FAM20C (FAM20C golgi associated secretory pathway kinase) - Rat Genome Database

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Gene: FAM20C (FAM20C golgi associated secretory pathway kinase) Homo sapiens
Analyze
Symbol: FAM20C
Name: FAM20C golgi associated secretory pathway kinase
RGD ID: 1323719
HGNC Page HGNC:22140
Description: Enables several functions, including manganese ion binding activity; protease binding activity; and protein self-association. Involved in biomineral tissue development and protein autophosphorylation. Located in Golgi apparatus and extracellular space. Implicated in amelogenesis imperfecta. Biomarker of X-linked dominant hypophosphatemic rickets.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: dentin matrix protein 4; DKFZp547C074; DMP-4; DMP4; extracellular serine/threonine protein kinase Fam20C; FAM20C, golgi associated secretory pathway kinase; family with sequence similarity 20 member C; family with sequence similarity 20, member C; G-CK; GEF-CK; Golgi casein kinase; golgi-enriched fraction casein kinase; RNS
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
GRCh387192,571 - 260,772 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl7192,571 - 260,772 (+)EnsemblGRCh38hg38GRCh38
GRCh377192,571 - 300,738 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 367288,052 - 304,059 (+)NCBINCBI36Build 36hg18NCBI36
Build 347288,195 - 304,059NCBI
Celera7211,215 - 273,622 (+)NCBICelera
Cytogenetic Map7p22.3NCBI
HuRef7203,619 - 219,084 (+)NCBIHuRef
HuRef7155,848 - 180,386 (+)NCBIHuRef
CHM1_17192,335 - 299,664 (+)NCBICHM1_1
T2T-CHM13v2.07293,238 - 360,993 (+)NCBIT2T-CHM13v2.0
CRA_TCAGchr7v27303,573 - 364,808 (+)NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-schisandrin B  (ISO)
1,1,1-trichloro-2,2-bis(4-hydroxyphenyl)ethane  (ISO)
1,1-dichloroethene  (ISO)
17beta-estradiol  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
3',5'-cyclic AMP  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (EXP)
4-hydroxyphenyl retinamide  (ISO)
5-fluorouracil  (EXP)
afimoxifene  (EXP)
aflatoxin B1  (EXP)
all-trans-retinoic acid  (EXP)
aristolochic acid  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
arsenous acid  (EXP)
benzene  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP)
benzo[e]pyrene  (EXP)
bisphenol A  (EXP,ISO)
bisphenol F  (EXP)
butan-1-ol  (EXP)
calcitriol  (EXP)
carbon nanotube  (ISO)
cisplatin  (EXP)
cocaine  (ISO)
copper atom  (ISO)
copper(0)  (ISO)
copper(II) sulfate  (EXP)
cyclosporin A  (EXP)
dexamethasone  (EXP,ISO)
diarsenic trioxide  (EXP)
dibutyl phthalate  (ISO)
diethylstilbestrol  (ISO)
dorsomorphin  (EXP)
endosulfan  (ISO)
entinostat  (EXP)
ethanol  (ISO)
fipronil  (ISO)
flutamide  (ISO)
genistein  (ISO)
indometacin  (EXP)
iron atom  (EXP)
iron(0)  (EXP)
lipopolysaccharide  (EXP)
menadione  (EXP)
methapyrilene  (EXP)
nickel atom  (EXP)
oxaliplatin  (ISO)
paracetamol  (ISO)
phenylmercury acetate  (EXP)
pirinixic acid  (ISO)
pregnenolone 16alpha-carbonitrile  (ISO)
rotenone  (ISO)
S-(1,2-dichlorovinyl)-L-cysteine  (EXP)
SB 431542  (EXP)
serpentine asbestos  (EXP)
silicon dioxide  (ISO)
silver atom  (ISO)
silver(0)  (ISO)
sodium arsenite  (EXP)
succimer  (ISO)
sunitinib  (EXP)
tetrachloromethane  (ISO)
thioacetamide  (ISO)
topotecan  (ISO)
trichloroethene  (ISO)
trichostatin A  (EXP)
triphenyl phosphate  (ISO)
urethane  (EXP)
valproic acid  (EXP,ISO)
vorinostat  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Anteverted nares  (IAGP)
Arthrogryposis multiplex congenita  (IAGP)
Autosomal recessive inheritance  (IAGP)
Bowing of the long bones  (IAGP)
Brachydactyly  (IAGP)
Brachyturricephaly  (IAGP)
Cerebral calcification  (IAGP)
Choanal atresia  (IAGP)
Choanal stenosis  (IAGP)
Cleft palate  (IAGP)
Congenital onset  (IAGP)
Death in infancy  (IAGP)
Delayed cranial suture closure  (IAGP)
Dental malocclusion  (IAGP)
Depressed nasal bridge  (IAGP)
Depressed nasal ridge  (IAGP)
Downslanted palpebral fissures  (IAGP)
Elevated circulating alkaline phosphatase concentration  (IAGP)
Enamel hypoplasia  (IAGP)
Generalized osteosclerosis  (IAGP)
Gingival fibromatosis  (IAGP)
Gingival overgrowth  (IAGP)
Global developmental delay  (IAGP)
High palate  (IAGP)
Highly arched eyebrow  (IAGP)
Hydrocephalus  (IAGP)
Hydronephrosis  (IAGP)
Hydroureter  (IAGP)
Hypertelorism  (IAGP)
Hypophosphatemia  (IAGP)
Increased bone mineral density  (IAGP)
Intrauterine growth retardation  (IAGP)
Large fontanelles  (IAGP)
Long hallux  (IAGP)
Low-set ears  (IAGP)
Malar flattening  (IAGP)
Mandibular aplasia  (IAGP)
Mandibular prognathia  (IAGP)
Median cleft lip and palate  (IAGP)
Microcephaly  (IAGP)
Microdontia  (IAGP)
Micrognathia  (IAGP)
Micromelia  (IAGP)
Midface retrusion  (IAGP)
Mixed hearing impairment  (IAGP)
Narrow mouth  (IAGP)
Natal tooth  (IAGP)
Neonatal death  (IAGP)
Pectus excavatum  (IAGP)
Periapical bone loss  (IAGP)
Periostosis  (IAGP)
Plagiocephaly  (IAGP)
Posteriorly rotated ears  (IAGP)
Proptosis  (IAGP)
Protruding ear  (IAGP)
Protruding tongue  (IAGP)
Pulmonary hypoplasia  (IAGP)
Respiratory distress  (IAGP)
Respiratory failure  (IAGP)
Retrognathia  (IAGP)
Short neck  (IAGP)
Short nose  (IAGP)
Short stature  (IAGP)
Subperiosteal bone formation  (IAGP)
Thoracic hypoplasia  (IAGP)
Wide mouth  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Variability of systemic and oro-dental phenotype in two families with non-lethal Raine syndrome with FAM20C mutations. Acevedo AC, etal., BMC Med Genet. 2015 Feb 21;16:8. doi: 10.1186/s12881-015-0154-5.
2. Dysregulated gene expression in the primary osteoblasts and osteocytes isolated from hypophosphatemic Hyp mice. Miyagawa K, etal., PLoS One. 2014 Apr 7;9(4):e93840. doi: 10.1371/journal.pone.0093840. eCollection 2014.
3. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
4. Exome sequencing reveals FAM20c mutations associated with fibroblast growth factor 23-related hypophosphatemia, dental anomalies, and ectopic calcification. Rafaelsen SH, etal., J Bone Miner Res. 2013 Jun;28(6):1378-85. doi: 10.1002/jbmr.1850.
5. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
6. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
7. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
8. Mutations in FAM20C are associated with lethal osteosclerotic bone dysplasia (Raine syndrome), highlighting a crucial molecule in bone development. Simpson MA, etal., Am J Hum Genet. 2007 Nov;81(5):906-12. Epub 2007 Sep 14.
9. Amelogenesis imperfecta and other biomineralization defects in Fam20a and Fam20c null mice. Vogel P, etal., Vet Pathol. 2012 Nov;49(6):998-1017. doi: 10.1177/0300985812453177. Epub 2012 Jun 25.
10. Inactivation of a novel FGF23 regulator, FAM20C, leads to hypophosphatemic rickets in mice. Wang X, etal., PLoS Genet. 2012;8(5):e1002708. doi: 10.1371/journal.pgen.1002708. Epub 2012 May 17.
11. Transcriptomic characteristics of bronchoalveolar lavage fluid and peripheral blood mononuclear cells in COVID-19 patients. Xiong Y, etal., Emerg Microbes Infect. 2020 Dec;9(1):761-770. doi: 10.1080/22221751.2020.1747363.
Additional References at PubMed
PMID:12477932   PMID:12690205   PMID:14702039   PMID:15489334   PMID:15676076   PMID:17369251   PMID:19056867   PMID:19199708   PMID:19250384   PMID:20643727   PMID:20825432   PMID:21873635  
PMID:21900206   PMID:22582013   PMID:22900076   PMID:23754375   PMID:24039075   PMID:24706917   PMID:24982027   PMID:25026495   PMID:25085501   PMID:25789606   PMID:25862977   PMID:25936777  
PMID:26091039   PMID:26324849   PMID:27667191   PMID:27862258   PMID:28236661   PMID:28784772   PMID:28926103   PMID:29117863   PMID:29277934   PMID:29676528   PMID:29751744   PMID:29858230  
PMID:29987050   PMID:30021884   PMID:30561431   PMID:30864273   PMID:31297960   PMID:32093234   PMID:32149426   PMID:32386320   PMID:32422653   PMID:32513696   PMID:32830861   PMID:33051588  
PMID:33306121   PMID:33759783   PMID:33845483   PMID:33961781   PMID:34349020   PMID:34360805   PMID:34433585  


Genomics

Comparative Map Data
FAM20C
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh387192,571 - 260,772 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl7192,571 - 260,772 (+)EnsemblGRCh38hg38GRCh38
GRCh377192,571 - 300,738 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 367288,052 - 304,059 (+)NCBINCBI36Build 36hg18NCBI36
Build 347288,195 - 304,059NCBI
Celera7211,215 - 273,622 (+)NCBICelera
Cytogenetic Map7p22.3NCBI
HuRef7203,619 - 219,084 (+)NCBIHuRef
HuRef7155,848 - 180,386 (+)NCBIHuRef
CHM1_17192,335 - 299,664 (+)NCBICHM1_1
T2T-CHM13v2.07293,238 - 360,993 (+)NCBIT2T-CHM13v2.0
CRA_TCAGchr7v27303,573 - 364,808 (+)NCBI
Fam20c
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm395138,740,836 - 138,795,818 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl5138,740,269 - 138,795,832 (+)EnsemblGRCm39 Ensembl
GRCm385138,755,081 - 138,810,063 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl5138,754,514 - 138,810,077 (+)EnsemblGRCm38mm10GRCm38
MGSCv375139,231,035 - 139,286,017 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv365139,008,742 - 139,063,705 (+)NCBIMGSCv36mm8
Celera5135,807,755 - 135,865,362 (+)NCBICelera
Cytogenetic Map5G2NCBI
Fam20c
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21215,826,864 - 15,885,423 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1215,826,871 - 15,884,543 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1216,638,165 - 16,695,811 (-)NCBIRnor_SHR
UTH_Rnor_SHRSP_BbbUtx_1.01217,261,890 - 17,319,536 (-)NCBIRnor_SHRSP
UTH_Rnor_WKY_Bbb_1.01216,284,652 - 16,341,671 (-)NCBIRnor_WKY
Rnor_6.01217,913,771 - 17,972,733 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1217,913,767 - 17,972,737 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01219,906,233 - 19,965,797 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41216,340,407 - 16,399,325 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11216,371,029 - 16,473,541 (-)NCBI
Celera1217,578,522 - 17,635,987 (-)NCBICelera
Cytogenetic Map12q11NCBI
Fam20c
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554608,143,824 - 8,193,825 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554608,142,325 - 8,192,044 (+)NCBIChiLan1.0ChiLan1.0
FAM20C
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.17575,633 - 635,643 (+)NCBIpanpan1.1PanPan1.1panPan2
Mhudiblu_PPA_v07311,468 - 394,623 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
FAM20C
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1616,448,603 - 16,497,064 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl616,448,588 - 16,497,752 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha617,920,483 - 17,969,286 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0616,577,996 - 16,626,815 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl616,578,012 - 16,628,609 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1616,380,418 - 16,429,206 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0616,306,905 - 16,355,670 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0616,596,937 - 16,645,742 (-)NCBIUU_Cfam_GSD_1.0
Fam20c
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024409344144,360,748 - 144,413,468 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936754596,872 - 653,098 (+)EnsemblSpeTri2.0
SpeTri2.0NW_004936754596,878 - 649,585 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
FAM20C
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl3163,421 - 200,459 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.13159,107 - 200,462 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2389,974 - 94,208 (+)NCBISscrofa10.2Sscrofa10.2susScr3
LOC103246914
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12821,299,235 - 21,371,603 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2821,299,213 - 21,371,577 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666090190,813 - 259,923 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Fam20c
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462474025,984,091 - 26,032,649 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462474025,984,642 - 26,032,089 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in FAM20C
259 total Variants
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1704
Count of miRNA genes:825
Interacting mature miRNAs:994
Transcripts:ENST00000313766, ENST00000471328, ENST00000477004, ENST00000512382, ENST00000515795
Prediction methods:Microtar, 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
SHGC-146618  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377209,262 - 209,545UniSTSGRCh37
Build 367304,345 - 304,628RGDNCBI36
Celera7228,293 - 228,576RGD
Cytogenetic Map7p22.3UniSTS
HuRef7172,243 - 172,526UniSTS
CRA_TCAGchr7v27319,875 - 320,158UniSTS
TNG Radiation Hybrid Map7669.0UniSTS
SHGC-148600  
Human AssemblyChrPosition (strand)SourceJBrowse
Celera7253,802 - 254,084RGD
Cytogenetic Map7p22.3UniSTS
HuRef7198,522 - 198,804UniSTS
CRA_TCAGchr7v27345,288 - 345,570UniSTS
TNG Radiation Hybrid Map7646.0UniSTS
HSC178_(GAP_665_G)  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377217,419 - 218,210UniSTSGRCh37
Build 367312,502 - 313,293RGDNCBI36
Celera7235,788 - 236,553RGD
Cytogenetic Map7p22.3UniSTS
HuRef7179,519 - 180,310UniSTS
CRA_TCAGchr7v27327,112 - 327,910UniSTS
HSC179_(GAP_397_G)  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377293,732 - 294,325UniSTSGRCh37
Celera7266,417 - 267,236UniSTS
Cytogenetic Map7p22.3UniSTS
HuRef7210,940 - 211,890UniSTS
CRA_TCAGchr7v27357,796 - 358,393UniSTS
RH12122  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377200,462 - 200,600UniSTSGRCh37
Build 367295,545 - 295,683RGDNCBI36
Celera7218,708 - 218,846RGD
Cytogenetic Map7p22.3UniSTS
HuRef7163,341 - 163,479UniSTS
CRA_TCAGchr7v27311,066 - 311,204UniSTS
GeneMap99-GB4 RH Map78.32UniSTS


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 2
Medium 2310 2126 1688 603 527 446 4222 1931 3326 369 1362 1523 169 1 1204 2701 2 2
Low 79 843 33 20 825 17 122 262 403 45 87 57 6 87 2
Below cutoff 17 17 4 1 117 2 5 3 2 4 7 9

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_033970 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_020223 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017012450 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017012451 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017012452 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017012453 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017012454 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017012455 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047420625 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001744837 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_007060116 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_007060117 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_242097 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA135568 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB545605 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  ABBA01015547 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  ABBA01039274 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC093627 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC145676 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC187652 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AEKP01153555 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AEKP01153556 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF533706 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK026140 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK054704 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK125281 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL390137 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL390147 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC009531 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC040074 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC068086 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC087853 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ026938 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH236966 (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
  LJII02000191 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000313766   ⟹   ENSP00000322323
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl7192,571 - 260,772 (+)Ensembl
RefSeq Acc Id: ENST00000471328
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl7195,625 - 197,575 (+)Ensembl
RefSeq Acc Id: ENST00000477004
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl7195,242 - 208,976 (+)Ensembl
RefSeq Acc Id: ENST00000512382
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl7256,195 - 257,453 (+)Ensembl
RefSeq Acc Id: ENST00000515795
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl7245,895 - 260,745 (+)Ensembl
RefSeq Acc Id: NM_020223   ⟹   NP_064608
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387192,571 - 260,772 (+)NCBI
GRCh377192,969 - 300,740 (+)NCBI
Build 367288,052 - 304,059 (+)NCBI Archive
Celera7211,215 - 273,622 (+)RGD
HuRef7155,848 - 180,386 (+)ENTREZGENE
HuRef7203,619 - 219,084 (+)NCBI
CHM1_17192,335 - 299,664 (+)NCBI
T2T-CHM13v2.07293,238 - 360,993 (+)NCBI
CRA_TCAGchr7v27303,573 - 364,808 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047420625   ⟹   XP_047276581
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387192,571 - 200,683 (+)NCBI
RefSeq Acc Id: XR_001744837
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387192,571 - 255,935 (+)NCBI
Sequence:
RefSeq Acc Id: XR_007060116
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387192,571 - 255,935 (+)NCBI
RefSeq Acc Id: XR_007060117
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387192,571 - 255,949 (+)NCBI
Reference Sequences
RefSeq Acc Id: NP_064608   ⟸   NM_020223
- Peptide Label: precursor
- UniProtKB: Q9NPT2 (UniProtKB/Swiss-Prot),   Q8IXL6 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000322323   ⟸   ENST00000313766
RefSeq Acc Id: XP_047276581   ⟸   XM_047420625
- Peptide Label: isoform X1

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q8IXL6-F1-model_v2 AlphaFold Q8IXL6 1-584 view protein structure

Promoters
RGD ID:7209721
Promoter ID:EPDNEW_H10606
Type:initiation region
Name:FAM20C_1
Description:FAM20C, golgi associated secretory pathway kinase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh387192,886 - 192,946EPDNEW
RGD ID:6805652
Promoter ID:HG_KWN:55896
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   NB4
Transcripts:ENST00000313766
Position:
Human AssemblyChrPosition (strand)Source
Build 367287,299 - 287,799 (+)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_020223.4(FAM20C):c.1351G>A (p.Asp451Asn) single nucleotide variant Lethal osteosclerotic bone dysplasia [RCV000023860] Chr7:256751 [GRCh38]
Chr7:296717 [GRCh37]
Chr7:7p22.3
pathogenic
NM_020223.4(FAM20C):c.737T>A (p.Ile246Asn) single nucleotide variant Lethal osteosclerotic bone dysplasia [RCV000023861] Chr7:195685 [GRCh38]
Chr7:195685 [GRCh37]
Chr7:7p22.3
pathogenic
NM_020223.4(FAM20C):c.796G>A (p.Gly266Arg) single nucleotide variant Lethal osteosclerotic bone dysplasia [RCV000023862] Chr7:208909 [GRCh38]
Chr7:208909 [GRCh37]
Chr7:7p22.3
pathogenic
NM_020223.4(FAM20C):c.982C>T (p.Pro328Ser) single nucleotide variant Lethal osteosclerotic bone dysplasia [RCV000023863] Chr7:248340 [GRCh38]
Chr7:288306 [GRCh37]
Chr7:7p22.3
pathogenic
NM_020223.4(FAM20C):c.1163T>G (p.Leu388Arg) single nucleotide variant Lethal osteosclerotic bone dysplasia [RCV000001079] Chr7:255939 [GRCh38]
Chr7:295905 [GRCh37]
Chr7:7p22.3
pathogenic
NM_020223.4(FAM20C):c.1645C>T (p.Arg549Trp) single nucleotide variant Lethal osteosclerotic bone dysplasia [RCV000001080] Chr7:259870 [GRCh38]
Chr7:299836 [GRCh37]
Chr7:7p22.3
pathogenic
NM_020223.4(FAM20C):c.957-3C>G single nucleotide variant Lethal osteosclerotic bone dysplasia [RCV000001081] Chr7:248312 [GRCh38]
Chr7:288278 [GRCh37]
Chr7:7p22.3
pathogenic
NM_020223.4(FAM20C):c.1136G>A (p.Gly379Glu) single nucleotide variant Lethal osteosclerotic bone dysplasia [RCV000001082] Chr7:255912 [GRCh38]
Chr7:295878 [GRCh37]
Chr7:7p22.3
pathogenic
NM_020223.4(FAM20C):c.1364-2A>G single nucleotide variant Lethal osteosclerotic bone dysplasia [RCV000001083] Chr7:257003 [GRCh38]
Chr7:296969 [GRCh37]
Chr7:7p22.3
pathogenic
NM_020223.4(FAM20C):c.956+5G>C single nucleotide variant Lethal osteosclerotic bone dysplasia [RCV000001084] Chr7:246512 [GRCh38]
Chr7:286478 [GRCh37]
Chr7:7p22.3
pathogenic
NM_020223.4(FAM20C):c.1446-1G>A single nucleotide variant Lethal osteosclerotic bone dysplasia [RCV000001085] Chr7:258645 [GRCh38]
Chr7:298611 [GRCh37]
Chr7:7p22.3
pathogenic
NM_020223.4(FAM20C):c.346_347insT (p.Pro116fs) insertion not provided [RCV000722335] Chr7:193545..193546 [GRCh38]
Chr7:193545..193546 [GRCh37]
Chr7:7p22.3
uncertain significance
NM_020223.4(FAM20C):c.1299G>A (p.Pro433=) single nucleotide variant not provided [RCV000728904] Chr7:256699 [GRCh38]
Chr7:296665 [GRCh37]
Chr7:7p22.3
conflicting interpretations of pathogenicity|uncertain significance
NM_020223.4(FAM20C):c.1609G>A (p.Val537Met) single nucleotide variant not provided [RCV000729625] Chr7:259834 [GRCh38]
Chr7:299800 [GRCh37]
Chr7:7p22.3
uncertain significance
NM_020223.4(FAM20C):c.915C>T (p.Tyr305=) single nucleotide variant not provided [RCV000594023] Chr7:246466 [GRCh38]
Chr7:286432 [GRCh37]
Chr7:7p22.3
uncertain significance
NM_020223.4(FAM20C):c.1093G>C (p.Gly365Arg) single nucleotide variant Lethal osteosclerotic bone dysplasia [RCV000001078] Chr7:255869 [GRCh38]
Chr7:295835 [GRCh37]
Chr7:7p22.3
pathogenic
GRCh38/hg38 7p22.3(chr7:101528-227833)x3 copy number gain See cases [RCV000050292] Chr7:101528..227833 [GRCh38]
Chr7:101528..227833 [GRCh37]
Chr7:196611..322916 [NCBI36]
Chr7:7p22.3
benign
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(chr7:54185-1843584)x1 copy number loss See cases [RCV000052253] Chr7:54185..1843584 [GRCh38]
Chr7:54185..1883220 [GRCh37]
Chr7:149268..1849746 [NCBI36]
Chr7:7p22.3
pathogenic|likely pathogenic|conflicting data from submitters
GRCh38/hg38 7p22.3(chr7:54185-1441125)x1 copy number loss See cases [RCV000052254] Chr7:54185..1441125 [GRCh38]
Chr7:54185..1480761 [GRCh37]
Chr7:149268..1447287 [NCBI36]
Chr7:7p22.3
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-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(chr7:170366-227833)x1 copy number loss See cases [RCV000052652] Chr7:170366..227833 [GRCh38]
Chr7:170366..227833 [GRCh37]
Chr7:265449..322916 [NCBI36]
Chr7:7p22.3
uncertain significance
NM_020223.4(FAM20C):c.46G>T (p.Val16Leu) single nucleotide variant not provided [RCV000224610]|not specified [RCV000173495] Chr7:193245 [GRCh38]
Chr7:193245 [GRCh37]
Chr7:7p22.3
benign
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
NM_020223.4(FAM20C):c.1681G>A (p.Val561Met) single nucleotide variant not provided [RCV000224271]|not specified [RCV000173883] Chr7:259906 [GRCh38]
Chr7:299872 [GRCh37]
Chr7:7p22.3
benign|likely benign
NM_020223.4(FAM20C):c.1659G>T (p.Val553=) single nucleotide variant Lethal osteosclerotic bone dysplasia [RCV001544312]|not provided [RCV001518333]|not specified [RCV000173884] Chr7:259884 [GRCh38]
Chr7:299850 [GRCh37]
Chr7:7p22.3
benign
NM_020223.4(FAM20C):c.1690A>G (p.Asn564Asp) single nucleotide variant Lethal osteosclerotic bone dysplasia [RCV001544313]|not provided [RCV001518334]|not specified [RCV000173885] Chr7:259915 [GRCh38]
Chr7:299881 [GRCh37]
Chr7:7p22.3
benign
NM_020223.4(FAM20C):c.646G>A (p.Gly216Arg) single nucleotide variant not provided [RCV000957599]|not specified [RCV000175916] Chr7:195594 [GRCh38]
Chr7:195594 [GRCh37]
Chr7:7p22.3
benign
NM_020223.4(FAM20C):c.604T>G (p.Trp202Gly) single nucleotide variant not provided [RCV000173494] Chr7:193803 [GRCh38]
Chr7:193803 [GRCh37]
Chr7:7p22.3
uncertain significance
GRCh38/hg38 7p22.3(chr7:54185-1206119)x3 copy number gain See cases [RCV000134140] Chr7:54185..1206119 [GRCh38]
Chr7:54185..1245755 [GRCh37]
Chr7:149268..1212281 [NCBI36]
Chr7:7p22.3
uncertain significance
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 7p22.3-22.1(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(chr7:54185-1331046)x1 copy number loss See cases [RCV000137163] Chr7:54185..1331046 [GRCh38]
Chr7:54185..1370682 [GRCh37]
Chr7:149268..1337208 [NCBI36]
Chr7:7p22.3
pathogenic|uncertain significance
GRCh38/hg38 7p22.3(chr7:10239-229852)x3 copy number gain See cases [RCV000137182] Chr7:10239..229852 [GRCh38]
Chr7:10239..229852 [GRCh37]
Chr7:49268..324935 [NCBI36]
Chr7:7p22.3
benign
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(chr7:54165-725325)x1 copy number loss See cases [RCV000138846] Chr7:54165..725325 [GRCh38]
Chr7:54165..764962 [GRCh37]
Chr7:149248..731488 [NCBI36]
Chr7:7p22.3
pathogenic
GRCh38/hg38 7p22.3(chr7:45130-821632)x1 copy number loss See cases [RCV000138365] Chr7:45130..821632 [GRCh38]
Chr7:45130..861269 [GRCh37]
Chr7:140213..827795 [NCBI36]
Chr7:7p22.3
uncertain significance
GRCh38/hg38 7p22.3(chr7:54165-227860)x3 copy number gain See cases [RCV000139289] Chr7:54165..227860 [GRCh38]
Chr7:54165..227860 [GRCh37]
Chr7:149248..322943 [NCBI36]
Chr7:7p22.3
likely benign
GRCh38/hg38 7p22.3(chr7:54165-214573)x1 copy number loss See cases [RCV000138983] Chr7:54165..214573 [GRCh38]
Chr7:54165..214573 [GRCh37]
Chr7:149248..309656 [NCBI36]
Chr7:7p22.3
benign
GRCh38/hg38 7p22.3(chr7:36480-227774)x3 copy number gain See cases [RCV000140267] Chr7:36480..227774 [GRCh38]
Chr7:36480..227774 [GRCh37]
Chr7:131564..322857 [NCBI36]
Chr7:7p22.3
benign
GRCh38/hg38 7p22.3(chr7:127155-214573)x3 copy number gain See cases [RCV000139538] Chr7:127155..214573 [GRCh38]
Chr7:127155..214573 [GRCh37]
Chr7:222238..309656 [NCBI36]
Chr7:7p22.3
benign
GRCh38/hg38 7p22.3(chr7:183570-229852)x3 copy number gain See cases [RCV000141514] Chr7:183570..229852 [GRCh38]
Chr7:183570..229852 [GRCh37]
Chr7:278653..324935 [NCBI36]
Chr7:7p22.3
benign
GRCh38/hg38 7p22.3(chr7:214514-229824)x1 copy number loss See cases [RCV000143028] Chr7:214514..229824 [GRCh38]
Chr7:214514..229824 [GRCh37]
Chr7:309597..324907 [NCBI36]
Chr7:7p22.3
benign
GRCh38/hg38 7p22.3(chr7:94063-227860)x3 copy number gain See cases [RCV000142820] Chr7:94063..227860 [GRCh38]
Chr7:94063..227860 [GRCh37]
Chr7:189146..322943 [NCBI36]
Chr7:7p22.3
likely benign
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(chr7:45130-1298050)x1 copy number loss See cases [RCV000143341] Chr7:45130..1298050 [GRCh38]
Chr7:45130..1337686 [GRCh37]
Chr7:140213..1304212 [NCBI36]
Chr7:7p22.3
uncertain significance
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 7p22.3-15.2(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
GRCh38/hg38 7p22.3(chr7:101528-227833)x3 copy number gain See cases [RCV000148239] Chr7:101528..227833 [GRCh38]
Chr7:101528..227833 [GRCh37]
Chr7:196611..322916 [NCBI36]
Chr7:7p22.3
benign
GRCh38/hg38 7p22.3(chr7:54185-1843584)x1 copy number loss See cases [RCV000148193] Chr7:54185..1843584 [GRCh38]
Chr7:54185..1883220 [GRCh37]
Chr7:149268..1849746 [NCBI36]
Chr7:7p22.3
pathogenic
NM_020223.4(FAM20C):c.1225C>T (p.Arg409Cys) single nucleotide variant Neonatal death [RCV000162130] Chr7:256001 [GRCh38]
Chr7:295967 [GRCh37]
Chr7:7p22.3
likely pathogenic
NM_020223.4(FAM20C):c.1505+5A>G single nucleotide variant not provided [RCV000180669] Chr7:258710 [GRCh38]
Chr7:298676 [GRCh37]
Chr7:7p22.3
uncertain significance
NM_020223.4(FAM20C):c.795G>A (p.Ser265=) single nucleotide variant not provided [RCV000177315] Chr7:208908 [GRCh38]
Chr7:208908 [GRCh37]
Chr7:7p22.3
conflicting interpretations of pathogenicity|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_020223.4(FAM20C):c.252C>A (p.Asn84Lys) single nucleotide variant not provided [RCV000224835] Chr7:193451 [GRCh38]
Chr7:193451 [GRCh37]
Chr7:7p22.3
uncertain significance
NM_020223.4(FAM20C):c.200C>A (p.Pro67His) single nucleotide variant not specified [RCV000270050] Chr7:193399 [GRCh38]
Chr7:193399 [GRCh37]
Chr7:7p22.3
likely benign
NM_020223.4(FAM20C):c.885A>G (p.Thr295=) single nucleotide variant Lethal osteosclerotic bone dysplasia [RCV001544305]|not provided [RCV001515724]|not specified [RCV000303341] Chr7:246436 [GRCh38]
Chr7:286402 [GRCh37]
Chr7:7p22.3
benign
NM_020223.4(FAM20C):c.1152C>T (p.Ile384=) single nucleotide variant not provided [RCV000310121] Chr7:255928 [GRCh38]
Chr7:295894 [GRCh37]
Chr7:7p22.3
conflicting interpretations of pathogenicity|uncertain significance
NM_020223.4(FAM20C):c.1652G>A (p.Arg551His) single nucleotide variant not provided [RCV001517707]|not specified [RCV000353679] Chr7:259877 [GRCh38]
Chr7:299843 [GRCh37]
Chr7:7p22.3
benign|likely benign
NM_020223.4(FAM20C):c.1672C>T (p.Arg558Trp) single nucleotide variant not provided [RCV001517057]|not specified [RCV000260505] Chr7:259897 [GRCh38]
Chr7:299863 [GRCh37]
Chr7:7p22.3
benign
NM_020223.4(FAM20C):c.174C>A (p.Pro58=) single nucleotide variant not provided [RCV000398275] Chr7:193373 [GRCh38]
Chr7:193373 [GRCh37]
Chr7:7p22.3
conflicting interpretations of pathogenicity|uncertain significance
NM_020223.4(FAM20C):c.1228T>A (p.Ser410Thr) single nucleotide variant Lethal osteosclerotic bone dysplasia [RCV000496013]|not provided [RCV000891056]|not specified [RCV000266473] Chr7:256004 [GRCh38]
Chr7:295970 [GRCh37]
Chr7:7p22.3
likely pathogenic|benign|likely benign
NM_020223.4(FAM20C):c.1096G>A (p.Glu366Lys) single nucleotide variant not provided [RCV000267164] Chr7:255872 [GRCh38]
Chr7:295838 [GRCh37]
Chr7:7p22.3
uncertain significance
NM_020223.4(FAM20C):c.*30G>A single nucleotide variant Lethal osteosclerotic bone dysplasia [RCV001544314]|not provided [RCV001597304] Chr7:260010 [GRCh38]
Chr7:299976 [GRCh37]
Chr7:7p22.3
benign
NM_020223.4(FAM20C):c.1415C>T (p.Thr472Met) single nucleotide variant not provided [RCV000723212] Chr7:257056 [GRCh38]
Chr7:297022 [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
NM_020223.4(FAM20C):c.953_956+30dup duplication Lethal osteosclerotic bone dysplasia [RCV000987813]|not provided [RCV000948320]|not specified [RCV000454641] Chr7:246502..246503 [GRCh38]
Chr7:286468..286469 [GRCh37]
Chr7:7p22.3
benign
NM_020223.4(FAM20C):c.1705G>A (p.Val569Met) single nucleotide variant not provided [RCV000486633] Chr7:259930 [GRCh38]
Chr7:299896 [GRCh37]
Chr7:7p22.3
uncertain significance
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
NM_020223.4(FAM20C):c.739G>A (p.Glu247Lys) single nucleotide variant not provided [RCV000497371] Chr7:195687 [GRCh38]
Chr7:195687 [GRCh37]
Chr7:7p22.3
uncertain significance
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
NM_020223.4(FAM20C):c.1680C>A (p.Cys560Ter) single nucleotide variant Lethal osteosclerotic bone dysplasia [RCV000511478] Chr7:259905 [GRCh38]
Chr7:299871 [GRCh37]
Chr7:7p22.3
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(chr7:43360-231132)x1 copy number loss See cases [RCV000511273] Chr7:43360..231132 [GRCh37]
Chr7:7p22.3
uncertain significance
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_020223.4(FAM20C):c.1218T>A (p.Pro406=) single nucleotide variant not provided [RCV001515725]|not specified [RCV000609432] Chr7:255994 [GRCh38]
Chr7:295960 [GRCh37]
Chr7:7p22.3
benign|likely benign
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
NM_020223.4(FAM20C):c.1363+4C>T single nucleotide variant not provided [RCV000597145] Chr7:256767 [GRCh38]
Chr7:296733 [GRCh37]
Chr7:7p22.3
uncertain significance
GRCh37/hg19 7p22.3(chr7:43360-2057743)x1 copy number loss See cases [RCV000512381] Chr7:43360..2057743 [GRCh37]
Chr7:7p22.3
likely pathogenic
GRCh37/hg19 7p22.3(chr7:43360-230772)x1 copy number loss not provided [RCV000682805] Chr7:43360..230772 [GRCh37]
Chr7:7p22.3
uncertain significance
NM_020223.4(FAM20C):c.344del (p.Glu115fs) deletion not provided [RCV000722334] Chr7:193543 [GRCh38]
Chr7:193543 [GRCh37]
Chr7:7p22.3
uncertain significance
NM_020223.4(FAM20C):c.1254-63T>C single nucleotide variant Lethal osteosclerotic bone dysplasia [RCV001544309]|not provided [RCV001676048] Chr7:256591 [GRCh38]
Chr7:296557 [GRCh37]
Chr7:7p22.3
benign
NM_020223.4(FAM20C):c.1446-201_1446-200insA insertion not provided [RCV001732299] Chr7:258445..258446 [GRCh38]
Chr7:298411..298412 [GRCh37]
Chr7:7p22.3
likely benign
NM_020223.4(FAM20C):c.1446-211G>A single nucleotide variant not provided [RCV001732433] Chr7:258435 [GRCh38]
Chr7:298401 [GRCh37]
Chr7:7p22.3
likely benign
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-q36.3(chr7:44935-159126310)x3 copy number gain not provided [RCV000746280] Chr7:44935..159126310 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7p22.3-21.3(chr7:10239-13116278)x3 copy number gain not provided [RCV000746277] Chr7:10239..13116278 [GRCh37]
Chr7:7p22.3-21.3
pathogenic
GRCh37/hg19 7p22.3(chr7:44935-511203)x3 copy number gain not provided [RCV000746279] Chr7:44935..511203 [GRCh37]
Chr7:7p22.3
benign
GRCh37/hg19 7p22.3(chr7:94119-295834)x3 copy number gain not provided [RCV000746281] Chr7:94119..295834 [GRCh37]
Chr7:7p22.3
benign
GRCh37/hg19 7p22.3(chr7:149765-679369)x3 copy number gain not provided [RCV000746282] Chr7:149765..679369 [GRCh37]
Chr7:7p22.3
benign
GRCh37/hg19 7p22.3(chr7:207168-215943)x1 copy number loss not provided [RCV000746283] Chr7:207168..215943 [GRCh37]
Chr7:7p22.3
benign
GRCh37/hg19 7p22.3(chr7:215407-226053)x1 copy number loss not provided [RCV000746284] Chr7:215407..226053 [GRCh37]
Chr7:7p22.3
benign
NM_020223.4(FAM20C):c.1254-118G>A single nucleotide variant not provided [RCV001680250] Chr7:256536 [GRCh38]
Chr7:296502 [GRCh37]
Chr7:7p22.3
benign
NM_020223.4(FAM20C):c.1446-236G>A single nucleotide variant not provided [RCV001691235] Chr7:258410 [GRCh38]
Chr7:298376 [GRCh37]
Chr7:7p22.3
benign
NM_020223.4(FAM20C):c.956+59T>C single nucleotide variant not provided [RCV001648446] Chr7:246566 [GRCh38]
Chr7:286532 [GRCh37]
Chr7:7p22.3
benign
NM_020223.4(FAM20C):c.1506-55G>A single nucleotide variant Lethal osteosclerotic bone dysplasia [RCV001544311]|not provided [RCV001598693] Chr7:259676 [GRCh38]
Chr7:299642 [GRCh37]
Chr7:7p22.3
benign
NM_020223.4(FAM20C):c.957-5G>C single nucleotide variant not provided [RCV000917638] Chr7:248310 [GRCh38]
Chr7:288276 [GRCh37]
Chr7:7p22.3
likely benign
NM_020223.4(FAM20C):c.1455G>A (p.Lys485=) single nucleotide variant not provided [RCV000897357] Chr7:258655 [GRCh38]
Chr7:298621 [GRCh37]
Chr7:7p22.3
likely benign
NM_020223.4(FAM20C):c.864-187T>G single nucleotide variant not provided [RCV001667291] Chr7:246228 [GRCh38]
Chr7:286194 [GRCh37]
Chr7:7p22.3
benign
NM_020223.4(FAM20C):c.957-113_957-112insCAGCCCCACAGAGCACAGACCCTCCCCTGCCCCGTTCTTATTTGGAGGCAGGGAAACAGAGGCCCGCT insertion not provided [RCV001680748] Chr7:248189..248190 [GRCh38]
Chr7:288155..288156 [GRCh37]
Chr7:7p22.3
benign
NM_020223.4(FAM20C):c.1446-179_1446-144del microsatellite not provided [RCV001679515] Chr7:258418..258453 [GRCh38]
Chr7:298384..298419 [GRCh37]
Chr7:7p22.3
benign
NM_020223.4(FAM20C):c.863+10G>A single nucleotide variant not provided [RCV000900363] Chr7:208986 [GRCh38]
Chr7:208986 [GRCh37]
Chr7:7p22.3
likely benign
NM_020223.4(FAM20C):c.23G>A (p.Arg8Gln) single nucleotide variant not provided [RCV000898387] Chr7:193222 [GRCh38]
Chr7:193222 [GRCh37]
Chr7:7p22.3
likely benign
NM_020223.4(FAM20C):c.1364-5C>T single nucleotide variant not provided [RCV000915006] Chr7:257000 [GRCh38]
Chr7:296966 [GRCh37]
Chr7:7p22.3
likely benign
NM_020223.4(FAM20C):c.1350C>T (p.Phe450=) single nucleotide variant not provided [RCV000969521] Chr7:256750 [GRCh38]
Chr7:296716 [GRCh37]
Chr7:7p22.3
benign
NM_020223.4(FAM20C):c.1623G>A (p.Pro541=) single nucleotide variant not provided [RCV000898201] Chr7:259848 [GRCh38]
Chr7:299814 [GRCh37]
Chr7:7p22.3
likely benign
NM_020223.4(FAM20C):c.708C>T (p.Tyr236=) single nucleotide variant not provided [RCV000883509] Chr7:195656 [GRCh38]
Chr7:195656 [GRCh37]
Chr7:7p22.3
likely benign
NM_020223.4(FAM20C):c.641C>A (p.Ser214Tyr) single nucleotide variant not provided [RCV001044976] Chr7:195589 [GRCh38]
Chr7:195589 [GRCh37]
Chr7:7p22.3
uncertain significance
NM_020223.4(FAM20C):c.1344G>A (p.Thr448=) single nucleotide variant not provided [RCV000936422] Chr7:256744 [GRCh38]
Chr7:296710 [GRCh37]
Chr7:7p22.3
likely benign
NM_020223.4(FAM20C):c.1092C>T (p.Tyr364=) single nucleotide variant not provided [RCV000968106] Chr7:255868 [GRCh38]
Chr7:295834 [GRCh37]
Chr7:7p22.3
benign
NM_020223.4(FAM20C):c.1323C>T (p.Ile441=) single nucleotide variant not provided [RCV000894928] Chr7:256723 [GRCh38]
Chr7:296689 [GRCh37]
Chr7:7p22.3
likely benign
NM_020223.4(FAM20C):c.6G>A (p.Lys2=) single nucleotide variant not provided [RCV000880470] Chr7:193205 [GRCh38]
Chr7:193205 [GRCh37]
Chr7:7p22.3
likely benign
NM_020223.4(FAM20C):c.1488G>A (p.Pro496=) single nucleotide variant not provided [RCV000887408] Chr7:258688 [GRCh38]
Chr7:298654 [GRCh37]
Chr7:7p22.3
likely benign
NM_020223.4(FAM20C):c.956+66G>C single nucleotide variant not provided [RCV002280472] Chr7:246573 [GRCh38]
Chr7:286539 [GRCh37]
Chr7:7p22.3
likely benign
GRCh37/hg19 7p22.3(chr7:43360-1648288)x1 copy number loss not provided [RCV001005888] Chr7:43360..1648288 [GRCh37]
Chr7:7p22.3
pathogenic
NM_020223.4(FAM20C):c.1107C>T (p.Tyr369=) single nucleotide variant not provided [RCV000915631] Chr7:255883 [GRCh38]
Chr7:295849 [GRCh37]
Chr7:7p22.3
likely benign
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
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_020223.4(FAM20C):c.1327G>A (p.Asp443Asn) single nucleotide variant not provided [RCV001220779] Chr7:256727 [GRCh38]
Chr7:296693 [GRCh37]
Chr7:7p22.3
uncertain significance
NM_020223.4(FAM20C):c.1021C>T (p.Arg341Trp) single nucleotide variant not provided [RCV001225174] Chr7:248379 [GRCh38]
Chr7:288345 [GRCh37]
Chr7:7p22.3
uncertain significance
NM_020223.4(FAM20C):c.605+277C>T single nucleotide variant not provided [RCV001641892] Chr7:194081 [GRCh38]
Chr7:194081 [GRCh37]
Chr7:7p22.3
benign
NM_020223.4(FAM20C):c.1253+277C>T single nucleotide variant not provided [RCV001684006] Chr7:256306 [GRCh38]
Chr7:296272 [GRCh37]
Chr7:7p22.3
benign
NM_020223.4(FAM20C):c.1254-277T>G single nucleotide variant not provided [RCV001680771] Chr7:256377 [GRCh38]
Chr7:296343 [GRCh37]
Chr7:7p22.3
benign
NM_020223.4(FAM20C):c.864-283T>C single nucleotide variant not provided [RCV001673908] Chr7:246132 [GRCh38]
Chr7:286098 [GRCh37]
Chr7:7p22.3
benign
NM_020223.4(FAM20C):c.956+30_956+31insACAGGTGAGCCCTTCCTTCCTCCCTCCATCCGTG insertion not provided [RCV001651511] Chr7:246536..246537 [GRCh38]
Chr7:286502..286503 [GRCh37]
Chr7:7p22.3
benign
NM_020223.4(FAM20C):c.1073-191C>A single nucleotide variant not provided [RCV001608380] Chr7:255658 [GRCh38]
Chr7:295624 [GRCh37]
Chr7:7p22.3
benign
NM_020223.4(FAM20C):c.1072+272C>G single nucleotide variant not provided [RCV001651744] Chr7:248702 [GRCh38]
Chr7:288668 [GRCh37]
Chr7:7p22.3
benign
NM_020223.4(FAM20C):c.957-112G>C single nucleotide variant not provided [RCV001597948] Chr7:248203 [GRCh38]
Chr7:288169 [GRCh37]
Chr7:7p22.3
benign
NM_020223.4(FAM20C):c.957-179T>C single nucleotide variant not provided [RCV001685000] Chr7:248136 [GRCh38]
Chr7:288102 [GRCh37]
Chr7:7p22.3
benign
NM_020223.4(FAM20C):c.1506-138TC[5] microsatellite not provided [RCV001694052] Chr7:259592..259593 [GRCh38]
Chr7:299558..299559 [GRCh37]
Chr7:7p22.3
benign
NM_020223.4(FAM20C):c.*235G>A single nucleotide variant not provided [RCV001642044] Chr7:260215 [GRCh38]
Chr7:300181 [GRCh37]
Chr7:7p22.3
benign
NM_020223.4(FAM20C):c.1446-193A>G single nucleotide variant not provided [RCV001669207] Chr7:258453 [GRCh38]
Chr7:298419 [GRCh37]
Chr7:7p22.3
benign
NM_020223.4(FAM20C):c.957-107G>C single nucleotide variant not provided [RCV001656617] Chr7:248208 [GRCh38]
Chr7:288174 [GRCh37]
Chr7:7p22.3
benign
NM_020223.4(FAM20C):c.1072+178T>C single nucleotide variant not provided [RCV001620693] Chr7:248608 [GRCh38]
Chr7:288574 [GRCh37]
Chr7:7p22.3
benign
NM_020223.4(FAM20C):c.1254-119C>T single nucleotide variant not provided [RCV001541228] Chr7:256535 [GRCh38]
Chr7:296501 [GRCh37]
Chr7:7p22.3
benign
NM_020223.4(FAM20C):c.1446-233T>C single nucleotide variant not provided [RCV001620876] Chr7:258413 [GRCh38]
Chr7:298379 [GRCh37]
Chr7:7p22.3
benign
NM_020223.4(FAM20C):c.*41C>G single nucleotide variant Lethal osteosclerotic bone dysplasia [RCV001544315]|not provided [RCV001539612] Chr7:260021 [GRCh38]
Chr7:299987 [GRCh37]
Chr7:7p22.3
benign
NM_020223.4(FAM20C):c.1364-4G>A single nucleotide variant not provided [RCV000896473] Chr7:257001 [GRCh38]
Chr7:296967 [GRCh37]
Chr7:7p22.3
likely benign
NM_020223.4(FAM20C):c.1692C>T (p.Asn564=) single nucleotide variant not provided [RCV000923186] Chr7:259917 [GRCh38]
Chr7:299883 [GRCh37]
Chr7:7p22.3
likely benign
NM_020223.4(FAM20C):c.1077C>T (p.Asn359=) single nucleotide variant not provided [RCV000903284] Chr7:255853 [GRCh38]
Chr7:295819 [GRCh37]
Chr7:7p22.3
benign
NM_020223.4(FAM20C):c.1386C>T (p.Tyr462=) single nucleotide variant not provided [RCV000910891] Chr7:257027 [GRCh38]
Chr7:296993 [GRCh37]
Chr7:7p22.3
likely benign
NM_020223.4(FAM20C):c.731C>T (p.Pro244Leu) single nucleotide variant not provided [RCV000894361] Chr7:195679 [GRCh38]
Chr7:195679 [GRCh37]
Chr7:7p22.3
likely benign
NM_020223.4(FAM20C):c.733G>A (p.Ala245Thr) single nucleotide variant not provided [RCV000907610] Chr7:195681 [GRCh38]
Chr7:195681 [GRCh37]
Chr7:7p22.3
likely benign
NM_020223.4(FAM20C):c.320T>A (p.Leu107Gln) single nucleotide variant not provided [RCV001238579] Chr7:193519 [GRCh38]
Chr7:193519 [GRCh37]
Chr7:7p22.3
uncertain significance
NM_020223.4(FAM20C):c.434C>T (p.Pro145Leu) single nucleotide variant not provided [RCV001224387] Chr7:193633 [GRCh38]
Chr7:193633 [GRCh37]
Chr7:7p22.3
uncertain significance
NM_020223.4(FAM20C):c.304C>A (p.Leu102Ile) single nucleotide variant not provided [RCV001246610] Chr7:193503 [GRCh38]
Chr7:193503 [GRCh37]
Chr7:7p22.3
uncertain significance
NM_020223.4(FAM20C):c.1026C>T (p.Asp342=) single nucleotide variant not provided [RCV000890271] Chr7:248384 [GRCh38]
Chr7:288350 [GRCh37]
Chr7:7p22.3
benign
NM_020223.4(FAM20C):c.653C>T (p.Ala218Val) single nucleotide variant not provided [RCV000912221] Chr7:195601 [GRCh38]
Chr7:195601 [GRCh37]
Chr7:7p22.3
likely benign
NM_020223.4(FAM20C):c.1194C>T (p.Ala398=) single nucleotide variant not provided [RCV000934238] Chr7:255970 [GRCh38]
Chr7:295936 [GRCh37]
Chr7:7p22.3
likely benign
NM_020223.4(FAM20C):c.480C>T (p.Leu160=) single nucleotide variant not provided [RCV000912532]|not specified [RCV001818840] Chr7:193679 [GRCh38]
Chr7:193679 [GRCh37]
Chr7:7p22.3
likely benign
NM_020223.4(FAM20C):c.267C>T (p.Arg89=) single nucleotide variant not provided [RCV000956446] Chr7:193466 [GRCh38]
Chr7:193466 [GRCh37]
Chr7:7p22.3
likely benign
NM_020223.4(FAM20C):c.474C>T (p.Ala158=) single nucleotide variant not provided [RCV000912450] Chr7:193673 [GRCh38]
Chr7:193673 [GRCh37]
Chr7:7p22.3
likely benign
NM_020223.4(FAM20C):c.1505+223C>T single nucleotide variant not provided [RCV001641011] Chr7:258928 [GRCh38]
Chr7:298894 [GRCh37]
Chr7:7p22.3
benign
NM_020223.4(FAM20C):c.1506-263_1506-260dup duplication not provided [RCV001598034] Chr7:259464..259465 [GRCh38]
Chr7:299430..299431 [GRCh37]
Chr7:7p22.3
benign
NM_020223.4(FAM20C):c.863+259A>G single nucleotide variant not provided [RCV001595758] Chr7:209235 [GRCh38]
Chr7:209235 [GRCh37]
Chr7:7p22.3
benign
NM_020223.4(FAM20C):c.956+61A>G single nucleotide variant Lethal osteosclerotic bone dysplasia [RCV001544306]|not provided [RCV001619968] Chr7:246568 [GRCh38]
Chr7:286534 [GRCh37]
Chr7:7p22.3
benign
NM_020223.4(FAM20C):c.1073-287A>C single nucleotide variant not provided [RCV001608231] Chr7:255562 [GRCh38]
Chr7:295528 [GRCh37]
Chr7:7p22.3
benign
NM_020223.4(FAM20C):c.1446-232G>A single nucleotide variant not provided [RCV001659383] Chr7:258414 [GRCh38]
Chr7:298380 [GRCh37]
Chr7:7p22.3
benign
NM_020223.4(FAM20C):c.1446-247A>G single nucleotide variant not provided [RCV001678038] Chr7:258399 [GRCh38]
Chr7:298365 [GRCh37]
Chr7:7p22.3
benign
NM_020223.4(FAM20C):c.1446-99C>T single nucleotide variant not provided [RCV001696696] Chr7:258547 [GRCh38]
Chr7:298513 [GRCh37]
Chr7:7p22.3
benign
NM_020223.4(FAM20C):c.1073-285A>C single nucleotide variant not provided [RCV001676675] Chr7:255564 [GRCh38]
Chr7:295530 [GRCh37]
Chr7:7p22.3
benign
NM_020223.4(FAM20C):c.1445+53C>A single nucleotide variant not provided [RCV001677912] Chr7:257139 [GRCh38]
Chr7:297105 [GRCh37]
Chr7:7p22.3
benign
NM_020223.4(FAM20C):c.1505+136T>C single nucleotide variant not provided [RCV001656077] Chr7:258841 [GRCh38]
Chr7:298807 [GRCh37]
Chr7:7p22.3
benign
NM_020223.4(FAM20C):c.1505+240T>C single nucleotide variant not provided [RCV001617282] Chr7:258945 [GRCh38]
Chr7:298911 [GRCh37]
Chr7:7p22.3
benign
NM_020223.4(FAM20C):c.1445+186G>A single nucleotide variant not provided [RCV001686965] Chr7:257272 [GRCh38]
Chr7:297238 [GRCh37]
Chr7:7p22.3
benign
NM_020223.4(FAM20C):c.1072+105G>C single nucleotide variant not provided [RCV001677429] Chr7:248535 [GRCh38]
Chr7:288501 [GRCh37]
Chr7:7p22.3
benign
GRCh37/hg19 7p22.3(chr7:44935-1750797)x1 copy number loss See cases [RCV001007408] Chr7:44935..1750797 [GRCh37]
Chr7:7p22.3
pathogenic
NM_020223.4(FAM20C):c.1072+274C>T single nucleotide variant not provided [RCV001541064] Chr7:248704 [GRCh38]
Chr7:288670 [GRCh37]
Chr7:7p22.3
benign
NM_020223.4(FAM20C):c.*206G>A single nucleotide variant not provided [RCV001541255] Chr7:260186 [GRCh38]
Chr7:300152 [GRCh37]
Chr7:7p22.3
benign
NM_020223.4(FAM20C):c.1506-247T>C single nucleotide variant not provided [RCV001644268] Chr7:259484 [GRCh38]
Chr7:299450 [GRCh37]
Chr7:7p22.3
benign
NM_020223.4(FAM20C):c.-400G>A single nucleotide variant not provided [RCV001684162] Chr7:192800 [GRCh38]
Chr7:192800 [GRCh37]
Chr7:7p22.3
benign
NM_020223.4(FAM20C):c.1254-132G>A single nucleotide variant not provided [RCV001616792] Chr7:256522 [GRCh38]
Chr7:296488 [GRCh37]
Chr7:7p22.3
benign
NM_020223.4(FAM20C):c.1253+306C>T single nucleotide variant not provided [RCV001679041] Chr7:256335 [GRCh38]
Chr7:296301 [GRCh37]
Chr7:7p22.3
benign
NM_020223.4(FAM20C):c.1254-193A>G single nucleotide variant not provided [RCV001681150] Chr7:256461 [GRCh38]
Chr7:296427 [GRCh37]
Chr7:7p22.3
benign
NM_020223.4(FAM20C):c.1506-45A>G single nucleotide variant not provided [RCV001652412] Chr7:259686 [GRCh38]
Chr7:299652 [GRCh37]
Chr7:7p22.3
benign
NM_020223.4(FAM20C):c.864-267A>C single nucleotide variant not provided [RCV001696600] Chr7:246148 [GRCh38]
Chr7:286114 [GRCh37]
Chr7:7p22.3
benign
NM_020223.4(FAM20C):c.1505+201G>C single nucleotide variant not provided [RCV001708210] Chr7:258906 [GRCh38]
Chr7:298872 [GRCh37]
Chr7:7p22.3
benign
NM_020223.4(FAM20C):c.956+161G>C single nucleotide variant not provided [RCV001644176] Chr7:246668 [GRCh38]
Chr7:286634 [GRCh37]
Chr7:7p22.3
benign
NM_020223.4(FAM20C):c.1690A>C (p.Asn564His) single nucleotide variant not provided [RCV001204653] Chr7:259915 [GRCh38]
Chr7:299881 [GRCh37]
Chr7:7p22.3
uncertain significance
NM_020223.4(FAM20C):c.1375C>T (p.Arg459Cys) single nucleotide variant Lethal osteosclerotic bone dysplasia [RCV001196925] Chr7:257016 [GRCh38]
Chr7:296982 [GRCh37]
Chr7:7p22.3
uncertain significance
GRCh37/hg19 7p22.3(chr7:154720-230772)x1 copy number loss not provided [RCV001259992] Chr7:154720..230772 [GRCh37]
Chr7:7p22.3
likely benign
Single allele complex Ring chromosome 7 [RCV002280646] Chr7:43360..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
NM_020223.4(FAM20C):c.838G>A (p.Gly280Arg) single nucleotide variant Lethal osteosclerotic bone dysplasia [RCV001807890] Chr7:208951 [GRCh38]
Chr7:208951 [GRCh37]
Chr7:7p22.3
uncertain significance
NM_020223.4(FAM20C):c.1669G>A (p.Val557Ile) single nucleotide variant not provided [RCV001341689] Chr7:259894 [GRCh38]
Chr7:299860 [GRCh37]
Chr7:7p22.3
uncertain significance
NM_020223.4(FAM20C):c.863+82C>T single nucleotide variant not provided [RCV001786803] Chr7:209058 [GRCh38]
Chr7:209058 [GRCh37]
Chr7:7p22.3
likely benign
NM_020223.4(FAM20C):c.1652G>T (p.Arg551Leu) single nucleotide variant not provided [RCV001347265] Chr7:259877 [GRCh38]
Chr7:299843 [GRCh37]
Chr7:7p22.3
uncertain significance
NM_020223.4(FAM20C):c.631G>A (p.Glu211Lys) single nucleotide variant not provided [RCV001356573] Chr7:195579 [GRCh38]
Chr7:195579 [GRCh37]
Chr7:7p22.3
uncertain significance
NM_020223.4(FAM20C):c.1657G>A (p.Val553Met) single nucleotide variant not provided [RCV001363885] Chr7:259882 [GRCh38]
Chr7:299848 [GRCh37]
Chr7:7p22.3
uncertain significance
NC_000007.13:g.(?_193200)_(288396_?)dup duplication not provided [RCV001325421] Chr7:193200..288396 [GRCh37]
Chr7:7p22.3
uncertain significance
NM_020223.4(FAM20C):c.458G>A (p.Gly153Asp) single nucleotide variant not provided [RCV001349767] Chr7:193657 [GRCh38]
Chr7:193657 [GRCh37]
Chr7:7p22.3
uncertain significance
NM_020223.4(FAM20C):c.1608C>T (p.Pro536=) single nucleotide variant not provided [RCV001440817] Chr7:259833 [GRCh38]
Chr7:299799 [GRCh37]
Chr7:7p22.3
likely benign
NM_020223.4(FAM20C):c.1506-13del deletion not provided [RCV001519866] Chr7:259715 [GRCh38]
Chr7:299681 [GRCh37]
Chr7:7p22.3
benign
NM_020223.4(FAM20C):c.1305C>T (p.Tyr435=) single nucleotide variant not provided [RCV001521480] Chr7:256705 [GRCh38]
Chr7:296671 [GRCh37]
Chr7:7p22.3
benign|likely benign
NM_020223.4(FAM20C):c.1253+19G>A single nucleotide variant not provided [RCV001513434] Chr7:256048 [GRCh38]
Chr7:296014 [GRCh37]
Chr7:7p22.3
benign
NM_020223.4(FAM20C):c.606-7C>T single nucleotide variant not provided [RCV001471257] Chr7:195547 [GRCh38]
Chr7:195547 [GRCh37]
Chr7:7p22.3
likely benign
NM_020223.4(FAM20C):c.1073-46C>T single nucleotide variant not provided [RCV001608932] Chr7:255803 [GRCh38]
Chr7:295769 [GRCh37]
Chr7:7p22.3
benign
NM_020223.4(FAM20C):c.837C>T (p.Tyr279=) single nucleotide variant not provided [RCV001407219] Chr7:208950 [GRCh38]
Chr7:208950 [GRCh37]
Chr7:7p22.3
likely benign
NM_020223.4(FAM20C):c.1179C>T (p.Pro393=) single nucleotide variant not provided [RCV001436067] Chr7:255955 [GRCh38]
Chr7:295921 [GRCh37]
Chr7:7p22.3
likely benign
NM_020223.4(FAM20C):c.1446-215T>C single nucleotide variant not provided [RCV001534521] Chr7:258431 [GRCh38]
Chr7:298397 [GRCh37]
Chr7:7p22.3
benign
NM_020223.4(FAM20C):c.481C>T (p.Leu161=) single nucleotide variant not provided [RCV001401766] Chr7:193680 [GRCh38]
Chr7:193680 [GRCh37]
Chr7:7p22.3
likely benign
NM_020223.4(FAM20C):c.606-14G>A single nucleotide variant not provided [RCV001502183] Chr7:195540 [GRCh38]
Chr7:195540 [GRCh37]
Chr7:7p22.3
likely benign
NM_020223.4(FAM20C):c.1740C>T (p.Ala580=) single nucleotide variant not provided [RCV001518971] Chr7:259965 [GRCh38]
Chr7:299931 [GRCh37]
Chr7:7p22.3
benign
NM_020223.4(FAM20C):c.1749G>A (p.Ala583=) single nucleotide variant Lethal osteosclerotic bone dysplasia [RCV001703108]|not provided [RCV001519780] Chr7:259974 [GRCh38]
Chr7:299940 [GRCh37]
Chr7:7p22.3
benign
NM_020223.4(FAM20C):c.1236C>T (p.His412=) single nucleotide variant not provided [RCV001515413] Chr7:256012 [GRCh38]
Chr7:295978 [GRCh37]
Chr7:7p22.3
benign|likely benign
NM_020223.4(FAM20C):c.1739C>T (p.Ala580Val) single nucleotide variant not provided [RCV001465377] Chr7:259964 [GRCh38]
Chr7:299930 [GRCh37]
Chr7:7p22.3
likely benign
NM_020223.4(FAM20C):c.1416G>A (p.Thr472=) single nucleotide variant not provided [RCV001510229] Chr7:257057 [GRCh38]
Chr7:297023 [GRCh37]
Chr7:7p22.3
benign
NM_020223.4(FAM20C):c.1254-145A>C single nucleotide variant not provided [RCV001643456] Chr7:256509 [GRCh38]
Chr7:296475 [GRCh37]
Chr7:7p22.3
benign
NM_020223.4(FAM20C):c.606-53A>G single nucleotide variant not provided [RCV001688267] Chr7:195501 [GRCh38]
Chr7:195501 [GRCh37]
Chr7:7p22.3
benign
NM_020223.4(FAM20C):c.1505+173C>A single nucleotide variant not provided [RCV001649812] Chr7:258878 [GRCh38]
Chr7:298844 [GRCh37]
Chr7:7p22.3
benign
NM_020223.4(FAM20C):c.956+265C>T single nucleotide variant not provided [RCV001671726] Chr7:246772 [GRCh38]
Chr7:286738 [GRCh37]
Chr7:7p22.3
benign
NM_020223.4(FAM20C):c.-109C>T single nucleotide variant not provided [RCV001651858] Chr7:193091 [GRCh38]
Chr7:193091 [GRCh37]
Chr7:7p22.3
benign
NM_020223.4(FAM20C):c.*231G>A single nucleotide variant not provided [RCV001654678] Chr7:260211 [GRCh38]
Chr7:300177 [GRCh37]
Chr7:7p22.3
benign
NM_020223.4(FAM20C):c.1505+13C>A single nucleotide variant not provided [RCV001513362] Chr7:258718 [GRCh38]
Chr7:298684 [GRCh37]
Chr7:7p22.3
benign|likely benign
NM_020223.4(FAM20C):c.1254-127A>G single nucleotide variant not provided [RCV001710238] Chr7:256527 [GRCh38]
Chr7:296493 [GRCh37]
Chr7:7p22.3
benign
NM_020223.4(FAM20C):c.1253+156T>C single nucleotide variant not provided [RCV001616403] Chr7:256185 [GRCh38]
Chr7:296151 [GRCh37]
Chr7:7p22.3
benign
NM_020223.4(FAM20C):c.1072+23A>G single nucleotide variant Lethal osteosclerotic bone dysplasia [RCV001703159]|not provided [RCV001694295] Chr7:248453 [GRCh38]
Chr7:288419 [GRCh37]
Chr7:7p22.3
benign
NM_020223.4(FAM20C):c.1464C>T (p.His488=) single nucleotide variant not provided [RCV001514239] Chr7:258664 [GRCh38]
Chr7:298630 [GRCh37]
Chr7:7p22.3
benign
NM_020223.4(FAM20C):c.1505+20C>T single nucleotide variant not provided [RCV001518913] Chr7:258725 [GRCh38]
Chr7:298691 [GRCh37]
Chr7:7p22.3
benign
NM_020223.4(FAM20C):c.1125C>T (p.His375=) single nucleotide variant not provided [RCV001520914] Chr7:255901 [GRCh38]
Chr7:295867 [GRCh37]
Chr7:7p22.3
benign
NM_020223.4(FAM20C):c.784+19A>T single nucleotide variant not provided [RCV001512445] Chr7:195751 [GRCh38]
Chr7:195751 [GRCh37]
Chr7:7p22.3
benign
NM_020223.4(FAM20C):c.1363+10G>A single nucleotide variant Lethal osteosclerotic bone dysplasia [RCV001544310]|not provided [RCV001517056] Chr7:256773 [GRCh38]
Chr7:296739 [GRCh37]
Chr7:7p22.3
benign
NM_020223.4(FAM20C):c.372G>A (p.Arg124=) single nucleotide variant not provided [RCV001432158] Chr7:193571 [GRCh38]
Chr7:193571 [GRCh37]
Chr7:7p22.3
likely benign
NM_020223.4(FAM20C):c.1680C>T (p.Cys560=) single nucleotide variant not provided [RCV001521646] Chr7:259905 [GRCh38]
Chr7:299871 [GRCh37]
Chr7:7p22.3
benign
NM_020223.4(FAM20C):c.1446-214G>C single nucleotide variant not provided [RCV001732528] Chr7:258432 [GRCh38]
Chr7:298398 [GRCh37]
Chr7:7p22.3
likely benign
NM_020223.4(FAM20C):c.1446-234G>C single nucleotide variant not provided [RCV001732633] Chr7:258412 [GRCh38]
Chr7:298378 [GRCh37]
Chr7:7p22.3
likely benign
NM_020223.4(FAM20C):c.957-123A>T single nucleotide variant not provided [RCV001733245] Chr7:248192 [GRCh38]
Chr7:288158 [GRCh37]
Chr7:7p22.3
likely benign
NM_020223.4(FAM20C):c.1446-235G>C single nucleotide variant not provided [RCV001732992] Chr7:258411 [GRCh38]
Chr7:298377 [GRCh37]
Chr7:7p22.3
likely benign
NM_020223.4(FAM20C):c.956+189T>C single nucleotide variant not provided [RCV001733150] Chr7:246696 [GRCh38]
Chr7:286662 [GRCh37]
Chr7:7p22.3
likely benign
NM_020223.4(FAM20C):c.1446-215del deletion not provided [RCV001733170] Chr7:258431 [GRCh38]
Chr7:298397 [GRCh37]
Chr7:7p22.3
likely benign
NM_020223.4(FAM20C):c.1446-98G>A single nucleotide variant not provided [RCV001779594] Chr7:258548 [GRCh38]
Chr7:298514 [GRCh37]
Chr7:7p22.3
likely benign
NM_020223.4(FAM20C):c.605+175C>T single nucleotide variant not provided [RCV001786643] Chr7:193979 [GRCh38]
Chr7:193979 [GRCh37]
Chr7:7p22.3
likely benign
NM_020223.4(FAM20C):c.1446-199_1446-198insCA insertion not provided [RCV001733172] Chr7:258447..258448 [GRCh38]
Chr7:298413..298414 [GRCh37]
Chr7:7p22.3
likely benign
NM_020223.4(FAM20C):c.1072+158G>A single nucleotide variant not provided [RCV001797387] Chr7:248588 [GRCh38]
Chr7:288554 [GRCh37]
Chr7:7p22.3
likely benign
NM_020223.4(FAM20C):c.957-44G>C single nucleotide variant not provided [RCV001797432] Chr7:248271 [GRCh38]
Chr7:288237 [GRCh37]
Chr7:7p22.3
likely benign
NM_020223.4(FAM20C):c.1446-195_1446-193del deletion not provided [RCV001733171] Chr7:258451..258453 [GRCh38]
Chr7:298417..298419 [GRCh37]
Chr7:7p22.3
likely benign
NM_020223.4(FAM20C):c.1073-81C>A single nucleotide variant not provided [RCV001779593] Chr7:255768 [GRCh38]
Chr7:295734 [GRCh37]
Chr7:7p22.3
likely benign
NM_020223.4(FAM20C):c.1247A>C (p.Lys416Thr) single nucleotide variant not provided [RCV001971382] Chr7:256023 [GRCh38]
Chr7:295989 [GRCh37]
Chr7:7p22.3
uncertain significance
NM_020223.4(FAM20C):c.343G>A (p.Glu115Lys) single nucleotide variant not provided [RCV001950612] Chr7:193542 [GRCh38]
Chr7:193542 [GRCh37]
Chr7:7p22.3
uncertain significance
NM_020223.4(FAM20C):c.708C>A (p.Tyr236Ter) single nucleotide variant not provided [RCV001946319] Chr7:195656 [GRCh38]
Chr7:195656 [GRCh37]
Chr7:7p22.3
pathogenic
NM_020223.4(FAM20C):c.869C>T (p.Thr290Met) single nucleotide variant not provided [RCV001912682] Chr7:246420 [GRCh38]
Chr7:286386 [GRCh37]
Chr7:7p22.3
uncertain significance
NM_020223.4(FAM20C):c.803C>T (p.Thr268Met) single nucleotide variant not provided [RCV001983634] Chr7:208916 [GRCh38]
Chr7:208916 [GRCh37]
Chr7:7p22.3
uncertain significance
NM_020223.4(FAM20C):c.970C>T (p.Arg324Cys) single nucleotide variant not provided [RCV001909678] Chr7:248328 [GRCh38]
Chr7:288294 [GRCh37]
Chr7:7p22.3
uncertain significance
NM_020223.4(FAM20C):c.1460C>T (p.Ser487Leu) single nucleotide variant not provided [RCV002021730] Chr7:258660 [GRCh38]
Chr7:298626 [GRCh37]
Chr7:7p22.3
uncertain significance
NM_020223.4(FAM20C):c.863+17dup duplication not provided [RCV001985788] Chr7:208992..208993 [GRCh38]
Chr7:208992..208993 [GRCh37]
Chr7:7p22.3
uncertain significance
NM_020223.4(FAM20C):c.31G>A (p.Val11Met) single nucleotide variant not provided [RCV001870891] Chr7:193230 [GRCh38]
Chr7:193230 [GRCh37]
Chr7:7p22.3
uncertain significance
NM_020223.4(FAM20C):c.1405G>T (p.Gly469Trp) single nucleotide variant not provided [RCV001983372] Chr7:257046 [GRCh38]
Chr7:297012 [GRCh37]
Chr7:7p22.3
uncertain significance
NM_020223.4(FAM20C):c.668A>G (p.Tyr223Cys) single nucleotide variant not provided [RCV002024532] Chr7:195616 [GRCh38]
Chr7:195616 [GRCh37]
Chr7:7p22.3
uncertain significance
NM_020223.4(FAM20C):c.1211G>T (p.Arg404Leu) single nucleotide variant not provided [RCV001969752] Chr7:255987 [GRCh38]
Chr7:295953 [GRCh37]
Chr7:7p22.3
uncertain significance
NM_020223.4(FAM20C):c.971G>A (p.Arg324His) single nucleotide variant not provided [RCV002002959] Chr7:248329 [GRCh38]
Chr7:288295 [GRCh37]
Chr7:7p22.3
uncertain significance
NM_020223.4(FAM20C):c.1654G>A (p.Val552Ile) single nucleotide variant not provided [RCV001927625] Chr7:259879 [GRCh38]
Chr7:299845 [GRCh37]
Chr7:7p22.3
uncertain significance
NM_020223.4(FAM20C):c.347C>T (p.Pro116Leu) single nucleotide variant not provided [RCV001927231] Chr7:193546 [GRCh38]
Chr7:193546 [GRCh37]
Chr7:7p22.3
uncertain significance
NM_020223.4(FAM20C):c.435_461del (p.Arg146_Pro154del) deletion not provided [RCV001908032] Chr7:193625..193651 [GRCh38]
Chr7:193625..193651 [GRCh37]
Chr7:7p22.3
uncertain significance
NM_020223.4(FAM20C):c.553A>G (p.Asn185Asp) single nucleotide variant not provided [RCV001926839] Chr7:193752 [GRCh38]
Chr7:193752 [GRCh37]
Chr7:7p22.3
uncertain significance
NM_020223.4(FAM20C):c.298T>A (p.Ser100Thr) single nucleotide variant not provided [RCV001910432] Chr7:193497 [GRCh38]
Chr7:193497 [GRCh37]
Chr7:7p22.3
uncertain significance
NM_020223.4(FAM20C):c.866A>G (p.Gln289Arg) single nucleotide variant not provided [RCV001926179] Chr7:246417 [GRCh38]
Chr7:286383 [GRCh37]
Chr7:7p22.3
uncertain significance
NM_020223.4(FAM20C):c.1364-4_1364-3delinsTT indel not provided [RCV002001224] Chr7:257001..257002 [GRCh38]
Chr7:296967..296968 [GRCh37]
Chr7:7p22.3
uncertain significance
NM_020223.4(FAM20C):c.1254-12G>A single nucleotide variant not provided [RCV001875211] Chr7:256642 [GRCh38]
Chr7:296608 [GRCh37]
Chr7:7p22.3
uncertain significance
NM_020223.4(FAM20C):c.658G>A (p.Val220Met) single nucleotide variant not provided [RCV002050010] Chr7:195606 [GRCh38]
Chr7:195606 [GRCh37]
Chr7:7p22.3
uncertain significance
NM_020223.4(FAM20C):c.1298C>T (p.Pro433Leu) single nucleotide variant not provided [RCV002049231] Chr7:256698 [GRCh38]
Chr7:296664 [GRCh37]
Chr7:7p22.3
uncertain significance
NM_020223.4(FAM20C):c.704G>A (p.Arg235Gln) single nucleotide variant not provided [RCV001877698] Chr7:195652 [GRCh38]
Chr7:195652 [GRCh37]
Chr7:7p22.3
uncertain significance
NM_020223.4(FAM20C):c.1010C>G (p.Thr337Ser) single nucleotide variant not provided [RCV001954930] Chr7:248368 [GRCh38]
Chr7:288334 [GRCh37]
Chr7:7p22.3
uncertain significance
NM_020223.4(FAM20C):c.379G>A (p.Gly127Ser) single nucleotide variant not provided [RCV002051119] Chr7:193578 [GRCh38]
Chr7:193578 [GRCh37]
Chr7:7p22.3
uncertain significance
NM_020223.4(FAM20C):c.1376G>A (p.Arg459His) single nucleotide variant not provided [RCV002026743] Chr7:257017 [GRCh38]
Chr7:296983 [GRCh37]
Chr7:7p22.3
uncertain significance
NM_020223.4(FAM20C):c.1651C>T (p.Arg551Cys) single nucleotide variant not provided [RCV001899182] Chr7:259876 [GRCh38]
Chr7:299842 [GRCh37]
Chr7:7p22.3
uncertain significance
NM_020223.4(FAM20C):c.796G>T (p.Gly266Trp) single nucleotide variant not provided [RCV001939133] Chr7:208909 [GRCh38]
Chr7:208909 [GRCh37]
Chr7:7p22.3
uncertain significance
NM_020223.4(FAM20C):c.1646G>A (p.Arg549Gln) single nucleotide variant not provided [RCV002047127] Chr7:259871 [GRCh38]
Chr7:299837 [GRCh37]
Chr7:7p22.3
uncertain significance
NM_020223.4(FAM20C):c.1682T>A (p.Val561Glu) single nucleotide variant not provided [RCV001939274] Chr7:259907 [GRCh38]
Chr7:299873 [GRCh37]
Chr7:7p22.3
uncertain significance
NM_020223.4(FAM20C):c.520G>T (p.Val174Phe) single nucleotide variant not provided [RCV001958190] Chr7:193719 [GRCh38]
Chr7:193719 [GRCh37]
Chr7:7p22.3
uncertain significance
NM_020223.4(FAM20C):c.217G>T (p.Ala73Ser) single nucleotide variant not provided [RCV001959478] Chr7:193416 [GRCh38]
Chr7:193416 [GRCh37]
Chr7:7p22.3
uncertain significance
NM_020223.4(FAM20C):c.76G>C (p.Ala26Pro) single nucleotide variant not provided [RCV001930609] Chr7:193275 [GRCh38]
Chr7:193275 [GRCh37]
Chr7:7p22.3
uncertain significance
NM_020223.4(FAM20C):c.1745C>T (p.Ser582Leu) single nucleotide variant not provided [RCV001905056] Chr7:259970 [GRCh38]
Chr7:299936 [GRCh37]
Chr7:7p22.3
uncertain significance
NM_020223.4(FAM20C):c.984C>T (p.Pro328=) single nucleotide variant not provided [RCV001958934] Chr7:248342 [GRCh38]
Chr7:288308 [GRCh37]
Chr7:7p22.3
likely benign
NM_020223.4(FAM20C):c.1180G>A (p.Asp394Asn) single nucleotide variant not provided [RCV001996663] Chr7:255956 [GRCh38]
Chr7:295922 [GRCh37]
Chr7:7p22.3
uncertain significance
NM_020223.4(FAM20C):c.969C>G (p.Phe323Leu) single nucleotide variant not provided [RCV001960326] Chr7:248327 [GRCh38]
Chr7:288293 [GRCh37]
Chr7:7p22.3
uncertain significance
NM_020223.4(FAM20C):c.527C>G (p.Pro176Arg) single nucleotide variant not provided [RCV001980757] Chr7:193726 [GRCh38]
Chr7:193726 [GRCh37]
Chr7:7p22.3
uncertain significance
NC_000007.13:g.(?_193200)_(299946_?)dup duplication not provided [RCV001981295] Chr7:193200..299946 [GRCh37]
Chr7:7p22.3
uncertain significance
NM_020223.4(FAM20C):c.573G>C (p.Arg191Ser) single nucleotide variant not provided [RCV002026029] Chr7:193772 [GRCh38]
Chr7:193772 [GRCh37]
Chr7:7p22.3
uncertain significance
NM_020223.4(FAM20C):c.611A>G (p.His204Arg) single nucleotide variant not provided [RCV001921340] Chr7:195559 [GRCh38]
Chr7:195559 [GRCh37]
Chr7:7p22.3
uncertain significance
NM_020223.4(FAM20C):c.208C>T (p.Pro70Ser) single nucleotide variant not provided [RCV001903838] Chr7:193407 [GRCh38]
Chr7:193407 [GRCh37]
Chr7:7p22.3
uncertain significance
NM_020223.4(FAM20C):c.55G>T (p.Val19Leu) single nucleotide variant not provided [RCV002027219] Chr7:193254 [GRCh38]
Chr7:193254 [GRCh37]
Chr7:7p22.3
uncertain significance
NM_020223.4(FAM20C):c.674A>G (p.Asn225Ser) single nucleotide variant not provided [RCV002016842] Chr7:195622 [GRCh38]
Chr7:195622 [GRCh37]
Chr7:7p22.3
uncertain significance
NM_020223.4(FAM20C):c.1253+20G>A single nucleotide variant not provided [RCV002208366] Chr7:256049 [GRCh38]
Chr7:296015 [GRCh37]
Chr7:7p22.3
benign
NM_020223.4(FAM20C):c.600G>C (p.Pro200=) single nucleotide variant Lethal osteosclerotic bone dysplasia [RCV002243525]|not provided [RCV002146640] Chr7:193799 [GRCh38]
Chr7:193799 [GRCh37]
Chr7:7p22.3
likely benign|uncertain significance
NM_020223.4(FAM20C):c.1253+13C>T single nucleotide variant not provided [RCV002125733] Chr7:256042 [GRCh38]
Chr7:296008 [GRCh37]
Chr7:7p22.3
likely benign
NM_020223.4(FAM20C):c.753C>T (p.His251=) single nucleotide variant not provided [RCV002206235] Chr7:195701 [GRCh38]
Chr7:195701 [GRCh37]
Chr7:7p22.3
likely benign
NM_020223.4(FAM20C):c.1251C>T (p.Ala417=) single nucleotide variant not provided [RCV002089535] Chr7:256027 [GRCh38]
Chr7:295993 [GRCh37]
Chr7:7p22.3
likely benign
NM_020223.4(FAM20C):c.1363+9C>T single nucleotide variant not provided [RCV002186938] Chr7:256772 [GRCh38]
Chr7:296738 [GRCh37]
Chr7:7p22.3
likely benign
NM_020223.4(FAM20C):c.1072+53_1072+88del microsatellite not provided [RCV002109248] Chr7:248418..248453 [GRCh38]
Chr7:288384..288419 [GRCh37]
Chr7:7p22.3
likely benign
NM_020223.4(FAM20C):c.1716C>T (p.Asp572=) single nucleotide variant not provided [RCV002165730] Chr7:259941 [GRCh38]
Chr7:299907 [GRCh37]
Chr7:7p22.3
likely benign
NM_020223.4(FAM20C):c.1461G>A (p.Ser487=) single nucleotide variant not provided [RCV002148270] Chr7:258661 [GRCh38]
Chr7:298627 [GRCh37]
Chr7:7p22.3
benign
NM_020223.4(FAM20C):c.561C>T (p.Asn187=) single nucleotide variant not provided [RCV002210215] Chr7:193760 [GRCh38]
Chr7:193760 [GRCh37]
Chr7:7p22.3
likely benign
NM_020223.4(FAM20C):c.1653C>T (p.Arg551=) single nucleotide variant not provided [RCV002088031] Chr7:259878 [GRCh38]
Chr7:299844 [GRCh37]
Chr7:7p22.3
likely benign
NM_020223.4(FAM20C):c.681C>G (p.Leu227=) single nucleotide variant not provided [RCV002148190] Chr7:195629 [GRCh38]
Chr7:195629 [GRCh37]
Chr7:7p22.3
likely benign
NM_020223.4(FAM20C):c.1254-15G>T single nucleotide variant not provided [RCV002212641] Chr7:256639 [GRCh38]
Chr7:296605 [GRCh37]
Chr7:7p22.3
likely benign
NM_020223.4(FAM20C):c.784+11T>C single nucleotide variant not provided [RCV002071766] Chr7:195743 [GRCh38]
Chr7:195743 [GRCh37]
Chr7:7p22.3
likely benign
NM_020223.4(FAM20C):c.863+20G>A single nucleotide variant not provided [RCV002173203] Chr7:208996 [GRCh38]
Chr7:208996 [GRCh37]
Chr7:7p22.3
likely benign
NM_020223.4(FAM20C):c.1253+12G>C single nucleotide variant not provided [RCV002195559] Chr7:256041 [GRCh38]
Chr7:296007 [GRCh37]
Chr7:7p22.3
likely benign
NM_020223.4(FAM20C):c.328C>T (p.Leu110=) single nucleotide variant not provided [RCV002135069] Chr7:193527 [GRCh38]
Chr7:193527 [GRCh37]
Chr7:7p22.3
likely benign
NM_020223.4(FAM20C):c.732G>A (p.Pro244=) single nucleotide variant not provided [RCV002133344] Chr7:195680 [GRCh38]
Chr7:195680 [GRCh37]
Chr7:7p22.3
likely benign
NM_020223.4(FAM20C):c.957-12G>A single nucleotide variant not provided [RCV002196025] Chr7:248303 [GRCh38]
Chr7:288269 [GRCh37]
Chr7:7p22.3
likely benign
NM_020223.4(FAM20C):c.1717G>A (p.Asp573Asn) single nucleotide variant not provided [RCV002132429] Chr7:259942 [GRCh38]
Chr7:299908 [GRCh37]
Chr7:7p22.3
benign
NM_020223.4(FAM20C):c.785-19C>A single nucleotide variant not provided [RCV002146284] Chr7:208879 [GRCh38]
Chr7:208879 [GRCh37]
Chr7:7p22.3
likely benign
NM_020223.4(FAM20C):c.1073-19G>A single nucleotide variant not provided [RCV002126575] Chr7:255830 [GRCh38]
Chr7:295796 [GRCh37]
Chr7:7p22.3
likely benign
NM_020223.4(FAM20C):c.426C>T (p.Asp142=) single nucleotide variant not provided [RCV002133369] Chr7:193625 [GRCh38]
Chr7:193625 [GRCh37]
Chr7:7p22.3
likely benign
NM_020223.4(FAM20C):c.804G>A (p.Thr268=) single nucleotide variant not provided [RCV002134536] Chr7:208917 [GRCh38]
Chr7:208917 [GRCh37]
Chr7:7p22.3
likely benign
NM_020223.4(FAM20C):c.1748C>T (p.Ala583Val) single nucleotide variant not provided [RCV002136920] Chr7:259973 [GRCh38]
Chr7:299939 [GRCh37]
Chr7:7p22.3
benign
NM_020223.4(FAM20C):c.171G>C (p.Ala57=) single nucleotide variant not provided [RCV002157215] Chr7:193370 [GRCh38]
Chr7:193370 [GRCh37]
Chr7:7p22.3
likely benign
NM_020223.4(FAM20C):c.1254-5C>T single nucleotide variant not provided [RCV002139069] Chr7:256649 [GRCh38]
Chr7:296615 [GRCh37]
Chr7:7p22.3
likely benign
NM_020223.4(FAM20C):c.42G>C (p.Leu14=) single nucleotide variant not provided [RCV002154043] Chr7:193241 [GRCh38]
Chr7:193241 [GRCh37]
Chr7:7p22.3
likely benign
NM_020223.4(FAM20C):c.54G>C (p.Leu18=) single nucleotide variant not provided [RCV002137367] Chr7:193253 [GRCh38]
Chr7:193253 [GRCh37]
Chr7:7p22.3
likely benign
NM_020223.4(FAM20C):c.1073-4C>A single nucleotide variant not provided [RCV002218861] Chr7:255845 [GRCh38]
Chr7:295811 [GRCh37]
Chr7:7p22.3
likely benign
NM_020223.4(FAM20C):c.645C>T (p.Pro215=) single nucleotide variant not provided [RCV002200176] Chr7:195593 [GRCh38]
Chr7:195593 [GRCh37]
Chr7:7p22.3
likely benign
NM_020223.4(FAM20C):c.1094G>A (p.Gly365Asp) single nucleotide variant Lethal osteosclerotic bone dysplasia [RCV002221985] Chr7:255870 [GRCh38]
Chr7:295836 [GRCh37]
Chr7:7p22.3
pathogenic
FAM20C, EX3DEL deletion Lethal osteosclerotic bone dysplasia [RCV002221986]   pathogenic
NM_020223.4(FAM20C):c.1704C>T (p.Ser568=) single nucleotide variant not provided [RCV002160974] Chr7:259929 [GRCh38]
Chr7:299895 [GRCh37]
Chr7:7p22.3
likely benign
NM_020223.4(FAM20C):c.1445+15G>A single nucleotide variant not provided [RCV002155390] Chr7:257101 [GRCh38]
Chr7:297067 [GRCh37]
Chr7:7p22.3
benign
NM_020223.4(FAM20C):c.956+119G>A single nucleotide variant not provided [RCV002222852] Chr7:246626 [GRCh38]
Chr7:286592 [GRCh37]
Chr7:7p22.3
likely benign
NM_020223.4(FAM20C):c.1602G>A (p.Val534=) single nucleotide variant not provided [RCV002197739] Chr7:259827 [GRCh38]
Chr7:299793 [GRCh37]
Chr7:7p22.3
likely benign
NM_020223.4(FAM20C):c.1072+12C>T single nucleotide variant not provided [RCV002202413] Chr7:248442 [GRCh38]
Chr7:288408 [GRCh37]
Chr7:7p22.3
benign
NM_020223.4(FAM20C):c.863+9C>T single nucleotide variant not provided [RCV002101984] Chr7:208985 [GRCh38]
Chr7:208985 [GRCh37]
Chr7:7p22.3
likely benign
NM_020223.4(FAM20C):c.1072+13G>A single nucleotide variant not provided [RCV002163164] Chr7:248443 [GRCh38]
Chr7:288409 [GRCh37]
Chr7:7p22.3
likely benign
NM_020223.4(FAM20C):c.1253+9G>A single nucleotide variant not provided [RCV002163187] Chr7:256038 [GRCh38]
Chr7:296004 [GRCh37]
Chr7:7p22.3
likely benign
NM_020223.4(FAM20C):c.1410T>C (p.Asn470=) single nucleotide variant not provided [RCV002098605] Chr7:257051 [GRCh38]
Chr7:297017 [GRCh37]
Chr7:7p22.3
likely benign
NM_020223.4(FAM20C):c.785-10C>T single nucleotide variant not provided [RCV002118381] Chr7:208888 [GRCh38]
Chr7:208888 [GRCh37]
Chr7:7p22.3
likely benign
NM_020223.4(FAM20C):c.957-17C>T single nucleotide variant not provided [RCV002118393] Chr7:248298 [GRCh38]
Chr7:288264 [GRCh37]
Chr7:7p22.3
likely benign
NM_020223.4(FAM20C):c.1072+12C>G single nucleotide variant not provided [RCV002135555] Chr7:248442 [GRCh38]
Chr7:288408 [GRCh37]
Chr7:7p22.3
likely benign
NM_020223.4(FAM20C):c.1363+19C>T single nucleotide variant not provided [RCV002141121] Chr7:256782 [GRCh38]
Chr7:296748 [GRCh37]
Chr7:7p22.3
likely benign
NM_020223.4(FAM20C):c.924C>T (p.His308=) single nucleotide variant not provided [RCV002104206] Chr7:246475 [GRCh38]
Chr7:286441 [GRCh37]
Chr7:7p22.3
likely benign
NM_020223.4(FAM20C):c.957-12G>C single nucleotide variant not provided [RCV002176106] Chr7:248303 [GRCh38]
Chr7:288269 [GRCh37]
Chr7:7p22.3
likely benign
NM_020223.4(FAM20C):c.939T>C (p.Ala313=) single nucleotide variant not provided [RCV002204030] Chr7:246490 [GRCh38]
Chr7:286456 [GRCh37]
Chr7:7p22.3
likely benign
NM_020223.4(FAM20C):c.1505+174G>A single nucleotide variant not provided [RCV002285856] Chr7:258879 [GRCh38]
Chr7:298845 [GRCh37]
Chr7:7p22.3
likely benign
NM_020223.4(FAM20C):c.1505+186C>T single nucleotide variant not provided [RCV002286227] Chr7:258891 [GRCh38]
Chr7:298857 [GRCh37]
Chr7:7p22.3
likely benign
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
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
NM_020223.4(FAM20C):c.1506-226TCTG[2] microsatellite not provided [RCV002285766] Chr7:259505..259508 [GRCh38]
Chr7:299471..299474 [GRCh37]
Chr7:7p22.3
likely benign
NM_020223.4(FAM20C):c.1072+101T>C single nucleotide variant not provided [RCV002285828] Chr7:248531 [GRCh38]
Chr7:288497 [GRCh37]
Chr7:7p22.3
likely benign

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:22140 AgrOrtholog
COSMIC FAM20C COSMIC
Ensembl Genes ENSG00000177706 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
  ENSG00000281429 UniProtKB/TrEMBL
  ENSG00000282147 UniProtKB/TrEMBL
  ENSG00000288499 UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000322323 ENTREZGENE
  ENSP00000322323.5 UniProtKB/Swiss-Prot
  ENSP00000485770.1 UniProtKB/TrEMBL
  ENSP00000488297.1 UniProtKB/TrEMBL
  ENSP00000499851.1 UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000313766 ENTREZGENE
  ENST00000313766.6 UniProtKB/Swiss-Prot
  ENST00000630666.1 UniProtKB/TrEMBL
  ENST00000633408.1 UniProtKB/TrEMBL
  ENST00000672066.1 UniProtKB/Swiss-Prot
GTEx ENSG00000177706 GTEx
  ENSG00000281429 GTEx
  ENSG00000282147 GTEx
  ENSG00000288499 GTEx
HGNC ID HGNC:22140 ENTREZGENE
Human Proteome Map FAM20C Human Proteome Map
InterPro FAM20 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FAM20_C UniProtKB/Swiss-Prot
KEGG Report hsa:56975 UniProtKB/Swiss-Prot
NCBI Gene 56975 ENTREZGENE
OMIM 259775 OMIM
  611061 OMIM
PANTHER PTHR12450 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Fam20C UniProtKB/Swiss-Prot
PharmGKB PA134898453 PharmGKB
UniProt A0A0G2JQD6_HUMAN UniProtKB/TrEMBL
  FA20C_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q9NPT2 ENTREZGENE
UniProt Secondary A4D2Q5 UniProtKB/Swiss-Prot
  L8B5W8 UniProtKB/Swiss-Prot
  Q5I0W9 UniProtKB/Swiss-Prot
  Q7Z4I0 UniProtKB/Swiss-Prot
  Q9NPT2 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2019-01-29 FAM20C  FAM20C golgi associated secretory pathway kinase    FAM20C, golgi associated secretory pathway kinase  Symbol and/or name change 5135510 APPROVED
2016-08-16 FAM20C  FAM20C, golgi associated secretory pathway kinase    family with sequence similarity 20 member C  Symbol and/or name change 5135510 APPROVED
2015-11-24 FAM20C  family with sequence similarity 20 member C    family with sequence similarity 20, member C  Symbol and/or name change 5135510 APPROVED
2011-12-06 FAM20C  family with sequence similarity 20, member C  FAM20C  family with sequence similarity 20, member C  Symbol and/or name change 5135510 APPROVED