FAT4 (FAT atypical cadherin 4) - Rat Genome Database

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Gene: FAT4 (FAT atypical cadherin 4) Homo sapiens
Analyze
Symbol: FAT4
Name: FAT atypical cadherin 4
RGD ID: 1342504
HGNC Page HGNC:23109
Description: Predicted to enable calcium ion binding activity. Predicted to be involved in heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules; hippo signaling; and nervous system development. Predicted to act upstream of or within several processes, including cell surface receptor signaling pathway; condensed mesenchymal cell proliferation; and ossification involved in bone maturation. Located in extracellular exosome. Implicated in Hennekam syndrome and Van Maldergem syndrome 2.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: cadherin family member 14; cadherin-related family member 11; CDHF14; CDHR11; FAT tumor suppressor homolog 4; FAT-J; fat-like cadherin FATJ; fat-like cadherin protein FAT-J; FATJ; FLJ23056; FLJ77878; hFat4; HKLLS2; NBLA00548; protocadherin Fat 4; putative protein product of Nbla00548; VMLDS2
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
GRCh384125,314,955 - 125,492,932 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl4125,314,918 - 125,492,932 (+)EnsemblGRCh38hg38GRCh38
GRCh374126,236,110 - 126,414,087 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 364126,457,017 - 126,632,373 (+)NCBINCBI36Build 36hg18NCBI36
Build 344126,672,695 - 126,770,528NCBI
Celera4123,617,849 - 123,794,372 (+)NCBICelera
Cytogenetic Map4q28.1NCBI
HuRef4121,965,923 - 122,142,399 (+)NCBIHuRef
CHM1_14126,214,142 - 126,390,638 (+)NCBICHM1_1
T2T-CHM13v2.04128,617,253 - 128,795,252 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(-)-epigallocatechin 3-gallate  (EXP)
1,2-dimethylhydrazine  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4,6-tribromophenol  (EXP)
2,4-dinitrobenzenesulfonic acid  (ISO)
3,3',5,5'-tetrabromobisphenol A  (EXP,ISO)
4,4'-sulfonyldiphenol  (ISO)
4-hydroxyphenyl retinamide  (ISO)
6-propyl-2-thiouracil  (ISO)
aflatoxin B1  (EXP)
antirheumatic drug  (EXP)
aristolochic acid A  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
arsenite(3-)  (EXP)
atrazine  (ISO)
benzo[a]pyrene  (EXP,ISO)
bis(2-ethylhexyl) phthalate  (EXP)
bisphenol A  (EXP,ISO)
cadmium dichloride  (EXP)
carbon nanotube  (ISO)
chloroprene  (ISO)
chromium(6+)  (EXP)
coumarin  (EXP)
Cuprizon  (ISO)
cyclosporin A  (EXP)
decabromodiphenyl ether  (EXP)
dibutyl phthalate  (ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP)
elemental selenium  (EXP)
endosulfan  (ISO)
epoxiconazole  (ISO)
ethanol  (ISO)
folic acid  (EXP,ISO)
gentamycin  (ISO)
glycidol  (ISO)
ketamine  (ISO)
maneb  (ISO)
manganese(II) chloride  (ISO)
melphalan  (EXP)
methylmercury chloride  (EXP)
N-methyl-4-phenylpyridinium  (EXP,ISO)
ozone  (ISO)
paracetamol  (ISO)
paraquat  (ISO)
pentanal  (EXP)
pioglitazone  (ISO)
potassium chromate  (EXP)
S-(1,2-dichlorovinyl)-L-cysteine  (EXP)
SB 431542  (EXP)
selenium atom  (EXP)
sevoflurane  (ISO)
silicon dioxide  (EXP)
silver atom  (ISO)
silver(0)  (ISO)
sodium arsenate  (ISO)
sodium arsenite  (EXP)
sunitinib  (EXP)
titanium dioxide  (ISO)
toluene  (ISO)
tributylstannane  (ISO)
trichostatin A  (EXP)
trimellitic anhydride  (ISO)
triptonide  (ISO)
valproic acid  (EXP,ISO)
vinclozolin  (ISO)
vitamin E  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal dental morphology  (IAGP)
Abnormal facial shape  (IAGP)
Abnormal foot morphology  (IAGP)
Abnormal heart morphology  (IAGP)
Abnormal oral mucosa morphology  (IAGP)
Abnormal pinna morphology  (IAGP)
Abnormal tracheal morphology  (IAGP)
Absence of pubertal development  (IAGP)
Agenesis of corpus callosum  (IAGP)
Anal stenosis  (IAGP)
Anteriorly placed anus  (IAGP)
Arteriovenous malformation  (IAGP)
Ascites  (IAGP)
Ataxia  (IAGP)
Atresia of the external auditory canal  (IAGP)
Autosomal recessive inheritance  (IAGP)
Benign neoplasm of the central nervous system  (IAGP)
Bifid scrotum  (IAGP)
Bilateral choanal atresia/stenosis  (IAGP)
Blepharophimosis  (IAGP)
Broad forehead  (IAGP)
Camptodactyly  (IAGP)
Camptodactyly of finger  (IAGP)
Caudal appendage  (IAGP)
Cerebellar vermis hypoplasia  (IAGP)
Chylothorax  (IAGP)
Clinodactyly  (IAGP)
Conductive hearing impairment  (IAGP)
Congenital onset  (IAGP)
Craniosynostosis  (IAGP)
Cryptorchidism  (IAGP)
Cutaneous finger syndactyly  (IAGP)
Cutaneous syndactyly of toes  (IAGP)
Decreased circulating antibody concentration  (IAGP)
Delayed eruption of teeth  (IAGP)
Dental malocclusion  (IAGP)
Depressed nasal bridge  (IAGP)
Downturned corners of mouth  (IAGP)
Dysplastic corpus callosum  (IAGP)
Ectopic kidney  (IAGP)
Epicanthus  (IAGP)
Erysipelas  (IAGP)
Feeding difficulties  (IAGP)
Feeding difficulties in infancy  (IAGP)
Finger syndactyly  (IAGP)
Flat face  (IAGP)
Full cheeks  (IAGP)
Gastrostomy tube feeding in infancy  (IAGP)
Gingival overgrowth  (IAGP)
Glaucoma  (IAGP)
Global developmental delay  (IAGP)
Gray matter heterotopia  (IAGP)
Growth delay  (IAGP)
Hearing impairment  (IAGP)
High anterior hairline  (IAGP)
High palate  (IAGP)
Hip subluxation  (IAGP)
Horseshoe kidney  (IAGP)
Hydrops fetalis  (IAGP)
Hypertelorism  (IAGP)
Hypocalcemia  (IAGP)
Hypoplasia of the corpus callosum  (IAGP)
Hypoplasia of the maxilla  (IAGP)
Hypoplastic nipples  (IAGP)
Hypospadias  (IAGP)
Hypotonia  (IAGP)
Infantile muscular hypotonia  (IAGP)
Inguinal hernia  (IAGP)
Intellectual disability  (IAGP)
Intellectual disability, mild  (IAGP)
Intellectual disability, moderate  (IAGP)
Intellectual disability, severe  (IAGP)
Intestinal lymphangiectasia  (IAGP)
Irregular dentition  (IAGP)
Joint hypermobility  (IAGP)
Large fontanelles  (IAGP)
Low-set ears  (IAGP)
Low-set nipples  (IAGP)
Lymphadenopathy  (IAGP)
Lymphangioma  (IAGP)
Lymphedema  (IAGP)
Lymphopenia  (IAGP)
Malabsorption  (IAGP)
Malar flattening  (IAGP)
Microcephaly  (IAGP)
Micrognathia  (IAGP)
Micropenis  (IAGP)
Microtia  (IAGP)
Midface retrusion  (IAGP)
Mild postnatal growth retardation  (IAGP)
Narrow chest  (IAGP)
Narrow forehead  (IAGP)
Narrow mouth  (IAGP)
Narrow palpebral fissure  (IAGP)
Osteopenia  (IAGP)
Osteoporosis  (IAGP)
Pachygyria  (IAGP)
Pericardial effusion  (IAGP)
Pericardial lymphangiectasia  (IAGP)
Periventricular nodular heterotopia  (IAGP)
Pleural effusion  (IAGP)
Prominent forehead  (IAGP)
Ptosis  (IAGP)
Pulmonary lymphangiectasia  (IAGP)
Pulmonic stenosis  (IAGP)
Pyloric stenosis  (IAGP)
Recurrent respiratory infections  (IAGP)
Renal hypoplasia  (IAGP)
Respiratory insufficiency  (IAGP)
Retrognathia  (IAGP)
Right ventricular hypertrophy  (IAGP)
Sacral dimple  (IAGP)
Scoliosis  (IAGP)
Seizure  (IAGP)
Self-injurious behavior  (IAGP)
Sensorineural hearing impairment  (IAGP)
Short 4th metacarpal  (IAGP)
Short clavicles  (IAGP)
Short fourth metatarsal  (IAGP)
Short palpebral fissure  (IAGP)
Short philtrum  (IAGP)
Short stature  (IAGP)
Single umbilical artery  (IAGP)
Skeletal dysplasia  (IAGP)
Small cell lung carcinoma  (IAGP)
Sparse axillary hair  (IAGP)
Splenomegaly  (IAGP)
Stenosis of the external auditory canal  (IAGP)
Subcortical band heterotopia  (IAGP)
Supernumerary tooth  (IAGP)
Syndactyly  (IAGP)
Talipes equinovarus  (IAGP)
Tented upper lip vermilion  (IAGP)
Tooth agenesis  (IAGP)
Tracheomalacia  (IAGP)
Ulnar deviation of the hand  (IAGP)
Ventriculomegaly  (IAGP)
Wide anterior fontanel  (IAGP)
Wide cranial sutures  (IAGP)
Wide intermamillary distance  (IAGP)
Wide nasal bridge  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
2. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
4. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:14702039   PMID:15003449   PMID:15345747   PMID:16713569   PMID:16865240   PMID:19048595   PMID:19734545   PMID:20351715   PMID:20379614   PMID:21873635   PMID:21875946   PMID:22153077  
PMID:22484628   PMID:22658674   PMID:23319386   PMID:23376485   PMID:23533145   PMID:23974041   PMID:24056717   PMID:24349473   PMID:24913602   PMID:25355906   PMID:25679223   PMID:25798074  
PMID:25930014   PMID:26186194   PMID:26575609   PMID:26633557   PMID:26672766   PMID:26792292   PMID:28514442   PMID:28826487   PMID:29507755   PMID:29676528   PMID:30021884   PMID:30546116  
PMID:30832706   PMID:31182584   PMID:31217854   PMID:31358536   PMID:31395065   PMID:31871319   PMID:32366234   PMID:33063118   PMID:33961781   PMID:34130359   PMID:34349018   PMID:35696571  
PMID:35770846   PMID:35844135   PMID:35906200   PMID:36051999   PMID:36797229   PMID:36811800   PMID:37751246   PMID:38055646   PMID:39178518  


Genomics

Comparative Map Data
FAT4
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh384125,314,955 - 125,492,932 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl4125,314,918 - 125,492,932 (+)EnsemblGRCh38hg38GRCh38
GRCh374126,236,110 - 126,414,087 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 364126,457,017 - 126,632,373 (+)NCBINCBI36Build 36hg18NCBI36
Build 344126,672,695 - 126,770,528NCBI
Celera4123,617,849 - 123,794,372 (+)NCBICelera
Cytogenetic Map4q28.1NCBI
HuRef4121,965,923 - 122,142,399 (+)NCBIHuRef
CHM1_14126,214,142 - 126,390,638 (+)NCBICHM1_1
T2T-CHM13v2.04128,617,253 - 128,795,252 (+)NCBIT2T-CHM13v2.0
Fat4
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39338,939,867 - 39,066,134 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl338,941,089 - 39,066,134 (+)EnsemblGRCm39 Ensembl
GRCm38338,884,667 - 39,011,992 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl338,886,940 - 39,011,985 (+)EnsemblGRCm38mm10GRCm38
MGSCv37338,785,862 - 38,910,907 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36339,078,489 - 39,203,530 (+)NCBIMGSCv36mm8
Celera338,729,877 - 38,854,312 (+)NCBICelera
Cytogenetic Map3BNCBI
cM Map318.72NCBI
Fat4
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr82123,855,289 - 123,984,716 (+)NCBIGRCr8
mRatBN7.22121,927,266 - 122,056,700 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl2121,927,942 - 122,056,707 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx2128,499,081 - 128,627,276 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.02126,611,655 - 126,739,826 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.02121,240,615 - 121,368,809 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.02125,751,818 - 125,879,398 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl2125,752,130 - 125,879,387 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0 Ensembl2126,267,658 - 126,284,238 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.02145,349,239 - 145,477,455 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Rnor_5.02145,864,192 - 145,880,594 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.42125,847,465 - 125,975,620 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera2116,853,380 - 116,981,485 (+)NCBICelera
Cytogenetic Map2q25NCBI
Fat4
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495542815,622,498 - 15,810,896 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495542815,621,333 - 15,812,167 (-)NCBIChiLan1.0ChiLan1.0
FAT4
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v23123,095,738 - 123,273,598 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan14123,362,918 - 123,540,913 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v04117,494,842 - 117,674,382 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.14128,637,516 - 128,814,413 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl4128,637,516 - 128,814,407 (+)Ensemblpanpan1.1panPan2
FAT4
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11915,157,595 - 15,332,821 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1915,158,922 - 15,332,045 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1915,363,356 - 15,537,231 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01915,259,451 - 15,431,654 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1915,259,604 - 15,430,959 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11915,223,649 - 15,398,514 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01915,500,460 - 15,675,303 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01915,965,180 - 16,139,594 (-)NCBIUU_Cfam_GSD_1.0
Fat4
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440530163,414,526 - 63,583,319 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049366623,537,925 - 3,690,877 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049366623,537,917 - 3,704,012 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
FAT4
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl899,148,496 - 99,310,519 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1899,141,967 - 99,312,131 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.28105,998,766 - 106,018,349 (+)NCBISscrofa10.2Sscrofa10.2susScr3
FAT4
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1772,498,182 - 72,686,607 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl772,500,264 - 72,685,546 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366603751,514,689 - 51,708,405 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Fat4
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247776,095,643 - 6,292,980 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247776,095,166 - 6,293,142 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in FAT4
2538 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001291303.3(FAT4):c.8861T>G (p.Ile2954Arg) single nucleotide variant not provided [RCV000523511] Chr4:125449871 [GRCh38]
Chr4:126371026 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.3065A>G (p.Asp1022Gly) single nucleotide variant not provided [RCV000521396] Chr4:125319476 [GRCh38]
Chr4:126240631 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.6554C>A (p.Thr2185Lys) single nucleotide variant not provided [RCV000521528] Chr4:125415517 [GRCh38]
Chr4:126336672 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.10061C>A (p.Thr3354Asn) single nucleotide variant not provided [RCV000521688] Chr4:125451071 [GRCh38]
Chr4:126372226 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.9163C>A (p.Gln3055Lys) single nucleotide variant not provided [RCV000522178] Chr4:125450173 [GRCh38]
Chr4:126371328 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.9365T>C (p.Met3122Thr) single nucleotide variant not provided [RCV000523696] Chr4:125450375 [GRCh38]
Chr4:126371530 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.3842A>G (p.Tyr1281Cys) single nucleotide variant not provided [RCV000722703] Chr4:125320253 [GRCh38]
Chr4:126241408 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.4257C>G (p.Ser1419Arg) single nucleotide variant not provided [RCV000519656] Chr4:125320668 [GRCh38]
Chr4:126241823 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.12769G>A (p.Glu4257Lys) single nucleotide variant Inborn genetic diseases [RCV002527594]|not provided [RCV000519230]|not specified [RCV003114649] Chr4:125481685 [GRCh38]
Chr4:126402840 [GRCh37]
Chr4:4q28.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001291303.3(FAT4):c.3424G>A (p.Val1142Met) single nucleotide variant FAT4-related disorder [RCV003935380]|not provided [RCV001445290]|not specified [RCV004525957] Chr4:125319835 [GRCh38]
Chr4:126240990 [GRCh37]
Chr4:4q28.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001291303.3(FAT4):c.1237A>G (p.Lys413Glu) single nucleotide variant not provided [RCV000518910] Chr4:125317648 [GRCh38]
Chr4:126238803 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_024582.4(FAT4):c.5175+3379C>T single nucleotide variant Lung cancer [RCV000094041] Chr4:125324965 [GRCh38]
Chr4:126246120 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.12482G>T (p.Cys4161Phe) single nucleotide variant Van Maldergem syndrome 2 [RCV000074488] Chr4:125479743 [GRCh38]
Chr4:126400898 [GRCh37]
Chr4:4q28.1		 pathogenic
NM_001291303.3(FAT4):c.13199G>A (p.Cys4400Tyr) single nucleotide variant Van Maldergem syndrome 2 [RCV000074489] Chr4:125490015 [GRCh38]
Chr4:126411170 [GRCh37]
Chr4:4q28.1		 pathogenic
NM_001291303.3(FAT4):c.7123G>A (p.Glu2375Lys) single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 2 [RCV000144157]|Van Maldergem syndrome 2 [RCV000074490] Chr4:125434349 [GRCh38]
Chr4:126355504 [GRCh37]
Chr4:4q28.1		 pathogenic
NM_001291303.3(FAT4):c.9487G>T (p.Glu3163Ter) single nucleotide variant Van Maldergem syndrome 2 [RCV000074491] Chr4:125450497 [GRCh38]
Chr4:126371652 [GRCh37]
Chr4:4q28.1		 pathogenic
NM_001291303.3(FAT4):c.14518_14519del (p.Ser4840fs) deletion Van Maldergem syndrome 2 [RCV000074492] Chr4:125491334..125491335 [GRCh38]
Chr4:126412489..126412490 [GRCh37]
Chr4:4q28.1		 pathogenic
NM_001291303.3(FAT4):c.11461C>T (p.Arg3821Ter) single nucleotide variant Van Maldergem syndrome 2 [RCV000074493]|not provided [RCV001854272] Chr4:125452471 [GRCh38]
Chr4:126373626 [GRCh37]
Chr4:4q28.1		 pathogenic
GRCh38/hg38 4q26-35.2(chr4:118065569-190042639)x3 copy number gain See cases [RCV000051785] Chr4:118065569..190042639 [GRCh38]
Chr4:118986724..190828225 [GRCh37]
Chr4:119206172..191200788 [NCBI36]
Chr4:4q26-35.2		 pathogenic
GRCh38/hg38 4q27-35.2(chr4:121518223-190062270)x3 copy number gain See cases [RCV000051786] Chr4:121518223..190062270 [GRCh38]
Chr4:122439378..190828225 [GRCh37]
Chr4:122658828..191220419 [NCBI36]
Chr4:4q27-35.2		 pathogenic
GRCh38/hg38 4q22.2-32.3(chr4:92913386-165299707)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051775]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051775]|See cases [RCV000051775] Chr4:92913386..165299707 [GRCh38]
Chr4:93834537..166220859 [GRCh37]
Chr4:94053560..166440309 [NCBI36]
Chr4:4q22.2-32.3		 pathogenic
GRCh38/hg38 4q22.3-28.3(chr4:96092893-136410207)x3 copy number gain See cases [RCV000051776] Chr4:96092893..136410207 [GRCh38]
Chr4:97014044..137331362 [GRCh37]
Chr4:97233067..137550812 [NCBI36]
Chr4:4q22.3-28.3		 pathogenic
GRCh38/hg38 4q26-31.21(chr4:116630862-145429900)x1 copy number loss See cases [RCV000053321] Chr4:116630862..145429900 [GRCh38]
Chr4:117552018..146351052 [GRCh37]
Chr4:117771466..146570502 [NCBI36]
Chr4:4q26-31.21		 pathogenic
GRCh38/hg38 4q28.1(chr4:124055204-126331108)x1 copy number loss See cases [RCV000053322] Chr4:124055204..126331108 [GRCh38]
Chr4:124976359..127252263 [GRCh37]
Chr4:125195809..127471713 [NCBI36]
Chr4:4q28.1		 pathogenic
NM_024582.4(FAT4):c.8357C>T (p.Pro2786Leu) single nucleotide variant Malignant melanoma [RCV000066267] Chr4:125449373 [GRCh38]
Chr4:126370528 [GRCh37]
Chr4:126589978 [NCBI36]
Chr4:4q28.1		 not provided
NM_024582.4(FAT4):c.9449A>T (p.Lys3150Ile) single nucleotide variant Malignant melanoma [RCV000066268] Chr4:125450465 [GRCh38]
Chr4:126371620 [GRCh37]
Chr4:126591070 [NCBI36]
Chr4:4q28.1		 not provided
NM_024582.4(FAT4):c.10206C>T (p.Pro3402=) single nucleotide variant Malignant melanoma [RCV000066269] Chr4:125451222 [GRCh38]
Chr4:126372377 [GRCh37]
Chr4:126591827 [NCBI36]
Chr4:4q28.1		 not provided
NM_024582.4(FAT4):c.11289G>A (p.Leu3763=) single nucleotide variant Malignant melanoma [RCV000066270] Chr4:125452305 [GRCh38]
Chr4:126373460 [GRCh37]
Chr4:126592910 [NCBI36]
Chr4:4q28.1		 not provided
NM_024582.4(FAT4):c.13884C>T (p.Ile4628=) single nucleotide variant Malignant melanoma [RCV000066271] Chr4:125490706 [GRCh38]
Chr4:126411861 [GRCh37]
Chr4:126631311 [NCBI36]
Chr4:4q28.1		 not provided
NM_001291303.3(FAT4):c.14389C>T (p.Leu4797Phe) single nucleotide variant not provided [RCV003688771] Chr4:125491205 [GRCh38]
Chr4:126412360 [GRCh37]
Chr4:126631810 [NCBI36]
Chr4:4q28.1		 uncertain significance|not provided
NM_024582.4(FAT4):c.8695C>T (p.Pro2899Ser) single nucleotide variant Malignant melanoma [RCV000060908] Chr4:125449711 [GRCh38]
Chr4:126370866 [GRCh37]
Chr4:126590316 [NCBI36]
Chr4:4q28.1		 not provided
NM_024582.4(FAT4):c.10450G>A (p.Asp3484Asn) single nucleotide variant Malignant melanoma [RCV000060909] Chr4:125451466 [GRCh38]
Chr4:126372621 [GRCh37]
Chr4:126592071 [NCBI36]
Chr4:4q28.1		 not provided
NM_024582.4(FAT4):c.10626T>C (p.Gly3542=) single nucleotide variant Malignant melanoma [RCV000060910] Chr4:125451642 [GRCh38]
Chr4:126372797 [GRCh37]
Chr4:126592247 [NCBI36]
Chr4:4q28.1		 not provided
NM_024582.4(FAT4):c.11169G>A (p.Lys3723=) single nucleotide variant Malignant melanoma [RCV000060911] Chr4:125452185 [GRCh38]
Chr4:126373340 [GRCh37]
Chr4:126592790 [NCBI36]
Chr4:4q28.1		 not provided
NM_024582.4(FAT4):c.12937G>A (p.Gly4313Arg) single nucleotide variant Malignant melanoma [RCV000060912] Chr4:125487465 [GRCh38]
Chr4:126408620 [GRCh37]
Chr4:126628070 [NCBI36]
Chr4:4q28.1		 not provided
NM_001291303.3(FAT4):c.13417G>A (p.Val4473Ile) single nucleotide variant FAT4-related disorder [RCV003918099]|not provided [RCV000657948]|not specified [RCV001175011] Chr4:125490233 [GRCh38]
Chr4:126411388 [GRCh37]
Chr4:4q28.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001291303.3(FAT4):c.13180C>T (p.Pro4394Ser) single nucleotide variant not provided [RCV000657980] Chr4:125489996 [GRCh38]
Chr4:126411151 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_024582.4(FAT4):c.7517C>T (p.Ser2506Leu) single nucleotide variant Malignant melanoma [RCV000074322] Chr4:125448533 [GRCh38]
Chr4:126369688 [GRCh37]
Chr4:126589138 [NCBI36]
Chr4:4q28.1		 not provided
NM_001291303.3(FAT4):c.9363G>A (p.Ala3121=) single nucleotide variant not provided [RCV003878811] Chr4:125450373 [GRCh38]
Chr4:126371528 [GRCh37]
Chr4:126590978 [NCBI36]
Chr4:4q28.1		 likely benign|not provided
NM_001291303.3(FAT4):c.13899G>A (p.Ser4633=) single nucleotide variant not provided [RCV003819432] Chr4:125490715 [GRCh38]
Chr4:126411870 [GRCh37]
Chr4:126631320 [NCBI36]
Chr4:4q28.1		 likely benign|not provided
NM_001291303.3(FAT4):c.5597C>T (p.Thr1866Met) single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 2 [RCV003458324]|not provided [RCV000255467] Chr4:125408471 [GRCh38]
Chr4:126329626 [GRCh37]
Chr4:4q28.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_001291303.3(FAT4):c.5424C>G (p.Ser1808=) single nucleotide variant not provided [RCV000928781]|not specified [RCV000603297] Chr4:125406996 [GRCh38]
Chr4:126328151 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.7035TGGAAC[3] (p.2346GT[3]) microsatellite Hennekam lymphangiectasia-lymphedema syndrome 2 [RCV000144158] Chr4:125434258..125434259 [GRCh38]
Chr4:126355413..126355414 [GRCh37]
Chr4:4q28.1		 pathogenic
NM_001291303.3(FAT4):c.1195del (p.Leu399fs) deletion Hennekam lymphangiectasia-lymphedema syndrome 2 [RCV000144159] Chr4:125317606 [GRCh38]
Chr4:126238761 [GRCh37]
Chr4:4q28.1		 pathogenic
NM_001291303.3(FAT4):c.12851C>T (p.Ser4284Phe) single nucleotide variant FAT4-related disorder [RCV004751284]|Hennekam lymphangiectasia-lymphedema syndrome 2 [RCV000144160]|not provided [RCV000592047] Chr4:125487373 [GRCh38]
Chr4:126408528 [GRCh37]
Chr4:4q28.1		 pathogenic|uncertain significance
NM_001291303.3(FAT4):c.7204A>C (p.Arg2402=) single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 2 [RCV000144161] Chr4:125446297 [GRCh38]
Chr4:126367452 [GRCh37]
Chr4:4q28.1		 pathogenic
NM_001291303.3(FAT4):c.3962T>C (p.Phe1321Ser) single nucleotide variant Inborn genetic diseases [RCV002563289]|not provided [RCV001493944] Chr4:125320373 [GRCh38]
Chr4:126241528 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.7231A>T (p.Thr2411Ser) single nucleotide variant FAT4-related disorder [RCV003927908]|Inborn genetic diseases [RCV004619348]|not provided [RCV000597171]|not specified [RCV002222561] Chr4:125446324 [GRCh38]
Chr4:126367479 [GRCh37]
Chr4:4q28.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001291303.3(FAT4):c.14663C>G (p.Ala4888Gly) single nucleotide variant FAT4-related disorder [RCV003915430]|not provided [RCV000514350]|not specified [RCV000614233] Chr4:125491479 [GRCh38]
Chr4:126412634 [GRCh37]
Chr4:4q28.1		 benign|likely benign
NM_001291303.3(FAT4):c.6515A>C (p.Asp2172Ala) single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 2 [RCV001333191] Chr4:125415478 [GRCh38]
Chr4:126336633 [GRCh37]
Chr4:4q28.1		 uncertain significance
GRCh38/hg38 4q28.1-28.3(chr4:125118620-132773079)x1 copy number loss See cases [RCV000135316] Chr4:125118620..132773079 [GRCh38]
Chr4:126039775..133694234 [GRCh37]
Chr4:126259225..133913684 [NCBI36]
Chr4:4q28.1-28.3		 pathogenic
GRCh38/hg38 4q28.1-35.1(chr4:125432943-185761887)x3 copy number gain See cases [RCV000138578] Chr4:125432943..185761887 [GRCh38]
Chr4:126354098..186683041 [GRCh37]
Chr4:126573548..186920035 [NCBI36]
Chr4:4q28.1-35.1		 pathogenic|likely benign
GRCh38/hg38 4q28.1(chr4:123215841-125460263)x1 copy number loss See cases [RCV000139139] Chr4:123215841..125460263 [GRCh38]
Chr4:124136996..126381418 [GRCh37]
Chr4:124356446..126600868 [NCBI36]
Chr4:4q28.1		 uncertain significance
GRCh38/hg38 4q26-28.3(chr4:117351881-133565667)x1 copy number loss See cases [RCV000143207] Chr4:117351881..133565667 [GRCh38]
Chr4:118273037..134486822 [GRCh37]
Chr4:118492485..134706272 [NCBI36]
Chr4:4q26-28.3		 pathogenic
NM_001291303.3(FAT4):c.7966A>C (p.Lys2656Gln) single nucleotide variant Anophthalmia-microphthalmia syndrome [RCV000207371]|not provided [RCV002517389] Chr4:125448976 [GRCh38]
Chr4:126370131 [GRCh37]
Chr4:4q28.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001291303.3(FAT4):c.131A>C (p.Glu44Ala) single nucleotide variant Irido-corneo-trabecular dysgenesis [RCV000207378]|not provided [RCV001497990] Chr4:125316542 [GRCh38]
Chr4:126237697 [GRCh37]
Chr4:4q28.1		 likely benign|conflicting interpretations of pathogenicity
NM_001291303.3(FAT4):c.10853C>T (p.Thr3618Met) single nucleotide variant FAT4-related disorder [RCV003939912]|not provided [RCV000882277]|not specified [RCV000239280] Chr4:125451863 [GRCh38]
Chr4:126373018 [GRCh37]
Chr4:4q28.1		 benign|likely benign|conflicting interpretations of pathogenicity
NM_001291303.3(FAT4):c.12870G>C (p.Gly4290=) single nucleotide variant FAT4-related disorder [RCV003980162]|not specified [RCV000606221] Chr4:125487392 [GRCh38]
Chr4:126408547 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.13292A>T (p.Asp4431Val) single nucleotide variant not provided [RCV000487510] Chr4:125490108 [GRCh38]
Chr4:126411263 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.10199C>T (p.Ala3400Val) single nucleotide variant not provided [RCV000521863] Chr4:125451209 [GRCh38]
Chr4:126372364 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.13627A>T (p.Lys4543Ter) single nucleotide variant not provided [RCV000520709] Chr4:125490443 [GRCh38]
Chr4:126411598 [GRCh37]
Chr4:4q28.1		 likely pathogenic
GRCh37/hg19 4q26-35.2(chr4:119437495-190904301)x3 copy number gain See cases [RCV000240392] Chr4:119437495..190904301 [GRCh37]
Chr4:4q26-35.2		 pathogenic
NM_001291303.3(FAT4):c.12091G>A (p.Glu4031Lys) single nucleotide variant not provided [RCV000489558] Chr4:125468697 [GRCh38]
Chr4:126389852 [GRCh37]
Chr4:4q28.1		 likely pathogenic
NM_001291303.3(FAT4):c.6094A>G (p.Thr2032Ala) single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 2 [RCV003458201]|not provided [RCV001700194]|not specified [RCV000489561] Chr4:125415057 [GRCh38]
Chr4:126336212 [GRCh37]
Chr4:4q28.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001291303.3(FAT4):c.6719C>T (p.Thr2240Ile) single nucleotide variant not provided [RCV000489669] Chr4:125415682 [GRCh38]
Chr4:126336837 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.13641GAA[2] (p.Lys4551del) microsatellite not provided [RCV000722769] Chr4:125490456..125490458 [GRCh38]
Chr4:126411611..126411613 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.11153G>A (p.Arg3718His) single nucleotide variant not provided [RCV000523891] Chr4:125452163 [GRCh38]
Chr4:126373318 [GRCh37]
Chr4:4q28.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_001291303.3(FAT4):c.6977C>T (p.Thr2326Ile) single nucleotide variant FAT4-related disorder [RCV004751563]|Inborn genetic diseases [RCV002525999]|not provided [RCV000488172] Chr4:125416581 [GRCh38]
Chr4:126337736 [GRCh37]
Chr4:4q28.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_001291303.3(FAT4):c.12611C>T (p.Thr4204Ile) single nucleotide variant not provided [RCV000521612] Chr4:125481527 [GRCh38]
Chr4:126402682 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.151G>C (p.Val51Leu) single nucleotide variant not provided [RCV002284658] Chr4:125316562 [GRCh38]
Chr4:126237717 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.14441G>A (p.Arg4814Lys) single nucleotide variant Inborn genetic diseases [RCV000622417]|not provided [RCV002531889] Chr4:125491257 [GRCh38]
Chr4:126412412 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.10560G>A (p.Met3520Ile) single nucleotide variant Van Maldergem syndrome 2 [RCV000626045]|not provided [RCV001418858] Chr4:125451570 [GRCh38]
Chr4:126372725 [GRCh37]
Chr4:4q28.1		 likely benign|uncertain significance
NM_001291303.3(FAT4):c.831G>A (p.Ala277=) single nucleotide variant not provided [RCV001522800]|not specified [RCV000600040] Chr4:125317242 [GRCh38]
Chr4:126238397 [GRCh37]
Chr4:4q28.1		 benign
NM_001291303.3(FAT4):c.6991G>A (p.Val2331Ile) single nucleotide variant not provided [RCV000521678] Chr4:125416595 [GRCh38]
Chr4:126337750 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.12066C>T (p.Gly4022=) single nucleotide variant FAT4-related disorder [RCV003927946]|not provided [RCV000599570] Chr4:125468672 [GRCh38]
Chr4:126389827 [GRCh37]
Chr4:4q28.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001291303.3(FAT4):c.1163C>T (p.Pro388Leu) single nucleotide variant not provided [RCV001865294]|not specified [RCV000414579] Chr4:125317574 [GRCh38]
Chr4:126238729 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.11040G>A (p.Thr3680=) single nucleotide variant not provided [RCV000731234] Chr4:125452050 [GRCh38]
Chr4:126373205 [GRCh37]
Chr4:4q28.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_001291303.3(FAT4):c.5367C>T (p.Ile1789=) single nucleotide variant not provided [RCV000731236] Chr4:125406939 [GRCh38]
Chr4:126328094 [GRCh37]
Chr4:4q28.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_001291303.3(FAT4):c.3682C>G (p.Gln1228Glu) single nucleotide variant FAT4-related disorder [RCV004751511]|not provided [RCV001461674]|not specified [RCV000412975] Chr4:125320093 [GRCh38]
Chr4:126241248 [GRCh37]
Chr4:4q28.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance|no classifications from unflagged records
NM_001291303.3(FAT4):c.7516T>G (p.Ser2506Ala) single nucleotide variant Inborn genetic diseases [RCV002533102]|not provided [RCV000729160] Chr4:125448526 [GRCh38]
Chr4:126369681 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.9602A>G (p.Tyr3201Cys) single nucleotide variant Inborn genetic diseases [RCV004022169]|not provided [RCV001317235]|not specified [RCV000413428] Chr4:125450612 [GRCh38]
Chr4:126371767 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.8588T>C (p.Phe2863Ser) single nucleotide variant Ascites [RCV000735354] Chr4:125449598 [GRCh38]
Chr4:126370753 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.3328G>A (p.Glu1110Lys) single nucleotide variant not provided [RCV002521433]|not specified [RCV000414176] Chr4:125319739 [GRCh38]
Chr4:126240894 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.9235A>G (p.Ile3079Val) single nucleotide variant Van Maldergem syndrome 1 [RCV001824874]|not provided [RCV000734957] Chr4:125450245 [GRCh38]
Chr4:126371400 [GRCh37]
Chr4:4q28.1		 uncertain significance|not provided
GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3 copy number gain See cases [RCV000446653] Chr4:12440..190904441 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
NM_001291303.3(FAT4):c.6585T>C (p.Asn2195=) single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 2 [RCV001702648]|Van Maldergem syndrome 2 [RCV001702647]|not provided [RCV001513624]|not specified [RCV000437766] Chr4:125415548 [GRCh38]
Chr4:126336703 [GRCh37]
Chr4:4q28.1		 benign
NM_001291303.3(FAT4):c.8985C>T (p.Thr2995=) single nucleotide variant not specified [RCV000441253] Chr4:125449995 [GRCh38]
Chr4:126371150 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.4305C>T (p.Ile1435=) single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 2 [RCV001702365]|Van Maldergem syndrome 2 [RCV001702456]|not provided [RCV001511554]|not specified [RCV000417585] Chr4:125320716 [GRCh38]
Chr4:126241871 [GRCh37]
Chr4:4q28.1		 benign
NM_001291303.3(FAT4):c.11619C>T (p.Cys3873=) single nucleotide variant not provided [RCV000903239]|not specified [RCV000417641] Chr4:125452629 [GRCh38]
Chr4:126373784 [GRCh37]
Chr4:4q28.1		 benign|likely benign|conflicting interpretations of pathogenicity
NM_001291303.3(FAT4):c.11624G>A (p.Ser3875Asn) single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 2 [RCV001702469]|Van Maldergem syndrome 2 [RCV000987472]|not provided [RCV001511557]|not specified [RCV000417654] Chr4:125452634 [GRCh38]
Chr4:126373789 [GRCh37]
Chr4:4q28.1		 benign
NM_001291303.3(FAT4):c.9891G>A (p.Val3297=) single nucleotide variant not provided [RCV000901594]|not specified [RCV001821180] Chr4:125450901 [GRCh38]
Chr4:126372056 [GRCh37]
Chr4:4q28.1		 benign|likely benign
NM_001291303.3(FAT4):c.405C>T (p.Phe135=) single nucleotide variant not provided [RCV001513620]|not specified [RCV000434582] Chr4:125316816 [GRCh38]
Chr4:126237971 [GRCh37]
Chr4:4q28.1		 benign
NM_001291303.3(FAT4):c.6219A>G (p.Gln2073=) single nucleotide variant FAT4-related disorder [RCV003902551]|not provided [RCV000886109]|not specified [RCV000437842] Chr4:125415182 [GRCh38]
Chr4:126336337 [GRCh37]
Chr4:4q28.1		 benign|likely benign
NM_001291303.3(FAT4):c.12381G>A (p.Val4127=) single nucleotide variant FAT4-related disorder [RCV003932623]|not provided [RCV002058939]|not specified [RCV000437901] Chr4:125477236 [GRCh38]
Chr4:126398391 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.7787T>C (p.Leu2596Ser) single nucleotide variant FAT4-related disorder [RCV003932589]|Inborn genetic diseases [RCV002521573]|not provided [RCV000883740] Chr4:125448797 [GRCh38]
Chr4:126369952 [GRCh37]
Chr4:4q28.1		 benign|likely benign
NM_001291303.3(FAT4):c.11820A>G (p.Ser3940=) single nucleotide variant not provided [RCV001519021]|not specified [RCV000441550] Chr4:125463582 [GRCh38]
Chr4:126384737 [GRCh37]
Chr4:4q28.1		 benign
NM_001291303.3(FAT4):c.12819G>A (p.Val4273=) single nucleotide variant not provided [RCV001512215]|not specified [RCV000417880] Chr4:125481735 [GRCh38]
Chr4:126402890 [GRCh37]
Chr4:4q28.1		 benign
NM_001291303.3(FAT4):c.3417T>C (p.Phe1139=) single nucleotide variant not provided [RCV001485697] Chr4:125319828 [GRCh38]
Chr4:126240983 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.524G>T (p.Arg175Leu) single nucleotide variant not provided [RCV000891705]|not specified [RCV001821210] Chr4:125316935 [GRCh38]
Chr4:126238090 [GRCh37]
Chr4:4q28.1		 benign|likely benign|conflicting interpretations of pathogenicity
NM_001291303.3(FAT4):c.10577G>A (p.Gly3526Asp) single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 2 [RCV001702473]|Van Maldergem syndrome 2 [RCV000987471]|not provided [RCV001513625]|not specified [RCV000427798] Chr4:125451587 [GRCh38]
Chr4:125451587..125451588 [GRCh38]
Chr4:126372742 [GRCh37]
Chr4:126372742..126372743 [GRCh37]
Chr4:4q28.1		 benign
NM_001291303.3(FAT4):c.9649C>T (p.His3217Tyr) single nucleotide variant not provided [RCV001518274]|not specified [RCV000427880] Chr4:125450659 [GRCh38]
Chr4:126371814 [GRCh37]
Chr4:4q28.1		 benign
NM_001291303.3(FAT4):c.3769C>G (p.Gln1257Glu) single nucleotide variant not provided [RCV001513623]|not specified [RCV000418372] Chr4:125320180 [GRCh38]
Chr4:126241335 [GRCh37]
Chr4:4q28.1		 benign
NM_001291303.3(FAT4):c.4303A>G (p.Ile1435Val) single nucleotide variant FAT4-related disorder [RCV003902476]|Hennekam lymphangiectasia-lymphedema syndrome 2 [RCV002272230]|Inborn genetic diseases [RCV002524765]|not provided [RCV000957572]|not specified [RCV000435235] Chr4:125320714 [GRCh38]
Chr4:126241869 [GRCh37]
Chr4:4q28.1		 benign|likely benign
NM_001291303.3(FAT4):c.10810A>C (p.Ile3604Leu) single nucleotide variant Van Maldergem syndrome 2 [RCV002488869]|not provided [RCV000417464]|not specified [RCV000455730] Chr4:125451820 [GRCh38]
Chr4:126372975 [GRCh37]
Chr4:4q28.1		 benign|likely benign|conflicting interpretations of pathogenicity
NM_001291303.3(FAT4):c.14325G>A (p.Pro4775=) single nucleotide variant FAT4-related disorder [RCV003970204]|not provided [RCV001473739] Chr4:125491141 [GRCh38]
Chr4:126412296 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.13623G>A (p.Glu4541=) single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 2 [RCV001702771]|Van Maldergem syndrome 2 [RCV001702650]|not provided [RCV001514930]|not specified [RCV000421361] Chr4:125490439 [GRCh38]
Chr4:126411594 [GRCh37]
Chr4:4q28.1		 benign
NM_001291303.3(FAT4):c.739C>A (p.Pro247Thr) single nucleotide variant FAT4-related disorder [RCV003912659]|not provided [RCV000884529]|not specified [RCV000421415] Chr4:125317150 [GRCh38]
Chr4:126238305 [GRCh37]
Chr4:4q28.1		 benign|likely benign|conflicting interpretations of pathogenicity
NM_001291303.3(FAT4):c.6478A>G (p.Lys2160Glu) single nucleotide variant FAT4-related disorder [RCV003922793]|not provided [RCV000899120] Chr4:125415441 [GRCh38]
Chr4:126336596 [GRCh37]
Chr4:4q28.1		 benign|likely benign
NM_001291303.3(FAT4):c.10793C>G (p.Ser3598Cys) single nucleotide variant not provided [RCV000442568] Chr4:125451803 [GRCh38]
Chr4:126372958 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.14135C>G (p.Ser4712Cys) single nucleotide variant not provided [RCV001517628]|not specified [RCV000442602] Chr4:125490951 [GRCh38]
Chr4:126412106 [GRCh37]
Chr4:4q28.1		 benign
NM_001291303.3(FAT4):c.4219G>A (p.Val1407Ile) single nucleotide variant not provided [RCV000964970]|not specified [RCV000442603] Chr4:125320630 [GRCh38]
Chr4:126241785 [GRCh37]
Chr4:4q28.1		 benign|likely benign
NM_001291303.3(FAT4):c.3096A>G (p.Ala1032=) single nucleotide variant not provided [RCV000903412]|not specified [RCV000421487] Chr4:125319507 [GRCh38]
Chr4:126240662 [GRCh37]
Chr4:4q28.1		 benign
NM_001291303.3(FAT4):c.13605G>A (p.Lys4535=) single nucleotide variant not provided [RCV000954628]|not specified [RCV000425090] Chr4:125490421 [GRCh38]
Chr4:126411576 [GRCh37]
Chr4:4q28.1		 benign
NM_001291303.3(FAT4):c.5598G>A (p.Thr1866=) single nucleotide variant not provided [RCV001698377] Chr4:125408472 [GRCh38]
Chr4:126329627 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.12214-5C>T single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 2 [RCV001702375]|Van Maldergem syndrome 2 [RCV001702449]|not provided [RCV001514365]|not specified [RCV000435538] Chr4:125476166 [GRCh38]
Chr4:126397321 [GRCh37]
Chr4:4q28.1		 benign
NM_001291303.3(FAT4):c.7707G>C (p.Val2569=) single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 2 [RCV001702649]|Van Maldergem syndrome 2 [RCV001702448]|not provided [RCV001511556]|not specified [RCV000442698] Chr4:125448717 [GRCh38]
Chr4:126369872 [GRCh37]
Chr4:4q28.1		 benign
NM_001291303.3(FAT4):c.5275A>G (p.Ile1759Val) single nucleotide variant FAT4-related disorder [RCV003912598]|Hennekam lymphangiectasia-lymphedema syndrome 2 [RCV001270064]|Inborn genetic diseases [RCV004022262]|not provided [RCV000421249]|not specified [RCV000500269] Chr4:125398883 [GRCh38]
Chr4:126320038 [GRCh37]
Chr4:4q28.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001291303.3(FAT4):c.4154T>C (p.Leu1385Ser) single nucleotide variant FAT4-related disorder [RCV003912697]|not provided [RCV000972408]|not specified [RCV001821182] Chr4:125320565 [GRCh38]
Chr4:126241720 [GRCh37]
Chr4:4q28.1		 benign|likely benign
NM_001291303.3(FAT4):c.14920C>T (p.Pro4974Ser) single nucleotide variant not provided [RCV001515465]|not specified [RCV000428726] Chr4:125491736 [GRCh38]
Chr4:126412891 [GRCh37]
Chr4:4q28.1		 benign
NM_001291303.3(FAT4):c.8482G>A (p.Asp2828Asn) single nucleotide variant not provided [RCV001514364]|not specified [RCV000428774] Chr4:125449492 [GRCh38]
Chr4:126370647 [GRCh37]
Chr4:4q28.1		 benign
NM_001291303.3(FAT4):c.1296T>C (p.Pro432=) single nucleotide variant not provided [RCV000937224] Chr4:125317707 [GRCh38]
Chr4:126238862 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.14604A>G (p.Arg4868=) single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 2 [RCV001702471]|Van Maldergem syndrome 2 [RCV001702470]|not provided [RCV001515464]|not specified [RCV000439258] Chr4:125491420 [GRCh38]
Chr4:126412575 [GRCh37]
Chr4:4q28.1		 benign
NM_001291303.3(FAT4):c.8544C>T (p.Ser2848=) single nucleotide variant FAT4-related disorder [RCV003932611]|not provided [RCV000954253]|not specified [RCV000419246] Chr4:125449554 [GRCh38]
Chr4:126370709 [GRCh37]
Chr4:4q28.1		 benign
NM_001291303.3(FAT4):c.8592G>A (p.Val2864=) single nucleotide variant Van Maldergem syndrome 2 [RCV002481311]|not provided [RCV000961565]|not specified [RCV000419263] Chr4:125449602 [GRCh38]
Chr4:126370757 [GRCh37]
Chr4:4q28.1		 benign|likely benign
NM_001291303.3(FAT4):c.9810G>A (p.Val3270=) single nucleotide variant not provided [RCV000906533]|not specified [RCV000422019] Chr4:125450820 [GRCh38]
Chr4:126371975 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.12909C>T (p.Asp4303=) single nucleotide variant not provided [RCV001515463]|not specified [RCV000429006] Chr4:125487431 [GRCh38]
Chr4:126408586 [GRCh37]
Chr4:4q28.1		 benign
NM_001291303.3(FAT4):c.1101A>G (p.Val367=) single nucleotide variant Van Maldergem syndrome 2 [RCV002502537]|not provided [RCV000972407]|not specified [RCV000435858] Chr4:125317512 [GRCh38]
Chr4:126238667 [GRCh37]
Chr4:4q28.1		 benign|likely benign
NM_001291303.3(FAT4):c.960G>A (p.Ser320=) single nucleotide variant not specified [RCV000439460] Chr4:125317371 [GRCh38]
Chr4:126238526 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.1358A>T (p.Gln453Leu) single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 2 [RCV001702472]|Van Maldergem syndrome 2 [RCV001702772]|not provided [RCV001513621]|not specified [RCV000443191] Chr4:125317769 [GRCh38]
Chr4:126238924 [GRCh37]
Chr4:4q28.1		 benign
NM_001291303.3(FAT4):c.3402A>T (p.Glu1134Asp) single nucleotide variant FAT4-related disorder [RCV003972639]|not provided [RCV000908699] Chr4:125319813 [GRCh38]
Chr4:126240968 [GRCh37]
Chr4:4q28.1		 benign|likely benign
NM_001291303.3(FAT4):c.9828C>T (p.Pro3276=) single nucleotide variant not provided [RCV000903413] Chr4:125450838 [GRCh38]
Chr4:126371993 [GRCh37]
Chr4:4q28.1		 benign|likely benign
NM_001291303.3(FAT4):c.2811G>T (p.Lys937Asn) single nucleotide variant not provided [RCV000908162]|not specified [RCV001821200] Chr4:125319222 [GRCh38]
Chr4:126240377 [GRCh37]
Chr4:4q28.1		 benign|likely benign|uncertain significance
NM_001291303.3(FAT4):c.14688C>T (p.His4896=) single nucleotide variant FAT4-related disorder [RCV003902553]|not provided [RCV000881201] Chr4:125491504 [GRCh38]
Chr4:126412659 [GRCh37]
Chr4:4q28.1		 benign|likely benign
NM_001291303.3(FAT4):c.11405C>T (p.Ser3802Phe) single nucleotide variant not provided [RCV001511564]|not specified [RCV000443424] Chr4:125452415 [GRCh38]
Chr4:126373570 [GRCh37]
Chr4:4q28.1		 benign
NM_001291303.3(FAT4):c.2944T>C (p.Leu982=) single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 2 [RCV001702646]|Van Maldergem syndrome 2 [RCV001702468]|not provided [RCV001511553]|not specified [RCV000443502] Chr4:125319355 [GRCh38]
Chr4:126240510 [GRCh37]
Chr4:4q28.1		 benign
NM_001291303.3(FAT4):c.13554G>A (p.Leu4518=) single nucleotide variant FAT4-related disorder [RCV003902566]|not provided [RCV000949496] Chr4:125490370 [GRCh38]
Chr4:126411525 [GRCh37]
Chr4:4q28.1		 benign|likely benign
NM_001291303.3(FAT4):c.5760T>C (p.Asp1920=) single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 2 [RCV001702467]|Van Maldergem syndrome 2 [RCV001702466]|not provided [RCV001511555]|not specified [RCV000436313] Chr4:125408634 [GRCh38]
Chr4:126329789 [GRCh37]
Chr4:4q28.1		 benign
NM_001291303.3(FAT4):c.1698C>T (p.Ala566=) single nucleotide variant FAT4-related disorder [RCV003942455]|not provided [RCV002060072]|not specified [RCV000436333] Chr4:125318109 [GRCh38]
Chr4:126239264 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.14718C>T (p.Gly4906=) single nucleotide variant FAT4-related disorder [RCV003970164]|not provided [RCV002062702]|not specified [RCV000420085] Chr4:125491534 [GRCh38]
Chr4:126412689 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.13404G>A (p.Val4468=) single nucleotide variant FAT4-related disorder [RCV003922742]|not provided [RCV000883741] Chr4:125490220 [GRCh38]
Chr4:126411375 [GRCh37]
Chr4:4q28.1		 benign|likely benign
NM_001291303.3(FAT4):c.12855T>C (p.Asp4285=) single nucleotide variant FAT4-related disorder [RCV003912657]|not provided [RCV000960023]|not specified [RCV000429845] Chr4:125487377 [GRCh38]
Chr4:126408532 [GRCh37]
Chr4:4q28.1		 benign|likely benign|conflicting interpretations of pathogenicity
NM_001291303.3(FAT4):c.12071G>A (p.Arg4024Gln) single nucleotide variant not provided [RCV000880136]|not specified [RCV000429861] Chr4:125468677 [GRCh38]
Chr4:126389832 [GRCh37]
Chr4:4q28.1		 benign|likely benign
NM_001291303.3(FAT4):c.3687G>C (p.Val1229=) single nucleotide variant not provided [RCV001521789]|not specified [RCV000436512] Chr4:125320098 [GRCh38]
Chr4:126241253 [GRCh37]
Chr4:4q28.1		 benign
NM_001291303.3(FAT4):c.11488A>G (p.Lys3830Glu) single nucleotide variant FAT4-related disorder [RCV003912718]|not provided [RCV000961566]|not specified [RCV000426337] Chr4:125452498 [GRCh38]
Chr4:126373653 [GRCh37]
Chr4:4q28.1		 benign
NM_001291303.3(FAT4):c.14361C>T (p.Val4787=) single nucleotide variant Van Maldergem syndrome 2 [RCV002502510]|not provided [RCV001514366]|not specified [RCV000429966] Chr4:125491177 [GRCh38]
Chr4:126412332 [GRCh37]
Chr4:4q28.1		 benign|likely benign
NM_001291303.3(FAT4):c.7131A>G (p.Ala2377=) single nucleotide variant not provided [RCV002521709]|not specified [RCV000433299] Chr4:125434357 [GRCh38]
Chr4:126355512 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.11429A>G (p.His3810Arg) single nucleotide variant not provided [RCV000888976]|not specified [RCV000433403] Chr4:125452439 [GRCh38]
Chr4:126373594 [GRCh37]
Chr4:4q28.1		 benign
NM_001291303.3(FAT4):c.1128G>A (p.Val376=) single nucleotide variant not provided [RCV000949495]|not specified [RCV000433407] Chr4:125317539 [GRCh38]
Chr4:126238694 [GRCh37]
Chr4:4q28.1		 benign|likely benign|conflicting interpretations of pathogenicity
NM_001291303.3(FAT4):c.3768A>G (p.Arg1256=) single nucleotide variant FAT4-related disorder [RCV003942383]|not provided [RCV001861549]|not specified [RCV000423017] Chr4:125320179 [GRCh38]
Chr4:126241334 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.12070C>T (p.Arg4024Trp) single nucleotide variant FAT4-related disorder [RCV003912656]|not provided [RCV000960022]|not specified [RCV000423018] Chr4:125468676 [GRCh38]
Chr4:126389831 [GRCh37]
Chr4:4q28.1		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001291303.3(FAT4):c.14183G>A (p.Arg4728Lys) single nucleotide variant not provided [RCV001513631]|not specified [RCV000430138] Chr4:125490999 [GRCh38]
Chr4:126412154 [GRCh37]
Chr4:4q28.1		 benign
NM_001291303.3(FAT4):c.12986A>G (p.Asp4329Gly) single nucleotide variant FAT4-related disorder [RCV003912752]|not provided [RCV000896235]|not specified [RCV001821202] Chr4:125487508 [GRCh38]
Chr4:126408663 [GRCh37]
Chr4:4q28.1		 benign|likely benign
NM_001291303.3(FAT4):c.12852C>T (p.Ser4284=) single nucleotide variant not provided [RCV000961567]|not specified [RCV000433527] Chr4:125487374 [GRCh38]
Chr4:126408529 [GRCh37]
Chr4:4q28.1		 benign
NM_001291303.3(FAT4):c.2420C>T (p.Ala807Val) single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 2 [RCV001702445]|Van Maldergem syndrome 2 [RCV001702645]|not provided [RCV001513622]|not specified [RCV000433556] Chr4:125318831 [GRCh38]
Chr4:126239986 [GRCh37]
Chr4:4q28.1		 benign
NM_001291303.3(FAT4):c.4530T>C (p.Tyr1510=) single nucleotide variant not specified [RCV000430646] Chr4:125320941 [GRCh38]
Chr4:126242096 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.13460C>T (p.Ala4487Val) single nucleotide variant Inborn genetic diseases [RCV003258815]|not provided [RCV000434024] Chr4:125490276 [GRCh38]
Chr4:126411431 [GRCh37]
Chr4:4q28.1		 conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 4q28.1(chr4:125251081-128286629) copy number loss Abnormal esophagus morphology [RCV000416839] Chr4:125251081..128286629 [GRCh37]
Chr4:4q28.1		 likely pathogenic
NM_001291303.3(FAT4):c.8731T>C (p.Tyr2911His) single nucleotide variant not provided [RCV000479744] Chr4:125449741 [GRCh38]
Chr4:126370896 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.2527C>T (p.Gln843Ter) single nucleotide variant not provided [RCV000482687] Chr4:125318938 [GRCh38]
Chr4:126240093 [GRCh37]
Chr4:4q28.1		 pathogenic|likely pathogenic
NM_001291303.3(FAT4):c.8021A>T (p.Asp2674Val) single nucleotide variant FAT4-related disorder [RCV003972810]|Van Maldergem syndrome 2 [RCV000626046]|not provided [RCV000481182] Chr4:125449031 [GRCh38]
Chr4:126370186 [GRCh37]
Chr4:4q28.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001291303.3(FAT4):c.4250C>A (p.Pro1417His) single nucleotide variant not provided [RCV000482217] Chr4:125320661 [GRCh38]
Chr4:126241816 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.2705TGG[1] (p.Val903del) microsatellite FAT4-related disorder [RCV003900015]|not provided [RCV000482254] Chr4:125319115..125319117 [GRCh38]
Chr4:126240270..126240272 [GRCh37]
Chr4:4q28.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001291303.3(FAT4):c.5921-18dup duplication not specified [RCV000482333] Chr4:125414860..125414861 [GRCh38]
Chr4:126336015..126336016 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.14666G>A (p.Arg4889Lys) single nucleotide variant FAT4-related disorder [RCV003935353]|not provided [RCV000513675]|not specified [RCV000521280] Chr4:125491482 [GRCh38]
Chr4:126412637 [GRCh37]
Chr4:4q28.1		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001291303.3(FAT4):c.5317G>T (p.Ala1773Ser) single nucleotide variant not provided [RCV000478843] Chr4:125406889 [GRCh38]
Chr4:126328044 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.7103C>A (p.Ala2368Glu) single nucleotide variant FAT4-related disorder [RCV003902733]|Hennekam lymphangiectasia-lymphedema syndrome 2 [RCV001333192]|not provided [RCV000483029] Chr4:125434329 [GRCh38]
Chr4:126355484 [GRCh37]
Chr4:4q28.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001291303.3(FAT4):c.2896A>G (p.Ile966Val) single nucleotide variant not provided [RCV000498909] Chr4:125319307 [GRCh38]
Chr4:126240462 [GRCh37]
Chr4:4q28.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_001291303.3(FAT4):c.12647G>A (p.Arg4216His) single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 2 [RCV001333189]|Inborn genetic diseases [RCV002524078]|not provided [RCV000498993] Chr4:125481563 [GRCh38]
Chr4:126402718 [GRCh37]
Chr4:4q28.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_001291303.3(FAT4):c.7935C>T (p.Asp2645=) single nucleotide variant FAT4-related disorder [RCV003935285]|not provided [RCV000836436]|not specified [RCV000501732] Chr4:125448945 [GRCh38]
Chr4:126370100 [GRCh37]
Chr4:4q28.1		 benign|likely benign
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473) copy number gain See cases [RCV000510453] Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
NM_001291303.3(FAT4):c.14677C>G (p.Arg4893Gly) single nucleotide variant not provided [RCV000497592] Chr4:125491493 [GRCh38]
Chr4:126412648 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.7358G>T (p.Ser2453Ile) single nucleotide variant FAT4-related disorder [RCV003935287]|Inborn genetic diseases [RCV002527251]|not provided [RCV000836435]|not specified [RCV000502268] Chr4:125446451 [GRCh38]
Chr4:126367606 [GRCh37]
Chr4:4q28.1		 benign|likely benign
NM_001291303.3(FAT4):c.5401C>T (p.Arg1801Trp) single nucleotide variant Inborn genetic diseases [RCV002527139]|not provided [RCV000497799] Chr4:125406973 [GRCh38]
Chr4:126328128 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.5987A>G (p.Lys1996Arg) single nucleotide variant FAT4-related disorder [RCV003935286]|Inborn genetic diseases [RCV002524183]|not provided [RCV000836434]|not specified [RCV000500173] Chr4:125414950 [GRCh38]
Chr4:126336105 [GRCh37]
Chr4:4q28.1		 likely benign|uncertain significance
NM_001291303.3(FAT4):c.9696G>A (p.Ala3232=) single nucleotide variant not provided [RCV002060117]|not specified [RCV000500139] Chr4:125450706 [GRCh38]
Chr4:126371861 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.5347G>A (p.Ala1783Thr) single nucleotide variant not provided [RCV000498006] Chr4:125406919 [GRCh38]
Chr4:126328074 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.7196T>C (p.Ile2399Thr) single nucleotide variant not provided [RCV000493492] Chr4:125434422 [GRCh38]
Chr4:126355577 [GRCh37]
Chr4:4q28.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_001291303.3(FAT4):c.8078C>T (p.Ser2693Leu) single nucleotide variant FAT4-related disorder [RCV004751566]|not provided [RCV000766651]|not specified [RCV000493812] Chr4:125449088 [GRCh38]
Chr4:126370243 [GRCh37]
Chr4:4q28.1		 uncertain significance
GRCh37/hg19 4q25-35.2(chr4:109199664-189752726)x3 copy number gain See cases [RCV000511945] Chr4:109199664..189752726 [GRCh37]
Chr4:4q25-35.2		 pathogenic
NM_001291303.3(FAT4):c.8332A>G (p.Ile2778Val) single nucleotide variant not provided [RCV000492988] Chr4:125449342 [GRCh38]
Chr4:126370497 [GRCh37]
Chr4:4q28.1		 uncertain significance
GRCh37/hg19 4q22.1-35.2(chr4:93071152-190957473)x3 copy number gain See cases [RCV000510970] Chr4:93071152..190957473 [GRCh37]
Chr4:4q22.1-35.2		 pathogenic
NM_001291303.3(FAT4):c.9379A>G (p.Lys3127Glu) single nucleotide variant Inborn genetic diseases [RCV003255700] Chr4:125450389 [GRCh38]
Chr4:126371544 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.14431G>A (p.Asp4811Asn) single nucleotide variant Inborn genetic diseases [RCV003240024] Chr4:125491247 [GRCh38]
Chr4:126412402 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.3351G>A (p.Ser1117=) single nucleotide variant not provided [RCV002066534]|not specified [RCV000601939] Chr4:125319762 [GRCh38]
Chr4:126240917 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.12543T>A (p.Asp4181Glu) single nucleotide variant Inborn genetic diseases [RCV003277492] Chr4:125479804 [GRCh38]
Chr4:126400959 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.1099G>A (p.Val367Ile) single nucleotide variant FAT4-related disorder [RCV003928818]|Inborn genetic diseases [RCV002537935]|not provided [RCV001760325] Chr4:125317510 [GRCh38]
Chr4:126238665 [GRCh37]
Chr4:4q28.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_001291303.3(FAT4):c.7593C>T (p.Asn2531=) single nucleotide variant not provided [RCV002063200]|not specified [RCV000605599] Chr4:125448603 [GRCh38]
Chr4:126369758 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.5884A>T (p.Thr1962Ser) single nucleotide variant Inborn genetic diseases [RCV000623360] Chr4:125408758 [GRCh38]
Chr4:126329913 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.2316A>G (p.Gln772=) single nucleotide variant FAT4-related disorder [RCV003953015]|not provided [RCV000951073] Chr4:125318727 [GRCh38]
Chr4:126239882 [GRCh37]
Chr4:4q28.1		 benign|likely benign
NM_001291303.3(FAT4):c.785A>G (p.Asp262Gly) single nucleotide variant Inborn genetic diseases [RCV003261899] Chr4:125317196 [GRCh38]
Chr4:126238351 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.4352T>C (p.Ile1451Thr) single nucleotide variant Inborn genetic diseases [RCV003286238] Chr4:125320763 [GRCh38]
Chr4:126241918 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.11219G>C (p.Ser3740Thr) single nucleotide variant Inborn genetic diseases [RCV003277199] Chr4:125452229 [GRCh38]
Chr4:126373384 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.11693C>T (p.Ala3898Val) single nucleotide variant Ascites [RCV000735353]|FAT4-related disorder [RCV003928005]|not provided [RCV001520231] Chr4:125452703 [GRCh38]
Chr4:126373858 [GRCh37]
Chr4:4q28.1		 benign|likely benign
NM_001291303.3(FAT4):c.3294T>A (p.Pro1098=) single nucleotide variant FAT4-related disorder [RCV003935668]|not provided [RCV000961045] Chr4:125319705 [GRCh38]
Chr4:126240860 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.913A>T (p.Ile305Phe) single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 1 [RCV000626214] Chr4:125317324 [GRCh38]
Chr4:126238479 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.11358A>G (p.Glu3786=) single nucleotide variant not provided [RCV003767724]|not specified [RCV000609919] Chr4:125452368 [GRCh38]
Chr4:126373523 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.14388G>A (p.Arg4796=) single nucleotide variant not provided [RCV001402132] Chr4:125491204 [GRCh38]
Chr4:126412359 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.6287A>G (p.Lys2096Arg) single nucleotide variant Inborn genetic diseases [RCV003292493] Chr4:125415250 [GRCh38]
Chr4:126336405 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.10107A>G (p.Glu3369=) single nucleotide variant not provided [RCV000908163] Chr4:125451117 [GRCh38]
Chr4:126372272 [GRCh37]
Chr4:4q28.1		 benign|likely benign
NM_001291303.3(FAT4):c.9876G>A (p.Gly3292=) single nucleotide variant not provided [RCV000881200]|not specified [RCV000602404] Chr4:125450886 [GRCh38]
Chr4:126372041 [GRCh37]
Chr4:4q28.1		 benign
NM_001291303.3(FAT4):c.5921-14C>T single nucleotide variant not provided [RCV001523604]|not specified [RCV000610675] Chr4:125414870 [GRCh38]
Chr4:126336025 [GRCh37]
Chr4:4q28.1		 benign|likely benign
NM_001291303.3(FAT4):c.1959C>T (p.Ala653=) single nucleotide variant not provided [RCV002064310]|not specified [RCV000616801] Chr4:125318370 [GRCh38]
Chr4:126239525 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.8842A>G (p.Ile2948Val) single nucleotide variant not provided [RCV000881199]|not specified [RCV000613836] Chr4:125449852 [GRCh38]
Chr4:126371007 [GRCh37]
Chr4:4q28.1		 benign
NM_001291303.3(FAT4):c.10158A>G (p.Ala3386=) single nucleotide variant FAT4-related disorder [RCV003905580]|not provided [RCV000971277]|not specified [RCV000608395] Chr4:125451168 [GRCh38]
Chr4:126372323 [GRCh37]
Chr4:4q28.1		 benign
NM_001291303.3(FAT4):c.4937C>T (p.Thr1646Ile) single nucleotide variant Inborn genetic diseases [RCV003268150] Chr4:125321348 [GRCh38]
Chr4:126242503 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.4542C>T (p.Asn1514=) single nucleotide variant not provided [RCV002064144]|not specified [RCV000614474] Chr4:125320953 [GRCh38]
Chr4:126242108 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.8470C>A (p.Pro2824Thr) single nucleotide variant Inborn genetic diseases [RCV003277071] Chr4:125449480 [GRCh38]
Chr4:126370635 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.12927T>C (p.Phe4309=) single nucleotide variant not specified [RCV000614610] Chr4:125487449 [GRCh38]
Chr4:126408604 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.12299+6G>C single nucleotide variant not specified [RCV000604069] Chr4:125476262 [GRCh38]
Chr4:126397417 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.7813A>G (p.Ile2605Val) single nucleotide variant FAT4-related disorder [RCV003905658]|not provided [RCV000898300]|not specified [RCV001821752] Chr4:125448823 [GRCh38]
Chr4:126369978 [GRCh37]
Chr4:4q28.1		 likely benign|uncertain significance
NM_001291303.3(FAT4):c.13525G>C (p.Ala4509Pro) single nucleotide variant Van Maldergem syndrome 2 [RCV000625816] Chr4:125490341 [GRCh38]
Chr4:126411496 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.5308-19G>A single nucleotide variant not provided [RCV002065337]|not specified [RCV000600274] Chr4:125406861 [GRCh38]
Chr4:126328016 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.6733G>A (p.Val2245Ile) single nucleotide variant FAT4-related disorder [RCV003902823]|not provided [RCV000514037] Chr4:125415696 [GRCh38]
Chr4:126336851 [GRCh37]
Chr4:4q28.1		 benign|likely benign
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3 copy number gain See cases [RCV000512241] Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
NM_001291303.3(FAT4):c.12131G>A (p.Gly4044Asp) single nucleotide variant Inborn genetic diseases [RCV000622487]|not provided [RCV001868148] Chr4:125468737 [GRCh38]
Chr4:126389892 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.12506C>T (p.Thr4169Ile) single nucleotide variant not provided [RCV000948284]|not specified [RCV000600910] Chr4:125479767 [GRCh38]
Chr4:126400922 [GRCh37]
Chr4:4q28.1		 benign
NM_001291303.3(FAT4):c.4745G>A (p.Gly1582Glu) single nucleotide variant Inborn genetic diseases [RCV000623109] Chr4:125321156 [GRCh38]
Chr4:126242311 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.9233A>G (p.His3078Arg) single nucleotide variant not provided [RCV003690632] Chr4:125450243 [GRCh38]
Chr4:126371398 [GRCh37]
Chr4:4q28.1		 uncertain significance
GRCh37/hg19 4q26-28.2(chr4:116307857-129302960)x1 copy number loss not provided [RCV000682448] Chr4:116307857..129302960 [GRCh37]
Chr4:4q26-28.2		 pathogenic
NM_001291303.3(FAT4):c.13399G>A (p.Val4467Met) single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 1 [RCV000714818]|Van Maldergem syndrome 2 [RCV000714817] Chr4:125490215 [GRCh38]
Chr4:126411370 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.7267G>A (p.Ala2423Thr) single nucleotide variant not provided [RCV001868337]|not specified [RCV000714572] Chr4:125446360 [GRCh38]
Chr4:126367515 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.13058A>G (p.Asn4353Ser) single nucleotide variant not provided [RCV001964111] Chr4:125487580 [GRCh38]
Chr4:126408735 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.6905G>A (p.Gly2302Asp) single nucleotide variant not provided [RCV001964155] Chr4:125416509 [GRCh38]
Chr4:126337664 [GRCh37]
Chr4:4q28.1		 uncertain significance
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190915650)x3 copy number gain not provided [RCV000743155] Chr4:49450..190915650 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4q28.1-28.3(chr4:124282603-134014299)x1 copy number loss not provided [RCV000743955] Chr4:124282603..134014299 [GRCh37]
Chr4:4q28.1-28.3		 pathogenic
GRCh37/hg19 4q28.1(chr4:126249455-126308835)x3 copy number gain not provided [RCV000743959] Chr4:126249455..126308835 [GRCh37]
Chr4:4q28.1		 benign
GRCh37/hg19 4q28.1(chr4:126249455-126333397)x3 copy number gain not provided [RCV000743960] Chr4:126249455..126333397 [GRCh37]
Chr4:4q28.1		 benign
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190963766)x3 copy number gain not provided [RCV000743156] Chr4:49450..190963766 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:11525-191028879)x3 copy number gain not provided [RCV000743147] Chr4:11525..191028879 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
NM_001291303.3(FAT4):c.173G>T (p.Gly58Val) single nucleotide variant not provided [RCV001531593] Chr4:125316584 [GRCh38]
Chr4:126237739 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.12299+52T>C single nucleotide variant not provided [RCV001540686] Chr4:125476308 [GRCh38]
Chr4:126397463 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.5553T>G (p.Pro1851=) single nucleotide variant not provided [RCV001583101] Chr4:125407125 [GRCh38]
Chr4:126328280 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.12213+128A>G single nucleotide variant not provided [RCV001692492] Chr4:125468947 [GRCh38]
Chr4:126390102 [GRCh37]
Chr4:4q28.1		 benign
NM_001291303.3(FAT4):c.12479+211AT[9] microsatellite not provided [RCV001665981] Chr4:125477545..125477546 [GRCh38]
Chr4:126398700..126398701 [GRCh37]
Chr4:4q28.1		 benign
NM_001291303.3(FAT4):c.11801-128T>C single nucleotide variant not provided [RCV001584812] Chr4:125463435 [GRCh38]
Chr4:126384590 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.12604+62C>T single nucleotide variant not provided [RCV001648357] Chr4:125479927 [GRCh38]
Chr4:126401082 [GRCh37]
Chr4:4q28.1		 benign
NM_001291303.3(FAT4):c.11380C>T (p.Arg3794Trp) single nucleotide variant FAT4-related disorder [RCV003434312]|Inborn genetic diseases [RCV002573321]|not provided [RCV001583665] Chr4:125452390 [GRCh38]
Chr4:126373545 [GRCh37]
Chr4:4q28.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_001291303.3(FAT4):c.14304A>G (p.Pro4768=) single nucleotide variant not provided [RCV000894954] Chr4:125491120 [GRCh38]
Chr4:126412275 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.5808T>C (p.Asp1936=) single nucleotide variant not provided [RCV000917485] Chr4:125408682 [GRCh38]
Chr4:126329837 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.13144G>A (p.Gly4382Arg) single nucleotide variant Inborn genetic diseases [RCV002570678]|not provided [RCV001548063] Chr4:125489960 [GRCh38]
Chr4:126411115 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.1289G>A (p.Arg430His) single nucleotide variant Inborn genetic diseases [RCV002579448]|not provided [RCV001585427] Chr4:125317700 [GRCh38]
Chr4:126238855 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.11800+1G>T single nucleotide variant Van Maldergem syndrome 2 [RCV000761486] Chr4:125452811 [GRCh38]
Chr4:126373966 [GRCh37]
Chr4:4q28.1		 pathogenic
NM_001291303.3(FAT4):c.4526G>A (p.Arg1509Gln) single nucleotide variant not provided [RCV000762139] Chr4:125320937 [GRCh38]
Chr4:126242092 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.9156C>A (p.Asp3052Glu) single nucleotide variant not provided [RCV000762140]|not specified [RCV003396330] Chr4:125450166 [GRCh38]
Chr4:126371321 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.5176-31C>T single nucleotide variant not provided [RCV001571633] Chr4:125398753 [GRCh38]
Chr4:126319908 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.7018+1G>A single nucleotide variant Van Maldergem syndrome 2 [RCV001580580] Chr4:125416623 [GRCh38]
Chr4:126337778 [GRCh37]
Chr4:4q28.1		 pathogenic
NM_001291303.3(FAT4):c.6843+29G>T single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 2 [RCV001703300]|Van Maldergem syndrome 2 [RCV001703299]|not provided [RCV001713689]|not specified [RCV003487732] Chr4:125415835 [GRCh38]
Chr4:126336990 [GRCh37]
Chr4:4q28.1		 benign
NM_001291303.3(FAT4):c.14362G>A (p.Gly4788Arg) single nucleotide variant not provided [RCV001665155] Chr4:125491178 [GRCh38]
Chr4:126412333 [GRCh37]
Chr4:4q28.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_001291303.3(FAT4):c.12480-119del deletion not provided [RCV001609091] Chr4:125479621 [GRCh38]
Chr4:126400776 [GRCh37]
Chr4:4q28.1		 benign
NM_001291303.3(FAT4):c.5920+260G>A single nucleotide variant not provided [RCV001567264] Chr4:125409054 [GRCh38]
Chr4:126330209 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.12358A>G (p.Ile4120Val) single nucleotide variant not provided [RCV001552309] Chr4:125477213 [GRCh38]
Chr4:126398368 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.5921-23T>A single nucleotide variant not provided [RCV001575822] Chr4:125414861 [GRCh38]
Chr4:126336016 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.6844-291T>C single nucleotide variant not provided [RCV001576128] Chr4:125416157 [GRCh38]
Chr4:126337312 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.8290A>C (p.Asn2764His) single nucleotide variant Inborn genetic diseases [RCV002549084]|not provided [RCV000998294] Chr4:125449300 [GRCh38]
Chr4:126370455 [GRCh37]
Chr4:4q28.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_001291303.3(FAT4):c.7053C>T (p.Asn2351=) single nucleotide variant not provided [RCV000883174] Chr4:125434279 [GRCh38]
Chr4:126355434 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.14159C>G (p.Ala4720Gly) single nucleotide variant FAT4-related disorder [RCV003936082]|not provided [RCV000969485] Chr4:125490975 [GRCh38]
Chr4:126412130 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.3153A>G (p.Gln1051=) single nucleotide variant not provided [RCV000943293] Chr4:125319564 [GRCh38]
Chr4:126240719 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.12144T>C (p.Tyr4048=) single nucleotide variant not provided [RCV000925646] Chr4:125468750 [GRCh38]
Chr4:126389905 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.5229C>T (p.Asp1743=) single nucleotide variant not provided [RCV000906956] Chr4:125398837 [GRCh38]
Chr4:126319992 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.12777C>T (p.Gly4259=) single nucleotide variant not provided [RCV000925876] Chr4:125481693 [GRCh38]
Chr4:126402848 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.12479+8G>A single nucleotide variant not provided [RCV000970301]|not specified [RCV001819105] Chr4:125477342 [GRCh38]
Chr4:126398497 [GRCh37]
Chr4:4q28.1		 benign|likely benign
NM_001291303.3(FAT4):c.7947T>G (p.Pro2649=) single nucleotide variant not provided [RCV000905760] Chr4:125448957 [GRCh38]
Chr4:126370112 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.5308-9T>C single nucleotide variant FAT4-related disorder [RCV003943253]|not provided [RCV000975969] Chr4:125406871 [GRCh38]
Chr4:126328026 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.11694G>A (p.Ala3898=) single nucleotide variant not provided [RCV000922152] Chr4:125452704 [GRCh38]
Chr4:126373859 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.5883T>C (p.Ser1961=) single nucleotide variant FAT4-related disorder [RCV003923035]|not provided [RCV000904184] Chr4:125408757 [GRCh38]
Chr4:126329912 [GRCh37]
Chr4:4q28.1		 benign
NM_001291303.3(FAT4):c.7266C>T (p.Ser2422=) single nucleotide variant FAT4-related disorder [RCV003950540]|not provided [RCV000899858] Chr4:125446359 [GRCh38]
Chr4:126367514 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.129C>G (p.Ala43=) single nucleotide variant not provided [RCV000937520] Chr4:125316540 [GRCh38]
Chr4:126237695 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.1107G>A (p.Glu369=) single nucleotide variant not provided [RCV000982997] Chr4:125317518 [GRCh38]
Chr4:126238673 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.13461G>C (p.Ala4487=) single nucleotide variant not provided [RCV000903015] Chr4:125490277 [GRCh38]
Chr4:126411432 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.10395C>T (p.Thr3465=) single nucleotide variant not provided [RCV000884710]|not specified [RCV003479237] Chr4:125451405 [GRCh38]
Chr4:126372560 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.2886C>T (p.Tyr962=) single nucleotide variant not provided [RCV000922636] Chr4:125319297 [GRCh38]
Chr4:126240452 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.9975C>T (p.Ser3325=) single nucleotide variant not provided [RCV000900256] Chr4:125450985 [GRCh38]
Chr4:126372140 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.1299C>G (p.Ser433=) single nucleotide variant FAT4-related disorder [RCV003975342]|not provided [RCV000828378] Chr4:125317710 [GRCh38]
Chr4:126238865 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.5569+266T>C single nucleotide variant not provided [RCV000826912] Chr4:125407407 [GRCh38]
Chr4:126328562 [GRCh37]
Chr4:4q28.1		 benign
NM_001291303.3(FAT4):c.1845C>T (p.Asn615=) single nucleotide variant FAT4-related disorder [RCV003960422]|not provided [RCV000923560] Chr4:125318256 [GRCh38]
Chr4:126239411 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.12713C>T (p.Ala4238Val) single nucleotide variant not provided [RCV000926544] Chr4:125481629 [GRCh38]
Chr4:126402784 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.10935G>T (p.Val3645=) single nucleotide variant not provided [RCV000941724] Chr4:125451945 [GRCh38]
Chr4:126373100 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.12822+7T>C single nucleotide variant not provided [RCV000895942] Chr4:125481745 [GRCh38]
Chr4:126402900 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.1855C>T (p.Arg619Cys) single nucleotide variant FAT4-related disorder [RCV003955800]|not provided [RCV000880020] Chr4:125318266 [GRCh38]
Chr4:126239421 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.3658T>A (p.Ser1220Thr) single nucleotide variant FAT4-related disorder [RCV003903048]|not provided [RCV000924886] Chr4:125320069 [GRCh38]
Chr4:126241224 [GRCh37]
Chr4:4q28.1		 benign|likely benign
NM_001291303.3(FAT4):c.6210C>T (p.Phe2070=) single nucleotide variant not provided [RCV000932089] Chr4:125415173 [GRCh38]
Chr4:126336328 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.13347C>T (p.Ser4449=) single nucleotide variant not provided [RCV000899377] Chr4:125490163 [GRCh38]
Chr4:126411318 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.8205G>A (p.Arg2735=) single nucleotide variant not provided [RCV000916968] Chr4:125449215 [GRCh38]
Chr4:126370370 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.2343C>T (p.Ile781=) single nucleotide variant not provided [RCV000978421] Chr4:125318754 [GRCh38]
Chr4:126239909 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.13305C>T (p.His4435=) single nucleotide variant not provided [RCV000939512] Chr4:125490121 [GRCh38]
Chr4:126411276 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.9627C>T (p.Ala3209=) single nucleotide variant not provided [RCV000916172] Chr4:125450637 [GRCh38]
Chr4:126371792 [GRCh37]
Chr4:4q28.1		 benign|likely benign
NM_001291303.3(FAT4):c.12605-58C>T single nucleotide variant not provided [RCV000841594]|not specified [RCV003489936] Chr4:125481463 [GRCh38]
Chr4:126402618 [GRCh37]
Chr4:4q28.1		 benign
NM_001291303.3(FAT4):c.5307+40T>C single nucleotide variant not provided [RCV000839830] Chr4:125398955 [GRCh38]
Chr4:126320110 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.5176-82C>T single nucleotide variant not provided [RCV000839875] Chr4:125398702 [GRCh38]
Chr4:126319857 [GRCh37]
Chr4:4q28.1		 benign
NM_001291303.3(FAT4):c.7019-230T>G single nucleotide variant not provided [RCV000839877] Chr4:125434015 [GRCh38]
Chr4:126355170 [GRCh37]
Chr4:4q28.1		 benign
NM_001291303.3(FAT4):c.11801-123C>T single nucleotide variant not provided [RCV000839881] Chr4:125463440 [GRCh38]
Chr4:126384595 [GRCh37]
Chr4:4q28.1		 benign
NM_001291303.3(FAT4):c.11905+83A>C single nucleotide variant not provided [RCV000839882]|not specified [RCV003489932] Chr4:125463750 [GRCh38]
Chr4:126384905 [GRCh37]
Chr4:4q28.1		 benign
NM_001291303.3(FAT4):c.12213+207C>T single nucleotide variant not provided [RCV000839883] Chr4:125469026 [GRCh38]
Chr4:126390181 [GRCh37]
Chr4:4q28.1		 benign
NM_001291303.3(FAT4):c.13084+219A>T single nucleotide variant not provided [RCV000839893] Chr4:125487825 [GRCh38]
Chr4:126408980 [GRCh37]
Chr4:4q28.1		 benign
NM_001291303.3(FAT4):c.6700C>T (p.Arg2234Ter) single nucleotide variant Van Maldergem syndrome [RCV000825521]|not provided [RCV003736915] Chr4:125415663 [GRCh38]
Chr4:126336818 [GRCh37]
Chr4:4q28.1		 pathogenic|likely pathogenic
NM_001291303.3(FAT4):c.1794A>G (p.Thr598=) single nucleotide variant not provided [RCV000975240] Chr4:125318205 [GRCh38]
Chr4:126239360 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.13111A>G (p.Met4371Val) single nucleotide variant FAT4-related disorder [RCV003943246]|Inborn genetic diseases [RCV002548394]|not provided [RCV000975251] Chr4:125489927 [GRCh38]
Chr4:126411082 [GRCh37]
Chr4:4q28.1		 benign|likely benign
NM_001291303.3(FAT4):c.7450+288C>T single nucleotide variant not provided [RCV000826914] Chr4:125446831 [GRCh38]
Chr4:126367986 [GRCh37]
Chr4:4q28.1		 benign
NM_001291303.3(FAT4):c.4773G>A (p.Val1591=) single nucleotide variant not provided [RCV000893192] Chr4:125321184 [GRCh38]
Chr4:126242339 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.739C>T (p.Pro247Ser) single nucleotide variant not provided [RCV000998291] Chr4:125317150 [GRCh38]
Chr4:126238305 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.8280A>C (p.Lys2760Asn) single nucleotide variant not provided [RCV000998293] Chr4:125449290 [GRCh38]
Chr4:126370445 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.14841T>A (p.Asp4947Glu) single nucleotide variant not provided [RCV000998296] Chr4:125491657 [GRCh38]
Chr4:126412812 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.10390A>G (p.Ile3464Val) single nucleotide variant FAT4-related disorder [RCV003928305]|not provided [RCV000838654] Chr4:125451400 [GRCh38]
Chr4:126372555 [GRCh37]
Chr4:4q28.1		 likely benign|conflicting interpretations of pathogenicity
NM_001291303.3(FAT4):c.9083A>G (p.Asp3028Gly) single nucleotide variant not provided [RCV000842483] Chr4:125450093 [GRCh38]
Chr4:126371248 [GRCh37]
Chr4:4q28.1		 benign|likely benign
NM_001291303.3(FAT4):c.12822+28T>G single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 2 [RCV001702733]|Van Maldergem syndrome 2 [RCV001703240]|not provided [RCV000839890]|not specified [RCV003489933] Chr4:125481766 [GRCh38]
Chr4:126402921 [GRCh37]
Chr4:4q28.1		 benign
NM_001291303.3(FAT4):c.-13+109A>G single nucleotide variant not provided [RCV000829067] Chr4:125316086 [GRCh38]
Chr4:126237241 [GRCh37]
Chr4:4q28.1		 benign
NM_001291303.3(FAT4):c.12214-72G>A single nucleotide variant not provided [RCV000837031] Chr4:125476099 [GRCh38]
Chr4:126397254 [GRCh37]
Chr4:4q28.1		 benign
NM_001291303.3(FAT4):c.2322C>T (p.Pro774=) single nucleotide variant not provided [RCV000840252] Chr4:125318733 [GRCh38]
Chr4:126239888 [GRCh37]
Chr4:4q28.1		 benign|likely benign
NM_001291303.3(FAT4):c.14935G>A (p.Ala4979Thr) single nucleotide variant Van Maldergem syndrome 2 [RCV002501171]|not provided [RCV000840253] Chr4:125491751 [GRCh38]
Chr4:126412906 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.7199+264T>A single nucleotide variant not provided [RCV000826913] Chr4:125434689 [GRCh38]
Chr4:126355844 [GRCh37]
Chr4:4q28.1		 benign
NM_001291303.3(FAT4):c.12214-270C>T single nucleotide variant not provided [RCV000826915] Chr4:125475901 [GRCh38]
Chr4:126397056 [GRCh37]
Chr4:4q28.1		 benign
NM_001291303.3(FAT4):c.12604+306T>C single nucleotide variant not provided [RCV000826916] Chr4:125480171 [GRCh38]
Chr4:126401326 [GRCh37]
Chr4:4q28.1		 benign
GRCh37/hg19 4q28.1(chr4:125111554-126603039)x3 copy number gain not provided [RCV000849821] Chr4:125111554..126603039 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.2919C>T (p.Val973=) single nucleotide variant Van Maldergem syndrome 2 [RCV002478940]|not provided [RCV000830105] Chr4:125319330 [GRCh38]
Chr4:126240485 [GRCh37]
Chr4:4q28.1		 benign
NM_001291303.3(FAT4):c.5792A>G (p.Tyr1931Cys) single nucleotide variant Inborn genetic diseases [RCV002554830]|not provided [RCV001091381] Chr4:125408666 [GRCh38]
Chr4:126329821 [GRCh37]
Chr4:4q28.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_001291303.3(FAT4):c.8417A>C (p.Asn2806Thr) single nucleotide variant not provided [RCV001091382] Chr4:125449427 [GRCh38]
Chr4:126370582 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.6844-276C>G single nucleotide variant not provided [RCV000831121] Chr4:125416172 [GRCh38]
Chr4:126337327 [GRCh37]
Chr4:4q28.1		 benign
GRCh37/hg19 4q28.1-35.1(chr4:124873497-185278662)x3 copy number gain not provided [RCV000849686] Chr4:124873497..185278662 [GRCh37]
Chr4:4q28.1-35.1		 pathogenic
NM_001291303.3(FAT4):c.14577G>A (p.Arg4859=) single nucleotide variant not provided [RCV000827344] Chr4:125491393 [GRCh38]
Chr4:126412548 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.13652A>G (p.Lys4551Arg) single nucleotide variant not provided [RCV003238984] Chr4:125490468 [GRCh38]
Chr4:126411623 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.10224A>G (p.Leu3408=) single nucleotide variant not provided [RCV000894891] Chr4:125451234 [GRCh38]
Chr4:126372389 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.8055C>T (p.Ser2685=) single nucleotide variant FAT4-related disorder [RCV003968188]|not provided [RCV000895646] Chr4:125449065 [GRCh38]
Chr4:126370220 [GRCh37]
Chr4:4q28.1		 benign|likely benign
NM_001291303.3(FAT4):c.13084+227G>C single nucleotide variant not provided [RCV000841641] Chr4:125487833 [GRCh38]
Chr4:126408988 [GRCh37]
Chr4:4q28.1		 benign
NM_001291303.3(FAT4):c.7451-62C>T single nucleotide variant not provided [RCV000841739] Chr4:125448399 [GRCh38]
Chr4:126369554 [GRCh37]
Chr4:4q28.1		 benign
NM_001291303.3(FAT4):c.11670C>T (p.Cys3890=) single nucleotide variant not provided [RCV000842210] Chr4:125452680 [GRCh38]
Chr4:126373835 [GRCh37]
Chr4:4q28.1		 benign|likely benign
NM_001291303.3(FAT4):c.4941C>T (p.Asn1647=) single nucleotide variant FAT4-related disorder [RCV003892772]|not provided [RCV000842439] Chr4:125321352 [GRCh38]
Chr4:126242507 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.185G>C (p.Gly62Ala) single nucleotide variant FAT4-related disorder [RCV003965623]|Van Maldergem syndrome 2 [RCV002053128]|not provided [RCV000839511] Chr4:125316596 [GRCh38]
Chr4:126237751 [GRCh37]
Chr4:4q28.1		 likely benign|uncertain significance
NM_001291303.3(FAT4):c.10679T>G (p.Phe3560Cys) single nucleotide variant not provided [RCV001889094] Chr4:125451689 [GRCh38]
Chr4:126372844 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.3212T>C (p.Val1071Ala) single nucleotide variant Van Maldergem syndrome 2 [RCV000987470]|not provided [RCV001453789] Chr4:125319623 [GRCh38]
Chr4:126240778 [GRCh37]
Chr4:4q28.1		 likely benign|uncertain significance
NM_001291303.3(FAT4):c.13179T>C (p.Asp4393=) single nucleotide variant not provided [RCV000914868] Chr4:125489995 [GRCh38]
Chr4:126411150 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.4543G>A (p.Val1515Met) single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 2 [RCV003458223]|not provided [RCV001171741] Chr4:125320954 [GRCh38]
Chr4:126242109 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.8162A>G (p.Asn2721Ser) single nucleotide variant not provided [RCV000998292] Chr4:125449172 [GRCh38]
Chr4:126370327 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.8723A>G (p.Gln2908Arg) single nucleotide variant Inborn genetic diseases [RCV003272173] Chr4:125449733 [GRCh38]
Chr4:126370888 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.14496G>T (p.Ala4832=) single nucleotide variant not provided [RCV003104488] Chr4:125491312 [GRCh38]
Chr4:126412467 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.3270A>G (p.Leu1090=) single nucleotide variant not provided [RCV003106537] Chr4:125319681 [GRCh38]
Chr4:126240836 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.11815T>C (p.Ser3939Pro) single nucleotide variant not provided [RCV003127038] Chr4:125463577 [GRCh38]
Chr4:126384732 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.104C>T (p.Pro35Leu) single nucleotide variant not provided [RCV003106403] Chr4:125316515 [GRCh38]
Chr4:126237670 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.4110G>A (p.Gly1370=) single nucleotide variant not provided [RCV003104511] Chr4:125320521 [GRCh38]
Chr4:126241676 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.10024A>C (p.Asn3342His) single nucleotide variant not provided [RCV001564518] Chr4:125451034 [GRCh38]
Chr4:126372189 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.12605-165A>G single nucleotide variant not provided [RCV001569917] Chr4:125481356 [GRCh38]
Chr4:126402511 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.5176-167G>T single nucleotide variant not provided [RCV001684215] Chr4:125398617 [GRCh38]
Chr4:126319772 [GRCh37]
Chr4:4q28.1		 benign
NM_001291303.3(FAT4):c.7199+155A>G single nucleotide variant not provided [RCV001673823] Chr4:125434580 [GRCh38]
Chr4:126355735 [GRCh37]
Chr4:4q28.1		 benign
NM_001291303.3(FAT4):c.7200-312T>A single nucleotide variant not provided [RCV001560326] Chr4:125445981 [GRCh38]
Chr4:126367136 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.5921-122C>T single nucleotide variant not provided [RCV001560431] Chr4:125414762 [GRCh38]
Chr4:126335917 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.12479+228_12479+231dup duplication not provided [RCV001668037] Chr4:125477561..125477562 [GRCh38]
Chr4:126398716..126398717 [GRCh37]
Chr4:4q28.1		 benign
NM_001291303.3(FAT4):c.14169G>T (p.Leu4723Phe) single nucleotide variant not provided [RCV001555046] Chr4:125490985 [GRCh38]
Chr4:126412140 [GRCh37]
Chr4:4q28.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_001291303.3(FAT4):c.2903C>T (p.Ala968Val) single nucleotide variant not provided [RCV001550123] Chr4:125319314 [GRCh38]
Chr4:126240469 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.12716T>C (p.Met4239Thr) single nucleotide variant not provided [RCV001561071] Chr4:125481632 [GRCh38]
Chr4:126402787 [GRCh37]
Chr4:4q28.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_001291303.3(FAT4):c.12479+228_12479+229insGT insertion not provided [RCV001638889] Chr4:125477561..125477562 [GRCh38]
Chr4:126398716..126398717 [GRCh37]
Chr4:4q28.1		 benign
NM_001291303.3(FAT4):c.12479+211AT[8] microsatellite not provided [RCV001637292] Chr4:125477545..125477548 [GRCh38]
Chr4:126398700..126398703 [GRCh37]
Chr4:4q28.1		 benign
NM_001291303.3(FAT4):c.12214-268C>T single nucleotide variant not provided [RCV001638376] Chr4:125475903 [GRCh38]
Chr4:126397058 [GRCh37]
Chr4:4q28.1		 benign
NM_001291303.3(FAT4):c.2158A>G (p.Thr720Ala) single nucleotide variant Inborn genetic diseases [RCV003246991]|not provided [RCV001586455] Chr4:125318569 [GRCh38]
Chr4:126239724 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.12342C>G (p.Ile4114Met) single nucleotide variant not provided [RCV001557424] Chr4:125477197 [GRCh38]
Chr4:126398352 [GRCh37]
Chr4:4q28.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_001291303.3(FAT4):c.12842A>C (p.Tyr4281Ser) single nucleotide variant not provided [RCV001907593] Chr4:125487364 [GRCh38]
Chr4:126408519 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.11205T>G (p.Phe3735Leu) single nucleotide variant not provided [RCV001557641] Chr4:125452215 [GRCh38]
Chr4:126373370 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.11080A>G (p.Thr3694Ala) single nucleotide variant Inborn genetic diseases [RCV004039328]|not provided [RCV001562876] Chr4:125452090 [GRCh38]
Chr4:126373245 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.11905+228A>G single nucleotide variant not provided [RCV001639943] Chr4:125463895 [GRCh38]
Chr4:126385050 [GRCh37]
Chr4:4q28.1		 benign
NM_001291303.3(FAT4):c.11801-285T>C single nucleotide variant not provided [RCV001568075] Chr4:125463278 [GRCh38]
Chr4:126384433 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.5176-276A>G single nucleotide variant not provided [RCV001710826] Chr4:125398508 [GRCh38]
Chr4:126319663 [GRCh37]
Chr4:4q28.1		 benign
NM_001291303.3(FAT4):c.5920+118A>C single nucleotide variant not provided [RCV001566478] Chr4:125408912 [GRCh38]
Chr4:126330067 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.12299+100G>A single nucleotide variant not provided [RCV001678878] Chr4:125476356 [GRCh38]
Chr4:126397511 [GRCh37]
Chr4:4q28.1		 benign
NM_001291303.3(FAT4):c.8450G>T (p.Ser2817Ile) single nucleotide variant Inborn genetic diseases [RCV003276080] Chr4:125449460 [GRCh38]
Chr4:126370615 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.13965G>A (p.Arg4655=) single nucleotide variant not provided [RCV000918767] Chr4:125490781 [GRCh38]
Chr4:126411936 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.13548C>T (p.Thr4516=) single nucleotide variant FAT4-related disorder [RCV003913146]|not provided [RCV000930288] Chr4:125490364 [GRCh38]
Chr4:126411519 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.10689C>T (p.Ser3563=) single nucleotide variant not provided [RCV000910633] Chr4:125451699 [GRCh38]
Chr4:126372854 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.11256G>A (p.Leu3752=) single nucleotide variant not provided [RCV000910634] Chr4:125452266 [GRCh38]
Chr4:126373421 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.761A>T (p.His254Leu) single nucleotide variant Inborn genetic diseases [RCV002540759]|not provided [RCV000907181] Chr4:125317172 [GRCh38]
Chr4:126238327 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.2286A>G (p.Gln762=) single nucleotide variant not provided [RCV000883779] Chr4:125318697 [GRCh38]
Chr4:126239852 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.3120A>G (p.Thr1040=) single nucleotide variant not provided [RCV000931843] Chr4:125319531 [GRCh38]
Chr4:126240686 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.4599C>T (p.Asn1533=) single nucleotide variant not provided [RCV000919131] Chr4:125321010 [GRCh38]
Chr4:126242165 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.1956A>G (p.Gln652=) single nucleotide variant not provided [RCV000916967] Chr4:125318367 [GRCh38]
Chr4:126239522 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.1254C>T (p.Ser418=) single nucleotide variant not provided [RCV000931180] Chr4:125317665 [GRCh38]
Chr4:126238820 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.2883C>T (p.Ser961=) single nucleotide variant not provided [RCV000931197] Chr4:125319294 [GRCh38]
Chr4:126240449 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.14940A>G (p.Glu4980=) single nucleotide variant not provided [RCV000908700] Chr4:125491756 [GRCh38]
Chr4:126412911 [GRCh37]
Chr4:4q28.1		 benign|likely benign
NM_001291303.3(FAT4):c.12321T>C (p.Asn4107=) single nucleotide variant not provided [RCV000923895] Chr4:125477176 [GRCh38]
Chr4:126398331 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.7080T>C (p.Asn2360=) single nucleotide variant not provided [RCV000903944] Chr4:125434306 [GRCh38]
Chr4:126355461 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.12300-10A>G single nucleotide variant not provided [RCV000978866] Chr4:125477145 [GRCh38]
Chr4:126398300 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.10227C>T (p.Asn3409=) single nucleotide variant not provided [RCV000910780] Chr4:125451237 [GRCh38]
Chr4:126372392 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.2475C>T (p.Asn825=) single nucleotide variant not provided [RCV000894992] Chr4:125318886 [GRCh38]
Chr4:126240041 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.1608C>T (p.Ser536=) single nucleotide variant not provided [RCV000880068] Chr4:125318019 [GRCh38]
Chr4:126239174 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.10095A>G (p.Arg3365=) single nucleotide variant not provided [RCV000887670] Chr4:125451105 [GRCh38]
Chr4:126372260 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.3192C>T (p.Asp1064=) single nucleotide variant not provided [RCV000880135] Chr4:125319603 [GRCh38]
Chr4:126240758 [GRCh37]
Chr4:4q28.1		 benign|likely benign
NM_001291303.3(FAT4):c.7326G>A (p.Ala2442=) single nucleotide variant not provided [RCV000932169] Chr4:125446419 [GRCh38]
Chr4:126367574 [GRCh37]
Chr4:4q28.1		 benign|likely benign
NM_001291303.3(FAT4):c.7578C>T (p.Ala2526=) single nucleotide variant not provided [RCV000898286] Chr4:125448588 [GRCh38]
Chr4:126369743 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.14404C>T (p.Pro4802Ser) single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 2 [RCV001199117] Chr4:125491220 [GRCh38]
Chr4:126412375 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.14311C>T (p.Arg4771Cys) single nucleotide variant not provided [RCV001772357]|not specified [RCV001175012] Chr4:125491127 [GRCh38]
Chr4:126412282 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.6957A>G (p.Thr2319=) single nucleotide variant not provided [RCV000912001] Chr4:125416561 [GRCh38]
Chr4:126337716 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.5530C>T (p.Pro1844Ser) single nucleotide variant not provided [RCV000933699] Chr4:125407102 [GRCh38]
Chr4:126328257 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.13193T>C (p.Ile4398Thr) single nucleotide variant Inborn genetic diseases [RCV002549085]|not provided [RCV000998295] Chr4:125490009 [GRCh38]
Chr4:126411164 [GRCh37]
Chr4:4q28.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_001291303.3(FAT4):c.9141C>T (p.Ser3047=) single nucleotide variant not provided [RCV000912071] Chr4:125450151 [GRCh38]
Chr4:126371306 [GRCh37]
Chr4:4q28.1		 benign|likely benign
NM_001291303.3(FAT4):c.10392C>A (p.Ile3464=) single nucleotide variant FAT4-related disorder [RCV003902913]|not provided [RCV000912919] Chr4:125451402 [GRCh38]
Chr4:126372557 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.4953A>G (p.Ile1651Met) single nucleotide variant not provided [RCV000913001] Chr4:125321364 [GRCh38]
Chr4:126242519 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.13029T>C (p.Leu4343=) single nucleotide variant not provided [RCV000913002] Chr4:125487551 [GRCh38]
Chr4:126408706 [GRCh37]
Chr4:4q28.1		 benign|likely benign
NM_001291303.3(FAT4):c.6234T>C (p.Asp2078=) single nucleotide variant not provided [RCV000912513] Chr4:125415197 [GRCh38]
Chr4:126336352 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.5569+16C>G single nucleotide variant not provided [RCV002681213] Chr4:125407157 [GRCh38]
Chr4:126328312 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.11906-282C>T single nucleotide variant not provided [RCV001561660] Chr4:125468230 [GRCh38]
Chr4:126389385 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.771G>A (p.Ala257=) single nucleotide variant not provided [RCV002771060] Chr4:125317182 [GRCh38]
Chr4:126238337 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.2057G>A (p.Ser686Asn) single nucleotide variant FAT4-related disorder [RCV003931192]|not provided [RCV001562265] Chr4:125318468 [GRCh38]
Chr4:126239623 [GRCh37]
Chr4:4q28.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001291303.3(FAT4):c.7240C>G (p.Pro2414Ala) single nucleotide variant not provided [RCV002967419] Chr4:125446333 [GRCh38]
Chr4:126367488 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.9256T>C (p.Tyr3086His) single nucleotide variant not provided [RCV002967516] Chr4:125450266 [GRCh38]
Chr4:126371421 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.6731C>T (p.Thr2244Met) single nucleotide variant Inborn genetic diseases [RCV002573178]|not provided [RCV001562721] Chr4:125415694 [GRCh38]
Chr4:126336849 [GRCh37]
Chr4:4q28.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_001291303.3(FAT4):c.11801-332T>C single nucleotide variant not provided [RCV001548714] Chr4:125463231 [GRCh38]
Chr4:126384386 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.8879G>A (p.Arg2960Gln) single nucleotide variant not provided [RCV002254448] Chr4:125449889 [GRCh38]
Chr4:126371044 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.9273C>A (p.Phe3091Leu) single nucleotide variant Capillary infantile hemangioma [RCV002254449]|FAT4-related disorder [RCV004750717]|not provided [RCV003101397] Chr4:125450283 [GRCh38]
Chr4:126371438 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.283A>T (p.Thr95Ser) single nucleotide variant FAT4-related disorder [RCV004752018]|not provided [RCV001575908] Chr4:125316694 [GRCh38]
Chr4:126237849 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.9453del (p.Ala3153fs) deletion Small cell lung carcinoma [RCV002465315] Chr4:125450462 [GRCh38]
Chr4:126371617 [GRCh37]
Chr4:4q28.1		 pathogenic
NM_001291303.3(FAT4):c.12213+130A>G single nucleotide variant not provided [RCV001555742] Chr4:125468949 [GRCh38]
Chr4:126390104 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.9454A>T (p.Lys3152Ter) single nucleotide variant Small cell lung carcinoma [RCV002465316] Chr4:125450464 [GRCh38]
Chr4:126371619 [GRCh37]
Chr4:4q28.1		 pathogenic
NM_001291303.3(FAT4):c.12822G>C (p.Lys4274Asn) single nucleotide variant Small cell lung carcinoma [RCV002465323] Chr4:125481738 [GRCh38]
Chr4:126402893 [GRCh37]
Chr4:4q28.1		 pathogenic
NM_001291303.3(FAT4):c.12214-42G>C single nucleotide variant not provided [RCV001566556] Chr4:125476129 [GRCh38]
Chr4:126397284 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.7199+91C>T single nucleotide variant not provided [RCV001576803] Chr4:125434516 [GRCh38]
Chr4:126355671 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.9825C>T (p.Val3275=) single nucleotide variant not provided [RCV003106595] Chr4:125450835 [GRCh38]
Chr4:126371990 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.2461G>C (p.Asp821His) single nucleotide variant Van Maldergem syndrome 2 [RCV002471933] Chr4:125318872 [GRCh38]
Chr4:126240027 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.1489A>G (p.Ile497Val) single nucleotide variant Van Maldergem syndrome 2 [RCV002471973] Chr4:125317900 [GRCh38]
Chr4:126239055 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.1219T>C (p.Phe407Leu) single nucleotide variant Van Maldergem syndrome 2 [RCV002471970] Chr4:125317630 [GRCh38]
Chr4:126238785 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.12480-300A>G single nucleotide variant not provided [RCV001651400] Chr4:125479441 [GRCh38]
Chr4:126400596 [GRCh37]
Chr4:4q28.1		 benign
NM_001291303.3(FAT4):c.9004A>G (p.Thr3002Ala) single nucleotide variant not provided [RCV001591521] Chr4:125450014 [GRCh38]
Chr4:126371169 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.5176-188G>A single nucleotide variant not provided [RCV001717345] Chr4:125398596 [GRCh38]
Chr4:126319751 [GRCh37]
Chr4:4q28.1		 benign
NM_001291303.3(FAT4):c.12300-176G>A single nucleotide variant not provided [RCV001717348] Chr4:125476979 [GRCh38]
Chr4:126398134 [GRCh37]
Chr4:4q28.1		 benign
NM_001291303.3(FAT4):c.5569+157G>A single nucleotide variant not provided [RCV001717292] Chr4:125407298 [GRCh38]
Chr4:126328453 [GRCh37]
Chr4:4q28.1		 benign
NM_001291303.3(FAT4):c.2273C>T (p.Ala758Val) single nucleotide variant not provided [RCV001593458] Chr4:125318684 [GRCh38]
Chr4:126239839 [GRCh37]
Chr4:4q28.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_001291303.3(FAT4):c.12107G>C (p.Arg4036Thr) single nucleotide variant Inborn genetic diseases [RCV003247001]|not provided [RCV001723280] Chr4:125468713 [GRCh38]
Chr4:126389868 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.6844-48A>G single nucleotide variant not provided [RCV001619114]|not specified [RCV003487543] Chr4:125416400 [GRCh38]
Chr4:126337555 [GRCh37]
Chr4:4q28.1		 benign
NM_001291303.3(FAT4):c.12213+196A>G single nucleotide variant not provided [RCV001595617] Chr4:125469015 [GRCh38]
Chr4:126390170 [GRCh37]
Chr4:4q28.1		 benign
NM_001291303.3(FAT4):c.12605-231T>C single nucleotide variant not provided [RCV001661243] Chr4:125481290 [GRCh38]
Chr4:126402445 [GRCh37]
Chr4:4q28.1		 benign
NM_001291303.3(FAT4):c.842C>T (p.Thr281Ile) single nucleotide variant FAT4-related disorder [RCV003941012]|Inborn genetic diseases [RCV004039342]|Van Maldergem syndrome 2 [RCV002506667]|not provided [RCV001564688] Chr4:125317253 [GRCh38]
Chr4:126238408 [GRCh37]
Chr4:4q28.1		 benign|likely benign
NM_001291303.3(FAT4):c.10748A>C (p.Tyr3583Ser) single nucleotide variant not provided [RCV001659023] Chr4:125451758 [GRCh38]
Chr4:126372913 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.9313A>G (p.Ser3105Gly) single nucleotide variant Congenital anomaly of kidney and urinary tract [RCV001849468]|Van Maldergem syndrome 2 [RCV001004887]|not provided [RCV001860568] Chr4:125450323 [GRCh38]
Chr4:126371478 [GRCh37]
Chr4:4q28.1		 likely pathogenic|uncertain significance
NM_001291303.3(FAT4):c.9279A>C (p.Gln3093His) single nucleotide variant Congenital anomaly of kidney and urinary tract [RCV001849467]|See cases [RCV002252296]|Van Maldergem syndrome 2 [RCV001004886]|not provided [RCV001759684] Chr4:125450289 [GRCh38]
Chr4:126371444 [GRCh37]
Chr4:4q28.1		 likely pathogenic|uncertain significance
NM_001291303.3(FAT4):c.7451-155C>T single nucleotide variant not provided [RCV001611776] Chr4:125448306 [GRCh38]
Chr4:126369461 [GRCh37]
Chr4:4q28.1		 benign
NM_001291303.3(FAT4):c.11906-40A>G single nucleotide variant not provided [RCV001692523]|not specified [RCV003487697] Chr4:125468472 [GRCh38]
Chr4:126389627 [GRCh37]
Chr4:4q28.1		 benign
NM_001291303.3(FAT4):c.13206C>A (p.Gly4402=) single nucleotide variant not provided [RCV001538132] Chr4:125490022 [GRCh38]
Chr4:126411177 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.14587A>G (p.Met4863Val) single nucleotide variant not provided [RCV001583621] Chr4:125491403 [GRCh38]
Chr4:126412558 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.7199+29T>G single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 2 [RCV001702129]|Van Maldergem syndrome 2 [RCV001703131]|not provided [RCV001598120]|not specified [RCV003487501] Chr4:125434454 [GRCh38]
Chr4:126355609 [GRCh37]
Chr4:4q28.1		 benign
NM_001291303.3(FAT4):c.9084T>C (p.Asp3028=) single nucleotide variant not provided [RCV001531594] Chr4:125450094 [GRCh38]
Chr4:126371249 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.5944A>G (p.Ser1982Gly) single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 2 [RCV001198671] Chr4:125414907 [GRCh38]
Chr4:126336062 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.2917G>A (p.Val973Ile) single nucleotide variant FAT4-related disorder [RCV003953587]|Inborn genetic diseases [RCV002561885]|not provided [RCV001216220] Chr4:125319328 [GRCh38]
Chr4:126240483 [GRCh37]
Chr4:4q28.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001291303.3(FAT4):c.9800A>G (p.His3267Arg) single nucleotide variant Inborn genetic diseases [RCV004030271]|not provided [RCV001869430]|not specified [RCV001002462] Chr4:125450810 [GRCh38]
Chr4:126371965 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.4457G>A (p.Arg1486Gln) single nucleotide variant not provided [RCV003106796] Chr4:125320868 [GRCh38]
Chr4:126242023 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.10806G>A (p.Val3602=) single nucleotide variant not provided [RCV003106797] Chr4:125451816 [GRCh38]
Chr4:126372971 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.1012G>A (p.Glu338Lys) single nucleotide variant Microcephaly [RCV001252935]|not provided [RCV001862740] Chr4:125317423 [GRCh38]
Chr4:126238578 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.2858G>T (p.Gly953Val) single nucleotide variant not provided [RCV001529544] Chr4:125319269 [GRCh38]
Chr4:126240424 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.13402G>A (p.Val4468Met) single nucleotide variant Van Maldergem syndrome 2 [RCV001329344] Chr4:125490218 [GRCh38]
Chr4:126411373 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.4411A>G (p.Ile1471Val) single nucleotide variant not provided [RCV001341661] Chr4:125320822 [GRCh38]
Chr4:126241977 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.3505C>T (p.Arg1169Trp) single nucleotide variant not provided [RCV001298147] Chr4:125319916 [GRCh38]
Chr4:126241071 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.14743G>A (p.Ala4915Thr) single nucleotide variant not provided [RCV001296315] Chr4:125491559 [GRCh38]
Chr4:126412714 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.8313T>C (p.Asn2771=) single nucleotide variant FAT4-related disorder [RCV003953673]|Hennekam lymphangiectasia-lymphedema syndrome 2 [RCV001334203]|not provided [RCV002070181] Chr4:125449323 [GRCh38]
Chr4:126370478 [GRCh37]
Chr4:4q28.1		 benign|likely benign|uncertain significance
NM_001291303.3(FAT4):c.5161A>G (p.Thr1721Ala) single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 2 [RCV001333190] Chr4:125321572 [GRCh38]
Chr4:126242727 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.3167G>A (p.Ser1056Asn) single nucleotide variant not provided [RCV001306338] Chr4:125319578 [GRCh38]
Chr4:126240733 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.8753A>G (p.Glu2918Gly) single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 2 [RCV001329347] Chr4:125449763 [GRCh38]
Chr4:126370918 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.9152C>A (p.Ser3051Tyr) single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 2 [RCV001329348]|not provided [RCV002546318] Chr4:125450162 [GRCh38]
Chr4:126371317 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.3738C>G (p.His1246Gln) single nucleotide variant Van Maldergem syndrome 2 [RCV001374624] Chr4:125320149 [GRCh38]
Chr4:126241304 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.2324A>G (p.Asn775Ser) single nucleotide variant not provided [RCV001305092] Chr4:125318735 [GRCh38]
Chr4:126239890 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.13385G>A (p.Arg4462Lys) single nucleotide variant Van Maldergem syndrome 2 [RCV001329343] Chr4:125490201 [GRCh38]
Chr4:126411356 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.5889_5890delinsAA (p.Leu1964Ile) indel not provided [RCV001371698] Chr4:125408763..125408764 [GRCh38]
Chr4:126329918..126329919 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.10451C>G (p.Ala3484Gly) single nucleotide variant not provided [RCV001371725] Chr4:125451461 [GRCh38]
Chr4:126372616 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.14837T>C (p.Val4946Ala) single nucleotide variant not provided [RCV001313628] Chr4:125491653 [GRCh38]
Chr4:126412808 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.13388C>T (p.Thr4463Ile) single nucleotide variant FAT4-related disorder [RCV003405618]|Inborn genetic diseases [RCV002550123]|not provided [RCV001371076] Chr4:125490204 [GRCh38]
Chr4:126411359 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.3726T>G (p.Asn1242Lys) single nucleotide variant not provided [RCV001321647] Chr4:125320137 [GRCh38]
Chr4:126241292 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.1198G>T (p.Gly400Trp) single nucleotide variant Van Maldergem syndrome 2 [RCV003992506]|not provided [RCV001346580] Chr4:125317609 [GRCh38]
Chr4:126238764 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.733G>A (p.Asp245Asn) single nucleotide variant Inborn genetic diseases [RCV004619678]|not provided [RCV001371288] Chr4:125317144 [GRCh38]
Chr4:126238299 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.12085G>A (p.Ala4029Thr) single nucleotide variant FAT4-related disorder [RCV003953671]|Hennekam lymphangiectasia-lymphedema syndrome 2 [RCV001333188]|not provided [RCV002070173] Chr4:125468691 [GRCh38]
Chr4:126389846 [GRCh37]
Chr4:4q28.1		 likely benign|uncertain significance
NM_001291303.3(FAT4):c.14105G>A (p.Arg4702Gln) single nucleotide variant not provided [RCV001345945] Chr4:125490921 [GRCh38]
Chr4:126412076 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.8525G>A (p.Arg2842His) single nucleotide variant Inborn genetic diseases [RCV002548568]|not provided [RCV001365109] Chr4:125449535 [GRCh38]
Chr4:126370690 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.11814A>C (p.Glu3938Asp) single nucleotide variant not provided [RCV001297211] Chr4:125463576 [GRCh38]
Chr4:126384731 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.11260A>G (p.Ser3754Gly) single nucleotide variant FAT4-related disorder [RCV003938613]|Inborn genetic diseases [RCV002543538]|Van Maldergem syndrome 2 [RCV003883174]|not provided [RCV001309974] Chr4:125452270 [GRCh38]
Chr4:126373425 [GRCh37]
Chr4:4q28.1		 likely benign|uncertain significance
NM_001291303.3(FAT4):c.11152C>T (p.Arg3718Cys) single nucleotide variant Inborn genetic diseases [RCV002550021]|not provided [RCV001361722] Chr4:125452162 [GRCh38]
Chr4:126373317 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.1827C>A (p.Asp609Glu) single nucleotide variant Inborn genetic diseases [RCV002539494]|not provided [RCV001302232] Chr4:125318238 [GRCh38]
Chr4:126239393 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.10262T>C (p.Ile3421Thr) single nucleotide variant not provided [RCV001323548] Chr4:125451272 [GRCh38]
Chr4:126372427 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.4169T>C (p.Ile1390Thr) single nucleotide variant not provided [RCV001307225] Chr4:125320580 [GRCh38]
Chr4:126241735 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.13564G>C (p.Val4522Leu) single nucleotide variant not provided [RCV001305163] Chr4:125490380 [GRCh38]
Chr4:126411535 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.2290G>A (p.Val764Ile) single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 2 [RCV001329345]|Inborn genetic diseases [RCV004619638] Chr4:125318701 [GRCh38]
Chr4:126239856 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.8408T>C (p.Ile2803Thr) single nucleotide variant Inborn genetic diseases [RCV003166656]|not provided [RCV001296901] Chr4:125449418 [GRCh38]
Chr4:126370573 [GRCh37]
Chr4:4q28.1		 uncertain significance
GRCh37/hg19 4q26-28.2(chr4:116833638-130232122) copy number loss Atypical behavior [RCV001352657] Chr4:116833638..130232122 [GRCh37]
Chr4:4q26-28.2		 pathogenic
NM_001291303.3(FAT4):c.418A>G (p.Ile140Val) single nucleotide variant not provided [RCV001340317] Chr4:125316829 [GRCh38]
Chr4:126237984 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.3722A>G (p.Asn1241Ser) single nucleotide variant not provided [RCV001296198] Chr4:125320133 [GRCh38]
Chr4:126241288 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.11706T>G (p.Asp3902Glu) single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 2 [RCV001329342] Chr4:125452716 [GRCh38]
Chr4:126373871 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.4432A>G (p.Ile1478Val) single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 2 [RCV001329346]|not provided [RCV002284482] Chr4:125320843 [GRCh38]
Chr4:126241998 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.10468C>A (p.Pro3490Thr) single nucleotide variant not provided [RCV001309705] Chr4:125451478 [GRCh38]
Chr4:126372633 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.7312G>T (p.Val2438Phe) single nucleotide variant Inborn genetic diseases [RCV003355405]|Van Maldergem syndrome 2 [RCV003224556]|not provided [RCV001338327] Chr4:125446405 [GRCh38]
Chr4:126367560 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.5246T>C (p.Val1749Ala) single nucleotide variant not provided [RCV001298438] Chr4:125398854 [GRCh38]
Chr4:126320009 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.7466C>A (p.Ala2489Glu) single nucleotide variant Van Maldergem syndrome 2 [RCV002486325]|not provided [RCV001327873] Chr4:125448476 [GRCh38]
Chr4:126369631 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.8363C>G (p.Pro2788Arg) single nucleotide variant not provided [RCV001306696] Chr4:125449373 [GRCh38]
Chr4:126370528 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.44C>G (p.Pro15Arg) single nucleotide variant not provided [RCV001303676] Chr4:125316455 [GRCh38]
Chr4:126237610 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.5570-73C>G single nucleotide variant not provided [RCV001537131] Chr4:125408371 [GRCh38]
Chr4:126329526 [GRCh37]
Chr4:4q28.1		 benign
NM_001291303.3(FAT4):c.14430A>G (p.Ala4810=) single nucleotide variant not provided [RCV001445959] Chr4:125491246 [GRCh38]
Chr4:126412401 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.2316A>C (p.Gln772His) single nucleotide variant not provided [RCV001430633] Chr4:125318727 [GRCh38]
Chr4:126239882 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.5751A>C (p.Arg1917=) single nucleotide variant not provided [RCV001449105] Chr4:125408625 [GRCh38]
Chr4:126329780 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.1244C>G (p.Pro415Arg) single nucleotide variant not provided [RCV001439930] Chr4:125317655 [GRCh38]
Chr4:126238810 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.11906-10C>T single nucleotide variant FAT4-related disorder [RCV003930896]|not provided [RCV001417478] Chr4:125468502 [GRCh38]
Chr4:126389657 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.12499G>A (p.Ala4167Thr) single nucleotide variant not provided [RCV001436319] Chr4:125479760 [GRCh38]
Chr4:126400915 [GRCh37]
Chr4:4q28.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001291303.3(FAT4):c.9896G>A (p.Arg3299His) single nucleotide variant not provided [RCV001434268] Chr4:125450906 [GRCh38]
Chr4:126372061 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.2145C>T (p.Asp715=) single nucleotide variant not provided [RCV001416047] Chr4:125318556 [GRCh38]
Chr4:126239711 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.14875G>A (p.Ala4959Thr) single nucleotide variant not provided [RCV001438128] Chr4:125491691 [GRCh38]
Chr4:126412846 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.10527G>A (p.Gly3509=) single nucleotide variant not provided [RCV001442962] Chr4:125451537 [GRCh38]
Chr4:126372692 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.10035G>T (p.Lys3345Asn) single nucleotide variant not provided [RCV001409096] Chr4:125451045 [GRCh38]
Chr4:126372200 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.11885ATT[1] (p.Tyr3963del) microsatellite not provided [RCV001588289] Chr4:125463645..125463647 [GRCh38]
Chr4:126384800..126384802 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.10570C>T (p.Arg3524Trp) single nucleotide variant not provided [RCV001450724] Chr4:125451580 [GRCh38]
Chr4:126372735 [GRCh37]
Chr4:4q28.1		 likely benign|conflicting interpretations of pathogenicity
NM_001291303.3(FAT4):c.12853G>A (p.Asp4285Asn) single nucleotide variant not provided [RCV001479115] Chr4:125487375 [GRCh38]
Chr4:126408530 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.8537G>A (p.Arg2846Gln) single nucleotide variant not provided [RCV001592526] Chr4:125449547 [GRCh38]
Chr4:126370702 [GRCh37]
Chr4:4q28.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_001291303.3(FAT4):c.5920+314del deletion not provided [RCV001593539] Chr4:125409105 [GRCh38]
Chr4:126330260 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.5921-61G>C single nucleotide variant not provided [RCV001717289]|not specified [RCV003487760] Chr4:125414823 [GRCh38]
Chr4:126335978 [GRCh37]
Chr4:4q28.1		 benign
NM_001291303.3(FAT4):c.6843+196T>C single nucleotide variant not provided [RCV001682582] Chr4:125416002 [GRCh38]
Chr4:126337157 [GRCh37]
Chr4:4q28.1		 benign
NM_001291303.3(FAT4):c.6597T>C (p.Asn2199=) single nucleotide variant not provided [RCV001483370] Chr4:125415560 [GRCh38]
Chr4:126336715 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.2450C>T (p.Ala817Val) single nucleotide variant FAT4-related disorder [RCV003900761]|Inborn genetic diseases [RCV002568018]|not provided [RCV001512017] Chr4:125318861 [GRCh38]
Chr4:126240016 [GRCh37]
Chr4:4q28.1		 benign|likely benign
NM_001291303.3(FAT4):c.12479+76G>T single nucleotide variant not provided [RCV001687536] Chr4:125477410 [GRCh38]
Chr4:126398565 [GRCh37]
Chr4:4q28.1		 benign
NM_001291303.3(FAT4):c.1092C>T (p.Tyr364=) single nucleotide variant not provided [RCV001500444] Chr4:125317503 [GRCh38]
Chr4:126238658 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.11800+290T>C single nucleotide variant not provided [RCV001694488] Chr4:125453100 [GRCh38]
Chr4:126374255 [GRCh37]
Chr4:4q28.1		 benign
NM_001291303.3(FAT4):c.12213+48A>G single nucleotide variant not provided [RCV001715576]|not specified [RCV003487748] Chr4:125468867 [GRCh38]
Chr4:126390022 [GRCh37]
Chr4:4q28.1		 benign
NM_001291303.3(FAT4):c.2216A>T (p.Asn739Ile) single nucleotide variant Inborn genetic diseases [RCV004616756]|not provided [RCV001565162] Chr4:125318627 [GRCh38]
Chr4:126239782 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.12213+36A>G single nucleotide variant not provided [RCV001687180]|not specified [RCV003487689] Chr4:125468855 [GRCh38]
Chr4:126390010 [GRCh37]
Chr4:4q28.1		 benign
NM_001291303.3(FAT4):c.10852A>G (p.Thr3618Ala) single nucleotide variant not provided [RCV001585379] Chr4:125451862 [GRCh38]
Chr4:126373017 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.2216A>G (p.Asn739Ser) single nucleotide variant not provided [RCV001513635] Chr4:125318627 [GRCh38]
Chr4:126239782 [GRCh37]
Chr4:4q28.1		 benign|likely benign
NM_001291303.3(FAT4):c.12480-71G>T single nucleotide variant not provided [RCV001649823]|not specified [RCV003487614] Chr4:125479670 [GRCh38]
Chr4:126400825 [GRCh37]
Chr4:4q28.1		 benign
NM_001291303.3(FAT4):c.9451G>A (p.Ala3151Thr) single nucleotide variant Van Maldergem syndrome 2 [RCV002071879]|not provided [RCV001512581] Chr4:125450461 [GRCh38]
Chr4:126371616 [GRCh37]
Chr4:4q28.1		 benign|likely benign|uncertain significance
NM_001291303.3(FAT4):c.13634C>T (p.Pro4545Leu) single nucleotide variant Inborn genetic diseases [RCV002560334]|not provided [RCV001452925] Chr4:125490450 [GRCh38]
Chr4:126411605 [GRCh37]
Chr4:4q28.1		 likely benign|uncertain significance
NM_001291303.3(FAT4):c.7452T>C (p.Gly2484=) single nucleotide variant FAT4-related disorder [RCV003956176]|not provided [RCV001516731] Chr4:125448462 [GRCh38]
Chr4:126369617 [GRCh37]
Chr4:4q28.1		 benign|likely benign
NM_001291303.3(FAT4):c.7582G>A (p.Gly2528Arg) single nucleotide variant not provided [RCV001491405] Chr4:125448592 [GRCh38]
Chr4:126369747 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.8227C>T (p.Leu2743=) single nucleotide variant not provided [RCV001451492] Chr4:125449237 [GRCh38]
Chr4:126370392 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.3067A>G (p.Lys1023Glu) single nucleotide variant not provided [RCV001457322] Chr4:125319478 [GRCh38]
Chr4:126240633 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.8231C>T (p.Thr2744Ile) single nucleotide variant not provided [RCV001460509] Chr4:125449241 [GRCh38]
Chr4:126370396 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.829G>A (p.Ala277Thr) single nucleotide variant FAT4-related disorder [RCV003399225]|not provided [RCV001429607] Chr4:125317240 [GRCh38]
Chr4:126238395 [GRCh37]
Chr4:4q28.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001291303.3(FAT4):c.81G>A (p.Val27=) single nucleotide variant not provided [RCV001440707] Chr4:125316492 [GRCh38]
Chr4:126237647 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.13088G>T (p.Gly4363Val) single nucleotide variant FAT4-related disorder [RCV003980612]|Inborn genetic diseases [RCV002568765]|not provided [RCV001521807] Chr4:125489904 [GRCh38]
Chr4:126411059 [GRCh37]
Chr4:4q28.1		 benign|likely benign
NM_001291303.3(FAT4):c.7466C>T (p.Ala2489Val) single nucleotide variant FAT4-related disorder [RCV003966103]|not provided [RCV001517645]|not specified [RCV001821825] Chr4:125448476 [GRCh38]
Chr4:126369631 [GRCh37]
Chr4:4q28.1		 benign|likely benign
NM_001291303.3(FAT4):c.1419T>C (p.Pro473=) single nucleotide variant not provided [RCV001483753] Chr4:125317830 [GRCh38]
Chr4:126238985 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.7018+9A>G single nucleotide variant not provided [RCV001393900] Chr4:125416631 [GRCh38]
Chr4:126337786 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.12605-102C>T single nucleotide variant not provided [RCV001527729]|not specified [RCV003487427] Chr4:125481419 [GRCh38]
Chr4:126402574 [GRCh37]
Chr4:4q28.1		 benign
NM_001291303.3(FAT4):c.10025A>G (p.Asn3342Ser) single nucleotide variant Inborn genetic diseases [RCV004244530]|not provided [RCV003108405] Chr4:125451035 [GRCh38]
Chr4:126372190 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.11309G>A (p.Arg3770Gln) single nucleotide variant not provided [RCV001756967] Chr4:125452319 [GRCh38]
Chr4:126373474 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.11531C>T (p.Pro3844Leu) single nucleotide variant not provided [RCV001756286] Chr4:125452541 [GRCh38]
Chr4:126373696 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.9946G>T (p.Gly3316Cys) single nucleotide variant not provided [RCV001756335] Chr4:125450956 [GRCh38]
Chr4:126372111 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.12019A>G (p.Ile4007Val) single nucleotide variant not provided [RCV001756941] Chr4:125468625 [GRCh38]
Chr4:126389780 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.14701G>A (p.Glu4901Lys) single nucleotide variant not provided [RCV001760758] Chr4:125491517 [GRCh38]
Chr4:126412672 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.8258C>T (p.Pro2753Leu) single nucleotide variant not provided [RCV001756942] Chr4:125449268 [GRCh38]
Chr4:126370423 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.4273A>G (p.Ile1425Val) single nucleotide variant not provided [RCV001760891] Chr4:125320684 [GRCh38]
Chr4:126241839 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.9881A>G (p.Asn3294Ser) single nucleotide variant not provided [RCV001757112] Chr4:125450891 [GRCh38]
Chr4:126372046 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.4432A>C (p.Ile1478Leu) single nucleotide variant not provided [RCV001757908] Chr4:125320843 [GRCh38]
Chr4:126241998 [GRCh37]
Chr4:4q28.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_001291303.3(FAT4):c.7601C>T (p.Ser2534Leu) single nucleotide variant not provided [RCV001754041] Chr4:125448611 [GRCh38]
Chr4:126369766 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.7052A>G (p.Asn2351Ser) single nucleotide variant FAT4-related disorder [RCV003956348]|not provided [RCV001754098]|not specified [RCV002222723] Chr4:125434278 [GRCh38]
Chr4:126355433 [GRCh37]
Chr4:4q28.1		 benign|likely benign|uncertain significance
NM_001291303.3(FAT4):c.1525A>C (p.Asn509His) single nucleotide variant not provided [RCV001763202] Chr4:125317936 [GRCh38]
Chr4:126239091 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.14462G>T (p.Cys4821Phe) single nucleotide variant Inborn genetic diseases [RCV004616767]|not provided [RCV001772623] Chr4:125491278 [GRCh38]
Chr4:126412433 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.286A>G (p.Ile96Val) single nucleotide variant not provided [RCV001786080] Chr4:125316697 [GRCh38]
Chr4:126237852 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.13543G>A (p.Ala4515Thr) single nucleotide variant not provided [RCV001761131] Chr4:125490359 [GRCh38]
Chr4:126411514 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.9410G>A (p.Gly3137Asp) single nucleotide variant not provided [RCV001770810] Chr4:125450420 [GRCh38]
Chr4:126371575 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.7707G>T (p.Val2569=) single nucleotide variant not provided [RCV001786806] Chr4:125448717 [GRCh38]
Chr4:126369872 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.10690A>G (p.Thr3564Ala) single nucleotide variant not provided [RCV001764992] Chr4:125451700 [GRCh38]
Chr4:126372855 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.12100G>A (p.Glu4034Lys) single nucleotide variant not provided [RCV001771228] Chr4:125468706 [GRCh38]
Chr4:126389861 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.14495C>T (p.Ala4832Val) single nucleotide variant not provided [RCV001765239] Chr4:125491311 [GRCh38]
Chr4:126412466 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.4964G>A (p.Ser1655Asn) single nucleotide variant not provided [RCV001763201] Chr4:125321375 [GRCh38]
Chr4:126242530 [GRCh37]
Chr4:4q28.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_001291303.3(FAT4):c.4228G>A (p.Val1410Met) single nucleotide variant Van Maldergem syndrome 2 [RCV004728795]|not provided [RCV001772484] Chr4:125320639 [GRCh38]
Chr4:126241794 [GRCh37]
Chr4:4q28.1		 likely benign|uncertain significance
NM_001291303.3(FAT4):c.3041G>A (p.Arg1014Gln) single nucleotide variant not provided [RCV001763839] Chr4:125319452 [GRCh38]
Chr4:126240607 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.4417G>A (p.Glu1473Lys) single nucleotide variant FAT4-related disorder [RCV004731173]|not provided [RCV001774271] Chr4:125320828 [GRCh38]
Chr4:126241983 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.6630C>G (p.Ala2210=) single nucleotide variant not provided [RCV001772963] Chr4:125415593 [GRCh38]
Chr4:126336748 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.556C>T (p.Arg186Cys) single nucleotide variant Inborn genetic diseases [RCV004040086]|not provided [RCV001752029] Chr4:125316967 [GRCh38]
Chr4:126238122 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.4199G>A (p.Arg1400His) single nucleotide variant Inborn genetic diseases [RCV002540567]|not provided [RCV001773189] Chr4:125320610 [GRCh38]
Chr4:126241765 [GRCh37]
Chr4:4q28.1		 conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 4q26-28.3(chr4:114872547-138005267)x1 copy number loss not provided [RCV001795851] Chr4:114872547..138005267 [GRCh37]
Chr4:4q26-28.3		 pathogenic
NM_001291303.3(FAT4):c.3937C>T (p.Pro1313Ser) single nucleotide variant not provided [RCV001764886] Chr4:125320348 [GRCh38]
Chr4:126241503 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.13621G>A (p.Glu4541Lys) single nucleotide variant not provided [RCV001769288] Chr4:125490437 [GRCh38]
Chr4:126411592 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.8461A>G (p.Thr2821Ala) single nucleotide variant not provided [RCV001800126] Chr4:125449471 [GRCh38]
Chr4:126370626 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.9140C>T (p.Ser3047Phe) single nucleotide variant not provided [RCV001765535] Chr4:125450150 [GRCh38]
Chr4:126371305 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.10750C>G (p.Leu3584Val) single nucleotide variant Inborn genetic diseases [RCV002538751]|not provided [RCV001757865] Chr4:125451760 [GRCh38]
Chr4:126372915 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.5552C>T (p.Pro1851Leu) single nucleotide variant Inborn genetic diseases [RCV004040142]|not provided [RCV001770853] Chr4:125407124 [GRCh38]
Chr4:126328279 [GRCh37]
Chr4:4q28.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_001291303.3(FAT4):c.5345G>A (p.Gly1782Glu) single nucleotide variant not provided [RCV001774507] Chr4:125406917 [GRCh38]
Chr4:126328072 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.9503C>G (p.Ala3168Gly) single nucleotide variant not provided [RCV001774533] Chr4:125450513 [GRCh38]
Chr4:126371668 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.115T>C (p.Trp39Arg) single nucleotide variant not provided [RCV001774646] Chr4:125316526 [GRCh38]
Chr4:126237681 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.11841C>A (p.Asn3947Lys) single nucleotide variant not provided [RCV001771316] Chr4:125463603 [GRCh38]
Chr4:126384758 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.11378T>C (p.Leu3793Pro) single nucleotide variant Inborn genetic diseases [RCV002540539]|not provided [RCV001771378] Chr4:125452388 [GRCh38]
Chr4:126373543 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.14877A>G (p.Ala4959=) single nucleotide variant FAT4-related disorder [RCV004752056]|not provided [RCV001816382] Chr4:125491693 [GRCh38]
Chr4:126412848 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.10148_10149delinsCA (p.Ile3383Thr) indel not provided [RCV001761340] Chr4:125451158..125451159 [GRCh38]
Chr4:126372313..126372314 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.4471C>T (p.Leu1491Phe) single nucleotide variant not provided [RCV001763030] Chr4:125320882 [GRCh38]
Chr4:126242037 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.4481T>G (p.Leu1494Trp) single nucleotide variant not provided [RCV001763291] Chr4:125320892 [GRCh38]
Chr4:126242047 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.7264A>T (p.Ser2422Cys) single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 2 [RCV004558636]|Inborn genetic diseases [RCV002538837]|not provided [RCV001763380] Chr4:125446357 [GRCh38]
Chr4:126367512 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.6688C>A (p.Gln2230Lys) single nucleotide variant not provided [RCV001799873] Chr4:125415651 [GRCh38]
Chr4:126336806 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.13827C>G (p.Ser4609Arg) single nucleotide variant not provided [RCV001797204] Chr4:125490643 [GRCh38]
Chr4:126411798 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.14386_14387del (p.Arg4796fs) microsatellite not provided [RCV001797219] Chr4:125491199..125491200 [GRCh38]
Chr4:126412354..126412355 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.10155T>A (p.Gly3385=) single nucleotide variant not provided [RCV003698872]|not specified [RCV001817579] Chr4:125451165 [GRCh38]
Chr4:126372320 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.12778G>A (p.Val4260Ile) single nucleotide variant not provided [RCV001797507] Chr4:125481694 [GRCh38]
Chr4:126402849 [GRCh37]
Chr4:4q28.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_001291303.3(FAT4):c.14726C>T (p.Ala4909Val) single nucleotide variant not specified [RCV001819203] Chr4:125491542 [GRCh38]
Chr4:126412697 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.9597T>A (p.Asp3199Glu) single nucleotide variant Inborn genetic diseases [RCV002542052]|not provided [RCV002545160]|not specified [RCV001820717] Chr4:125450607 [GRCh38]
Chr4:126371762 [GRCh37]
Chr4:4q28.1		 likely benign|uncertain significance
NM_001291303.3(FAT4):c.8332A>C (p.Ile2778Leu) single nucleotide variant not specified [RCV001820716] Chr4:125449342 [GRCh38]
Chr4:126370497 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.7848T>G (p.Ile2616Met) single nucleotide variant not specified [RCV001822400] Chr4:125448858 [GRCh38]
Chr4:126370013 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.8230A>G (p.Thr2744Ala) single nucleotide variant not provided [RCV002025212] Chr4:125449240 [GRCh38]
Chr4:126370395 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.8920A>C (p.Asn2974His) single nucleotide variant Inborn genetic diseases [RCV002592579]|not provided [RCV001988592] Chr4:125449930 [GRCh38]
Chr4:126371085 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.5765G>A (p.Gly1922Glu) single nucleotide variant not provided [RCV001895967] Chr4:125408639 [GRCh38]
Chr4:126329794 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.3028C>T (p.Pro1010Ser) single nucleotide variant not provided [RCV001914618] Chr4:125319439 [GRCh38]
Chr4:126240594 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.11165C>G (p.Pro3722Arg) single nucleotide variant not provided [RCV001874321] Chr4:125452175 [GRCh38]
Chr4:126373330 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.3095C>T (p.Ala1032Val) single nucleotide variant Inborn genetic diseases [RCV003247076]|not provided [RCV001930077] Chr4:125319506 [GRCh38]
Chr4:126240661 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.3458G>C (p.Gly1153Ala) single nucleotide variant not provided [RCV001863733] Chr4:125319869 [GRCh38]
Chr4:126241024 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.3532A>G (p.Thr1178Ala) single nucleotide variant not provided [RCV002045618] Chr4:125319943 [GRCh38]
Chr4:126241098 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.14402G>A (p.Arg4801His) single nucleotide variant Inborn genetic diseases [RCV004043270]|not provided [RCV002008408] Chr4:125491218 [GRCh38]
Chr4:126412373 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.532C>A (p.Arg178Ser) single nucleotide variant not provided [RCV001893590] Chr4:125316943 [GRCh38]
Chr4:126238098 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.475G>T (p.Ala159Ser) single nucleotide variant not provided [RCV001928210] Chr4:125316886 [GRCh38]
Chr4:126238041 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.3708T>A (p.Asp1236Glu) single nucleotide variant not provided [RCV001863754] Chr4:125320119 [GRCh38]
Chr4:126241274 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.3818T>C (p.Leu1273Ser) single nucleotide variant not provided [RCV001988460] Chr4:125320229 [GRCh38]
Chr4:126241384 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.1898G>T (p.Arg633Leu) single nucleotide variant not provided [RCV001966311] Chr4:125318309 [GRCh38]
Chr4:126239464 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.14864T>C (p.Leu4955Pro) single nucleotide variant not provided [RCV001950060] Chr4:125491680 [GRCh38]
Chr4:126412835 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.2200T>C (p.Ser734Pro) single nucleotide variant not provided [RCV001912522] Chr4:125318611 [GRCh38]
Chr4:126239766 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.8821A>G (p.Thr2941Ala) single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 2 [RCV003147706]|Van Maldergem syndrome 2 [RCV003147705]|not provided [RCV001929227] Chr4:125449831 [GRCh38]
Chr4:126370986 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.5122G>T (p.Asp1708Tyr) single nucleotide variant not provided [RCV001971096] Chr4:125321533 [GRCh38]
Chr4:126242688 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.2834A>G (p.Lys945Arg) single nucleotide variant Inborn genetic diseases [RCV003167157]|not provided [RCV001910236] Chr4:125319245 [GRCh38]
Chr4:126240400 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.3641T>A (p.Phe1214Tyr) single nucleotide variant not provided [RCV001966522] Chr4:125320052 [GRCh38]
Chr4:126241207 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.10093C>A (p.Arg3365=) single nucleotide variant not provided [RCV002008342] Chr4:125451103 [GRCh38]
Chr4:126372258 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.14604_14605delinsGC (p.Met4869Leu) indel not provided [RCV001894925] Chr4:125491420..125491421 [GRCh38]
Chr4:126412575..126412576 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.13254T>G (p.Ile4418Met) single nucleotide variant not provided [RCV001914398] Chr4:125490070 [GRCh38]
Chr4:126411225 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.634G>T (p.Val212Phe) single nucleotide variant not provided [RCV001908410] Chr4:125317045 [GRCh38]
Chr4:126238200 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.6109G>A (p.Val2037Ile) single nucleotide variant Inborn genetic diseases [RCV002564333]|not provided [RCV002002147] Chr4:125415072 [GRCh38]
Chr4:126336227 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.7801A>G (p.Met2601Val) single nucleotide variant not provided [RCV002044243] Chr4:125448811 [GRCh38]
Chr4:126369966 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.2382T>G (p.Ser794Arg) single nucleotide variant not provided [RCV002008351] Chr4:125318793 [GRCh38]
Chr4:126239948 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.14842G>A (p.Val4948Ile) single nucleotide variant not provided [RCV001987723] Chr4:125491658 [GRCh38]
Chr4:126412813 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.14368T>C (p.Ser4790Pro) single nucleotide variant not provided [RCV002004331] Chr4:125491184 [GRCh38]
Chr4:126412339 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.14205G>A (p.Met4735Ile) single nucleotide variant not provided [RCV002024887] Chr4:125491021 [GRCh38]
Chr4:126412176 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.4198C>T (p.Arg1400Cys) single nucleotide variant not provided [RCV002025484] Chr4:125320609 [GRCh38]
Chr4:126241764 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.13606G>A (p.Ala4536Thr) single nucleotide variant Inborn genetic diseases [RCV003170311]|not provided [RCV001971452] Chr4:125490422 [GRCh38]
Chr4:126411577 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.1687G>T (p.Val563Leu) single nucleotide variant not provided [RCV001915254] Chr4:125318098 [GRCh38]
Chr4:126239253 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.14401C>T (p.Arg4801Cys) single nucleotide variant not provided [RCV001969988] Chr4:125491217 [GRCh38]
Chr4:126412372 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.9046G>A (p.Gly3016Arg) single nucleotide variant not provided [RCV002008450] Chr4:125450056 [GRCh38]
Chr4:126371211 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.4502A>C (p.Gln1501Pro) single nucleotide variant Inborn genetic diseases [RCV004039921]|not provided [RCV001929806] Chr4:125320913 [GRCh38]
Chr4:126242068 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.11161G>A (p.Val3721Ile) single nucleotide variant not provided [RCV002022330] Chr4:125452171 [GRCh38]
Chr4:126373326 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.4664C>G (p.Pro1555Arg) single nucleotide variant not provided [RCV001927606] Chr4:125321075 [GRCh38]
Chr4:126242230 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.5692T>C (p.Phe1898Leu) single nucleotide variant not provided [RCV002008401] Chr4:125408566 [GRCh38]
Chr4:126329721 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.3614A>T (p.Asp1205Val) single nucleotide variant not provided [RCV001970965] Chr4:125320025 [GRCh38]
Chr4:126241180 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.9441A>G (p.Ile3147Met) single nucleotide variant not provided [RCV001971159] Chr4:125450451 [GRCh38]
Chr4:126371606 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.578C>T (p.Pro193Leu) single nucleotide variant not provided [RCV002045395] Chr4:125316989 [GRCh38]
Chr4:126238144 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.11246C>T (p.Ala3749Val) single nucleotide variant not provided [RCV001874749] Chr4:125452256 [GRCh38]
Chr4:126373411 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.9740C>T (p.Pro3247Leu) single nucleotide variant not provided [RCV002005214] Chr4:125450750 [GRCh38]
Chr4:126371905 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.11411A>G (p.Asp3804Gly) single nucleotide variant not provided [RCV002024595] Chr4:125452421 [GRCh38]
Chr4:126373576 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.5380G>A (p.Gly1794Arg) single nucleotide variant not provided [RCV001896121] Chr4:125406952 [GRCh38]
Chr4:126328107 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.11324A>G (p.Tyr3775Cys) single nucleotide variant not provided [RCV001986589] Chr4:125452334 [GRCh38]
Chr4:126373489 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.1361C>A (p.Ala454Glu) single nucleotide variant Inborn genetic diseases [RCV004616849]|not provided [RCV001915495] Chr4:125317772 [GRCh38]
Chr4:126238927 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.929C>A (p.Pro310His) single nucleotide variant not provided [RCV002005280] Chr4:125317340 [GRCh38]
Chr4:126238495 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.10031G>A (p.Arg3344Gln) single nucleotide variant Van Maldergem syndrome 2 [RCV004594601]|not provided [RCV001894821] Chr4:125451041 [GRCh38]
Chr4:126372196 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.987C>T (p.Gly329=) single nucleotide variant not provided [RCV001874449] Chr4:125317398 [GRCh38]
Chr4:126238553 [GRCh37]
Chr4:4q28.1		 likely benign|uncertain significance
NM_001291303.3(FAT4):c.1898G>A (p.Arg633His) single nucleotide variant not provided [RCV001874992] Chr4:125318309 [GRCh38]
Chr4:126239464 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.8344C>T (p.His2782Tyr) single nucleotide variant not provided [RCV001970507] Chr4:125449354 [GRCh38]
Chr4:126370509 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.5230A>G (p.Met1744Val) single nucleotide variant not provided [RCV001988251] Chr4:125398838 [GRCh38]
Chr4:126319993 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.6308A>G (p.Asp2103Gly) single nucleotide variant not provided [RCV001913493] Chr4:125415271 [GRCh38]
Chr4:126336426 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.9496_9497delinsGC (p.Ile3166Ala) indel not provided [RCV001967656] Chr4:125450506..125450507 [GRCh38]
Chr4:126371661..126371662 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.9087C>A (p.Asn3029Lys) single nucleotide variant not provided [RCV001891208] Chr4:125450097 [GRCh38]
Chr4:126371252 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.5645A>G (p.Glu1882Gly) single nucleotide variant Inborn genetic diseases [RCV002564415]|not provided [RCV001983284] Chr4:125408519 [GRCh38]
Chr4:126329674 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.1273G>C (p.Ala425Pro) single nucleotide variant not provided [RCV001986146] Chr4:125317684 [GRCh38]
Chr4:126238839 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.1276T>A (p.Leu426Met) single nucleotide variant not provided [RCV001984891] Chr4:125317687 [GRCh38]
Chr4:126238842 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.2620A>G (p.Thr874Ala) single nucleotide variant Inborn genetic diseases [RCV004043381]|not provided [RCV001910244] Chr4:125319031 [GRCh38]
Chr4:126240186 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.14476T>C (p.Ser4826Pro) single nucleotide variant not provided [RCV002004196] Chr4:125491292 [GRCh38]
Chr4:126412447 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.5860A>G (p.Met1954Val) single nucleotide variant not provided [RCV001891671] Chr4:125408734 [GRCh38]
Chr4:126329889 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.11920C>T (p.His3974Tyr) single nucleotide variant not provided [RCV002023269] Chr4:125468526 [GRCh38]
Chr4:126389681 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.9784A>G (p.Thr3262Ala) single nucleotide variant not provided [RCV001892504] Chr4:125450794 [GRCh38]
Chr4:126371949 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.14109C>G (p.His4703Gln) single nucleotide variant not provided [RCV001872198] Chr4:125490925 [GRCh38]
Chr4:126412080 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.6160C>G (p.Pro2054Ala) single nucleotide variant not provided [RCV001984517] Chr4:125415123 [GRCh38]
Chr4:126336278 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.5806G>A (p.Asp1936Asn) single nucleotide variant Inborn genetic diseases [RCV004044269]|not provided [RCV001926623] Chr4:125408680 [GRCh38]
Chr4:126329835 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.11462G>A (p.Arg3821Gln) single nucleotide variant Inborn genetic diseases [RCV004616967]|not provided [RCV002021630] Chr4:125452472 [GRCh38]
Chr4:126373627 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.5689G>T (p.Val1897Phe) single nucleotide variant not provided [RCV002042125] Chr4:125408563 [GRCh38]
Chr4:126329718 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.1537A>G (p.Ser513Gly) single nucleotide variant not provided [RCV002041571] Chr4:125317948 [GRCh38]
Chr4:126239103 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.4604T>G (p.Leu1535Arg) single nucleotide variant not provided [RCV001908921] Chr4:125321015 [GRCh38]
Chr4:126242170 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.13666G>A (p.Val4556Ile) single nucleotide variant not provided [RCV002005017] Chr4:125490482 [GRCh38]
Chr4:126411637 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.8247C>G (p.Asp2749Glu) single nucleotide variant not provided [RCV001892493] Chr4:125449257 [GRCh38]
Chr4:126370412 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.7189G>A (p.Ala2397Thr) single nucleotide variant not provided [RCV001912215] Chr4:125434415 [GRCh38]
Chr4:126355570 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.1980G>A (p.Leu660=) single nucleotide variant not provided [RCV001871352] Chr4:125318391 [GRCh38]
Chr4:126239546 [GRCh37]
Chr4:4q28.1		 likely benign|uncertain significance
NM_001291303.3(FAT4):c.6532G>A (p.Ala2178Thr) single nucleotide variant not provided [RCV001946596] Chr4:125415495 [GRCh38]
Chr4:126336650 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.821C>T (p.Ala274Val) single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 2 [RCV004558745]|Inborn genetic diseases [RCV003247194]|not provided [RCV001946071] Chr4:125317232 [GRCh38]
Chr4:126238387 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.8252G>T (p.Gly2751Val) single nucleotide variant not provided [RCV001912621] Chr4:125449262 [GRCh38]
Chr4:126370417 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.11134G>T (p.Asp3712Tyr) single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 2 [RCV003458238]|not provided [RCV001970420] Chr4:125452144 [GRCh38]
Chr4:126373299 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.14836G>T (p.Val4946Leu) single nucleotide variant not provided [RCV001965816] Chr4:125491652 [GRCh38]
Chr4:126412807 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.14815G>C (p.Gly4939Arg) single nucleotide variant not provided [RCV001968714] Chr4:125491631 [GRCh38]
Chr4:126412786 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.12745G>A (p.Glu4249Lys) single nucleotide variant not provided [RCV001872883] Chr4:125481661 [GRCh38]
Chr4:126402816 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.5392G>A (p.Ala1798Thr) single nucleotide variant not provided [RCV002005389] Chr4:125406964 [GRCh38]
Chr4:126328119 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.13678G>A (p.Asp4560Asn) single nucleotide variant not provided [RCV001891022] Chr4:125490494 [GRCh38]
Chr4:126411649 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.11966A>C (p.Glu3989Ala) single nucleotide variant Inborn genetic diseases [RCV002551146]|not provided [RCV001872899] Chr4:125468572 [GRCh38]
Chr4:126389727 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.8456C>A (p.Pro2819Gln) single nucleotide variant not provided [RCV001948802] Chr4:125449466 [GRCh38]
Chr4:126370621 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.6970C>T (p.Arg2324Trp) single nucleotide variant not provided [RCV002043939]|not specified [RCV004526176] Chr4:125416574 [GRCh38]
Chr4:126337729 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.14093A>G (p.Asn4698Ser) single nucleotide variant not provided [RCV001909728] Chr4:125490909 [GRCh38]
Chr4:126412064 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.1903G>T (p.Asp635Tyr) single nucleotide variant not provided [RCV002021452] Chr4:125318314 [GRCh38]
Chr4:126239469 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.4706A>G (p.Asn1569Ser) single nucleotide variant Inborn genetic diseases [RCV002554151]|not provided [RCV001891251] Chr4:125321117 [GRCh38]
Chr4:126242272 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.14530A>T (p.Ser4844Cys) single nucleotide variant Inborn genetic diseases [RCV002573380]|not provided [RCV002005278] Chr4:125491346 [GRCh38]
Chr4:126412501 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.1738C>G (p.Pro580Ala) single nucleotide variant not provided [RCV001969875] Chr4:125318149 [GRCh38]
Chr4:126239304 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.13549G>T (p.Val4517Phe) single nucleotide variant not provided [RCV002044255] Chr4:125490365 [GRCh38]
Chr4:126411520 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.8251G>C (p.Gly2751Arg) single nucleotide variant not provided [RCV001913973] Chr4:125449261 [GRCh38]
Chr4:126370416 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.1787C>T (p.Ala596Val) single nucleotide variant not provided [RCV002041899] Chr4:125318198 [GRCh38]
Chr4:126239353 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.11039C>T (p.Thr3680Met) single nucleotide variant Van Maldergem syndrome 2 [RCV004728980]|not provided [RCV001985210] Chr4:125452049 [GRCh38]
Chr4:126373204 [GRCh37]
Chr4:4q28.1		 likely benign|uncertain significance
NM_001291303.3(FAT4):c.9824T>G (p.Val3275Gly) single nucleotide variant Inborn genetic diseases [RCV004041552]|not provided [RCV001891319] Chr4:125450834 [GRCh38]
Chr4:126371989 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.6938G>A (p.Ser2313Asn) single nucleotide variant not provided [RCV002021304] Chr4:125416542 [GRCh38]
Chr4:126337697 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.5573C>G (p.Ser1858Cys) single nucleotide variant not provided [RCV001970523] Chr4:125408447 [GRCh38]
Chr4:126329602 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.10336A>G (p.Ile3446Val) single nucleotide variant not provided [RCV002005888] Chr4:125451346 [GRCh38]
Chr4:126372501 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.5533G>A (p.Val1845Met) single nucleotide variant not provided [RCV002023143] Chr4:125407105 [GRCh38]
Chr4:126328260 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.6099C>T (p.Ser2033=) single nucleotide variant not provided [RCV001894673] Chr4:125415062 [GRCh38]
Chr4:126336217 [GRCh37]
Chr4:4q28.1		 likely benign|uncertain significance
NM_001291303.3(FAT4):c.2014A>G (p.Met672Val) single nucleotide variant not provided [RCV002024691] Chr4:125318425 [GRCh38]
Chr4:126239580 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.12908A>T (p.Asp4303Val) single nucleotide variant not provided [RCV002024708] Chr4:125487430 [GRCh38]
Chr4:126408585 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.5490T>G (p.Thr1830=) single nucleotide variant not provided [RCV002022057] Chr4:125407062 [GRCh38]
Chr4:126328217 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.4413A>G (p.Ile1471Met) single nucleotide variant Inborn genetic diseases [RCV002545645]|not provided [RCV002044334] Chr4:125320824 [GRCh38]
Chr4:126241979 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.14376A>C (p.Glu4792Asp) single nucleotide variant not provided [RCV001983710] Chr4:125491192 [GRCh38]
Chr4:126412347 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.11792G>T (p.Gly3931Val) single nucleotide variant not provided [RCV001966674] Chr4:125452802 [GRCh38]
Chr4:126373957 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.14371A>T (p.Ile4791Phe) single nucleotide variant not provided [RCV001894240] Chr4:125491187 [GRCh38]
Chr4:126412342 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.4496A>G (p.Asn1499Ser) single nucleotide variant not provided [RCV002023783] Chr4:125320907 [GRCh38]
Chr4:126242062 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.10882A>C (p.Asn3628His) single nucleotide variant not provided [RCV001969945] Chr4:125451892 [GRCh38]
Chr4:126373047 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.400G>T (p.Val134Phe) single nucleotide variant not provided [RCV001983909] Chr4:125316811 [GRCh38]
Chr4:126237966 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.1273G>T (p.Ala425Ser) single nucleotide variant Inborn genetic diseases [RCV004616919]|not provided [RCV001968394] Chr4:125317684 [GRCh38]
Chr4:126238839 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.2287A>G (p.Ile763Val) single nucleotide variant not provided [RCV001927509] Chr4:125318698 [GRCh38]
Chr4:126239853 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.2921del (p.Pro974fs) deletion not provided [RCV002002419] Chr4:125319330 [GRCh38]
Chr4:126240485 [GRCh37]
Chr4:4q28.1		 pathogenic
NM_001291303.3(FAT4):c.2821G>T (p.Ala941Ser) single nucleotide variant not provided [RCV001983915] Chr4:125319232 [GRCh38]
Chr4:126240387 [GRCh37]
Chr4:4q28.1		 uncertain significance
GRCh37/hg19 4q24-31.21(chr4:104715235-145252595) copy number gain not specified [RCV002053446] Chr4:104715235..145252595 [GRCh37]
Chr4:4q24-31.21		 pathogenic
NM_001291303.3(FAT4):c.949C>T (p.Arg317Cys) single nucleotide variant not provided [RCV002006091] Chr4:125317360 [GRCh38]
Chr4:126238515 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.11843C>T (p.Pro3948Leu) single nucleotide variant not provided [RCV001912251] Chr4:125463605 [GRCh38]
Chr4:126384760 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.10940A>G (p.Asp3647Gly) single nucleotide variant not provided [RCV001968481]|not specified [RCV003388070] Chr4:125451950 [GRCh38]
Chr4:126373105 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.9119C>T (p.Thr3040Met) single nucleotide variant Inborn genetic diseases [RCV004046859]|not provided [RCV002023900] Chr4:125450129 [GRCh38]
Chr4:126371284 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.5501T>G (p.Val1834Gly) single nucleotide variant Inborn genetic diseases [RCV003289166]|not provided [RCV001892084] Chr4:125407073 [GRCh38]
Chr4:126328228 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.2265A>C (p.Glu755Asp) single nucleotide variant not provided [RCV001913084] Chr4:125318676 [GRCh38]
Chr4:126239831 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.4050A>G (p.Leu1350=) single nucleotide variant not provided [RCV001928698] Chr4:125320461 [GRCh38]
Chr4:126241616 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.5623G>C (p.Glu1875Gln) single nucleotide variant not provided [RCV002021253] Chr4:125408497 [GRCh38]
Chr4:126329652 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.4549A>C (p.Ile1517Leu) single nucleotide variant Inborn genetic diseases [RCV004041001]|not provided [RCV001823417] Chr4:125320960 [GRCh38]
Chr4:126242115 [GRCh37]
Chr4:4q28.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_001291303.3(FAT4):c.5573C>T (p.Ser1858Phe) single nucleotide variant not provided [RCV002003163] Chr4:125408447 [GRCh38]
Chr4:126329602 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.10271A>G (p.His3424Arg) single nucleotide variant not provided [RCV001914209] Chr4:125451281 [GRCh38]
Chr4:126372436 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.14719A>G (p.Thr4907Ala) single nucleotide variant Inborn genetic diseases [RCV003375533]|not provided [RCV001984231] Chr4:125491535 [GRCh38]
Chr4:126412690 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.3622C>T (p.Pro1208Ser) single nucleotide variant not provided [RCV001890748] Chr4:125320033 [GRCh38]
Chr4:126241188 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.5939C>T (p.Thr1980Ile) single nucleotide variant not provided [RCV001982819] Chr4:125414902 [GRCh38]
Chr4:126336057 [GRCh37]
Chr4:4q28.1		 uncertain significance
GRCh37/hg19 4q12-31.21(chr4:52866944-143582507)x3 copy number gain not provided [RCV001827738] Chr4:52866944..143582507 [GRCh37]
Chr4:4q12-31.21		 pathogenic
NM_001291303.3(FAT4):c.3364G>C (p.Val1122Leu) single nucleotide variant not provided [RCV002003564] Chr4:125319775 [GRCh38]
Chr4:126240930 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.902A>C (p.Glu301Ala) single nucleotide variant not provided [RCV002040851] Chr4:125317313 [GRCh38]
Chr4:126238468 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.5505T>A (p.Asn1835Lys) single nucleotide variant not provided [RCV001892489] Chr4:125407077 [GRCh38]
Chr4:126328232 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.3346G>T (p.Gly1116Trp) single nucleotide variant not provided [RCV001927253] Chr4:125319757 [GRCh38]
Chr4:126240912 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.12414G>T (p.Glu4138Asp) single nucleotide variant not provided [RCV002005024] Chr4:125477269 [GRCh38]
Chr4:126398424 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.8849G>C (p.Arg2950Thr) single nucleotide variant not provided [RCV001893129] Chr4:125449859 [GRCh38]
Chr4:126371014 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.10868T>C (p.Val3623Ala) single nucleotide variant Inborn genetic diseases [RCV003164023]|not provided [RCV002041808] Chr4:125451878 [GRCh38]
Chr4:126373033 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.14138C>T (p.Thr4713Met) single nucleotide variant not provided [RCV001913485] Chr4:125490954 [GRCh38]
Chr4:126412109 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.4038C>A (p.Asp1346Glu) single nucleotide variant not provided [RCV001969727] Chr4:125320449 [GRCh38]
Chr4:126241604 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.7451G>C (p.Gly2484Ala) single nucleotide variant not provided [RCV001969237] Chr4:125448461 [GRCh38]
Chr4:126369616 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.3896G>A (p.Cys1299Tyr) single nucleotide variant not provided [RCV002043836] Chr4:125320307 [GRCh38]
Chr4:126241462 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.8693C>T (p.Ala2898Val) single nucleotide variant not provided [RCV001986593] Chr4:125449703 [GRCh38]
Chr4:126370858 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.10643A>G (p.Tyr3548Cys) single nucleotide variant Inborn genetic diseases [RCV003348603]|Van Maldergem syndrome 2 [RCV002074434]|not provided [RCV001927902] Chr4:125451653 [GRCh38]
Chr4:126372808 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.1846G>A (p.Gly616Arg) single nucleotide variant not provided [RCV001872513] Chr4:125318257 [GRCh38]
Chr4:126239412 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.1569C>G (p.Phe523Leu) single nucleotide variant not provided [RCV001889624] Chr4:125317980 [GRCh38]
Chr4:126239135 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.14689G>A (p.Gly4897Ser) single nucleotide variant not provided [RCV001969505] Chr4:125491505 [GRCh38]
Chr4:126412660 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.10357G>A (p.Gly3453Ser) single nucleotide variant FAT4-related disorder [RCV003407927]|Inborn genetic diseases [RCV004616858]|not provided [RCV001913361] Chr4:125451367 [GRCh38]
Chr4:126372522 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.1448A>G (p.Asn483Ser) single nucleotide variant not provided [RCV001909671] Chr4:125317859 [GRCh38]
Chr4:126239014 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.11321A>G (p.Gln3774Arg) single nucleotide variant not provided [RCV001964472] Chr4:125452331 [GRCh38]
Chr4:126373486 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.9702T>A (p.Thr3234=) single nucleotide variant not provided [RCV001889605] Chr4:125450712 [GRCh38]
Chr4:126371867 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.13625_13626insAAA (p.Lys4544dup) insertion not provided [RCV001908585] Chr4:125490440..125490441 [GRCh38]
Chr4:126411595..126411596 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.3836C>T (p.Pro1279Leu) single nucleotide variant not provided [RCV002006531] Chr4:125320247 [GRCh38]
Chr4:126241402 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.7963G>A (p.Glu2655Lys) single nucleotide variant not provided [RCV001948094] Chr4:125448973 [GRCh38]
Chr4:126370128 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.4736G>A (p.Arg1579His) single nucleotide variant not provided [RCV002002746] Chr4:125321147 [GRCh38]
Chr4:126242302 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.7621C>T (p.His2541Tyr) single nucleotide variant not provided [RCV002003864] Chr4:125448631 [GRCh38]
Chr4:126369786 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.5708T>C (p.Leu1903Ser) single nucleotide variant not provided [RCV002043629] Chr4:125408582 [GRCh38]
Chr4:126329737 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.2704G>A (p.Val902Met) single nucleotide variant not provided [RCV002002799] Chr4:125319115 [GRCh38]
Chr4:126240270 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.14037A>G (p.Ser4679=) single nucleotide variant not provided [RCV001927971] Chr4:125490853 [GRCh38]
Chr4:126412008 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.760C>T (p.His254Tyr) single nucleotide variant not provided [RCV002041209] Chr4:125317171 [GRCh38]
Chr4:126238326 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.7969C>G (p.Leu2657Val) single nucleotide variant not provided [RCV001872424] Chr4:125448979 [GRCh38]
Chr4:126370134 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.10276A>G (p.Thr3426Ala) single nucleotide variant not provided [RCV001910140] Chr4:125451286 [GRCh38]
Chr4:126372441 [GRCh37]
Chr4:4q28.1		 uncertain significance
GRCh37/hg19 4q26-28.2(chr4:116888785-129649979) copy number loss not specified [RCV002053451] Chr4:116888785..129649979 [GRCh37]
Chr4:4q26-28.2		 pathogenic
NM_001291303.3(FAT4):c.12310G>A (p.Val4104Ile) single nucleotide variant not provided [RCV002020849] Chr4:125477165 [GRCh38]
Chr4:126398320 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.12479+4T>C single nucleotide variant not provided [RCV002020876] Chr4:125477338 [GRCh38]
Chr4:126398493 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.12400G>A (p.Gly4134Arg) single nucleotide variant not provided [RCV001982764] Chr4:125477255 [GRCh38]
Chr4:126398410 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.8545G>A (p.Ala2849Thr) single nucleotide variant not provided [RCV001965731] Chr4:125449555 [GRCh38]
Chr4:126370710 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.14818C>T (p.Pro4940Ser) single nucleotide variant not provided [RCV002012855] Chr4:125491634 [GRCh38]
Chr4:126412789 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.2824A>G (p.Ile942Val) single nucleotide variant FAT4-related disorder [RCV003941184]|Van Maldergem syndrome 2 [RCV004728872]|not provided [RCV001961819] Chr4:125319235 [GRCh38]
Chr4:126240390 [GRCh37]
Chr4:4q28.1		 likely benign|uncertain significance
NM_001291303.3(FAT4):c.7876A>C (p.Ser2626Arg) single nucleotide variant FAT4-related disorder [RCV003407910]|not provided [RCV001887198] Chr4:125448886 [GRCh38]
Chr4:126370041 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.2689A>G (p.Ile897Val) single nucleotide variant FAT4-related disorder [RCV003395246]|not provided [RCV001942660] Chr4:125319100 [GRCh38]
Chr4:126240255 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.12067G>A (p.Asp4023Asn) single nucleotide variant not provided [RCV001975299] Chr4:125468673 [GRCh38]
Chr4:126389828 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.13925A>G (p.Lys4642Arg) single nucleotide variant not provided [RCV001880322] Chr4:125490741 [GRCh38]
Chr4:126411896 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.9863T>G (p.Ile3288Arg) single nucleotide variant not provided [RCV002017572] Chr4:125450873 [GRCh38]
Chr4:126372028 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.6832A>T (p.Thr2278Ser) single nucleotide variant not provided [RCV002046915] Chr4:125415795 [GRCh38]
Chr4:126336950 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.10910C>T (p.Ser3637Phe) single nucleotide variant not provided [RCV001974077] Chr4:125451920 [GRCh38]
Chr4:126373075 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.6851C>T (p.Ala2284Val) single nucleotide variant not provided [RCV001867326] Chr4:125416455 [GRCh38]
Chr4:126337610 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.12032C>T (p.Ala4011Val) single nucleotide variant not provided [RCV001878874] Chr4:125468638 [GRCh38]
Chr4:126389793 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.1613G>A (p.Gly538Glu) single nucleotide variant Inborn genetic diseases [RCV002545643]|not provided [RCV002050785] Chr4:125318024 [GRCh38]
Chr4:126239179 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.10145G>A (p.Ser3382Asn) single nucleotide variant not provided [RCV001978339] Chr4:125451155 [GRCh38]
Chr4:126372310 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.8384G>A (p.Arg2795His) single nucleotide variant not provided [RCV002036040] Chr4:125449394 [GRCh38]
Chr4:126370549 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.3926A>G (p.Asn1309Ser) single nucleotide variant not provided [RCV001941277] Chr4:125320337 [GRCh38]
Chr4:126241492 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.4966C>A (p.Pro1656Thr) single nucleotide variant not provided [RCV002036830] Chr4:125321377 [GRCh38]
Chr4:126242532 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.458A>G (p.Gln153Arg) single nucleotide variant Inborn genetic diseases [RCV002562737]|not provided [RCV001962491] Chr4:125316869 [GRCh38]
Chr4:126238024 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.9200G>A (p.Gly3067Glu) single nucleotide variant not provided [RCV001887733] Chr4:125450210 [GRCh38]
Chr4:126371365 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.10G>A (p.Ala4Thr) single nucleotide variant not provided [RCV002000862] Chr4:125316421 [GRCh38]
Chr4:126237576 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.12475G>T (p.Asp4159Tyr) single nucleotide variant not provided [RCV001944825] Chr4:125477330 [GRCh38]
Chr4:126398485 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.11587A>G (p.Ile3863Val) single nucleotide variant not provided [RCV001993941] Chr4:125452597 [GRCh38]
Chr4:126373752 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.9494C>T (p.Thr3165Met) single nucleotide variant not provided [RCV002017897] Chr4:125450504 [GRCh38]
Chr4:126371659 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.7717G>A (p.Glu2573Lys) single nucleotide variant not provided [RCV001980294] Chr4:125448727 [GRCh38]
Chr4:126369882 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.7757C>G (p.Ser2586Cys) single nucleotide variant not provided [RCV002017923] Chr4:125448767 [GRCh38]
Chr4:126369922 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.14906C>T (p.Thr4969Ile) single nucleotide variant not provided [RCV001907003] Chr4:125491722 [GRCh38]
Chr4:126412877 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.10060A>G (p.Thr3354Ala) single nucleotide variant not provided [RCV001962527] Chr4:125451070 [GRCh38]
Chr4:126372225 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.10994G>C (p.Gly3665Ala) single nucleotide variant not provided [RCV002038607] Chr4:125452004 [GRCh38]
Chr4:126373159 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.1619T>G (p.Leu540Arg) single nucleotide variant not provided [RCV001980910] Chr4:125318030 [GRCh38]
Chr4:126239185 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.2608G>A (p.Gly870Arg) single nucleotide variant not provided [RCV001898219] Chr4:125319019 [GRCh38]
Chr4:126240174 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.779C>T (p.Pro260Leu) single nucleotide variant not provided [RCV001992660] Chr4:125317190 [GRCh38]
Chr4:126238345 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.4219G>C (p.Val1407Leu) single nucleotide variant not provided [RCV001961193] Chr4:125320630 [GRCh38]
Chr4:126241785 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.10339G>A (p.Gly3447Arg) single nucleotide variant not provided [RCV001944186] Chr4:125451349 [GRCh38]
Chr4:126372504 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.8636A>G (p.Tyr2879Cys) single nucleotide variant Inborn genetic diseases [RCV002561458]|not provided [RCV001960157] Chr4:125449646 [GRCh38]
Chr4:126370801 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.4382A>G (p.Gln1461Arg) single nucleotide variant not provided [RCV001924939] Chr4:125320793 [GRCh38]
Chr4:126241948 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.3122G>A (p.Gly1041Glu) single nucleotide variant not provided [RCV001941338] Chr4:125319533 [GRCh38]
Chr4:126240688 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.8164C>T (p.His2722Tyr) single nucleotide variant not provided [RCV001944332] Chr4:125449174 [GRCh38]
Chr4:126370329 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.11341G>A (p.Val3781Ile) single nucleotide variant not provided [RCV001952182] Chr4:125452351 [GRCh38]
Chr4:126373506 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.6518T>C (p.Ile2173Thr) single nucleotide variant not provided [RCV002029885] Chr4:125415481 [GRCh38]
Chr4:126336636 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.14471C>T (p.Pro4824Leu) single nucleotide variant not provided [RCV001937816] Chr4:125491287 [GRCh38]
Chr4:126412442 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.9990C>T (p.Gly3330=) single nucleotide variant not provided [RCV002047286] Chr4:125451000 [GRCh38]
Chr4:126372155 [GRCh37]
Chr4:4q28.1		 likely benign|uncertain significance
NM_001291303.3(FAT4):c.7024C>T (p.Pro2342Ser) single nucleotide variant not provided [RCV001877892] Chr4:125434250 [GRCh38]
Chr4:126355405 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.2225G>A (p.Ser742Asn) single nucleotide variant not provided [RCV001942841] Chr4:125318636 [GRCh38]
Chr4:126239791 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.7949C>T (p.Pro2650Leu) single nucleotide variant not provided [RCV001888690] Chr4:125448959 [GRCh38]
Chr4:126370114 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.5354A>G (p.Asp1785Gly) single nucleotide variant not provided [RCV001998279] Chr4:125406926 [GRCh38]
Chr4:126328081 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.3797A>G (p.Gln1266Arg) single nucleotide variant not provided [RCV001867776] Chr4:125320208 [GRCh38]
Chr4:126241363 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.550C>G (p.Arg184Gly) single nucleotide variant not provided [RCV002031466] Chr4:125316961 [GRCh38]
Chr4:126238116 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.4584G>A (p.Met1528Ile) single nucleotide variant not provided [RCV001884554] Chr4:125320995 [GRCh38]
Chr4:126242150 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.2555A>G (p.Asn852Ser) single nucleotide variant not provided [RCV001888726] Chr4:125318966 [GRCh38]
Chr4:126240121 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.5035C>T (p.Arg1679Cys) single nucleotide variant not provided [RCV001930393] Chr4:125321446 [GRCh38]
Chr4:126242601 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.7831G>A (p.Gly2611Ser) single nucleotide variant not provided [RCV002030162] Chr4:125448841 [GRCh38]
Chr4:126369996 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.848C>T (p.Ala283Val) single nucleotide variant not provided [RCV001924769] Chr4:125317259 [GRCh38]
Chr4:126238414 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.629G>T (p.Arg210Leu) single nucleotide variant not provided [RCV002039143] Chr4:125317040 [GRCh38]
Chr4:126238195 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.4069A>T (p.Thr1357Ser) single nucleotide variant not provided [RCV002019109] Chr4:125320480 [GRCh38]
Chr4:126241635 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.1258A>G (p.Ile420Val) single nucleotide variant not provided [RCV001918487] Chr4:125317669 [GRCh38]
Chr4:126238824 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.13837G>A (p.Ala4613Thr) single nucleotide variant Inborn genetic diseases [RCV003355738]|not provided [RCV002030282] Chr4:125490653 [GRCh38]
Chr4:126411808 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.14693G>A (p.Arg4898His) single nucleotide variant not provided [RCV001881256] Chr4:125491509 [GRCh38]
Chr4:126412664 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.12115T>G (p.Phe4039Val) single nucleotide variant not provided [RCV002001045] Chr4:125468721 [GRCh38]
Chr4:126389876 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.9454A>G (p.Lys3152Glu) single nucleotide variant not provided [RCV002038365] Chr4:125450464 [GRCh38]
Chr4:126371619 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.2791A>G (p.Ser931Gly) single nucleotide variant not provided [RCV002027792] Chr4:125319202 [GRCh38]
Chr4:126240357 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.1642A>G (p.Ile548Val) single nucleotide variant not provided [RCV002015344] Chr4:125318053 [GRCh38]
Chr4:126239208 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.13305C>A (p.His4435Gln) single nucleotide variant not provided [RCV002015423] Chr4:125490121 [GRCh38]
Chr4:126411276 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.1089C>G (p.Arg363=) single nucleotide variant not provided [RCV002000663] Chr4:125317500 [GRCh38]
Chr4:126238655 [GRCh37]
Chr4:4q28.1		 likely benign|uncertain significance
NM_001291303.3(FAT4):c.2376A>G (p.Val792=) single nucleotide variant FAT4-related disorder [RCV003958447]|not provided [RCV001963174] Chr4:125318787 [GRCh38]
Chr4:126239942 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.7628A>C (p.Lys2543Thr) single nucleotide variant not provided [RCV001888362] Chr4:125448638 [GRCh38]
Chr4:126369793 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.5846A>G (p.Tyr1949Cys) single nucleotide variant not provided [RCV001998882] Chr4:125408720 [GRCh38]
Chr4:126329875 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.727A>G (p.Ile243Val) single nucleotide variant not provided [RCV001887047] Chr4:125317138 [GRCh38]
Chr4:126238293 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.1828G>A (p.Gly610Arg) single nucleotide variant not provided [RCV001930707] Chr4:125318239 [GRCh38]
Chr4:126239394 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.5284C>G (p.Leu1762Val) single nucleotide variant not provided [RCV002009999] Chr4:125398892 [GRCh38]
Chr4:126320047 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.12097G>A (p.Ala4033Thr) single nucleotide variant not provided [RCV002015540] Chr4:125468703 [GRCh38]
Chr4:126389858 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.9589C>G (p.Leu3197Val) single nucleotide variant not provided [RCV002018975] Chr4:125450599 [GRCh38]
Chr4:126371754 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.13498A>T (p.Ile4500Phe) single nucleotide variant not provided [RCV001961706] Chr4:125490314 [GRCh38]
Chr4:126411469 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.6466C>A (p.Gln2156Lys) single nucleotide variant not provided [RCV002000698] Chr4:125415429 [GRCh38]
Chr4:126336584 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.9656A>G (p.Asn3219Ser) single nucleotide variant not provided [RCV002037986] Chr4:125450666 [GRCh38]
Chr4:126371821 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.6525A>T (p.Gln2175His) single nucleotide variant not provided [RCV002038404] Chr4:125415488 [GRCh38]
Chr4:126336643 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.12768C>T (p.Ser4256=) single nucleotide variant FAT4-related disorder [RCV003893002]|not provided [RCV001979721] Chr4:125481684 [GRCh38]
Chr4:126402839 [GRCh37]
Chr4:4q28.1		 likely benign|uncertain significance
NM_001291303.3(FAT4):c.1291A>C (p.Ile431Leu) single nucleotide variant not provided [RCV001939901] Chr4:125317702 [GRCh38]
Chr4:126238857 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.9102T>G (p.Phe3034Leu) single nucleotide variant not provided [RCV001961215] Chr4:125450112 [GRCh38]
Chr4:126371267 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.4823C>T (p.Pro1608Leu) single nucleotide variant not provided [RCV002000356] Chr4:125321234 [GRCh38]
Chr4:126242389 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.14486G>C (p.Arg4829Thr) single nucleotide variant Inborn genetic diseases [RCV004045966]|not provided [RCV002012923] Chr4:125491302 [GRCh38]
Chr4:126412457 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.5012G>A (p.Arg1671His) single nucleotide variant not provided [RCV001921119] Chr4:125321423 [GRCh38]
Chr4:126242578 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.1636T>C (p.Ser546Pro) single nucleotide variant not provided [RCV001902450] Chr4:125318047 [GRCh38]
Chr4:126239202 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.327G>A (p.Val109=) single nucleotide variant not provided [RCV001903630] Chr4:125316738 [GRCh38]
Chr4:126237893 [GRCh37]
Chr4:4q28.1		 likely benign|uncertain significance
NM_001291303.3(FAT4):c.5780C>T (p.Thr1927Ile) single nucleotide variant not provided [RCV001882161] Chr4:125408654 [GRCh38]
Chr4:126329809 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.11570C>T (p.Ala3857Val) single nucleotide variant not provided [RCV001904253] Chr4:125452580 [GRCh38]
Chr4:126373735 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.5355T>G (p.Asp1785Glu) single nucleotide variant Van Maldergem syndrome 2 [RCV002479829]|not provided [RCV002049166] Chr4:125406927 [GRCh38]
Chr4:126328082 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.10762A>G (p.Thr3588Ala) single nucleotide variant not provided [RCV002048004] Chr4:125451772 [GRCh38]
Chr4:126372927 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.698A>G (p.Tyr233Cys) single nucleotide variant not provided [RCV001954230] Chr4:125317109 [GRCh38]
Chr4:126238264 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.152T>G (p.Val51Gly) single nucleotide variant not provided [RCV001901716] Chr4:125316563 [GRCh38]
Chr4:126237718 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.6640G>A (p.Ala2214Thr) single nucleotide variant not provided [RCV001919302] Chr4:125415603 [GRCh38]
Chr4:126336758 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.6200C>T (p.Thr2067Ile) single nucleotide variant not provided [RCV002016227] Chr4:125415163 [GRCh38]
Chr4:126336318 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.10592C>A (p.Thr3531Asn) single nucleotide variant not provided [RCV001883042] Chr4:125451602 [GRCh38]
Chr4:126372757 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.7106A>G (p.Tyr2369Cys) single nucleotide variant not provided [RCV002010532] Chr4:125434332 [GRCh38]
Chr4:126355487 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.6575G>A (p.Gly2192Asp) single nucleotide variant not provided [RCV001919367] Chr4:125415538 [GRCh38]
Chr4:126336693 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.9511G>A (p.Gly3171Arg) single nucleotide variant not provided [RCV001917865] Chr4:125450521 [GRCh38]
Chr4:126371676 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.9829G>C (p.Asp3277His) single nucleotide variant not provided [RCV002029465] Chr4:125450839 [GRCh38]
Chr4:126371994 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.14807T>C (p.Leu4936Ser) single nucleotide variant not provided [RCV001867317] Chr4:125491623 [GRCh38]
Chr4:126412778 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.386A>G (p.Asn129Ser) single nucleotide variant not provided [RCV001935825] Chr4:125316797 [GRCh38]
Chr4:126237952 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.6607C>T (p.Arg2203Trp) single nucleotide variant not provided [RCV001953189] Chr4:125415570 [GRCh38]
Chr4:126336725 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.3133G>A (p.Gly1045Ser) single nucleotide variant not provided [RCV002029500] Chr4:125319544 [GRCh38]
Chr4:126240699 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.3479A>G (p.Gln1160Arg) single nucleotide variant not provided [RCV001919217] Chr4:125319890 [GRCh38]
Chr4:126241045 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.5867A>C (p.Asn1956Thr) single nucleotide variant not provided [RCV001898029] Chr4:125408741 [GRCh38]
Chr4:126329896 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.316A>T (p.Ile106Phe) single nucleotide variant not provided [RCV001991240] Chr4:125316727 [GRCh38]
Chr4:126237882 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.11482G>A (p.Val3828Ile) single nucleotide variant not provided [RCV002013119]|not specified [RCV003402040] Chr4:125452492 [GRCh38]
Chr4:126373647 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.446G>A (p.Ser149Asn) single nucleotide variant not provided [RCV001881141] Chr4:125316857 [GRCh38]
Chr4:126238012 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.1966T>C (p.Ser656Pro) single nucleotide variant Inborn genetic diseases [RCV002550302]|not provided [RCV001937116] Chr4:125318377 [GRCh38]
Chr4:126239532 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.10571G>A (p.Arg3524Gln) single nucleotide variant not provided [RCV001931495] Chr4:125451581 [GRCh38]
Chr4:126372736 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.12286G>A (p.Val4096Ile) single nucleotide variant not provided [RCV001975599] Chr4:125476243 [GRCh38]
Chr4:126397398 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.2641A>G (p.Ile881Val) single nucleotide variant Inborn genetic diseases [RCV003348562]|not provided [RCV001879325] Chr4:125319052 [GRCh38]
Chr4:126240207 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.10780C>T (p.Pro3594Ser) single nucleotide variant Inborn genetic diseases [RCV003365569]|not provided [RCV001919691] Chr4:125451790 [GRCh38]
Chr4:126372945 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.4060A>G (p.Ile1354Val) single nucleotide variant Inborn genetic diseases [RCV002592577]|not provided [RCV001976997] Chr4:125320471 [GRCh38]
Chr4:126241626 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.5093G>A (p.Arg1698Gln) single nucleotide variant not provided [RCV001935422] Chr4:125321504 [GRCh38]
Chr4:126242659 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.3470A>C (p.Asn1157Thr) single nucleotide variant not provided [RCV001919748] Chr4:125319881 [GRCh38]
Chr4:126241036 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.8627G>C (p.Arg2876Thr) single nucleotide variant not provided [RCV001956616] Chr4:125449637 [GRCh38]
Chr4:126370792 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.6640G>T (p.Ala2214Ser) single nucleotide variant Inborn genetic diseases [RCV002551043]|not provided [RCV001867680] Chr4:125415603 [GRCh38]
Chr4:126336758 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.4210A>G (p.Met1404Val) single nucleotide variant not provided [RCV002029840] Chr4:125320621 [GRCh38]
Chr4:126241776 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.10189G>A (p.Val3397Met) single nucleotide variant not provided [RCV001954709] Chr4:125451199 [GRCh38]
Chr4:126372354 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.4015G>T (p.Ala1339Ser) single nucleotide variant not provided [RCV001988929] Chr4:125320426 [GRCh38]
Chr4:126241581 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.3736C>T (p.His1246Tyr) single nucleotide variant not provided [RCV001875159] Chr4:125320147 [GRCh38]
Chr4:126241302 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.11277C>A (p.Asn3759Lys) single nucleotide variant not provided [RCV002026149] Chr4:125452287 [GRCh38]
Chr4:126373442 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.469G>T (p.Asp157Tyr) single nucleotide variant not provided [RCV002015211] Chr4:125316880 [GRCh38]
Chr4:126238035 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.8156G>A (p.Ser2719Asn) single nucleotide variant not provided [RCV001930461] Chr4:125449166 [GRCh38]
Chr4:126370321 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.5011C>T (p.Arg1671Cys) single nucleotide variant not provided [RCV001991697] Chr4:125321422 [GRCh38]
Chr4:126242577 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.8903A>G (p.Glu2968Gly) single nucleotide variant not provided [RCV001978856] Chr4:125449913 [GRCh38]
Chr4:126371068 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.13601A>G (p.Lys4534Arg) single nucleotide variant not provided [RCV001904042] Chr4:125490417 [GRCh38]
Chr4:126411572 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.12093A>T (p.Glu4031Asp) single nucleotide variant not provided [RCV002047528] Chr4:125468699 [GRCh38]
Chr4:126389854 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.14684A>G (p.Tyr4895Cys) single nucleotide variant not provided [RCV001919715] Chr4:125491500 [GRCh38]
Chr4:126412655 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.12479+7C>T single nucleotide variant not provided [RCV001864967] Chr4:125477341 [GRCh38]
Chr4:126398496 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.3466A>G (p.Thr1156Ala) single nucleotide variant not provided [RCV001876839] Chr4:125319877 [GRCh38]
Chr4:126241032 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.12347C>T (p.Ser4116Phe) single nucleotide variant not provided [RCV001995914] Chr4:125477202 [GRCh38]
Chr4:126398357 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.5991T>G (p.Asn1997Lys) single nucleotide variant not provided [RCV002027649] Chr4:125414954 [GRCh38]
Chr4:126336109 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.4394G>A (p.Arg1465Lys) single nucleotide variant not provided [RCV002026402] Chr4:125320805 [GRCh38]
Chr4:126241960 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.548G>A (p.Gly183Glu) single nucleotide variant Inborn genetic diseases [RCV002562028]|not provided [RCV001952574] Chr4:125316959 [GRCh38]
Chr4:126238114 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.9520G>A (p.Val3174Ile) single nucleotide variant not provided [RCV001879702] Chr4:125450530 [GRCh38]
Chr4:126371685 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.12023A>T (p.Lys4008Ile) single nucleotide variant not provided [RCV002012391] Chr4:125468629 [GRCh38]
Chr4:126389784 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.5900A>G (p.Asn1967Ser) single nucleotide variant Inborn genetic diseases [RCV004616948]|not provided [RCV001989237] Chr4:125408774 [GRCh38]
Chr4:126329929 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.10767G>A (p.Lys3589=) single nucleotide variant not provided [RCV002009869] Chr4:125451777 [GRCh38]
Chr4:126372932 [GRCh37]
Chr4:4q28.1		 likely benign|uncertain significance
NM_001291303.3(FAT4):c.835G>T (p.Glu279Ter) single nucleotide variant not provided [RCV001953892] Chr4:125317246 [GRCh38]
Chr4:126238401 [GRCh37]
Chr4:4q28.1		 pathogenic
NM_001291303.3(FAT4):c.6796G>C (p.Val2266Leu) single nucleotide variant not provided [RCV001978345] Chr4:125415759 [GRCh38]
Chr4:126336914 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.37T>C (p.Trp13Arg) single nucleotide variant not provided [RCV002016646] Chr4:125316448 [GRCh38]
Chr4:126237603 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.10756G>T (p.Val3586Leu) single nucleotide variant not provided [RCV001901396] Chr4:125451766 [GRCh38]
Chr4:126372921 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.11872G>A (p.Gly3958Ser) single nucleotide variant not provided [RCV002051310] Chr4:125463634 [GRCh38]
Chr4:126384789 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.1827C>T (p.Asp609=) single nucleotide variant not provided [RCV001953972] Chr4:125318238 [GRCh38]
Chr4:126239393 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.13583G>A (p.Cys4528Tyr) single nucleotide variant not provided [RCV002050285] Chr4:125490399 [GRCh38]
Chr4:126411554 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.5030T>C (p.Val1677Ala) single nucleotide variant not provided [RCV002010051] Chr4:125321441 [GRCh38]
Chr4:126242596 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.5444G>A (p.Arg1815His) single nucleotide variant not provided [RCV002031392] Chr4:125407016 [GRCh38]
Chr4:126328171 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.5362C>T (p.Arg1788Cys) single nucleotide variant not provided [RCV002031920] Chr4:125406934 [GRCh38]
Chr4:126328089 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.3525T>A (p.Phe1175Leu) single nucleotide variant not provided [RCV001956871] Chr4:125319936 [GRCh38]
Chr4:126241091 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.6592A>G (p.Thr2198Ala) single nucleotide variant not provided [RCV001867035] Chr4:125415555 [GRCh38]
Chr4:126336710 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.14179A>G (p.Ile4727Val) single nucleotide variant not provided [RCV001899041] Chr4:125490995 [GRCh38]
Chr4:126412150 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.3697T>A (p.Ser1233Thr) single nucleotide variant not provided [RCV001919007] Chr4:125320108 [GRCh38]
Chr4:126241263 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.2021G>T (p.Arg674Leu) single nucleotide variant not provided [RCV001978483] Chr4:125318432 [GRCh38]
Chr4:126239587 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.2449G>C (p.Ala817Pro) single nucleotide variant not provided [RCV001877435] Chr4:125318860 [GRCh38]
Chr4:126240015 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.253A>G (p.Ser85Gly) single nucleotide variant not provided [RCV002016178] Chr4:125316664 [GRCh38]
Chr4:126237819 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.11198T>C (p.Leu3733Pro) single nucleotide variant not provided [RCV002018774] Chr4:125452208 [GRCh38]
Chr4:126373363 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.6008T>G (p.Leu2003Arg) single nucleotide variant not provided [RCV001925629] Chr4:125414971 [GRCh38]
Chr4:126336126 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.14273C>T (p.Pro4758Leu) single nucleotide variant Van Maldergem syndrome 2 [RCV002492308]|not provided [RCV001999398] Chr4:125491089 [GRCh38]
Chr4:126412244 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.11706T>A (p.Asp3902Glu) single nucleotide variant not provided [RCV002017103] Chr4:125452716 [GRCh38]
Chr4:126373871 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.7798C>T (p.Pro2600Ser) single nucleotide variant not provided [RCV001980009] Chr4:125448808 [GRCh38]
Chr4:126369963 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.12498C>T (p.Gly4166=) single nucleotide variant not provided [RCV001951755] Chr4:125479759 [GRCh38]
Chr4:126400914 [GRCh37]
Chr4:4q28.1		 likely benign|uncertain significance
NM_001291303.3(FAT4):c.7454C>T (p.Ser2485Phe) single nucleotide variant not provided [RCV002028246] Chr4:125448464 [GRCh38]
Chr4:126369619 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.6905G>C (p.Gly2302Ala) single nucleotide variant Inborn genetic diseases [RCV002625381]|not provided [RCV002015315] Chr4:125416509 [GRCh38]
Chr4:126337664 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.7979C>G (p.Thr2660Arg) single nucleotide variant Inborn genetic diseases [RCV003247199]|not provided [RCV001957697] Chr4:125448989 [GRCh38]
Chr4:126370144 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.2702A>G (p.Asn901Ser) single nucleotide variant not provided [RCV001995721] Chr4:125319113 [GRCh38]
Chr4:126240268 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.8761A>G (p.Arg2921Gly) single nucleotide variant not provided [RCV001884467] Chr4:125449771 [GRCh38]
Chr4:126370926 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.3664T>C (p.Ser1222Pro) single nucleotide variant not provided [RCV001999361] Chr4:125320075 [GRCh38]
Chr4:126241230 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.7240C>A (p.Pro2414Thr) single nucleotide variant not provided [RCV001931249] Chr4:125446333 [GRCh38]
Chr4:126367488 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.9550G>A (p.Val3184Ile) single nucleotide variant Inborn genetic diseases [RCV004044781]|not provided [RCV002036169] Chr4:125450560 [GRCh38]
Chr4:126371715 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.3918A>T (p.Leu1306Phe) single nucleotide variant not provided [RCV001998859] Chr4:125320329 [GRCh38]
Chr4:126241484 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.12910G>A (p.Gly4304Ser) single nucleotide variant not provided [RCV002011898] Chr4:125487432 [GRCh38]
Chr4:126408587 [GRCh37]
Chr4:4q28.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001291303.3(FAT4):c.1934C>T (p.Ser645Phe) single nucleotide variant not provided [RCV001900670] Chr4:125318345 [GRCh38]
Chr4:126239500 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.815T>C (p.Val272Ala) single nucleotide variant not provided [RCV001980731] Chr4:125317226 [GRCh38]
Chr4:126238381 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.14563A>G (p.Met4855Val) single nucleotide variant not provided [RCV002010672] Chr4:125491379 [GRCh38]
Chr4:126412534 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.176C>T (p.Thr59Ile) single nucleotide variant Inborn genetic diseases [RCV002558413]|not provided [RCV001916792] Chr4:125316587 [GRCh38]
Chr4:126237742 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.5191C>G (p.Gln1731Glu) single nucleotide variant not provided [RCV001900766] Chr4:125398799 [GRCh38]
Chr4:126319954 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.5429A>T (p.Tyr1810Phe) single nucleotide variant Inborn genetic diseases [RCV002554229]|not provided [RCV001902962] Chr4:125407001 [GRCh38]
Chr4:126328156 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.2632A>G (p.Met878Val) single nucleotide variant not provided [RCV001997158] Chr4:125319043 [GRCh38]
Chr4:126240198 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.473C>G (p.Thr158Ser) single nucleotide variant not provided [RCV002019993] Chr4:125316884 [GRCh38]
Chr4:126238039 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.12406A>G (p.Ile4136Val) single nucleotide variant not provided [RCV002012006] Chr4:125477261 [GRCh38]
Chr4:126398416 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.12356C>G (p.Pro4119Arg) single nucleotide variant not provided [RCV002017241] Chr4:125477211 [GRCh38]
Chr4:126398366 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.7899G>T (p.Lys2633Asn) single nucleotide variant not provided [RCV002035124] Chr4:125448909 [GRCh38]
Chr4:126370064 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.9548C>T (p.Thr3183Ile) single nucleotide variant not provided [RCV002048503] Chr4:125450558 [GRCh38]
Chr4:126371713 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.3059C>T (p.Ala1020Val) single nucleotide variant not provided [RCV001992872] Chr4:125319470 [GRCh38]
Chr4:126240625 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.13202G>A (p.Arg4401His) single nucleotide variant not provided [RCV001995966] Chr4:125490018 [GRCh38]
Chr4:126411173 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.5307+6T>A single nucleotide variant not provided [RCV001939902] Chr4:125398921 [GRCh38]
Chr4:126320076 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.10819A>G (p.Ile3607Val) single nucleotide variant not provided [RCV002028694] Chr4:125451829 [GRCh38]
Chr4:126372984 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.217A>G (p.Arg73Gly) single nucleotide variant not provided [RCV001991599] Chr4:125316628 [GRCh38]
Chr4:126237783 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.8495G>T (p.Ser2832Ile) single nucleotide variant not provided [RCV001921850] Chr4:125449505 [GRCh38]
Chr4:126370660 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.11560C>G (p.Pro3854Ala) single nucleotide variant not provided [RCV001904826] Chr4:125452570 [GRCh38]
Chr4:126373725 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.11053G>A (p.Val3685Ile) single nucleotide variant not provided [RCV001938709] Chr4:125452063 [GRCh38]
Chr4:126373218 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.1663C>T (p.Arg555Trp) single nucleotide variant Inborn genetic diseases [RCV003170444]|not provided [RCV001980856] Chr4:125318074 [GRCh38]
Chr4:126239229 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.9742A>G (p.Asn3248Asp) single nucleotide variant not provided [RCV002019641] Chr4:125450752 [GRCh38]
Chr4:126371907 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.7088C>T (p.Thr2363Ile) single nucleotide variant not provided [RCV001940499] Chr4:125434314 [GRCh38]
Chr4:126355469 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.9695C>T (p.Ala3232Val) single nucleotide variant FAT4-related disorder [RCV004752128]|Inborn genetic diseases [RCV004046898]|not provided [RCV002027547] Chr4:125450705 [GRCh38]
Chr4:126371860 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.11959T>C (p.Tyr3987His) single nucleotide variant not provided [RCV002026212] Chr4:125468565 [GRCh38]
Chr4:126389720 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.535G>A (p.Gly179Ser) single nucleotide variant not provided [RCV002027569] Chr4:125316946 [GRCh38]
Chr4:126238101 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.13223G>A (p.Ser4408Asn) single nucleotide variant not provided [RCV001902365] Chr4:125490039 [GRCh38]
Chr4:126411194 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.4525C>T (p.Arg1509Trp) single nucleotide variant not provided [RCV001906065] Chr4:125320936 [GRCh38]
Chr4:126242091 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.6086C>T (p.Ser2029Phe) single nucleotide variant Inborn genetic diseases [RCV002608062]|not provided [RCV001989120] Chr4:125415049 [GRCh38]
Chr4:126336204 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.14704G>A (p.Gly4902Arg) single nucleotide variant not provided [RCV002012368] Chr4:125491520 [GRCh38]
Chr4:126412675 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.8444A>G (p.Asp2815Gly) single nucleotide variant Inborn genetic diseases [RCV002562037]|not provided [RCV001972085] Chr4:125449454 [GRCh38]
Chr4:126370609 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.5057A>G (p.His1686Arg) single nucleotide variant not provided [RCV001915927] Chr4:125321468 [GRCh38]
Chr4:126242623 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.7579G>A (p.Ala2527Thr) single nucleotide variant not provided [RCV001989217] Chr4:125448589 [GRCh38]
Chr4:126369744 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.3637G>T (p.Asp1213Tyr) single nucleotide variant Van Maldergem syndrome 2 [RCV004728860]|not provided [RCV001878306] Chr4:125320048 [GRCh38]
Chr4:126241203 [GRCh37]
Chr4:4q28.1		 likely benign|uncertain significance
NM_001291303.3(FAT4):c.1328A>G (p.Asn443Ser) single nucleotide variant not provided [RCV001934504] Chr4:125317739 [GRCh38]
Chr4:126238894 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.4081G>A (p.Gly1361Arg) single nucleotide variant Inborn genetic diseases [RCV002642010]|Van Maldergem syndrome 2 [RCV002492297]|not provided [RCV001991842] Chr4:125320492 [GRCh38]
Chr4:126241647 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.11191C>G (p.His3731Asp) single nucleotide variant not provided [RCV001938820] Chr4:125452201 [GRCh38]
Chr4:126373356 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.2021G>A (p.Arg674His) single nucleotide variant Inborn genetic diseases [RCV003166920]|not provided [RCV001924876] Chr4:125318432 [GRCh38]
Chr4:126239587 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.4636G>A (p.Val1546Ile) single nucleotide variant Inborn genetic diseases [RCV004616807]|not provided [RCV001932019] Chr4:125321047 [GRCh38]
Chr4:126242202 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.3196T>C (p.Tyr1066His) single nucleotide variant not provided [RCV001900040] Chr4:125319607 [GRCh38]
Chr4:126240762 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.8996A>C (p.Lys2999Thr) single nucleotide variant not provided [RCV001870076] Chr4:125450006 [GRCh38]
Chr4:126371161 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.5689G>A (p.Val1897Ile) single nucleotide variant not provided [RCV002030361] Chr4:125408563 [GRCh38]
Chr4:126329718 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.12509G>C (p.Arg4170Pro) single nucleotide variant not provided [RCV001980989] Chr4:125479770 [GRCh38]
Chr4:126400925 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.6584A>G (p.Asn2195Ser) single nucleotide variant not provided [RCV001906763] Chr4:125415547 [GRCh38]
Chr4:126336702 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.5705G>A (p.Arg1902Gln) single nucleotide variant not provided [RCV001900133] Chr4:125408579 [GRCh38]
Chr4:126329734 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.11755A>G (p.Asn3919Asp) single nucleotide variant not provided [RCV002030408] Chr4:125452765 [GRCh38]
Chr4:126373920 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.8630C>T (p.Thr2877Ile) single nucleotide variant not provided [RCV001989355] Chr4:125449640 [GRCh38]
Chr4:126370795 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.14816G>T (p.Gly4939Val) single nucleotide variant not provided [RCV001866920] Chr4:125491632 [GRCh38]
Chr4:126412787 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.7595G>A (p.Gly2532Glu) single nucleotide variant not provided [RCV002050373] Chr4:125448605 [GRCh38]
Chr4:126369760 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.5450A>C (p.Asp1817Ala) single nucleotide variant not provided [RCV001923737] Chr4:125407022 [GRCh38]
Chr4:126328177 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.11912T>G (p.Phe3971Cys) single nucleotide variant not provided [RCV001998657] Chr4:125468518 [GRCh38]
Chr4:126389673 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.1811T>G (p.Met604Arg) single nucleotide variant Inborn genetic diseases [RCV002552796]|not provided [RCV001886135] Chr4:125318222 [GRCh38]
Chr4:126239377 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.835G>A (p.Glu279Lys) single nucleotide variant not provided [RCV001999221] Chr4:125317246 [GRCh38]
Chr4:126238401 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.13802C>T (p.Pro4601Leu) single nucleotide variant Inborn genetic diseases [RCV002557756]|not provided [RCV001938321] Chr4:125490618 [GRCh38]
Chr4:126411773 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.3236C>T (p.Pro1079Leu) single nucleotide variant Inborn genetic diseases [RCV002569294]|not provided [RCV001961380] Chr4:125319647 [GRCh38]
Chr4:126240802 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.12271G>C (p.Val4091Leu) single nucleotide variant Inborn genetic diseases [RCV002555366]|not provided [RCV001899039] Chr4:125476228 [GRCh38]
Chr4:126397383 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.10788G>A (p.Met3596Ile) single nucleotide variant not provided [RCV002026987] Chr4:125451798 [GRCh38]
Chr4:126372953 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.6701G>A (p.Arg2234Gln) single nucleotide variant not provided [RCV002047775] Chr4:125415664 [GRCh38]
Chr4:126336819 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.9113A>G (p.Asn3038Ser) single nucleotide variant not provided [RCV001976304] Chr4:125450123 [GRCh38]
Chr4:126371278 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.14167T>A (p.Leu4723Met) single nucleotide variant not provided [RCV001959227] Chr4:125490983 [GRCh38]
Chr4:126412138 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.12340A>G (p.Ile4114Val) single nucleotide variant Inborn genetic diseases [RCV003289292]|not provided [RCV001979849] Chr4:125477195 [GRCh38]
Chr4:126398350 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.1890G>T (p.Arg630Ser) single nucleotide variant not provided [RCV001978360] Chr4:125318301 [GRCh38]
Chr4:126239456 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.3680C>T (p.Thr1227Ile) single nucleotide variant not provided [RCV002019609] Chr4:125320091 [GRCh38]
Chr4:126241246 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.9655A>C (p.Asn3219His) single nucleotide variant not provided [RCV002046780] Chr4:125450665 [GRCh38]
Chr4:126371820 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.7298A>T (p.Tyr2433Phe) single nucleotide variant not provided [RCV001980623] Chr4:125446391 [GRCh38]
Chr4:126367546 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.9095G>C (p.Gly3032Ala) single nucleotide variant not provided [RCV002033846] Chr4:125450105 [GRCh38]
Chr4:126371260 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.791T>A (p.Val264Asp) single nucleotide variant not provided [RCV001959454] Chr4:125317202 [GRCh38]
Chr4:126238357 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.6583A>G (p.Asn2195Asp) single nucleotide variant not provided [RCV002017787] Chr4:125415546 [GRCh38]
Chr4:126336701 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.6484G>A (p.Glu2162Lys) single nucleotide variant not provided [RCV001884940] Chr4:125415447 [GRCh38]
Chr4:126336602 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.169C>G (p.Pro57Ala) single nucleotide variant not provided [RCV001886206] Chr4:125316580 [GRCh38]
Chr4:126237735 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.8975C>T (p.Thr2992Ile) single nucleotide variant not provided [RCV002017958] Chr4:125449985 [GRCh38]
Chr4:126371140 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.7147G>A (p.Val2383Ile) single nucleotide variant Inborn genetic diseases [RCV004616914]|not provided [RCV001997417] Chr4:125434373 [GRCh38]
Chr4:126355528 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.1705G>A (p.Val569Ile) single nucleotide variant not provided [RCV001884331] Chr4:125318116 [GRCh38]
Chr4:126239271 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.9315C>G (p.Ser3105Arg) single nucleotide variant not provided [RCV001924307] Chr4:125450325 [GRCh38]
Chr4:126371480 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.7103C>T (p.Ala2368Val) single nucleotide variant not provided [RCV001981270] Chr4:125434329 [GRCh38]
Chr4:126355484 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.3939T>G (p.Pro1313=) single nucleotide variant not provided [RCV002019949] Chr4:125320350 [GRCh38]
Chr4:126241505 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.14680A>G (p.Arg4894Gly) single nucleotide variant not provided [RCV001939262] Chr4:125491496 [GRCh38]
Chr4:126412651 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.3350C>T (p.Ser1117Leu) single nucleotide variant not provided [RCV001921179] Chr4:125319761 [GRCh38]
Chr4:126240916 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.775G>T (p.Val259Leu) single nucleotide variant not provided [RCV002035531] Chr4:125317186 [GRCh38]
Chr4:126238341 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.1553A>G (p.Asn518Ser) single nucleotide variant not provided [RCV001999303] Chr4:125317964 [GRCh38]
Chr4:126239119 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.755G>A (p.Ser252Asn) single nucleotide variant not provided [RCV001938975] Chr4:125317166 [GRCh38]
Chr4:126238321 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.13700A>G (p.Tyr4567Cys) single nucleotide variant not provided [RCV001875224] Chr4:125490516 [GRCh38]
Chr4:126411671 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.5468C>T (p.Ser1823Leu) single nucleotide variant not provided [RCV001954606] Chr4:125407040 [GRCh38]
Chr4:126328195 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.4000G>A (p.Val1334Met) single nucleotide variant not provided [RCV002016324] Chr4:125320411 [GRCh38]
Chr4:126241566 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.3488G>A (p.Arg1163Lys) single nucleotide variant Van Maldergem syndrome 2 [RCV004762238]|not provided [RCV001903901] Chr4:125319899 [GRCh38]
Chr4:126241054 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.6883C>T (p.Leu2295Phe) single nucleotide variant not provided [RCV001864736] Chr4:125416487 [GRCh38]
Chr4:126337642 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.7815C>A (p.Ile2605=) single nucleotide variant not provided [RCV001988924] Chr4:125448825 [GRCh38]
Chr4:126369980 [GRCh37]
Chr4:4q28.1		 likely benign|uncertain significance
NM_001291303.3(FAT4):c.4903A>G (p.Ile1635Val) single nucleotide variant not provided [RCV001972025] Chr4:125321314 [GRCh38]
Chr4:126242469 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.188C>T (p.Thr63Ile) single nucleotide variant FAT4-related disorder [RCV003401891]|not provided [RCV001916807] Chr4:125316599 [GRCh38]
Chr4:126237754 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.132G>C (p.Glu44Asp) single nucleotide variant Inborn genetic diseases [RCV003382680]|not provided [RCV001881237] Chr4:125316543 [GRCh38]
Chr4:126237698 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.10861A>C (p.Ile3621Leu) single nucleotide variant not provided [RCV002015232] Chr4:125451871 [GRCh38]
Chr4:126373026 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.13549G>A (p.Val4517Ile) single nucleotide variant not provided [RCV002015078] Chr4:125490365 [GRCh38]
Chr4:126411520 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.6577A>C (p.Ile2193Leu) single nucleotide variant not provided [RCV001922555] Chr4:125415540 [GRCh38]
Chr4:126336695 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.4606G>T (p.Ala1536Ser) single nucleotide variant not provided [RCV001989059] Chr4:125321017 [GRCh38]
Chr4:126242172 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.12680G>A (p.Arg4227Gln) single nucleotide variant Inborn genetic diseases [RCV004046685]|not provided [RCV002014192] Chr4:125481596 [GRCh38]
Chr4:126402751 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.13978G>A (p.Gly4660Ser) single nucleotide variant not provided [RCV001865078] Chr4:125490794 [GRCh38]
Chr4:126411949 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.651G>C (p.Gln217His) single nucleotide variant not provided [RCV002027426] Chr4:125317062 [GRCh38]
Chr4:126238217 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.8967A>G (p.Lys2989=) single nucleotide variant not provided [RCV002012577] Chr4:125449977 [GRCh38]
Chr4:126371132 [GRCh37]
Chr4:4q28.1		 likely benign|uncertain significance
NM_001291303.3(FAT4):c.4318A>G (p.Ile1440Val) single nucleotide variant Inborn genetic diseases [RCV004043340]|not provided [RCV001922897] Chr4:125320729 [GRCh38]
Chr4:126241884 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.5993G>A (p.Gly1998Asp) single nucleotide variant not provided [RCV001930437] Chr4:125414956 [GRCh38]
Chr4:126336111 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.321C>A (p.Asn107Lys) single nucleotide variant not provided [RCV002012523] Chr4:125316732 [GRCh38]
Chr4:126237887 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.5584G>A (p.Ala1862Thr) single nucleotide variant not provided [RCV002033325] Chr4:125408458 [GRCh38]
Chr4:126329613 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.14433C>G (p.Asp4811Glu) single nucleotide variant not provided [RCV002046415] Chr4:125491249 [GRCh38]
Chr4:126412404 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.5441T>C (p.Val1814Ala) single nucleotide variant Inborn genetic diseases [RCV004041725]|not provided [RCV001917988] Chr4:125407013 [GRCh38]
Chr4:126328168 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.247A>G (p.Ile83Val) single nucleotide variant FAT4-related disorder [RCV003418316]|Inborn genetic diseases [RCV004616953]|not provided [RCV002015605] Chr4:125316658 [GRCh38]
Chr4:126237813 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.5714A>T (p.Asp1905Val) single nucleotide variant not provided [RCV002032133] Chr4:125408588 [GRCh38]
Chr4:126329743 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.1882G>A (p.Asp628Asn) single nucleotide variant not provided [RCV001866505] Chr4:125318293 [GRCh38]
Chr4:126239448 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.9425A>G (p.Asn3142Ser) single nucleotide variant not provided [RCV002033403] Chr4:125450435 [GRCh38]
Chr4:126371590 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.12274A>G (p.Ser4092Gly) single nucleotide variant Inborn genetic diseases [RCV004616835]|not provided [RCV001875720] Chr4:125476231 [GRCh38]
Chr4:126397386 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.7120C>T (p.Pro2374Ser) single nucleotide variant not provided [RCV002048336] Chr4:125434346 [GRCh38]
Chr4:126355501 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.13594A>G (p.Arg4532Gly) single nucleotide variant Inborn genetic diseases [RCV003167172]|not provided [RCV001920765] Chr4:125490410 [GRCh38]
Chr4:126411565 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.14186A>T (p.Asp4729Val) single nucleotide variant not provided [RCV001921929] Chr4:125491002 [GRCh38]
Chr4:126412157 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.5053C>G (p.Arg1685Gly) single nucleotide variant not provided [RCV001996418] Chr4:125321464 [GRCh38]
Chr4:126242619 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.11005G>C (p.Asp3669His) single nucleotide variant not provided [RCV001954134] Chr4:125452015 [GRCh38]
Chr4:126373170 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.1063T>A (p.Phe355Ile) single nucleotide variant not provided [RCV001991425] Chr4:125317474 [GRCh38]
Chr4:126238629 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.2361A>C (p.Gln787His) single nucleotide variant not provided [RCV001977035] Chr4:125318772 [GRCh38]
Chr4:126239927 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.5000T>C (p.Ile1667Thr) single nucleotide variant not provided [RCV001978263] Chr4:125321411 [GRCh38]
Chr4:126242566 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.3055C>G (p.Gln1019Glu) single nucleotide variant not provided [RCV002015650] Chr4:125319466 [GRCh38]
Chr4:126240621 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.681G>T (p.Glu227Asp) single nucleotide variant not provided [RCV002048502] Chr4:125317092 [GRCh38]
Chr4:126238247 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.6843+1G>T single nucleotide variant not provided [RCV002048404] Chr4:125415807 [GRCh38]
Chr4:126336962 [GRCh37]
Chr4:4q28.1		 likely pathogenic
NM_001291303.3(FAT4):c.4374A>G (p.Thr1458=) single nucleotide variant not provided [RCV001956118] Chr4:125320785 [GRCh38]
Chr4:126241940 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.2204G>A (p.Arg735Gln) single nucleotide variant not provided [RCV002026889] Chr4:125318615 [GRCh38]
Chr4:126239770 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.7416A>T (p.Pro2472=) single nucleotide variant not provided [RCV002088289] Chr4:125446509 [GRCh38]
Chr4:126367664 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.4992G>A (p.Glu1664=) single nucleotide variant not provided [RCV002089880] Chr4:125321403 [GRCh38]
Chr4:126242558 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.10512T>C (p.Asp3504=) single nucleotide variant not provided [RCV002087459] Chr4:125451522 [GRCh38]
Chr4:126372677 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.10218T>C (p.Phe3406=) single nucleotide variant not provided [RCV002145319] Chr4:125451228 [GRCh38]
Chr4:126372383 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.11886T>C (p.Tyr3962=) single nucleotide variant not provided [RCV002075535] Chr4:125463648 [GRCh38]
Chr4:126384803 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.13308G>A (p.Pro4436=) single nucleotide variant not provided [RCV002189352] Chr4:125490124 [GRCh38]
Chr4:126411279 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.10644T>C (p.Tyr3548=) single nucleotide variant not provided [RCV002105863] Chr4:125451654 [GRCh38]
Chr4:126372809 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.9087C>T (p.Asn3029=) single nucleotide variant not provided [RCV002071776] Chr4:125450097 [GRCh38]
Chr4:126371252 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.14463C>T (p.Cys4821=) single nucleotide variant not provided [RCV002192466] Chr4:125491279 [GRCh38]
Chr4:126412434 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.8580C>T (p.Val2860=) single nucleotide variant FAT4-related disorder [RCV003970904]|not provided [RCV002105840] Chr4:125449590 [GRCh38]
Chr4:126370745 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.4749C>T (p.Asp1583=) single nucleotide variant not provided [RCV002166675] Chr4:125321160 [GRCh38]
Chr4:126242315 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.4032A>G (p.Ser1344=) single nucleotide variant not provided [RCV002168302] Chr4:125320443 [GRCh38]
Chr4:126241598 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.4998T>C (p.Tyr1666=) single nucleotide variant not provided [RCV002130359] Chr4:125321409 [GRCh38]
Chr4:126242564 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.14088T>C (p.Thr4696=) single nucleotide variant not provided [RCV002147706] Chr4:125490904 [GRCh38]
Chr4:126412059 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.12604+9G>A single nucleotide variant not provided [RCV002186527] Chr4:125479874 [GRCh38]
Chr4:126401029 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.5904T>C (p.Val1968=) single nucleotide variant not provided [RCV002086203] Chr4:125408778 [GRCh38]
Chr4:126329933 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.1802A>G (p.Glu601Gly) single nucleotide variant FAT4-related disorder [RCV003395391]|Inborn genetic diseases [RCV004046267]|not provided [RCV002109425] Chr4:125318213 [GRCh38]
Chr4:126239368 [GRCh37]
Chr4:4q28.1		 likely benign|uncertain significance
NM_001291303.3(FAT4):c.1332C>T (p.Tyr444=) single nucleotide variant not provided [RCV002189286] Chr4:125317743 [GRCh38]
Chr4:126238898 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.13927C>G (p.Gln4643Glu) single nucleotide variant not provided [RCV002192709] Chr4:125490743 [GRCh38]
Chr4:126411898 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.2979A>C (p.Ser993=) single nucleotide variant not provided [RCV002209864] Chr4:125319390 [GRCh38]
Chr4:126240545 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.144G>A (p.Val48=) single nucleotide variant not provided [RCV002106394] Chr4:125316555 [GRCh38]
Chr4:126237710 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.12644G>C (p.Gly4215Ala) single nucleotide variant not provided [RCV002224571] Chr4:125481560 [GRCh38]
Chr4:126402715 [GRCh37]
Chr4:4q28.1		 uncertain significance
NM_001291303.3(FAT4):c.10635C>G (p.Pro3545=) single nucleotide variant not provided [RCV002206608] Chr4:125451645 [GRCh38]
Chr4:126372800 [GRCh37]
Chr4:4q28.1		 benign
NM_001291303.3(FAT4):c.12299+9T>C single nucleotide variant not provided [RCV002191852] Chr4:125476265 [GRCh38]
Chr4:126397420 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.13941C>T (p.His4647=) single nucleotide variant not provided [RCV002210083] Chr4:125490757 [GRCh38]
Chr4:126411912 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.4797C>A (p.Leu1599=) single nucleotide variant FAT4-related disorder [RCV003951170]|not provided [RCV002091904] Chr4:125321208 [GRCh38]
Chr4:126242363 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.13401G>A (p.Val4467=) single nucleotide variant not provided [RCV002076216] Chr4:125490217 [GRCh38]
Chr4:126411372 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.12214-4G>A single nucleotide variant not provided [RCV002126231] Chr4:125476167 [GRCh38]
Chr4:126397322 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.11286G>A (p.Thr3762=) single nucleotide variant not provided [RCV002164915] Chr4:125452296 [GRCh38]
Chr4:126373451 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.13194T>C (p.Ile4398=) single nucleotide variant not provided [RCV002092784] Chr4:125490010 [GRCh38]
Chr4:126411165 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.11906-17A>C single nucleotide variant not provided [RCV002168018] Chr4:125468495 [GRCh38]
Chr4:126389650 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.7692C>G (p.Ala2564=) single nucleotide variant not provided [RCV002092370] Chr4:125448702 [GRCh38]
Chr4:126369857 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.1485T>C (p.Ser495=) single nucleotide variant not provided [RCV002210637] Chr4:125317896 [GRCh38]
Chr4:126239051 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.9486C>T (p.His3162=) single nucleotide variant not provided [RCV002190757] Chr4:125450496 [GRCh38]
Chr4:126371651 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.12300-14C>T single nucleotide variant not provided [RCV002128404] Chr4:125477141 [GRCh38]
Chr4:126398296 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.4821G>T (p.Gly1607=) single nucleotide variant not provided [RCV002210761] Chr4:125321232 [GRCh38]
Chr4:126242387 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.13209G>A (p.Pro4403=) single nucleotide variant FAT4-related disorder [RCV003958528]|not provided [RCV002192414] Chr4:125490025 [GRCh38]
Chr4:126411180 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.13827C>T (p.Ser4609=) single nucleotide variant not provided [RCV002073954] Chr4:125490643 [GRCh38]
Chr4:126411798 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.3958C>A (p.Leu1320Ile) single nucleotide variant FAT4-related disorder [RCV004752153]|not provided [RCV002110955] Chr4:125320369 [GRCh38]
Chr4:126241524 [GRCh37]
Chr4:4q28.1		 likely benign|uncertain significance
NM_001291303.3(FAT4):c.7566A>G (p.Gly2522=) single nucleotide variant not provided [RCV002205238] Chr4:125448576 [GRCh38]
Chr4:126369731 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.13084+13A>G single nucleotide variant not provided [RCV002088019] Chr4:125487619 [GRCh38]
Chr4:126408774 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.11373C>A (p.Ile3791=) single nucleotide variant not provided [RCV002168308] Chr4:125452383 [GRCh38]
Chr4:126373538 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.5308-5T>C single nucleotide variant FAT4-related disorder [RCV003895831]|not provided [RCV002147137] Chr4:125406875 [GRCh38]
Chr4:126328030 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.4854C>T (p.Thr1618=) single nucleotide variant not provided [RCV002186939] Chr4:125321265 [GRCh38]
Chr4:126242420 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.13275G>A (p.Arg4425=) single nucleotide variant not provided [RCV002188126] Chr4:125490091 [GRCh38]
Chr4:126411246 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.9006G>A (p.Thr3002=) single nucleotide variant FAT4-related disorder [RCV003951065]|not provided [RCV002105491] Chr4:125450016 [GRCh38]
Chr4:126371171 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.7743C>T (p.Asn2581=) single nucleotide variant not provided [RCV002188388] Chr4:125448753 [GRCh38]
Chr4:126369908 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.10002G>A (p.Glu3334=) single nucleotide variant not provided [RCV002206545] Chr4:125451012 [GRCh38]
Chr4:126372167 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.10290C>T (p.Ala3430=) single nucleotide variant not provided [RCV002105972] Chr4:125451300 [GRCh38]
Chr4:126372455 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.90A>G (p.Leu30=) single nucleotide variant not provided [RCV002125806] Chr4:125316501 [GRCh38]
Chr4:126237656 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.14139G>A (p.Thr4713=) single nucleotide variant not provided [RCV002191601] Chr4:125490955 [GRCh38]
Chr4:126412110 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.11901A>G (p.Pro3967=) single nucleotide variant not provided [RCV002167008] Chr4:125463663 [GRCh38]
Chr4:126384818 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.14670G>A (p.Leu4890=) single nucleotide variant not provided [RCV002188601] Chr4:125491486 [GRCh38]
Chr4:126412641 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.9726C>A (p.Leu3242=) single nucleotide variant not provided [RCV002209106] Chr4:125450736 [GRCh38]
Chr4:126371891 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.6050T>C (p.Val2017Ala) single nucleotide variant Inborn genetic diseases [RCV004045635]|not provided [RCV002210305] Chr4:125415013 [GRCh38]
Chr4:126336168 [GRCh37]
Chr4:4q28.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001291303.3(FAT4):c.10053T>C (p.Asn3351=) single nucleotide variant not provided [RCV002088647] Chr4:125451063 [GRCh38]
Chr4:126372218 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.6732G>A (p.Thr2244=) single nucleotide variant not provided [RCV002107039] Chr4:125415695 [GRCh38]
Chr4:126336850 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.12150C>T (p.Leu4050=) single nucleotide variant not provided [RCV002148154] Chr4:125468756 [GRCh38]
Chr4:126389911 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.12108A>G (p.Arg4036=) single nucleotide variant not provided [RCV002185506] Chr4:125468714 [GRCh38]
Chr4:126389869 [GRCh37]
Chr4:4q28.1		 benign
NM_001291303.3(FAT4):c.4314T>C (p.Ser1438=) single nucleotide variant not provided [RCV002124351] Chr4:125320725 [GRCh38]
Chr4:126241880 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.6639C>T (p.Val2213=) single nucleotide variant not provided [RCV002192205] Chr4:125415602 [GRCh38]
Chr4:126336757 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.12147G>A (p.Lys4049=) single nucleotide variant not provided [RCV002148419] Chr4:125468753 [GRCh38]
Chr4:126389908 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.5034A>G (p.Gly1678=) single nucleotide variant not provided [RCV002110072] Chr4:125321445 [GRCh38]
Chr4:126242600 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.12402G>A (p.Gly4134=) single nucleotide variant not provided [RCV002146704] Chr4:125477257 [GRCh38]
Chr4:126398412 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.11088G>A (p.Thr3696=) single nucleotide variant not provided [RCV002097290] Chr4:125452098 [GRCh38]
Chr4:126373253 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.12604+15C>A single nucleotide variant not provided [RCV002197225] Chr4:125479880 [GRCh38]
Chr4:126401035 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.12300-6A>C single nucleotide variant not provided [RCV002173523] Chr4:125477149 [GRCh38]
Chr4:126398304 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.5924T>C (p.Ile1975Thr) single nucleotide variant FAT4-related disorder [RCV003951166]|not provided [RCV002079439] Chr4:125414887 [GRCh38]
Chr4:126336042 [GRCh37]
Chr4:4q28.1		 benign|likely benign
NM_001291303.3(FAT4):c.12678G>A (p.Lys4226=) single nucleotide variant not provided [RCV002206076] Chr4:125481594 [GRCh38]
Chr4:126402749 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.2897T>C (p.Ile966Thr) single nucleotide variant not provided [RCV002117441] Chr4:125319308 [GRCh38]
Chr4:126240463 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.10086T>C (p.Ile3362=) single nucleotide variant not provided [RCV002171756] Chr4:125451096 [GRCh38]
Chr4:126372251 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.6618T>C (p.Ser2206=) single nucleotide variant FAT4-related disorder [RCV003970997]|not provided [RCV002079523] Chr4:125415581 [GRCh38]
Chr4:126336736 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.3879C>T (p.Ile1293=) single nucleotide variant not provided [RCV002087753] Chr4:125320290 [GRCh38]
Chr4:126241445 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.6917A>G (p.Asn2306Ser) single nucleotide variant Inborn genetic diseases [RCV003250462]|not provided [RCV002173778] Chr4:125416521 [GRCh38]
Chr4:126337676 [GRCh37]
Chr4:4q28.1		 likely benign|uncertain significance
NM_001291303.3(FAT4):c.8388C>A (p.Val2796=) single nucleotide variant not provided [RCV002214889] Chr4:125449398 [GRCh38]
Chr4:126370553 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.11800+16T>A single nucleotide variant not provided [RCV002173803] Chr4:125452826 [GRCh38]
Chr4:126373981 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.10869T>A (p.Val3623=) single nucleotide variant not provided [RCV002174361] Chr4:125451879 [GRCh38]
Chr4:126373034 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.5921-11T>G single nucleotide variant not provided [RCV002174985] Chr4:125414873 [GRCh38]
Chr4:126336028 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.13143C>T (p.Ser4381=) single nucleotide variant not provided [RCV002189893] Chr4:125489959 [GRCh38]
Chr4:126411114 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.6843+8T>G single nucleotide variant not provided [RCV002195299] Chr4:125415814 [GRCh38]
Chr4:126336969 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.12792C>T (p.Ile4264=) single nucleotide variant not provided [RCV002196806] Chr4:125481708 [GRCh38]
Chr4:126402863 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.8812C>A (p.Gln2938Lys) single nucleotide variant Inborn genetic diseases [RCV003061768]|not provided [RCV002135161] Chr4:125449822 [GRCh38]
Chr4:126370977 [GRCh37]
Chr4:4q28.1		 likely benign|uncertain significance
NM_001291303.3(FAT4):c.10935G>A (p.Val3645=) single nucleotide variant not provided [RCV002096914] Chr4:125451945 [GRCh38]
Chr4:126373100 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.12166G>T (p.Val4056Leu) single nucleotide variant Inborn genetic diseases [RCV003355800]|not provided [RCV002216218] Chr4:125468772 [GRCh38]
Chr4:126389927 [GRCh37]
Chr4:4q28.1		 likely benign|uncertain significance
NM_001291303.3(FAT4):c.13851G>A (p.Gln4617=) single nucleotide variant not provided [RCV002091626] Chr4:125490667 [GRCh38]
Chr4:126411822 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.1470G>A (p.Pro490=) single nucleotide variant not provided [RCV002132906] Chr4:125317881 [GRCh38]
Chr4:126239036 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.5054G>A (p.Arg1685Gln) single nucleotide variant Inborn genetic diseases [RCV004045591]|not provided [RCV002211928] Chr4:125321465 [GRCh38]
Chr4:126242620 [GRCh37]
Chr4:4q28.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001291303.3(FAT4):c.14738G>A (p.Gly4913Asp) single nucleotide variant FAT4-related disorder [RCV003968697]|not provided [RCV002079806] Chr4:125491554 [GRCh38]
Chr4:126412709 [GRCh37]
Chr4:4q28.1		 benign|likely benign
NM_001291303.3(FAT4):c.13530C>T (p.Ile4510=) single nucleotide variant not provided [RCV002215907] Chr4:125490346 [GRCh38]
Chr4:126411501 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.13683T>C (p.Pro4561=) single nucleotide variant not provided [RCV002167712] Chr4:125490499 [GRCh38]
Chr4:126411654 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.9981T>C (p.Arg3327=) single nucleotide variant FAT4-related disorder [RCV003971114]|not provided [RCV002151572] Chr4:125450991 [GRCh38]
Chr4:126372146 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.2815C>T (p.Leu939=) single nucleotide variant not provided [RCV002115081] Chr4:125319226 [GRCh38]
Chr4:126240381 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.12861A>C (p.Gly4287=) single nucleotide variant not provided [RCV002133435] Chr4:125487383 [GRCh38]
Chr4:126408538 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.6729C>T (p.Ser2243=) single nucleotide variant FAT4-related disorder [RCV003893233]|not provided [RCV002081016] Chr4:125415692 [GRCh38]
Chr4:126336847 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.10974C>G (p.Thr3658=) single nucleotide variant not provided [RCV002171338] Chr4:125451984 [GRCh38]
Chr4:126373139 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.9360A>G (p.Ala3120=) single nucleotide variant not provided [RCV002071502] Chr4:125450370 [GRCh38]
Chr4:126371525 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.6672C>G (p.Thr2224=) single nucleotide variant not provided [RCV002094303] Chr4:125415635 [GRCh38]
Chr4:126336790 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.13828G>A (p.Ala4610Thr) single nucleotide variant not provided [RCV002152670] Chr4:125490644 [GRCh38]
Chr4:126411799 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.10839T>C (p.Pro3613=) single nucleotide variant not provided [RCV002215717] Chr4:125451849 [GRCh38]
Chr4:126373004 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.3714T>C (p.Asp1238=) single nucleotide variant not provided [RCV002172830] Chr4:125320125 [GRCh38]
Chr4:126241280 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.5481T>A (p.Ile1827=) single nucleotide variant not provided [RCV002128237] Chr4:125407053 [GRCh38]
Chr4:126328208 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.13461G>A (p.Ala4487=) single nucleotide variant not provided [RCV002169779] Chr4:125490277 [GRCh38]
Chr4:126411432 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.1830G>A (p.Gly610=) single nucleotide variant not provided [RCV002210486] Chr4:125318241 [GRCh38]
Chr4:126239396 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.4563C>T (p.Asp1521=) single nucleotide variant not provided [RCV002169856] Chr4:125320974 [GRCh38]
Chr4:126242129 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.12822+17T>C single nucleotide variant not provided [RCV002092168] Chr4:125481755 [GRCh38]
Chr4:126402910 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.9648C>T (p.Ile3216=) single nucleotide variant not provided [RCV002170907] Chr4:125450658 [GRCh38]
Chr4:126371813 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.14806T>C (p.Leu4936=) single nucleotide variant not provided [RCV002113174] Chr4:125491622 [GRCh38]
Chr4:126412777 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.11967A>G (p.Glu3989=) single nucleotide variant not provided [RCV002187636] Chr4:125468573 [GRCh38]
Chr4:126389728 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.5532C>T (p.Pro1844=) single nucleotide variant FAT4-related disorder [RCV003923717]|not provided [RCV002094569] Chr4:125407104 [GRCh38]
Chr4:126328259 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.2787C>T (p.Leu929=) single nucleotide variant not provided [RCV002153820] Chr4:125319198 [GRCh38]
Chr4:126240353 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.10206C>T (p.Asp3402=) single nucleotide variant not provided [RCV002194310] Chr4:125451216 [GRCh38]
Chr4:126372371 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.13365C>T (p.Cys4455=) single nucleotide variant not provided [RCV002194325] Chr4:125490181 [GRCh38]
Chr4:126411336 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.7019-4_7019-3dup duplication not provided [RCV002174882] Chr4:125434237..125434238 [GRCh38]
Chr4:126355392..126355393 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.13197C>G (p.Gly4399=) single nucleotide variant not provided [RCV002081090] Chr4:125490013 [GRCh38]
Chr4:126411168 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.780T>C (p.Pro260=) single nucleotide variant not provided [RCV002151909] Chr4:125317191 [GRCh38]
Chr4:126238346 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.13367C>T (p.Pro4456Leu) single nucleotide variant not provided [RCV002150623] Chr4:125490183 [GRCh38]
Chr4:126411338 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.13416C>T (p.Gly4472=) single nucleotide variant not provided [RCV002112299] Chr4:125490232 [GRCh38]
Chr4:126411387 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.1137G>A (p.Leu379=) single nucleotide variant not provided [RCV002171309] Chr4:125317548 [GRCh38]
Chr4:126238703 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.6408A>G (p.Ser2136=) single nucleotide variant not provided [RCV002214329] Chr4:125415371 [GRCh38]
Chr4:126336526 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.13011C>T (p.Phe4337=) single nucleotide variant not provided [RCV002214330] Chr4:125487533 [GRCh38]
Chr4:126408688 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.8916C>T (p.Thr2972=) single nucleotide variant not provided [RCV002089040] Chr4:125449926 [GRCh38]
Chr4:126371081 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.11163A>G (p.Val3721=) single nucleotide variant not provided [RCV002196048] Chr4:125452173 [GRCh38]
Chr4:126373328 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.14109C>T (p.His4703=) single nucleotide variant not provided [RCV002132627] Chr4:125490925 [GRCh38]
Chr4:126412080 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.11905+10A>T single nucleotide variant not provided [RCV002115478] Chr4:125463677 [GRCh38]
Chr4:126384832 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.9255C>T (p.Asn3085=) single nucleotide variant not provided [RCV002096488] Chr4:125450265 [GRCh38]
Chr4:126371420 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.13374G>A (p.Ser4458=) single nucleotide variant not provided [RCV002116992] Chr4:125490190 [GRCh38]
Chr4:126411345 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.13878C>T (p.Asn4626=) single nucleotide variant FAT4-related disorder [RCV003958880]|not provided [RCV002131509] Chr4:125490694 [GRCh38]
Chr4:126411849 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.2646A>T (p.Thr882=) single nucleotide variant FAT4-related disorder [RCV003971042]|not provided [RCV002116293] Chr4:125319057 [GRCh38]
Chr4:126240212 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.11943A>C (p.Gly3981=) single nucleotide variant not provided [RCV002196518] Chr4:125468549 [GRCh38]
Chr4:126389704 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.8520A>G (p.Thr2840=) single nucleotide variant not provided [RCV002133278] Chr4:125449530 [GRCh38]
Chr4:126370685 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.5256C>T (p.Asn1752=) single nucleotide variant not provided [RCV002079023] Chr4:125398864 [GRCh38]
Chr4:126320019 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.3315C>T (p.Tyr1105=) single nucleotide variant not provided [RCV002134324] Chr4:125319726 [GRCh38]
Chr4:126240881 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.5814T>C (p.Asn1938=) single nucleotide variant not provided [RCV002133810] Chr4:125408688 [GRCh38]
Chr4:126329843 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.3960C>T (p.Leu1320=) single nucleotide variant not provided [RCV002152097] Chr4:125320371 [GRCh38]
Chr4:126241526 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.2985G>A (p.Val995=) single nucleotide variant not provided [RCV002076433] Chr4:125319396 [GRCh38]
Chr4:126240551 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.2412G>A (p.Glu804=) single nucleotide variant not provided [RCV002077106] Chr4:125318823 [GRCh38]
Chr4:126239978 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.12604+16C>T single nucleotide variant not provided [RCV002196157] Chr4:125479881 [GRCh38]
Chr4:126401036 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.1095C>A (p.Ala365=) single nucleotide variant not provided [RCV002077893] Chr4:125317506 [GRCh38]
Chr4:126238661 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.2004C>A (p.Pro668=) single nucleotide variant not provided [RCV002166218] Chr4:125318415 [GRCh38]
Chr4:126239570 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.4365A>G (p.Leu1455=) single nucleotide variant FAT4-related disorder [RCV003933526]|not provided [RCV002091688] Chr4:125320776 [GRCh38]
Chr4:126241931 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.12823-12T>C single nucleotide variant not provided [RCV002107153] Chr4:125487333 [GRCh38]
Chr4:126408488 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.5308-10C>T single nucleotide variant not provided [RCV002173783] Chr4:125406870 [GRCh38]
Chr4:126328025 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.3003T>C (p.Tyr1001=) single nucleotide variant not provided [RCV002196239] Chr4:125319414 [GRCh38]
Chr4:126240569 [GRCh37]
Chr4:4q28.1		 likely benign
NM_001291303.3(FAT4):c.10461A>T (p.Ser3487=) single nucleotide variant not provided [RCV002149704] Chr4:125451471 [GRCh38]
Chr4:126372626 [GRCh37]
Chr4:4q28.1		 benign
NM_001291303.3(FAT4):c.4839G>A (p.Ser1613=) single nucleotide variant not provided [RCV002124655] Chr4:125321250 [GRCh38]
Chr4:126242405 [GRCh37]
Chr4:4q28.1		 benign
NM_001291303.3(FAT4):c.8216C>A (p.Ser2739Tyr)