+8T>A single nucleotide variant not provided [RCV002210465] Chr5:38506495 [GRCh38]
Chr5:38506597 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.143-8_143-7del microsatellite not provided [RCV002087345] Chr5:38528847..38528848 [GRCh38]
Chr5:38528949..38528950 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.1311T>A (p.Thr437=) single nucleotide variant not provided [RCV002129967] Chr5:38504102 [GRCh38]
Chr5:38504204 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.459A>G (p.Leu153=) single nucleotide variant not provided [RCV002207019] Chr5:38523521 [GRCh38]
Chr5:38523623 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.948T>C (p.Phe316=) single nucleotide variant not provided [RCV002192507] Chr5:38510507 [GRCh38]
Chr5:38510609 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.2370C>T (p.Asp790=) single nucleotide variant not provided [RCV002085484] Chr5:38485946 [GRCh38]
Chr5:38486048 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.2142C>T (p.Ser714=) single nucleotide variant not provided [RCV002073573] Chr5:38490215 [GRCh38]
Chr5:38490317 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.933A>T (p.Gly311=) single nucleotide variant not provided [RCV002215347] Chr5:38510522 [GRCh38]
Chr5:38510624 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.342T>G (p.Ser114=) single nucleotide variant not provided [RCV002197231] Chr5:38527210 [GRCh38]
Chr5:38527312 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.375C>T (p.Phe125=) single nucleotide variant not provided [RCV002184953] Chr5:38527177 [GRCh38]
Chr5:38527279 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.1122-20_1122-17del deletion not provided [RCV002171902] Chr5:38506091..38506094 [GRCh38]
Chr5:38506193..38506196 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.1719A>G (p.Val573=) single nucleotide variant not provided [RCV002133936] Chr5:38496548 [GRCh38]
Chr5:38496650 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.3114T>C (p.Asn1038=) single nucleotide variant not provided [RCV002114282] Chr5:38481775 [GRCh38]
Chr5:38481877 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.1752T>G (p.Leu584=) single nucleotide variant not provided [RCV002076771] Chr5:38496515 [GRCh38]
Chr5:38496617 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.981T>C (p.Ile327=) single nucleotide variant not provided [RCV002109553] Chr5:38510474 [GRCh38]
Chr5:38510576 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.843G>C (p.Leu281=) single nucleotide variant not provided [RCV002212420] Chr5:38510612 [GRCh38]
Chr5:38510714 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.423C>T (p.Ile141=) single nucleotide variant not provided [RCV002211858] Chr5:38523557 [GRCh38]
Chr5:38523659 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.408A>G (p.Pro136=) single nucleotide variant not provided [RCV002133991] Chr5:38523572 [GRCh38]
Chr5:38523674 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.1911T>G (p.Val637=) single nucleotide variant not provided [RCV002113485] Chr5:38493760 [GRCh38]
Chr5:38493862 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.2335+9A>G single nucleotide variant not provided [RCV002172515] Chr5:38489069 [GRCh38]
Chr5:38489171 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.186G>T (p.Val62=) single nucleotide variant not provided [RCV002117105] Chr5:38528797 [GRCh38]
Chr5:38528899 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.2484G>A (p.Val828=) single nucleotide variant not provided [RCV002078238] Chr5:38485832 [GRCh38]
Chr5:38485934 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.1438-8T>C single nucleotide variant not provided [RCV002078306] Chr5:38502807 [GRCh38]
Chr5:38502909 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.1885+8C>T single nucleotide variant not provided [RCV002152921] Chr5:38496374 [GRCh38]
Chr5:38496476 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.1512A>T (p.Leu504=) single nucleotide variant not provided [RCV002193143] Chr5:38502725 [GRCh38]
Chr5:38502827 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.2682T>C (p.Ala894=) single nucleotide variant not provided [RCV002172306] Chr5:38482207 [GRCh38]
Chr5:38482309 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.18A>G (p.Val6=) single nucleotide variant not provided [RCV002170571] Chr5:38530630 [GRCh38]
Chr5:38530732 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.143-37GT[9] microsatellite not provided [RCV002114008] Chr5:38528850..38528859 [GRCh38]
Chr5:38528952..38528961 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.1292-19_1292-18del deletion not provided [RCV002148050] Chr5:38504139..38504140 [GRCh38]
Chr5:38504241..38504242 [GRCh37]
Chr5:5p13.1		 benign
NM_001127671.2(LIFR):c.2066-9A>G single nucleotide variant not provided [RCV002149763] Chr5:38490300 [GRCh38]
Chr5:38490402 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.108A>G (p.Leu36=) single nucleotide variant not provided [RCV002113098] Chr5:38530540 [GRCh38]
Chr5:38530642 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.2505A>G (p.Gly835=) single nucleotide variant not provided [RCV002173887] Chr5:38484861 [GRCh38]
Chr5:38484963 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.450C>T (p.Thr150=) single nucleotide variant not provided [RCV002180880] Chr5:38523530 [GRCh38]
Chr5:38523632 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.3000C>A (p.Gly1000=) single nucleotide variant not provided [RCV002121250] Chr5:38481889 [GRCh38]
Chr5:38481991 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.1122-6T>C single nucleotide variant not provided [RCV002179335] Chr5:38506080 [GRCh38]
Chr5:38506182 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.1299C>A (p.Pro433=) single nucleotide variant not provided [RCV002141257] Chr5:38504114 [GRCh38]
Chr5:38504216 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.1236T>G (p.Ala412=) single nucleotide variant not provided [RCV002156503] Chr5:38505960 [GRCh38]
Chr5:38506062 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.143-23_143-7del deletion not provided [RCV002120160] Chr5:38528847..38528863 [GRCh38]
Chr5:38528949..38528965 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.529C>T (p.Leu177=) single nucleotide variant not provided [RCV002118560] Chr5:38523451 [GRCh38]
Chr5:38523553 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.2688A>G (p.Lys896=) single nucleotide variant not provided [RCV002217840] Chr5:38482201 [GRCh38]
Chr5:38482303 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.142+19C>A single nucleotide variant not provided [RCV002101340] Chr5:38530487 [GRCh38]
Chr5:38530589 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.1680C>T (p.Pro560=) single nucleotide variant not provided [RCV002160970] Chr5:38496587 [GRCh38]
Chr5:38496689 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.2328A>G (p.Leu776=) single nucleotide variant LIFR-related disorder [RCV003895925]|not provided [RCV002142705] Chr5:38489085 [GRCh38]
Chr5:38489187 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.1885+8C>G single nucleotide variant not provided [RCV002139037] Chr5:38496374 [GRCh38]
Chr5:38496476 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.2336-4dup duplication not provided [RCV002157920] Chr5:38485983..38485984 [GRCh38]
Chr5:38486085..38486086 [GRCh37]
Chr5:5p13.1		 benign
NM_001127671.2(LIFR):c.2532G>C (p.Val844=) single nucleotide variant not provided [RCV002184799] Chr5:38484834 [GRCh38]
Chr5:38484936 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.3180A>G (p.Pro1060=) single nucleotide variant not provided [RCV002163563] Chr5:38481709 [GRCh38]
Chr5:38481811 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.2376C>T (p.Ser792=) single nucleotide variant not provided [RCV002216923] Chr5:38485940 [GRCh38]
Chr5:38486042 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.562-8A>G single nucleotide variant not provided [RCV002204046] Chr5:38511972 [GRCh38]
Chr5:38512074 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.720T>A (p.Pro240=) single nucleotide variant not provided [RCV002178255] Chr5:38511806 [GRCh38]
Chr5:38511908 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.398-10C>G single nucleotide variant not provided [RCV002101219] Chr5:38523592 [GRCh38]
Chr5:38523694 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.666C>T (p.Cys222=) single nucleotide variant not provided [RCV002220078] Chr5:38511860 [GRCh38]
Chr5:38511962 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.798C>T (p.Asp266=) single nucleotide variant not provided [RCV002220421] Chr5:38510657 [GRCh38]
Chr5:38510759 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.1600+17A>T single nucleotide variant not provided [RCV002144389] Chr5:38502620 [GRCh38]
Chr5:38502722 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.143-11_143-8del deletion not provided [RCV002121685] Chr5:38528848..38528851 [GRCh38]
Chr5:38528950..38528953 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.462C>T (p.Tyr154=) single nucleotide variant not provided [RCV002179516] Chr5:38523518 [GRCh38]
Chr5:38523620 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.1292-10A>G single nucleotide variant not provided [RCV002102304] Chr5:38504131 [GRCh38]
Chr5:38504233 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.3108A>G (p.Thr1036=) single nucleotide variant not provided [RCV002198776] Chr5:38481781 [GRCh38]
Chr5:38481883 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.2133A>G (p.Leu711=) single nucleotide variant not provided [RCV002179878] Chr5:38490224 [GRCh38]
Chr5:38490326 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.3252G>A (p.Gly1084=) single nucleotide variant not provided [RCV002099124] Chr5:38481637 [GRCh38]
Chr5:38481739 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.2034C>T (p.Pro678=) single nucleotide variant not provided [RCV002162244] Chr5:38493637 [GRCh38]
Chr5:38493739 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.675C>T (p.Asp225=) single nucleotide variant not provided [RCV002220044] Chr5:38511851 [GRCh38]
Chr5:38511953 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.1263A>G (p.Ser421=) single nucleotide variant not provided [RCV002081229] Chr5:38505933 [GRCh38]
Chr5:38506035 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.143-37GT[8] microsatellite not provided [RCV002163464] Chr5:38528850..38528861 [GRCh38]
Chr5:38528952..38528963 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.2985T>C (p.Pro995=) single nucleotide variant not provided [RCV002137206] Chr5:38481904 [GRCh38]
Chr5:38482006 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.736+18G>T single nucleotide variant not provided [RCV002216558] Chr5:38511772 [GRCh38]
Chr5:38511874 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.1671+8T>C single nucleotide variant not provided [RCV002135614] Chr5:38499505 [GRCh38]
Chr5:38499607 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.562-6T>C single nucleotide variant not provided [RCV002203164] Chr5:38511970 [GRCh38]
Chr5:38512072 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.1886-9T>C single nucleotide variant not provided [RCV002203586] Chr5:38493794 [GRCh38]
Chr5:38493896 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.1707T>G (p.Leu569=) single nucleotide variant not provided [RCV002183338] Chr5:38496560 [GRCh38]
Chr5:38496662 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.2904G>C (p.Gly968=) single nucleotide variant not provided [RCV002137655] Chr5:38481985 [GRCh38]
Chr5:38482087 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.2346C>T (p.Asp782=) single nucleotide variant not provided [RCV002183695] Chr5:38485970 [GRCh38]
Chr5:38486072 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.1083G>A (p.Leu361=) single nucleotide variant not provided [RCV002141251] Chr5:38506541 [GRCh38]
Chr5:38506643 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.540G>A (p.Glu180=) single nucleotide variant not provided [RCV002183825] Chr5:38523440 [GRCh38]
Chr5:38523542 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.143-19_143-7del deletion not provided [RCV002100971] Chr5:38528847..38528859 [GRCh38]
Chr5:38528949..38528961 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.1251T>C (p.Gly417=) single nucleotide variant not provided [RCV002182022] Chr5:38505945 [GRCh38]
Chr5:38506047 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.2335+13A>C single nucleotide variant not provided [RCV002160434] Chr5:38489065 [GRCh38]
Chr5:38489167 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.1291+11C>T single nucleotide variant not provided [RCV002204718] Chr5:38505894 [GRCh38]
Chr5:38505996 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.3105T>C (p.Asn1035=) single nucleotide variant not provided [RCV002184494] Chr5:38481784 [GRCh38]
Chr5:38481886 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.1714A>G (p.Asn572Asp) single nucleotide variant not provided [RCV003110883] Chr5:38496553 [GRCh38]
Chr5:38496655 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.142+9A>G single nucleotide variant not provided [RCV003119019] Chr5:38530497 [GRCh38]
Chr5:38530599 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.2807G>A (p.Arg936His) single nucleotide variant Stüve-Wiedemann syndrome 1 [RCV002227359] Chr5:38482082 [GRCh38]
Chr5:38482184 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.703_704del (p.Trp235fs) deletion Stüve-Wiedemann syndrome 1 [RCV003152906] Chr5:38511822..38511823 [GRCh38]
Chr5:38511924..38511925 [GRCh37]
Chr5:5p13.1		 pathogenic
NM_001127671.2(LIFR):c.1136_1137del (p.Tyr379fs) microsatellite Stüve-Wiedemann syndrome 1 [RCV003234960] Chr5:38506059..38506060 [GRCh38]
Chr5:38506161..38506162 [GRCh37]
Chr5:5p13.1		 likely pathogenic
NM_001127671.2(LIFR):c.1547T>C (p.Phe516Ser) single nucleotide variant Connective tissue disorder [RCV002278774] Chr5:38502690 [GRCh38]
Chr5:38502792 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.3086G>A (p.Arg1029Lys) single nucleotide variant Connective tissue disorder [RCV002278778]|not provided [RCV003096283] Chr5:38481803 [GRCh38]
Chr5:38481905 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.1960A>G (p.Thr654Ala) single nucleotide variant Connective tissue disorder [RCV002278775] Chr5:38493711 [GRCh38]
Chr5:38493813 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.2497+1G>A single nucleotide variant Stüve-Wiedemann syndrome 1 [RCV002262180]|not provided [RCV003095954] Chr5:38485818 [GRCh38]
Chr5:38485920 [GRCh37]
Chr5:5p13.1		 pathogenic|likely pathogenic
NM_001127671.2(LIFR):c.148C>T (p.Pro50Ser) single nucleotide variant Connective tissue disorder [RCV002278773] Chr5:38528835 [GRCh38]
Chr5:38528937 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.1984T>C (p.Cys662Arg) single nucleotide variant Connective tissue disorder [RCV002278776] Chr5:38493687 [GRCh38]
Chr5:38493789 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.46G>A (p.Asp16Asn) single nucleotide variant Connective tissue disorder [RCV002278780]|not provided [RCV003096284] Chr5:38530602 [GRCh38]
Chr5:38530704 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.2695G>A (p.Glu899Lys) single nucleotide variant Connective tissue disorder [RCV002278777] Chr5:38482194 [GRCh38]
Chr5:38482296 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.14A>G (p.Tyr5Cys) single nucleotide variant not provided [RCV002287942] Chr5:38530634 [GRCh38]
Chr5:38530736 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.1265C>T (p.Thr422Ile) single nucleotide variant Connective tissue disorder [RCV002278771] Chr5:38505931 [GRCh38]
Chr5:38506033 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.2462C>G (p.Pro821Arg) single nucleotide variant Connective tissue disorder [RCV002278839]|not provided [RCV003096291] Chr5:38485854 [GRCh38]
Chr5:38485956 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.1105dup (p.Tyr369fs) duplication Stüve-Wiedemann syndrome 1 [RCV002282591] Chr5:38506518..38506519 [GRCh38]
Chr5:38506620..38506621 [GRCh37]
Chr5:5p13.1		 likely pathogenic
NM_001127671.2(LIFR):c.47A>G (p.Asp16Gly) single nucleotide variant Connective tissue disorder [RCV002278781] Chr5:38530601 [GRCh38]
Chr5:38530703 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.2009G>A (p.Cys670Tyr) single nucleotide variant not provided [RCV002750105] Chr5:38493662 [GRCh38]
Chr5:38493764 [GRCh37]
Chr5:5p13.1		 uncertain significance
GRCh37/hg19 5p13.3-11(chr5:29348753-46389339)x3 copy number gain not provided [RCV002474514] Chr5:29348753..46389339 [GRCh37]
Chr5:5p13.3-11		 pathogenic
NM_001127671.2(LIFR):c.143-37GT[23] microsatellite not provided [RCV002727240] Chr5:38528849..38528850 [GRCh38]
Chr5:38528951..38528952 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.711C>T (p.Asp237=) single nucleotide variant not provided [RCV002616092] Chr5:38511815 [GRCh38]
Chr5:38511917 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.2725G>A (p.Glu909Lys) single nucleotide variant Inborn genetic diseases [RCV002817626] Chr5:38482164 [GRCh38]
Chr5:38482266 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.1886-4G>C single nucleotide variant not provided [RCV002967647] Chr5:38493789 [GRCh38]
Chr5:38493891 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.2223A>G (p.Leu741=) single nucleotide variant not provided [RCV002815363] Chr5:38489190 [GRCh38]
Chr5:38489292 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.1600+9A>G single nucleotide variant not provided [RCV002775918] Chr5:38502628 [GRCh38]
Chr5:38502730 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.1491C>G (p.Asp497Glu) single nucleotide variant not provided [RCV003073585] Chr5:38502746 [GRCh38]
Chr5:38502848 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.1388A>G (p.Asn463Ser) single nucleotide variant not provided [RCV002727175] Chr5:38504025 [GRCh38]
Chr5:38504127 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.883dup (p.Glu295fs) duplication not provided [RCV002685657] Chr5:38510571..38510572 [GRCh38]
Chr5:38510673..38510674 [GRCh37]
Chr5:5p13.1		 pathogenic
NM_001127671.2(LIFR):c.2922C>T (p.Tyr974=) single nucleotide variant not provided [RCV002972304] Chr5:38481967 [GRCh38]
Chr5:38482069 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.2106T>C (p.Tyr702=) single nucleotide variant not provided [RCV002731216] Chr5:38490251 [GRCh38]
Chr5:38490353 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.1507dup (p.Thr503fs) duplication not provided [RCV002996585] Chr5:38502729..38502730 [GRCh38]
Chr5:38502831..38502832 [GRCh37]
Chr5:5p13.1		 pathogenic
NM_001127671.2(LIFR):c.1898T>C (p.Ile633Thr) single nucleotide variant not provided [RCV002815389] Chr5:38493773 [GRCh38]
Chr5:38493875 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.1920A>C (p.Gly640=) single nucleotide variant not provided [RCV003017495] Chr5:38493751 [GRCh38]
Chr5:38493853 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.414T>A (p.Thr138=) single nucleotide variant not provided [RCV002880625] Chr5:38523566 [GRCh38]
Chr5:38523668 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.3223G>A (p.Glu1075Lys) single nucleotide variant Inborn genetic diseases [RCV002883600] Chr5:38481666 [GRCh38]
Chr5:38481768 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.1819G>C (p.Val607Leu) single nucleotide variant not provided [RCV002837778] Chr5:38496448 [GRCh38]
Chr5:38496550 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.397+20_397+23del deletion not provided [RCV003076682] Chr5:38527132..38527135 [GRCh38]
Chr5:38527234..38527237 [GRCh37]
Chr5:5p13.1		 likely benign
GRCh37/hg19 5p13.2-13.1(chr5:38262592-38532429)x3 copy number gain not provided [RCV002475605] Chr5:38262592..38532429 [GRCh37]
Chr5:5p13.2-13.1		 uncertain significance
NM_001127671.2(LIFR):c.1563A>G (p.Lys521=) single nucleotide variant not provided [RCV003013734] Chr5:38502674 [GRCh38]
Chr5:38502776 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.737-2A>G single nucleotide variant not provided [RCV002880466] Chr5:38510720 [GRCh38]
Chr5:38510822 [GRCh37]
Chr5:5p13.1		 likely pathogenic
NM_001127671.2(LIFR):c.907A>G (p.Asn303Asp) single nucleotide variant not provided [RCV002967790] Chr5:38510548 [GRCh38]
Chr5:38510650 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.1162C>T (p.Pro388Ser) single nucleotide variant not provided [RCV003075117] Chr5:38506034 [GRCh38]
Chr5:38506136 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.2065+8G>A single nucleotide variant not provided [RCV002617700] Chr5:38493598 [GRCh38]
Chr5:38493700 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.594T>C (p.Asp198=) single nucleotide variant not provided [RCV002907690] Chr5:38511932 [GRCh38]
Chr5:38512034 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.1654T>G (p.Leu552Val) single nucleotide variant Inborn genetic diseases [RCV002778039] Chr5:38499530 [GRCh38]
Chr5:38499632 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.542del (p.Ser181fs) deletion not provided [RCV003017458] Chr5:38523438 [GRCh38]
Chr5:38523540 [GRCh37]
Chr5:5p13.1		 pathogenic
NM_001127671.2(LIFR):c.1337C>G (p.Ser446Ter) single nucleotide variant not provided [RCV002755993] Chr5:38504076 [GRCh38]
Chr5:38504178 [GRCh37]
Chr5:5p13.1		 pathogenic
NM_001127671.2(LIFR):c.969T>C (p.Phe323=) single nucleotide variant not provided [RCV002726244] Chr5:38510486 [GRCh38]
Chr5:38510588 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.963C>T (p.Asn321=) single nucleotide variant not provided [RCV002842560] Chr5:38510492 [GRCh38]
Chr5:38510594 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.2137C>T (p.Arg713Cys) single nucleotide variant Inborn genetic diseases [RCV004071919]|not provided [RCV003075745] Chr5:38490220 [GRCh38]
Chr5:38490322 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.1298C>T (p.Pro433Leu) single nucleotide variant not provided [RCV002947179] Chr5:38504115 [GRCh38]
Chr5:38504217 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.193T>C (p.Cys65Arg) single nucleotide variant Inborn genetic diseases [RCV002882453] Chr5:38528790 [GRCh38]
Chr5:38528892 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.1103G>T (p.Ser368Ile) single nucleotide variant Inborn genetic diseases [RCV002733944] Chr5:38506521 [GRCh38]
Chr5:38506623 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.334A>G (p.Ile112Val) single nucleotide variant not provided [RCV002614823] Chr5:38527218 [GRCh38]
Chr5:38527320 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.1842C>T (p.Gly614=) single nucleotide variant not provided [RCV002926702] Chr5:38496425 [GRCh38]
Chr5:38496527 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.1953C>T (p.Pro651=) single nucleotide variant not provided [RCV002846406] Chr5:38493718 [GRCh38]
Chr5:38493820 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.2253A>G (p.Glu751=) single nucleotide variant not provided [RCV002889138] Chr5:38489160 [GRCh38]
Chr5:38489262 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.258-10C>G single nucleotide variant not provided [RCV003021372] Chr5:38527304 [GRCh38]
Chr5:38527406 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.2335+12G>C single nucleotide variant not provided [RCV002640643] Chr5:38489066 [GRCh38]
Chr5:38489168 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.328A>G (p.Ile110Val) single nucleotide variant Inborn genetic diseases [RCV004068034]|not provided [RCV002953695] Chr5:38527224 [GRCh38]
Chr5:38527326 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.3243T>C (p.Asn1081=) single nucleotide variant not provided [RCV002889809] Chr5:38481646 [GRCh38]
Chr5:38481748 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.142+8C>T single nucleotide variant not provided [RCV002800486] Chr5:38530498 [GRCh38]
Chr5:38530600 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.3033T>C (p.Ser1011=) single nucleotide variant LIFR-related disorder [RCV003898436]|not provided [RCV002591353] Chr5:38481856 [GRCh38]
Chr5:38481958 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.579T>C (p.Thr193=) single nucleotide variant not provided [RCV002825167] Chr5:38511947 [GRCh38]
Chr5:38512049 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.1229T>G (p.Leu410Trp) single nucleotide variant not provided [RCV003020637] Chr5:38505967 [GRCh38]
Chr5:38506069 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.184G>A (p.Val62Met) single nucleotide variant not provided [RCV003039192] Chr5:38528799 [GRCh38]
Chr5:38528901 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.1646del (p.Gly549fs) deletion not provided [RCV002623118] Chr5:38499538 [GRCh38]
Chr5:38499640 [GRCh37]
Chr5:5p13.1		 pathogenic
NM_001127671.2(LIFR):c.2066-20C>T single nucleotide variant not provided [RCV003078348] Chr5:38490311 [GRCh38]
Chr5:38490413 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.1457G>T (p.Gly486Val) single nucleotide variant Inborn genetic diseases [RCV002868314] Chr5:38502780 [GRCh38]
Chr5:38502882 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.612T>C (p.Ser204=) single nucleotide variant not provided [RCV002735465] Chr5:38511914 [GRCh38]
Chr5:38512016 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.626T>A (p.Met209Lys) single nucleotide variant Inborn genetic diseases [RCV002757028] Chr5:38511900 [GRCh38]
Chr5:38512002 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.1093C>T (p.Arg365Cys) single nucleotide variant Inborn genetic diseases [RCV002822863] Chr5:38506531 [GRCh38]
Chr5:38506633 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.217A>G (p.Thr73Ala) single nucleotide variant Inborn genetic diseases [RCV002886854] Chr5:38528766 [GRCh38]
Chr5:38528868 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.2759T>C (p.Ile920Thr) single nucleotide variant not provided [RCV002620340] Chr5:38482130 [GRCh38]
Chr5:38482232 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.788T>A (p.Val263Glu) single nucleotide variant Inborn genetic diseases [RCV002619412]|not provided [RCV002602975] Chr5:38510667 [GRCh38]
Chr5:38510769 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.561+1del deletion not provided [RCV002867285] Chr5:38523418 [GRCh38]
Chr5:38523520 [GRCh37]
Chr5:5p13.1		 likely pathogenic
NM_001127671.2(LIFR):c.2427G>A (p.Leu809=) single nucleotide variant not provided [RCV003036416] Chr5:38485889 [GRCh38]
Chr5:38485991 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.1302del (p.His434fs) deletion not provided [RCV002695218] Chr5:38504111 [GRCh38]
Chr5:38504213 [GRCh37]
Chr5:5p13.1		 pathogenic
NM_001127671.2(LIFR):c.1994dup (p.Arg666fs) duplication not provided [RCV002867815] Chr5:38493676..38493677 [GRCh38]
Chr5:38493778..38493779 [GRCh37]
Chr5:5p13.1		 pathogenic
NM_001127671.2(LIFR):c.1437+10T>C single nucleotide variant not provided [RCV003053793] Chr5:38503966 [GRCh38]
Chr5:38504068 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.2339G>A (p.Arg780His) single nucleotide variant Inborn genetic diseases [RCV002845854] Chr5:38485977 [GRCh38]
Chr5:38486079 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.2671-7T>C single nucleotide variant not provided [RCV002846499] Chr5:38482225 [GRCh38]
Chr5:38482327 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.1291+2T>C single nucleotide variant not provided [RCV003021367] Chr5:38505903 [GRCh38]
Chr5:38506005 [GRCh37]
Chr5:5p13.1		 likely pathogenic
NM_001127671.2(LIFR):c.1599C>A (p.Ala533=) single nucleotide variant not provided [RCV002999710] Chr5:38502638 [GRCh38]
Chr5:38502740 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.992-7_992-6del deletion not provided [RCV002909480] Chr5:38506638..38506639 [GRCh38]
Chr5:38506740..38506741 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.2741G>A (p.Arg914Gln) single nucleotide variant not provided [RCV002638326] Chr5:38482148 [GRCh38]
Chr5:38482250 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.2744C>T (p.Ser915Leu) single nucleotide variant not provided [RCV002780563] Chr5:38482145 [GRCh38]
Chr5:38482247 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.2119dup (p.Gln707fs) duplication not provided [RCV002867537] Chr5:38490237..38490238 [GRCh38]
Chr5:38490339..38490340 [GRCh37]
Chr5:5p13.1		 pathogenic
NM_001127671.2(LIFR):c.853A>G (p.Thr285Ala) single nucleotide variant not provided [RCV002999122] Chr5:38510602 [GRCh38]
Chr5:38510704 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.1306C>T (p.Pro436Ser) single nucleotide variant not provided [RCV002592009] Chr5:38504107 [GRCh38]
Chr5:38504209 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.2266_2267dup (p.Leu756fs) duplication not provided [RCV003055264] Chr5:38489145..38489146 [GRCh38]
Chr5:38489247..38489248 [GRCh37]
Chr5:5p13.1		 pathogenic
NM_001127671.2(LIFR):c.1226C>T (p.Thr409Ile) single nucleotide variant not provided [RCV003077467] Chr5:38505970 [GRCh38]
Chr5:38506072 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.2694G>A (p.Leu898=) single nucleotide variant not provided [RCV002847229] Chr5:38482195 [GRCh38]
Chr5:38482297 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.640G>A (p.Ala214Thr) single nucleotide variant not provided [RCV002952930] Chr5:38511886 [GRCh38]
Chr5:38511988 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.1122-13T>C single nucleotide variant not provided [RCV002797347] Chr5:38506087 [GRCh38]
Chr5:38506189 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.3095C>A (p.Ala1032Asp) single nucleotide variant Inborn genetic diseases [RCV002911429] Chr5:38481794 [GRCh38]
Chr5:38481896 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.1467T>C (p.Asn489=) single nucleotide variant not provided [RCV002639063] Chr5:38502770 [GRCh38]
Chr5:38502872 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.692G>T (p.Gly231Val) single nucleotide variant not provided [RCV002576315] Chr5:38511834 [GRCh38]
Chr5:38511936 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.2349A>G (p.Ile783Met) single nucleotide variant Inborn genetic diseases [RCV002918809]|not provided [RCV002932702] Chr5:38485967 [GRCh38]
Chr5:38486069 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.257+10A>G single nucleotide variant not provided [RCV003007621] Chr5:38528716 [GRCh38]
Chr5:38528818 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.2794C>T (p.Arg932Cys) single nucleotide variant not provided [RCV003083616] Chr5:38482095 [GRCh38]
Chr5:38482197 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.2949T>G (p.Pro983=) single nucleotide variant not provided [RCV002700682] Chr5:38481940 [GRCh38]
Chr5:38482042 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.2611C>T (p.Pro871Ser) single nucleotide variant not provided [RCV002575859] Chr5:38482648 [GRCh38]
Chr5:38482750 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.2875C>A (p.Pro959Thr) single nucleotide variant Inborn genetic diseases [RCV003274309]|not provided [RCV002625142] Chr5:38482014 [GRCh38]
Chr5:38482116 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.243T>C (p.Val81=) single nucleotide variant not provided [RCV002745712] Chr5:38528740 [GRCh38]
Chr5:38528842 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.696C>G (p.Leu232=) single nucleotide variant not provided [RCV003008336] Chr5:38511830 [GRCh38]
Chr5:38511932 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.2712C>T (p.Thr904=) single nucleotide variant not provided [RCV002745530] Chr5:38482177 [GRCh38]
Chr5:38482279 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.2046T>A (p.Thr682=) single nucleotide variant not provided [RCV002894857] Chr5:38493625 [GRCh38]
Chr5:38493727 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.3254G>A (p.Trp1085Ter) single nucleotide variant not provided [RCV002663831] Chr5:38481635 [GRCh38]
Chr5:38481737 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.91T>C (p.Ser31Pro) single nucleotide variant Inborn genetic diseases [RCV002873568] Chr5:38530557 [GRCh38]
Chr5:38530659 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.314A>G (p.His105Arg) single nucleotide variant not provided [RCV002644040] Chr5:38527238 [GRCh38]
Chr5:38527340 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.659T>C (p.Ile220Thr) single nucleotide variant not provided [RCV003083566] Chr5:38511867 [GRCh38]
Chr5:38511969 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.175A>C (p.Asn59His) single nucleotide variant Inborn genetic diseases [RCV002931268] Chr5:38528808 [GRCh38]
Chr5:38528910 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.1056T>C (p.Ser352=) single nucleotide variant not provided [RCV003082705] Chr5:38506568 [GRCh38]
Chr5:38506670 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.2848T>G (p.Cys950Gly) single nucleotide variant Inborn genetic diseases [RCV002891527] Chr5:38482041 [GRCh38]
Chr5:38482143 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.900G>A (p.Lys300=) single nucleotide variant not provided [RCV002663868] Chr5:38510555 [GRCh38]
Chr5:38510657 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.33A>G (p.Pro11=) single nucleotide variant Stüve-Wiedemann syndrome 1 [RCV003111593]|not provided [RCV002786541] Chr5:38530615 [GRCh38]
Chr5:38530717 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.2523C>T (p.Leu841=) single nucleotide variant not provided [RCV002801727] Chr5:38484843 [GRCh38]
Chr5:38484945 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.2336-20A>G single nucleotide variant not provided [RCV002625301] Chr5:38486000 [GRCh38]
Chr5:38486102 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.3174A>G (p.Gly1058=) single nucleotide variant not provided [RCV002871850] Chr5:38481715 [GRCh38]
Chr5:38481817 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.1301A>G (p.His434Arg) single nucleotide variant not provided [RCV002915026] Chr5:38504112 [GRCh38]
Chr5:38504214 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.704G>A (p.Trp235Ter) single nucleotide variant not provided [RCV003022947] Chr5:38511822 [GRCh38]
Chr5:38511924 [GRCh37]
Chr5:5p13.1		 pathogenic
NM_001127671.2(LIFR):c.1671+9C>T single nucleotide variant not provided [RCV003023190] Chr5:38499504 [GRCh38]
Chr5:38499606 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.522T>C (p.Ile174=) single nucleotide variant not provided [RCV003056897] Chr5:38523458 [GRCh38]
Chr5:38523560 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.626T>C (p.Met209Thr) single nucleotide variant not provided [RCV002643613] Chr5:38511900 [GRCh38]
Chr5:38512002 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.1671+1G>T single nucleotide variant not provided [RCV003083675] Chr5:38499512 [GRCh38]
Chr5:38499614 [GRCh37]
Chr5:5p13.1		 likely pathogenic
NM_001127671.2(LIFR):c.2243C>T (p.Pro748Leu) single nucleotide variant not provided [RCV002626504] Chr5:38489170 [GRCh38]
Chr5:38489272 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.2284T>C (p.Tyr762His) single nucleotide variant Inborn genetic diseases [RCV003367910]|not provided [RCV002928565] Chr5:38489129 [GRCh38]
Chr5:38489231 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.2592-9del deletion not provided [RCV002642526] Chr5:38482676 [GRCh38]
Chr5:38482778 [GRCh37]
Chr5:5p13.1		 benign
NM_001127671.2(LIFR):c.397+3A>C single nucleotide variant not provided [RCV002954014] Chr5:38527152 [GRCh38]
Chr5:38527254 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.1903C>T (p.Gln635Ter) single nucleotide variant not provided [RCV002928861] Chr5:38493768 [GRCh38]
Chr5:38493870 [GRCh37]
Chr5:5p13.1		 pathogenic
NM_001127671.2(LIFR):c.499C>T (p.Arg167Cys) single nucleotide variant not provided [RCV002664128] Chr5:38523481 [GRCh38]
Chr5:38523583 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.1587A>G (p.Leu529=) single nucleotide variant not provided [RCV003041071] Chr5:38502650 [GRCh38]
Chr5:38502752 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.2733G>A (p.Leu911=) single nucleotide variant not provided [RCV002872353] Chr5:38482156 [GRCh38]
Chr5:38482258 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.2349A>T (p.Ile783=) single nucleotide variant not provided [RCV003022885] Chr5:38485967 [GRCh38]
Chr5:38486069 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.3240T>C (p.Ser1080=) single nucleotide variant not provided [RCV002830191] Chr5:38481649 [GRCh38]
Chr5:38481751 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.777A>G (p.Lys259=) single nucleotide variant not provided [RCV002894137] Chr5:38510678 [GRCh38]
Chr5:38510780 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.2167+11T>G single nucleotide variant not provided [RCV003025923] Chr5:38490179 [GRCh38]
Chr5:38490281 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.1305T>C (p.Thr435=) single nucleotide variant not provided [RCV002642865] Chr5:38504108 [GRCh38]
Chr5:38504210 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.562-3del deletion not provided [RCV002957308] Chr5:38511967 [GRCh38]
Chr5:38512069 [GRCh37]
Chr5:5p13.1		 benign
NM_001127671.2(LIFR):c.287C>A (p.Thr96Asn) single nucleotide variant not provided [RCV003058957] Chr5:38527265 [GRCh38]
Chr5:38527367 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.324T>C (p.Tyr108=) single nucleotide variant not provided [RCV002666661] Chr5:38527228 [GRCh38]
Chr5:38527330 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.1975A>T (p.Ile659Phe) single nucleotide variant not provided [RCV002766435] Chr5:38493696 [GRCh38]
Chr5:38493798 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.1050A>C (p.Ile350=) single nucleotide variant not provided [RCV002851770] Chr5:38506574 [GRCh38]
Chr5:38506676 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.3002A>G (p.Tyr1001Cys) single nucleotide variant Inborn genetic diseases [RCV004073097]|not provided [RCV003082036] Chr5:38481887 [GRCh38]
Chr5:38481989 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.2168-7T>C single nucleotide variant not provided [RCV002663476] Chr5:38489252 [GRCh38]
Chr5:38489354 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.1425A>G (p.Ser475=) single nucleotide variant not provided [RCV003085455] Chr5:38503988 [GRCh38]
Chr5:38504090 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.3166T>C (p.Ser1056Pro) single nucleotide variant not provided [RCV003083326] Chr5:38481723 [GRCh38]
Chr5:38481825 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.2781C>T (p.Ser927=) single nucleotide variant not provided [RCV002890364] Chr5:38482108 [GRCh38]
Chr5:38482210 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.45G>A (p.Val15=) single nucleotide variant not provided [RCV002932163] Chr5:38530603 [GRCh38]
Chr5:38530705 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.258-7A>G single nucleotide variant not provided [RCV002745298] Chr5:38527301 [GRCh38]
Chr5:38527403 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.1180C>A (p.Gln394Lys) single nucleotide variant not provided [RCV002632349] Chr5:38506016 [GRCh38]
Chr5:38506118 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.2181A>T (p.Ala727=) single nucleotide variant not provided [RCV002601643] Chr5:38489232 [GRCh38]
Chr5:38489334 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.1865C>T (p.Ala622Val) single nucleotide variant not provided [RCV002651905] Chr5:38496402 [GRCh38]
Chr5:38496504 [GRCh37]
Chr5:5p13.1		 likely pathogenic|uncertain significance
NM_001127671.2(LIFR):c.3077C>T (p.Ala1026Val) single nucleotide variant not provided [RCV003065338] Chr5:38481812 [GRCh38]
Chr5:38481914 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.249T>C (p.Ile83=) single nucleotide variant not provided [RCV002676610] Chr5:38528734 [GRCh38]
Chr5:38528836 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.2854C>G (p.Pro952Ala) single nucleotide variant Inborn genetic diseases [RCV002897354] Chr5:38482035 [GRCh38]
Chr5:38482137 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.317G>A (p.Gly106Asp) single nucleotide variant not provided [RCV003065242] Chr5:38527235 [GRCh38]
Chr5:38527337 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.1672-2A>G single nucleotide variant not provided [RCV002988588] Chr5:38496597 [GRCh38]
Chr5:38496699 [GRCh37]
Chr5:5p13.1		 likely pathogenic
NM_001127671.2(LIFR):c.1515T>C (p.Tyr505=) single nucleotide variant not provided [RCV002833400] Chr5:38502722 [GRCh38]
Chr5:38502824 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.3149G>C (p.Ser1050Thr) single nucleotide variant Inborn genetic diseases [RCV002935224] Chr5:38481740 [GRCh38]
Chr5:38481842 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.2164T>C (p.Leu722=) single nucleotide variant not provided [RCV002746232] Chr5:38490193 [GRCh38]
Chr5:38490295 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.416C>T (p.Pro139Leu) single nucleotide variant Inborn genetic diseases [RCV002627955]|not provided [RCV002627956] Chr5:38523564 [GRCh38]
Chr5:38523666 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.1674T>C (p.Pro558=) single nucleotide variant not provided [RCV003060297] Chr5:38496593 [GRCh38]
Chr5:38496695 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.2235A>G (p.Glu745=) single nucleotide variant not provided [RCV003010307] Chr5:38489178 [GRCh38]
Chr5:38489280 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.143-8_143-7insTG insertion not provided [RCV003026411] Chr5:38528847..38528848 [GRCh38]
Chr5:38528949..38528950 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.1947C>G (p.Tyr649Ter) single nucleotide variant not provided [RCV002877253] Chr5:38493724 [GRCh38]
Chr5:38493826 [GRCh37]
Chr5:5p13.1		 pathogenic
NM_001127671.2(LIFR):c.3183C>T (p.Cys1061=) single nucleotide variant not provided [RCV003029056] Chr5:38481706 [GRCh38]
Chr5:38481808 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.1510_1513del (p.Leu504fs) deletion not provided [RCV003026425] Chr5:38502724..38502727 [GRCh38]
Chr5:38502826..38502829 [GRCh37]
Chr5:5p13.1		 pathogenic
NM_001127671.2(LIFR):c.378A>C (p.Thr126=) single nucleotide variant not provided [RCV002630638] Chr5:38527174 [GRCh38]
Chr5:38527276 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.1526T>C (p.Ile509Thr) single nucleotide variant Inborn genetic diseases [RCV002717440] Chr5:38502711 [GRCh38]
Chr5:38502813 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.2262C>T (p.Gly754=) single nucleotide variant not provided [RCV003087479] Chr5:38489151 [GRCh38]
Chr5:38489253 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.2720A>G (p.Asn907Ser) single nucleotide variant Inborn genetic diseases [RCV003250729]|not provided [RCV003060948] Chr5:38482169 [GRCh38]
Chr5:38482271 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.3290A>T (p.Asp1097Val) single nucleotide variant not provided [RCV002670763] Chr5:38481599 [GRCh38]
Chr5:38481701 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.2010C>A (p.Cys670Ter) single nucleotide variant not provided [RCV003029127] Chr5:38493661 [GRCh38]
Chr5:38493763 [GRCh37]
Chr5:5p13.1		 pathogenic
NM_001127671.2(LIFR):c.60G>C (p.Met20Ile) single nucleotide variant Inborn genetic diseases [RCV002855534] Chr5:38530588 [GRCh38]
Chr5:38530690 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.1611G>A (p.Lys537=) single nucleotide variant not provided [RCV003044717] Chr5:38499573 [GRCh38]
Chr5:38499675 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.2497+14T>A single nucleotide variant not provided [RCV002629844] Chr5:38485805 [GRCh38]
Chr5:38485907 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.2991A>G (p.Gly997=) single nucleotide variant not provided [RCV002806814] Chr5:38481898 [GRCh38]
Chr5:38482000 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.2995G>T (p.Ala999Ser) single nucleotide variant not provided [RCV002647264] Chr5:38481894 [GRCh38]
Chr5:38481996 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.3289G>A (p.Asp1097Asn) single nucleotide variant not provided [RCV002629889] Chr5:38481600 [GRCh38]
Chr5:38481702 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.1263A>C (p.Ser421=) single nucleotide variant not provided [RCV002811237] Chr5:38505933 [GRCh38]
Chr5:38506035 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.1438-3T>G single nucleotide variant not provided [RCV002715855] Chr5:38502802 [GRCh38]
Chr5:38502904 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.3285A>G (p.Pro1095=) single nucleotide variant not provided [RCV002806053] Chr5:38481604 [GRCh38]
Chr5:38481706 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.991+10T>G single nucleotide variant not provided [RCV003046148] Chr5:38510454 [GRCh38]
Chr5:38510556 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.1622C>T (p.Thr541Ile) single nucleotide variant not provided [RCV002579221] Chr5:38499562 [GRCh38]
Chr5:38499664 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.3156T>C (p.Ser1052=) single nucleotide variant not provided [RCV003028766] Chr5:38481733 [GRCh38]
Chr5:38481835 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.904C>T (p.Arg302Cys) single nucleotide variant not provided [RCV003063126] Chr5:38510551 [GRCh38]
Chr5:38510653 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.2367T>C (p.Thr789=) single nucleotide variant not provided [RCV002962853] Chr5:38485949 [GRCh38]
Chr5:38486051 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.1851A>G (p.Pro617=) single nucleotide variant not provided [RCV002806937] Chr5:38496416 [GRCh38]
Chr5:38496518 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.1566G>A (p.Trp522Ter) single nucleotide variant not provided [RCV003046344] Chr5:38502671 [GRCh38]
Chr5:38502773 [GRCh37]
Chr5:5p13.1		 pathogenic
NM_001127671.2(LIFR):c.1438-4A>T single nucleotide variant not provided [RCV002650295] Chr5:38502803 [GRCh38]
Chr5:38502905 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.1575A>G (p.Lys525=) single nucleotide variant not provided [RCV003045322] Chr5:38502662 [GRCh38]
Chr5:38502764 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.955G>A (p.Glu319Lys) single nucleotide variant not provided [RCV002647739] Chr5:38510500 [GRCh38]
Chr5:38510602 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.2952A>G (p.Gln984=) single nucleotide variant not provided [RCV003088479] Chr5:38481937 [GRCh38]
Chr5:38482039 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.2558T>G (p.Val853Gly) single nucleotide variant not provided [RCV002601321] Chr5:38484808 [GRCh38]
Chr5:38484910 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.465A>C (p.Leu155=) single nucleotide variant not provided [RCV002856415] Chr5:38523515 [GRCh38]
Chr5:38523617 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.4A>G (p.Met2Val) single nucleotide variant Inborn genetic diseases [RCV002922412]|not provided [RCV002922413] Chr5:38530644 [GRCh38]
Chr5:38530746 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.1079C>T (p.Ala360Val) single nucleotide variant not provided [RCV002933872] Chr5:38506545 [GRCh38]
Chr5:38506647 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.1254A>T (p.Arg418=) single nucleotide variant not provided [RCV002962058] Chr5:38505942 [GRCh38]
Chr5:38506044 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.1596A>G (p.Glu532=) single nucleotide variant not provided [RCV002933924] Chr5:38502641 [GRCh38]
Chr5:38502743 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.9T>C (p.Asp3=) single nucleotide variant not provided [RCV002746510] Chr5:38530639 [GRCh38]
Chr5:38530741 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.2080G>A (p.Gly694Ser) single nucleotide variant not provided [RCV002680797] Chr5:38490277 [GRCh38]
Chr5:38490379 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.1074G>A (p.Val358=) single nucleotide variant not provided [RCV002635389] Chr5:38506550 [GRCh38]
Chr5:38506652 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.3267C>G (p.Asn1089Lys) single nucleotide variant not provided [RCV002658005] Chr5:38481622 [GRCh38]
Chr5:38481724 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.1671+18C>T single nucleotide variant not provided [RCV002633774] Chr5:38499495 [GRCh38]
Chr5:38499597 [GRCh37]
Chr5:5p13.1		 benign
NM_001127671.2(LIFR):c.1600+17A>G single nucleotide variant not provided [RCV003068118] Chr5:38502620 [GRCh38]
Chr5:38502722 [GRCh37]
Chr5:5p13.1		 benign
NM_001127671.2(LIFR):c.2168-8T>A single nucleotide variant not provided [RCV003069320] Chr5:38489253 [GRCh38]
Chr5:38489355 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.2679T>G (p.Ser893Arg) single nucleotide variant not provided [RCV002634119] Chr5:38482210 [GRCh38]
Chr5:38482312 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.736+11A>G single nucleotide variant not provided [RCV003051460] Chr5:38511779 [GRCh38]
Chr5:38511881 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.3217A>G (p.Lys1073Glu) single nucleotide variant Inborn genetic diseases [RCV003170984]|not provided [RCV003050760] Chr5:38481672 [GRCh38]
Chr5:38481774 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.737-15T>C single nucleotide variant not provided [RCV003052730] Chr5:38510733 [GRCh38]
Chr5:38510835 [GRCh37]
Chr5:5p13.1		 benign
NM_001127671.2(LIFR):c.500G>A (p.Arg167His) single nucleotide variant not provided [RCV003069212] Chr5:38523480 [GRCh38]
Chr5:38523582 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.1254A>G (p.Arg418=) single nucleotide variant not provided [RCV002814484] Chr5:38505942 [GRCh38]
Chr5:38506044 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.1190T>G (p.Phe397Cys) single nucleotide variant not provided [RCV003070800] Chr5:38506006 [GRCh38]
Chr5:38506108 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.2070G>A (p.Glu690=) single nucleotide variant not provided [RCV002606879] Chr5:38490287 [GRCh38]
Chr5:38490389 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.1929T>C (p.Ile643=) single nucleotide variant not provided [RCV002607924] Chr5:38493742 [GRCh38]
Chr5:38493844 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.1021T>A (p.Cys341Ser) single nucleotide variant not provided [RCV002653075] Chr5:38506603 [GRCh38]
Chr5:38506705 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.697G>A (p.Glu233Lys) single nucleotide variant not provided [RCV003071835] Chr5:38511829 [GRCh38]
Chr5:38511931 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.1838T>C (p.Val613Ala) single nucleotide variant not provided [RCV003050779] Chr5:38496429 [GRCh38]
Chr5:38496531 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.2968G>C (p.Glu990Gln) single nucleotide variant not provided [RCV002582403] Chr5:38481921 [GRCh38]
Chr5:38482023 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.2069A>C (p.Glu690Ala) single nucleotide variant Inborn genetic diseases [RCV003256823] Chr5:38490288 [GRCh38]
Chr5:38490390 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.2940G>A (p.Met980Ile) single nucleotide variant Inborn genetic diseases [RCV003203402] Chr5:38481949 [GRCh38]
Chr5:38482051 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.58A>G (p.Met20Val) single nucleotide variant Inborn genetic diseases [RCV003194061] Chr5:38530590 [GRCh38]
Chr5:38530692 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.2833G>T (p.Val945Leu) single nucleotide variant Inborn genetic diseases [RCV003194233] Chr5:38482056 [GRCh38]
Chr5:38482158 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.952A>G (p.Thr318Ala) single nucleotide variant Inborn genetic diseases [RCV003202764] Chr5:38510503 [GRCh38]
Chr5:38510605 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.475G>A (p.Asp159Asn) single nucleotide variant Inborn genetic diseases [RCV003190536] Chr5:38523505 [GRCh38]
Chr5:38523607 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.2472_2476del (p.Ser824fs) deletion Stüve-Wiedemann syndrome 1 [RCV003141142] Chr5:38485840..38485844 [GRCh38]
Chr5:38485942..38485946 [GRCh37]
Chr5:5p13.1		 pathogenic
NM_001127671.2(LIFR):c.331A>G (p.Thr111Ala) single nucleotide variant Inborn genetic diseases [RCV003258619] Chr5:38527221 [GRCh38]
Chr5:38527323 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.172A>G (p.Asn58Asp) single nucleotide variant Inborn genetic diseases [RCV003218818] Chr5:38528811 [GRCh38]
Chr5:38528913 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.1006C>G (p.Pro336Ala) single nucleotide variant Inborn genetic diseases [RCV003383227] Chr5:38506618 [GRCh38]
Chr5:38506720 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.2168-13T>G single nucleotide variant not provided [RCV003875030] Chr5:38489258 [GRCh38]
Chr5:38489360 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.2592-19A>G single nucleotide variant not provided [RCV003569626] Chr5:38482686 [GRCh38]
Chr5:38482788 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.2835G>C (p.Val945=) single nucleotide variant not provided [RCV003569706] Chr5:38482054 [GRCh38]
Chr5:38482156 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.143-5T>C single nucleotide variant not provided [RCV003571264] Chr5:38528845 [GRCh38]
Chr5:38528947 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.1914G>A (p.Gly638=) single nucleotide variant not provided [RCV003543270] Chr5:38493757 [GRCh38]
Chr5:38493859 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.2497+15G>A single nucleotide variant not provided [RCV003570345] Chr5:38485804 [GRCh38]
Chr5:38485906 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.2065+11T>C single nucleotide variant not provided [RCV003874861] Chr5:38493595 [GRCh38]
Chr5:38493697 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.1174dup (p.Ser392fs) duplication not provided [RCV003686322] Chr5:38506021..38506022 [GRCh38]
Chr5:38506123..38506124 [GRCh37]
Chr5:5p13.1		 pathogenic
GRCh38/hg38 5p13.3-12(chr5:29299893-45899898)x3 copy number gain See cases [RCV003482191] Chr5:29299893..45899898 [GRCh38]
Chr5:5p13.3-12		 likely pathogenic
NM_001127671.2(LIFR):c.657A>G (p.Glu219=) single nucleotide variant not provided [RCV003429621] Chr5:38511869 [GRCh38]
Chr5:38511971 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.2878A>G (p.Asn960Asp) single nucleotide variant LIFR-related disorder [RCV003417021] Chr5:38482011 [GRCh38]
Chr5:38482113 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.1671+11A>C single nucleotide variant not provided [RCV003740284] Chr5:38499502 [GRCh38]
Chr5:38499604 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.992-14T>G single nucleotide variant not provided [RCV003694086] Chr5:38506646 [GRCh38]
Chr5:38506748 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.1438-15T>C single nucleotide variant not provided [RCV003738946] Chr5:38502814 [GRCh38]
Chr5:38502916 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.398-2_398-1del deletion not provided [RCV003695275] Chr5:38523583..38523584 [GRCh38]
Chr5:38523685..38523686 [GRCh37]
Chr5:5p13.1		 likely pathogenic
NM_001127671.2(LIFR):c.397del (p.Ser133fs) deletion not provided [RCV003693098] Chr5:38527155 [GRCh38]
Chr5:38527257 [GRCh37]
Chr5:5p13.1		 pathogenic
NM_001127671.2(LIFR):c.992-18G>T single nucleotide variant not provided [RCV003695469] Chr5:38506650 [GRCh38]
Chr5:38506752 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.1590A>G (p.Thr530=) single nucleotide variant not provided [RCV003694460] Chr5:38502647 [GRCh38]
Chr5:38502749 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.991+8T>A single nucleotide variant not provided [RCV003693512] Chr5:38510456 [GRCh38]
Chr5:38510558 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.1305T>A (p.Thr435=) single nucleotide variant not provided [RCV003696517] Chr5:38504108 [GRCh38]
Chr5:38504210 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.1644T>C (p.Asp548=) single nucleotide variant not provided [RCV003578754] Chr5:38499540 [GRCh38]
Chr5:38499642 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.562-11T>C single nucleotide variant not provided [RCV003692668] Chr5:38511975 [GRCh38]
Chr5:38512077 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.1122-16T>G single nucleotide variant not provided [RCV003740256] Chr5:38506090 [GRCh38]
Chr5:38506192 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.2065+7T>C single nucleotide variant not provided [RCV003543956] Chr5:38493599 [GRCh38]
Chr5:38493701 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.1844C>G (p.Ser615Ter) single nucleotide variant not provided [RCV003696789] Chr5:38496423 [GRCh38]
Chr5:38496525 [GRCh37]
Chr5:5p13.1		 pathogenic
NM_001127671.2(LIFR):c.1107del (p.Ser368_Tyr369insTer) deletion not provided [RCV003576706] Chr5:38506517 [GRCh38]
Chr5:38506619 [GRCh37]
Chr5:5p13.1		 pathogenic
NM_001127671.2(LIFR):c.1885+15T>G single nucleotide variant not provided [RCV003740172] Chr5:38496367 [GRCh38]
Chr5:38496469 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.2541T>A (p.Ala847=) single nucleotide variant not provided [RCV003547535] Chr5:38484825 [GRCh38]
Chr5:38484927 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.1671+9C>G single nucleotide variant not provided [RCV003881895] Chr5:38499504 [GRCh38]
Chr5:38499606 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.142+12A>C single nucleotide variant not provided [RCV003576451] Chr5:38530494 [GRCh38]
Chr5:38530596 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.2226A>G (p.Val742=) single nucleotide variant not provided [RCV003876920] Chr5:38489187 [GRCh38]
Chr5:38489289 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.1885+11del deletion not provided [RCV003879666] Chr5:38496371 [GRCh38]
Chr5:38496473 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.398-18T>C single nucleotide variant not provided [RCV003876271] Chr5:38523600 [GRCh38]
Chr5:38523702 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.737-16del deletion not provided [RCV003881259] Chr5:38510734 [GRCh38]
Chr5:38510836 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.1671+12A>C single nucleotide variant not provided [RCV003573225] Chr5:38499501 [GRCh38]
Chr5:38499603 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.3000C>T (p.Gly1000=) single nucleotide variant not provided [RCV003714002] Chr5:38481889 [GRCh38]
Chr5:38481991 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.258-16C>G single nucleotide variant not provided [RCV003738679] Chr5:38527310 [GRCh38]
Chr5:38527412 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.2034del (p.Ser679fs) deletion Stüve-Wiedemann syndrome 1 [RCV003493169] Chr5:38493637 [GRCh38]
Chr5:38493739 [GRCh37]
Chr5:5p13.1		 pathogenic
NM_001127671.2(LIFR):c.2066-15A>G single nucleotide variant not provided [RCV003692055] Chr5:38490306 [GRCh38]
Chr5:38490408 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.1886-7A>C single nucleotide variant not provided [RCV003576601] Chr5:38493792 [GRCh38]
Chr5:38493894 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.2040C>T (p.Asn680=) single nucleotide variant not provided [RCV003696269] Chr5:38493631 [GRCh38]
Chr5:38493733 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.1394dup (p.Leu465fs) duplication not provided [RCV003571982] Chr5:38504018..38504019 [GRCh38]
Chr5:38504120..38504121 [GRCh37]
Chr5:5p13.1		 pathogenic
NM_001127671.2(LIFR):c.2268_2269dup (p.Arg757fs) duplication not provided [RCV003694020] Chr5:38489143..38489144 [GRCh38]
Chr5:38489245..38489246 [GRCh37]
Chr5:5p13.1		 pathogenic
NM_001127671.2(LIFR):c.3108A>T (p.Thr1036=) single nucleotide variant not provided [RCV003576773] Chr5:38481781 [GRCh38]
Chr5:38481883 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.2671-20del deletion not provided [RCV003691637] Chr5:38482238 [GRCh38]
Chr5:38482340 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.561+11A>T single nucleotide variant not provided [RCV003687460] Chr5:38523408 [GRCh38]
Chr5:38523510 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.1291+19_1291+21del deletion not provided [RCV003828773] Chr5:38505884..38505886 [GRCh38]
Chr5:38505986..38505988 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.3099T>C (p.Asn1033=) single nucleotide variant not provided [RCV003662197] Chr5:38481790 [GRCh38]
Chr5:38481892 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.864C>T (p.Pro288=) single nucleotide variant not provided [RCV003691676] Chr5:38510591 [GRCh38]
Chr5:38510693 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.470G>A (p.Trp157Ter) single nucleotide variant not provided [RCV003687012] Chr5:38523510 [GRCh38]
Chr5:38523612 [GRCh37]
Chr5:5p13.1		 pathogenic
NM_001127671.2(LIFR):c.1438-18T>A single nucleotide variant not provided [RCV003828013] Chr5:38502817 [GRCh38]
Chr5:38502919 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.2464del (p.Glu822fs) deletion not provided [RCV003547435] Chr5:38485852 [GRCh38]
Chr5:38485954 [GRCh37]
Chr5:5p13.1		 pathogenic
NM_001127671.2(LIFR):c.2433G>A (p.Leu811=) single nucleotide variant not provided [RCV003687203] Chr5:38485883 [GRCh38]
Chr5:38485985 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.882G>C (p.Gly294=) single nucleotide variant not provided [RCV003692695] Chr5:38510573 [GRCh38]
Chr5:38510675 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.143-37GT[21] microsatellite not provided [RCV003545769] Chr5:38528849..38528850 [GRCh38]
Chr5:38528951..38528952 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.879T>C (p.Asp293=) single nucleotide variant not provided [RCV003692737] Chr5:38510576 [GRCh38]
Chr5:38510678 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.1601-8_1601-3dup duplication not provided [RCV003713531] Chr5:38499585..38499586 [GRCh38]
Chr5:38499687..38499688 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.312A>C (p.Ser104=) single nucleotide variant not provided [RCV003687512] Chr5:38527240 [GRCh38]
Chr5:38527342 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.2505A>T (p.Gly835=) single nucleotide variant not provided [RCV003876742] Chr5:38484861 [GRCh38]
Chr5:38484963 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.3231T>A (p.Ser1077=) single nucleotide variant not provided [RCV003689305] Chr5:38481658 [GRCh38]
Chr5:38481760 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.1122-14C>G single nucleotide variant not provided [RCV003691248] Chr5:38506088 [GRCh38]
Chr5:38506190 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.2199G>A (p.Glu733=) single nucleotide variant not provided [RCV003574076] Chr5:38489214 [GRCh38]
Chr5:38489316 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.2066-19T>C single nucleotide variant not provided [RCV003827791] Chr5:38490310 [GRCh38]
Chr5:38490412 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.2498-17C>A single nucleotide variant not provided [RCV003662471] Chr5:38484885 [GRCh38]
Chr5:38484987 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.2671-4C>T single nucleotide variant not provided [RCV003687922] Chr5:38482222 [GRCh38]
Chr5:38482324 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.2167+15dup duplication not provided [RCV003548767] Chr5:38490174..38490175 [GRCh38]
Chr5:38490276..38490277 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.1371C>A (p.Gly457=) single nucleotide variant not provided [RCV003580591] Chr5:38504042 [GRCh38]
Chr5:38504144 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.309T>G (p.Leu103=) single nucleotide variant not provided [RCV003851434] Chr5:38527243 [GRCh38]
Chr5:38527345 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.1180C>T (p.Gln394Ter) single nucleotide variant not provided [RCV003665487] Chr5:38506016 [GRCh38]
Chr5:38506118 [GRCh37]
Chr5:5p13.1		 pathogenic
NM_001127671.2(LIFR):c.1876del (p.Ile626fs) deletion not provided [RCV003550046] Chr5:38496391 [GRCh38]
Chr5:38496493 [GRCh37]
Chr5:5p13.1		 pathogenic
NM_001127671.2(LIFR):c.2397T>C (p.Ala799=) single nucleotide variant not provided [RCV003698034] Chr5:38485919 [GRCh38]
Chr5:38486021 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.381A>T (p.Leu127=) single nucleotide variant not provided [RCV003580913] Chr5:38527171 [GRCh38]
Chr5:38527273 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.561+13A>G single nucleotide variant not provided [RCV003579920] Chr5:38523406 [GRCh38]
Chr5:38523508 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.1903del (p.Gln635fs) deletion not provided [RCV003581031] Chr5:38493768 [GRCh38]
Chr5:38493870 [GRCh37]
Chr5:5p13.1		 pathogenic
NM_001127671.2(LIFR):c.1438-30AT[7] microsatellite not provided [RCV003580051] Chr5:38502817..38502818 [GRCh38]
Chr5:38502919..38502920 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.2065+12T>C single nucleotide variant not provided [RCV003580056] Chr5:38493594 [GRCh38]
Chr5:38493696 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.1438-10T>A single nucleotide variant not provided [RCV003549622] Chr5:38502809 [GRCh38]
Chr5:38502911 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.1671+8T>A single nucleotide variant not provided [RCV003549717] Chr5:38499505 [GRCh38]
Chr5:38499607 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.1356T>C (p.Ser452=) single nucleotide variant not provided [RCV003548760] Chr5:38504057 [GRCh38]
Chr5:38504159 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.2090A>G (p.Tyr697Cys) single nucleotide variant Inborn genetic diseases [RCV004415058] Chr5:38490267 [GRCh38]
Chr5:38490369 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.2846A>G (p.Tyr949Cys) single nucleotide variant Inborn genetic diseases [RCV004415062] Chr5:38482043 [GRCh38]
Chr5:38482145 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.2592-18A>G single nucleotide variant not provided [RCV003832994] Chr5:38482685 [GRCh38]
Chr5:38482787 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.277T>C (p.Leu93=) single nucleotide variant not provided [RCV003726419] Chr5:38527275 [GRCh38]
Chr5:38527377 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.2592-16A>G single nucleotide variant not provided [RCV003562190] Chr5:38482683 [GRCh38]
Chr5:38482785 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.1885+13G>A single nucleotide variant not provided [RCV003725554] Chr5:38496369 [GRCh38]
Chr5:38496471 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.991+14T>G single nucleotide variant not provided [RCV003701725] Chr5:38510450 [GRCh38]
Chr5:38510552 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.142+2T>A single nucleotide variant not provided [RCV003702112] Chr5:38530504 [GRCh38]
Chr5:38530606 [GRCh37]
Chr5:5p13.1		 likely pathogenic
NM_001127671.2(LIFR):c.1710C>G (p.Ser570=) single nucleotide variant not provided [RCV003702516] Chr5:38496557 [GRCh38]
Chr5:38496659 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.2286C>G (p.Tyr762Ter) single nucleotide variant not provided [RCV003560468] Chr5:38489127 [GRCh38]
Chr5:38489229 [GRCh37]
Chr5:5p13.1		 pathogenic
NM_001127671.2(LIFR):c.562-15T>C single nucleotide variant not provided [RCV003668450] Chr5:38511979 [GRCh38]
Chr5:38512081 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.3162T>C (p.Ile1054=) single nucleotide variant not provided [RCV003724289] Chr5:38481727 [GRCh38]
Chr5:38481829 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.3048A>C (p.Ile1016=) single nucleotide variant not provided [RCV003558128] Chr5:38481841 [GRCh38]
Chr5:38481943 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.2065+16G>A single nucleotide variant not provided [RCV003667893] Chr5:38493590 [GRCh38]
Chr5:38493692 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.2167+14G>A single nucleotide variant not provided [RCV003725691] Chr5:38490176 [GRCh38]
Chr5:38490278 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.561+16G>T single nucleotide variant not provided [RCV003702828] Chr5:38523403 [GRCh38]
Chr5:38523505 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.1437+11C>T single nucleotide variant not provided [RCV003702897] Chr5:38503965 [GRCh38]
Chr5:38504067 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.1203A>G (p.Pro401=) single nucleotide variant not provided [RCV003702919] Chr5:38505993 [GRCh38]
Chr5:38506095 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.88T>C (p.Leu30=) single nucleotide variant not provided [RCV003671110] Chr5:38530560 [GRCh38]
Chr5:38530662 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.991+7A>G single nucleotide variant not provided [RCV003855996] Chr5:38510457 [GRCh38]
Chr5:38510559 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.741A>C (p.Ile247=) single nucleotide variant not provided [RCV003725186] Chr5:38510714 [GRCh38]
Chr5:38510816 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.736+18_736+20del deletion not provided [RCV003667525] Chr5:38511770..38511772 [GRCh38]
Chr5:38511872..38511874 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.1569C>T (p.Ser523=) single nucleotide variant not provided [RCV003725391] Chr5:38502668 [GRCh38]
Chr5:38502770 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.1494G>A (p.Lys498=) single nucleotide variant not provided [RCV003558308] Chr5:38502743 [GRCh38]
Chr5:38502845 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.1438-1G>A single nucleotide variant not provided [RCV003854356] Chr5:38502800 [GRCh38]
Chr5:38502902 [GRCh37]
Chr5:5p13.1		 likely pathogenic
NM_001127671.2(LIFR):c.258-14A>G single nucleotide variant not provided [RCV003725581] Chr5:38527308 [GRCh38]
Chr5:38527410 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.2168-15T>C single nucleotide variant not provided [RCV003723378] Chr5:38489260 [GRCh38]
Chr5:38489362 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.549G>A (p.Glu183=) single nucleotide variant not provided [RCV003811650] Chr5:38523431 [GRCh38]
Chr5:38523533 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.2274A>G (p.Gly758=) single nucleotide variant not provided [RCV003717326] Chr5:38489139 [GRCh38]
Chr5:38489241 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.147T>A (p.Ala49=) single nucleotide variant not provided [RCV003560247] Chr5:38528836 [GRCh38]
Chr5:38528938 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.991+9A>G single nucleotide variant not provided [RCV003663737] Chr5:38510455 [GRCh38]
Chr5:38510557 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.1292-4G>A single nucleotide variant not provided [RCV003659355] Chr5:38504125 [GRCh38]
Chr5:38504227 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.1438-6C>T single nucleotide variant not provided [RCV003835999] Chr5:38502805 [GRCh38]
Chr5:38502907 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.2706T>C (p.Pro902=) single nucleotide variant not provided [RCV003836056] Chr5:38482183 [GRCh38]
Chr5:38482285 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.1122-7_1122-4del microsatellite not provided [RCV003665575] Chr5:38506078..38506081 [GRCh38]
Chr5:38506180..38506183 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.258-17T>C single nucleotide variant not provided [RCV003666346] Chr5:38527311 [GRCh38]
Chr5:38527413 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.1032T>C (p.His344=) single nucleotide variant not provided [RCV003697057] Chr5:38506592 [GRCh38]
Chr5:38506694 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.2664C>G (p.Val888=) single nucleotide variant not provided [RCV003849636] Chr5:38482595 [GRCh38]
Chr5:38482697 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.2364T>C (p.Ile788=) single nucleotide variant not provided [RCV003663741] Chr5:38485952 [GRCh38]
Chr5:38486054 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.2591+1G>A single nucleotide variant not provided [RCV003549809] Chr5:38484774 [GRCh38]
Chr5:38484876 [GRCh37]
Chr5:5p13.1		 likely pathogenic
NM_001127671.2(LIFR):c.2591+12G>T single nucleotide variant not provided [RCV003568753] Chr5:38484763 [GRCh38]
Chr5:38484865 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.2066-18G>T single nucleotide variant not provided [RCV003712075] Chr5:38490309 [GRCh38]
Chr5:38490411 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.2167+16A>G single nucleotide variant not provided [RCV003676642] Chr5:38490174 [GRCh38]
Chr5:38490276 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.3222T>C (p.Asp1074=) single nucleotide variant not provided [RCV003709102] Chr5:38481667 [GRCh38]
Chr5:38481769 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.1147A>T (p.Lys383Ter) single nucleotide variant not provided [RCV003567643] Chr5:38506049 [GRCh38]
Chr5:38506151 [GRCh37]
Chr5:5p13.1		 pathogenic
NM_001127671.2(LIFR):c.1437+10T>G single nucleotide variant not provided [RCV003676110] Chr5:38503966 [GRCh38]
Chr5:38504068 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.2591+20T>C single nucleotide variant not provided [RCV003706695] Chr5:38484755 [GRCh38]
Chr5:38484857 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.999A>G (p.Pro333=) single nucleotide variant not provided [RCV003679421] Chr5:38506625 [GRCh38]
Chr5:38506727 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.462C>A (p.Tyr154Ter) single nucleotide variant not provided [RCV003847729] Chr5:38523518 [GRCh38]
Chr5:38523620 [GRCh37]
Chr5:5p13.1		 pathogenic
NM_001127671.2(LIFR):c.1843T>C (p.Ser615Pro) single nucleotide variant not provided [RCV003726986] Chr5:38496424 [GRCh38]
Chr5:38496526 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.1886-10C>T single nucleotide variant not provided [RCV003728242] Chr5:38493795 [GRCh38]
Chr5:38493897 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.992-8del deletion not provided [RCV003710510] Chr5:38506640 [GRCh38]
Chr5:38506742 [GRCh37]
Chr5:5p13.1		 benign
NM_001127671.2(LIFR):c.2167+17_2167+20del deletion not provided [RCV003562912] Chr5:38490170..38490173 [GRCh38]
Chr5:38490272..38490275 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.1299C>T (p.Pro433=) single nucleotide variant not provided [RCV003675697] Chr5:38504114 [GRCh38]
Chr5:38504216 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.2336-13A>G single nucleotide variant not provided [RCV003566482] Chr5:38485993 [GRCh38]
Chr5:38486095 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.562-19T>C single nucleotide variant not provided [RCV003681302] Chr5:38511983 [GRCh38]
Chr5:38512085 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.2244T>A (p.Pro748=) single nucleotide variant not provided [RCV003676646] Chr5:38489169 [GRCh38]
Chr5:38489271 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.1886-18C>A single nucleotide variant not provided [RCV003567781] Chr5:38493803 [GRCh38]
Chr5:38493905 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.992-10_992-8del deletion not provided [RCV003708187] Chr5:38506640..38506642 [GRCh38]
Chr5:38506742..38506744 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.142+7G>T single nucleotide variant not provided [RCV003681474] Chr5:38530499 [GRCh38]
Chr5:38530601 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.780G>C (p.Val260=) single nucleotide variant not provided [RCV003680546] Chr5:38510675 [GRCh38]
Chr5:38510777 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.939T>C (p.Asn313=) single nucleotide variant not provided [RCV003864489] Chr5:38510516 [GRCh38]
Chr5:38510618 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.398-14del deletion not provided [RCV003860958] Chr5:38523596 [GRCh38]
Chr5:38523698 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.3102A>G (p.Val1034=) single nucleotide variant not provided [RCV003845691] Chr5:38481787 [GRCh38]
Chr5:38481889 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.2336-14del deletion not provided [RCV003865549] Chr5:38485994 [GRCh38]
Chr5:38486096 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.396_397+2del deletion not provided [RCV003727497] Chr5:38527153..38527156 [GRCh38]
Chr5:38527255..38527258 [GRCh37]
Chr5:5p13.1		 pathogenic
NM_001127671.2(LIFR):c.2592-5T>C single nucleotide variant not provided [RCV003864598] Chr5:38482672 [GRCh38]
Chr5:38482774 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.1632G>A (p.Glu544=) single nucleotide variant not provided [RCV003670815] Chr5:38499552 [GRCh38]
Chr5:38499654 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.258-1G>T single nucleotide variant not provided [RCV003568563] Chr5:38527295 [GRCh38]
Chr5:38527397 [GRCh37]
Chr5:5p13.1		 likely pathogenic
NM_001127671.2(LIFR):c.66T>C (p.Thr22=) single nucleotide variant not provided [RCV003554070] Chr5:38530582 [GRCh38]
Chr5:38530684 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.1335T>C (p.Asn445=) single nucleotide variant not provided [RCV003568579] Chr5:38504078 [GRCh38]
Chr5:38504180 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.1893C>T (p.Leu631=) single nucleotide variant not provided [RCV003682661] Chr5:38493778 [GRCh38]
Chr5:38493880 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.2478T>C (p.Tyr826=) single nucleotide variant not provided [RCV003685790] Chr5:38485838 [GRCh38]
Chr5:38485940 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.3234T>C (p.Pro1078=) single nucleotide variant not provided [RCV003722082] Chr5:38481655 [GRCh38]
Chr5:38481757 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.78C>T (p.Phe26=) single nucleotide variant not provided [RCV003555520] Chr5:38530570 [GRCh38]
Chr5:38530672 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.3213T>C (p.Pro1071=) single nucleotide variant not provided [RCV003738544] Chr5:38481676 [GRCh38]
Chr5:38481778 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.2442T>C (p.Tyr814=) single nucleotide variant not provided [RCV003551706] Chr5:38485874 [GRCh38]
Chr5:38485976 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.2670+16C>T single nucleotide variant not provided [RCV003678541] Chr5:38482573 [GRCh38]
Chr5:38482675 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.398-17G>T single nucleotide variant not provided [RCV003732922] Chr5:38523599 [GRCh38]
Chr5:38523701 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.2053G>A (p.Val685Ile) single nucleotide variant not provided [RCV003686084] Chr5:38493618 [GRCh38]
Chr5:38493720 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.3246A>T (p.Gly1082=) single nucleotide variant not provided [RCV003551955] Chr5:38481643 [GRCh38]
Chr5:38481745 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.1438-2A>G single nucleotide variant not provided [RCV003568754] Chr5:38502801 [GRCh38]
Chr5:38502903 [GRCh37]
Chr5:5p13.1		 likely pathogenic
NM_001127671.2(LIFR):c.1437+18A>C single nucleotide variant not provided [RCV003853457] Chr5:38503958 [GRCh38]
Chr5:38504060 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.1672-17T>C single nucleotide variant not provided [RCV003721115] Chr5:38496612 [GRCh38]
Chr5:38496714 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.398-6T>C single nucleotide variant not provided [RCV003677386] Chr5:38523588 [GRCh38]
Chr5:38523690 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.1672-15G>A single nucleotide variant not provided [RCV003871394] Chr5:38496610 [GRCh38]
Chr5:38496712 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.2670+20T>C single nucleotide variant not provided [RCV003737553] Chr5:38482569 [GRCh38]
Chr5:38482671 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.1885+14A>T single nucleotide variant not provided [RCV003867522] Chr5:38496368 [GRCh38]
Chr5:38496470 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.258-20_258-19del deletion not provided [RCV003736108] Chr5:38527313..38527314 [GRCh38]
Chr5:38527415..38527416 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.2065+14G>C single nucleotide variant not provided [RCV003719737] Chr5:38493592 [GRCh38]
Chr5:38493694 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.2167+17C>G single nucleotide variant not provided [RCV003737837] Chr5:38490173 [GRCh38]
Chr5:38490275 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.1121+18A>T single nucleotide variant not provided [RCV003818974] Chr5:38506485 [GRCh38]
Chr5:38506587 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.992-17C>A single nucleotide variant not provided [RCV003737993] Chr5:38506649 [GRCh38]
Chr5:38506751 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.457T>G (p.Leu153Val) single nucleotide variant not provided [RCV003738016] Chr5:38523523 [GRCh38]
Chr5:38523625 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.1438-30AT[5] microsatellite not provided [RCV003721876] Chr5:38502818..38502819 [GRCh38]
Chr5:38502920..38502921 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.1886-17C>G single nucleotide variant not provided [RCV003820458] Chr5:38493802 [GRCh38]
Chr5:38493904 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.3246A>C (p.Gly1082=) single nucleotide variant not provided [RCV003681748] Chr5:38481643 [GRCh38]
Chr5:38481745 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.771A>G (p.Gln257=) single nucleotide variant not provided [RCV003681832] Chr5:38510684 [GRCh38]
Chr5:38510786 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.1886-20A>C single nucleotide variant not provided [RCV003718945] Chr5:38493805 [GRCh38]
Chr5:38493907 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.1281A>T (p.Ile427=) single nucleotide variant not provided [RCV003565995] Chr5:38505915 [GRCh38]
Chr5:38506017 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.1279dup (p.Ile427fs) duplication not provided [RCV003565996] Chr5:38505916..38505917 [GRCh38]
Chr5:38506018..38506019 [GRCh37]
Chr5:5p13.1		 pathogenic
NM_001127671.2(LIFR):c.142+18C>G single nucleotide variant not provided [RCV003686060] Chr5:38530488 [GRCh38]
Chr5:38530590 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.1970A>G (p.Tyr657Cys) single nucleotide variant not provided [RCV003871083] Chr5:38493701 [GRCh38]
Chr5:38493803 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001127671.2(LIFR):c.561+1G>T single nucleotide variant not provided [RCV003684038] Chr5:38523418 [GRCh38]
Chr5:38523520 [GRCh37]
Chr5:5p13.1		 likely pathogenic
NM_001127671.2(LIFR):c.2487A>G (p.Thr829=) single nucleotide variant not provided [RCV003685814] Chr5:38485829 [GRCh38]
Chr5:38485931 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.1291+16A>G single nucleotide variant not provided [RCV003555708] Chr5:38505889 [GRCh38]
Chr5:38505991 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.2670+17T>G single nucleotide variant not provided [RCV003555709] Chr5:38482572 [GRCh38]
Chr5:38482674 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.456A>T (p.Thr152=) single nucleotide variant not provided [RCV003704020] Chr5:38523524 [GRCh38]
Chr5:38523626 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.3174A>C (p.Gly1058=) single nucleotide variant not provided [RCV003550401] Chr5:38481715 [GRCh38]
Chr5:38481817 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.561+20T>A single nucleotide variant not provided [RCV003737415] Chr5:38523399 [GRCh38]
Chr5:38523501 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.1438-16_1438-13del microsatellite not provided [RCV003737433] Chr5:38502812..38502815 [GRCh38]
Chr5:38502914..38502917 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.240A>G (p.Glu80=) single nucleotide variant not provided [RCV003721296] Chr5:38528743 [GRCh38]
Chr5:38528845 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.1672-13C>T single nucleotide variant not provided [RCV003722995] Chr5:38496608 [GRCh38]
Chr5:38496710 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.1438-30AT[4] microsatellite not provided [RCV003738567] Chr5:38502818..38502821 [GRCh38]
Chr5:38502920..38502923 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.1437+17G>A single nucleotide variant not provided [RCV003841156] Chr5:38503959 [GRCh38]
Chr5:38504061 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.1788dup (p.Arg597fs) duplication not provided [RCV003677917] Chr5:38496478..38496479 [GRCh38]
Chr5:38496580..38496581 [GRCh37]
Chr5:5p13.1		 pathogenic
NM_001127671.2(LIFR):c.132_135del (p.Ser44fs) deletion not provided [RCV003704711] Chr5:38530513..38530516 [GRCh38]
Chr5:38530615..38530618 [GRCh37]
Chr5:5p13.1		 pathogenic
NM_001127671.2(LIFR):c.1621dup (p.Thr541fs) duplication not provided [RCV003555185] Chr5:38499562..38499563 [GRCh38]
Chr5:38499664..38499665 [GRCh37]
Chr5:5p13.1		 pathogenic
NM_001127671.2(LIFR):c.1231_1234del (p.Asn411fs) deletion not provided [RCV003555186] Chr5:38505962..38505965 [GRCh38]
Chr5:38506064..38506067 [GRCh37]
Chr5:5p13.1		 pathogenic
NM_001127671.2(LIFR):c.2670+11A>G single nucleotide variant not provided [RCV003730645] Chr5:38482578 [GRCh38]
Chr5:38482680 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.1524G>A (p.Arg508=) single nucleotide variant not provided [RCV003857823] Chr5:38502713 [GRCh38]
Chr5:38502815 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.1246C>T (p.Leu416=) single nucleotide variant not provided [RCV003705929] Chr5:38505950 [GRCh38]
Chr5:38506052 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.2331A>G (p.Glu777=) single nucleotide variant not provided [RCV003863665] Chr5:38489082 [GRCh38]
Chr5:38489184 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001127671.2(LIFR):c.2066-20C>A single nucleotide variant not provided [RCV003681063] Chr5:38490311 [GRCh38]
Chr5:38490413 [GRCh37]
Chr5:5p13.1		 likely benign