LFNG (LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase) - Rat Genome Database

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Gene: LFNG (LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase) Homo sapiens
Analyze
Symbol: LFNG
Name: LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase
RGD ID: 1350319
HGNC Page HGNC:6560
Description: Enables O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity. Involved in regulation of somitogenesis. Located in extracellular vesicle. Implicated in spondylocostal dysostosis 3.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: beta-1,3-N-acetylglucosaminyltransferase lunatic fringe; lunatic fringe homolog (drosophila); SCDO3
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3872,512,529 - 2,529,177 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl72,512,529 - 2,529,177 (+)EnsemblGRCh38hg38GRCh38
GRCh3772,552,163 - 2,568,811 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3672,526,005 - 2,535,337 (+)NCBINCBI36Build 36hg18NCBI36
Build 3472,330,737 - 2,341,302NCBI
Celera72,521,470 - 2,538,114 (+)NCBICelera
Cytogenetic Map7p22.3NCBI
HuRef72,469,979 - 2,486,577 (+)NCBIHuRef
CHM1_172,551,728 - 2,568,392 (+)NCBICHM1_1
T2T-CHM13v2.072,625,971 - 2,642,596 (+)NCBIT2T-CHM13v2.0
CRA_TCAGchr7v272,600,032 - 2,616,654 (+)NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
17beta-estradiol  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
3,3',5,5'-tetrabromobisphenol A  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (EXP)
4-hydroxyphenyl retinamide  (ISO)
5-aza-2'-deoxycytidine  (EXP)
6-propyl-2-thiouracil  (ISO)
acetamide  (ISO)
acrylamide  (EXP)
Aflatoxin B2 alpha  (EXP)
all-trans-retinoic acid  (EXP)
ammonium chloride  (ISO)
aristolochic acid A  (EXP)
arsenous acid  (EXP,ISO)
atrazine  (EXP)
benzo[a]pyrene  (EXP)
benzo[e]pyrene  (EXP)
bis(2-chloroethyl) sulfide  (ISO)
bis(2-ethylhexyl) phthalate  (EXP)
bisphenol A  (EXP,ISO)
bisphenol F  (EXP,ISO)
butanal  (EXP)
butylated hydroxyanisole  (ISO)
calcitriol  (EXP)
cannabidiol  (EXP)
carbon nanotube  (ISO)
chlorpyrifos  (ISO)
cisplatin  (EXP)
clobetasol  (ISO)
copper atom  (EXP)
copper(0)  (EXP)
copper(II) sulfate  (EXP)
dexamethasone  (EXP)
diarsenic trioxide  (EXP,ISO)
dibutyl phthalate  (ISO)
dinophysistoxin 1  (EXP)
dioxygen  (EXP)
diuron  (EXP)
dorsomorphin  (EXP)
ethanol  (ISO)
fluoranthene  (ISO)
folic acid  (ISO)
fulvestrant  (EXP)
genistein  (EXP,ISO)
gentamycin  (ISO)
hydrogen peroxide  (EXP)
indometacin  (EXP)
iron dichloride  (EXP)
lead diacetate  (ISO)
leflunomide  (EXP)
lipopolysaccharide  (ISO)
methapyrilene  (EXP)
methoxyacetic acid  (ISO)
methylmercury chloride  (EXP)
mono(2-ethylhexyl) phthalate  (EXP)
N-Nitrosopyrrolidine  (EXP)
nickel atom  (EXP)
O-methyleugenol  (EXP)
p-chloromercuribenzoic acid  (EXP)
pentanal  (EXP)
phenylmercury acetate  (EXP)
potassium chloride  (EXP)
progesterone  (EXP)
propanal  (EXP)
propionic acid  (EXP)
rotenone  (ISO)
SB 431542  (EXP)
silicon dioxide  (EXP)
sodium arsenite  (EXP)
succimer  (EXP,ISO)
sulforaphane  (EXP)
sulindac  (EXP)
testosterone  (EXP)
thioacetamide  (ISO)
titanium dioxide  (ISO)
trichloroethene  (ISO)
trichostatin A  (EXP)
triclosan  (EXP)
tunicamycin  (EXP)
urethane  (EXP)
valproic acid  (EXP,ISO)
vorinostat  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

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

References - curated
# Reference Title Reference Citation
1. Cell and molecular biology of Notch. Fiuza UM and Arias AM, J Endocrinol. 2007 Sep;194(3):459-74.
2. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
3. A family of mammalian Fringe genes implicated in boundary determination and the Notch pathway. Johnston SH, etal., Development 1997 Jun;124(11):2245-54.
4. Lunatic fringe, FGF, and BMP regulate the Notch pathway during epithelial morphogenesis of teeth. Mustonen T, etal., Dev Biol 2002 Aug 15;248(2):281-93.
5. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
6. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
7. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
8. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
9. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:9878264   PMID:10341080   PMID:10935626   PMID:11346656   PMID:12110169   PMID:12477932   PMID:12486116   PMID:14702039   PMID:16341674   PMID:16385447   PMID:19020755   PMID:19061953  
PMID:20301533   PMID:20301771   PMID:21832049   PMID:21873635   PMID:22624713   PMID:24709423   PMID:24769233   PMID:26186194   PMID:26279302   PMID:27156840   PMID:28938159   PMID:29193607  
PMID:30531807   PMID:33562410   PMID:33894418   PMID:33961781   PMID:37038048  


Genomics

Comparative Map Data
LFNG
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3872,512,529 - 2,529,177 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl72,512,529 - 2,529,177 (+)EnsemblGRCh38hg38GRCh38
GRCh3772,552,163 - 2,568,811 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3672,526,005 - 2,535,337 (+)NCBINCBI36Build 36hg18NCBI36
Build 3472,330,737 - 2,341,302NCBI
Celera72,521,470 - 2,538,114 (+)NCBICelera
Cytogenetic Map7p22.3NCBI
HuRef72,469,979 - 2,486,577 (+)NCBIHuRef
CHM1_172,551,728 - 2,568,392 (+)NCBICHM1_1
T2T-CHM13v2.072,625,971 - 2,642,596 (+)NCBIT2T-CHM13v2.0
CRA_TCAGchr7v272,600,032 - 2,616,654 (+)NCBI
Lfng
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm395140,593,096 - 140,601,300 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl5140,593,075 - 140,601,300 (+)EnsemblGRCm39 Ensembl
GRCm385140,607,341 - 140,615,545 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl5140,607,320 - 140,615,545 (+)EnsemblGRCm38mm10GRCm38
MGSCv375141,083,295 - 141,091,499 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv365140,859,841 - 140,866,960 (+)NCBIMGSCv36mm8
Celera5137,667,846 - 137,675,959 (+)NCBICelera
Cytogenetic Map5G2NCBI
cM Map579.15NCBI
Lfng
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81219,144,474 - 19,152,951 (-)NCBIGRCr8
mRatBN7.21214,030,551 - 14,038,996 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1214,018,333 - 14,039,008 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1214,839,113 - 14,847,134 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01215,462,384 - 15,470,633 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01214,489,324 - 14,497,345 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01216,117,767 - 16,126,211 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1216,118,634 - 16,126,953 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01218,113,805 - 18,123,172 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41214,497,704 - 14,505,723 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11214,527,632 - 14,535,651 (-)NCBI
Celera1215,790,243 - 15,798,262 (-)NCBICelera
Cytogenetic Map12q11NCBI
Lfng
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495546012,773,975 - 12,784,512 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495546012,773,975 - 12,784,512 (-)NCBIChiLan1.0ChiLan1.0
LFNG
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v267,477,996 - 7,487,441 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1755,802,701 - 55,812,142 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v072,781,493 - 2,790,936 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.172,876,721 - 2,884,926 (+)NCBIpanpan1.1PanPan1.1panPan2
LFNG
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1614,631,638 - 14,640,147 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl614,632,691 - 14,635,485 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha616,094,444 - 16,103,246 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0614,757,824 - 14,766,634 (-)NCBIROS_Cfam_1.0
UMICH_Zoey_3.1614,561,780 - 14,570,581 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0614,490,186 - 14,498,963 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0614,776,050 - 14,784,860 (-)NCBIUU_Cfam_GSD_1.0
Lfng
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024409344142,760,468 - 142,768,231 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936823283,205 - 290,986 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936823283,207 - 290,970 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
LFNG
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl31,810,892 - 1,820,048 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.131,721,044 - 1,819,426 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.232,208,304 - 2,267,857 (-)NCBISscrofa10.2Sscrofa10.2susScr3
LFNG
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12819,084,527 - 19,092,305 (-)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_0236660902,679,194 - 2,686,982 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Lfng
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462474030,392,079 - 30,404,068 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462474030,392,342 - 30,404,003 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in LFNG
228 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001040167.2(LFNG):c.197_198delinsTT (p.Ala66Val) indel Spondylocostal dysostosis 3, autosomal recessive [RCV001309923]|not provided [RCV000722463] Chr7:2520058..2520059 [GRCh38]
Chr7:2559692..2559693 [GRCh37]
Chr7:7p22.3		 uncertain significance
NR_178195.1(LFNG):n.265_268GATG[8] microsatellite not provided [RCV000722464]|not specified [RCV001529407] Chr7:2513247..2513248 [GRCh38]
Chr7:2552881..2552882 [GRCh37]
Chr7:7p22.3		 benign|conflicting interpretations of pathogenicity|uncertain significance
NR_178195.1(LFNG):n.265_268GATG[5] microsatellite not provided [RCV000723170] Chr7:2513248..2513255 [GRCh38]
Chr7:2552882..2552889 [GRCh37]
Chr7:7p22.3		 uncertain significance
NM_001040167.2(LFNG):c.653C>T (p.Pro218Leu) single nucleotide variant Spondylocostal dysostosis 3, autosomal recessive [RCV000542197] Chr7:2525485 [GRCh38]
Chr7:2565119 [GRCh37]
Chr7:7p22.3		 likely benign|uncertain significance
NM_001040167.2(LFNG):c.564C>A (p.Phe188Leu) single nucleotide variant Spondylocostal dysostosis 2, autosomal recessive [RCV002269818]|Spondylocostal dysostosis 3, autosomal recessive [RCV000007414] Chr7:2525301 [GRCh38]
Chr7:2564935 [GRCh37]
Chr7:7p22.3		 pathogenic|not provided
GRCh38/hg38 7p22.3-14.1(chr7:54185-41875885)x3 copy number gain See cases [RCV000051159] Chr7:54185..41875885 [GRCh38]
Chr7:54185..41915483 [GRCh37]
Chr7:149268..41882008 [NCBI36]
Chr7:7p22.3-14.1		 pathogenic
GRCh38/hg38 7p22.3-q36.3(chr7:53985-159282531)x1 copy number loss See cases [RCV000052250] Chr7:53985..159282531 [GRCh38]
Chr7:53985..159075220 [GRCh37]
Chr7:149068..158767981 [NCBI36]
Chr7:7p22.3-q36.3		 pathogenic
GRCh38/hg38 7p22.3-22.1(chr7:45130-5880375)x1 copy number loss See cases [RCV000052249] Chr7:45130..5880375 [GRCh38]
Chr7:45130..5920006 [GRCh37]
Chr7:140213..5886532 [NCBI36]
Chr7:7p22.3-22.1		 pathogenic
GRCh38/hg38 7p22.3-22.1(chr7:45130-6270185)x3 copy number gain See cases [RCV000053527] Chr7:45130..6270185 [GRCh38]
Chr7:45130..6309816 [GRCh37]
Chr7:140213..6276341 [NCBI36]
Chr7:7p22.3-22.1		 pathogenic
GRCh38/hg38 7p22.3-15.3(chr7:53985-24361531)x3 copy number gain See cases [RCV000053528] Chr7:53985..24361531 [GRCh38]
Chr7:53985..24401150 [GRCh37]
Chr7:149068..24367675 [NCBI36]
Chr7:7p22.3-15.3		 pathogenic
GRCh38/hg38 7p22.3-21.3(chr7:54185-8274834)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053529]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053529]|See cases [RCV000053529] Chr7:54185..8274834 [GRCh38]
Chr7:54185..8314464 [GRCh37]
Chr7:149268..8280989 [NCBI36]
Chr7:7p22.3-21.3		 pathogenic
GRCh38/hg38 7p22.3-14.2(chr7:54185-37089712)x3 copy number gain See cases [RCV000053530] Chr7:54185..37089712 [GRCh38]
Chr7:54185..37129317 [GRCh37]
Chr7:149268..37095842 [NCBI36]
Chr7:7p22.3-14.2		 pathogenic
GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1 copy number loss See cases [RCV000135401] Chr7:54185..159282390 [GRCh38]
Chr7:54185..159075079 [GRCh37]
Chr7:149268..158767840 [NCBI36]
Chr7:7p22.3-q36.3		 pathogenic
GRCh38/hg38 7p22.3-15.2(chr7:54185-26827634)x3 copy number gain See cases [RCV000136557] Chr7:54185..26827634 [GRCh38]
Chr7:54185..26867253 [GRCh37]
Chr7:149268..26833778 [NCBI36]
Chr7:7p22.3-15.2		 pathogenic
GRCh38/hg38 7p22.3-22.2(chr7:54185-3324143)x1 copy number loss See cases [RCV000136789] Chr7:54185..3324143 [GRCh38]
Chr7:54185..3363775 [GRCh37]
Chr7:149268..3330301 [NCBI36]
Chr7:7p22.3-22.2		 pathogenic
GRCh38/hg38 7p22.3(chr7:1330987-2530644)x1 copy number loss See cases [RCV000136673] Chr7:1330987..2530644 [GRCh38]
Chr7:1370623..2570278 [GRCh37]
Chr7:1337149..2536804 [NCBI36]
Chr7:7p22.3		 uncertain significance
GRCh38/hg38 7p22.3-22.1(chr7:54185-6638027)x3 copy number gain See cases [RCV000136731] Chr7:54185..6638027 [GRCh38]
Chr7:54185..6677658 [GRCh37]
Chr7:149268..6644183 [NCBI36]
Chr7:7p22.3-22.1		 pathogenic
GRCh38/hg38 7p22.3-21.3(chr7:45130-7252065)x3 copy number gain See cases [RCV000137524] Chr7:45130..7252065 [GRCh38]
Chr7:45130..7291696 [GRCh37]
Chr7:140213..7258221 [NCBI36]
Chr7:7p22.3-21.3		 pathogenic
GRCh38/hg38 7p22.3(chr7:1085248-2530644)x4 copy number gain See cases [RCV000137818] Chr7:1085248..2530644 [GRCh38]
Chr7:1124884..2570278 [GRCh37]
Chr7:1091410..2536804 [NCBI36]
Chr7:7p22.3		 uncertain significance
GRCh38/hg38 7p22.3-15.3(chr7:45130-25221165)x3 copy number gain See cases [RCV000137824] Chr7:45130..25221165 [GRCh38]
Chr7:45130..25260784 [GRCh37]
Chr7:140213..25227309 [NCBI36]
Chr7:7p22.3-15.3		 pathogenic
GRCh38/hg38 7p22.3(chr7:2469943-2566182)x3 copy number gain See cases [RCV000139864] Chr7:2469943..2566182 [GRCh38]
Chr7:2509578..2605816 [GRCh37]
Chr7:2476104..2572342 [NCBI36]
Chr7:7p22.3		 uncertain significance
GRCh38/hg38 7p22.3-15.2(chr7:1698124-27207295)x3 copy number gain See cases [RCV000143060] Chr7:1698124..27207295 [GRCh38]
Chr7:1737760..27246914 [GRCh37]
Chr7:1704286..27213439 [NCBI36]
Chr7:7p22.3-15.2		 pathogenic
GRCh38/hg38 7p22.3-22.2(chr7:54165-3258775)x1 copy number loss See cases [RCV000142995] Chr7:54165..3258775 [GRCh38]
Chr7:54165..3298407 [GRCh37]
Chr7:149248..3264933 [NCBI36]
Chr7:7p22.3-22.2		 pathogenic
GRCh38/hg38 7p22.3-22.2(chr7:45130-3406236)x3 copy number gain See cases [RCV000143175] Chr7:45130..3406236 [GRCh38]
Chr7:45130..3445868 [GRCh37]
Chr7:140213..3412394 [NCBI36]
Chr7:7p22.3-22.2		 uncertain significance
GRCh38/hg38 7p22.3(chr7:2031462-2653470)x3 copy number gain See cases [RCV000143263] Chr7:2031462..2653470 [GRCh38]
Chr7:2071097..2693104 [GRCh37]
Chr7:2037623..2659630 [NCBI36]
Chr7:7p22.3		 likely benign|uncertain significance
GRCh38/hg38 7p22.3-15.2(chr7:43360-27196404)x3 copy number gain See cases [RCV000143586] Chr7:43360..27196404 [GRCh38]
Chr7:43360..27236023 [GRCh37]
Chr7:138443..27202548 [NCBI36]
Chr7:7p22.3-15.2		 pathogenic
GRCh37/hg19 7p22.3-22.2(chr7:1004794-4063934)x4 copy number gain See cases [RCV000240233] Chr7:1004794..4063934 [GRCh37]
Chr7:7p22.3-22.2		 uncertain significance
GRCh37/hg19 7p22.3-q36.3(chr7:43360-159119707)x1 copy number loss See cases [RCV000446044] Chr7:43360..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
NM_001040167.2(LFNG):c.672C>T (p.Tyr224=) single nucleotide variant Spondylocostal dysostosis 3, autosomal recessive [RCV001429628]|not specified [RCV000251003] Chr7:2525504 [GRCh38]
Chr7:2565138 [GRCh37]
Chr7:7p22.3		 likely benign
NM_001040167.2(LFNG):c.972G>A (p.Ser324=) single nucleotide variant Spondylocostal dysostosis 3, autosomal recessive [RCV001511206]|not provided [RCV001675700]|not specified [RCV000251108] Chr7:2526394 [GRCh38]
Chr7:2566028 [GRCh37]
Chr7:7p22.3		 benign
NM_001040167.2(LFNG):c.481+3G>A single nucleotide variant LFNG-related condition [RCV003891883]|Spondylocostal dysostosis 3, autosomal recessive [RCV000966483] Chr7:2524746 [GRCh38]
Chr7:2564380 [GRCh37]
Chr7:7p22.3		 benign|likely benign
NM_001040167.2(LFNG):c.988-37G>A single nucleotide variant not provided [RCV001610604]|not specified [RCV000242432] Chr7:2526799 [GRCh38]
Chr7:2566433 [GRCh37]
Chr7:7p22.3		 benign
NM_001040167.2(LFNG):c.1002C>T (p.Tyr334=) single nucleotide variant Spondylocostal dysostosis 3, autosomal recessive [RCV001523654]|not provided [RCV001640505]|not specified [RCV000244913] Chr7:2526850 [GRCh38]
Chr7:2566484 [GRCh37]
Chr7:7p22.3		 benign
NM_001040167.2(LFNG):c.612C>T (p.Tyr204=) single nucleotide variant Spondylocostal dysostosis 3, autosomal recessive [RCV002057430]|not specified [RCV000245028] Chr7:2525444 [GRCh38]
Chr7:2565078 [GRCh37]
Chr7:7p22.3		 benign|likely benign
NM_001040167.2(LFNG):c.736-36C>T single nucleotide variant not provided [RCV001636758]|not specified [RCV000242794] Chr7:2525649 [GRCh38]
Chr7:2565283 [GRCh37]
Chr7:7p22.3		 benign
NM_001040167.2(LFNG):c.822-38C>T single nucleotide variant not provided [RCV001683001]|not specified [RCV000247977] Chr7:2526206 [GRCh38]
Chr7:2565840 [GRCh37]
Chr7:7p22.3		 benign
NM_001040167.2(LFNG):c.482-4A>G single nucleotide variant Spondylocostal dysostosis 3, autosomal recessive [RCV000560182]|not provided [RCV001683000]|not specified [RCV000253235] Chr7:2525215 [GRCh38]
Chr7:2564849 [GRCh37]
Chr7:7p22.3		 benign
NM_001040167.2(LFNG):c.573C>T (p.Ser191=) single nucleotide variant Spondylocostal dysostosis 3, autosomal recessive [RCV001079317]|not provided [RCV000354179] Chr7:2525310 [GRCh38]
Chr7:2564944 [GRCh37]
Chr7:7p22.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001040167.2(LFNG):c.774C>T (p.Gly258=) single nucleotide variant LFNG-related condition [RCV003977793]|not provided [RCV000329711] Chr7:2525723 [GRCh38]
Chr7:2565357 [GRCh37]
Chr7:7p22.3		 likely benign|uncertain significance
NM_001040167.2(LFNG):c.218G>A (p.Ser73Asn) single nucleotide variant Inborn genetic diseases [RCV003268915] Chr7:2520079 [GRCh38]
Chr7:2559713 [GRCh37]
Chr7:7p22.3		 uncertain significance
NM_001040167.2(LFNG):c.643G>A (p.Ala215Thr) single nucleotide variant Spondylocostal dysostosis 3, autosomal recessive [RCV000527466] Chr7:2525475 [GRCh38]
Chr7:2565109 [GRCh37]
Chr7:7p22.3		 uncertain significance
NM_001040167.2(LFNG):c.735+9C>T single nucleotide variant Spondylocostal dysostosis 3, autosomal recessive [RCV001088760]|not provided [RCV000591938] Chr7:2525576 [GRCh38]
Chr7:2565210 [GRCh37]
Chr7:7p22.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001040167.2(LFNG):c.1036G>C (p.Val346Leu) single nucleotide variant Inborn genetic diseases [RCV002531026]|Spondylocostal dysostosis 3, autosomal recessive [RCV001469266]|not provided [RCV000591962] Chr7:2526884 [GRCh38]
Chr7:2566518 [GRCh37]
Chr7:7p22.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001040167.2(LFNG):c.691G>A (p.Asp231Asn) single nucleotide variant Inborn genetic diseases [RCV002531024]|not provided [RCV000592521] Chr7:2525523 [GRCh38]
Chr7:2565157 [GRCh37]
Chr7:7p22.3		 uncertain significance
NM_001040167.2(LFNG):c.723C>T (p.Ser241=) single nucleotide variant LFNG-related condition [RCV003945618]|Spondylocostal dysostosis 3, autosomal recessive [RCV002530005] Chr7:2525555 [GRCh38]
Chr7:2565189 [GRCh37]
Chr7:7p22.3		 likely benign
NM_001040167.2(LFNG):c.427_429del (p.Glu143del) deletion not provided [RCV000592125] Chr7:2520286..2520288 [GRCh38]
Chr7:2559920..2559922 [GRCh37]
Chr7:7p22.3		 uncertain significance
NM_001040167.2(LFNG):c.327G>T (p.Pro109=) single nucleotide variant Spondylocostal dysostosis 3, autosomal recessive [RCV001449422]|not provided [RCV000728394] Chr7:2520188 [GRCh38]
Chr7:2559822 [GRCh37]
Chr7:7p22.3		 likely benign|uncertain significance
NM_001040167.2(LFNG):c.507G>A (p.Ser169=) single nucleotide variant not provided [RCV000728718] Chr7:2525244 [GRCh38]
Chr7:2564878 [GRCh37]
Chr7:7p22.3		 uncertain significance
GRCh37/hg19 7p22.3-22.1(chr7:43360-5443709)x3 copy number gain See cases [RCV000449281] Chr7:43360..5443709 [GRCh37]
Chr7:7p22.3-22.1		 pathogenic
GRCh37/hg19 7p22.3-21.3(chr7:183556-12746636)x3 copy number gain See cases [RCV000449446] Chr7:183556..12746636 [GRCh37]
Chr7:7p22.3-21.3		 pathogenic
GRCh37/hg19 7p22.3-21.1(chr7:43360-17656861)x3 copy number gain See cases [RCV000449347] Chr7:43360..17656861 [GRCh37]
Chr7:7p22.3-21.1		 pathogenic
GRCh37/hg19 7p22.3-22.2(chr7:43360-2825753)x3 copy number gain See cases [RCV000447222] Chr7:43360..2825753 [GRCh37]
Chr7:7p22.3-22.2		 likely pathogenic
NR_178195.1(LFNG):n.265_268GATG[6] microsatellite not provided [RCV001572790]|not specified [RCV000455761] Chr7:2513248..2513251 [GRCh38]
Chr7:2552882..2552885 [GRCh37]
Chr7:7p22.3		 benign|likely benign
GRCh37/hg19 7p22.3-15.3(chr7:43360-23674928)x3 copy number gain See cases [RCV000510652] Chr7:43360..23674928 [GRCh37]
Chr7:7p22.3-15.3		 pathogenic
GRCh37/hg19 7p22.3-14.3(chr7:704573-29257946)x3 copy number gain See cases [RCV000510275] Chr7:704573..29257946 [GRCh37]
Chr7:7p22.3-14.3		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707) copy number gain See cases [RCV000510686] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7p22.3-22.2(chr7:43360-3642604)x1 copy number loss See cases [RCV000511648] Chr7:43360..3642604 [GRCh37]
Chr7:7p22.3-22.2		 pathogenic
GRCh37/hg19 7p22.3-22.2(chr7:2408769-2987197)x3 copy number gain See cases [RCV000512034] Chr7:2408769..2987197 [GRCh37]
Chr7:7p22.3-22.2		 uncertain significance
GRCh37/hg19 7p22.3-21.2(chr7:43360-14664158)x3 copy number gain See cases [RCV000511772] Chr7:43360..14664158 [GRCh37]
Chr7:7p22.3-21.2		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3 copy number gain See cases [RCV000511549] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7p22.3-21.3(chr7:43360-12098696)x3 copy number gain See cases [RCV000510950] Chr7:43360..12098696 [GRCh37]
Chr7:7p22.3-21.3		 pathogenic
NM_001040167.2(LFNG):c.84GCC[4] (p.Pro32dup) microsatellite not provided [RCV000595316] Chr7:2519942..2519943 [GRCh38]
Chr7:2559576..2559577 [GRCh37]
Chr7:7p22.3		 uncertain significance
GRCh37/hg19 7p22.3-21.3(chr7:43360-11567351)x3 copy number gain See cases [RCV000512505] Chr7:43360..11567351 [GRCh37]
Chr7:7p22.3-21.3		 pathogenic
GRCh37/hg19 7p22.3-22.1(chr7:1201674-5175651)x1 copy number loss See cases [RCV000512351] Chr7:1201674..5175651 [GRCh37]
Chr7:7p22.3-22.1		 pathogenic
NM_001040167.2(LFNG):c.266G>A (p.Gly89Asp) single nucleotide variant not provided [RCV000659068] Chr7:2520127 [GRCh38]
Chr7:2559761 [GRCh37]
Chr7:7p22.3		 uncertain significance
GRCh37/hg19 7p22.3(chr7:2219184-2612472)x1 copy number loss not provided [RCV000682839] Chr7:2219184..2612472 [GRCh37]
Chr7:7p22.3		 likely pathogenic
GRCh37/hg19 7p22.3(chr7:2363275-2707822)x3 copy number gain not provided [RCV000682831] Chr7:2363275..2707822 [GRCh37]
Chr7:7p22.3		 uncertain significance
NM_001040167.2(LFNG):c.601G>A (p.Asp201Asn) single nucleotide variant Spondylocostal dysostosis 3, autosomal recessive [RCV000758081] Chr7:2525433 [GRCh38]
Chr7:2565067 [GRCh37]
Chr7:7p22.3		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:44935-159126310)x3 copy number gain not provided [RCV000746280] Chr7:44935..159126310 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:10704-159122532)x3 copy number gain not provided [RCV000746278] Chr7:10704..159122532 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7p22.3(chr7:2268970-2600076)x3 copy number gain not provided [RCV000746334] Chr7:2268970..2600076 [GRCh37]
Chr7:7p22.3		 benign
GRCh37/hg19 7p22.3(chr7:2542296-2581814)x3 copy number gain not provided [RCV000746335] Chr7:2542296..2581814 [GRCh37]
Chr7:7p22.3		 benign
GRCh37/hg19 7p22.3(chr7:2557266-2581814)x3 copy number gain not provided [RCV000746336] Chr7:2557266..2581814 [GRCh37]
Chr7:7p22.3		 benign
GRCh37/hg19 7p22.3(chr7:2560777-2579181)x3 copy number gain not provided [RCV000746337] Chr7:2560777..2579181 [GRCh37]
Chr7:7p22.3		 benign
GRCh37/hg19 7p22.3(chr7:2560777-2579467)x3 copy number gain not provided [RCV000746338] Chr7:2560777..2579467 [GRCh37]
Chr7:7p22.3		 benign
GRCh37/hg19 7p22.3(chr7:2560777-2581814)x3 copy number gain not provided [RCV000746339] Chr7:2560777..2581814 [GRCh37]
Chr7:7p22.3		 benign
GRCh37/hg19 7p22.3(chr7:2565119-2579181)x3 copy number gain not provided [RCV000746340] Chr7:2565119..2579181 [GRCh37]
Chr7:7p22.3		 benign
GRCh37/hg19 7p22.3(chr7:2565119-2579467)x3 copy number gain not provided [RCV000746341] Chr7:2565119..2579467 [GRCh37]
Chr7:7p22.3		 benign
GRCh37/hg19 7p22.3(chr7:2565119-2579497)x3 copy number gain not provided [RCV000746342] Chr7:2565119..2579497 [GRCh37]
Chr7:7p22.3		 benign
GRCh37/hg19 7p22.3-21.3(chr7:10239-13116278)x3 copy number gain not provided [RCV000746277] Chr7:10239..13116278 [GRCh37]
Chr7:7p22.3-21.3		 pathogenic
NM_001040167.2(LFNG):c.372del (p.Lys124fs) deletion Spondylocostal dysostosis 3, autosomal recessive [RCV000758082] Chr7:2520233 [GRCh38]
Chr7:2559867 [GRCh37]
Chr7:7p22.3		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3 copy number gain not provided [RCV000848126] Chr7:10365..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
NM_001040167.2(LFNG):c.870C>T (p.Asp290=) single nucleotide variant Spondylocostal dysostosis 3, autosomal recessive [RCV002540190] Chr7:2526292 [GRCh38]
Chr7:2565926 [GRCh37]
Chr7:7p22.3		 likely benign
NM_001040167.2(LFNG):c.609C>T (p.Asn203=) single nucleotide variant Spondylocostal dysostosis 3, autosomal recessive [RCV002544939] Chr7:2525441 [GRCh38]
Chr7:2565075 [GRCh37]
Chr7:7p22.3		 likely benign
NM_001040167.2(LFNG):c.1036G>A (p.Val346Met) single nucleotide variant Spondylocostal dysostosis 3, autosomal recessive [RCV000968076] Chr7:2526884 [GRCh38]
Chr7:2566518 [GRCh37]
Chr7:7p22.3		 likely benign
NM_001040167.2(LFNG):c.920G>A (p.Arg307His) single nucleotide variant Spondylocostal dysostosis 3, autosomal recessive [RCV000903191] Chr7:2526342 [GRCh38]
Chr7:2565976 [GRCh37]
Chr7:7p22.3		 benign
NM_001040167.2(LFNG):c.581+9G>T single nucleotide variant Spondylocostal dysostosis 3, autosomal recessive [RCV001490095] Chr7:2525327 [GRCh38]
Chr7:2564961 [GRCh37]
Chr7:7p22.3		 likely benign
NM_001040167.2(LFNG):c.667G>A (p.Val223Ile) single nucleotide variant LFNG-related condition [RCV003928629]|Spondylocostal dysostosis 3, autosomal recessive [RCV000983905] Chr7:2525499 [GRCh38]
Chr7:2565133 [GRCh37]
Chr7:7p22.3		 likely benign
NM_001040167.2(LFNG):c.821+8C>T single nucleotide variant Spondylocostal dysostosis 3, autosomal recessive [RCV002066113] Chr7:2525778 [GRCh38]
Chr7:2565412 [GRCh37]
Chr7:7p22.3		 likely benign
NM_001040167.2(LFNG):c.715C>T (p.Arg239Trp) single nucleotide variant Inborn genetic diseases [RCV002536019]|Spondylocostal dysostosis 3, autosomal recessive [RCV000824379] Chr7:2525547 [GRCh38]
Chr7:2565181 [GRCh37]
Chr7:7p22.3		 uncertain significance
NM_001040167.2(LFNG):c.357C>G (p.Val119=) single nucleotide variant not provided [RCV000915502] Chr7:2520218 [GRCh38]
Chr7:2559852 [GRCh37]
Chr7:7p22.3		 likely benign
NM_001040167.2(LFNG):c.1013A>T (p.Glu338Val) single nucleotide variant Spondylocostal dysostosis 3, autosomal recessive [RCV000819422] Chr7:2526861 [GRCh38]
Chr7:2566495 [GRCh37]
Chr7:7p22.3		 uncertain significance
GRCh37/hg19 7p22.3-22.2(chr7:36616-4298168)x1 copy number loss not provided [RCV000849273] Chr7:36616..4298168 [GRCh37]
Chr7:7p22.3-22.2		 pathogenic
GRCh37/hg19 7p22.3-21.1(chr7:43376-19520619)x3 copy number gain not provided [RCV000848100] Chr7:43376..19520619 [GRCh37]
Chr7:7p22.3-21.1		 pathogenic
NM_001040167.2(LFNG):c.1021C>T (p.Arg341Trp) single nucleotide variant Inborn genetic diseases [RCV002568681]|Spondylocostal dysostosis 3, autosomal recessive [RCV001247728]|not provided [RCV001796413] Chr7:2526869 [GRCh38]
Chr7:2566503 [GRCh37]
Chr7:7p22.3		 likely benign|uncertain significance
NM_001040167.2(LFNG):c.713A>T (p.Glu238Val) single nucleotide variant Inborn genetic diseases [RCV003250182] Chr7:2525545 [GRCh38]
Chr7:2565179 [GRCh37]
Chr7:7p22.3		 uncertain significance
NM_001166355.2(LFNG):c.219+24A>C single nucleotide variant not provided [RCV001608431] Chr7:2513352 [GRCh38]
Chr7:2552986 [GRCh37]
Chr7:7p22.3		 benign
NM_001040167.2(LFNG):c.822-210A>C single nucleotide variant not provided [RCV001586427] Chr7:2526034 [GRCh38]
Chr7:2565668 [GRCh37]
Chr7:7p22.3		 likely benign
NC_000007.14:g.2512345G>C single nucleotide variant not provided [RCV001577518] Chr7:2512345 [GRCh38]
Chr7:2551979 [GRCh37]
Chr7:7p22.3		 likely benign
NM_001040167.2(LFNG):c.987+10C>T single nucleotide variant not provided [RCV000895712] Chr7:2526419 [GRCh38]
Chr7:2566053 [GRCh37]
Chr7:7p22.3		 likely benign
NM_001040167.2(LFNG):c.312C>T (p.Arg104=) single nucleotide variant Spondylocostal dysostosis 3, autosomal recessive [RCV002065485] Chr7:2520173 [GRCh38]
Chr7:2559807 [GRCh37]
Chr7:7p22.3		 likely benign
NM_001040167.2(LFNG):c.582-10T>C single nucleotide variant Spondylocostal dysostosis 3, autosomal recessive [RCV000909369] Chr7:2525404 [GRCh38]
Chr7:2565038 [GRCh37]
Chr7:7p22.3		 likely benign
NM_001040167.2(LFNG):c.768C>T (p.Gly256=) single nucleotide variant Spondylocostal dysostosis 3, autosomal recessive [RCV000901735] Chr7:2525717 [GRCh38]
Chr7:2565351 [GRCh37]
Chr7:7p22.3		 likely benign
NM_001040167.2(LFNG):c.25C>T (p.Leu9=) single nucleotide variant not provided [RCV000924426] Chr7:2519886 [GRCh38]
Chr7:2559520 [GRCh37]
Chr7:7p22.3		 likely benign
NM_001040167.2(LFNG):c.1104G>A (p.Pro368=) single nucleotide variant Spondylocostal dysostosis 3, autosomal recessive [RCV000887809] Chr7:2527176 [GRCh38]
Chr7:2566810 [GRCh37]
Chr7:7p22.3		 benign
NM_001040167.2(LFNG):c.6C>A (p.Leu2=) single nucleotide variant Spondylocostal dysostosis 3, autosomal recessive [RCV000906893] Chr7:2519867 [GRCh38]
Chr7:2559501 [GRCh37]
Chr7:7p22.3		 likely benign
NM_001040167.2(LFNG):c.1053G>A (p.Ser351=) single nucleotide variant Spondylocostal dysostosis 3, autosomal recessive [RCV003505147] Chr7:2526901 [GRCh38]
Chr7:2566535 [GRCh37]
Chr7:7p22.3		 likely benign
NM_001040167.2(LFNG):c.736-51C>A single nucleotide variant not provided [RCV001695610] Chr7:2525634 [GRCh38]
Chr7:2565268 [GRCh37]
Chr7:7p22.3		 benign
GRCh37/hg19 7p22.3-21.3(chr7:1648373-10627513)x3 copy number gain not provided [RCV001005891] Chr7:1648373..10627513 [GRCh37]
Chr7:7p22.3-21.3		 pathogenic
NM_001040167.2(LFNG):c.433-291G>A single nucleotide variant not provided [RCV001637252] Chr7:2524404 [GRCh38]
Chr7:2564038 [GRCh37]
Chr7:7p22.3		 benign
NM_001040167.2(LFNG):c.432+281C>G single nucleotide variant not provided [RCV001608501] Chr7:2520574 [GRCh38]
Chr7:2560208 [GRCh37]
Chr7:7p22.3		 benign
NM_001166355.2(LFNG):c.47+46G>A single nucleotide variant not provided [RCV001597906] Chr7:2512747 [GRCh38]
Chr7:2552381 [GRCh37]
Chr7:7p22.3		 benign
NM_001040168.2(LFNG):c.1074-104C>T single nucleotide variant not provided [RCV001571822] Chr7:2528770 [GRCh38]
Chr7:2568404 [GRCh37]
Chr7:7p22.3		 likely benign
NM_001040167.2(LFNG):c.*121_*125TG[2]CATGTGC[1] microsatellite not provided [RCV001617397] Chr7:2527332..2527333 [GRCh38]
Chr7:2566966..2566967 [GRCh37]
Chr7:7p22.3		 benign
NM_001166355.2(LFNG):c.219+68T>C single nucleotide variant not provided [RCV001678732] Chr7:2513396 [GRCh38]
Chr7:2553030 [GRCh37]
Chr7:7p22.3		 benign
NM_001166355.2(LFNG):c.219+261A>G single nucleotide variant not provided [RCV001693263] Chr7:2513589 [GRCh38]
Chr7:2553223 [GRCh37]
Chr7:7p22.3		 benign
NM_001040167.2(LFNG):c.*126_*130GT[2]GCGTGTGTG[1] microsatellite not provided [RCV001694194] Chr7:2527337..2527338 [GRCh38]
Chr7:2566971..2566972 [GRCh37]
Chr7:7p22.3		 benign
NM_001040167.2(LFNG):c.735+33C>T single nucleotide variant not provided [RCV001587833] Chr7:2525600 [GRCh38]
Chr7:2565234 [GRCh37]
Chr7:7p22.3		 likely benign
NM_001040168.2(LFNG):c.*149G>A single nucleotide variant not provided [RCV001694603] Chr7:2529035 [GRCh38]
Chr7:2568669 [GRCh37]
Chr7:7p22.3		 benign
NM_001040167.2(LFNG):c.266G>T (p.Gly89Val) single nucleotide variant Inborn genetic diseases [RCV003160428]|Spondylocostal dysostosis 3, autosomal recessive [RCV001054153] Chr7:2520127 [GRCh38]
Chr7:2559761 [GRCh37]
Chr7:7p22.3		 uncertain significance
NM_001040167.2(LFNG):c.1003G>A (p.Gly335Ser) single nucleotide variant Spondylocostal dysostosis 3, autosomal recessive [RCV001219926] Chr7:2526851 [GRCh38]
Chr7:2566485 [GRCh37]
Chr7:7p22.3		 uncertain significance
NM_001040167.2(LFNG):c.546C>T (p.Ala182=) single nucleotide variant LFNG-related condition [RCV003908426]|Spondylocostal dysostosis 3, autosomal recessive [RCV003505166]|not provided [RCV001171982] Chr7:2525283 [GRCh38]
Chr7:2564917 [GRCh37]
Chr7:7p22.3		 likely benign
GRCh37/hg19 7p22.3(chr7:2155103-2629996)x3 copy number gain not provided [RCV001259993] Chr7:2155103..2629996 [GRCh37]
Chr7:7p22.3		 uncertain significance
GRCh37/hg19 7p22.3(chr7:2169252-2577781)x3 copy number gain not provided [RCV001259994] Chr7:2169252..2577781 [GRCh37]
Chr7:7p22.3		 uncertain significance
GRCh37/hg19 7p22.3(chr7:2082065-2669221)x3 copy number gain not provided [RCV001259998] Chr7:2082065..2669221 [GRCh37]
Chr7:7p22.3		 uncertain significance
Single allele complex Ring chromosome 7 [RCV002280646] Chr7:43360..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
NM_001040167.2(LFNG):c.527C>T (p.Ala176Val) single nucleotide variant Spondylocostal dysostosis 3, autosomal recessive [RCV001262452] Chr7:2525264 [GRCh38]
Chr7:2564898 [GRCh37]
Chr7:7p22.3		 uncertain significance
NM_001040167.2(LFNG):c.307C>G (p.Pro103Ala) single nucleotide variant Spondylocostal dysostosis 3, autosomal recessive [RCV001318203] Chr7:2520168 [GRCh38]
Chr7:2559802 [GRCh37]
Chr7:7p22.3		 uncertain significance
NM_001040167.2(LFNG):c.295G>A (p.Ala99Thr) single nucleotide variant Spondylocostal dysostosis 3, autosomal recessive [RCV001340335]|not provided [RCV003234051] Chr7:2520156 [GRCh38]
Chr7:2559790 [GRCh37]
Chr7:7p22.3		 uncertain significance
NM_001040167.2(LFNG):c.100C>A (p.Pro34Thr) single nucleotide variant Spondylocostal dysostosis 3, autosomal recessive [RCV001343751] Chr7:2519961 [GRCh38]
Chr7:2559595 [GRCh37]
Chr7:7p22.3		 uncertain significance
NC_000007.13:g.(?_2559496)_(2594065_?)dup duplication Neonatal-onset encephalopathy with rigidity and seizures [RCV001363062] Chr7:2559496..2594065 [GRCh37]
Chr7:7p22.3		 uncertain significance
NM_001040167.2(LFNG):c.1026C>T (p.Asn342=) single nucleotide variant Spondylocostal dysostosis 3, autosomal recessive [RCV001422143] Chr7:2526874 [GRCh38]
Chr7:2566508 [GRCh37]
Chr7:7p22.3		 likely benign
NM_001040167.2(LFNG):c.559C>T (p.Arg187Cys) single nucleotide variant Inborn genetic diseases [RCV003169928]|Spondylocostal dysostosis 3, autosomal recessive [RCV001374237]|not provided [RCV001773739] Chr7:2525296 [GRCh38]
Chr7:2564930 [GRCh37]
Chr7:7p22.3		 uncertain significance
NM_001040167.2(LFNG):c.480G>A (p.Thr160=) single nucleotide variant LFNG-related condition [RCV003963266]|Spondylocostal dysostosis 3, autosomal recessive [RCV001395965] Chr7:2524742 [GRCh38]
Chr7:2564376 [GRCh37]
Chr7:7p22.3		 likely benign
NM_001040167.2(LFNG):c.1059G>A (p.Glu353=) single nucleotide variant Spondylocostal dysostosis 3, autosomal recessive [RCV001396228] Chr7:2526907 [GRCh38]
Chr7:2566541 [GRCh37]
Chr7:7p22.3		 likely benign
NM_001040167.2(LFNG):c.788G>A (p.Arg263His) single nucleotide variant Spondylocostal dysostosis 3, autosomal recessive [RCV001372882] Chr7:2525737 [GRCh38]
Chr7:2565371 [GRCh37]
Chr7:7p22.3		 uncertain significance
NM_001040167.2(LFNG):c.766G>A (p.Gly256Ser) single nucleotide variant Spondylocostal dysostosis 3, autosomal recessive [RCV001300068] Chr7:2525715 [GRCh38]
Chr7:2565349 [GRCh37]
Chr7:7p22.3		 uncertain significance
NM_001040167.2(LFNG):c.557A>G (p.Asp186Gly) single nucleotide variant Spondylocostal dysostosis 3, autosomal recessive [RCV001338670] Chr7:2525294 [GRCh38]
Chr7:2564928 [GRCh37]
Chr7:7p22.3		 uncertain significance
NM_001040167.2(LFNG):c.131G>T (p.Ser44Ile) single nucleotide variant Spondylocostal dysostosis 3, autosomal recessive [RCV001349439] Chr7:2519992 [GRCh38]
Chr7:2559626 [GRCh37]
Chr7:7p22.3		 uncertain significance
NM_001040167.2(LFNG):c.842C>T (p.Thr281Met) single nucleotide variant Inborn genetic diseases [RCV002547430]|Spondylocostal dysostosis 3, autosomal recessive [RCV001344004] Chr7:2526264 [GRCh38]
Chr7:2565898 [GRCh37]
Chr7:7p22.3		 uncertain significance
NM_001040167.2(LFNG):c.521G>A (p.Arg174His) single nucleotide variant Spondylocostal dysostosis 3, autosomal recessive [RCV001372170] Chr7:2525258 [GRCh38]
Chr7:2564892 [GRCh37]
Chr7:7p22.3		 uncertain significance
NM_001040167.2(LFNG):c.37C>G (p.Leu13Val) single nucleotide variant Spondylocostal dysostosis 3, autosomal recessive [RCV001341762] Chr7:2519898 [GRCh38]
Chr7:2559532 [GRCh37]
Chr7:7p22.3		 uncertain significance
NM_001040167.2(LFNG):c.308C>T (p.Pro103Leu) single nucleotide variant Spondylocostal dysostosis 3, autosomal recessive [RCV001366356] Chr7:2520169 [GRCh38]
Chr7:2559803 [GRCh37]
Chr7:7p22.3		 uncertain significance
NM_001040167.2(LFNG):c.1124G>A (p.Arg375His) single nucleotide variant Spondylocostal dysostosis 3, autosomal recessive [RCV001368871] Chr7:2527196 [GRCh38]
Chr7:2566830 [GRCh37]
Chr7:7p22.3		 uncertain significance
NM_001040167.2(LFNG):c.57C>T (p.Ala19=) single nucleotide variant Spondylocostal dysostosis 3, autosomal recessive [RCV001410167] Chr7:2519918 [GRCh38]
Chr7:2559552 [GRCh37]
Chr7:7p22.3		 likely benign
NM_001166355.2(LFNG):c.219+221G>A single nucleotide variant not provided [RCV001535137] Chr7:2513549 [GRCh38]
Chr7:2553183 [GRCh37]
Chr7:7p22.3		 benign
NM_001040167.2(LFNG):c.924C>T (p.Ser308=) single nucleotide variant Spondylocostal dysostosis 3, autosomal recessive [RCV001427404] Chr7:2526346 [GRCh38]
Chr7:2565980 [GRCh37]
Chr7:7p22.3		 likely benign
NM_001040167.2(LFNG):c.*113CGTGTG[4] microsatellite not provided [RCV001715510] Chr7:2527320..2527321 [GRCh38]
Chr7:2566954..2566955 [GRCh37]
Chr7:7p22.3		 benign
NC_000007.14:g.2512229G>A single nucleotide variant not provided [RCV001684411] Chr7:2512229 [GRCh38]
Chr7:2551863 [GRCh37]
Chr7:7p22.3		 benign
NM_001040168.2(LFNG):c.*250T>C single nucleotide variant not provided [RCV001654428] Chr7:2529136 [GRCh38]
Chr7:2568770 [GRCh37]
Chr7:7p22.3		 benign
NM_001040167.2(LFNG):c.432+19G>T single nucleotide variant Spondylocostal dysostosis 3, autosomal recessive [RCV001466780] Chr7:2520312 [GRCh38]
Chr7:2559946 [GRCh37]
Chr7:7p22.3		 likely benign
NM_001040167.2(LFNG):c.75C>T (p.Thr25=) single nucleotide variant LFNG-related condition [RCV003948507]|Spondylocostal dysostosis 3, autosomal recessive [RCV001513035] Chr7:2519936 [GRCh38]
Chr7:2559570 [GRCh37]
Chr7:7p22.3		 benign
NC_000007.13:g.(?_2552269)_(2998160_?)del deletion Severe combined immunodeficiency due to CARD11 deficiency [RCV001387909] Chr7:2552269..2998160 [GRCh37]
Chr7:7p22.3-22.2		 pathogenic
NM_001040167.2(LFNG):c.600C>T (p.Asp200=) single nucleotide variant Spondylocostal dysostosis 3, autosomal recessive [RCV001460468] Chr7:2525432 [GRCh38]
Chr7:2565066 [GRCh37]
Chr7:7p22.3		 likely benign
NM_001040167.2(LFNG):c.402G>T (p.Leu134=) single nucleotide variant Spondylocostal dysostosis 3, autosomal recessive [RCV001466315] Chr7:2520263 [GRCh38]
Chr7:2559897 [GRCh37]
Chr7:7p22.3		 likely benign
NM_001040167.2(LFNG):c.213G>A (p.Val71=) single nucleotide variant Spondylocostal dysostosis 3, autosomal recessive [RCV001485349] Chr7:2520074 [GRCh38]
Chr7:2559708 [GRCh37]
Chr7:7p22.3		 likely benign
NC_000007.13:g.(?_2559496)_(2594065_?)del deletion Neonatal-onset encephalopathy with rigidity and seizures [RCV001386440] Chr7:2559496..2594065 [GRCh37]
Chr7:7p22.3		 pathogenic
NR_178195.1(LFNG):n.265_266insGATG insertion not provided [RCV001762883] Chr7:2513247..2513248 [GRCh38]
Chr7:2552881..2552882 [GRCh37]
Chr7:7p22.3		 benign
NM_001166355.2(LFNG):c.47+83C>A single nucleotide variant not provided [RCV001785999] Chr7:2512784 [GRCh38]
Chr7:2552418 [GRCh37]
Chr7:7p22.3		 likely benign
NR_178195.1(LFNG):n.189G>C single nucleotide variant not provided [RCV001776669] Chr7:2513172 [GRCh38]
Chr7:2552806 [GRCh37]
Chr7:7p22.3		 benign
NM_001040167.2(LFNG):c.560G>A (p.Arg187His) single nucleotide variant Spondylocostal dysostosis 3, autosomal recessive [RCV002025547] Chr7:2525297 [GRCh38]
Chr7:2564931 [GRCh37]
Chr7:7p22.3		 uncertain significance
NM_001040167.2(LFNG):c.506C>T (p.Ser169Leu) single nucleotide variant Spondylocostal dysostosis 3, autosomal recessive [RCV001864055] Chr7:2525243 [GRCh38]
Chr7:2564877 [GRCh37]
Chr7:7p22.3		 uncertain significance
NM_001040167.2(LFNG):c.1063G>A (p.Asp355Asn) single nucleotide variant Spondylocostal dysostosis 3, autosomal recessive [RCV001930055] Chr7:2526911 [GRCh38]
Chr7:2566545 [GRCh37]
Chr7:7p22.3		 uncertain significance
NM_001040167.2(LFNG):c.287C>G (p.Pro96Arg) single nucleotide variant Spondylocostal dysostosis 3, autosomal recessive [RCV001908542] Chr7:2520148 [GRCh38]
Chr7:2559782 [GRCh37]
Chr7:7p22.3		 uncertain significance
NM_001040167.2(LFNG):c.368A>G (p.Lys123Arg) single nucleotide variant Inborn genetic diseases [RCV003167008]|Spondylocostal dysostosis 3, autosomal recessive [RCV001927448] Chr7:2520229 [GRCh38]
Chr7:2559863 [GRCh37]
Chr7:7p22.3		 likely benign|uncertain significance
NM_001040167.2(LFNG):c.823G>A (p.Gly275Arg) single nucleotide variant Spondylocostal dysostosis 3, autosomal recessive [RCV002039627] Chr7:2526245 [GRCh38]
Chr7:2565879 [GRCh37]
Chr7:7p22.3		 uncertain significance
NM_001040167.2(LFNG):c.843G>A (p.Thr281=) single nucleotide variant Spondylocostal dysostosis 3, autosomal recessive [RCV001985095] Chr7:2526265 [GRCh38]
Chr7:2565899 [GRCh37]
Chr7:7p22.3		 likely benign|uncertain significance
GRCh37/hg19 7p22.3(chr7:2319788-2700303) copy number gain not specified [RCV002053664] Chr7:2319788..2700303 [GRCh37]
Chr7:7p22.3		 uncertain significance
NM_001040167.2(LFNG):c.810C>A (p.Ser270Arg) single nucleotide variant Spondylocostal dysostosis 3, autosomal recessive [RCV002023686] Chr7:2525759 [GRCh38]
Chr7:2565393 [GRCh37]
Chr7:7p22.3		 uncertain significance
NM_001040167.2(LFNG):c.214C>T (p.His72Tyr) single nucleotide variant Spondylocostal dysostosis 3, autosomal recessive [RCV001948571] Chr7:2520075 [GRCh38]
Chr7:2559709 [GRCh37]
Chr7:7p22.3		 uncertain significance
NM_001040167.2(LFNG):c.761C>T (p.Thr254Met) single nucleotide variant Spondylocostal dysostosis 3, autosomal recessive [RCV001844372] Chr7:2525710 [GRCh38]
Chr7:2565344 [GRCh37]
Chr7:7p22.3		 uncertain significance
NM_001040167.2(LFNG):c.951C>A (p.Asn317Lys) single nucleotide variant Spondylocostal dysostosis 3, autosomal recessive [RCV001890408] Chr7:2526373 [GRCh38]
Chr7:2566007 [GRCh37]
Chr7:7p22.3		 uncertain significance
NM_001040167.2(LFNG):c.10C>G (p.Arg4Gly) single nucleotide variant Spondylocostal dysostosis 3, autosomal recessive [RCV002021125] Chr7:2519871 [GRCh38]
Chr7:2559505 [GRCh37]
Chr7:7p22.3		 uncertain significance
NM_001040167.2(LFNG):c.566T>C (p.Ile189Thr) single nucleotide variant Spondylocostal dysostosis 3, autosomal recessive [RCV001894425] Chr7:2525303 [GRCh38]
Chr7:2564937 [GRCh37]
Chr7:7p22.3		 uncertain significance
NM_001040167.2(LFNG):c.284C>T (p.Ala95Val) single nucleotide variant Spondylocostal dysostosis 3, autosomal recessive [RCV001926668] Chr7:2520145 [GRCh38]
Chr7:2559779 [GRCh37]
Chr7:7p22.3		 uncertain significance
NM_001040167.2(LFNG):c.788G>T (p.Arg263Leu) single nucleotide variant Spondylocostal dysostosis 3, autosomal recessive [RCV002032150] Chr7:2525737 [GRCh38]
Chr7:2565371 [GRCh37]
Chr7:7p22.3		 uncertain significance
NM_001040167.2(LFNG):c.987G>A (p.Gln329=) single nucleotide variant Spondylocostal dysostosis 3, autosomal recessive [RCV001878809] Chr7:2526409 [GRCh38]
Chr7:2566043 [GRCh37]
Chr7:7p22.3		 uncertain significance
NM_001040167.2(LFNG):c.1078C>T (p.Arg360Cys) single nucleotide variant Spondylocostal dysostosis 3, autosomal recessive [RCV001940563] Chr7:2527150 [GRCh38]
Chr7:2566784 [GRCh37]
Chr7:7p22.3		 uncertain significance
NM_001040167.2(LFNG):c.547G>A (p.Val183Met) single nucleotide variant Spondylocostal dysostosis 3, autosomal recessive [RCV001979728] Chr7:2525284 [GRCh38]
Chr7:2564918 [GRCh37]
Chr7:7p22.3		 uncertain significance
NM_001040167.2(LFNG):c.635G>A (p.Arg212Gln) single nucleotide variant Spondylocostal dysostosis 3, autosomal recessive [RCV001888356] Chr7:2525467 [GRCh38]
Chr7:2565101 [GRCh37]
Chr7:7p22.3		 uncertain significance
NM_001040167.2(LFNG):c.434C>A (p.Thr145Lys) single nucleotide variant Spondylocostal dysostosis 3, autosomal recessive [RCV001918207] Chr7:2524696 [GRCh38]
Chr7:2564330 [GRCh37]
Chr7:7p22.3		 uncertain significance
NM_001040167.2(LFNG):c.737G>A (p.Arg246His) single nucleotide variant Spondylocostal dysostosis 3, autosomal recessive [RCV001971951] Chr7:2525686 [GRCh38]
Chr7:2565320 [GRCh37]
Chr7:7p22.3		 uncertain significance
NM_001040167.2(LFNG):c.245C>A (p.Thr82Asn) single nucleotide variant Spondylocostal dysostosis 3, autosomal recessive [RCV002026904] Chr7:2520106 [GRCh38]
Chr7:2559740 [GRCh37]
Chr7:7p22.3		 uncertain significance
NM_001040167.2(LFNG):c.479C>T (p.Thr160Met) single nucleotide variant Spondylocostal dysostosis 3, autosomal recessive [RCV002027386] Chr7:2524741 [GRCh38]
Chr7:2564375 [GRCh37]
Chr7:7p22.3		 uncertain significance
NM_001040167.2(LFNG):c.1022G>A (p.Arg341Gln) single nucleotide variant Spondylocostal dysostosis 3, autosomal recessive [RCV001920966] Chr7:2526870 [GRCh38]
Chr7:2566504 [GRCh37]
Chr7:7p22.3		 uncertain significance
NM_001040167.2(LFNG):c.46G>A (p.Ala16Thr) single nucleotide variant Spondylocostal dysostosis 3, autosomal recessive [RCV001936423] Chr7:2519907 [GRCh38]
Chr7:2559541 [GRCh37]
Chr7:7p22.3		 uncertain significance
NM_001040167.2(LFNG):c.433-18C>T single nucleotide variant Spondylocostal dysostosis 3, autosomal recessive [RCV002019719] Chr7:2524677 [GRCh38]
Chr7:2564311 [GRCh37]
Chr7:7p22.3		 likely benign|uncertain significance
NM_001040167.2(LFNG):c.673G>A (p.Val225Ile) single nucleotide variant Spondylocostal dysostosis 3, autosomal recessive [RCV001991799] Chr7:2525505 [GRCh38]
Chr7:2565139 [GRCh37]
Chr7:7p22.3		 uncertain significance
NM_001040167.2(LFNG):c.482-3C>T single nucleotide variant Spondylocostal dysostosis 3, autosomal recessive [RCV002026414] Chr7:2525216 [GRCh38]
Chr7:2564850 [GRCh37]
Chr7:7p22.3		 uncertain significance
NM_001040167.2(LFNG):c.140G>A (p.Gly47Asp) single nucleotide variant Spondylocostal dysostosis 3, autosomal recessive [RCV001938390] Chr7:2520001 [GRCh38]
Chr7:2559635 [GRCh37]
Chr7:7p22.3		 uncertain significance
NM_001040167.2(LFNG):c.369A>C (p.Lys123Asn) single nucleotide variant Spondylocostal dysostosis 3, autosomal recessive [RCV001998628] Chr7:2520230 [GRCh38]
Chr7:2559864 [GRCh37]
Chr7:7p22.3		 uncertain significance
NM_001040167.2(LFNG):c.67G>T (p.Val23Leu) single nucleotide variant Spondylocostal dysostosis 3, autosomal recessive [RCV001998582] Chr7:2519928 [GRCh38]
Chr7:2559562 [GRCh37]
Chr7:7p22.3		 uncertain significance
NM_001040167.2(LFNG):c.1123C>T (p.Arg375Cys) single nucleotide variant Spondylocostal dysostosis 3, autosomal recessive [RCV001940767] Chr7:2527195 [GRCh38]
Chr7:2566829 [GRCh37]
Chr7:7p22.3		 uncertain significance
NM_001040167.2(LFNG):c.812C>T (p.Pro271Leu) single nucleotide variant Spondylocostal dysostosis 3, autosomal recessive [RCV001933973] Chr7:2525761 [GRCh38]
Chr7:2565395 [GRCh37]
Chr7:7p22.3		 uncertain significance
NM_001040167.2(LFNG):c.661C>T (p.Arg221Trp) single nucleotide variant Spondylocostal dysostosis 3, autosomal recessive [RCV002009709] Chr7:2525493 [GRCh38]
Chr7:2565127 [GRCh37]
Chr7:7p22.3		 uncertain significance
NC_000007.13:g.(?_2559496)_(2587132_?)dup duplication Neonatal-onset encephalopathy with rigidity and seizures [RCV002029406]|Spondylocostal dysostosis 3, autosomal recessive [RCV003120804] Chr7:2559496..2587132 [GRCh37]
Chr7:7p22.3		 uncertain significance
NM_001040167.2(LFNG):c.988-11G>A single nucleotide variant Spondylocostal dysostosis 3, autosomal recessive [RCV002071513] Chr7:2526825 [GRCh38]
Chr7:2566459 [GRCh37]
Chr7:7p22.3		 likely benign
NM_001040167.2(LFNG):c.822-5C>T single nucleotide variant Spondylocostal dysostosis 3, autosomal recessive [RCV002092019] Chr7:2526239 [GRCh38]
Chr7:2565873 [GRCh37]
Chr7:7p22.3		 likely benign
NM_001040167.2(LFNG):c.1074-16T>C single nucleotide variant Spondylocostal dysostosis 3, autosomal recessive [RCV002111055] Chr7:2527130 [GRCh38]
Chr7:2566764 [GRCh37]
Chr7:7p22.3		 benign
NM_001040167.2(LFNG):c.988-12C>T single nucleotide variant Spondylocostal dysostosis 3, autosomal recessive [RCV002125072] Chr7:2526824 [GRCh38]
Chr7:2566458 [GRCh37]
Chr7:7p22.3		 benign
NM_001040167.2(LFNG):c.432+12G>A single nucleotide variant Spondylocostal dysostosis 3, autosomal recessive [RCV002117206] Chr7:2520305 [GRCh38]
Chr7:2559939 [GRCh37]
Chr7:7p22.3		 likely benign
NM_001040167.2(LFNG):c.316C>T (p.Leu106=) single nucleotide variant Spondylocostal dysostosis 3, autosomal recessive [RCV002170278] Chr7:2520177 [GRCh38]
Chr7:2559811 [GRCh37]
Chr7:7p22.3		 likely benign
NM_001040167.2(LFNG):c.105C>T (p.Ala35=) single nucleotide variant Spondylocostal dysostosis 3, autosomal recessive [RCV002215016] Chr7:2519966 [GRCh38]
Chr7:2559600 [GRCh37]
Chr7:7p22.3		 likely benign
NM_001040167.2(LFNG):c.696G>A (p.Arg232=) single nucleotide variant Spondylocostal dysostosis 3, autosomal recessive [RCV002113900] Chr7:2525528 [GRCh38]
Chr7:2565162 [GRCh37]
Chr7:7p22.3		 likely benign
NM_001040167.2(LFNG):c.581+14C>T single nucleotide variant Spondylocostal dysostosis 3, autosomal recessive [RCV002152992] Chr7:2525332 [GRCh38]
Chr7:2564966 [GRCh37]
Chr7:7p22.3		 benign
NM_001040167.2(LFNG):c.736-15_736-13del deletion Spondylocostal dysostosis 3, autosomal recessive [RCV002096206] Chr7:2525668..2525670 [GRCh38]
Chr7:2565302..2565304 [GRCh37]
Chr7:7p22.3		 likely benign
NM_001040167.2(LFNG):c.581+7G>A single nucleotide variant Spondylocostal dysostosis 3, autosomal recessive [RCV002096884] Chr7:2525325 [GRCh38]
Chr7:2564959 [GRCh37]
Chr7:7p22.3		 likely benign
NM_001040167.2(LFNG):c.987+12T>C single nucleotide variant Spondylocostal dysostosis 3, autosomal recessive [RCV002171966] Chr7:2526421 [GRCh38]
Chr7:2566055 [GRCh37]
Chr7:7p22.3		 likely benign
NM_001040167.2(LFNG):c.988-16C>T single nucleotide variant Spondylocostal dysostosis 3, autosomal recessive [RCV002116118] Chr7:2526820 [GRCh38]
Chr7:2566454 [GRCh37]
Chr7:7p22.3		 benign
NM_001040167.2(LFNG):c.594C>T (p.His198=) single nucleotide variant Spondylocostal dysostosis 3, autosomal recessive [RCV002098198] Chr7:2525426 [GRCh38]
Chr7:2565060 [GRCh37]
Chr7:7p22.3		 likely benign
NM_001040167.2(LFNG):c.735+10T>G single nucleotide variant Spondylocostal dysostosis 3, autosomal recessive [RCV002160576] Chr7:2525577 [GRCh38]
Chr7:2565211 [GRCh37]
Chr7:7p22.3		 likely benign
NM_001040167.2(LFNG):c.1032C>T (p.Val344=) single nucleotide variant Spondylocostal dysostosis 3, autosomal recessive [RCV002103049] Chr7:2526880 [GRCh38]
Chr7:2566514 [GRCh37]
Chr7:7p22.3		 likely benign
NM_001040167.2(LFNG):c.736-18C>T single nucleotide variant Spondylocostal dysostosis 3, autosomal recessive [RCV002204852] Chr7:2525667 [GRCh38]
Chr7:2565301 [GRCh37]
Chr7:7p22.3		 likely benign
NM_001040167.2(LFNG):c.736-15T>G single nucleotide variant Spondylocostal dysostosis 3, autosomal recessive [RCV002120778] Chr7:2525670 [GRCh38]
Chr7:2565304 [GRCh37]
Chr7:7p22.3		 likely benign
NM_001040167.2(LFNG):c.481+10G>C single nucleotide variant Spondylocostal dysostosis 3, autosomal recessive [RCV002200184] Chr7:2524753 [GRCh38]
Chr7:2564387 [GRCh37]
Chr7:7p22.3		 likely benign
NM_001040167.2(LFNG):c.567C>T (p.Ile189=) single nucleotide variant Spondylocostal dysostosis 3, autosomal recessive [RCV002201914] Chr7:2525304 [GRCh38]
Chr7:2564938 [GRCh37]
Chr7:7p22.3		 likely benign
NM_001040167.2(LFNG):c.661C>A (p.Arg221=) single nucleotide variant Spondylocostal dysostosis 3, autosomal recessive [RCV002082338] Chr7:2525493 [GRCh38]
Chr7:2565127 [GRCh37]
Chr7:7p22.3		 likely benign
NM_001040167.2(LFNG):c.822-9C>G single nucleotide variant Spondylocostal dysostosis 3, autosomal recessive [RCV002118883] Chr7:2526235 [GRCh38]
Chr7:2565869 [GRCh37]
Chr7:7p22.3		 benign
NM_001040167.2(LFNG):c.821+9C>T single nucleotide variant Spondylocostal dysostosis 3, autosomal recessive [RCV002137317] Chr7:2525779 [GRCh38]
Chr7:2565413 [GRCh37]
Chr7:7p22.3		 likely benign
NM_001040167.2(LFNG):c.225C>A (p.Ser75=) single nucleotide variant Spondylocostal dysostosis 3, autosomal recessive [RCV002099750] Chr7:2520086 [GRCh38]
Chr7:2559720 [GRCh37]
Chr7:7p22.3		 likely benign
NM_001040167.2(LFNG):c.285C>G (p.Ala95=) single nucleotide variant Spondylocostal dysostosis 3, autosomal recessive [RCV002216783] Chr7:2520146 [GRCh38]
Chr7:2559780 [GRCh37]
Chr7:7p22.3		 likely benign
NM_001040167.2(LFNG):c.1140G>A (p.Ter380=) single nucleotide variant Spondylocostal dysostosis 3, autosomal recessive [RCV002143443] Chr7:2527212 [GRCh38]
Chr7:2566846 [GRCh37]
Chr7:7p22.3		 likely benign
NM_001040167.2(LFNG):c.264G>A (p.Ala88=) single nucleotide variant Spondylocostal dysostosis 3, autosomal recessive [RCV002099708] Chr7:2520125 [GRCh38]
Chr7:2559759 [GRCh37]
Chr7:7p22.3		 likely benign
NM_001040167.2(LFNG):c.1029C>T (p.Ala343=) single nucleotide variant Spondylocostal dysostosis 3, autosomal recessive [RCV003110371] Chr7:2526877 [GRCh38]
Chr7:2566511 [GRCh37]
Chr7:7p22.3		 likely benign
GRCh37/hg19 7p22.3-21.3(chr7:43360-9649794)x3 copy number gain See cases [RCV002292426] Chr7:43360..9649794 [GRCh37]
Chr7:7p22.3-21.3		 pathogenic
GRCh37/hg19 7p22.3-21.1(chr7:43360-19485604)x3 copy number gain See cases [RCV002287567] Chr7:43360..19485604 [GRCh37]
Chr7:7p22.3-21.1		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1 copy number loss See cases [RCV002287832] Chr7:56604613..96692931 [GRCh37]
Chr7:7p22.3-q36.3		 uncertain significance
NM_001040167.2(LFNG):c.-74C>G single nucleotide variant not provided [RCV002285820] Chr7:2519788 [GRCh38]
Chr7:2559422 [GRCh37]
Chr7:7p22.3		 likely benign
NM_001040167.2(LFNG):c.334C>A (p.Pro112Thr) single nucleotide variant Spondylocostal dysostosis 3, autosomal recessive [RCV002967765] Chr7:2520195 [GRCh38]
Chr7:2559829 [GRCh37]
Chr7:7p22.3		 uncertain significance
NM_001040167.2(LFNG):c.826G>C (p.Gly276Arg) single nucleotide variant Spondylocostal dysostosis 3, autosomal recessive [RCV002299200] Chr7:2526248 [GRCh38]
Chr7:2565882 [GRCh37]
Chr7:7p22.3		 uncertain significance
NM_001040167.2(LFNG):c.927C>T (p.Gly309=) single nucleotide variant Spondylocostal dysostosis 3, autosomal recessive [RCV002776498] Chr7:2526349 [GRCh38]
Chr7:2565983 [GRCh37]
Chr7:7p22.3		 likely benign
NM_001040167.2(LFNG):c.432+16C>T single nucleotide variant Spondylocostal dysostosis 3, autosomal recessive [RCV002617839] Chr7:2520309 [GRCh38]
Chr7:2559943 [GRCh37]
Chr7:7p22.3		 likely benign
NM_001040167.2(LFNG):c.393C>T (p.Asp131=) single nucleotide variant Spondylocostal dysostosis 3, autosomal recessive [RCV003075766] Chr7:2520254 [GRCh38]
Chr7:2559888 [GRCh37]
Chr7:7p22.3		 likely benign
NM_001040167.2(LFNG):c.879C>T (p.Ile293=) single nucleotide variant Spondylocostal dysostosis 3, autosomal recessive [RCV002730138] Chr7:2526301 [GRCh38]
Chr7:2565935 [GRCh37]
Chr7:7p22.3		 likely benign
NM_001040167.2(LFNG):c.237C>T (p.Ser79=) single nucleotide variant Spondylocostal dysostosis 3, autosomal recessive [RCV003034873] Chr7:2520098 [GRCh38]
Chr7:2559732 [GRCh37]
Chr7:7p22.3		 likely benign
NM_001040167.2(LFNG):c.299A>T (p.Asp100Val) single nucleotide variant Spondylocostal dysostosis 3, autosomal recessive [RCV003021902] Chr7:2520160 [GRCh38]
Chr7:2559794 [GRCh37]
Chr7:7p22.3		 uncertain significance
NM_001040167.2(LFNG):c.246C>T (p.Thr82=) single nucleotide variant Spondylocostal dysostosis 3, autosomal recessive [RCV002914373] Chr7:2520107 [GRCh38]
Chr7:2559741 [GRCh37]
Chr7:7p22.3		 likely benign
NM_001040167.2(LFNG):c.1005_1013dup (p.Phe337_Glu338insAspMetPhe) duplication Spondylocostal dysostosis 3, autosomal recessive [RCV002591702] Chr7:2526852..2526853 [GRCh38]
Chr7:2566486..2566487 [GRCh37]
Chr7:7p22.3		 uncertain significance
NM_001040167.2(LFNG):c.987+17G>T single nucleotide variant Spondylocostal dysostosis 3, autosomal recessive [RCV002786113] Chr7:2526426 [GRCh38]
Chr7:2566060 [GRCh37]
Chr7:7p22.3		 likely benign
NM_001040167.2(LFNG):c.568G>A (p.Glu190Lys) single nucleotide variant Spondylocostal dysostosis 3, autosomal recessive [RCV002948345] Chr7:2525305 [GRCh38]
Chr7:2564939 [GRCh37]
Chr7:7p22.3		 uncertain significance
NM_001040167.2(LFNG):c.420C>G (p.Arg140=) single nucleotide variant Spondylocostal dysostosis 3, autosomal recessive [RCV002909651] Chr7:2520281 [GRCh38]
Chr7:2559915 [GRCh37]
Chr7:7p22.3		 likely benign
NM_001040167.2(LFNG):c.41C>G (p.Ala14Gly) single nucleotide variant Spondylocostal dysostosis 3, autosomal recessive [RCV002926855] Chr7:2519902 [GRCh38]
Chr7:2559536 [GRCh37]
Chr7:7p22.3		 uncertain significance
NM_001040167.2(LFNG):c.993G>A (p.Thr331=) single nucleotide variant Spondylocostal dysostosis 3, autosomal recessive [RCV002637294] Chr7:2526841 [GRCh38]
Chr7:2566475 [GRCh37]
Chr7:7p22.3		 likely benign
NM_001040167.2(LFNG):c.443dup (p.Thr149fs) duplication Spondylocostal dysostosis 3, autosomal recessive [RCV002760998] Chr7:2524703..2524704 [GRCh38]
Chr7:2564337..2564338 [GRCh37]
Chr7:7p22.3		 pathogenic
NM_001040167.2(LFNG):c.112G>T (p.Gly38Cys) single nucleotide variant Spondylocostal dysostosis 3, autosomal recessive [RCV003053220] Chr7:2519973 [GRCh38]
Chr7:2559607 [GRCh37]
Chr7:7p22.3		 uncertain significance
NM_001040167.2(LFNG):c.822-19G>A single nucleotide variant Spondylocostal dysostosis 3, autosomal recessive [RCV002706403] Chr7:2526225 [GRCh38]
Chr7:2565859 [GRCh37]
Chr7:7p22.3		 uncertain significance
NM_001040167.2(LFNG):c.882C>T (p.Gly294=) single nucleotide variant Spondylocostal dysostosis 3, autosomal recessive [RCV002949115] Chr7:2526304 [GRCh38]
Chr7:2565938 [GRCh37]
Chr7:7p22.3		 likely benign
NM_001166355.2(LFNG):c.203G>C (p.Gly68Ala) single nucleotide variant Inborn genetic diseases [RCV002986637] Chr7:2513312 [GRCh38]
Chr7:2552946 [GRCh37]
Chr7:7p22.3		 uncertain significance
NM_001040167.2(LFNG):c.620T>A (p.Leu207Gln) single nucleotide variant Spondylocostal dysostosis 3, autosomal recessive [RCV002596786] Chr7:2525452 [GRCh38]
Chr7:2565086 [GRCh37]
Chr7:7p22.3		 uncertain significance
NM_001040167.2(LFNG):c.271C>T (p.Pro91Ser) single nucleotide variant Inborn genetic diseases [RCV003367936]|Spondylocostal dysostosis 3, autosomal recessive [RCV003007265] Chr7:2520132 [GRCh38]
Chr7:2559766 [GRCh37]
Chr7:7p22.3		 uncertain significance
NM_001040167.2(LFNG):c.1008G>A (p.Met336Ile) single nucleotide variant Spondylocostal dysostosis 3, autosomal recessive [RCV002805644] Chr7:2526856 [GRCh38]
Chr7:2566490 [GRCh37]
Chr7:7p22.3		 uncertain significance
NM_001040167.2(LFNG):c.216_217del (p.His72fs) microsatellite Spondylocostal dysostosis 3, autosomal recessive [RCV002890013] Chr7:2520075..2520076 [GRCh38]
Chr7:2559709..2559710 [GRCh37]
Chr7:7p22.3		 pathogenic
NM_001040167.2(LFNG):c.659C>T (p.Thr220Met) single nucleotide variant Inborn genetic diseases [RCV003083824]|Spondylocostal dysostosis 3, autosomal recessive [RCV003089340] Chr7:2525491 [GRCh38]
Chr7:2565125 [GRCh37]
Chr7:7p22.3		 uncertain significance
NM_001040167.2(LFNG):c.822-18G>C single nucleotide variant Spondylocostal dysostosis 3, autosomal recessive [RCV002828466] Chr7:2526226 [GRCh38]
Chr7:2565860 [GRCh37]
Chr7:7p22.3		 likely benign
NM_001040167.2(LFNG):c.10C>T (p.Arg4Cys) single nucleotide variant Spondylocostal dysostosis 3, autosomal recessive [RCV002644215] Chr7:2519871 [GRCh38]
Chr7:2559505 [GRCh37]
Chr7:7p22.3		 uncertain significance
NM_001040167.2(LFNG):c.306C>A (p.His102Gln) single nucleotide variant Spondylocostal dysostosis 3, autosomal recessive [RCV003085481] Chr7:2520167 [GRCh38]
Chr7:2559801 [GRCh37]
Chr7:7p22.3		 uncertain significance
NM_001040167.2(LFNG):c.137C>T (p.Ala46Val) single nucleotide variant Spondylocostal dysostosis 3, autosomal recessive [RCV002954324] Chr7:2519998 [GRCh38]
Chr7:2559632 [GRCh37]
Chr7:7p22.3		 uncertain significance
NM_001040167.2(LFNG):c.155C>T (p.Ala52Val) single nucleotide variant Inborn genetic diseases [RCV002804379] Chr7:2520016 [GRCh38]
Chr7:2559650 [GRCh37]
Chr7:7p22.3		 uncertain significance
NM_001040167.2(LFNG):c.126G>A (p.Leu42=) single nucleotide variant Spondylocostal dysostosis 3, autosomal recessive [RCV002829134] Chr7:2519987 [GRCh38]
Chr7:2559621 [GRCh37]
Chr7:7p22.3		 likely benign
NM_001040167.2(LFNG):c.569A>T (p.Glu190Val) single nucleotide variant Spondylocostal dysostosis 3, autosomal recessive [RCV002957960] Chr7:2525306 [GRCh38]
Chr7:2564940 [GRCh37]
Chr7:7p22.3		 uncertain significance
NM_001040167.2(LFNG):c.654G>A (p.Pro218=) single nucleotide variant Spondylocostal dysostosis 3, autosomal recessive [RCV002628514] Chr7:2525486 [GRCh38]
Chr7:2565120 [GRCh37]
Chr7:7p22.3		 likely benign
NM_001040167.2(LFNG):c.765C>T (p.Gly255=) single nucleotide variant LFNG-related condition [RCV003973563]|Spondylocostal dysostosis 3, autosomal recessive [RCV002938659] Chr7:2525714 [GRCh38]
Chr7:2565348 [GRCh37]
Chr7:7p22.3		 likely benign
NM_001040167.2(LFNG):c.581+15G>T single nucleotide variant Spondylocostal dysostosis 3, autosomal recessive [RCV002900306] Chr7:2525333 [GRCh38]
Chr7:2564967 [GRCh37]
Chr7:7p22.3		 likely benign
NM_001040167.2(LFNG):c.92C>T (p.Pro31Leu) single nucleotide variant Spondylocostal dysostosis 3, autosomal recessive [RCV002650571] Chr7:2519953 [GRCh38]
Chr7:2559587 [GRCh37]
Chr7:7p22.3		 uncertain significance
NM_001040167.2(LFNG):c.780C>T (p.Cys260=) single nucleotide variant Spondylocostal dysostosis 3, autosomal recessive [RCV002877561] Chr7:2525729 [GRCh38]
Chr7:2565363 [GRCh37]
Chr7:7p22.3		 likely benign
NM_001040167.2(LFNG):c.433-12T>A single nucleotide variant Spondylocostal dysostosis 3, autosomal recessive [RCV002898819] Chr7:2524683 [GRCh38]
Chr7:2564317 [GRCh37]
Chr7:7p22.3		 likely benign
NM_001040167.2(LFNG):c.675C>T (p.Val225=) single nucleotide variant Spondylocostal dysostosis 3, autosomal recessive [RCV003060583] Chr7:2525507 [GRCh38]
Chr7:2565141 [GRCh37]
Chr7:7p22.3		 likely benign
NM_001040167.2(LFNG):c.157C>G (p.Pro53Ala) single nucleotide variant Inborn genetic diseases [RCV002770618]|Spondylocostal dysostosis 3, autosomal recessive [RCV002770617] Chr7:2520018 [GRCh38]
Chr7:2559652 [GRCh37]
Chr7:7p22.3		 uncertain significance
NM_001040167.2(LFNG):c.666C>T (p.Asp222=) single nucleotide variant Spondylocostal dysostosis 3, autosomal recessive [RCV003091711] Chr7:2525498 [GRCh38]
Chr7:2565132 [GRCh37]
Chr7:7p22.3		 likely benign
NM_001040167.2(LFNG):c.1073+14G>A single nucleotide variant Spondylocostal dysostosis 3, autosomal recessive [RCV002921866] Chr7:2526935 [GRCh38]
Chr7:2566569 [GRCh37]
Chr7:7p22.3		 likely benign
NM_001040167.2(LFNG):c.102C>G (p.Pro34=) single nucleotide variant Spondylocostal dysostosis 3, autosomal recessive [RCV002857079] Chr7:2519963 [GRCh38]
Chr7:2559597 [GRCh37]
Chr7:7p22.3		 likely benign
NM_001040167.2(LFNG):c.84G>T (p.Pro28=) single nucleotide variant Spondylocostal dysostosis 3, autosomal recessive [RCV003089704] Chr7:2519945 [GRCh38]
Chr7:2559579 [GRCh37]
Chr7:7p22.3		 likely benign
NM_001040167.2(LFNG):c.481+20C>T single nucleotide variant Spondylocostal dysostosis 3, autosomal recessive [RCV003093643] Chr7:2524763 [GRCh38]
Chr7:2564397 [GRCh37]
Chr7:7p22.3		 likely benign
NM_001040167.2(LFNG):c.363C>T (p.Thr121=) single nucleotide variant Spondylocostal dysostosis 3, autosomal recessive [RCV002585898] Chr7:2520224 [GRCh38]
Chr7:2559858 [GRCh37]
Chr7:7p22.3		 likely benign
NM_001040167.2(LFNG):c.508G>A (p.Ala170Thr) single nucleotide variant Spondylocostal dysostosis 3, autosomal recessive [RCV002585248] Chr7:2525245 [GRCh38]
Chr7:2564879 [GRCh37]
Chr7:7p22.3		 uncertain significance
NM_001040167.2(LFNG):c.984G>A (p.Glu328=) single nucleotide variant Spondylocostal dysostosis 3, autosomal recessive [RCV002610613] Chr7:2526406 [GRCh38]
Chr7:2566040 [GRCh37]
Chr7:7p22.3		 likely benign
NM_001040167.2(LFNG):c.521G>T (p.Arg174Leu) single nucleotide variant Inborn genetic diseases [RCV003221019] Chr7:2525258 [GRCh38]
Chr7:2564892 [GRCh37]
Chr7:7p22.3		 uncertain significance
NM_001040167.2(LFNG):c.842C>A (p.Thr281Lys) single nucleotide variant not provided [RCV003334288] Chr7:2526264 [GRCh38]
Chr7:2565898 [GRCh37]
Chr7:7p22.3		 uncertain significance
NM_001040167.2(LFNG):c.158C>T (p.Pro53Leu) single nucleotide variant Inborn genetic diseases [RCV003378772] Chr7:2520019 [GRCh38]
Chr7:2559653 [GRCh37]
Chr7:7p22.3		 uncertain significance
NM_001040167.2(LFNG):c.460G>A (p.Glu154Lys) single nucleotide variant not provided [RCV003331523] Chr7:2524722 [GRCh38]
Chr7:2564356 [GRCh37]
Chr7:7p22.3		 uncertain significance
GRCh37/hg19 7p22.3(chr7:2472275-2629740)x1 copy number loss not provided [RCV003457530] Chr7:2472275..2629740 [GRCh37]
Chr7:7p22.3		 uncertain significance
NM_001040167.2(LFNG):c.123G>A (p.Ala41=) single nucleotide variant Spondylocostal dysostosis 3, autosomal recessive [RCV003875096] Chr7:2519984 [GRCh38]
Chr7:2559618 [GRCh37]
Chr7:7p22.3		 likely benign
NM_001040167.2(LFNG):c.486C>T (p.Asn162=) single nucleotide variant Spondylocostal dysostosis 3, autosomal recessive [RCV003505828] Chr7:2525223 [GRCh38]
Chr7:2564857 [GRCh37]
Chr7:7p22.3		 likely benign
NM_001040167.2(LFNG):c.987+16_987+33del deletion Spondylocostal dysostosis 3, autosomal recessive [RCV003504645] Chr7:2526420..2526437 [GRCh38]
Chr7:2566054..2566071 [GRCh37]
Chr7:7p22.3		 likely benign
NM_001040167.2(LFNG):c.528G>A (p.Ala176=) single nucleotide variant Spondylocostal dysostosis 3, autosomal recessive [RCV003506055] Chr7:2525265 [GRCh38]
Chr7:2564899 [GRCh37]
Chr7:7p22.3		 likely benign
NM_001040167.2(LFNG):c.981C>T (p.His327=) single nucleotide variant LFNG-related condition [RCV003966496]|Spondylocostal dysostosis 3, autosomal recessive [RCV003506218] Chr7:2526403 [GRCh38]
Chr7:2566037 [GRCh37]
Chr7:7p22.3		 likely benign
GRCh37/hg19 7p22.3(chr7:2163436-2610093)x3 copy number gain not provided [RCV003484669] Chr7:2163436..2610093 [GRCh37]
Chr7:7p22.3		 uncertain significance
GRCh37/hg19 7p22.3-22.2(chr7:2380155-2885274)x3 copy number gain not provided [RCV003484672] Chr7:2380155..2885274 [GRCh37]
Chr7:7p22.3-22.2		 uncertain significance
GRCh37/hg19 7p22.3-22.2(chr7:2409035-2850679)x3 copy number gain not provided [RCV003484673] Chr7:2409035..2850679 [GRCh37]
Chr7:7p22.3-22.2		 uncertain significance
GRCh37/hg19 7p22.3-22.1(chr7:43361-5965440)x3 copy number gain not provided [RCV003484666] Chr7:43361..5965440 [GRCh37]
Chr7:7p22.3-22.1		 pathogenic
GRCh37/hg19 7p22.3-21.3(chr7:43361-8890475)x3 copy number gain not provided [RCV003484665] Chr7:43361..8890475 [GRCh37]
Chr7:7p22.3-21.3		 pathogenic
GRCh37/hg19 7p22.3(chr7:2469259-2610093)x1 copy number loss not provided [RCV003482947] Chr7:2469259..2610093 [GRCh37]
Chr7:7p22.3		 uncertain significance
NM_002304.3(LFNG):c.27G>T (p.Ala9=) single nucleotide variant LFNG-related condition [RCV003939016]|not provided [RCV003433719] Chr7:2518580 [GRCh38]
Chr7:2558214 [GRCh37]
Chr7:7p22.3		 likely benign
NM_001040167.2(LFNG):c.822-6C>A single nucleotide variant Spondylocostal dysostosis 3, autosomal recessive [RCV003881175] Chr7:2526238 [GRCh38]
Chr7:2565872 [GRCh37]
Chr7:7p22.3		 likely benign
NM_001040167.2(LFNG):c.1029C>G (p.Ala343=) single nucleotide variant Spondylocostal dysostosis 3, autosomal recessive [RCV003829873] Chr7:2526877 [GRCh38]
Chr7:2566511 [GRCh37]
Chr7:7p22.3		 likely benign
NM_001040167.2(LFNG):c.501C>T (p.Asn167=) single nucleotide variant Spondylocostal dysostosis 3, autosomal recessive [RCV003506329] Chr7:2525238 [GRCh38]
Chr7:2564872 [GRCh37]
Chr7:7p22.3		 likely benign
NM_001040167.2(LFNG):c.294C>T (p.Pro98=) single nucleotide variant Spondylocostal dysostosis 3, autosomal recessive [RCV003506358] Chr7:2520155 [GRCh38]
Chr7:2559789 [GRCh37]
Chr7:7p22.3		 likely benign
NM_001040167.2(LFNG):c.741T>C (p.Pro247=) single nucleotide variant Spondylocostal dysostosis 3, autosomal recessive [RCV003615255] Chr7:2525690 [GRCh38]
Chr7:2565324 [GRCh37]
Chr7:7p22.3		 likely benign
NM_001040167.2(LFNG):c.913C>T (p.Leu305Phe) single nucleotide variant Spondylocostal dysostosis 3, autosomal recessive [RCV003615348] Chr7:2526335 [GRCh38]
Chr7:2565969 [GRCh37]
Chr7:7p22.3		 uncertain significance
NM_001040167.2(LFNG):c.856C>T (p.Arg286Trp) single nucleotide variant Spondylocostal dysostosis 3, autosomal recessive [RCV003615392] Chr7:2526278 [GRCh38]
Chr7:2565912 [GRCh37]
Chr7:7p22.3		 uncertain significance
NM_001040167.2(LFNG):c.183G>A (p.Ala61=) single nucleotide variant Spondylocostal dysostosis 3, autosomal recessive [RCV003614342] Chr7:2520044 [GRCh38]
Chr7:2559678 [GRCh37]
Chr7:7p22.3		 likely benign
NM_001040167.2(LFNG):c.736-12C>T single nucleotide variant Spondylocostal dysostosis 3, autosomal recessive [RCV003615026] Chr7:2525673 [GRCh38]
Chr7:2565307 [GRCh37]
Chr7:7p22.3		 likely benign
NM_001040167.2(LFNG):c.432+11C>G single nucleotide variant Spondylocostal dysostosis 3, autosomal recessive [RCV003613851] Chr7:2520304 [GRCh38]
Chr7:2559938 [GRCh37]
Chr7:7p22.3		 likely benign
NM_001040167.2(LFNG):c.481+16G>C single nucleotide variant Spondylocostal dysostosis 3, autosomal recessive [RCV003613752] Chr7:2524759 [GRCh38]
Chr7:2564393 [GRCh37]
Chr7:7p22.3		 likely benign
NM_001040167.2(LFNG):c.1101C>T (p.Tyr367=) single nucleotide variant Spondylocostal dysostosis 3, autosomal recessive [RCV003614527] Chr7:2527173 [GRCh38]
Chr7:2566807 [GRCh37]
Chr7:7p22.3		 likely benign
NM_001040167.2(LFNG):c.898C>T (p.Leu300=) single nucleotide variant Spondylocostal dysostosis 3, autosomal recessive [RCV003615125] Chr7:2526320 [GRCh38]
Chr7:2565954 [GRCh37]
Chr7:7p22.3		 likely benign
NM_001040167.2(LFNG):c.581+18G>A single nucleotide variant Spondylocostal dysostosis 3, autosomal recessive [RCV003614607] Chr7:2525336 [GRCh38]
Chr7:2564970 [GRCh37]
Chr7:7p22.3		 likely benign
NM_001040167.2(LFNG):c.234C>T (p.Phe78=) single nucleotide variant Spondylocostal dysostosis 3, autosomal recessive [RCV003837307] Chr7:2520095 [GRCh38]
Chr7:2559729 [GRCh37]
Chr7:7p22.3		 likely benign
NM_001040167.2(LFNG):c.1074-19C>T single nucleotide variant Spondylocostal dysostosis 3, autosomal recessive [RCV003614364] Chr7:2527127 [GRCh38]
Chr7:2566761 [GRCh37]
Chr7:7p22.3		 likely benign
NM_001040167.2(LFNG):c.306C>T (p.His102=) single nucleotide variant Spondylocostal dysostosis 3, autosomal recessive [RCV003814149] Chr7:2520167 [GRCh38]
Chr7:2559801 [GRCh37]
Chr7:7p22.3		 likely benign
NM_001040167.2(LFNG):c.1074-11T>C single nucleotide variant Spondylocostal dysostosis 3, autosomal recessive [RCV003613832] Chr7:2527135 [GRCh38]
Chr7:2566769 [GRCh37]
Chr7:7p22.3		 likely benign
NM_001040167.2(LFNG):c.549G>A (p.Val183=) single nucleotide variant Spondylocostal dysostosis 3, autosomal recessive [RCV003837280] Chr7:2525286 [GRCh38]
Chr7:2564920 [GRCh37]
Chr7:7p22.3		 likely benign
NM_001040167.2(LFNG):c.747C>T (p.His249=) single nucleotide variant Spondylocostal dysostosis 3, autosomal recessive [RCV003615288] Chr7:2525696 [GRCh38]
Chr7:2565330 [GRCh37]
Chr7:7p22.3		 likely benign
NM_001040167.2(LFNG):c.822-20del deletion Spondylocostal dysostosis 3, autosomal recessive [RCV003615122] Chr7:2526224 [GRCh38]
Chr7:2565858 [GRCh37]
Chr7:7p22.3		 likely benign
NM_001040167.2(LFNG):c.716G>A (p.Arg239Gln) single nucleotide variant Spondylocostal dysostosis 3, autosomal recessive [RCV003615282] Chr7:2525548 [GRCh38]
Chr7:2565182 [GRCh37]
Chr7:7p22.3		 uncertain significance
NM_001040167.2(LFNG):c.222G>C (p.Leu74=) single nucleotide variant Spondylocostal dysostosis 3, autosomal recessive [RCV003864148] Chr7:2520083 [GRCh38]
Chr7:2559717 [GRCh37]
Chr7:7p22.3		 likely benign
NM_001040167.2(LFNG):c.897C>T (p.Ala299=) single nucleotide variant LFNG-related condition [RCV003939290] Chr7:2526319 [GRCh38]
Chr7:2565953 [GRCh37]
Chr7:7p22.3		 likely benign
NM_001040167.2(LFNG):c.735+13C>T single nucleotide variant Spondylocostal dysostosis 3, autosomal recessive [RCV003871227] Chr7:2525580 [GRCh38]
Chr7:2565214 [GRCh37]
Chr7:7p22.3		 likely benign
GRCh37/hg19 7p22.3-22.2(chr7:2088540-3127784)x3 copy number gain not specified [RCV003986692] Chr7:2088540..3127784 [GRCh37]
Chr7:7p22.3-22.2		 uncertain significance
NM_001040167.2(LFNG):c.637C>T (p.Leu213=) single nucleotide variant Spondylocostal dysostosis 3, autosomal recessive [RCV003870791] Chr7:2525469 [GRCh38]
Chr7:2565103 [GRCh37]
Chr7:7p22.3		 likely benign
GRCh37/hg19 7p22.3-22.2(chr7:2163435-2987198)x3 copy number gain not specified [RCV003986709] Chr7:2163435..2987198 [GRCh37]
Chr7:7p22.3-22.2		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3115
Count of miRNA genes:756
Interacting mature miRNAs:891
Transcripts:ENST00000222725, ENST00000338732, ENST00000359574, ENST00000402045, ENST00000402506, ENST00000493850
Prediction methods:Miranda, Rnahybrid
Result types:miRGate_prediction

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

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

Markers in Region
D7S2257  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3772,567,394 - 2,567,503UniSTSGRCh37
Build 3672,533,920 - 2,534,029RGDNCBI36
Celera72,536,697 - 2,536,806RGD
Cytogenetic Map7p22.2UniSTS
HuRef72,485,160 - 2,485,269UniSTS
CRA_TCAGchr7v272,615,237 - 2,615,346UniSTS
D7S2382E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3772,567,767 - 2,567,925UniSTSGRCh37
Build 3672,534,293 - 2,534,451RGDNCBI36
Celera72,537,070 - 2,537,228RGD
Cytogenetic Map7p22.2UniSTS
HuRef72,485,533 - 2,485,691UniSTS
CRA_TCAGchr7v272,615,610 - 2,615,768UniSTS
WI-15937  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3772,568,680 - 2,568,794UniSTSGRCh37
Build 3672,535,206 - 2,535,320RGDNCBI36
Celera72,537,983 - 2,538,097RGD
Cytogenetic Map7p22.2UniSTS
HuRef72,486,446 - 2,486,560UniSTS
CRA_TCAGchr7v272,616,523 - 2,616,637UniSTS
GeneMap99-GB4 RH Map734.75UniSTS
Whitehead-RH Map726.4UniSTS
MARC_26643-26644:1036437678:1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3772,565,356 - 2,565,950UniSTSGRCh37
Build 3672,531,882 - 2,532,476RGDNCBI36
Celera72,534,659 - 2,535,253RGD
HuRef72,483,116 - 2,483,710UniSTS
CRA_TCAGchr7v272,613,193 - 2,613,787UniSTS


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High 1 1
Medium 1105 856 329 175 1207 34 2167 186 1415 179 684 958 155 1 881 886 3 2
Low 1329 2092 1348 406 653 388 1965 1807 2315 239 766 647 20 323 1688 2
Below cutoff 5 42 49 43 69 43 225 204 4 1 10 8 214 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_008109 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001040167 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001040168 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001166355 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_002304 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_178195 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC092488 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF193612 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK096284 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY124582 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC014851 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM854210 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH236953 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471144 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068271 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC212785 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC212786 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U94354 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000222725   ⟹   ENSP00000222725
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl72,519,774 - 2,528,429 (+)Ensembl
RefSeq Acc Id: ENST00000338732   ⟹   ENSP00000343095
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl72,518,554 - 2,528,427 (+)Ensembl
RefSeq Acc Id: ENST00000359574   ⟹   ENSP00000352579
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl72,519,862 - 2,529,177 (+)Ensembl
RefSeq Acc Id: ENST00000402045   ⟹   ENSP00000384786
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl72,517,863 - 2,528,429 (+)Ensembl
RefSeq Acc Id: ENST00000402506   ⟹   ENSP00000385764
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl72,512,529 - 2,528,427 (+)Ensembl
RefSeq Acc Id: ENST00000493850
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl72,523,593 - 2,526,871 (+)Ensembl
RefSeq Acc Id: ENST00000614382   ⟹   ENSP00000483986
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl72,524,648 - 2,528,427 (+)Ensembl
RefSeq Acc Id: NM_001040167   ⟹   NP_001035257
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3872,519,774 - 2,528,429 (+)NCBI
GRCh3772,552,163 - 2,568,811 (+)ENTREZGENE
Build 3672,526,005 - 2,534,589 (+)NCBI Archive
HuRef72,469,979 - 2,486,577 (+)ENTREZGENE
CHM1_172,559,040 - 2,567,644 (+)NCBI
T2T-CHM13v2.072,633,187 - 2,641,848 (+)NCBI
CRA_TCAGchr7v272,600,032 - 2,616,654 (+)ENTREZGENE
Sequence:
RefSeq Acc Id: NM_001040168   ⟹   NP_001035258
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3872,519,774 - 2,529,177 (+)NCBI
GRCh3772,552,163 - 2,568,811 (+)ENTREZGENE
Build 3672,526,005 - 2,535,337 (+)NCBI Archive
HuRef72,469,979 - 2,486,577 (+)ENTREZGENE
CHM1_172,559,040 - 2,568,392 (+)NCBI
T2T-CHM13v2.072,633,187 - 2,642,596 (+)NCBI
CRA_TCAGchr7v272,600,032 - 2,616,654 (+)ENTREZGENE
Sequence:
RefSeq Acc Id: NM_001166355   ⟹   NP_001159827
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3872,512,529 - 2,528,429 (+)NCBI
GRCh3772,552,163 - 2,568,811 (+)ENTREZGENE
HuRef72,469,979 - 2,486,577 (+)ENTREZGENE
CHM1_172,551,728 - 2,567,644 (+)NCBI
T2T-CHM13v2.072,625,971 - 2,641,848 (+)NCBI
CRA_TCAGchr7v272,600,032 - 2,616,654 (+)ENTREZGENE
Sequence:
RefSeq Acc Id: NM_002304   ⟹   NP_002295
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3872,517,863 - 2,528,429 (+)NCBI
GRCh3772,552,163 - 2,568,811 (+)ENTREZGENE
HuRef72,469,979 - 2,486,577 (+)ENTREZGENE
CHM1_172,557,058 - 2,567,644 (+)NCBI
T2T-CHM13v2.072,631,276 - 2,641,848 (+)NCBI
CRA_TCAGchr7v272,600,032 - 2,616,654 (+)ENTREZGENE
Sequence:
RefSeq Acc Id: NR_178195
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.072,625,971 - 2,641,848 (+)NCBI
Reference Protein Sequences
RefSeq Acc Id: NP_001159827   ⟸   NM_001166355
- Peptide Label: isoform c
- UniProtKB: Q8NES3 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_002295   ⟸   NM_002304
- Peptide Label: isoform d
- UniProtKB: Q8NES3 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001035258   ⟸   NM_001040168
- Peptide Label: isoform b precursor
- UniProtKB: Q8NES3 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001035257   ⟸   NM_001040167
- Peptide Label: isoform a precursor
- UniProtKB: Q96C39 (UniProtKB/Swiss-Prot),   O00589 (UniProtKB/Swiss-Prot),   B5MCR5 (UniProtKB/Swiss-Prot),   B3KTY6 (UniProtKB/Swiss-Prot),   Q9UJW5 (UniProtKB/Swiss-Prot),   Q8NES3 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000352579   ⟸   ENST00000359574
RefSeq Acc Id: ENSP00000385764   ⟸   ENST00000402506
RefSeq Acc Id: ENSP00000384786   ⟸   ENST00000402045
RefSeq Acc Id: ENSP00000343095   ⟸   ENST00000338732
RefSeq Acc Id: ENSP00000483986   ⟸   ENST00000614382
RefSeq Acc Id: ENSP00000222725   ⟸   ENST00000222725

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q8NES3-F1-model_v2 AlphaFold Q8NES3 1-379 view protein structure

Promoters
RGD ID:6805862
Promoter ID:HG_KWN:56044
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562,   Lymphoblastoid
Transcripts:NM_001166355
Position:
Human AssemblyChrPosition (strand)Source
Build 3672,517,701 - 2,518,477 (+)MPROMDB
RGD ID:7209821
Promoter ID:EPDNEW_H10656
Type:initiation region
Name:LFNG_2
Description:LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H10657  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3872,517,855 - 2,517,915EPDNEW
RGD ID:7209823
Promoter ID:EPDNEW_H10657
Type:multiple initiation site
Name:LFNG_1
Description:LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H10656  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3872,519,774 - 2,519,834EPDNEW
RGD ID:6805865
Promoter ID:HG_KWN:56047
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000325021,   OTTHUMT00000325022
Position:
Human AssemblyChrPosition (strand)Source
Build 3672,525,406 - 2,526,032 (+)MPROMDB
RGD ID:6805864
Promoter ID:HG_KWN:56048
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3
Transcripts:OTTHUMT00000325025
Position:
Human AssemblyChrPosition (strand)Source
Build 3672,529,006 - 2,530,042 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:6560 AgrOrtholog
COSMIC LFNG COSMIC
Ensembl Genes ENSG00000106003 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000222725 ENTREZGENE
  ENST00000222725.10 UniProtKB/Swiss-Prot
  ENST00000338732.7 UniProtKB/Swiss-Prot
  ENST00000359574 ENTREZGENE
  ENST00000359574.7 UniProtKB/Swiss-Prot
  ENST00000402045 ENTREZGENE
  ENST00000402045.5 UniProtKB/Swiss-Prot
  ENST00000402506 ENTREZGENE
  ENST00000402506.5 UniProtKB/Swiss-Prot
Gene3D-CATH 3.90.550.50 UniProtKB/Swiss-Prot
GTEx ENSG00000106003 GTEx
HGNC ID HGNC:6560 ENTREZGENE
Human Proteome Map LFNG Human Proteome Map
InterPro Fringe UniProtKB/Swiss-Prot
  Fringe-like UniProtKB/Swiss-Prot
KEGG Report hsa:3955 UniProtKB/Swiss-Prot
NCBI Gene 3955 ENTREZGENE
OMIM 602576 OMIM
PANTHER BETA-1,3-N-ACETYLGLUCOSAMINYLTRANSFERASE LUNATIC FRINGE UniProtKB/Swiss-Prot
  FRINGE-RELATED UniProtKB/Swiss-Prot
Pfam Fringe UniProtKB/Swiss-Prot
PharmGKB PA30336 PharmGKB
PIRSF B-acetylgalactosaminyltfrase UniProtKB/Swiss-Prot
UniProt B3KTY6 ENTREZGENE
  B5MCR5 ENTREZGENE
  LFNG_HUMAN UniProtKB/Swiss-Prot
  O00589 ENTREZGENE
  Q8NES3 ENTREZGENE
  Q96C39 ENTREZGENE
  Q9UJW5 ENTREZGENE
UniProt Secondary B3KTY6 UniProtKB/Swiss-Prot
  B5MCR5 UniProtKB/Swiss-Prot
  O00589 UniProtKB/Swiss-Prot
  Q96C39 UniProtKB/Swiss-Prot
  Q9UJW5 UniProtKB/Swiss-Prot