FERMT1 (FERM domain containing kindlin 1) - Rat Genome Database

Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Advanced Search (OLGA)
Gene: FERMT1 (FERM domain containing kindlin 1) Homo sapiens
Analyze
Symbol: FERMT1
Name: FERM domain containing kindlin 1
RGD ID: 1315645
HGNC Page HGNC:15889
Description: Predicted to enable integrin binding activity. Involved in several processes, including keratinocyte migration; keratinocyte proliferation; and positive regulation of wound healing, spreading of epidermal cells. Located in cell periphery; cytosol; and focal adhesion. Implicated in Kindler syndrome; telangiectasis; and vesiculobullous skin disease.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: C20orf42; chromosome 20 open reading frame 42; DTGCU2; fermitin family homolog 1; fermitin family member 1; FLJ20116; FLJ23423; KIND1; kindlerin; kindlin 1; kindlin syndrome protein; unc-112-related protein 1; UNC112 related protein 1; UNC112A; URP1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38206,074,845 - 6,123,030 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl206,074,845 - 6,123,214 (-)EnsemblGRCh38hg38GRCh38
GRCh37206,055,492 - 6,103,677 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36206,003,492 - 6,052,191 (-)NCBINCBI36Build 36hg18NCBI36
Build 34206,003,492 - 6,052,191NCBI
Celera206,126,766 - 6,175,354 (-)NCBICelera
Cytogenetic Map20p12.3NCBI
HuRef206,012,168 - 6,061,355 (-)NCBIHuRef
CHM1_1206,055,497 - 6,104,189 (-)NCBICHM1_1
T2T-CHM13v2.0206,116,428 - 6,164,613 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(1->4)-beta-D-glucan  (ISO)
1,2-dimethylhydrazine  (ISO)
1,3-dinitrobenzene  (ISO)
1-naphthyl isothiocyanate  (ISO)
17beta-estradiol  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4-dibromophenyl 2,4,5-tribromophenyl ether  (EXP)
2-hydroxypropanoic acid  (EXP)
3-isobutyl-1-methyl-7H-xanthine  (EXP)
4,4'-sulfonyldiphenol  (ISO)
5-aza-2'-deoxycytidine  (EXP)
6-propyl-2-thiouracil  (ISO)
acrolein  (EXP)
acrylamide  (ISO)
aflatoxin B1  (EXP)
Aflatoxin B2 alpha  (EXP)
all-trans-retinoic acid  (EXP)
alpha-pinene  (EXP)
alpha-Zearalanol  (ISO)
aristolochic acid A  (EXP)
arsenous acid  (EXP)
atrazine  (ISO)
benzo[a]pyrene  (EXP)
benzo[e]pyrene  (EXP)
bis(2-ethylhexyl) phthalate  (EXP)
bisphenol A  (EXP,ISO)
bisphenol F  (EXP,ISO)
butanal  (EXP)
cadmium dichloride  (EXP)
caffeine  (EXP)
chloropicrin  (EXP)
cisplatin  (EXP)
cobalt dichloride  (EXP)
copper(II) chloride  (EXP)
copper(II) sulfate  (EXP)
DDE  (EXP)
dexamethasone  (EXP)
diarsenic trioxide  (EXP)
diclofenac  (ISO)
dicrotophos  (EXP)
dioxygen  (EXP)
dorsomorphin  (EXP)
doxorubicin  (EXP)
elemental selenium  (EXP)
entinostat  (EXP)
fonofos  (EXP)
furan  (ISO)
glycidol  (ISO)
indometacin  (EXP)
lead diacetate  (ISO)
lipopolysaccharide  (EXP)
menadione  (EXP)
methapyrilene  (EXP)
methylmercury chloride  (EXP)
microcystin-LR  (ISO)
ozone  (EXP)
panobinostat  (EXP)
paracetamol  (ISO)
parathion  (EXP)
pentanal  (EXP)
perfluorooctane-1-sulfonic acid  (ISO)
perfluorooctanoic acid  (ISO)
phenylmercury acetate  (EXP)
potassium chromate  (EXP)
potassium dichromate  (ISO)
progesterone  (EXP)
Ptaquiloside  (ISO)
quercetin  (EXP)
rac-lactic acid  (EXP)
S-(1,2-dichlorovinyl)-L-cysteine  (EXP)
SB 431542  (EXP)
selenium atom  (EXP)
silicon dioxide  (EXP)
sodium arsenite  (EXP)
sulfadimethoxine  (ISO)
sunitinib  (EXP)
temozolomide  (EXP)
terbufos  (EXP)
testosterone  (ISO)
tributylstannane  (ISO)
trichostatin A  (EXP)
urethane  (EXP)
valproic acid  (EXP)
vinclozolin  (ISO)
vitamin E  (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

Human Phenotype
Abnormal blistering of the skin  (IAGP)
Abnormal dental enamel morphology  (IAGP)
Abnormal rib morphology  (IAGP)
Abnormal skull morphology  (IAGP)
Abnormal toenail morphology  (IAGP)
Abnormality of skin pigmentation  (IAGP)
Abnormality of the anus  (IAGP)
Abnormality of the skin  (IAGP)
Acral blistering  (IAGP)
Amniotic constriction ring  (IAGP)
Anal stenosis  (IAGP)
Anemia  (IAGP)
Aplasia/Hypoplasia of the skin  (IAGP)
Atypical scarring of skin  (IAGP)
Autosomal recessive inheritance  (IAGP)
Camptodactyly of finger  (IAGP)
Carious teeth  (IAGP)
Cheilitis  (IAGP)
Colitis  (IAGP)
Conjunctivitis  (IAGP)
Corneal erosion  (IAGP)
Corneal opacity  (IAGP)
Cutaneous photosensitivity  (IAGP)
Dermal atrophy  (IAGP)
Diffuse skin atrophy  (IAGP)
Dysphagia  (IAGP)
Ectropion  (IAGP)
Erythema  (IAGP)
Esophageal stenosis  (IAGP)
Esophageal stricture  (IAGP)
Esophagitis  (IAGP)
Finger syndactyly  (IAGP)
Flexion contracture  (IAGP)
Fragile skin  (IAGP)
Gingivitis  (IAGP)
Hyperkeratosis  (IAGP)
Inflammation of the large intestine  (IAGP)
Laryngeal stenosis  (IAGP)
Milia  (IAGP)
Neoplasm of the urethra  (IAGP)
Oral leukoplakia  (IAGP)
Palmoplantar hyperkeratosis  (IAGP)
Palmoplantar keratoderma  (IAGP)
Periodontitis  (IAGP)
Phimosis  (IAGP)
Poikiloderma  (IAGP)
Premature loss of primary teeth  (IAGP)
Recurrent skin infections  (IAGP)
Reduced epidermal kindlin-1 expression  (IAGP)
Ridged nail  (IAGP)
Short 4th metacarpal  (IAGP)
Short 5th metacarpal  (IAGP)
Spotty hyperpigmentation  (IAGP)
Spotty hypopigmentation  (IAGP)
Squamous cell carcinoma  (IAGP)
Symblepharon  (IAGP)
Telangiectasia of the skin  (IAGP)
Turricephaly  (IAGP)
Urethral stenosis  (IAGP)
Urethral stricture  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Talins and kindlins: partners in integrin-mediated adhesion. Calderwood DA, etal., Nat Rev Mol Cell Biol. 2013 Aug;14(8):503-17. doi: 10.1038/nrm3624. Epub 2013 Jul 17.
2. Identification of mutations in a new gene encoding a FERM family protein with a pleckstrin homology domain in Kindler syndrome. Jobard F, etal., Hum Mol Genet. 2003 Apr 15;12(8):925-35.
3. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
5. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:8125298   PMID:12477932   PMID:12697302   PMID:12789646   PMID:14634021   PMID:14702039   PMID:14962093   PMID:15927810   PMID:16051467   PMID:16675959   PMID:17012746   PMID:17178989  
PMID:17460733   PMID:17916195   PMID:17989907   PMID:18528435   PMID:18652585   PMID:18835760   PMID:19200189   PMID:19240021   PMID:19292718   PMID:19762710   PMID:19762715   PMID:19804783  
PMID:19854292   PMID:19945623   PMID:20028441   PMID:20306291   PMID:20467437   PMID:21146372   PMID:21220475   PMID:21309038   PMID:21336475   PMID:21356350   PMID:21832234   PMID:21873635  
PMID:21936020   PMID:22220914   PMID:23209705   PMID:23267142   PMID:23278235   PMID:23440354   PMID:23549420   PMID:23776470   PMID:23804033   PMID:24165133   PMID:24556642   PMID:24635080  
PMID:25086068   PMID:25156791   PMID:25468996   PMID:25591451   PMID:25592379   PMID:25599393   PMID:25865288   PMID:26083552   PMID:26344197   PMID:26496610   PMID:26673895   PMID:26937547  
PMID:26949251   PMID:26993041   PMID:27293055   PMID:27427485   PMID:27641329   PMID:27725201   PMID:27776350   PMID:27798104   PMID:27862150   PMID:28290610   PMID:28514442   PMID:28667517  
PMID:28954813   PMID:29168364   PMID:29467282   PMID:29568061   PMID:30248333   PMID:30639242   PMID:31165706   PMID:31932471   PMID:31957900   PMID:32723205   PMID:33683437   PMID:33961781  
PMID:34035280   PMID:34814915   PMID:35189150   PMID:35452191   PMID:35831314   PMID:35844135   PMID:36981005   PMID:38200443   PMID:38976072  


Genomics

Comparative Map Data
FERMT1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38206,074,845 - 6,123,030 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl206,074,845 - 6,123,214 (-)EnsemblGRCh38hg38GRCh38
GRCh37206,055,492 - 6,103,677 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36206,003,492 - 6,052,191 (-)NCBINCBI36Build 36hg18NCBI36
Build 34206,003,492 - 6,052,191NCBI
Celera206,126,766 - 6,175,354 (-)NCBICelera
Cytogenetic Map20p12.3NCBI
HuRef206,012,168 - 6,061,355 (-)NCBIHuRef
CHM1_1206,055,497 - 6,104,189 (-)NCBICHM1_1
T2T-CHM13v2.0206,116,428 - 6,164,613 (-)NCBIT2T-CHM13v2.0
Fermt1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm392132,746,097 - 132,787,956 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl2132,746,309 - 132,787,826 (-)EnsemblGRCm39 Ensembl
GRCm382132,904,177 - 132,946,036 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl2132,904,389 - 132,945,906 (-)EnsemblGRCm38mm10GRCm38
MGSCv372132,729,915 - 132,771,772 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv362132,595,620 - 132,637,477 (-)NCBIMGSCv36mm8
Celera2134,125,730 - 134,167,433 (-)NCBICelera
Cytogenetic Map2F2NCBI
cM Map264.8NCBI
Fermt1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr83140,624,434 - 140,666,419 (-)NCBIGRCr8
mRatBN7.23120,171,301 - 120,213,555 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl3120,171,561 - 120,213,555 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx3124,066,663 - 124,106,362 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.03132,670,283 - 132,712,190 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.03130,322,805 - 130,362,509 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.03125,566,744 - 125,607,864 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl3125,566,643 - 125,607,735 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.03132,049,511 - 132,090,550 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.43120,699,769 - 120,744,016 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.13120,607,515 - 120,645,912 (-)NCBI
Celera3118,957,538 - 118,999,128 (-)NCBICelera
Cytogenetic Map3q36NCBI
Fermt1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541516,446,934 - 16,483,369 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495541516,447,921 - 16,483,221 (-)NCBIChiLan1.0ChiLan1.0
FERMT1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2216,995,642 - 7,045,908 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1206,997,144 - 7,043,349 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0206,063,480 - 6,120,206 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1205,856,287 - 5,902,251 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl205,856,287 - 5,902,251 (-)Ensemblpanpan1.1panPan2
FERMT1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12415,748,632 - 15,785,025 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2415,748,629 - 15,782,880 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2415,570,788 - 15,607,260 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02416,151,297 - 16,187,696 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2416,153,502 - 16,185,964 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12415,757,632 - 15,794,124 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02415,866,168 - 15,902,611 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02416,197,744 - 16,234,285 (+)NCBIUU_Cfam_GSD_1.0
Fermt1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024408640164,550,560 - 164,587,721 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493648512,985,552 - 13,016,906 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493648512,985,552 - 13,016,997 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
FERMT1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1715,080,587 - 15,137,753 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11715,080,585 - 15,137,947 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21716,443,838 - 16,504,032 (-)NCBISscrofa10.2Sscrofa10.2susScr3
FERMT1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1232,006,824 - 32,060,838 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl232,009,615 - 32,062,211 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366607112,480,750 - 12,534,757 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Fermt1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247416,880,877 - 6,915,051 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247416,881,477 - 6,914,910 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in FERMT1
471 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_017671.5(FERMT1):c.1034C>T (p.Ala345Val) single nucleotide variant Inborn genetic diseases [RCV003352902]|not provided [RCV000523873] Chr20:6096957 [GRCh38]
Chr20:6077604 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_017671.5(FERMT1):c.385+2T>C single nucleotide variant Kindler syndrome [RCV000002832] Chr20:6115809 [GRCh38]
Chr20:6096456 [GRCh37]
Chr20:20p12.3		 pathogenic
NM_017671.5(FERMT1):c.1714_1715insA (p.Val572fs) insertion Kindler syndrome [RCV000002834] Chr20:6084043..6084044 [GRCh38]
Chr20:6064690..6064691 [GRCh37]
Chr20:20p12.3		 pathogenic
NM_017671.5(FERMT1):c.464del (p.Asn155fs) deletion Kindler syndrome [RCV000002835] Chr20:6112545 [GRCh38]
Chr20:6093192 [GRCh37]
Chr20:20p12.3		 pathogenic
NM_017671.5(FERMT1):c.1812G>A (p.Trp604Ter) single nucleotide variant not provided [RCV000520623] Chr20:6079484 [GRCh38]
Chr20:6060131 [GRCh37]
Chr20:20p12.3		 likely pathogenic
NM_017671.5(FERMT1):c.441G>T (p.Lys147Asn) single nucleotide variant not provided [RCV000522055] Chr20:6112568 [GRCh38]
Chr20:6093215 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_017671.5(FERMT1):c.787C>T (p.Gln263Ter) single nucleotide variant Kindler syndrome [RCV000002833]|not provided [RCV000730517] Chr20:6107594 [GRCh38]
Chr20:6088241 [GRCh37]
Chr20:20p12.3		 pathogenic
NM_017671.5(FERMT1):c.811C>T (p.Arg271Ter) single nucleotide variant FERMT1-related disorder [RCV003894788]|Kindler syndrome [RCV000002836]|not provided [RCV001381403] Chr20:6107570 [GRCh38]
Chr20:6088217 [GRCh37]
Chr20:20p12.3		 pathogenic|likely pathogenic
NM_017671.5(FERMT1):c.862C>T (p.Arg288Ter) single nucleotide variant Kindler syndrome [RCV000002837]|not provided [RCV002512685] Chr20:6097619 [GRCh38]
Chr20:6078266 [GRCh37]
Chr20:20p12.3		 pathogenic
GRCh38/hg38 20p13-11.21(chr20:89939-25697564)x3 copy number gain See cases [RCV000051227] Chr20:89939..25697564 [GRCh38]
Chr20:70580..25678200 [GRCh37]
Chr20:18580..25626200 [NCBI36]
Chr20:20p13-11.21		 pathogenic
GRCh38/hg38 20p13-11.23(chr20:89939-19146279)x3 copy number gain See cases [RCV000051041] Chr20:89939..19146279 [GRCh38]
Chr20:70580..19126923 [GRCh37]
Chr20:18580..19074923 [NCBI36]
Chr20:20p13-11.23		 pathogenic
GRCh38/hg38 20p13-11.23(chr20:89939-19071495)x3 copy number gain See cases [RCV000052995] Chr20:89939..19071495 [GRCh38]
Chr20:70580..19052139 [GRCh37]
Chr20:18580..19000139 [NCBI36]
Chr20:20p13-11.23		 pathogenic
GRCh38/hg38 20p13-11.22(chr20:89939-21787252)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052996]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052996]|See cases [RCV000052996] Chr20:89939..21787252 [GRCh38]
Chr20:70580..21767890 [GRCh37]
Chr20:18580..21715890 [NCBI36]
Chr20:20p13-11.22		 pathogenic
GRCh38/hg38 20p13-12.1(chr20:89939-14818511)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052997]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052997]|See cases [RCV000052997] Chr20:89939..14818511 [GRCh38]
Chr20:70580..14799157 [GRCh37]
Chr20:18580..14747157 [NCBI36]
Chr20:20p13-12.1		 pathogenic
NM_017671.5(FERMT1):c.1647C>T (p.Val549=) single nucleotide variant not provided [RCV002174519] Chr20:6084111 [GRCh38]
Chr20:6064758 [GRCh37]
Chr20:6012758 [NCBI36]
Chr20:20p12.3		 likely benign|not provided
NM_017671.5(FERMT1):c.835G>A (p.Asp279Asn) single nucleotide variant not provided [RCV001878468] Chr20:6107546 [GRCh38]
Chr20:6088193 [GRCh37]
Chr20:6036193 [NCBI36]
Chr20:20p12.3		 uncertain significance|not provided
NM_017671.5(FERMT1):c.27del (p.Phe9fs) deletion Kindler syndrome [RCV001291293] Chr20:6119528 [GRCh38]
Chr20:6100175 [GRCh37]
Chr20:20p12.3		 likely pathogenic
GRCh38/hg38 20p13-q11.1(chr20:80106-30227427)x3 copy number gain See cases [RCV000133996] Chr20:80106..30227427 [GRCh38]
Chr20:60747..29462103 [GRCh37]
Chr20:8747..28075764 [NCBI36]
Chr20:20p13-q11.1		 pathogenic
GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3 copy number gain See cases [RCV000135859] Chr20:99557..64277321 [GRCh38]
Chr20:80198..62908674 [GRCh37]
Chr20:28198..62379118 [NCBI36]
Chr20:20p13-q13.33		 pathogenic
GRCh38/hg38 20p13-12.3(chr20:4343033-6911730)x1 copy number loss See cases [RCV000137695] Chr20:4343033..6911730 [GRCh38]
Chr20:4323680..6892377 [GRCh37]
Chr20:4271680..6840377 [NCBI36]
Chr20:20p13-12.3		 pathogenic
GRCh38/hg38 20p13-12.1(chr20:80106-13029401)x3 copy number gain See cases [RCV000138677] Chr20:80106..13029401 [GRCh38]
Chr20:60747..13010049 [GRCh37]
Chr20:8747..12958049 [NCBI36]
Chr20:20p13-12.1		 pathogenic
GRCh38/hg38 20p13-12.3(chr20:80093-6386012)x3 copy number gain See cases [RCV000139597] Chr20:80093..6386012 [GRCh38]
Chr20:60734..6366659 [GRCh37]
Chr20:8734..6314659 [NCBI36]
Chr20:20p13-12.3		 pathogenic
GRCh38/hg38 20p13-12.3(chr20:84402-6159078)x3 copy number gain See cases [RCV000141348] Chr20:84402..6159078 [GRCh38]
Chr20:65043..6139725 [GRCh37]
Chr20:13043..6087725 [NCBI36]
Chr20:20p13-12.3		 pathogenic
GRCh38/hg38 20p13-11.1(chr20:80927-26324843)x3 copy number gain See cases [RCV000142017] Chr20:80927..26324843 [GRCh38]
Chr20:61568..26305479 [GRCh37]
Chr20:9568..26253479 [NCBI36]
Chr20:20p13-11.1		 pathogenic
GRCh38/hg38 20p13-12.3(chr20:1269303-8626911)x3 copy number gain See cases [RCV000142917] Chr20:1269303..8626911 [GRCh38]
Chr20:1249947..8607558 [GRCh37]
Chr20:1197947..8555558 [NCBI36]
Chr20:20p13-12.3		 pathogenic
GRCh38/hg38 20p13-11.23(chr20:80928-18688031)x3 copy number gain See cases [RCV000143426] Chr20:80928..18688031 [GRCh38]
Chr20:61569..18668675 [GRCh37]
Chr20:9569..18616675 [NCBI36]
Chr20:20p13-11.23		 pathogenic
NM_017671.5(FERMT1):c.850-272_1139+53del deletion Kindler syndrome [RCV000209854] Chr20:6094886..6097903 [GRCh38]
Chr20:6075533..6078550 [GRCh37]
Chr20:20p12.3		 pathogenic
NM_017671.5(FERMT1):c.1383C>A (p.Tyr461Ter) single nucleotide variant Kindler syndrome [RCV000209856] Chr20:6085276 [GRCh38]
Chr20:6065923 [GRCh37]
Chr20:20p12.3		 pathogenic|not provided
NM_017671.5(FERMT1):c.910G>T (p.Glu304Ter) single nucleotide variant FERMT1-related disorder [RCV004755812]|Kindler syndrome [RCV000209869]|not provided [RCV002515570] Chr20:6097571 [GRCh38]
Chr20:6078218 [GRCh37]
Chr20:20p12.3		 pathogenic
NM_017671.4:c.676insC insertion Kindler syndrome [RCV000209875] Chr20:20p12.3 pathogenic
NM_017671.5(FERMT1):c.994_995del (p.Gln332fs) microsatellite Kindler syndrome [RCV000209882] Chr20:6096996..6096997 [GRCh38]
Chr20:6077643..6077644 [GRCh37]
Chr20:20p12.3		 pathogenic|not provided
NM_017671.5(FERMT1):c.889A>G (p.Arg297Gly) single nucleotide variant Kindler syndrome [RCV000209904] Chr20:6097592 [GRCh38]
Chr20:6078239 [GRCh37]
Chr20:20p12.3		 pathogenic|not provided
g.6116239_6120157del deletion Kindler syndrome [RCV000209905] Chr20:20p12.3 pathogenic
NM_017671.4(FERMT1):c.0_-19+470del deletion Kindler syndrome [RCV000209923] Chr20:6122304..6124256 [GRCh38]
Chr20:6102951..6104903 [GRCh37]
Chr20:20p12.3		 pathogenic
g.6109607_6112272del deletion Kindler syndrome [RCV000209940] Chr20:20p12.3 pathogenic
NM_017671.5(FERMT1):c.1139+740G>A single nucleotide variant Kindler syndrome [RCV000209831] Chr20:6094199 [GRCh38]
Chr20:6074846 [GRCh37]
Chr20:20p12.3		 pathogenic
NM_017671.5(FERMT1):c.958-1G>A single nucleotide variant Abnormality of the skin [RCV001814118] Chr20:6097034 [GRCh38]
Chr20:6077681 [GRCh37]
Chr20:20p12.3		 pathogenic|likely pathogenic
NM_017671.5(FERMT1):c.1675T>C (p.Trp559Arg) single nucleotide variant Kindler syndrome [RCV000209848] Chr20:6084083 [GRCh38]
Chr20:6064730 [GRCh37]
Chr20:20p12.3		 pathogenic
NM_017671.5(FERMT1):c.-20A>G single nucleotide variant Kindler syndrome [RCV000209860] Chr20:6122775 [GRCh38]
Chr20:6103422 [GRCh37]
Chr20:20p12.3		 pathogenic|not provided
NM_017671.5(FERMT1):c.1161del (p.Ala388fs) deletion Kindler syndrome [RCV000209879] Chr20:6089068 [GRCh38]
Chr20:6069715 [GRCh37]
Chr20:20p12.3		 pathogenic
NM_017671.5(FERMT1):c.1848G>A (p.Trp616Ter) single nucleotide variant Kindler syndrome [RCV000209891] Chr20:6079448 [GRCh38]
Chr20:6060095 [GRCh37]
Chr20:20p12.3		 pathogenic|likely pathogenic
NM_017671.5(FERMT1):c.373del (p.Cys125fs) deletion Kindler syndrome [RCV003145138] Chr20:6115823 [GRCh38]
Chr20:6096470 [GRCh37]
Chr20:20p12.3		 pathogenic|likely pathogenic
NM_017671.5(FERMT1):c.299_301del (p.Arg100del) deletion Kindler syndrome [RCV000209900] Chr20:6115895..6115897 [GRCh38]
Chr20:6096542..6096544 [GRCh37]
Chr20:20p12.3		 pathogenic
NM_017671.5(FERMT1):c.957+1G>A single nucleotide variant Kindler syndrome [RCV000209916] Chr20:6097523 [GRCh38]
Chr20:6078170 [GRCh37]
Chr20:20p12.3		 pathogenic|not provided
NM_017671.5(FERMT1):c.1176T>G (p.Tyr392Ter) single nucleotide variant Kindler syndrome [RCV000209929] Chr20:6089053 [GRCh38]
Chr20:6069700 [GRCh37]
Chr20:20p12.3		 pathogenic|not provided
NM_017671.5(FERMT1):c.1139+2T>C single nucleotide variant Kindler syndrome [RCV000209933] Chr20:6094937 [GRCh38]
Chr20:6075584 [GRCh37]
Chr20:20p12.3		 pathogenic|not provided
NM_017671.5(FERMT1):c.1198T>C (p.Ser400Pro) single nucleotide variant Kindler syndrome [RCV000209936] Chr20:6089031 [GRCh38]
Chr20:6069678 [GRCh37]
Chr20:20p12.3		 pathogenic
NM_017671.5(FERMT1):c.550dup (p.Ser184fs) duplication Kindler syndrome [RCV000209950] Chr20:6110493..6110494 [GRCh38]
Chr20:6091140..6091141 [GRCh37]
Chr20:20p12.3		 pathogenic|not provided
NM_017671.5(FERMT1):c.1867_1869del (p.Ile623del) deletion Kindler syndrome [RCV000209952] Chr20:6077338..6077340 [GRCh38]
Chr20:6057985..6057987 [GRCh37]
Chr20:20p12.3		 pathogenic
GRCh37/hg19 20p13-11.1(chr20:80198-26075841)x3 copy number gain See cases [RCV000239954] Chr20:80198..26075841 [GRCh37]
Chr20:20p13-11.1		 pathogenic
NM_017671.5(FERMT1):c.1577G>A (p.Arg526Lys) single nucleotide variant Kindler syndrome [RCV000399582]|not provided [RCV001512885]|not specified [RCV000243729] Chr20:6085082 [GRCh38]
Chr20:6065729 [GRCh37]
Chr20:20p12.3		 benign
NM_017671.5(FERMT1):c.1575A>G (p.Lys525=) single nucleotide variant Kindler syndrome [RCV000362483]|not provided [RCV001512886]|not specified [RCV000251704] Chr20:6085084 [GRCh38]
Chr20:6065731 [GRCh37]
Chr20:20p12.3		 benign
NM_017671.5(FERMT1):c.1695T>C (p.Phe565=) single nucleotide variant Kindler syndrome [RCV000279721]|not provided [RCV001512883]|not specified [RCV000247068] Chr20:6084063 [GRCh38]
Chr20:6064710 [GRCh37]
Chr20:20p12.3		 benign
NM_017671.5(FERMT1):c.114T>C (p.His38=) single nucleotide variant Kindler syndrome [RCV000267216]|not provided [RCV001516720]|not specified [RCV000242565] Chr20:6119441 [GRCh38]
Chr20:6100088 [GRCh37]
Chr20:20p12.3		 benign
NM_017671.5(FERMT1):c.152-4G>A single nucleotide variant Kindler syndrome [RCV000361995]|not provided [RCV001516719]|not specified [RCV000247551] Chr20:6116048 [GRCh38]
Chr20:6096695 [GRCh37]
Chr20:20p12.3		 benign
NM_017671.5(FERMT1):c.-18-11T>G single nucleotide variant Kindler syndrome [RCV000273200]|not provided [RCV001689879]|not specified [RCV000250592] Chr20:6119583 [GRCh38]
Chr20:6100230 [GRCh37]
Chr20:20p12.3		 benign
NM_017671.4(FERMT1):c.-514T>G single nucleotide variant Kindler syndrome [RCV000301589] Chr20:6123269 [GRCh38]
Chr20:6103916 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_017671.5(FERMT1):c.1884C>T (p.Asn628=) single nucleotide variant Kindler syndrome [RCV000285536]|not provided [RCV001516573] Chr20:6077323 [GRCh38]
Chr20:6057970 [GRCh37]
Chr20:20p12.3		 benign|likely benign
NM_017671.4(FERMT1):c.-354G>C single nucleotide variant Kindler syndrome [RCV000305483] Chr20:6123109 [GRCh38]
Chr20:6103756 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_017671.5(FERMT1):c.*1155T>C single nucleotide variant Kindler syndrome [RCV000289728]|not provided [RCV004717432] Chr20:6076018 [GRCh38]
Chr20:6056665 [GRCh37]
Chr20:20p12.3		 benign|likely benign
NM_017671.4(FERMT1):c.-666G>A single nucleotide variant Kindler syndrome [RCV000292507]|not provided [RCV004718537] Chr20:6123421 [GRCh38]
Chr20:6104068 [GRCh37]
Chr20:20p12.3		 benign
NM_017671.5(FERMT1):c.1555G>C (p.Val519Leu) single nucleotide variant Kindler syndrome [RCV000270153]|not provided [RCV001865234] Chr20:6085104 [GRCh38]
Chr20:6065751 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_017671.5(FERMT1):c.606_608del (p.Met203del) deletion Kindler syndrome [RCV000307261]|not provided [RCV001515420] Chr20:6110436..6110438 [GRCh38]
Chr20:6091083..6091085 [GRCh37]
Chr20:20p12.3		 benign|uncertain significance
NM_017671.5(FERMT1):c.240T>C (p.Tyr80=) single nucleotide variant Kindler syndrome [RCV000356334]|not provided [RCV002057749] Chr20:6115956 [GRCh38]
Chr20:6096603 [GRCh37]
Chr20:20p12.3		 likely benign|uncertain significance
NM_017671.5(FERMT1):c.1795A>C (p.Ile599Leu) single nucleotide variant Inborn genetic diseases [RCV003258777]|Kindler syndrome [RCV000393314]|not provided [RCV002523171] Chr20:6079501 [GRCh38]
Chr20:6060148 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_017671.4(FERMT1):c.-588C>T single nucleotide variant Kindler syndrome [RCV000271522] Chr20:6123343 [GRCh38]
Chr20:6103990 [GRCh37]
Chr20:20p12.3		 likely benign|uncertain significance
NM_017671.5(FERMT1):c.467A>G (p.Asn156Ser) single nucleotide variant Kindler syndrome [RCV000310894]|not provided [RCV000958036] Chr20:6112542 [GRCh38]
Chr20:6093189 [GRCh37]
Chr20:20p12.3		 benign|likely benign
NM_017671.5(FERMT1):c.*697G>A single nucleotide variant Kindler syndrome [RCV000357172] Chr20:6076476 [GRCh38]
Chr20:6057123 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_017671.5(FERMT1):c.*2073A>T single nucleotide variant Kindler syndrome [RCV000358257] Chr20:6075100 [GRCh38]
Chr20:6055747 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_017671.5(FERMT1):c.*438C>T single nucleotide variant Kindler syndrome [RCV000274103] Chr20:6076735 [GRCh38]
Chr20:6057382 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_017671.5(FERMT1):c.*2058C>T single nucleotide variant Kindler syndrome [RCV000361547]|not provided [RCV004717429] Chr20:6075115 [GRCh38]
Chr20:6055762 [GRCh37]
Chr20:20p12.3		 benign
NM_017671.5(FERMT1):c.*207C>G single nucleotide variant Kindler syndrome [RCV000277758] Chr20:6076966 [GRCh38]
Chr20:6057613 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_017671.5(FERMT1):c.1575_1577delinsGAA (p.Arg526Lys) indel Kindler syndrome [RCV000314902]|not specified [RCV003488555] Chr20:6085082..6085084 [GRCh38]
Chr20:6065729..6065731 [GRCh37]
Chr20:20p12.3		 benign|uncertain significance
NM_017671.5(FERMT1):c.*2124del deletion Kindler syndrome [RCV000314807] Chr20:6075049 [GRCh38]
Chr20:6055696 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_017671.5(FERMT1):c.1014C>T (p.Ser338=) single nucleotide variant Kindler syndrome [RCV000316453]|not provided [RCV000884274] Chr20:6096977 [GRCh38]
Chr20:6077624 [GRCh37]
Chr20:20p12.3		 benign|likely benign|uncertain significance
NM_017671.5(FERMT1):c.1415C>T (p.Ser472Leu) single nucleotide variant Kindler syndrome [RCV000365948]|not provided [RCV001865235] Chr20:6085244 [GRCh38]
Chr20:6065891 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_017671.4(FERMT1):c.-514T>C single nucleotide variant Kindler syndrome [RCV000365588]|not provided [RCV004717438] Chr20:6123269 [GRCh38]
Chr20:6103916 [GRCh37]
Chr20:20p12.3		 benign|likely benign
NM_017671.5(FERMT1):c.1594-6G>A single nucleotide variant FERMT1-related disorder [RCV003957747]|Kindler syndrome [RCV000368430]|not provided [RCV000960313] Chr20:6084170 [GRCh38]
Chr20:6064817 [GRCh37]
Chr20:20p12.3		 likely benign|uncertain significance
NM_017671.5(FERMT1):c.*2294T>G single nucleotide variant Kindler syndrome [RCV000279758] Chr20:6074879 [GRCh38]
Chr20:6055526 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_017671.5(FERMT1):c.*1777dup duplication Kindler syndrome [RCV000317536] Chr20:6075395..6075396 [GRCh38]
Chr20:6056042..6056043 [GRCh37]
Chr20:20p12.3		 benign
NM_017671.5(FERMT1):c.*251C>G single nucleotide variant Kindler syndrome [RCV000369945] Chr20:6076922 [GRCh38]
Chr20:6057569 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_017671.4(FERMT1):c.-606G>C single nucleotide variant Kindler syndrome [RCV000326623] Chr20:6123361 [GRCh38]
Chr20:6104008 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_017671.4(FERMT1):c.-343C>T single nucleotide variant Kindler syndrome [RCV000399275] Chr20:6123098 [GRCh38]
Chr20:6103745 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_017671.5(FERMT1):c.834C>T (p.Phe278=) single nucleotide variant Kindler syndrome [RCV000281098]|not provided [RCV002057747] Chr20:6107547 [GRCh38]
Chr20:6088194 [GRCh37]
Chr20:20p12.3		 likely benign|uncertain significance
NM_017671.5(FERMT1):c.*42A>G single nucleotide variant Kindler syndrome [RCV000320632] Chr20:6077131 [GRCh38]
Chr20:6057778 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_017671.5(FERMT1):c.1153C>T (p.Leu385=) single nucleotide variant Kindler syndrome [RCV000322179]|not provided [RCV001516717] Chr20:6089076 [GRCh38]
Chr20:6069723 [GRCh37]
Chr20:20p12.3		 benign|likely benign
NM_017671.5(FERMT1):c.722T>C (p.Val241Ala) single nucleotide variant Kindler syndrome [RCV000351570]|not provided [RCV001522654] Chr20:6110322 [GRCh38]
Chr20:6090969 [GRCh37]
Chr20:20p12.3		 benign|likely benign
NM_017671.5(FERMT1):c.*2227C>T single nucleotide variant Kindler syndrome [RCV000374924] Chr20:6074946 [GRCh38]
Chr20:6055593 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_017671.5(FERMT1):c.64A>G (p.Asn22Asp) single nucleotide variant Kindler syndrome [RCV000322283]|not provided [RCV001861169] Chr20:6119491 [GRCh38]
Chr20:6100138 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_017671.5(FERMT1):c.*194G>A single nucleotide variant Kindler syndrome [RCV000325702]|not provided [RCV001618598] Chr20:6076979 [GRCh38]
Chr20:6057626 [GRCh37]
Chr20:20p12.3		 benign|likely benign
NM_017671.5(FERMT1):c.*1472G>A single nucleotide variant Kindler syndrome [RCV000374456] Chr20:6075701 [GRCh38]
Chr20:6056348 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_017671.5(FERMT1):c.1944C>T (p.Gly648=) single nucleotide variant FERMT1-related disorder [RCV003957746]|Kindler syndrome [RCV000377637]|not provided [RCV002057746] Chr20:6077263 [GRCh38]
Chr20:6057910 [GRCh37]
Chr20:20p12.3		 likely benign|uncertain significance
NM_017671.5(FERMT1):c.52G>A (p.Val18Ile) single nucleotide variant Kindler syndrome [RCV000377020]|not provided [RCV002520028] Chr20:6119503 [GRCh38]
Chr20:6100150 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_017671.5(FERMT1):c.1416G>A (p.Ser472=) single nucleotide variant FERMT1-related disorder [RCV003910318]|Kindler syndrome [RCV000327685]|not provided [RCV000962714] Chr20:6085243 [GRCh38]
Chr20:6065890 [GRCh37]
Chr20:20p12.3		 benign|likely benign|uncertain significance
NM_017671.5(FERMT1):c.-28T>C single nucleotide variant Kindler syndrome [RCV000328011]|not provided [RCV001675838] Chr20:6122783 [GRCh38]
Chr20:6103430 [GRCh37]
Chr20:20p12.3		 benign|likely benign
NM_017671.4(FERMT1):c.-609G>A single nucleotide variant Kindler syndrome [RCV000381130] Chr20:6123364 [GRCh38]
Chr20:6104011 [GRCh37]
Chr20:20p12.3		 likely benign|uncertain significance
NM_017671.5(FERMT1):c.*2123dup duplication Kindler syndrome [RCV000343884]|not provided [RCV004694626] Chr20:6075049..6075050 [GRCh38]
Chr20:6055696..6055697 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_017671.5(FERMT1):c.*2127dup duplication Kindler syndrome [RCV000349864] Chr20:6075045..6075046 [GRCh38]
Chr20:6055692..6055693 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_017671.5(FERMT1):c.*266A>C single nucleotide variant Kindler syndrome [RCV000331584] Chr20:6076907 [GRCh38]
Chr20:6057554 [GRCh37]
Chr20:20p12.3		 likely benign|uncertain significance
NM_017671.5(FERMT1):c.1074A>G (p.Lys358=) single nucleotide variant Kindler syndrome [RCV000379134] Chr20:6096917 [GRCh38]
Chr20:6077564 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_017671.5(FERMT1):c.-105C>G single nucleotide variant Kindler syndrome [RCV000288059]|not provided [RCV001672596] Chr20:6122860 [GRCh38]
Chr20:6103507 [GRCh37]
Chr20:20p12.3		 benign
NM_017671.5(FERMT1):c.*1458C>T single nucleotide variant Kindler syndrome [RCV000330595] Chr20:6075715 [GRCh38]
Chr20:6056362 [GRCh37]
Chr20:20p12.3		 benign|uncertain significance
NM_017671.4(FERMT1):c.-646G>C single nucleotide variant Kindler syndrome [RCV000332246]|not provided [RCV004717439] Chr20:6123401 [GRCh38]
Chr20:6104048 [GRCh37]
Chr20:20p12.3		 benign
NM_017671.5(FERMT1):c.*1299C>T single nucleotide variant Kindler syndrome [RCV000381725] Chr20:6075874 [GRCh38]
Chr20:6056521 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_017671.5(FERMT1):c.1600G>A (p.Ala534Thr) single nucleotide variant Kindler syndrome [RCV000311451]|not provided [RCV000520612] Chr20:6084158 [GRCh38]
Chr20:6064805 [GRCh37]
Chr20:20p12.3		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_017671.5(FERMT1):c.*72G>T single nucleotide variant Kindler syndrome [RCV000290547]|not provided [RCV001643037] Chr20:6077101 [GRCh38]
Chr20:6057748 [GRCh37]
Chr20:20p12.3		 benign|likely benign
NM_017671.4(FERMT1):c.-301C>T single nucleotide variant Kindler syndrome [RCV000335730]|not provided [RCV004717435] Chr20:6123056 [GRCh38]
Chr20:6103703 [GRCh37]
Chr20:20p12.3		 benign|likely benign
NM_017671.5(FERMT1):c.-136C>T single nucleotide variant Kindler syndrome [RCV000388489] Chr20:6122891 [GRCh38]
Chr20:6103538 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_017671.5(FERMT1):c.*193C>T single nucleotide variant Kindler syndrome [RCV000382605]|not provided [RCV004717434] Chr20:6076980 [GRCh38]
Chr20:6057627 [GRCh37]
Chr20:20p12.3		 benign|likely benign
NM_017671.5(FERMT1):c.-93C>G single nucleotide variant Kindler syndrome [RCV000382608] Chr20:6122848 [GRCh38]
Chr20:6103495 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_017671.5(FERMT1):c.*2204T>C single nucleotide variant Kindler syndrome [RCV000292645] Chr20:6074969 [GRCh38]
Chr20:6055616 [GRCh37]
Chr20:20p12.3		 likely benign|uncertain significance
NM_017671.5(FERMT1):c.-154GCC[2] microsatellite Kindler syndrome [RCV000294176]|not provided [RCV004694629] Chr20:6122901..6122903 [GRCh38]
Chr20:6103548..6103550 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_017671.5(FERMT1):c.747-12G>A single nucleotide variant Kindler syndrome [RCV000294206]|not provided [RCV002057748] Chr20:6107646 [GRCh38]
Chr20:6088293 [GRCh37]
Chr20:20p12.3		 benign|likely benign|uncertain significance
NM_017671.4(FERMT1):c.-692A>G single nucleotide variant Kindler syndrome [RCV000338174] Chr20:6123447 [GRCh38]
Chr20:6104094 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_017671.5(FERMT1):c.*2118A>G single nucleotide variant Kindler syndrome [RCV000390454] Chr20:6075055 [GRCh38]
Chr20:6055702 [GRCh37]
Chr20:20p12.3		 likely benign|uncertain significance
NM_017671.4(FERMT1):c.-644G>C single nucleotide variant Kindler syndrome [RCV000277407] Chr20:6123399 [GRCh38]
Chr20:6104046 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_017671.5(FERMT1):c.*960G>A single nucleotide variant Kindler syndrome [RCV000341140] Chr20:6076213 [GRCh38]
Chr20:6056860 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_017671.5(FERMT1):c.-189C>A single nucleotide variant Kindler syndrome [RCV000395077] Chr20:6122944 [GRCh38]
Chr20:6103591 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_017671.5(FERMT1):c.763C>T (p.Arg255Cys) single nucleotide variant Kindler syndrome [RCV000397362]|not provided [RCV001522482] Chr20:6107618 [GRCh38]
Chr20:6088265 [GRCh37]
Chr20:20p12.3		 benign|likely benign
NM_017671.5(FERMT1):c.1674G>A (p.Ala558=) single nucleotide variant Kindler syndrome [RCV000337128]|not provided [RCV001512884] Chr20:6084084 [GRCh38]
Chr20:6064731 [GRCh37]
Chr20:20p12.3		 benign
NM_017671.4(FERMT1):c.-366C>G single nucleotide variant Kindler syndrome [RCV000360241]|not provided [RCV004717436] Chr20:6123121 [GRCh38]
Chr20:6103768 [GRCh37]
Chr20:20p12.3		 benign|likely benign
NM_017671.5(FERMT1):c.*2016T>A single nucleotide variant Kindler syndrome [RCV000260025]|not provided [RCV004717430] Chr20:6075157 [GRCh38]
Chr20:6055804 [GRCh37]
Chr20:20p12.3		 benign|likely benign
NM_017671.5(FERMT1):c.234C>T (p.Asp78=) single nucleotide variant Kindler syndrome [RCV000261514]|not provided [RCV001514512] Chr20:6115962 [GRCh38]
Chr20:6096609 [GRCh37]
Chr20:20p12.3		 benign|likely benign
NM_017671.5(FERMT1):c.211C>T (p.Leu71=) single nucleotide variant Kindler syndrome [RCV000297887]|not provided [RCV001522484] Chr20:6115985 [GRCh38]
Chr20:6096632 [GRCh37]
Chr20:20p12.3		 benign|likely benign
NM_017671.5(FERMT1):c.1861-8T>C single nucleotide variant FERMT1-related disorder [RCV004755889]|Kindler syndrome [RCV000342805]|not provided [RCV000948031] Chr20:6077354 [GRCh38]
Chr20:6058001 [GRCh37]
Chr20:20p12.3		 benign|uncertain significance
NM_017671.5(FERMT1):c.*1035C>T single nucleotide variant Kindler syndrome [RCV000398851] Chr20:6076138 [GRCh38]
Chr20:6056785 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_017671.5(FERMT1):c.695C>T (p.Ala232Val) single nucleotide variant Kindler syndrome [RCV000400921]|not provided [RCV001850820] Chr20:6110349 [GRCh38]
Chr20:6090996 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_017671.5(FERMT1):c.780A>G (p.Gln260=) single nucleotide variant Kindler syndrome [RCV000338551]|not provided [RCV002523172] Chr20:6107601 [GRCh38]
Chr20:6088248 [GRCh37]
Chr20:20p12.3		 likely benign|uncertain significance
NM_017671.4(FERMT1):c.-655C>T single nucleotide variant Kindler syndrome [RCV000386731] Chr20:6123410 [GRCh38]
Chr20:6104057 [GRCh37]
Chr20:20p12.3		 likely benign|uncertain significance
NM_017671.5(FERMT1):c.*1417T>C single nucleotide variant Kindler syndrome [RCV000387304] Chr20:6075756 [GRCh38]
Chr20:6056403 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_017671.5(FERMT1):c.*1464C>T single nucleotide variant Kindler syndrome [RCV000263702]|not provided [RCV004717431] Chr20:6075709 [GRCh38]
Chr20:6056356 [GRCh37]
Chr20:20p12.3		 benign
NM_017671.5(FERMT1):c.*730C>T single nucleotide variant Kindler syndrome [RCV000300161] Chr20:6076443 [GRCh38]
Chr20:6057090 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_017671.5(FERMT1):c.532+8T>C single nucleotide variant Kindler syndrome [RCV000345816]|not provided [RCV001516718]|not specified [RCV003488556] Chr20:6112469 [GRCh38]
Chr20:6093116 [GRCh37]
Chr20:20p12.3		 benign|likely benign
NM_017671.5(FERMT1):c.*1076C>T single nucleotide variant Kindler syndrome [RCV000347060]|not provided [RCV004694627] Chr20:6076097 [GRCh38]
Chr20:6056744 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_017671.5(FERMT1):c.479T>C (p.Ile160Thr) single nucleotide variant Kindler syndrome [RCV000402388]|not provided [RCV001522483] Chr20:6112530 [GRCh38]
Chr20:6093177 [GRCh37]
Chr20:20p12.3		 benign|likely benign
NM_017671.5(FERMT1):c.1264+14A>G single nucleotide variant Kindler syndrome [RCV000264683]|not provided [RCV001512449] Chr20:6088951 [GRCh38]
Chr20:6069598 [GRCh37]
Chr20:20p12.3		 benign|likely benign
NM_017671.4(FERMT1):c.-456C>A single nucleotide variant Kindler syndrome [RCV000265198]|not provided [RCV004717437] Chr20:6123211 [GRCh38]
Chr20:6103858 [GRCh37]
Chr20:20p12.3		 benign|likely benign
NM_017671.5(FERMT1):c.*2069T>C single nucleotide variant Kindler syndrome [RCV000265948]|not provided [RCV004717428] Chr20:6075104 [GRCh38]
Chr20:6055751 [GRCh37]
Chr20:20p12.3		 benign
NM_017671.5(FERMT1):c.*1004G>A single nucleotide variant Kindler syndrome [RCV000302675]|not provided [RCV004694628] Chr20:6076169 [GRCh38]
Chr20:6056816 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_017671.5(FERMT1):c.-185A>G single nucleotide variant Kindler syndrome [RCV000348999]|not provided [RCV001653642] Chr20:6122940 [GRCh38]
Chr20:6103587 [GRCh37]
Chr20:20p12.3		 benign
NM_017671.5(FERMT1):c.*932C>T single nucleotide variant Kindler syndrome [RCV000306052] Chr20:6076241 [GRCh38]
Chr20:6056888 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_017671.5(FERMT1):c.*1365C>A single nucleotide variant Kindler syndrome [RCV000352764] Chr20:6075808 [GRCh38]
Chr20:6056455 [GRCh37]
Chr20:20p12.3		 likely benign|uncertain significance
NM_017671.5(FERMT1):c.*902A>G single nucleotide variant Kindler syndrome [RCV000353867]|not provided [RCV004717433] Chr20:6076271 [GRCh38]
Chr20:6056918 [GRCh37]
Chr20:20p12.3		 benign|likely benign
NM_017671.5(FERMT1):c.*951A>G single nucleotide variant Kindler syndrome [RCV000399346] Chr20:6076222 [GRCh38]
Chr20:6056869 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_017671.5(FERMT1):c.*2124_*2125del deletion Kindler syndrome [RCV000400400] Chr20:6075048..6075049 [GRCh38]
Chr20:6055695..6055696 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_017671.5(FERMT1):c.*2068A>G single nucleotide variant Kindler syndrome [RCV000304762] Chr20:6075105 [GRCh38]
Chr20:6055752 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_017671.5(FERMT1):c.1637T>G (p.Met546Arg) single nucleotide variant Kindler syndrome [RCV000402303] Chr20:6084121 [GRCh38]
Chr20:6064768 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_017671.5(FERMT1):c.*1375G>A single nucleotide variant Kindler syndrome [RCV000295480] Chr20:6075798 [GRCh38]
Chr20:6056445 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_017671.5(FERMT1):c.*2250C>T single nucleotide variant Kindler syndrome [RCV000336620] Chr20:6074923 [GRCh38]
Chr20:6055570 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_017671.5(FERMT1):c.*896G>C single nucleotide variant Kindler syndrome [RCV000408062] Chr20:6076277 [GRCh38]
Chr20:6056924 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_017671.5(FERMT1):c.-116A>G single nucleotide variant Kindler syndrome [RCV000352328] Chr20:6122871 [GRCh38]
Chr20:6103518 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_017671.5(FERMT1):c.1045A>C (p.Asn349His) single nucleotide variant Kindler syndrome [RCV000286867] Chr20:6096946 [GRCh38]
Chr20:6077593 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_017671.4(FERMT1):c.-710G>T single nucleotide variant Kindler syndrome [RCV000373320] Chr20:6123465 [GRCh38]
Chr20:6104112 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_017671.5(FERMT1):c.-215G>A single nucleotide variant Kindler syndrome [RCV000299550] Chr20:6122970 [GRCh38]
Chr20:6103617 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_017671.5(FERMT1):c.*2108del deletion Kindler syndrome [RCV000310513] Chr20:6075065 [GRCh38]
Chr20:6055712 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_017671.5(FERMT1):c.533-14C>T single nucleotide variant Kindler syndrome [RCV001138872]|not provided [RCV002070635] Chr20:6110525 [GRCh38]
Chr20:6091172 [GRCh37]
Chr20:20p12.3		 likely benign|uncertain significance
NM_017671.5(FERMT1):c.524G>C (p.Gly175Ala) single nucleotide variant Inborn genetic diseases [RCV004032327]|Kindler syndrome [RCV001138873]|not provided [RCV001856778] Chr20:6112485 [GRCh38]
Chr20:6093132 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_017671.5(FERMT1):c.*908A>G single nucleotide variant Kindler syndrome [RCV001138661] Chr20:6076265 [GRCh38]
Chr20:6056912 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_017671.5(FERMT1):c.*764G>A single nucleotide variant Kindler syndrome [RCV001138662] Chr20:6076409 [GRCh38]
Chr20:6057056 [GRCh37]
Chr20:20p12.3		 uncertain significance
GRCh37/hg19 20p13-12.1(chr20:4392930-12667768)x1 copy number loss See cases [RCV000446718] Chr20:4392930..12667768 [GRCh37]
Chr20:20p13-12.1		 pathogenic
NM_017671.5(FERMT1):c.676dup (p.Gln226fs) duplication FERMT1-related disorder [RCV004755927]|Kindler syndrome [RCV000789034]|not provided [RCV000481477] Chr20:6110367..6110368 [GRCh38]
Chr20:6091014..6091015 [GRCh37]
Chr20:20p12.3		 pathogenic
NM_017671.5(FERMT1):c.1371+4A>G single nucleotide variant Kindler syndrome [RCV001352795]|not provided [RCV000479041] Chr20:6087773 [GRCh38]
Chr20:6068420 [GRCh37]
Chr20:20p12.3		 pathogenic
GRCh37/hg19 20p13-q11.21(chr20:80198-26208081)x3 copy number gain not provided [RCV000487461] Chr20:80198..26208081 [GRCh37]
Chr20:20p13-q11.21		 pathogenic
GRCh37/hg19 20p13-12.3(chr20:2463101-8185680)x1 copy number loss See cases [RCV000511897] Chr20:2463101..8185680 [GRCh37]
Chr20:20p13-12.3		 pathogenic
GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3 copy number gain See cases [RCV000510832] Chr20:61569..62915555 [GRCh37]
Chr20:20p13-q13.33		 pathogenic
GRCh37/hg19 20p13-q13.33(chr20:61569-62915555) copy number gain See cases [RCV000512450] Chr20:61569..62915555 [GRCh37]
Chr20:20p13-q13.33		 pathogenic
GRCh37/hg19 20p13-12.2(chr20:61568-10486106)x3 copy number gain See cases [RCV000512556] Chr20:61568..10486106 [GRCh37]
Chr20:20p13-12.2		 likely pathogenic
GRCh37/hg19 20p13-12.1(chr20:3092739-17091453)x1 copy number loss not provided [RCV000684134] Chr20:3092739..17091453 [GRCh37]
Chr20:20p13-12.1		 pathogenic
GRCh37/hg19 20p13-q13.33(chr20:63244-62948788)x3 copy number gain not provided [RCV000741058] Chr20:63244..62948788 [GRCh37]
Chr20:20p13-q13.33		 pathogenic
GRCh37/hg19 20p13-q13.33(chr20:63244-62961294)x3 copy number gain not provided [RCV000741059] Chr20:63244..62961294 [GRCh37]
Chr20:20p13-q13.33		 pathogenic
GRCh37/hg19 20p13-q13.33(chr20:63244-62912463)x3 copy number gain not provided [RCV000741057] Chr20:63244..62912463 [GRCh37]
Chr20:20p13-q13.33		 pathogenic
NM_017671.5(FERMT1):c.1264+50G>A single nucleotide variant not provided [RCV001537474]|not specified [RCV003487439] Chr20:6088915 [GRCh38]
Chr20:6069562 [GRCh37]
Chr20:20p12.3		 benign
NM_017671.5(FERMT1):c.532+300C>G single nucleotide variant not provided [RCV001681195] Chr20:6112177 [GRCh38]
Chr20:6092824 [GRCh37]
Chr20:20p12.3		 benign
NM_017671.5(FERMT1):c.849+330_849+332del deletion not provided [RCV001708034] Chr20:6107200..6107202 [GRCh38]
Chr20:6087847..6087849 [GRCh37]
Chr20:20p12.3		 benign
NM_017671.5(FERMT1):c.151+49G>T single nucleotide variant not provided [RCV001534766]|not specified [RCV003487437] Chr20:6119355 [GRCh38]
Chr20:6100002 [GRCh37]
Chr20:20p12.3		 benign
NM_017671.5(FERMT1):c.385+121C>A single nucleotide variant not provided [RCV001648804] Chr20:6115690 [GRCh38]
Chr20:6096337 [GRCh37]
Chr20:20p12.3		 benign
NM_017671.5(FERMT1):c.1718+52C>T single nucleotide variant not provided [RCV001666559]|not specified [RCV003487643] Chr20:6083988 [GRCh38]
Chr20:6064635 [GRCh37]
Chr20:20p12.3		 benign
NM_017671.5(FERMT1):c.1139+1053C>T single nucleotide variant not provided [RCV001708461] Chr20:6093886 [GRCh38]
Chr20:6074533 [GRCh37]
Chr20:20p12.3		 benign
NM_017671.5(FERMT1):c.1627G>A (p.Val543Met) single nucleotide variant FERMT1-related disorder [RCV003960840]|Kindler syndrome [RCV001138760]|not provided [RCV000971685] Chr20:6084131 [GRCh38]
Chr20:6064778 [GRCh37]
Chr20:20p12.3		 likely benign
NM_017671.5(FERMT1):c.2019C>T (p.Thr673=) single nucleotide variant FERMT1-related disorder [RCV003948294]|not provided [RCV000879937] Chr20:6077188 [GRCh38]
Chr20:6057835 [GRCh37]
Chr20:20p12.3		 likely benign
NM_017671.5(FERMT1):c.1278G>A (p.Val426=) single nucleotide variant not provided [RCV000926894] Chr20:6087870 [GRCh38]
Chr20:6068517 [GRCh37]
Chr20:20p12.3		 likely benign
NM_017671.5(FERMT1):c.293G>A (p.Arg98His) single nucleotide variant FERMT1-related disorder [RCV003930582]|Kindler syndrome [RCV001138874]|not provided [RCV000882780] Chr20:6115903 [GRCh38]
Chr20:6096550 [GRCh37]
Chr20:20p12.3		 likely benign
NM_017671.5(FERMT1):c.51C>T (p.Arg17=) single nucleotide variant FERMT1-related disorder [RCV003940475]|Kindler syndrome [RCV001141458]|not provided [RCV000883566] Chr20:6119504 [GRCh38]
Chr20:6100151 [GRCh37]
Chr20:20p12.3		 benign
NM_017671.5(FERMT1):c.438T>C (p.Phe146=) single nucleotide variant not provided [RCV000922622] Chr20:6112571 [GRCh38]
Chr20:6093218 [GRCh37]
Chr20:20p12.3		 likely benign
NM_017671.5(FERMT1):c.1791C>T (p.Thr597=) single nucleotide variant not provided [RCV000917458] Chr20:6079505 [GRCh38]
Chr20:6060152 [GRCh37]
Chr20:20p12.3		 benign
NM_017671.5(FERMT1):c.1089+8C>T single nucleotide variant not provided [RCV000966262] Chr20:6096894 [GRCh38]
Chr20:6077541 [GRCh37]
Chr20:20p12.3		 likely benign
NM_017671.5(FERMT1):c.564C>A (p.Thr188=) single nucleotide variant Kindler syndrome [RCV001136618] Chr20:6110480 [GRCh38]
Chr20:6091127 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_017671.5(FERMT1):c.-262C>G single nucleotide variant Kindler syndrome [RCV001136727] Chr20:6123017 [GRCh38]
Chr20:6103664 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_017671.5(FERMT1):c.1648G>A (p.Glu550Lys) single nucleotide variant Inborn genetic diseases [RCV004032322]|Kindler syndrome [RCV001138340]|not provided [RCV002556947] Chr20:6084110 [GRCh38]
Chr20:6064757 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_017671.5(FERMT1):c.555A>G (p.Lys185=) single nucleotide variant Kindler syndrome [RCV001136619] Chr20:6110489 [GRCh38]
Chr20:6091136 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_017671.4(FERMT1):c.-448C>A single nucleotide variant Kindler syndrome [RCV001136728] Chr20:6123203 [GRCh38]
Chr20:6103850 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_017671.5(FERMT1):c.*2124C>A single nucleotide variant Kindler syndrome [RCV001138565]|not provided [RCV004694856] Chr20:6075049 [GRCh38]
Chr20:6055696 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_017671.5(FERMT1):c.*1338T>G single nucleotide variant Kindler syndrome [RCV001142980] Chr20:6075835 [GRCh38]
Chr20:6056482 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_017671.5(FERMT1):c.1992C>T (p.Leu664=) single nucleotide variant Kindler syndrome [RCV001143082]|not provided [RCV002070720] Chr20:6077215 [GRCh38]
Chr20:6057862 [GRCh37]
Chr20:20p12.3		 likely benign|uncertain significance
NM_017671.5(FERMT1):c.*1774G>A single nucleotide variant Kindler syndrome [RCV001141130] Chr20:6075399 [GRCh38]
Chr20:6056046 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_017671.5(FERMT1):c.*298G>T single nucleotide variant Kindler syndrome [RCV001141242] Chr20:6076875 [GRCh38]
Chr20:6057522 [GRCh37]
Chr20:20p12.3		 likely benign
NM_017671.5(FERMT1):c.746+66C>T single nucleotide variant not provided [RCV001608995] Chr20:6110232 [GRCh38]
Chr20:6090879 [GRCh37]
Chr20:20p12.3		 benign
NM_017671.5(FERMT1):c.1139+713A>G single nucleotide variant not provided [RCV001655061] Chr20:6094226 [GRCh38]
Chr20:6074873 [GRCh37]
Chr20:20p12.3		 benign
NM_017671.5(FERMT1):c.1089+101dup duplication not provided [RCV001658596] Chr20:6096782..6096783 [GRCh38]
Chr20:6077429..6077430 [GRCh37]
Chr20:20p12.3		 benign
NM_017671.5(FERMT1):c.-18-130C>T single nucleotide variant not provided [RCV001615482] Chr20:6119702 [GRCh38]
Chr20:6100349 [GRCh37]
Chr20:20p12.3		 benign
NM_017671.5(FERMT1):c.850-168dup duplication not provided [RCV001659357] Chr20:6097790..6097791 [GRCh38]
Chr20:6078437..6078438 [GRCh37]
Chr20:20p12.3		 benign
NM_017671.5(FERMT1):c.1265-223_1265-222insTTTGA insertion not provided [RCV001648624] Chr20:6088105..6088106 [GRCh38]
Chr20:6068752..6068753 [GRCh37]
Chr20:20p12.3		 benign
NM_017671.5(FERMT1):c.532+34C>T single nucleotide variant not provided [RCV001609413]|not specified [RCV003487526] Chr20:6112443 [GRCh38]
Chr20:6093090 [GRCh37]
Chr20:20p12.3		 benign
NM_017671.5(FERMT1):c.1089+184G>T single nucleotide variant not provided [RCV001691288] Chr20:6096718 [GRCh38]
Chr20:6077365 [GRCh37]
Chr20:20p12.3		 benign
NM_017671.5(FERMT1):c.1718+133T>C single nucleotide variant not provided [RCV001615947] Chr20:6083907 [GRCh38]
Chr20:6064554 [GRCh37]
Chr20:20p12.3		 benign
NM_017671.5(FERMT1):c.849+174C>T single nucleotide variant not provided [RCV001639920] Chr20:6107358 [GRCh38]
Chr20:6088005 [GRCh37]
Chr20:20p12.3		 benign
NM_017671.5(FERMT1):c.-19+80G>C single nucleotide variant not provided [RCV001609132] Chr20:6122694 [GRCh38]
Chr20:6103341 [GRCh37]
Chr20:20p12.3		 benign
NM_017671.5(FERMT1):c.1139+837C>T single nucleotide variant not provided [RCV001635544] Chr20:6094102 [GRCh38]
Chr20:6074749 [GRCh37]
Chr20:20p12.3		 benign
NM_017671.5(FERMT1):c.957+10C>A single nucleotide variant FERMT1-related disorder [RCV003933171]|not provided [RCV000932747] Chr20:6097514 [GRCh38]
Chr20:6078161 [GRCh37]
Chr20:20p12.3		 likely benign
NM_017671.5(FERMT1):c.532+10G>C single nucleotide variant not provided [RCV000980811] Chr20:6112467 [GRCh38]
Chr20:6093114 [GRCh37]
Chr20:20p12.3		 likely benign
NM_017671.5(FERMT1):c.*1843C>A single nucleotide variant Kindler syndrome [RCV001141129] Chr20:6075330 [GRCh38]
Chr20:6055977 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_017671.5(FERMT1):c.*305C>T single nucleotide variant Kindler syndrome [RCV001141241] Chr20:6076868 [GRCh38]
Chr20:6057515 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_017671.5(FERMT1):c.1599C>T (p.Ala533=) single nucleotide variant Kindler syndrome [RCV001138761]|not provided [RCV001506876] Chr20:6084159 [GRCh38]
Chr20:6064806 [GRCh37]
Chr20:20p12.3		 likely benign|uncertain significance
NM_017671.5(FERMT1):c.1307T>C (p.Phe436Ser) single nucleotide variant Kindler syndrome [RCV001141343] Chr20:6087841 [GRCh38]
Chr20:6068488 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_017671.5(FERMT1):c.279G>A (p.Gln93=) single nucleotide variant Kindler syndrome [RCV001138875]|not provided [RCV002070636] Chr20:6115917 [GRCh38]
Chr20:6096564 [GRCh37]
Chr20:20p12.3		 likely benign|uncertain significance
NM_017671.5(FERMT1):c.*174T>A single nucleotide variant Kindler syndrome [RCV001143079] Chr20:6076999 [GRCh38]
Chr20:6057646 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_017671.5(FERMT1):c.*59A>G single nucleotide variant Kindler syndrome [RCV001143080] Chr20:6077114 [GRCh38]
Chr20:6057761 [GRCh37]
Chr20:20p12.3		 likely benign
NM_017671.5(FERMT1):c.1993G>A (p.Asp665Asn) single nucleotide variant Kindler syndrome [RCV001143081]|not provided [RCV002557046] Chr20:6077214 [GRCh38]
Chr20:6057861 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_017671.5(FERMT1):c.1115T>G (p.Leu372Arg) single nucleotide variant Kindler syndrome [RCV001143190]|not provided [RCV001858938] Chr20:6094963 [GRCh38]
Chr20:6075610 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_017671.5(FERMT1):c.978G>A (p.Ser326=) single nucleotide variant FERMT1-related disorder [RCV003953523]|Kindler syndrome [RCV001143191]|not provided [RCV002070722] Chr20:6097013 [GRCh38]
Chr20:6077660 [GRCh37]
Chr20:20p12.3		 likely benign|uncertain significance
NM_017671.5(FERMT1):c.675C>A (p.Pro225=) single nucleotide variant FERMT1-related disorder [RCV003933179]|not provided [RCV000933592] Chr20:6110369 [GRCh38]
Chr20:6091016 [GRCh37]
Chr20:20p12.3		 benign|likely benign
NM_017671.5(FERMT1):c.746+10C>T single nucleotide variant not provided [RCV000912905] Chr20:6110288 [GRCh38]
Chr20:6090935 [GRCh37]
Chr20:20p12.3		 likely benign
NM_017671.5(FERMT1):c.533-25A>G single nucleotide variant not provided [RCV001676844] Chr20:6110536 [GRCh38]
Chr20:6091183 [GRCh37]
Chr20:20p12.3		 benign
NM_017671.5(FERMT1):c.1140-234G>A single nucleotide variant not provided [RCV001661187] Chr20:6089323 [GRCh38]
Chr20:6069970 [GRCh37]
Chr20:20p12.3		 benign
NM_017671.5(FERMT1):c.1139+76A>G single nucleotide variant not provided [RCV001609345]|not specified [RCV003487525] Chr20:6094863 [GRCh38]
Chr20:6075510 [GRCh37]
Chr20:20p12.3		 benign
NM_017671.5(FERMT1):c.1718+313C>T single nucleotide variant not provided [RCV001689053] Chr20:6083727 [GRCh38]
Chr20:6064374 [GRCh37]
Chr20:20p12.3		 benign
NM_017671.5(FERMT1):c.60T>G (p.His20Gln) single nucleotide variant not provided [RCV003327989] Chr20:6119495 [GRCh38]
Chr20:6100142 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_017671.5(FERMT1):c.1565G>A (p.Arg522Gln) single nucleotide variant not provided [RCV003106582] Chr20:6085094 [GRCh38]
Chr20:6065741 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_017671.5(FERMT1):c.1719-171G>A single nucleotide variant not provided [RCV001720641] Chr20:6079748 [GRCh38]
Chr20:6060395 [GRCh37]
Chr20:20p12.3		 benign
NM_017671.5(FERMT1):c.1089+48A>C single nucleotide variant not provided [RCV001639010]|not specified [RCV003487559] Chr20:6096854 [GRCh38]
Chr20:6077501 [GRCh37]
Chr20:20p12.3		 benign
NM_017671.5(FERMT1):c.849+331_849+332del deletion not provided [RCV001687939] Chr20:6107200..6107201 [GRCh38]
Chr20:6087847..6087848 [GRCh37]
Chr20:20p12.3		 benign
NM_017671.5(FERMT1):c.1372-213C>T single nucleotide variant not provided [RCV001620055] Chr20:6085500 [GRCh38]
Chr20:6066147 [GRCh37]
Chr20:20p12.3		 benign
NM_017671.5(FERMT1):c.1719-172C>T single nucleotide variant not provided [RCV001678448] Chr20:6079749 [GRCh38]
Chr20:6060396 [GRCh37]
Chr20:20p12.3		 benign
NM_017671.5(FERMT1):c.1718+292A>T single nucleotide variant not provided [RCV001617477] Chr20:6083748 [GRCh38]
Chr20:6064395 [GRCh37]
Chr20:20p12.3		 benign
NM_017671.5(FERMT1):c.958-51_958-46del microsatellite not provided [RCV001673700] Chr20:6097079..6097084 [GRCh38]
Chr20:6077726..6077731 [GRCh37]
Chr20:20p12.3		 benign
NM_017671.5(FERMT1):c.-18-22T>C single nucleotide variant not provided [RCV001637686]|not specified [RCV003487570] Chr20:6119594 [GRCh38]
Chr20:6100241 [GRCh37]
Chr20:20p12.3		 benign
NM_017671.5(FERMT1):c.1719-40A>G single nucleotide variant not provided [RCV001635844] Chr20:6079617 [GRCh38]
Chr20:6060264 [GRCh37]
Chr20:20p12.3		 benign
NM_017671.5(FERMT1):c.386-228C>T single nucleotide variant not provided [RCV001683994] Chr20:6112851 [GRCh38]
Chr20:6093498 [GRCh37]
Chr20:20p12.3		 benign
NM_017671.5(FERMT1):c.1366G>A (p.Asp456Asn) single nucleotide variant Kindler syndrome [RCV001141342]|not provided [RCV002559368] Chr20:6087782 [GRCh38]
Chr20:6068429 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_017671.5(FERMT1):c.811C>G (p.Arg271Gly) single nucleotide variant Kindler syndrome [RCV001143193] Chr20:6107570 [GRCh38]
Chr20:6088217 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_017671.5(FERMT1):c.*1358T>G single nucleotide variant Kindler syndrome [RCV001142979] Chr20:6075815 [GRCh38]
Chr20:6056462 [GRCh37]
Chr20:20p12.3		 benign
NM_017671.5(FERMT1):c.-109G>T single nucleotide variant Kindler syndrome [RCV001143303] Chr20:6122864 [GRCh38]
Chr20:6103511 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_017671.5(FERMT1):c.*1531G>A single nucleotide variant Kindler syndrome [RCV001141131] Chr20:6075642 [GRCh38]
Chr20:6056289 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_017671.5(FERMT1):c.*2221A>G single nucleotide variant Kindler syndrome [RCV001138132] Chr20:6074952 [GRCh38]
Chr20:6055599 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_017671.5(FERMT1):c.*1058T>G single nucleotide variant Kindler syndrome [RCV001138238] Chr20:6076115 [GRCh38]
Chr20:6056762 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_017671.5(FERMT1):c.1371+7A>G single nucleotide variant Kindler syndrome [RCV001141341] Chr20:6087770 [GRCh38]
Chr20:6068417 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_017671.4(FERMT1):c.-800C>A single nucleotide variant Kindler syndrome [RCV001141581] Chr20:6123555 [GRCh38]
Chr20:6104202 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_017671.5(FERMT1):c.*436A>G single nucleotide variant Kindler syndrome [RCV001141240] Chr20:6076737 [GRCh38]
Chr20:6057384 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_017671.4(FERMT1):c.-777C>T single nucleotide variant Kindler syndrome [RCV001141580] Chr20:6123532 [GRCh38]
Chr20:6104179 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_017671.5(FERMT1):c.*1885G>A single nucleotide variant Kindler syndrome [RCV001141128] Chr20:6075288 [GRCh38]
Chr20:6055935 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_017671.5(FERMT1):c.*205C>G single nucleotide variant Kindler syndrome [RCV001141243] Chr20:6076968 [GRCh38]
Chr20:6057615 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_017671.5(FERMT1):c.*450A>G single nucleotide variant Kindler syndrome [RCV001138664] Chr20:6076723 [GRCh38]
Chr20:6057370 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_017671.5(FERMT1):c.-18-172C>T single nucleotide variant not provided [RCV001650604] Chr20:6119744 [GRCh38]
Chr20:6100391 [GRCh37]
Chr20:20p12.3		 benign
NM_017671.5(FERMT1):c.849+108G>A single nucleotide variant not provided [RCV001649968] Chr20:6107424 [GRCh38]
Chr20:6088071 [GRCh37]
Chr20:20p12.3		 benign
NM_017671.5(FERMT1):c.1718+81G>A single nucleotide variant not provided [RCV001713844] Chr20:6083959 [GRCh38]
Chr20:6064606 [GRCh37]
Chr20:20p12.3		 benign
NM_017671.5(FERMT1):c.849+332del deletion not provided [RCV001650170] Chr20:6107200 [GRCh38]
Chr20:6087847 [GRCh37]
Chr20:20p12.3		 benign
NM_017671.5(FERMT1):c.747-290C>T single nucleotide variant not provided [RCV001616878] Chr20:6107924 [GRCh38]
Chr20:6088571 [GRCh37]
Chr20:20p12.3		 benign
NM_017671.5(FERMT1):c.152-181T>A single nucleotide variant not provided [RCV001679857] Chr20:6116225 [GRCh38]
Chr20:6096872 [GRCh37]
Chr20:20p12.3		 benign
NM_017671.5(FERMT1):c.151+103C>T single nucleotide variant not provided [RCV001691532] Chr20:6119301 [GRCh38]
Chr20:6099948 [GRCh37]
Chr20:20p12.3		 benign
NM_017671.5(FERMT1):c.-18-81del deletion not provided [RCV001724649] Chr20:6119653 [GRCh38]
Chr20:6100300 [GRCh37]
Chr20:20p12.3		 benign
NM_017671.5(FERMT1):c.1719-75A>G single nucleotide variant not provided [RCV001667576] Chr20:6079652 [GRCh38]
Chr20:6060299 [GRCh37]
Chr20:20p12.3		 benign
NM_017671.5(FERMT1):c.1594-28A>G single nucleotide variant Kindler syndrome [RCV001703130]|not provided [RCV001596012]|not specified [RCV003487500] Chr20:6084192 [GRCh38]
Chr20:6064839 [GRCh37]
Chr20:20p12.3		 benign
NM_017671.5(FERMT1):c.958-46A>G single nucleotide variant not provided [RCV001679367]|not specified [RCV003487691] Chr20:6097079 [GRCh38]
Chr20:6077726 [GRCh37]
Chr20:20p12.3		 benign
NM_017671.5(FERMT1):c.958-227G>T single nucleotide variant not provided [RCV001609111] Chr20:6097260 [GRCh38]
Chr20:6077907 [GRCh37]
Chr20:20p12.3		 benign
NM_017671.5(FERMT1):c.1139+408T>C single nucleotide variant not provided [RCV001668984] Chr20:6094531 [GRCh38]
Chr20:6075178 [GRCh37]
Chr20:20p12.3		 benign
NM_017671.5(FERMT1):c.*638C>T single nucleotide variant Kindler syndrome [RCV001138663] Chr20:6076535 [GRCh38]
Chr20:6057182 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_017671.5(FERMT1):c.713G>A (p.Arg238Gln) single nucleotide variant Kindler syndrome [RCV001136617] Chr20:6110331 [GRCh38]
Chr20:6090978 [GRCh37]
Chr20:20p12.3		 uncertain significance
GRCh37/hg19 20p13-11.1(chr20:61568-26305479)x3 copy number gain not provided [RCV001007068] Chr20:61568..26305479 [GRCh37]
Chr20:20p13-11.1		 pathogenic
NM_017671.5(FERMT1):c.*1386A>T single nucleotide variant Kindler syndrome [RCV001142978] Chr20:6075787 [GRCh38]
Chr20:6056434 [GRCh37]
Chr20:20p12.3		 benign
NM_017671.5(FERMT1):c.*1195A>G single nucleotide variant Kindler syndrome [RCV001142981]|not provided [RCV004717761] Chr20:6075978 [GRCh38]
Chr20:6056625 [GRCh37]
Chr20:20p12.3		 benign
NM_017671.5(FERMT1):c.863G>A (p.Arg288Gln) single nucleotide variant Kindler syndrome [RCV001143192]|not provided [RCV002032356] Chr20:6097618 [GRCh38]
Chr20:6078265 [GRCh37]
Chr20:20p12.3		 uncertain significance
NC_000020.11:g.(?_6094939)_(6779089_?)del deletion not provided [RCV001031848] Chr20:6075586..6759736 [GRCh37]
Chr20:20p12.3		 pathogenic
NC_000020.10:g.(?_6015110)_(6759736_?)del deletion not provided [RCV001032295] Chr20:6015110..6759736 [GRCh37]
Chr20:20p12.3		 pathogenic
NM_017671.5(FERMT1):c.-244G>A single nucleotide variant Kindler syndrome [RCV001136726] Chr20:6122999 [GRCh38]
Chr20:6103646 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_017671.5(FERMT1):c.1384G>A (p.Ala462Thr) single nucleotide variant Kindler syndrome [RCV001141339]|not provided [RCV001882430] Chr20:6085275 [GRCh38]
Chr20:6065922 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_017671.5(FERMT1):c.1383C>T (p.Tyr461=) single nucleotide variant Kindler syndrome [RCV001141340]|not provided [RCV001511231] Chr20:6085276 [GRCh38]
Chr20:6065923 [GRCh37]
Chr20:20p12.3		 benign|likely benign
NM_017671.4(FERMT1):c.-668C>A single nucleotide variant Kindler syndrome [RCV001141579] Chr20:6123423 [GRCh38]
Chr20:6104070 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_017671.5(FERMT1):c.*1137T>A single nucleotide variant Kindler syndrome [RCV001138237] Chr20:6076036 [GRCh38]
Chr20:6056683 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_017671.5(FERMT1):c.919T>G (p.Cys307Gly) single nucleotide variant Inborn genetic diseases [RCV002547528]|not provided [RCV001351417] Chr20:6097562 [GRCh38]
Chr20:6078209 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_017671.5(FERMT1):c.671C>G (p.Pro224Arg) single nucleotide variant Inborn genetic diseases [RCV002546884]|not provided [RCV001339855] Chr20:6110373 [GRCh38]
Chr20:6091020 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_017671.5(FERMT1):c.1264+363_1372-602del deletion Kindler syndrome [RCV001352938] Chr20:6085889..6088602 [GRCh38]
Chr20:6066536..6069249 [GRCh37]
Chr20:20p12.3		 pathogenic
NM_017671.5(FERMT1):c.1861-1G>A single nucleotide variant Kindler syndrome [RCV001799567] Chr20:6077347 [GRCh38]
Chr20:6057994 [GRCh37]
Chr20:20p12.3		 pathogenic
NM_017671.5(FERMT1):c.1561C>A (p.Pro521Thr) single nucleotide variant not provided [RCV001361729] Chr20:6085098 [GRCh38]
Chr20:6065745 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_017671.5(FERMT1):c.1939A>C (p.Ile647Leu) single nucleotide variant not provided [RCV001963890] Chr20:6077268 [GRCh38]
Chr20:6057915 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_017671.5(FERMT1):c.305C>T (p.Pro102Leu) single nucleotide variant not provided [RCV001370960] Chr20:6115891 [GRCh38]
Chr20:6096538 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_017671.5(FERMT1):c.341C>G (p.Ser114Ter) single nucleotide variant Kindler syndrome [RCV001352793] Chr20:6115855 [GRCh38]
Chr20:6096502 [GRCh37]
Chr20:20p12.3		 pathogenic
NM_017671.5(FERMT1):c.1264+1G>A single nucleotide variant Kindler syndrome [RCV001352794] Chr20:6088964 [GRCh38]
Chr20:6069611 [GRCh37]
Chr20:20p12.3		 pathogenic
NM_017671.5(FERMT1):c.1378C>T (p.Gln460Ter) single nucleotide variant Kindler syndrome [RCV001352796] Chr20:6085281 [GRCh38]
Chr20:6065928 [GRCh37]
Chr20:20p12.3		 pathogenic
NM_017671.5(FERMT1):c.306G>A (p.Pro102=) single nucleotide variant not provided [RCV001430193] Chr20:6115890 [GRCh38]
Chr20:6096537 [GRCh37]
Chr20:20p12.3		 likely benign
NM_017671.5(FERMT1):c.243G>A (p.Gly81=) single nucleotide variant not provided [RCV001488580] Chr20:6115953 [GRCh38]
Chr20:6096600 [GRCh37]
Chr20:20p12.3		 likely benign
NM_017671.5(FERMT1):c.1861-217A>G single nucleotide variant not provided [RCV001617582] Chr20:6077563 [GRCh38]
Chr20:6058210 [GRCh37]
Chr20:20p12.3		 benign
NM_017671.5(FERMT1):c.849+219G>A single nucleotide variant not provided [RCV001673267] Chr20:6107313 [GRCh38]
Chr20:6087960 [GRCh37]
Chr20:20p12.3		 benign
NM_017671.5(FERMT1):c.1371+18_1371+19del deletion not provided [RCV001520340] Chr20:6087758..6087759 [GRCh38]
Chr20:6068405..6068406 [GRCh37]
Chr20:20p12.3		 benign
NM_017671.5(FERMT1):c.1718+267A>T single nucleotide variant not provided [RCV001650733] Chr20:6083773 [GRCh38]
Chr20:6064420 [GRCh37]
Chr20:20p12.3		 benign
NM_017671.5(FERMT1):c.1265-333A>G single nucleotide variant not provided [RCV001617833] Chr20:6088216 [GRCh38]
Chr20:6068863 [GRCh37]
Chr20:20p12.3		 benign
NM_017671.5(FERMT1):c.1089+119del deletion not provided [RCV001536854] Chr20:6096783 [GRCh38]
Chr20:6077430 [GRCh37]
Chr20:20p12.3		 benign
NM_017671.5(FERMT1):c.1861-49del deletion not provided [RCV001650203]|not specified [RCV003487616] Chr20:6077395 [GRCh38]
Chr20:6058042 [GRCh37]
Chr20:20p12.3		 benign
NM_017671.5(FERMT1):c.1139+498T>C single nucleotide variant not provided [RCV001714091] Chr20:6094441 [GRCh38]
Chr20:6075088 [GRCh37]
Chr20:20p12.3		 benign
NM_017671.5(FERMT1):c.151+20C>T single nucleotide variant not provided [RCV001512450] Chr20:6119384 [GRCh38]
Chr20:6100031 [GRCh37]
Chr20:20p12.3		 benign
NM_017671.5(FERMT1):c.1090-273T>C single nucleotide variant not provided [RCV001650441] Chr20:6095261 [GRCh38]
Chr20:6075908 [GRCh37]
Chr20:20p12.3		 benign
NM_017671.5(FERMT1):c.1139+13T>C single nucleotide variant not provided [RCV001513073] Chr20:6094926 [GRCh38]
Chr20:6075573 [GRCh37]
Chr20:20p12.3		 benign
NM_017671.5(FERMT1):c.849+231G>A single nucleotide variant not provided [RCV001675087] Chr20:6107301 [GRCh38]
Chr20:6087948 [GRCh37]
Chr20:20p12.3		 benign
NM_017671.5(FERMT1):c.533-17A>C single nucleotide variant not provided [RCV001518777] Chr20:6110528 [GRCh38]
Chr20:6091175 [GRCh37]
Chr20:20p12.3		 benign
NM_017671.5(FERMT1):c.1372-11G>C single nucleotide variant not provided [RCV001467468] Chr20:6085298 [GRCh38]
Chr20:6065945 [GRCh37]
Chr20:20p12.3		 likely benign
NM_017671.5(FERMT1):c.994C>T (p.Gln332Ter) single nucleotide variant Kindler syndrome [RCV001526461] Chr20:6096997 [GRCh38]
Chr20:6077644 [GRCh37]
Chr20:20p12.3		 pathogenic
NM_017671.5(FERMT1):c.-18-148A>G single nucleotide variant not provided [RCV001538878] Chr20:6119720 [GRCh38]
Chr20:6100367 [GRCh37]
Chr20:20p12.3		 benign
NM_017671.5(FERMT1):c.1089+118_1089+119del deletion not provided [RCV001779585] Chr20:6096783..6096784 [GRCh38]
Chr20:6077430..6077431 [GRCh37]
Chr20:20p12.3		 likely benign
NM_017671.5(FERMT1):c.328C>T (p.Arg110Ter) single nucleotide variant Kindler syndrome [RCV001783270]|not provided [RCV001885161] Chr20:6115868 [GRCh38]
Chr20:6096515 [GRCh37]
Chr20:20p12.3		 pathogenic|not provided
NM_017671.5(FERMT1):c.1861-114T>A single nucleotide variant not provided [RCV001774812] Chr20:6077460 [GRCh38]
Chr20:6058107 [GRCh37]
Chr20:20p12.3		 benign
GRCh37/hg19 20p13-12.2(chr20:3178539-11848383) copy number loss 20p12.3 microdeletion syndrome [RCV002280726] Chr20:3178539..11848383 [GRCh37]
Chr20:20p13-12.2		 pathogenic
NM_017671.5(FERMT1):c.1718+2T>C single nucleotide variant Kindler syndrome [RCV001808218]|not provided [RCV002541468] Chr20:6084038 [GRCh38]
Chr20:6064685 [GRCh37]
Chr20:20p12.3		 pathogenic|conflicting interpretations of pathogenicity
NM_017671.5(FERMT1):c.676C>T (p.Gln226Ter) single nucleotide variant Kindler syndrome [RCV001818101] Chr20:6110368 [GRCh38]
Chr20:6091015 [GRCh37]
Chr20:20p12.3		 not provided
NM_017671.5(FERMT1):c.456dup (p.Asp153fs) duplication Kindler syndrome [RCV001818102] Chr20:6112552..6112553 [GRCh38]
Chr20:6093199..6093200 [GRCh37]
Chr20:20p12.3		 not provided
NM_017671.5(FERMT1):c.49C>T (p.Arg17Cys) single nucleotide variant not provided [RCV001863785] Chr20:6119506 [GRCh38]
Chr20:6100153 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_017671.5(FERMT1):c.1076C>T (p.Ala359Val) single nucleotide variant not provided [RCV001864662] Chr20:6096915 [GRCh38]
Chr20:6077562 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_017671.5(FERMT1):c.166T>A (p.Trp56Arg) single nucleotide variant Inborn genetic diseases [RCV002551672]|not provided [RCV001874719] Chr20:6116030 [GRCh38]
Chr20:6096677 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_017671.5(FERMT1):c.140T>C (p.Val47Ala) single nucleotide variant not provided [RCV002023340] Chr20:6119415 [GRCh38]
Chr20:6100062 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_017671.5(FERMT1):c.1353G>A (p.Met451Ile) single nucleotide variant not provided [RCV001948117] Chr20:6087795 [GRCh38]
Chr20:6068442 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_017671.5(FERMT1):c.1603C>T (p.Arg535Trp) single nucleotide variant not provided [RCV001929188] Chr20:6084155 [GRCh38]
Chr20:6064802 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_017671.5(FERMT1):c.1661G>A (p.Arg554Gln) single nucleotide variant Inborn genetic diseases [RCV002551018]|not provided [RCV001894519] Chr20:6084097 [GRCh38]
Chr20:6064744 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_017671.5(FERMT1):c.1154T>C (p.Leu385Pro) single nucleotide variant not provided [RCV002024657] Chr20:6089075 [GRCh38]
Chr20:6069722 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_017671.5(FERMT1):c.569T>C (p.Ile190Thr) single nucleotide variant not provided [RCV001987560] Chr20:6110475 [GRCh38]
Chr20:6091122 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_017671.5(FERMT1):c.1562C>T (p.Pro521Leu) single nucleotide variant not provided [RCV001965426] Chr20:6085097 [GRCh38]
Chr20:6065744 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_017671.5(FERMT1):c.1397C>T (p.Ala466Val) single nucleotide variant not provided [RCV001891654] Chr20:6085262 [GRCh38]
Chr20:6065909 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_017671.5(FERMT1):c.22A>G (p.Thr8Ala) single nucleotide variant not provided [RCV001947397] Chr20:6119533 [GRCh38]
Chr20:6100180 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_017671.5(FERMT1):c.1564C>T (p.Arg522Trp) single nucleotide variant Inborn genetic diseases [RCV002560505]|not provided [RCV001926880] Chr20:6085095 [GRCh38]
Chr20:6065742 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_017671.5(FERMT1):c.620G>A (p.Ser207Asn) single nucleotide variant not provided [RCV001909593] Chr20:6110424 [GRCh38]
Chr20:6091071 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_017671.5(FERMT1):c.292C>T (p.Arg98Cys) single nucleotide variant not provided [RCV001910065] Chr20:6115904 [GRCh38]
Chr20:6096551 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_017671.5(FERMT1):c.764G>A (p.Arg255His) single nucleotide variant not provided [RCV002007960] Chr20:6107617 [GRCh38]
Chr20:6088264 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_017671.5:c.892_893insALU insertion Kindler syndrome [RCV001837170]   pathogenic
NM_017671.5(FERMT1):c.1525G>A (p.Glu509Lys) single nucleotide variant not provided [RCV001947632] Chr20:6085134 [GRCh38]
Chr20:6065781 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_017671.5(FERMT1):c.1037C>T (p.Ala346Val) single nucleotide variant not provided [RCV001886591] Chr20:6096954 [GRCh38]
Chr20:6077601 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_017671.5(FERMT1):c.1183A>T (p.Ile395Phe) single nucleotide variant not provided [RCV001905615] Chr20:6089046 [GRCh38]
Chr20:6069693 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_017671.5(FERMT1):c.1270G>A (p.Glu424Lys) single nucleotide variant not provided [RCV001982412] Chr20:6087878 [GRCh38]
Chr20:6068525 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_017671.5(FERMT1):c.1008C>T (p.Gly336=) single nucleotide variant not provided [RCV001961914] Chr20:6096983 [GRCh38]
Chr20:6077630 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_017671.5(FERMT1):c.288G>A (p.Met96Ile) single nucleotide variant not provided [RCV002036943] Chr20:6115908 [GRCh38]
Chr20:6096555 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_017671.5(FERMT1):c.1719-1G>A single nucleotide variant not provided [RCV002013205] Chr20:6079578 [GRCh38]
Chr20:6060225 [GRCh37]
Chr20:20p12.3		 likely pathogenic
NM_017671.5(FERMT1):c.1967G>A (p.Arg656His) single nucleotide variant not provided [RCV001899613] Chr20:6077240 [GRCh38]
Chr20:6057887 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_017671.5(FERMT1):c.678dup (p.Ser227fs) duplication not provided [RCV001999970] Chr20:6110365..6110366 [GRCh38]
Chr20:6091012..6091013 [GRCh37]
Chr20:20p12.3		 pathogenic
NM_017671.5(FERMT1):c.41T>G (p.Leu14Arg) single nucleotide variant not provided [RCV002012200] Chr20:6119514 [GRCh38]
Chr20:6100161 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_017671.5(FERMT1):c.860T>C (p.Val287Ala) single nucleotide variant Inborn genetic diseases [RCV002555297]|not provided [RCV001906457] Chr20:6097621 [GRCh38]
Chr20:6078268 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_017671.5(FERMT1):c.619A>C (p.Ser207Arg) single nucleotide variant not provided [RCV002013807] Chr20:6110425 [GRCh38]
Chr20:6091072 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_017671.5(FERMT1):c.1792G>A (p.Gly598Arg) single nucleotide variant Kindler syndrome [RCV004720328]|not provided [RCV001877113] Chr20:6079504 [GRCh38]
Chr20:6060151 [GRCh37]
Chr20:20p12.3		 likely benign|uncertain significance
NM_017671.5(FERMT1):c.1604G>A (p.Arg535Gln) single nucleotide variant not provided [RCV001955214] Chr20:6084154 [GRCh38]
Chr20:6064801 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_017671.5(FERMT1):c.203G>T (p.Cys68Phe) single nucleotide variant not provided [RCV002038757] Chr20:6115993 [GRCh38]
Chr20:6096640 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_017671.5(FERMT1):c.1429A>G (p.Met477Val) single nucleotide variant not provided [RCV001878513] Chr20:6085230 [GRCh38]
Chr20:6065877 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_017671.5(FERMT1):c.747-3T>C single nucleotide variant not provided [RCV001935007] Chr20:6107637 [GRCh38]
Chr20:6088284 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_017671.5(FERMT1):c.323G>C (p.Arg108Thr) single nucleotide variant not provided [RCV002046831] Chr20:6115873 [GRCh38]
Chr20:6096520 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_017671.5(FERMT1):c.1863G>A (p.Val621=) single nucleotide variant not provided [RCV001931140] Chr20:6077344 [GRCh38]
Chr20:6057991 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_017671.5(FERMT1):c.1596G>A (p.Leu532=) single nucleotide variant not provided [RCV001989763] Chr20:6084162 [GRCh38]
Chr20:6064809 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_017671.5(FERMT1):c.1594-19G>A single nucleotide variant not provided [RCV002015613] Chr20:6084183 [GRCh38]
Chr20:6064830 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_017671.5(FERMT1):c.1372-3C>A single nucleotide variant not provided [RCV001937553] Chr20:6085290 [GRCh38]
Chr20:6065937 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_017671.5(FERMT1):c.640C>G (p.Gln214Glu) single nucleotide variant Inborn genetic diseases [RCV002573500]|not provided [RCV001976579] Chr20:6110404 [GRCh38]
Chr20:6091051 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_017671.5(FERMT1):c.1660C>T (p.Arg554Trp) single nucleotide variant Inborn genetic diseases [RCV002657654]|not provided [RCV002015669] Chr20:6084098 [GRCh38]
Chr20:6064745 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_017671.5(FERMT1):c.958T>C (p.Tyr320His) single nucleotide variant not provided [RCV002048295] Chr20:6097033 [GRCh38]
Chr20:6077680 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_017671.5(FERMT1):c.957+6G>A single nucleotide variant not provided [RCV001971929] Chr20:6097518 [GRCh38]
Chr20:6078165 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_017671.5(FERMT1):c.7T>C (p.Ser3Pro) single nucleotide variant not provided [RCV001991603] Chr20:6119548 [GRCh38]
Chr20:6100195 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_017671.5(FERMT1):c.1372-8T>G single nucleotide variant not provided [RCV001921469] Chr20:6085295 [GRCh38]
Chr20:6065942 [GRCh37]
Chr20:20p12.3		 likely benign|uncertain significance
NM_017671.5(FERMT1):c.1982A>G (p.Asn661Ser) single nucleotide variant not provided [RCV001902304] Chr20:6077225 [GRCh38]
Chr20:6057872 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_017671.5(FERMT1):c.422C>T (p.Pro141Leu) single nucleotide variant not provided [RCV001898773] Chr20:6112587 [GRCh38]
Chr20:6093234 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_017671.5(FERMT1):c.433T>G (p.Tyr145Asp) single nucleotide variant not provided [RCV001877237] Chr20:6112576 [GRCh38]
Chr20:6093223 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_017671.5(FERMT1):c.524G>A (p.Gly175Asp) single nucleotide variant not provided [RCV001921066] Chr20:6112485 [GRCh38]
Chr20:6093132 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_017671.5(FERMT1):c.784A>G (p.Ile262Val) single nucleotide variant Inborn genetic diseases [RCV003167425]|not provided [RCV001958070] Chr20:6107597 [GRCh38]
Chr20:6088244 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_017671.5(FERMT1):c.831C>G (p.Phe277Leu) single nucleotide variant not provided [RCV001981792] Chr20:6107550 [GRCh38]
Chr20:6088197 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_017671.5(FERMT1):c.700A>G (p.Met234Val) single nucleotide variant not provided [RCV001916634] Chr20:6110344 [GRCh38]
Chr20:6090991 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_017671.5(FERMT1):c.227C>T (p.Thr76Ile) single nucleotide variant not provided [RCV001877791] Chr20:6115969 [GRCh38]
Chr20:6096616 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_017671.5(FERMT1):c.1277del (p.Val426fs) deletion not provided [RCV001932799] Chr20:6087871 [GRCh38]
Chr20:6068518 [GRCh37]
Chr20:20p12.3		 pathogenic
NM_017671.5(FERMT1):c.1907T>C (p.Leu636Pro) single nucleotide variant not provided [RCV002013357] Chr20:6077300 [GRCh38]
Chr20:6057947 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_017671.5(FERMT1):c.1015G>A (p.Glu339Lys) single nucleotide variant not provided [RCV002045981] Chr20:6096976 [GRCh38]
Chr20:6077623 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_017671.5(FERMT1):c.1593+4C>T single nucleotide variant not provided [RCV001924131] Chr20:6085062 [GRCh38]
Chr20:6065709 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_017671.5(FERMT1):c.773T>C (p.Met258Thr) single nucleotide variant not provided [RCV001980312] Chr20:6107608 [GRCh38]
Chr20:6088255 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_017671.5(FERMT1):c.1262G>C (p.Arg421Thr) single nucleotide variant not provided [RCV001979202] Chr20:6088967 [GRCh38]
Chr20:6069614 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_017671.5(FERMT1):c.50G>A (p.Arg17His) single nucleotide variant FERMT1-related disorder [RCV003418326]|not provided [RCV002035932] Chr20:6119505 [GRCh38]
Chr20:6100152 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_017671.5(FERMT1):c.371T>C (p.Ile124Thr) single nucleotide variant not provided [RCV002009958] Chr20:6115825 [GRCh38]
Chr20:6096472 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_017671.5(FERMT1):c.1591C>G (p.Gln531Glu) single nucleotide variant not provided [RCV001878464] Chr20:6085068 [GRCh38]
Chr20:6065715 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_017671.5(FERMT1):c.1388A>G (p.Gln463Arg) single nucleotide variant not provided [RCV001924932] Chr20:6085271 [GRCh38]
Chr20:6065918 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_017671.5(FERMT1):c.299G>A (p.Arg100His) single nucleotide variant not provided [RCV001916272] Chr20:6115897 [GRCh38]
Chr20:6096544 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_017671.5(FERMT1):c.637G>A (p.Glu213Lys) single nucleotide variant not provided [RCV001997029] Chr20:6110407 [GRCh38]
Chr20:6091054 [GRCh37]
Chr20:20p12.3		 likely benign|uncertain significance
NM_017671.5(FERMT1):c.1225C>A (p.Leu409Ile) single nucleotide variant not provided [RCV001905145] Chr20:6089004 [GRCh38]
Chr20:6069651 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_017671.5(FERMT1):c.85G>A (p.Val29Ile) single nucleotide variant Inborn genetic diseases [RCV002569204]|not provided [RCV001961211] Chr20:6119470 [GRCh38]
Chr20:6100117 [GRCh37]
Chr20:20p12.3		 likely benign|uncertain significance
NM_017671.5(FERMT1):c.919T>C (p.Cys307Arg) single nucleotide variant not provided [RCV001991729] Chr20:6097562 [GRCh38]
Chr20:6078209 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_017671.5(FERMT1):c.255T>A (p.Asp85Glu) single nucleotide variant not provided [RCV002016376] Chr20:6115941 [GRCh38]
Chr20:6096588 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_017671.5(FERMT1):c.747-20C>G single nucleotide variant not provided [RCV001900963] Chr20:6107654 [GRCh38]
Chr20:6088301 [GRCh37]
Chr20:20p12.3		 likely benign|uncertain significance
NM_017671.5(FERMT1):c.747-20C>T single nucleotide variant not provided [RCV002086000] Chr20:6107654 [GRCh38]
Chr20:6088301 [GRCh37]
Chr20:20p12.3		 likely benign
NM_017671.5(FERMT1):c.1077G>A (p.Ala359=) single nucleotide variant FERMT1-related disorder [RCV003913593]|not provided [RCV002207579] Chr20:6096914 [GRCh38]
Chr20:6077561 [GRCh37]
Chr20:20p12.3		 likely benign
NM_017671.5(FERMT1):c.213G>A (p.Leu71=) single nucleotide variant not provided [RCV002089424] Chr20:6115983 [GRCh38]
Chr20:6096630 [GRCh37]
Chr20:20p12.3		 likely benign
NM_017671.5(FERMT1):c.1372-16C>T single nucleotide variant not provided [RCV002128692] Chr20:6085303 [GRCh38]
Chr20:6065950 [GRCh37]
Chr20:20p12.3		 likely benign
NM_017671.5(FERMT1):c.386-20T>A single nucleotide variant not provided [RCV002192560] Chr20:6112643 [GRCh38]
Chr20:6093290 [GRCh37]
Chr20:20p12.3		 likely benign
NM_017671.5(FERMT1):c.1620C>T (p.His540=) single nucleotide variant not provided [RCV002089009] Chr20:6084138 [GRCh38]
Chr20:6064785 [GRCh37]
Chr20:20p12.3		 likely benign
NM_017671.5(FERMT1):c.882G>A (p.Glu294=) single nucleotide variant FERMT1-related disorder [RCV003958678]|not provided [RCV002107669] Chr20:6097599 [GRCh38]
Chr20:6078246 [GRCh37]
Chr20:20p12.3		 likely benign
NM_017671.5(FERMT1):c.72G>A (p.Glu24=) single nucleotide variant not provided [RCV002188038] Chr20:6119483 [GRCh38]
Chr20:6100130 [GRCh37]
Chr20:20p12.3		 likely benign
NM_017671.5(FERMT1):c.1593+5T>C single nucleotide variant not provided [RCV002129418] Chr20:6085061 [GRCh38]
Chr20:6065708 [GRCh37]
Chr20:20p12.3		 benign
NM_017671.5(FERMT1):c.1265-10T>C single nucleotide variant not provided [RCV002168061] Chr20:6087893 [GRCh38]
Chr20:6068540 [GRCh37]
Chr20:20p12.3		 likely benign
NM_017671.5(FERMT1):c.1038G>A (p.Ala346=) single nucleotide variant not provided [RCV002204927] Chr20:6096953 [GRCh38]
Chr20:6077600 [GRCh37]
Chr20:20p12.3		 likely benign
NM_017671.5(FERMT1):c.898A>G (p.Ile300Val) single nucleotide variant not provided [RCV002210037] Chr20:6097583 [GRCh38]
Chr20:6078230 [GRCh37]
Chr20:20p12.3		 benign
NM_017671.5(FERMT1):c.423G>A (p.Pro141=) single nucleotide variant not provided [RCV002106626] Chr20:6112586 [GRCh38]
Chr20:6093233 [GRCh37]
Chr20:20p12.3		 likely benign
NM_017671.5(FERMT1):c.1264+8T>A single nucleotide variant not provided [RCV002169471] Chr20:6088957 [GRCh38]
Chr20:6069604 [GRCh37]
Chr20:20p12.3		 likely benign
NM_017671.5(FERMT1):c.852T>C (p.Tyr284=) single nucleotide variant not provided [RCV002174197] Chr20:6097629 [GRCh38]
Chr20:6078276 [GRCh37]
Chr20:20p12.3		 likely benign
NM_017671.5(FERMT1):c.1265-16G>C single nucleotide variant not provided [RCV002152980] Chr20:6087899 [GRCh38]
Chr20:6068546 [GRCh37]
Chr20:20p12.3		 likely benign
NM_017671.5(FERMT1):c.495A>C (p.Leu165=) single nucleotide variant not provided [RCV002209710] Chr20:6112514 [GRCh38]
Chr20:6093161 [GRCh37]
Chr20:20p12.3		 likely benign
NM_017671.5(FERMT1):c.84C>T (p.Asp28=) single nucleotide variant not provided [RCV002170656] Chr20:6119471 [GRCh38]
Chr20:6100118 [GRCh37]
Chr20:20p12.3		 likely benign
NM_017671.5(FERMT1):c.1167C>T (p.Phe389=) single nucleotide variant not provided [RCV002194340] Chr20:6089062 [GRCh38]
Chr20:6069709 [GRCh37]
Chr20:20p12.3		 likely benign
NM_017671.5(FERMT1):c.459C>T (p.Asp153=) single nucleotide variant not provided [RCV002115283] Chr20:6112550 [GRCh38]
Chr20:6093197 [GRCh37]
Chr20:20p12.3		 likely benign
NM_017671.5(FERMT1):c.1140-16A>G single nucleotide variant not provided [RCV002192623] Chr20:6089105 [GRCh38]
Chr20:6069752 [GRCh37]
Chr20:20p12.3		 likely benign
NM_017671.5(FERMT1):c.756C>T (p.Asp252=) single nucleotide variant not provided [RCV002213403] Chr20:6107625 [GRCh38]
Chr20:6088272 [GRCh37]
Chr20:20p12.3		 likely benign
NM_017671.5(FERMT1):c.1617G>A (p.Ala539=) single nucleotide variant not provided [RCV002152162] Chr20:6084141 [GRCh38]
Chr20:6064788 [GRCh37]
Chr20:20p12.3		 likely benign
NM_017671.5(FERMT1):c.39G>A (p.Glu13=) single nucleotide variant not provided [RCV002194137] Chr20:6119516 [GRCh38]
Chr20:6100163 [GRCh37]
Chr20:20p12.3		 likely benign
NM_017671.5(FERMT1):c.385+12G>A single nucleotide variant not provided [RCV002170842] Chr20:6115799 [GRCh38]
Chr20:6096446 [GRCh37]
Chr20:20p12.3		 likely benign
NM_017671.5(FERMT1):c.1497C>T (p.Asn499=) single nucleotide variant not provided [RCV002195064] Chr20:6085162 [GRCh38]
Chr20:6065809 [GRCh37]
Chr20:20p12.3		 likely benign
NM_017671.5(FERMT1):c.657C>T (p.Leu219=) single nucleotide variant not provided [RCV002137269] Chr20:6110387 [GRCh38]
Chr20:6091034 [GRCh37]
Chr20:20p12.3		 likely benign
NM_017671.5(FERMT1):c.888C>T (p.Ala296=) single nucleotide variant not provided [RCV002118068] Chr20:6097593 [GRCh38]
Chr20:6078240 [GRCh37]
Chr20:20p12.3		 benign
NM_017671.5(FERMT1):c.1762A>G (p.Asn588Asp) single nucleotide variant FERMT1-related disorder [RCV003971101]|not provided [RCV002136344] Chr20:6079534 [GRCh38]
Chr20:6060181 [GRCh37]
Chr20:20p12.3		 benign|likely benign
NM_017671.5(FERMT1):c.958-18C>T single nucleotide variant not provided [RCV002140350] Chr20:6097051 [GRCh38]
Chr20:6077698 [GRCh37]
Chr20:20p12.3		 likely benign
NM_017671.5(FERMT1):c.1467C>T (p.Ile489=) single nucleotide variant not provided [RCV002140352] Chr20:6085192 [GRCh38]
Chr20:6065839 [GRCh37]
Chr20:20p12.3		 likely benign
NM_017671.5(FERMT1):c.746+11G>A single nucleotide variant not provided [RCV002099435] Chr20:6110287 [GRCh38]
Chr20:6090934 [GRCh37]
Chr20:20p12.3		 likely benign
NM_017671.5(FERMT1):c.1035G>A (p.Ala345=) single nucleotide variant FERMT1-related disorder [RCV004756376]|not provided [RCV002161622] Chr20:6096956 [GRCh38]
Chr20:6077603 [GRCh37]
Chr20:20p12.3		 benign|likely benign
NM_017671.5(FERMT1):c.414G>A (p.Leu138=) single nucleotide variant not provided [RCV002220725] Chr20:6112595 [GRCh38]
Chr20:6093242 [GRCh37]
Chr20:20p12.3		 likely benign
NM_017671.5(FERMT1):c.1335C>T (p.Ala445=) single nucleotide variant not provided [RCV002155018] Chr20:6087813 [GRCh38]
Chr20:6068460 [GRCh37]
Chr20:20p12.3		 likely benign
NM_017671.5(FERMT1):c.958-17G>A single nucleotide variant not provided [RCV002098987] Chr20:6097050 [GRCh38]
Chr20:6077697 [GRCh37]
Chr20:20p12.3		 likely benign
NM_017671.5(FERMT1):c.219C>T (p.Thr73=) single nucleotide variant not provided [RCV002099178] Chr20:6115977 [GRCh38]
Chr20:6096624 [GRCh37]
Chr20:20p12.3		 likely benign
NM_017671.5(FERMT1):c.636G>A (p.Thr212=) single nucleotide variant not provided [RCV002199070] Chr20:6110408 [GRCh38]
Chr20:6091055 [GRCh37]
Chr20:20p12.3		 likely benign
NM_017671.5(FERMT1):c.1718+9A>G single nucleotide variant not provided [RCV002103743] Chr20:6084031 [GRCh38]
Chr20:6064678 [GRCh37]
Chr20:20p12.3		 likely benign
NM_017671.5(FERMT1):c.151+12T>A single nucleotide variant not provided [RCV002200395] Chr20:6119392 [GRCh38]
Chr20:6100039 [GRCh37]
Chr20:20p12.3		 likely benign
NM_017671.5(FERMT1):c.386-9T>C single nucleotide variant not provided [RCV002136400] Chr20:6112632 [GRCh38]
Chr20:6093279 [GRCh37]
Chr20:20p12.3		 likely benign
NM_017671.5(FERMT1):c.1818C>T (p.Phe606=) single nucleotide variant not provided [RCV002081969] Chr20:6079478 [GRCh38]
Chr20:6060125 [GRCh37]
Chr20:20p12.3		 likely benign
NM_017671.5(FERMT1):c.1592A>G (p.Gln531Arg) single nucleotide variant not provided [RCV002156703] Chr20:6085067 [GRCh38]
Chr20:6065714 [GRCh37]
Chr20:20p12.3		 benign
NC_000020.10:g.(?_1959939)_(6760201_?)dup duplication Huntington disease-like 1 [RCV003110989]|Pigmentary pallidal degeneration [RCV003122285] Chr20:1959939..6760201 [GRCh37]
Chr20:20p13-12.3		 uncertain significance
NM_017671.5(FERMT1):c.676del (p.Gln226fs) deletion not provided [RCV003112420] Chr20:6110368 [GRCh38]
Chr20:6091015 [GRCh37]
Chr20:20p12.3		 pathogenic
NC_000020.10:g.(?_6090925)_(6091178_?)del deletion not provided [RCV003119783] Chr20:6090925..6091178 [GRCh37]
Chr20:20p12.3		 pathogenic
NM_017671.5(FERMT1):c.35G>A (p.Trp12Ter) single nucleotide variant Kindler syndrome [RCV003154181] Chr20:6119520 [GRCh38]
Chr20:6100167 [GRCh37]
Chr20:20p12.3		 pathogenic
GRCh37/hg19 20p12.3(chr20:6013642-6128223)x1 copy number loss not provided [RCV002474639] Chr20:6013642..6128223 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_017671.5(FERMT1):c.1700T>C (p.Leu567Pro) single nucleotide variant not provided [RCV002303124] Chr20:6084058 [GRCh38]
Chr20:6064705 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_017671.5(FERMT1):c.1790C>T (p.Thr597Ile) single nucleotide variant not provided [RCV002304388] Chr20:6079506 [GRCh38]
Chr20:6060153 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_017671.5(FERMT1):c.1037C>A (p.Ala346Glu) single nucleotide variant not provided [RCV002301431] Chr20:6096954 [GRCh38]
Chr20:6077601 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_017671.5(FERMT1):c.1809A>T (p.Thr603=) single nucleotide variant not provided [RCV002731162] Chr20:6079487 [GRCh38]
Chr20:6060134 [GRCh37]
Chr20:20p12.3		 likely benign
NM_017671.5(FERMT1):c.385+1G>T single nucleotide variant not provided [RCV002838483] Chr20:6115810 [GRCh38]
Chr20:6096457 [GRCh37]
Chr20:20p12.3		 pathogenic
NM_017671.5(FERMT1):c.138A>G (p.Leu46=) single nucleotide variant not provided [RCV003034509] Chr20:6119417 [GRCh38]
Chr20:6100064 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_017671.5(FERMT1):c.788A>G (p.Gln263Arg) single nucleotide variant not provided [RCV003034470] Chr20:6107593 [GRCh38]
Chr20:6088240 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_017671.5(FERMT1):c.1187T>G (p.Phe396Cys) single nucleotide variant not provided [RCV002617068] Chr20:6089042 [GRCh38]
Chr20:6069689 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_017671.5(FERMT1):c.1826T>C (p.Ile609Thr) single nucleotide variant not provided [RCV002750727] Chr20:6079470 [GRCh38]
Chr20:6060117 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_017671.5(FERMT1):c.819A>G (p.Lys273=) single nucleotide variant not provided [RCV002993894] Chr20:6107562 [GRCh38]
Chr20:6088209 [GRCh37]
Chr20:20p12.3		 likely benign
NM_017671.5(FERMT1):c.1885G>A (p.Val629Ile) single nucleotide variant not provided [RCV002731370] Chr20:6077322 [GRCh38]
Chr20:6057969 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_017671.5(FERMT1):c.591A>T (p.Thr197=) single nucleotide variant not provided [RCV002617593] Chr20:6110453 [GRCh38]
Chr20:6091100 [GRCh37]
Chr20:20p12.3		 likely benign
NM_017671.5(FERMT1):c.1135T>C (p.Phe379Leu) single nucleotide variant not provided [RCV002776402] Chr20:6094943 [GRCh38]
Chr20:6075590 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_017671.5(FERMT1):c.676C>A (p.Gln226Lys) single nucleotide variant Inborn genetic diseases [RCV002865016] Chr20:6110368 [GRCh38]
Chr20:6091015 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_017671.5(FERMT1):c.443A>G (p.Lys148Arg) single nucleotide variant not provided [RCV002639908] Chr20:6112566 [GRCh38]
Chr20:6093213 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_017671.5(FERMT1):c.93G>A (p.Leu31=) single nucleotide variant not provided [RCV002866516] Chr20:6119462 [GRCh38]
Chr20:6100109 [GRCh37]
Chr20:20p12.3		 likely benign
NM_017671.5(FERMT1):c.441GAA[3] (p.Lys152del) microsatellite not provided [RCV002800482] Chr20:6112557..6112559 [GRCh38]
Chr20:6093204..6093206 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_017671.5(FERMT1):c.829T>C (p.Phe277Leu) single nucleotide variant not provided [RCV002889668] Chr20:6107552 [GRCh38]
Chr20:6088199 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_017671.5(FERMT1):c.1302A>G (p.Arg434=) single nucleotide variant not provided [RCV003054665] Chr20:6087846 [GRCh38]
Chr20:6068493 [GRCh37]
Chr20:20p12.3		 likely benign
NM_017671.5(FERMT1):c.977C>T (p.Ser326Leu) single nucleotide variant Inborn genetic diseases [RCV002784921]|not provided [RCV003565618] Chr20:6097014 [GRCh38]
Chr20:6077661 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_017671.5(FERMT1):c.712C>G (p.Arg238Gly) single nucleotide variant not provided [RCV002736597] Chr20:6110332 [GRCh38]
Chr20:6090979 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_017671.5(FERMT1):c.491T>C (p.Ile164Thr) single nucleotide variant Inborn genetic diseases [RCV002950160] Chr20:6112518 [GRCh38]
Chr20:6093165 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_017671.5(FERMT1):c.1372-6C>A single nucleotide variant not provided [RCV003019602] Chr20:6085293 [GRCh38]
Chr20:6065940 [GRCh37]
Chr20:20p12.3		 likely benign
NM_017671.5(FERMT1):c.958-3T>C single nucleotide variant not provided [RCV002975935] Chr20:6097036 [GRCh38]
Chr20:6077683 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_017671.5(FERMT1):c.1404C>T (p.Cys468=) single nucleotide variant not provided [RCV002998986] Chr20:6085255 [GRCh38]
Chr20:6065902 [GRCh37]
Chr20:20p12.3		 likely benign
NM_017671.5(FERMT1):c.671C>A (p.Pro224His) single nucleotide variant not provided [RCV002780388] Chr20:6110373 [GRCh38]
Chr20:6091020 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_017671.5(FERMT1):c.94A>G (p.Arg32Gly) single nucleotide variant not provided [RCV002785544] Chr20:6119461 [GRCh38]
Chr20:6100108 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_017671.5(FERMT1):c.746+12G>T single nucleotide variant not provided [RCV003021079] Chr20:6110286 [GRCh38]
Chr20:6090933 [GRCh37]
Chr20:20p12.3		 likely benign
NM_017671.5(FERMT1):c.815T>C (p.Phe272Ser) single nucleotide variant not provided [RCV002867994] Chr20:6107566 [GRCh38]
Chr20:6088213 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_017671.5(FERMT1):c.695C>A (p.Ala232Glu) single nucleotide variant not provided [RCV002592191] Chr20:6110349 [GRCh38]
Chr20:6090996 [GRCh37]
Chr20:20p12.3		 benign
NM_017671.5(FERMT1):c.217A>T (p.Thr73Ser) single nucleotide variant Inborn genetic diseases [RCV002844215] Chr20:6115979 [GRCh38]
Chr20:6096626 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_017671.5(FERMT1):c.1408T>C (p.Leu470=) single nucleotide variant not provided [RCV002927649] Chr20:6085251 [GRCh38]
Chr20:6065898 [GRCh37]
Chr20:20p12.3		 likely benign
NM_017671.5(FERMT1):c.144A>G (p.Glu48=) single nucleotide variant not provided [RCV002871112] Chr20:6119411 [GRCh38]
Chr20:6100058 [GRCh37]
Chr20:20p12.3		 likely benign
NM_017671.5(FERMT1):c.746+15C>T single nucleotide variant not provided [RCV002846923] Chr20:6110283 [GRCh38]
Chr20:6090930 [GRCh37]
Chr20:20p12.3		 likely benign
NM_017671.5(FERMT1):c.658G>A (p.Ala220Thr) single nucleotide variant not provided [RCV003079238] Chr20:6110386 [GRCh38]
Chr20:6091033 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_017671.5(FERMT1):c.1968C>T (p.Arg656=) single nucleotide variant not provided [RCV002780905] Chr20:6077239 [GRCh38]
Chr20:6057886 [GRCh37]
Chr20:20p12.3		 likely benign
NM_017671.5(FERMT1):c.1860+5A>G single nucleotide variant not provided [RCV002695172] Chr20:6079431 [GRCh38]
Chr20:6060078 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_017671.5(FERMT1):c.957+10C>T single nucleotide variant not provided [RCV002894080] Chr20:6097514 [GRCh38]
Chr20:6078161 [GRCh37]
Chr20:20p12.3		 likely benign
NM_017671.5(FERMT1):c.174C>T (p.Asp58=) single nucleotide variant not provided [RCV002710964] Chr20:6116022 [GRCh38]
Chr20:6096669 [GRCh37]
Chr20:20p12.3		 likely benign
NM_017671.5(FERMT1):c.329G>A (p.Arg110Gln) single nucleotide variant Inborn genetic diseases [RCV002696720] Chr20:6115867 [GRCh38]
Chr20:6096514 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_017671.5(FERMT1):c.1612G>A (p.Glu538Lys) single nucleotide variant not provided [RCV002786607] Chr20:6084146 [GRCh38]
Chr20:6064793 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_017671.5(FERMT1):c.386-14dup duplication not provided [RCV003055905] Chr20:6112636..6112637 [GRCh38]
Chr20:6093283..6093284 [GRCh37]
Chr20:20p12.3		 benign
NM_017671.5(FERMT1):c.1594-3C>T single nucleotide variant not provided [RCV002594646] Chr20:6084167 [GRCh38]
Chr20:6064814 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_017671.5(FERMT1):c.1640C>T (p.Pro547Leu) single nucleotide variant not provided [RCV002918207] Chr20:6084118 [GRCh38]
Chr20:6064765 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_017671.5(FERMT1):c.387T>A (p.Asn129Lys) single nucleotide variant not provided [RCV002829814] Chr20:6112622 [GRCh38]
Chr20:6093269 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_017671.5(FERMT1):c.1990C>T (p.Leu664Phe) single nucleotide variant not provided [RCV002575305] Chr20:6077217 [GRCh38]
Chr20:6057864 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_017671.5(FERMT1):c.1403G>C (p.Cys468Ser) single nucleotide variant Inborn genetic diseases [RCV002930962] Chr20:6085256 [GRCh38]
Chr20:6065903 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_017671.5(FERMT1):c.1282G>A (p.Asp428Asn) single nucleotide variant not provided [RCV002914575] Chr20:6087866 [GRCh38]
Chr20:6068513 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_017671.5(FERMT1):c.2012A>C (p.Lys671Thr) single nucleotide variant not provided [RCV003042219] Chr20:6077195 [GRCh38]
Chr20:6057842 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_017671.5(FERMT1):c.1077G>T (p.Ala359=) single nucleotide variant not provided [RCV002853220] Chr20:6096914 [GRCh38]
Chr20:6077561 [GRCh37]
Chr20:20p12.3		 likely benign
NM_017671.5(FERMT1):c.152-5T>G single nucleotide variant not provided [RCV002877047] Chr20:6116049 [GRCh38]
Chr20:6096696 [GRCh37]
Chr20:20p12.3		 likely benign
NM_017671.5(FERMT1):c.1090-16_1090-13del deletion not provided [RCV002632033] Chr20:6095001..6095004 [GRCh38]
Chr20:6075648..6075651 [GRCh37]
Chr20:20p12.3		 likely benign
NM_017671.5(FERMT1):c.298C>T (p.Arg100Cys) single nucleotide variant not provided [RCV002720927] Chr20:6115898 [GRCh38]
Chr20:6096545 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_017671.5(FERMT1):c.1952T>A (p.Ile651Asn) single nucleotide variant not provided [RCV003027272] Chr20:6077255 [GRCh38]
Chr20:6057902 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_017671.5(FERMT1):c.533-13C>T single nucleotide variant not provided [RCV002721002] Chr20:6110524 [GRCh38]
Chr20:6091171 [GRCh37]
Chr20:20p12.3		 likely benign
NM_017671.5(FERMT1):c.1940T>C (p.Ile647Thr) single nucleotide variant not provided [RCV002581496] Chr20:6077267 [GRCh38]
Chr20:6057914 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_017671.5(FERMT1):c.741T>G (p.Asn247Lys) single nucleotide variant not provided [RCV002716398] Chr20:6110303 [GRCh38]
Chr20:6090950 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_017671.5(FERMT1):c.1290T>A (p.Asn430Lys) single nucleotide variant not provided [RCV003044337] Chr20:6087858 [GRCh38]
Chr20:6068505 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_017671.5(FERMT1):c.957+3A>G single nucleotide variant not provided [RCV002598696] Chr20:6097521 [GRCh38]
Chr20:6078168 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_017671.5(FERMT1):c.1616C>T (p.Ala539Val) single nucleotide variant not provided [RCV003089483] Chr20:6084142 [GRCh38]
Chr20:6064789 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_017671.5(FERMT1):c.1800A>G (p.Pro600=) single nucleotide variant not provided [RCV002629233] Chr20:6079496 [GRCh38]
Chr20:6060143 [GRCh37]
Chr20:20p12.3		 likely benign
NM_017671.5(FERMT1):c.1861-20T>C single nucleotide variant not provided [RCV002898702] Chr20:6077366 [GRCh38]
Chr20:6058013 [GRCh37]
Chr20:20p12.3		 likely benign
NM_017671.5(FERMT1):c.747-17A>G single nucleotide variant not provided [RCV002856116] Chr20:6107651 [GRCh38]
Chr20:6088298 [GRCh37]
Chr20:20p12.3		 likely benign
NM_017671.5(FERMT1):c.1558T>A (p.Ser520Thr) single nucleotide variant not provided [RCV003026798] Chr20:6085101 [GRCh38]
Chr20:6065748 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_017671.5(FERMT1):c.541G>T (p.Gly181Cys) single nucleotide variant not provided [RCV002857283] Chr20:6110503 [GRCh38]
Chr20:6091150 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_017671.5(FERMT1):c.1209C>G (p.Tyr403Ter) single nucleotide variant not provided [RCV003064599] Chr20:6089020 [GRCh38]
Chr20:6069667 [GRCh37]
Chr20:20p12.3		 pathogenic
NM_017671.5(FERMT1):c.812G>A (p.Arg271Gln) single nucleotide variant not provided [RCV003064600] Chr20:6107569 [GRCh38]
Chr20:6088216 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_017671.5(FERMT1):c.1856G>A (p.Arg619Gln) single nucleotide variant not provided [RCV002807164] Chr20:6079440 [GRCh38]
Chr20:6060087 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_017671.5(FERMT1):c.1953T>G (p.Ile651Met) single nucleotide variant not provided [RCV002714992] Chr20:6077254 [GRCh38]
Chr20:6057901 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_017671.5(FERMT1):c.81A>G (p.Lys27=) single nucleotide variant not provided [RCV003045310] Chr20:6119474 [GRCh38]
Chr20:6100121 [GRCh37]
Chr20:20p12.3		 likely benign
NM_017671.5(FERMT1):c.1090-2A>G single nucleotide variant not provided [RCV002576602] Chr20:6094990 [GRCh38]
Chr20:6075637 [GRCh37]
Chr20:20p12.3		 likely pathogenic
NM_017671.5(FERMT1):c.1456G>A (p.Val486Ile) single nucleotide variant not provided [RCV002627991] Chr20:6085203 [GRCh38]
Chr20:6065850 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_017671.5(FERMT1):c.927G>A (p.Glu309=) single nucleotide variant not provided [RCV002988842] Chr20:6097554 [GRCh38]
Chr20:6078201 [GRCh37]
Chr20:20p12.3		 likely benign
NM_017671.5(FERMT1):c.1945G>A (p.Gly649Ser) single nucleotide variant not provided [RCV003031314] Chr20:6077262 [GRCh38]
Chr20:6057909 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_017671.5(FERMT1):c.37G>A (p.Glu13Lys) single nucleotide variant not provided [RCV002833213] Chr20:6119518 [GRCh38]
Chr20:6100165 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_017671.5(FERMT1):c.1930C>A (p.His644Asn) single nucleotide variant not provided [RCV002671816] Chr20:6077277 [GRCh38]
Chr20:6057924 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_017671.5(FERMT1):c.1104T>C (p.Asp368=) single nucleotide variant not provided [RCV002833010] Chr20:6094974 [GRCh38]
Chr20:6075621 [GRCh37]
Chr20:20p12.3		 likely benign
NM_017671.5(FERMT1):c.894G>A (p.Trp298Ter) single nucleotide variant not provided [RCV003088304] Chr20:6097587 [GRCh38]
Chr20:6078234 [GRCh37]
Chr20:20p12.3		 pathogenic
NM_017671.5(FERMT1):c.1743C>T (p.Asp581=) single nucleotide variant not provided [RCV002680961] Chr20:6079553 [GRCh38]
Chr20:6060200 [GRCh37]
Chr20:20p12.3		 likely benign
NM_017671.5(FERMT1):c.2019C>G (p.Thr673=) single nucleotide variant not provided [RCV002604186] Chr20:6077188 [GRCh38]
Chr20:6057835 [GRCh37]
Chr20:20p12.3		 likely benign
NM_017671.5(FERMT1):c.1767G>T (p.Arg589Ser) single nucleotide variant not provided [RCV002680879] Chr20:6079529 [GRCh38]
Chr20:6060176 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_017671.5(FERMT1):c.1944C>A (p.Gly648=) single nucleotide variant not provided [RCV002586939] Chr20:6077263 [GRCh38]
Chr20:6057910 [GRCh37]
Chr20:20p12.3		 likely benign
NM_017671.5(FERMT1):c.226A>G (p.Thr76Ala) single nucleotide variant not provided [RCV002606781] Chr20:6115970 [GRCh38]
Chr20:6096617 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_017671.5(FERMT1):c.1927G>A (p.Val643Met) single nucleotide variant not provided [RCV002589777] Chr20:6077280 [GRCh38]
Chr20:6057927 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_017671.5(FERMT1):c.1185C>G (p.Ile395Met) single nucleotide variant not provided [RCV003052099] Chr20:6089044 [GRCh38]
Chr20:6069691 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_017671.5(FERMT1):c.151+14G>C single nucleotide variant not provided [RCV002634765] Chr20:6119390 [GRCh38]
Chr20:6100037 [GRCh37]
Chr20:20p12.3		 likely benign
NM_017671.5(FERMT1):c.532+1G>A single nucleotide variant not provided [RCV002611039] Chr20:6112476 [GRCh38]
Chr20:6093123 [GRCh37]
Chr20:20p12.3		 likely pathogenic
NM_017671.5(FERMT1):c.914T>C (p.Ile305Thr) single nucleotide variant not provided [RCV002613200] Chr20:6097567 [GRCh38]
Chr20:6078214 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_017671.5(FERMT1):c.1857G>A (p.Arg619=) single nucleotide variant not provided [RCV002634976] Chr20:6079439 [GRCh38]
Chr20:6060086 [GRCh37]
Chr20:20p12.3		 likely benign
NM_017671.5(FERMT1):c.1864G>T (p.Val622Phe) single nucleotide variant not provided [RCV002589110] Chr20:6077343 [GRCh38]
Chr20:6057990 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_017671.5(FERMT1):c.1819A>G (p.Thr607Ala) single nucleotide variant not provided [RCV002635162] Chr20:6079477 [GRCh38]
Chr20:6060124 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_017671.5(FERMT1):c.669A>T (p.Gln223His) single nucleotide variant Inborn genetic diseases [RCV003274220]|not provided [RCV003070296] Chr20:6110375 [GRCh38]
Chr20:6091022 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_017671.5(FERMT1):c.1144A>C (p.Lys382Gln) single nucleotide variant not provided [RCV002589636] Chr20:6089085 [GRCh38]
Chr20:6069732 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_017671.5(FERMT1):c.607A>G (p.Met203Val) single nucleotide variant Inborn genetic diseases [RCV003203649] Chr20:6110437 [GRCh38]
Chr20:6091084 [GRCh37]
Chr20:20p12.3		 uncertain significance
GRCh38/hg38 20p13-11.21(chr20:87153-23635465)x3 copy number gain Renal agenesis [RCV003327640] Chr20:87153..23635465 [GRCh38]
Chr20:20p13-11.21		 pathogenic
NM_017671.5(FERMT1):c.465T>C (p.Asn155=) single nucleotide variant not provided [RCV003571648] Chr20:6112544 [GRCh38]
Chr20:6093191 [GRCh37]
Chr20:20p12.3		 likely benign
NM_017671.5(FERMT1):c.329del (p.Arg110fs) deletion not provided [RCV003570379] Chr20:6115867 [GRCh38]
Chr20:6096514 [GRCh37]
Chr20:20p12.3		 pathogenic
NM_017671.5(FERMT1):c.1593+7T>C single nucleotide variant not provided [RCV003569210] Chr20:6085059 [GRCh38]
Chr20:6065706 [GRCh37]
Chr20:20p12.3		 likely benign
GRCh37/hg19 20p13-12.2(chr20:61569-9542361)x3 copy number gain not provided [RCV003485207] Chr20:61569..9542361 [GRCh37]
Chr20:20p13-12.2		 pathogenic
NM_017671.5(FERMT1):c.151+14G>A single nucleotide variant not provided [RCV003831553] Chr20:6119390 [GRCh38]
Chr20:6100037 [GRCh37]
Chr20:20p12.3		 likely benign
NM_017671.5(FERMT1):c.1598C>T (p.Ala533Val) single nucleotide variant not provided [RCV003831863] Chr20:6084160 [GRCh38]
Chr20:6064807 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_017671.5(FERMT1):c.1887C>G (p.Val629=) single nucleotide variant not provided [RCV003690463] Chr20:6077320 [GRCh38]
Chr20:6057967 [GRCh37]
Chr20:20p12.3		 likely benign
NM_017671.5(FERMT1):c.1956C>T (p.Phe652=) single nucleotide variant not provided [RCV003577697] Chr20:6077251 [GRCh38]
Chr20:6057898 [GRCh37]
Chr20:20p12.3		 likely benign
NM_017671.5(FERMT1):c.152-20T>C single nucleotide variant not provided [RCV003660163] Chr20:6116064 [GRCh38]
Chr20:6096711 [GRCh37]
Chr20:20p12.3		 likely benign
NM_017671.5(FERMT1):c.891G>C (p.Arg297Ser) single nucleotide variant not provided [RCV003687396] Chr20:6097590 [GRCh38]
Chr20:6078237 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_017671.5(FERMT1):c.1594-11T>C single nucleotide variant not provided [RCV003835286] Chr20:6084175 [GRCh38]
Chr20:6064822 [GRCh37]
Chr20:20p12.3		 likely benign
NM_017671.5(FERMT1):c.849+11T>A single nucleotide variant not provided [RCV003835595] Chr20:6107521 [GRCh38]
Chr20:6088168 [GRCh37]
Chr20:20p12.3		 likely benign
NM_017671.5(FERMT1):c.1473A>G (p.Ser491=) single nucleotide variant not provided [RCV003811407] Chr20:6085186 [GRCh38]
Chr20:6065833 [GRCh37]
Chr20:20p12.3		 likely benign
NM_017671.5(FERMT1):c.543T>C (p.Gly181=) single nucleotide variant not provided [RCV003696961] Chr20:6110501 [GRCh38]
Chr20:6091148 [GRCh37]
Chr20:20p12.3		 likely benign
NM_017671.5(FERMT1):c.526T>C (p.Ser176Pro) single nucleotide variant not provided [RCV003856235] Chr20:6112483 [GRCh38]
Chr20:6093130 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_017671.5(FERMT1):c.1914A>G (p.Ala638=) single nucleotide variant not provided [RCV003725808] Chr20:6077293 [GRCh38]
Chr20:6057940 [GRCh37]
Chr20:20p12.3		 likely benign
NM_017671.5(FERMT1):c.152-19T>C single nucleotide variant not provided [RCV003665968] Chr20:6116063 [GRCh38]
Chr20:6096710 [GRCh37]
Chr20:20p12.3		 likely benign
NM_017671.5(FERMT1):c.746+18T>C single nucleotide variant not provided [RCV003559711] Chr20:6110280 [GRCh38]
Chr20:6090927 [GRCh37]
Chr20:20p12.3		 likely benign
NM_017671.5(FERMT1):c.958-7A>G single nucleotide variant not provided [RCV003668484] Chr20:6097040 [GRCh38]
Chr20:6077687 [GRCh37]
Chr20:20p12.3		 likely benign
NM_017671.5(FERMT1):c.105A>G (p.Gly35=) single nucleotide variant not provided [RCV003665292] Chr20:6119450 [GRCh38]
Chr20:6100097 [GRCh37]
Chr20:20p12.3		 likely benign
NM_017671.5(FERMT1):c.1756del (p.Ser586fs) deletion not provided [RCV003560134] Chr20:6079540 [GRCh38]
Chr20:6060187 [GRCh37]
Chr20:20p12.3		 pathogenic
NM_017671.5(FERMT1):c.738C>A (p.Leu246=) single nucleotide variant not provided [RCV003682630] Chr20:6110306 [GRCh38]
Chr20:6090953 [GRCh37]
Chr20:20p12.3		 likely benign
NM_017671.5(FERMT1):c.606C>T (p.Thr202=) single nucleotide variant not provided [RCV003711940] Chr20:6110438 [GRCh38]
Chr20:6091085 [GRCh37]
Chr20:20p12.3		 likely benign
NM_017671.5(FERMT1):c.1860+12G>A single nucleotide variant not provided [RCV003706388] Chr20:6079424 [GRCh38]
Chr20:6060071 [GRCh37]
Chr20:20p12.3		 likely benign
NM_017671.5(FERMT1):c.15T>G (p.Thr5=) single nucleotide variant not provided [RCV003681836] Chr20:6119540 [GRCh38]
Chr20:6100187 [GRCh37]
Chr20:20p12.3		 likely benign
NM_017671.5(FERMT1):c.746+14T>A single nucleotide variant not provided [RCV003859154] Chr20:6110284 [GRCh38]
Chr20:6090931 [GRCh37]
Chr20:20p12.3		 likely benign
NM_017671.5(FERMT1):c.1264+18C>T single nucleotide variant not provided [RCV003706429] Chr20:6088947 [GRCh38]
Chr20:6069594 [GRCh37]
Chr20:20p12.3		 likely benign
NM_017671.5(FERMT1):c.636G>T (p.Thr212=) single nucleotide variant not provided [RCV003842402] Chr20:6110408 [GRCh38]
Chr20:6091055 [GRCh37]
Chr20:20p12.3		 likely benign
NM_017671.5(FERMT1):c.1594-14_1594-13del deletion not provided [RCV003552902] Chr20:6084177..6084178 [GRCh38]
Chr20:6064824..6064825 [GRCh37]
Chr20:20p12.3		 likely benign
NM_017671.5(FERMT1):c.1905C>T (p.Cys635=) single nucleotide variant not provided [RCV003822140] Chr20:6077302 [GRCh38]
Chr20:6057949 [GRCh37]
Chr20:20p12.3		 likely benign
NM_017671.5(FERMT1):c.1629G>A (p.Val543=) single nucleotide variant not provided [RCV003705584] Chr20:6084129 [GRCh38]
Chr20:6064776 [GRCh37]
Chr20:20p12.3		 likely benign
NM_017671.5(FERMT1):c.1081_1082del (p.Ser361fs) deletion not provided [RCV003552115] Chr20:6096909..6096910 [GRCh38]
Chr20:6077556..6077557 [GRCh37]
Chr20:20p12.3		 pathogenic
NM_017671.5(FERMT1):c.546A>G (p.Leu182=) single nucleotide variant not provided [RCV003679328] Chr20:6110498 [GRCh38]
Chr20:6091145 [GRCh37]
Chr20:20p12.3		 likely benign
NM_017671.5(FERMT1):c.849+17_849+21del deletion not provided [RCV003868676] Chr20:6107511..6107515 [GRCh38]
Chr20:6088158..6088162 [GRCh37]
Chr20:20p12.3		 likely benign
NM_017671.5(FERMT1):c.1908G>A (p.Leu636=) single nucleotide variant not provided [RCV003711074] Chr20:6077299 [GRCh38]
Chr20:6057946 [GRCh37]
Chr20:20p12.3		 likely benign
NM_017671.5(FERMT1):c.1284T>C (p.Asp428=) single nucleotide variant not provided [RCV003820504] Chr20:6087864 [GRCh38]
Chr20:6068511 [GRCh37]
Chr20:20p12.3		 likely benign
NM_017671.5(FERMT1):c.1719-4T>C single nucleotide variant not provided [RCV003707311] Chr20:6079581 [GRCh38]
Chr20:6060228 [GRCh37]
Chr20:20p12.3		 likely benign
NM_017671.5(FERMT1):c.1593+15G>A single nucleotide variant not provided [RCV003868507] Chr20:6085051 [GRCh38]
Chr20:6065698 [GRCh37]
Chr20:20p12.3		 likely benign
NM_017671.5(FERMT1):c.981G>A (p.Leu327=) single nucleotide variant not provided [RCV003675057] Chr20:6097010 [GRCh38]
Chr20:6077657 [GRCh37]
Chr20:20p12.3		 likely benign
NM_017671.5(FERMT1):c.1090-6dup duplication not provided [RCV003863214] Chr20:6094993..6094994 [GRCh38]
Chr20:6075640..6075641 [GRCh37]
Chr20:20p12.3		 benign
NM_017671.5(FERMT1):c.918T>C (p.Asp306=) single nucleotide variant not provided [RCV003866572] Chr20:6097563 [GRCh38]
Chr20:6078210 [GRCh37]
Chr20:20p12.3		 likely benign
GRCh37/hg19 20p13-12.1(chr20:68351-16142323)x3 copy number gain not provided [RCV003885494] Chr20:68351..16142323 [GRCh37]
Chr20:20p13-12.1		 pathogenic
NM_017671.5(FERMT1):c.1648G>T (p.Glu550Ter) single nucleotide variant Kindler syndrome [RCV003994700] Chr20:6084110 [GRCh38]
Chr20:6064757 [GRCh37]
Chr20:20p12.3		 pathogenic
GRCh37/hg19 20p13-11.21(chr20:68351-23860313)x3 copy number gain not provided [RCV003885495] Chr20:68351..23860313 [GRCh37]
Chr20:20p13-11.21		 pathogenic
NM_017671.5(FERMT1):c.358G>A (p.Ala120Thr) single nucleotide variant Inborn genetic diseases [RCV004391817] Chr20:6115838 [GRCh38]
Chr20:6096485 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_017671.5(FERMT1):c.740A>G (p.Asn247Ser) single nucleotide variant Inborn genetic diseases [RCV004391819] Chr20:6110304 [GRCh38]
Chr20:6090951 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_017671.5(FERMT1):c.1861G>A (p.Val621Met) single nucleotide variant Inborn genetic diseases [RCV004391816] Chr20:6077346 [GRCh38]
Chr20:6057993 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_017671.5(FERMT1):c.680C>T (p.Ser227Phe) single nucleotide variant Inborn genetic diseases [RCV004391818] Chr20:6110364 [GRCh38]
Chr20:6091011 [GRCh37]
Chr20:20p12.3		 uncertain significance
NC_000020.10:g.(?_3190198)_(6760201_?)del deletion Inosine triphosphatase deficiency [RCV004579445] Chr20:3190198..6760201 [GRCh37]
Chr20:20p13-12.3		 pathogenic
NM_017671.5(FERMT1):c.1673C>T (p.Ala558Val) single nucleotide variant Inborn genetic diseases [RCV004618655] Chr20:6084085 [GRCh38]
Chr20:6064732 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_017671.5(FERMT1):c.1144A>G (p.Lys382Glu) single nucleotide variant Inborn genetic diseases [RCV004618651] Chr20:6089085 [GRCh38]
Chr20:6069732 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_017671.5(FERMT1):c.782G>A (p.Gly261Asp) single nucleotide variant Inborn genetic diseases [RCV004618654] Chr20:6107599 [GRCh38]
Chr20:6088246 [GRCh37]
Chr20:20p12.3		 uncertain significance
GRCh37/hg19 20p12.3-12.1(chr20:5454270-13610745)x1 copy number loss Congenital myasthenic syndrome 18 [RCV004767731] Chr20:5454270..13610745 [GRCh37]
Chr20:20p12.3-12.1		 likely pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1707
Count of miRNA genes:789
Interacting mature miRNAs:895
Transcripts:ENST00000217289, ENST00000378844, ENST00000478194, ENST00000536936
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
407324967GWAS973943_Heosinophil count QTL GWAS973943 (human)6e-11eosinophil quantity (VT:0002602)blood eosinophil count (CMO:0000033)2061035486103549Human
407255639GWAS904615_Hinflammatory bowel disease QTL GWAS904615 (human)2e-08inflammatory bowel disease2061132426113243Human
406969079GWAS618055_Hinflammatory bowel disease QTL GWAS618055 (human)1e-08inflammatory bowel disease2061132426113243Human
407105988GWAS754964_Hprotein measurement QTL GWAS754964 (human)8e-09protein measurement2061014116101412Human
407054697GWAS703673_Hprotein measurement QTL GWAS703673 (human)1e-09protein measurement2061014116101412Human
407004712GWAS653688_HCrohn's disease QTL GWAS653688 (human)0.0000002Crohn's disease2061132426113243Human

Markers in Region
SHGC-56771  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37206,055,625 - 6,055,752UniSTSGRCh37
Build 36206,003,625 - 6,003,752RGDNCBI36
Celera206,126,899 - 6,127,026RGD
Cytogenetic Map20p12.3UniSTS
HuRef206,012,301 - 6,012,428UniSTS
TNG Radiation Hybrid Map204057.0UniSTS
RH99293  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37206,056,145 - 6,056,321UniSTSGRCh37
Build 36206,004,145 - 6,004,321RGDNCBI36
Celera206,127,420 - 6,127,596RGD
Cytogenetic Map20p12.3UniSTS
HuRef206,012,822 - 6,012,998UniSTS
GeneMap99-GB4 RH Map2036.6UniSTS
MARC_15247-15248:1012578424:3  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37206,064,746 - 6,065,829UniSTSGRCh37
Celera206,136,023 - 6,137,106UniSTS
HuRef206,021,424 - 6,022,507UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
1193 2432 2737 2215 4932 1705 2329 5 608 1474 451 2244 6718 5954 50 3707 820 1734 1607 173

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_016213 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_017671 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024451935 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047440259 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047440260 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054323631 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054323632 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054323633 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB105105 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB905557 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB905558 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF443278 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK000123 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK000747 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK025365 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK027076 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK092195 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK225216 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK314394 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL118505 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY137240 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC035882 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC040545 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX647465 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471133 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068258 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000217289   ⟹   ENSP00000217289
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl206,074,845 - 6,123,030 (-)Ensembl
Ensembl Acc Id: ENST00000378844   ⟹   ENSP00000368121
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl206,112,569 - 6,120,492 (-)Ensembl
Ensembl Acc Id: ENST00000478194
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl206,074,845 - 6,094,172 (-)Ensembl
Ensembl Acc Id: ENST00000536936   ⟹   ENSP00000441063
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl206,076,022 - 6,123,030 (-)Ensembl
Ensembl Acc Id: ENST00000699095   ⟹   ENSP00000514127
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl206,075,455 - 6,123,073 (-)Ensembl
Ensembl Acc Id: ENST00000699096
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl206,087,310 - 6,123,214 (-)Ensembl
Ensembl Acc Id: ENST00000699097
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl206,095,336 - 6,107,550 (-)Ensembl
Ensembl Acc Id: ENST00000699098   ⟹   ENSP00000514312
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl206,107,450 - 6,119,554 (-)Ensembl
RefSeq Acc Id: NM_017671   ⟹   NP_060141
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38206,074,845 - 6,123,030 (-)NCBI
GRCh37206,055,492 - 6,104,191 (-)ENTREZGENE
Build 36206,003,492 - 6,052,191 (-)NCBI Archive
HuRef206,012,168 - 6,061,355 (-)ENTREZGENE
CHM1_1206,055,497 - 6,104,189 (-)NCBI
T2T-CHM13v2.0206,116,428 - 6,164,613 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024451935   ⟹   XP_024307703
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38206,074,845 - 6,123,030 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047440259   ⟹   XP_047296215
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38206,074,845 - 6,123,030 (-)NCBI
RefSeq Acc Id: XM_047440260   ⟹   XP_047296216
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38206,074,845 - 6,119,509 (-)NCBI
RefSeq Acc Id: XM_054323631   ⟹   XP_054179606
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0206,116,428 - 6,164,613 (-)NCBI
RefSeq Acc Id: XM_054323632   ⟹   XP_054179607
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0206,116,428 - 6,164,613 (-)NCBI
RefSeq Acc Id: XM_054323633   ⟹   XP_054179608
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0206,116,428 - 6,161,092 (-)NCBI
RefSeq Acc Id: NP_060141   ⟸   NM_017671
- UniProtKB: Q9NWM2 (UniProtKB/Swiss-Prot),   Q8IYH2 (UniProtKB/Swiss-Prot),   Q8IX34 (UniProtKB/Swiss-Prot),   D3DW10 (UniProtKB/Swiss-Prot),   Q9NXQ3 (UniProtKB/Swiss-Prot),   Q9BQL6 (UniProtKB/Swiss-Prot),   Q54A15 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_024307703   ⟸   XM_024451935
- Peptide Label: isoform X1
- UniProtKB: Q9NWM2 (UniProtKB/Swiss-Prot),   Q9BQL6 (UniProtKB/Swiss-Prot),   Q8IYH2 (UniProtKB/Swiss-Prot),   Q8IX34 (UniProtKB/Swiss-Prot),   D3DW10 (UniProtKB/Swiss-Prot),   Q9NXQ3 (UniProtKB/Swiss-Prot),   Q54A15 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000217289   ⟸   ENST00000217289
Ensembl Acc Id: ENSP00000368121   ⟸   ENST00000378844
Ensembl Acc Id: ENSP00000441063   ⟸   ENST00000536936
RefSeq Acc Id: XP_047296215   ⟸   XM_047440259
- Peptide Label: isoform X1
- UniProtKB: Q9NWM2 (UniProtKB/Swiss-Prot),   Q9BQL6 (UniProtKB/Swiss-Prot),   Q8IYH2 (UniProtKB/Swiss-Prot),   Q8IX34 (UniProtKB/Swiss-Prot),   D3DW10 (UniProtKB/Swiss-Prot),   Q9NXQ3 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047296216   ⟸   XM_047440260
- Peptide Label: isoform X2
Ensembl Acc Id: ENSP00000514127   ⟸   ENST00000699095
Ensembl Acc Id: ENSP00000514312   ⟸   ENST00000699098
RefSeq Acc Id: XP_054179606   ⟸   XM_054323631
- Peptide Label: isoform X1
- UniProtKB: Q9NWM2 (UniProtKB/Swiss-Prot),   Q9BQL6 (UniProtKB/Swiss-Prot),   Q8IYH2 (UniProtKB/Swiss-Prot),   Q8IX34 (UniProtKB/Swiss-Prot),   D3DW10 (UniProtKB/Swiss-Prot),   Q9NXQ3 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054179607   ⟸   XM_054323632
- Peptide Label: isoform X1
- UniProtKB: Q9NWM2 (UniProtKB/Swiss-Prot),   Q9BQL6 (UniProtKB/Swiss-Prot),   Q8IYH2 (UniProtKB/Swiss-Prot),   Q8IX34 (UniProtKB/Swiss-Prot),   D3DW10 (UniProtKB/Swiss-Prot),   Q9NXQ3 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054179608   ⟸   XM_054323633
- Peptide Label: isoform X2
Protein Domains
FERM   Kindlin-2 N-terminal   PH

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9BQL6-F1-model_v2 AlphaFold Q9BQL6 1-677 view protein structure

Promoters
RGD ID:6798685
Promoter ID:HG_KWN:38535
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   Lymphoblastoid,   NB4
Transcripts:ENST00000339538,   NM_017671,   UC002WMS.2,   UC010GBT.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36206,051,501 - 6,052,001 (-)MPROMDB
RGD ID:13206341
Promoter ID:EPDNEW_H26749
Type:initiation region
Name:FERMT1_4
Description:fermitin family member 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H26750  EPDNEW_H26751  EPDNEW_H26752  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38206,115,951 - 6,116,011EPDNEW
RGD ID:13206337
Promoter ID:EPDNEW_H26750
Type:initiation region
Name:FERMT1_1
Description:fermitin family member 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H26751  EPDNEW_H26749  EPDNEW_H26752  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38206,123,030 - 6,123,090EPDNEW
RGD ID:13206339
Promoter ID:EPDNEW_H26751
Type:initiation region
Name:FERMT1_2
Description:fermitin family member 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H26750  EPDNEW_H26749  EPDNEW_H26752  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38206,123,444 - 6,123,504EPDNEW
RGD ID:13206345
Promoter ID:EPDNEW_H26752
Type:initiation region
Name:FERMT1_3
Description:fermitin family member 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H26750  EPDNEW_H26751  EPDNEW_H26749  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38206,123,592 - 6,123,652EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:15889 AgrOrtholog
COSMIC FERMT1 COSMIC
Ensembl Genes ENSG00000101311 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000217289 ENTREZGENE
  ENST00000217289.9 UniProtKB/Swiss-Prot
  ENST00000536936.1 UniProtKB/TrEMBL
  ENST00000699095 ENTREZGENE
  ENST00000699095.1 UniProtKB/Swiss-Prot
  ENST00000699098.1 UniProtKB/TrEMBL
Gene3D-CATH 1.20.80.10 UniProtKB/TrEMBL
  2.30.29.30 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000101311 GTEx
HGNC ID HGNC:15889 ENTREZGENE
Human Proteome Map FERMT1 Human Proteome Map
InterPro Band_41_domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FERM/acyl-CoA-bd_prot_sf UniProtKB/TrEMBL
  FERM_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FERM_central UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Kindlin/fermitin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Kindlin_2_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PH-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PH_domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PH_Kindlin/fermitin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:55612 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 55612 ENTREZGENE
OMIM 607900 OMIM
PANTHER FERMITIN FAMILY HOMOLOG 1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR16160 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam FERM_M UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Kindlin_2_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PF00169 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA162388314 PharmGKB
PROSITE FERM_2 UniProtKB/Swiss-Prot
  PH_DOMAIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART B41 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SM00233 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP PH domain-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF47031 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A8V8TN73_HUMAN UniProtKB/TrEMBL
  D3DW10 ENTREZGENE
  FERM1_HUMAN UniProtKB/Swiss-Prot
  G3V1L6_HUMAN UniProtKB/TrEMBL
  Q49AC8_HUMAN UniProtKB/TrEMBL
  Q54A15 ENTREZGENE, UniProtKB/TrEMBL
  Q8IX34 ENTREZGENE
  Q8IYH2 ENTREZGENE
  Q9BQL6 ENTREZGENE
  Q9NWM2 ENTREZGENE
  Q9NXQ3 ENTREZGENE
UniProt Secondary D3DW10 UniProtKB/Swiss-Prot
  Q8IX34 UniProtKB/Swiss-Prot
  Q8IYH2 UniProtKB/Swiss-Prot
  Q9NWM2 UniProtKB/Swiss-Prot
  Q9NXQ3 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2021-02-15 FERMT1  FERM domain containing kindlin 1  FERMT1  fermitin family member 1  Symbol and/or name change 19259463 PROVISIONAL
2011-07-27 FERMT1  fermitin family member 1  FERMT1  fermitin family homolog 1 (Drosophila)  Symbol and/or name change 5135510 APPROVED