FAT2 (FAT atypical cadherin 2) - Rat Genome Database

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Gene: FAT2 (FAT atypical cadherin 2) Homo sapiens
Analyze
Symbol: FAT2
Name: FAT atypical cadherin 2
RGD ID: 732170
HGNC Page HGNC:3596
Description: Predicted to enable calcium ion binding activity. Involved in cell-substrate adhesion and epithelial cell migration. Located in adherens junction. Implicated in spinocerebellar ataxia 45.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: cadherin family member 8; cadherin-related family member 9; CDHF8; CDHR9; FAT tumor suppressor homolog 2; HFAT2; MEGF1; multiple EGF like domains 1; multiple EGF-like domains protein 1; multiple epidermal growth factor-like domains 1; multiple epidermal growth factor-like domains protein 1; protocadherin Fat 2; protocadherin FAT2; SCA45
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
GRCh385151,504,092 - 151,594,819 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl5151,504,092 - 151,591,331 (-)EnsemblGRCh38hg38GRCh38
GRCh375150,883,653 - 150,970,892 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 365150,863,847 - 150,928,698 (-)NCBINCBI36Build 36hg18NCBI36
Build 345150,863,846 - 150,928,698NCBI
Celera5146,965,062 - 147,029,916 (-)NCBICelera
Cytogenetic Map5q33.1NCBI
HuRef5146,029,050 - 146,093,922 (-)NCBIHuRef
CHM1_15150,316,083 - 150,380,950 (-)NCBICHM1_1
T2T-CHM13v2.05152,043,070 - 152,133,808 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Identification of high-molecular-weight proteins with multiple EGF-like motifs by motif-trap screening. Nakayama M, etal., Genomics 1998 Jul 1;51(1):27-34.
3. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:10380929   PMID:10716726   PMID:10835267   PMID:12477932   PMID:15491607   PMID:16335952   PMID:17900869   PMID:19199708   PMID:20301317   PMID:21873635   PMID:27081041   PMID:29053796  
PMID:33108146   PMID:34299191   PMID:34308747   PMID:35256949   PMID:36243803   PMID:37689310   PMID:38334954  


Genomics

Comparative Map Data
FAT2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh385151,504,092 - 151,594,819 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl5151,504,092 - 151,591,331 (-)EnsemblGRCh38hg38GRCh38
GRCh375150,883,653 - 150,970,892 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 365150,863,847 - 150,928,698 (-)NCBINCBI36Build 36hg18NCBI36
Build 345150,863,846 - 150,928,698NCBI
Celera5146,965,062 - 147,029,916 (-)NCBICelera
Cytogenetic Map5q33.1NCBI
HuRef5146,029,050 - 146,093,922 (-)NCBIHuRef
CHM1_15150,316,083 - 150,380,950 (-)NCBICHM1_1
T2T-CHM13v2.05152,043,070 - 152,133,808 (-)NCBIT2T-CHM13v2.0
Fat2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391155,141,435 - 55,228,331 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1155,141,435 - 55,227,390 (-)EnsemblGRCm39 Ensembl
GRCm381155,250,609 - 55,337,505 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1155,250,609 - 55,336,564 (-)EnsemblGRCm38mm10GRCm38
MGSCv371155,064,112 - 55,125,759 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361155,094,032 - 55,155,669 (-)NCBIMGSCv36mm8
Celera1159,839,223 - 59,900,066 (-)NCBICelera
Cytogenetic Map11B1.3NCBI
cM Map1132.5NCBI
Fat2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81039,864,765 - 39,957,027 (-)NCBIGRCr8
mRatBN7.21039,364,072 - 39,456,324 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1039,364,073 - 39,456,216 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1044,051,017 - 44,140,369 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01043,541,102 - 43,630,456 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01039,044,810 - 39,134,160 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01040,583,025 - 40,682,598 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1040,584,403 - 40,657,861 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01040,421,638 - 40,513,778 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41040,648,951 - 40,749,409 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11040,662,573 - 40,763,032 (-)NCBI
Celera1038,701,431 - 38,790,574 (-)NCBICelera
Cytogenetic Map10q22NCBI
Fat2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554085,941,800 - 6,033,878 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554085,944,236 - 6,033,776 (-)NCBIChiLan1.0ChiLan1.0
FAT2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v24146,732,401 - 146,819,774 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan15144,871,945 - 144,959,319 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v05146,927,558 - 147,014,920 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.15152,930,937 - 153,018,231 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl5152,932,400 - 152,995,784 (-)Ensemblpanpan1.1panPan2
FAT2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1457,743,007 - 57,823,740 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl457,742,651 - 57,823,740 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha457,562,217 - 57,642,911 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0458,186,256 - 58,264,746 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl458,185,984 - 58,263,273 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1458,001,758 - 58,082,455 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0458,099,856 - 58,180,790 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0458,604,015 - 58,684,660 (+)NCBIUU_Cfam_GSD_1.0
Fat2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024407213112,682,713 - 112,751,257 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493651511,132,059 - 11,199,153 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493651511,132,059 - 11,200,544 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
FAT2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1671,469,847 - 71,530,501 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11671,448,491 - 71,531,664 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21677,676,229 - 77,761,243 (+)NCBISscrofa10.2Sscrofa10.2susScr3
FAT2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12354,064,687 - 54,152,696 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2354,064,393 - 54,152,416 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366603423,577,450 - 23,643,131 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Fat2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462473337,433,349 - 37,520,756 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462473337,427,330 - 37,520,756 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in FAT2
1057 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 5q23.3-33.2(chr5:130860928-155321811)x3 copy number gain See cases [RCV000051193] Chr5:130860928..155321811 [GRCh38]
Chr5:130196621..154701371 [GRCh37]
Chr5:130224520..154681564 [NCBI36]
Chr5:5q23.3-33.2		 pathogenic
GRCh38/hg38 5q32-35.3(chr5:149714592-181272151)x3 copy number gain See cases [RCV000051863] Chr5:149714592..181272151 [GRCh38]
Chr5:149094155..180699152 [GRCh37]
Chr5:149074348..180631758 [NCBI36]
Chr5:5q32-35.3		 pathogenic
GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1 copy number loss See cases [RCV000053524] Chr5:106619588..156124387 [GRCh38]
Chr5:105955289..155551397 [GRCh37]
Chr5:105983188..155483975 [NCBI36]
Chr5:5q21.3-33.2		 pathogenic
NM_001447.2(FAT2):c.11376G>A (p.Arg3792=) single nucleotide variant Malignant melanoma [RCV000066780] Chr5:151517707 [GRCh38]
Chr5:150897268 [GRCh37]
Chr5:150877461 [NCBI36]
Chr5:5q33.1		 not provided
NM_001447.2(FAT2):c.5171C>T (p.Ser1724Leu) single nucleotide variant Malignant melanoma [RCV000066781] Chr5:151545956 [GRCh38]
Chr5:150925517 [GRCh37]
Chr5:150905710 [NCBI36]
Chr5:5q33.1		 not provided
NM_001447.2(FAT2):c.4443C>T (p.Leu1481=) single nucleotide variant Malignant melanoma [RCV000066782] Chr5:151550725 [GRCh38]
Chr5:150930286 [GRCh37]
Chr5:150910479 [NCBI36]
Chr5:5q33.1		 not provided
NM_001447.2(FAT2):c.3490C>T (p.Pro1164Ser) single nucleotide variant Malignant melanoma [RCV000066783] Chr5:151563409 [GRCh38]
Chr5:150942970 [GRCh37]
Chr5:150923163 [NCBI36]
Chr5:5q33.1		 not provided
NM_001447.2(FAT2):c.2551G>A (p.Asp851Asn) single nucleotide variant Malignant melanoma [RCV000066784] Chr5:151566381 [GRCh38]
Chr5:150945942 [GRCh37]
Chr5:150926135 [NCBI36]
Chr5:5q33.1		 not provided
NM_001447.2(FAT2):c.8754C>T (p.Asn2918=) single nucleotide variant Malignant melanoma [RCV000061182] Chr5:151542373 [GRCh38]
Chr5:150921934 [GRCh37]
Chr5:150902127 [NCBI36]
Chr5:5q33.1		 not provided
NM_001447.3(FAT2):c.10758G>C (p.Lys3586Asn) single nucleotide variant Spinocerebellar ataxia 45 [RCV000515514] Chr5:151521835 [GRCh38]
Chr5:150901396 [GRCh37]
Chr5:5q33.1		 pathogenic|uncertain significance
GRCh38/hg38 5q23.3-33.2(chr5:129847794-153353546)x3 copy number gain See cases [RCV000138808] Chr5:129847794..153353546 [GRCh38]
Chr5:129183487..152733106 [GRCh37]
Chr5:129211386..152713299 [NCBI36]
Chr5:5q23.3-33.2		 pathogenic
NM_001447.3(FAT2):c.10946G>A (p.Arg3649Gln) single nucleotide variant Spinocerebellar ataxia 45 [RCV000515512] Chr5:151521647 [GRCh38]
Chr5:150901208 [GRCh37]
Chr5:5q33.1		 pathogenic|uncertain significance
GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3 copy number gain not provided [RCV000487658] Chr5:94844077..178830410 [GRCh37]
Chr5:5q15-35.3		 likely benign
NC_000005.9:g.(?_86400000)_(154000000_?)del deletion Familial adenomatous polyposis 1 [RCV004561496]|Hereditary cancer-predisposing syndrome [RCV000554476] Chr5:86400000..154000000 [GRCh37]
Chr5:5q14.3-33.2		 pathogenic
GRCh37/hg19 5q23.3-33.3(chr5:130125085-157574910)x3 copy number gain See cases [RCV000449349] Chr5:130125085..157574910 [GRCh37]
Chr5:5q23.3-33.3		 pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789) copy number gain See cases [RCV000510723] Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3		 pathogenic
GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3 copy number gain See cases [RCV000448245] Chr5:106716357..180687338 [GRCh37]
Chr5:5q21.3-35.3		 pathogenic
GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1 copy number loss See cases [RCV000511978] Chr5:17628741..176575720 [GRCh37]
Chr5:5p15.1-q35.2		 pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3 copy number gain See cases [RCV000512039] Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3		 pathogenic
NM_001447.3(FAT2):c.13C>G (p.Leu5Val) single nucleotide variant not provided [RCV003427718]|not specified [RCV004289495] Chr5:151568919 [GRCh38]
Chr5:150948480 [GRCh37]
Chr5:5q33.1		 likely benign|uncertain significance
NM_001447.3(FAT2):c.5192G>A (p.Arg1731Gln) single nucleotide variant not provided [RCV004697280]|not specified [RCV004321878] Chr5:151545935 [GRCh38]
Chr5:150925496 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.5501C>A (p.Pro1834His) single nucleotide variant not specified [RCV004307078] Chr5:151545626 [GRCh38]
Chr5:150925187 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.3568G>C (p.Val1190Leu) single nucleotide variant not specified [RCV004310210] Chr5:151563331 [GRCh38]
Chr5:150942892 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.8020C>G (p.Leu2674Val) single nucleotide variant not specified [RCV004283673] Chr5:151543107 [GRCh38]
Chr5:150922668 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.3882C>A (p.Asp1294Glu) single nucleotide variant not specified [RCV004303248] Chr5:151554425 [GRCh38]
Chr5:150933986 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.9589C>A (p.Pro3197Thr) single nucleotide variant not specified [RCV004305808] Chr5:151531809 [GRCh38]
Chr5:150911370 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.3655G>A (p.Glu1219Lys) single nucleotide variant not provided [RCV003779964]|not specified [RCV004311721] Chr5:151554652 [GRCh38]
Chr5:150934213 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.12854G>T (p.Gly4285Val) single nucleotide variant not specified [RCV004315862] Chr5:151505761 [GRCh38]
Chr5:150885322 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.10945C>A (p.Arg3649=) single nucleotide variant not provided [RCV004546092] Chr5:151521648 [GRCh38]
Chr5:150901209 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.3575-15T>A single nucleotide variant not provided [RCV001609013] Chr5:151556417 [GRCh38]
Chr5:150935978 [GRCh37]
Chr5:5q33.1		 benign
GRCh37/hg19 5p15.33-q35.3(chr5:13648-180905029)x3 copy number gain not provided [RCV000744317] Chr5:13648..180905029 [GRCh37]
Chr5:5p15.33-q35.3		 pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:25328-180693344)x3 copy number gain not provided [RCV000744323] Chr5:25328..180693344 [GRCh37]
Chr5:5p15.33-q35.3		 pathogenic
GRCh37/hg19 5q33.1(chr5:150880850-150884089)x1 copy number loss not provided [RCV000745263] Chr5:150880850..150884089 [GRCh37]
Chr5:5q33.1		 benign
GRCh37/hg19 5q33.1(chr5:150880850-150884793)x1 copy number loss not provided [RCV000745264] Chr5:150880850..150884793 [GRCh37]
Chr5:5q33.1		 benign
GRCh37/hg19 5q33.1(chr5:150880850-150884839)x1 copy number loss not provided [RCV000745265] Chr5:150880850..150884839 [GRCh37]
Chr5:5q33.1		 benign
GRCh37/hg19 5q33.1(chr5:150880965-150884793)x1 copy number loss not provided [RCV000745266] Chr5:150880965..150884793 [GRCh37]
Chr5:5q33.1		 benign
GRCh37/hg19 5q33.1(chr5:150880965-150884839)x1 copy number loss not provided [RCV000745267] Chr5:150880965..150884839 [GRCh37]
Chr5:5q33.1		 benign
GRCh37/hg19 5q33.1(chr5:150880965-150884851)x1 copy number loss not provided [RCV000745268] Chr5:150880965..150884851 [GRCh37]
Chr5:5q33.1		 benign
GRCh37/hg19 5q33.1(chr5:150881018-150884089)x1 copy number loss not provided [RCV000745269] Chr5:150881018..150884089 [GRCh37]
Chr5:5q33.1		 benign
GRCh37/hg19 5q33.1(chr5:150881185-150883872)x1 copy number loss not provided [RCV000745270] Chr5:150881185..150883872 [GRCh37]
Chr5:5q33.1		 benign
GRCh37/hg19 5q33.1(chr5:150881185-150884057)x1 copy number loss not provided [RCV000745271] Chr5:150881185..150884057 [GRCh37]
Chr5:5q33.1		 benign
GRCh37/hg19 5q33.1(chr5:150881185-150884089)x1 copy number loss not provided [RCV000745272] Chr5:150881185..150884089 [GRCh37]
Chr5:5q33.1		 benign
GRCh37/hg19 5q33.1(chr5:150881185-150884839)x1 copy number loss not provided [RCV000745273] Chr5:150881185..150884839 [GRCh37]
Chr5:5q33.1		 benign
NM_001447.3(FAT2):c.10350G>A (p.Leu3450=) single nucleotide variant FAT2-related disorder [RCV003975826]|Spinocerebellar ataxia 45 [RCV001702947]|not provided [RCV001661161] Chr5:151525924 [GRCh38]
Chr5:150905485 [GRCh37]
Chr5:5q33.1		 benign
NM_001447.3(FAT2):c.12350C>T (p.Pro4117Leu) single nucleotide variant FAT2-related disorder [RCV003975798]|Spinocerebellar ataxia 45 [RCV001703148]|not provided [RCV001656772] Chr5:151507321 [GRCh38]
Chr5:150886882 [GRCh37]
Chr5:5q33.1		 benign
NM_001447.3(FAT2):c.2562G>A (p.Arg854=) single nucleotide variant FAT2-related disorder [RCV003975989]|Spinocerebellar ataxia 45 [RCV001703161]|not provided [RCV001688337] Chr5:151566370 [GRCh38]
Chr5:150945931 [GRCh37]
Chr5:5q33.1		 benign
NM_001447.3(FAT2):c.10437G>A (p.Pro3479=) single nucleotide variant FAT2-related disorder [RCV003968471]|not provided [RCV001678981] Chr5:151525837 [GRCh38]
Chr5:150905398 [GRCh37]
Chr5:5q33.1		 benign
NM_001447.3(FAT2):c.3259+215G>T single nucleotide variant not provided [RCV001611328] Chr5:151565458 [GRCh38]
Chr5:150945019 [GRCh37]
Chr5:5q33.1		 benign
NM_001447.3(FAT2):c.9213T>A (p.Thr3071=) single nucleotide variant FAT2-related disorder [RCV003966158]|Spinocerebellar ataxia 45 [RCV001702916]|not provided [RCV001534693] Chr5:151534623 [GRCh38]
Chr5:150914184 [GRCh37]
Chr5:5q33.1		 benign
NM_001447.3(FAT2):c.5544T>C (p.Pro1848=) single nucleotide variant Spinocerebellar ataxia 45 [RCV001702939]|not provided [RCV001635669] Chr5:151545583 [GRCh38]
Chr5:150925144 [GRCh37]
Chr5:5q33.1		 benign
NM_001447.3(FAT2):c.12507C>T (p.Ser4169=) single nucleotide variant FAT2-related disorder [RCV003983990]|Spinocerebellar ataxia 45 [RCV001703128]|not provided [RCV001595241] Chr5:151507164 [GRCh38]
Chr5:150886725 [GRCh37]
Chr5:5q33.1		 benign
NM_001447.3(FAT2):c.9194-241A>G single nucleotide variant not provided [RCV001679638] Chr5:151534883 [GRCh38]
Chr5:150914444 [GRCh37]
Chr5:5q33.1		 benign
NM_001447.3(FAT2):c.9039+20T>C single nucleotide variant not provided [RCV001691500] Chr5:151540547 [GRCh38]
Chr5:150920108 [GRCh37]
Chr5:5q33.1		 benign
NM_001447.3(FAT2):c.2361C>T (p.Ile787=) single nucleotide variant FAT2-related disorder [RCV003984053]|Spinocerebellar ataxia 45 [RCV001702237]|not provided [RCV001679706] Chr5:151566571 [GRCh38]
Chr5:150946132 [GRCh37]
Chr5:5q33.1		 benign
NM_001447.3(FAT2):c.3010G>A (p.Gly1004Ser) single nucleotide variant FAT2-related disorder [RCV003975853]|Spinocerebellar ataxia 45 [RCV001702954]|not provided [RCV001665571] Chr5:151565922 [GRCh38]
Chr5:150945483 [GRCh37]
Chr5:5q33.1		 benign
NM_001447.3(FAT2):c.9927C>T (p.Val3309=) single nucleotide variant not provided [RCV000926490] Chr5:151529277 [GRCh38]
Chr5:150908838 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.8271C>T (p.His2757=) single nucleotide variant not provided [RCV000926491] Chr5:151542856 [GRCh38]
Chr5:150922417 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.5642T>C (p.Ile1881Thr) single nucleotide variant FAT2-related disorder [RCV003935990]|not provided [RCV000964994] Chr5:151545485 [GRCh38]
Chr5:150925046 [GRCh37]
Chr5:5q33.1		 benign
NM_001447.3(FAT2):c.10509G>A (p.Ala3503=) single nucleotide variant not provided [RCV000905764] Chr5:151522084 [GRCh38]
Chr5:150901645 [GRCh37]
Chr5:5q33.1		 benign
NM_001447.3(FAT2):c.11989G>A (p.Glu3997Lys) single nucleotide variant not provided [RCV000950140] Chr5:151510091 [GRCh38]
Chr5:150889652 [GRCh37]
Chr5:5q33.1		 benign|likely benign
NM_001447.3(FAT2):c.4131C>T (p.Pro1377=) single nucleotide variant not provided [RCV000906268] Chr5:151553202 [GRCh38]
Chr5:150932763 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.6594A>G (p.Pro2198=) single nucleotide variant not provided [RCV000968066] Chr5:151544533 [GRCh38]
Chr5:150924094 [GRCh37]
Chr5:5q33.1		 benign
NM_001447.3(FAT2):c.6255A>G (p.Pro2085=) single nucleotide variant not provided [RCV000968067] Chr5:151544872 [GRCh38]
Chr5:150924433 [GRCh37]
Chr5:5q33.1		 benign
NM_001447.3(FAT2):c.6161G>C (p.Gly2054Ala) single nucleotide variant not provided [RCV000968068] Chr5:151544966 [GRCh38]
Chr5:150924527 [GRCh37]
Chr5:5q33.1		 benign
NM_001447.3(FAT2):c.5545G>A (p.Val1849Ile) single nucleotide variant not provided [RCV000968070] Chr5:151545582 [GRCh38]
Chr5:150925143 [GRCh37]
Chr5:5q33.1		 benign
NM_001447.3(FAT2):c.4050T>C (p.Asp1350=) single nucleotide variant not provided [RCV000968077] Chr5:151553283 [GRCh38]
Chr5:150932844 [GRCh37]
Chr5:5q33.1		 benign
NM_001447.3(FAT2):c.5726C>T (p.Thr1909Ile) single nucleotide variant FAT2-related disorder [RCV003920483]|not provided [RCV000879295] Chr5:151545401 [GRCh38]
Chr5:150924962 [GRCh37]
Chr5:5q33.1		 benign|likely benign
NM_001447.3(FAT2):c.3976C>T (p.Leu1326Phe) single nucleotide variant FAT2-related disorder [RCV003920505]|not provided [RCV000880245] Chr5:151553357 [GRCh38]
Chr5:150932918 [GRCh37]
Chr5:5q33.1		 benign|likely benign
NM_001447.3(FAT2):c.4015T>C (p.Trp1339Arg) single nucleotide variant not provided [RCV000968078] Chr5:151553318 [GRCh38]
Chr5:150932879 [GRCh37]
Chr5:5q33.1		 benign
NM_001447.3(FAT2):c.3884T>C (p.Leu1295Pro) single nucleotide variant not provided [RCV000968079] Chr5:151554423 [GRCh38]
Chr5:150933984 [GRCh37]
Chr5:5q33.1		 benign
NM_001447.3(FAT2):c.205G>A (p.Val69Met) single nucleotide variant not provided [RCV000966975] Chr5:151568727 [GRCh38]
Chr5:150948288 [GRCh37]
Chr5:5q33.1		 benign
NM_001447.3(FAT2):c.5235G>T (p.Val1745=) single nucleotide variant not provided [RCV000916230] Chr5:151545892 [GRCh38]
Chr5:150925453 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.8388A>G (p.Val2796=) single nucleotide variant not provided [RCV000880588] Chr5:151542739 [GRCh38]
Chr5:150922300 [GRCh37]
Chr5:5q33.1		 benign
NM_001447.3(FAT2):c.2436C>T (p.Asp812=) single nucleotide variant not provided [RCV000902551] Chr5:151566496 [GRCh38]
Chr5:150946057 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.3633+382C>A single nucleotide variant not provided [RCV003312636] Chr5:151555962 [GRCh38]
Chr5:150935523 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.4369G>A (p.Val1457Ile) single nucleotide variant not provided [RCV000968073] Chr5:151550799 [GRCh38]
Chr5:150930360 [GRCh37]
Chr5:5q33.1		 benign
NM_001447.3(FAT2):c.3555T>C (p.Phe1185=) single nucleotide variant FAT2-related disorder [RCV003920632]|not provided [RCV000885250] Chr5:151563344 [GRCh38]
Chr5:150942905 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.7413T>C (p.Thr2471=) single nucleotide variant not provided [RCV000963855] Chr5:151543714 [GRCh38]
Chr5:150923275 [GRCh37]
Chr5:5q33.1		 benign
NM_001447.3(FAT2):c.12060-4G>A single nucleotide variant not provided [RCV000907105] Chr5:151507615 [GRCh38]
Chr5:150887176 [GRCh37]
Chr5:5q33.1		 benign
NM_001447.3(FAT2):c.4805T>C (p.Phe1602Ser) single nucleotide variant not provided [RCV000888700] Chr5:151546322 [GRCh38]
Chr5:150925883 [GRCh37]
Chr5:5q33.1		 benign
NM_001447.3(FAT2):c.11354G>A (p.Arg3785Gln) single nucleotide variant FAT2-related disorder [RCV003923001]|not provided [RCV000902736] Chr5:151517729 [GRCh38]
Chr5:150897290 [GRCh37]
Chr5:5q33.1		 benign|likely benign
NM_001447.3(FAT2):c.9642C>T (p.Tyr3214=) single nucleotide variant FAT2-related disorder [RCV003935805]|not provided [RCV000952879] Chr5:151531756 [GRCh38]
Chr5:150911317 [GRCh37]
Chr5:5q33.1		 benign|likely benign
NM_001447.3(FAT2):c.4563C>T (p.His1521=) single nucleotide variant FAT2-related disorder [RCV003915813]|not provided [RCV000952880] Chr5:151550605 [GRCh38]
Chr5:150930166 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.4840C>G (p.Leu1614Val) single nucleotide variant not provided [RCV000880328] Chr5:151546287 [GRCh38]
Chr5:150925848 [GRCh37]
Chr5:5q33.1		 benign
NM_001447.3(FAT2):c.2868C>T (p.Pro956=) single nucleotide variant not provided [RCV000923389] Chr5:151566064 [GRCh38]
Chr5:150945625 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.9930C>T (p.Asn3310=) single nucleotide variant not provided [RCV000969210] Chr5:151529274 [GRCh38]
Chr5:150908835 [GRCh37]
Chr5:5q33.1		 benign|likely benign
NM_001447.3(FAT2):c.4524G>A (p.Thr1508=) single nucleotide variant not provided [RCV000963615] Chr5:151550644 [GRCh38]
Chr5:150930205 [GRCh37]
Chr5:5q33.1		 benign|likely benign
NM_001447.3(FAT2):c.6517A>C (p.Ser2173Arg) single nucleotide variant not specified [RCV004297992] Chr5:151544610 [GRCh38]
Chr5:150924171 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.5756A>G (p.His1919Arg) single nucleotide variant not specified [RCV004304840] Chr5:151545371 [GRCh38]
Chr5:150924932 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.11863A>C (p.Thr3955Pro) single nucleotide variant not provided [RCV000958830] Chr5:151512207 [GRCh38]
Chr5:150891768 [GRCh37]
Chr5:5q33.1		 benign
NM_001447.3(FAT2):c.13031G>A (p.Cys4344Tyr) single nucleotide variant FAT2-related disorder [RCV003933050]|not provided [RCV000916229] Chr5:151505584 [GRCh38]
Chr5:150885145 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.8058A>T (p.Val2686=) single nucleotide variant not provided [RCV000897747] Chr5:151543069 [GRCh38]
Chr5:150922630 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.3962G>A (p.Ser1321Asn) single nucleotide variant not specified [RCV004782193] Chr5:151553371 [GRCh38]
Chr5:150932932 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.11978C>T (p.Ala3993Val) single nucleotide variant Spinocerebellar ataxia 45 [RCV001250548] Chr5:151510102 [GRCh38]
Chr5:150889663 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.3760A>G (p.Arg1254Gly) single nucleotide variant not specified [RCV004304285] Chr5:151554547 [GRCh38]
Chr5:150934108 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.4196C>T (p.Thr1399Ile) single nucleotide variant not provided [RCV003104540] Chr5:151551567 [GRCh38]
Chr5:150931128 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.8000G>C (p.Gly2667Ala) single nucleotide variant not provided [RCV003106399] Chr5:151543127 [GRCh38]
Chr5:150922688 [GRCh37]
Chr5:5q33.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_001447.3(FAT2):c.12123G>A (p.Arg4041=) single nucleotide variant not provided [RCV003104431] Chr5:151507548 [GRCh38]
Chr5:150887109 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.7453C>T (p.Leu2485Phe) single nucleotide variant not provided [RCV003106903] Chr5:151543674 [GRCh38]
Chr5:150923235 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.12349_12350delinsAT (p.Pro4117Met) indel not provided [RCV003106959] Chr5:151507321..151507322 [GRCh38]
Chr5:150886882..150886883 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.4711G>A (p.Gly1571Ser) single nucleotide variant not provided [RCV001641446] Chr5:151549373 [GRCh38]
Chr5:150928934 [GRCh37]
Chr5:5q33.1		 benign
NM_001447.3(FAT2):c.12060-13_12060-11dup duplication Spinocerebellar ataxia 45 [RCV001702029] Chr5:151507621..151507622 [GRCh38]
Chr5:150887182..150887183 [GRCh37]
Chr5:5q33.1		 benign
NM_001447.3(FAT2):c.4242G>C (p.Ser1414=) single nucleotide variant not provided [RCV001720737] Chr5:151551521 [GRCh38]
Chr5:150931082 [GRCh37]
Chr5:5q33.1		 benign
NM_001447.3(FAT2):c.9811+206A>G single nucleotide variant not provided [RCV001671283] Chr5:151531381 [GRCh38]
Chr5:150910942 [GRCh37]
Chr5:5q33.1		 benign
NM_001447.3(FAT2):c.3491C>T (p.Pro1164Leu) single nucleotide variant FAT2-related disorder [RCV003980735]|Spinocerebellar ataxia 45 [RCV001702928]|not provided [RCV001595365] Chr5:151563408 [GRCh38]
Chr5:150942969 [GRCh37]
Chr5:5q33.1		 benign
NM_001447.3(FAT2):c.10854C>T (p.Tyr3618=) single nucleotide variant FAT2-related disorder [RCV003980760]|Spinocerebellar ataxia 45 [RCV001702929]|not provided [RCV001611102] Chr5:151521739 [GRCh38]
Chr5:150901300 [GRCh37]
Chr5:5q33.1		 benign
NM_001447.3(FAT2):c.2794C>T (p.Leu932=) single nucleotide variant FAT2-related disorder [RCV003980831]|Spinocerebellar ataxia 45 [RCV001703027]|not provided [RCV001636380] Chr5:151566138 [GRCh38]
Chr5:150945699 [GRCh37]
Chr5:5q33.1		 benign
NM_001447.3(FAT2):c.3375C>T (p.Ile1125=) single nucleotide variant FAT2-related disorder [RCV003980770]|Spinocerebellar ataxia 45 [RCV001703133]|not provided [RCV001615991] Chr5:151563524 [GRCh38]
Chr5:150943085 [GRCh37]
Chr5:5q33.1		 benign
NM_001447.3(FAT2):c.9811+224C>A single nucleotide variant not provided [RCV001720602] Chr5:151531363 [GRCh38]
Chr5:150910924 [GRCh37]
Chr5:5q33.1		 benign
NM_001447.3(FAT2):c.9040-38C>T single nucleotide variant not provided [RCV001720603] Chr5:151537984 [GRCh38]
Chr5:150917545 [GRCh37]
Chr5:5q33.1		 benign
NM_001447.3(FAT2):c.3574+112T>C single nucleotide variant not provided [RCV001720604] Chr5:151563213 [GRCh38]
Chr5:150942774 [GRCh37]
Chr5:5q33.1		 benign
NM_001447.3(FAT2):c.12517+99C>T single nucleotide variant not provided [RCV001720612] Chr5:151507055 [GRCh38]
Chr5:150886616 [GRCh37]
Chr5:5q33.1		 benign
NM_001447.3(FAT2):c.11905+182T>C single nucleotide variant not provided [RCV001720617] Chr5:151511983 [GRCh38]
Chr5:150891544 [GRCh37]
Chr5:5q33.1		 benign
NM_001447.3(FAT2):c.-20-25A>G single nucleotide variant not provided [RCV001612909] Chr5:151568976 [GRCh38]
Chr5:150948537 [GRCh37]
Chr5:5q33.1		 benign
NM_001447.3(FAT2):c.5919C>T (p.Tyr1973=) single nucleotide variant not provided [RCV001594495] Chr5:151545208 [GRCh38]
Chr5:150924769 [GRCh37]
Chr5:5q33.1		 benign
NM_001447.3(FAT2):c.2631T>C (p.Val877=) single nucleotide variant FAT2-related disorder [RCV003975868]|Spinocerebellar ataxia 45 [RCV001702226]|not provided [RCV001666685] Chr5:151566301 [GRCh38]
Chr5:150945862 [GRCh37]
Chr5:5q33.1		 benign
NM_001447.3(FAT2):c.10506+52T>G single nucleotide variant not provided [RCV001670224] Chr5:151525716 [GRCh38]
Chr5:150905277 [GRCh37]
Chr5:5q33.1		 benign
NM_001447.3(FAT2):c.11905+63A>G single nucleotide variant not provided [RCV001656896] Chr5:151512102 [GRCh38]
Chr5:150891663 [GRCh37]
Chr5:5q33.1		 benign
NM_001447.3(FAT2):c.1713G>T (p.Gly571=) single nucleotide variant FAT2-related disorder [RCV003984059]|not provided [RCV001678701] Chr5:151567219 [GRCh38]
Chr5:150946780 [GRCh37]
Chr5:5q33.1		 benign
NM_001447.3(FAT2):c.774G>A (p.Ser258=) single nucleotide variant FAT2-related disorder [RCV003976034]|Spinocerebellar ataxia 45 [RCV001702190]|not provided [RCV001713688] Chr5:151568158 [GRCh38]
Chr5:150947719 [GRCh37]
Chr5:5q33.1		 benign
NM_001447.3(FAT2):c.10893G>A (p.Met3631Ile) single nucleotide variant FAT2-related disorder [RCV003976032]|Spinocerebellar ataxia 45 [RCV001702326]|not provided [RCV001713687] Chr5:151521700 [GRCh38]
Chr5:150901261 [GRCh37]
Chr5:5q33.1		 benign
NM_001447.3(FAT2):c.-20-141T>C single nucleotide variant not provided [RCV001667841] Chr5:151569092 [GRCh38]
Chr5:150948653 [GRCh37]
Chr5:5q33.1		 benign
NM_001447.3(FAT2):c.12060-112C>T single nucleotide variant not provided [RCV001666032] Chr5:151507723 [GRCh38]
Chr5:150887284 [GRCh37]
Chr5:5q33.1		 benign
NM_001447.3(FAT2):c.9083A>G (p.His3028Arg) single nucleotide variant not specified [RCV004305448] Chr5:151537903 [GRCh38]
Chr5:150917464 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.11825C>G (p.Thr3942Ser) single nucleotide variant not provided [RCV000958831] Chr5:151512245 [GRCh38]
Chr5:150891806 [GRCh37]
Chr5:5q33.1		 benign
NM_001447.3(FAT2):c.5646C>G (p.Val1882=) single nucleotide variant not provided [RCV000968069] Chr5:151545481 [GRCh38]
Chr5:150925042 [GRCh37]
Chr5:5q33.1		 benign
NM_001447.3(FAT2):c.5007C>A (p.Ile1669=) single nucleotide variant not provided [RCV000968071] Chr5:151546120 [GRCh38]
Chr5:150925681 [GRCh37]
Chr5:5q33.1		 benign
NM_001447.3(FAT2):c.4537G>A (p.Asp1513Asn) single nucleotide variant not provided [RCV000968072]|not specified [RCV004029933] Chr5:151550631 [GRCh38]
Chr5:150930192 [GRCh37]
Chr5:5q33.1		 benign|likely benign
NM_001447.3(FAT2):c.7851C>T (p.Asn2617=) single nucleotide variant not provided [RCV000933249] Chr5:151543276 [GRCh38]
Chr5:150922837 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.829G>C (p.Val277Leu) single nucleotide variant FAT2-related disorder [RCV003915861]|Spinocerebellar ataxia 45 [RCV002502968]|not provided [RCV000954917] Chr5:151568103 [GRCh38]
Chr5:150947664 [GRCh37]
Chr5:5q33.1		 benign|likely benign
NM_001447.3(FAT2):c.9010G>A (p.Val3004Ile) single nucleotide variant not provided [RCV000880787] Chr5:151540596 [GRCh38]
Chr5:150920157 [GRCh37]
Chr5:5q33.1		 benign|likely benign
NM_001447.3(FAT2):c.10553G>A (p.Arg3518His) single nucleotide variant FAT2-related disorder [RCV003930777]|not provided [RCV000890478] Chr5:151522040 [GRCh38]
Chr5:150901601 [GRCh37]
Chr5:5q33.1		 benign|likely benign
NM_001447.3(FAT2):c.8719G>A (p.Ala2907Thr) single nucleotide variant not provided [RCV000958091] Chr5:151542408 [GRCh38]
Chr5:150921969 [GRCh37]
Chr5:5q33.1		 benign|likely benign
NM_001447.3(FAT2):c.742C>T (p.Pro248Ser) single nucleotide variant not provided [RCV000958092] Chr5:151568190 [GRCh38]
Chr5:150947751 [GRCh37]
Chr5:5q33.1		 benign|likely benign
NM_001447.3(FAT2):c.8025G>A (p.Val2675=) single nucleotide variant not provided [RCV000889967] Chr5:151543102 [GRCh38]
Chr5:150922663 [GRCh37]
Chr5:5q33.1		 benign
NM_001447.3(FAT2):c.12464C>G (p.Ser4155Cys) single nucleotide variant FAT2-related disorder [RCV003968119]|Spinocerebellar ataxia 45 [RCV001849189]|not provided [RCV000890510] Chr5:151507207 [GRCh38]
Chr5:150886768 [GRCh37]
Chr5:5q33.1		 benign|likely benign|uncertain significance
NM_001447.3(FAT2):c.9294C>T (p.Asp3098=) single nucleotide variant FAT2-related disorder [RCV003968099]|not provided [RCV000889596] Chr5:151534542 [GRCh38]
Chr5:150914103 [GRCh37]
Chr5:5q33.1		 benign
NM_001447.3(FAT2):c.5809C>T (p.Arg1937Trp) single nucleotide variant not provided [RCV002967526] Chr5:151545318 [GRCh38]
Chr5:150924879 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.5288T>C (p.Phe1763Ser) single nucleotide variant not provided [RCV002967427] Chr5:151545839 [GRCh38]
Chr5:150925400 [GRCh37]
Chr5:5q33.1		 uncertain significance
GRCh37/hg19 5q33.1(chr5:150706776-150954695)x3 copy number gain not provided [RCV002472688] Chr5:150706776..150954695 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.8842+41C>T single nucleotide variant not provided [RCV001596218] Chr5:151542244 [GRCh38]
Chr5:150921805 [GRCh37]
Chr5:5q33.1		 benign
NM_001447.3(FAT2):c.9194-66T>C single nucleotide variant not provided [RCV001636425] Chr5:151534708 [GRCh38]
Chr5:150914269 [GRCh37]
Chr5:5q33.1		 benign
NM_001447.3(FAT2):c.2091G>C (p.Glu697Asp) single nucleotide variant not specified [RCV004314986] Chr5:151566841 [GRCh38]
Chr5:150946402 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.10507-151dup duplication not provided [RCV001720615] Chr5:151522227..151522228 [GRCh38]
Chr5:150901788..150901789 [GRCh37]
Chr5:5q33.1		 benign
NM_001447.3(FAT2):c.11906-70T>A single nucleotide variant not provided [RCV001720626] Chr5:151510244 [GRCh38]
Chr5:150889805 [GRCh37]
Chr5:5q33.1		 benign
NM_001447.3(FAT2):c.9953G>A (p.Arg3318Gln) single nucleotide variant not provided [RCV001638797] Chr5:151529251 [GRCh38]
Chr5:150908812 [GRCh37]
Chr5:5q33.1		 benign
NM_001447.3(FAT2):c.12518-36dup duplication not provided [RCV001659441] Chr5:151506129..151506130 [GRCh38]
Chr5:150885690..150885691 [GRCh37]
Chr5:5q33.1		 benign
NM_001447.3(FAT2):c.12518-20_12518-17dup duplication not provided [RCV001678266] Chr5:151506113..151506114 [GRCh38]
Chr5:150885674..150885675 [GRCh37]
Chr5:5q33.1		 benign
NM_001447.3(FAT2):c.12518-130C>A single nucleotide variant not provided [RCV001643636] Chr5:151506227 [GRCh38]
Chr5:150885788 [GRCh37]
Chr5:5q33.1		 benign
NM_001447.3(FAT2):c.11905+138dup duplication not provided [RCV001715079] Chr5:151512025..151512026 [GRCh38]
Chr5:150891586..150891587 [GRCh37]
Chr5:5q33.1		 benign
NM_001447.3(FAT2):c.10308+206C>T single nucleotide variant not provided [RCV001688472] Chr5:151527028 [GRCh38]
Chr5:150906589 [GRCh37]
Chr5:5q33.1		 benign
NM_001447.3(FAT2):c.9812-186del deletion not provided [RCV001598231] Chr5:151529578 [GRCh38]
Chr5:150909139 [GRCh37]
Chr5:5q33.1		 benign
NM_001447.3(FAT2):c.10027-125A>G single nucleotide variant not provided [RCV001637643] Chr5:151528258 [GRCh38]
Chr5:150907819 [GRCh37]
Chr5:5q33.1		 benign
NM_001447.3(FAT2):c.4543G>A (p.Gly1515Ser) single nucleotide variant not provided [RCV001637546] Chr5:151550625 [GRCh38]
Chr5:150930186 [GRCh37]
Chr5:5q33.1		 benign
NM_001447.3(FAT2):c.9193+215A>G single nucleotide variant not provided [RCV001621786] Chr5:151537578 [GRCh38]
Chr5:150917139 [GRCh37]
Chr5:5q33.1		 benign
NM_001447.3(FAT2):c.10524C>A (p.Ile3508=) single nucleotide variant FAT2-related disorder [RCV003975903]|not provided [RCV001678159] Chr5:151522069 [GRCh38]
Chr5:150901630 [GRCh37]
Chr5:5q33.1		 benign
NM_001447.3(FAT2):c.4384G>A (p.Val1462Met) single nucleotide variant not provided [RCV001595856] Chr5:151550784 [GRCh38]
Chr5:150930345 [GRCh37]
Chr5:5q33.1		 benign
NM_001447.3(FAT2):c.4092G>A (p.Val1364=) single nucleotide variant not provided [RCV001715280] Chr5:151553241 [GRCh38]
Chr5:150932802 [GRCh37]
Chr5:5q33.1		 benign
NM_001447.3(FAT2):c.12060-28T>C single nucleotide variant not provided [RCV001598984] Chr5:151507639 [GRCh38]
Chr5:150887200 [GRCh37]
Chr5:5q33.1		 benign
NM_001447.3(FAT2):c.10308+74T>C single nucleotide variant not provided [RCV001613936] Chr5:151527160 [GRCh38]
Chr5:150906721 [GRCh37]
Chr5:5q33.1		 benign
NM_001447.3(FAT2):c.10557C>G (p.Val3519=) single nucleotide variant FAT2-related disorder [RCV003975815]|not provided [RCV001657293] Chr5:151522036 [GRCh38]
Chr5:150901597 [GRCh37]
Chr5:5q33.1		 benign
NM_001447.3(FAT2):c.1720C>T (p.Arg574Cys) single nucleotide variant FAT2-related disorder [RCV003984030]|Spinocerebellar ataxia 45 [RCV001703035]|not provided [RCV001654995] Chr5:151567212 [GRCh38]
Chr5:150946773 [GRCh37]
Chr5:5q33.1		 benign
NM_001447.3(FAT2):c.477G>A (p.Glu159=) single nucleotide variant not provided [RCV001691496] Chr5:151568455 [GRCh38]
Chr5:150948016 [GRCh37]
Chr5:5q33.1		 benign
NM_001447.3(FAT2):c.7283T>C (p.Phe2428Ser) single nucleotide variant FAT2-related disorder [RCV003984055]|Spinocerebellar ataxia 45 [RCV001703051]|not provided [RCV001681206] Chr5:151543844 [GRCh38]
Chr5:150923405 [GRCh37]
Chr5:5q33.1		 benign
NM_001447.3(FAT2):c.9952C>T (p.Arg3318Trp) single nucleotide variant FAT2-related disorder [RCV003975931]|not provided [RCV001680978] Chr5:151529252 [GRCh38]
Chr5:150908813 [GRCh37]
Chr5:5q33.1		 benign
NM_001447.3(FAT2):c.10027-47G>A single nucleotide variant not provided [RCV001610133] Chr5:151528180 [GRCh38]
Chr5:150907741 [GRCh37]
Chr5:5q33.1		 benign
NM_001447.3(FAT2):c.10507-52G>A single nucleotide variant not provided [RCV001692617] Chr5:151522138 [GRCh38]
Chr5:150901699 [GRCh37]
Chr5:5q33.1		 benign
NM_001447.3(FAT2):c.1527C>T (p.Pro509=) single nucleotide variant FAT2-related disorder [RCV003980845]|Spinocerebellar ataxia 45 [RCV001703143]|not provided [RCV001648080] Chr5:151567405 [GRCh38]
Chr5:150946966 [GRCh37]
Chr5:5q33.1		 benign
NM_001447.3(FAT2):c.2650G>A (p.Glu884Lys) single nucleotide variant Spastic ataxia [RCV001647220]|not provided [RCV003558805]|not specified [RCV004035264] Chr5:151566282 [GRCh38]
Chr5:150945843 [GRCh37]
Chr5:5q33.1		 likely benign|uncertain significance
NM_001447.3(FAT2):c.3259+162G>T single nucleotide variant not provided [RCV001651711] Chr5:151565511 [GRCh38]
Chr5:150945072 [GRCh37]
Chr5:5q33.1		 benign
NM_001447.3(FAT2):c.11043T>C (p.Asp3681=) single nucleotide variant FAT2-related disorder [RCV003980766]|Spinocerebellar ataxia 45 [RCV001702931]|not provided [RCV001613932] Chr5:151521550 [GRCh38]
Chr5:150901111 [GRCh37]
Chr5:5q33.1		 benign
NM_001447.3(FAT2):c.10541T>C (p.Leu3514Ser) single nucleotide variant FAT2-related disorder [RCV003980796]|Spinocerebellar ataxia 45 [RCV001702935]|not provided [RCV001620268] Chr5:151522052 [GRCh38]
Chr5:150901613 [GRCh37]
Chr5:5q33.1		 benign
NM_001447.3(FAT2):c.10673G>A (p.Arg3558Gln) single nucleotide variant Spinocerebellar ataxia 45 [RCV001262675] Chr5:151521920 [GRCh38]
Chr5:150901481 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.9896C>T (p.Ser3299Phe) single nucleotide variant Spinocerebellar ataxia 45 [RCV001537884] Chr5:151529308 [GRCh38]
Chr5:150908869 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.8976G>C (p.Gln2992His) single nucleotide variant not specified [RCV001281372] Chr5:151540630 [GRCh38]
Chr5:150920191 [GRCh37]
Chr5:5q33.1		 benign
NM_001447.3(FAT2):c.2467G>A (p.Gly823Ser) single nucleotide variant not provided [RCV004598678] Chr5:151566465 [GRCh38]
Chr5:150946026 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.10666A>G (p.Thr3556Ala) single nucleotide variant not provided [RCV001391830]|not specified [RCV004037713] Chr5:151521927 [GRCh38]
Chr5:150901488 [GRCh37]
Chr5:5q33.1		 likely benign|uncertain significance
NM_001447.3(FAT2):c.4684G>A (p.Ala1562Thr) single nucleotide variant not provided [RCV001354772] Chr5:151549400 [GRCh38]
Chr5:150928961 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.12798_12799del (p.Cys4267fs) deletion not provided [RCV001356844] Chr5:151505816..151505817 [GRCh38]
Chr5:150885377..150885378 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.12763C>T (p.Arg4255Trp) single nucleotide variant not provided [RCV001356382] Chr5:151505852 [GRCh38]
Chr5:150885413 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.3399C>A (p.Asn1133Lys) single nucleotide variant FAT2-related disorder [RCV003918880]|not provided [RCV001729855]|not specified [RCV001356718] Chr5:151563500 [GRCh38]
Chr5:150943061 [GRCh37]
Chr5:5q33.1		 benign|likely benign
NM_001447.3(FAT2):c.6437G>A (p.Arg2146Gln) single nucleotide variant not provided [RCV001357105] Chr5:151544690 [GRCh38]
Chr5:150924251 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.11915G>A (p.Cys3972Tyr) single nucleotide variant not provided [RCV001354941] Chr5:151510165 [GRCh38]
Chr5:150889726 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.11330G>A (p.Arg3777Lys) single nucleotide variant not provided [RCV001358431] Chr5:151517753 [GRCh38]
Chr5:150897314 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.8206A>G (p.Lys2736Glu) single nucleotide variant not provided [RCV001354693] Chr5:151542921 [GRCh38]
Chr5:150922482 [GRCh37]
Chr5:5q33.1		 benign|likely benign
NM_001447.3(FAT2):c.12060-13_12060-12insCTT insertion not provided [RCV001536820] Chr5:151507623..151507624 [GRCh38]
Chr5:150887184..150887185 [GRCh37]
Chr5:5q33.1		 benign
NM_001447.3(FAT2):c.214C>T (p.Arg72Trp) single nucleotide variant not provided [RCV001417501] Chr5:151568718 [GRCh38]
Chr5:150948279 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.11898T>C (p.His3966=) single nucleotide variant FAT2-related disorder [RCV003980781]|Spinocerebellar ataxia 45 [RCV001703019]|not provided [RCV001614054] Chr5:151512172 [GRCh38]
Chr5:150891733 [GRCh37]
Chr5:5q33.1		 benign
NM_001447.3(FAT2):c.10165-25A>C single nucleotide variant not provided [RCV001669094] Chr5:151527402 [GRCh38]
Chr5:150906963 [GRCh37]
Chr5:5q33.1		 benign
NM_001447.3(FAT2):c.3259+142G>C single nucleotide variant not provided [RCV001713707] Chr5:151565531 [GRCh38]
Chr5:150945092 [GRCh37]
Chr5:5q33.1		 benign
NM_001447.3(FAT2):c.11317+50C>T single nucleotide variant not provided [RCV001696059] Chr5:151521226 [GRCh38]
Chr5:150900787 [GRCh37]
Chr5:5q33.1		 benign
NM_001447.3(FAT2):c.3541T>C (p.Tyr1181His) single nucleotide variant FAT2-related disorder [RCV003975946]|Spinocerebellar ataxia 45 [RCV001702240]|not provided [RCV001678840] Chr5:151563358 [GRCh38]
Chr5:150942919 [GRCh37]
Chr5:5q33.1		 benign
NM_001447.3(FAT2):c.2057T>C (p.Phe686Ser) single nucleotide variant FAT2-related disorder [RCV003976033]|Spinocerebellar ataxia 45 [RCV001702030]|not provided [RCV001720339] Chr5:151566875 [GRCh38]
Chr5:150946436 [GRCh37]
Chr5:5q33.1		 benign
NM_001447.3(FAT2):c.1365C>T (p.Ala455=) single nucleotide variant not provided [RCV001716831] Chr5:151567567 [GRCh38]
Chr5:150947128 [GRCh37]
Chr5:5q33.1		 benign
NM_001447.3(FAT2):c.10026+80A>G single nucleotide variant not provided [RCV001537627] Chr5:151529098 [GRCh38]
Chr5:150908659 [GRCh37]
Chr5:5q33.1		 benign
NM_001447.3(FAT2):c.7558A>G (p.Ile2520Val) single nucleotide variant not provided [RCV001497573]|not specified [RCV004037381] Chr5:151543569 [GRCh38]
Chr5:150923130 [GRCh37]
Chr5:5q33.1		 likely benign|uncertain significance
NM_001447.3(FAT2):c.6913C>T (p.Arg2305Cys) single nucleotide variant not provided [RCV001440829] Chr5:151544214 [GRCh38]
Chr5:150923775 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.3058G>A (p.Val1020Ile) single nucleotide variant not provided [RCV003108783] Chr5:151565874 [GRCh38]
Chr5:150945435 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.9651G>C (p.Val3217=) single nucleotide variant not provided [RCV003108796] Chr5:151531747 [GRCh38]
Chr5:150911308 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.1141G>A (p.Val381Met) single nucleotide variant not provided [RCV002967417]|not specified [RCV004617136] Chr5:151567791 [GRCh38]
Chr5:150947352 [GRCh37]
Chr5:5q33.1		 uncertain significance
GRCh37/hg19 5q32-35.3(chr5:149010383-180719789) copy number gain Hunter-McAlpine craniosynostosis [RCV002280612] Chr5:149010383..180719789 [GRCh37]
Chr5:5q32-35.3		 pathogenic
NM_001447.3(FAT2):c.11021C>A (p.Ala3674Glu) single nucleotide variant not provided [RCV003238540] Chr5:151521572 [GRCh38]
Chr5:150901133 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.1521T>G (p.Ile507Met) single nucleotide variant Spinocerebellar ataxia 45 [RCV001733576] Chr5:151567411 [GRCh38]
Chr5:150946972 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.8257A>G (p.Lys2753Glu) single nucleotide variant not specified [RCV001815082] Chr5:151542870 [GRCh38]
Chr5:150922431 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.6171A>G (p.Arg2057=) single nucleotide variant not provided [RCV001816412] Chr5:151544956 [GRCh38]
Chr5:150924517 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.5237T>C (p.Val1746Ala) single nucleotide variant Spinocerebellar ataxia 45 [RCV001809085] Chr5:151545890 [GRCh38]
Chr5:150925451 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.11392T>C (p.Phe3798Leu) single nucleotide variant not specified [RCV001815129] Chr5:151517691 [GRCh38]
Chr5:150897252 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.6384G>A (p.Lys2128=) single nucleotide variant not provided [RCV004809296] Chr5:151544743 [GRCh38]
Chr5:150924304 [GRCh37]
Chr5:5q33.1		 likely benign
GRCh37/hg19 5q23.3-33.3(chr5:130125085-157574910) copy number gain not specified [RCV002053526] Chr5:130125085..157574910 [GRCh37]
Chr5:5q23.3-33.3		 pathogenic
NM_001447.3(FAT2):c.12899T>C (p.Met4300Thr) single nucleotide variant Spinocerebellar ataxia 45 [RCV001849225] Chr5:151505716 [GRCh38]
Chr5:150885277 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.9835C>G (p.Leu3279Val) single nucleotide variant Spinocerebellar ataxia 45 [RCV002226586] Chr5:151529369 [GRCh38]
Chr5:150908930 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.397C>T (p.Arg133Cys) single nucleotide variant not provided [RCV002224774] Chr5:151568535 [GRCh38]
Chr5:150948096 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.6088C>T (p.Arg2030Trp) single nucleotide variant not specified [RCV004783279] Chr5:151545039 [GRCh38]
Chr5:150924600 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.6215A>C (p.His2072Pro) single nucleotide variant not provided [RCV003112383] Chr5:151544912 [GRCh38]
Chr5:150924473 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.4022G>A (p.Arg1341Gln) single nucleotide variant not provided [RCV003115264] Chr5:151553311 [GRCh38]
Chr5:150932872 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.2230G>C (p.Ala744Pro) single nucleotide variant not provided [RCV003114901] Chr5:151566702 [GRCh38]
Chr5:150946263 [GRCh37]
Chr5:5q33.1		 uncertain significance
NC_000005.9:g.(?_150885126)_(151304110_?)dup duplication not provided [RCV003113208] Chr5:150885126..151304110 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.11792C>T (p.Thr3931Met) single nucleotide variant Spinocerebellar ataxia 45 [RCV003143587]|not provided [RCV003116169]|not specified [RCV004245933] Chr5:151512278 [GRCh38]
Chr5:150891839 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.9021C>T (p.Asn3007=) single nucleotide variant not provided [RCV003117242] Chr5:151540585 [GRCh38]
Chr5:150920146 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.12111C>T (p.Pro4037=) single nucleotide variant not provided [RCV003117276] Chr5:151507560 [GRCh38]
Chr5:150887121 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.946T>C (p.Ser316Pro) single nucleotide variant not provided [RCV003115145] Chr5:151567986 [GRCh38]
Chr5:150947547 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.59A>G (p.Lys20Arg) single nucleotide variant not provided [RCV003121821] Chr5:151568873 [GRCh38]
Chr5:150948434 [GRCh37]
Chr5:5q33.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_001447.3(FAT2):c.12853G>A (p.Gly4285Arg) single nucleotide variant not specified [RCV004783683] Chr5:151505762 [GRCh38]
Chr5:150885323 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.3337G>A (p.Gly1113Ser) single nucleotide variant not provided [RCV003730399]|not specified [RCV003123422] Chr5:151563562 [GRCh38]
Chr5:150943123 [GRCh37]
Chr5:5q33.1		 likely benign|uncertain significance
NM_001447.3(FAT2):c.456G>A (p.Ser152=) single nucleotide variant not provided [RCV003121167] Chr5:151568476 [GRCh38]
Chr5:150948037 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.8113C>A (p.Pro2705Thr) single nucleotide variant not specified [RCV004300880] Chr5:151543014 [GRCh38]
Chr5:150922575 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.7376G>A (p.Gly2459Glu) single nucleotide variant Spinocerebellar ataxia 45 [RCV003234870] Chr5:151543751 [GRCh38]
Chr5:150923312 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.1653del (p.Leu552fs) deletion Spinocerebellar ataxia 45 [RCV002287578]|not provided [RCV003728069] Chr5:151567279 [GRCh38]
Chr5:150946840 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.9770G>A (p.Ser3257Asn) single nucleotide variant not provided [RCV002297229] Chr5:151531628 [GRCh38]
Chr5:150911189 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.602G>C (p.Gly201Ala) single nucleotide variant FAT2-related disorder [RCV003933742]|not provided [RCV002293132] Chr5:151568330 [GRCh38]
Chr5:150947891 [GRCh37]
Chr5:5q33.1		 benign|likely benign
NM_001447.3(FAT2):c.1731G>T (p.Trp577Cys) single nucleotide variant not specified [RCV004309465] Chr5:151567201 [GRCh38]
Chr5:150946762 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.6032T>C (p.Met2011Thr) single nucleotide variant not specified [RCV004310280] Chr5:151545095 [GRCh38]
Chr5:150924656 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.11591T>C (p.Ile3864Thr) single nucleotide variant not specified [RCV004314442] Chr5:151512479 [GRCh38]
Chr5:150892040 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.9844G>C (p.Glu3282Gln) single nucleotide variant not specified [RCV004304763] Chr5:151529360 [GRCh38]
Chr5:150908921 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.5240A>G (p.Asp1747Gly) single nucleotide variant not provided [RCV002613759]|not specified [RCV004065825] Chr5:151545887 [GRCh38]
Chr5:150925448 [GRCh37]
Chr5:5q33.1		 uncertain significance
GRCh37/hg19 5q33.1-35.2(chr5:150535183-172906793)x3 copy number gain not provided [RCV002474507] Chr5:150535183..172906793 [GRCh37]
Chr5:5q33.1-35.2		 pathogenic
NM_001447.3(FAT2):c.11458C>A (p.Leu3820Met) single nucleotide variant not provided [RCV002296803] Chr5:151517625 [GRCh38]
Chr5:150897186 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.6217C>A (p.Leu2073Met) single nucleotide variant not provided [RCV002301456] Chr5:151544910 [GRCh38]
Chr5:150924471 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.3834A>C (p.Arg1278Ser) single nucleotide variant not provided [RCV002304687] Chr5:151554473 [GRCh38]
Chr5:150934034 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.8741C>T (p.Ser2914Phe) single nucleotide variant not provided [RCV002295635] Chr5:151542386 [GRCh38]
Chr5:150921947 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.7039G>C (p.Val2347Leu) single nucleotide variant not provided [RCV002296047] Chr5:151544088 [GRCh38]
Chr5:150923649 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.3026C>T (p.Ala1009Val) single nucleotide variant not provided [RCV003095562] Chr5:151565906 [GRCh38]
Chr5:150945467 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.3322T>C (p.Leu1108=) single nucleotide variant not provided [RCV002881464] Chr5:151563577 [GRCh38]
Chr5:150943138 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.269G>A (p.Gly90Asp) single nucleotide variant FAT2-related disorder [RCV003943554]|not provided [RCV002904212] Chr5:151568663 [GRCh38]
Chr5:150948224 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.6843C>T (p.Ile2281=) single nucleotide variant not provided [RCV003074585] Chr5:151544284 [GRCh38]
Chr5:150923845 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.2891T>C (p.Leu964Pro) single nucleotide variant not provided [RCV002481225] Chr5:151566041 [GRCh38]
Chr5:150945602 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.5127T>C (p.Ser1709=) single nucleotide variant not provided [RCV002512285] Chr5:151546000 [GRCh38]
Chr5:150925561 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.7036C>A (p.His2346Asn) single nucleotide variant not specified [RCV004097509] Chr5:151544091 [GRCh38]
Chr5:150923652 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.9012C>T (p.Val3004=) single nucleotide variant not provided [RCV003095599] Chr5:151540594 [GRCh38]
Chr5:150920155 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.8558A>G (p.Glu2853Gly) single nucleotide variant not provided [RCV002616549] Chr5:151542569 [GRCh38]
Chr5:150922130 [GRCh37]
Chr5:5q33.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_001447.3(FAT2):c.736G>A (p.Val246Met) single nucleotide variant not specified [RCV004193859] Chr5:151568196 [GRCh38]
Chr5:150947757 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.10735T>G (p.Ser3579Ala) single nucleotide variant not specified [RCV004114390] Chr5:151521858 [GRCh38]
Chr5:150901419 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.4537G>C (p.Asp1513His) single nucleotide variant not provided [RCV002903891]|not specified [RCV004066139] Chr5:151550631 [GRCh38]
Chr5:150930192 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.11353C>T (p.Arg3785Trp) single nucleotide variant not provided [RCV002775145] Chr5:151517730 [GRCh38]
Chr5:150897291 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.11709G>A (p.Ser3903=) single nucleotide variant not provided [RCV002685642] Chr5:151512361 [GRCh38]
Chr5:150891922 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.782T>G (p.Val261Gly) single nucleotide variant not provided [RCV002730380] Chr5:151568150 [GRCh38]
Chr5:150947711 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.9105C>A (p.Ala3035=) single nucleotide variant not provided [RCV002512283] Chr5:151537881 [GRCh38]
Chr5:150917442 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.10451T>C (p.Val3484Ala) single nucleotide variant not provided [RCV002967604]|not specified [RCV004068331] Chr5:151525823 [GRCh38]
Chr5:150905384 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.1721G>A (p.Arg574His) single nucleotide variant not specified [RCV004098045] Chr5:151567211 [GRCh38]
Chr5:150946772 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.555T>C (p.Tyr185=) single nucleotide variant not provided [RCV002636130]|not specified [RCV003491135] Chr5:151568377 [GRCh38]
Chr5:150947938 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.12647T>C (p.Met4216Thr) single nucleotide variant not specified [RCV004120159] Chr5:151505968 [GRCh38]
Chr5:150885529 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.6994T>A (p.Ser2332Thr) single nucleotide variant not specified [RCV004146690] Chr5:151544133 [GRCh38]
Chr5:150923694 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.3408del (p.Met1137fs) deletion not provided [RCV002880743] Chr5:151563491 [GRCh38]
Chr5:150943052 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.4751G>A (p.Arg1584Gln) single nucleotide variant not provided [RCV003075536]|not specified [RCV004071816] Chr5:151549333 [GRCh38]
Chr5:150928894 [GRCh37]
Chr5:5q33.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_001447.3(FAT2):c.12612G>A (p.Pro4204=) single nucleotide variant not provided [RCV002947267] Chr5:151506003 [GRCh38]
Chr5:150885564 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.12333dup (p.Asn4112fs) duplication not provided [RCV002858454] Chr5:151507337..151507338 [GRCh38]
Chr5:150886898..150886899 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.11464-13A>G single nucleotide variant not provided [RCV002776020] Chr5:151512619 [GRCh38]
Chr5:150892180 [GRCh37]
Chr5:5q33.1		 benign
NM_001447.3(FAT2):c.640C>T (p.Arg214Ter) single nucleotide variant not provided [RCV002617020] Chr5:151568292 [GRCh38]
Chr5:150947853 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.10275A>T (p.Arg3425Ser) single nucleotide variant not specified [RCV004114722] Chr5:151527267 [GRCh38]
Chr5:150906828 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.3127G>A (p.Glu1043Lys) single nucleotide variant not provided [RCV002820058] Chr5:151565805 [GRCh38]
Chr5:150945366 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.10945C>T (p.Arg3649Trp) single nucleotide variant not provided [RCV002618276] Chr5:151521648 [GRCh38]
Chr5:150901209 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.3215G>A (p.Arg1072His) single nucleotide variant not provided [RCV003546909]|not specified [RCV004151498] Chr5:151565717 [GRCh38]
Chr5:150945278 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.8263A>G (p.Met2755Val) single nucleotide variant not provided [RCV002690500] Chr5:151542864 [GRCh38]
Chr5:150922425 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.12412C>T (p.Arg4138Trp) single nucleotide variant FAT2-related disorder [RCV003963405]|not provided [RCV002908680] Chr5:151507259 [GRCh38]
Chr5:150886820 [GRCh37]
Chr5:5q33.1		 benign
NM_001447.3(FAT2):c.9917C>T (p.Thr3306Ile) single nucleotide variant not provided [RCV002908682] Chr5:151529287 [GRCh38]
Chr5:150908848 [GRCh37]
Chr5:5q33.1		 benign
NM_001447.3(FAT2):c.10413C>A (p.Asn3471Lys) single nucleotide variant FAT2-related disorder [RCV003963457]|not provided [RCV002947722]|not specified [RCV004067229] Chr5:151525861 [GRCh38]
Chr5:150905422 [GRCh37]
Chr5:5q33.1		 likely benign|uncertain significance
NM_001447.3(FAT2):c.4096C>T (p.His1366Tyr) single nucleotide variant not provided [RCV002690540] Chr5:151553237 [GRCh38]
Chr5:150932798 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.3115G>C (p.Gly1039Arg) single nucleotide variant not specified [RCV004108925] Chr5:151565817 [GRCh38]
Chr5:150945378 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.5205G>A (p.Met1735Ile) single nucleotide variant not specified [RCV004200646] Chr5:151545922 [GRCh38]
Chr5:150925483 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.5481G>A (p.Glu1827=) single nucleotide variant not provided [RCV003034864] Chr5:151545646 [GRCh38]
Chr5:150925207 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.10912C>T (p.Leu3638Phe) single nucleotide variant not provided [RCV002948220]|not specified [RCV004067316] Chr5:151521681 [GRCh38]
Chr5:150901242 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.631G>A (p.Val211Ile) single nucleotide variant not provided [RCV002623625]|not specified [RCV004070473] Chr5:151568301 [GRCh38]
Chr5:150947862 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.9174C>T (p.Phe3058=) single nucleotide variant not provided [RCV002618299] Chr5:151537812 [GRCh38]
Chr5:150917373 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.8561G>A (p.Ser2854Asn) single nucleotide variant not provided [RCV003111703]|not specified [RCV004152923] Chr5:151542566 [GRCh38]
Chr5:150922127 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.165C>T (p.Phe55=) single nucleotide variant not provided [RCV002972361] Chr5:151568767 [GRCh38]
Chr5:150948328 [GRCh37]
Chr5:5q33.1		 benign
NM_001447.3(FAT2):c.1103G>A (p.Arg368Lys) single nucleotide variant FAT2-related disorder [RCV003936331]|not provided [RCV002907797] Chr5:151567829 [GRCh38]
Chr5:150947390 [GRCh37]
Chr5:5q33.1		 benign
NM_001447.3(FAT2):c.7561A>G (p.Ile2521Val) single nucleotide variant not provided [RCV002991818] Chr5:151543566 [GRCh38]
Chr5:150923127 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.8920C>T (p.Arg2974Cys) single nucleotide variant not provided [RCV002616662]|not specified [RCV004070574] Chr5:151540686 [GRCh38]
Chr5:150920247 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.1750A>T (p.Met584Leu) single nucleotide variant not provided [RCV002995088] Chr5:151567182 [GRCh38]
Chr5:150946743 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.9701G>A (p.Gly3234Asp) single nucleotide variant not provided [RCV002512282] Chr5:151531697 [GRCh38]
Chr5:150911258 [GRCh37]
Chr5:5q33.1		 likely benign|conflicting interpretations of pathogenicity
NM_001447.3(FAT2):c.6437G>T (p.Arg2146Leu) single nucleotide variant not provided [RCV003073620] Chr5:151544690 [GRCh38]
Chr5:150924251 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.12902G>A (p.Arg4301His) single nucleotide variant not provided [RCV003095643]|not specified [RCV004073293] Chr5:151505713 [GRCh38]
Chr5:150885274 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.1746G>A (p.Ser582=) single nucleotide variant not provided [RCV002616814] Chr5:151567186 [GRCh38]
Chr5:150946747 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.203C>T (p.Ala68Val) single nucleotide variant not provided [RCV002903893]|not specified [RCV004066140] Chr5:151568729 [GRCh38]
Chr5:150948290 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.12784C>T (p.Arg4262Cys) single nucleotide variant not provided [RCV003015223] Chr5:151505831 [GRCh38]
Chr5:150885392 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.7463C>T (p.Ala2488Val) single nucleotide variant not provided [RCV002993621]|not specified [RCV004065184] Chr5:151543664 [GRCh38]
Chr5:150923225 [GRCh37]
Chr5:5q33.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_001447.3(FAT2):c.2845G>T (p.Ala949Ser) single nucleotide variant not provided [RCV002615215] Chr5:151566087 [GRCh38]
Chr5:150945648 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.10745C>T (p.Ala3582Val) single nucleotide variant not specified [RCV004171491] Chr5:151521848 [GRCh38]
Chr5:150901409 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.3748C>T (p.Arg1250Cys) single nucleotide variant not provided [RCV002614601] Chr5:151554559 [GRCh38]
Chr5:150934120 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.8771T>G (p.Leu2924Arg) single nucleotide variant not specified [RCV004106794] Chr5:151542356 [GRCh38]
Chr5:150921917 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.7954T>C (p.Leu2652=) single nucleotide variant FAT2-related disorder [RCV003973480]|not provided [RCV002775381] Chr5:151543173 [GRCh38]
Chr5:150922734 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.5208A>C (p.Ala1736=) single nucleotide variant not provided [RCV003097498] Chr5:151545919 [GRCh38]
Chr5:150925480 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.6149G>A (p.Arg2050Gln) single nucleotide variant not provided [RCV003095334] Chr5:151544978 [GRCh38]
Chr5:150924539 [GRCh37]
Chr5:5q33.1		 benign|likely benign
NM_001447.3(FAT2):c.3214C>T (p.Arg1072Cys) single nucleotide variant not provided [RCV002615408] Chr5:151565718 [GRCh38]
Chr5:150945279 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.5720T>C (p.Ile1907Thr) single nucleotide variant not provided [RCV002512284] Chr5:151545407 [GRCh38]
Chr5:150924968 [GRCh37]
Chr5:5q33.1		 benign|likely benign
NM_001447.3(FAT2):c.12170C>T (p.Ala4057Val) single nucleotide variant not specified [RCV004127086] Chr5:151507501 [GRCh38]
Chr5:150887062 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.12129C>T (p.Asp4043=) single nucleotide variant not provided [RCV003032515] Chr5:151507542 [GRCh38]
Chr5:150887103 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.8845G>C (p.Gly2949Arg) single nucleotide variant not specified [RCV004089363] Chr5:151540761 [GRCh38]
Chr5:150920322 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.10830C>A (p.Thr3610=) single nucleotide variant not provided [RCV002842144] Chr5:151521763 [GRCh38]
Chr5:150901324 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.922C>T (p.Arg308Trp) single nucleotide variant not provided [RCV002617526] Chr5:151568010 [GRCh38]
Chr5:150947571 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.6842T>C (p.Ile2281Thr) single nucleotide variant not provided [RCV002972426] Chr5:151544285 [GRCh38]
Chr5:150923846 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.2060T>A (p.Ile687Asn) single nucleotide variant not provided [RCV002614382] Chr5:151566872 [GRCh38]
Chr5:150946433 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.11906-13_11906-11del microsatellite not provided [RCV002770963] Chr5:151510185..151510187 [GRCh38]
Chr5:150889746..150889748 [GRCh37]
Chr5:5q33.1		 benign
NM_001447.3(FAT2):c.12682T>C (p.Phe4228Leu) single nucleotide variant not provided [RCV002756748]|not specified [RCV004064684] Chr5:151505933 [GRCh38]
Chr5:150885494 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.4157-14C>T single nucleotide variant not provided [RCV002776021] Chr5:151551620 [GRCh38]
Chr5:150931181 [GRCh37]
Chr5:5q33.1		 benign
NM_001447.3(FAT2):c.4355G>A (p.Arg1452His) single nucleotide variant not specified [RCV004133106] Chr5:151550813 [GRCh38]
Chr5:150930374 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.4523C>T (p.Thr1508Met) single nucleotide variant not provided [RCV002616627] Chr5:151550645 [GRCh38]
Chr5:150930206 [GRCh37]
Chr5:5q33.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_001447.3(FAT2):c.2366A>G (p.Asn789Ser) single nucleotide variant not specified [RCV004141902] Chr5:151566566 [GRCh38]
Chr5:150946127 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.2165T>C (p.Ile722Thr) single nucleotide variant not provided [RCV003011286]|not specified [RCV004068441] Chr5:151566767 [GRCh38]
Chr5:150946328 [GRCh37]
Chr5:5q33.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_001447.3(FAT2):c.12074C>T (p.Ala4025Val) single nucleotide variant not provided [RCV003075996]|not specified [RCV004071932] Chr5:151507597 [GRCh38]
Chr5:150887158 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.481A>C (p.Met161Leu) single nucleotide variant not specified [RCV004237797] Chr5:151568451 [GRCh38]
Chr5:150948012 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.7760C>T (p.Ala2587Val) single nucleotide variant not provided [RCV002975119]|not specified [RCV004068182] Chr5:151543367 [GRCh38]
Chr5:150922928 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.10742G>C (p.Gly3581Ala) single nucleotide variant not provided [RCV003016895] Chr5:151521851 [GRCh38]
Chr5:150901412 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.12323C>T (p.Ala4108Val) single nucleotide variant not specified [RCV004223793] Chr5:151507348 [GRCh38]
Chr5:150886909 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.6348C>T (p.Phe2116=) single nucleotide variant FAT2-related disorder [RCV003916581]|not provided [RCV002903000] Chr5:151544779 [GRCh38]
Chr5:150924340 [GRCh37]
Chr5:5q33.1		 benign
NM_001447.3(FAT2):c.10615A>G (p.Thr3539Ala) single nucleotide variant not provided [RCV003778623]|not specified [RCV004234096] Chr5:151521978 [GRCh38]
Chr5:150901539 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.7149A>G (p.Gln2383=) single nucleotide variant not provided [RCV002618463] Chr5:151543978 [GRCh38]
Chr5:150923539 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.10220A>G (p.His3407Arg) single nucleotide variant not provided [RCV002512281] Chr5:151527322 [GRCh38]
Chr5:150906883 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.11250G>A (p.Thr3750=) single nucleotide variant not provided [RCV002882205] Chr5:151521343 [GRCh38]
Chr5:150900904 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.10271C>T (p.Pro3424Leu) single nucleotide variant not specified [RCV004144158] Chr5:151527271 [GRCh38]
Chr5:150906832 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.10164+16G>A single nucleotide variant not provided [RCV002755094] Chr5:151527980 [GRCh38]
Chr5:150907541 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.11241T>C (p.Val3747=) single nucleotide variant not provided [RCV002908681] Chr5:151521352 [GRCh38]
Chr5:150900913 [GRCh37]
Chr5:5q33.1		 benign
NM_001447.3(FAT2):c.923G>A (p.Arg308Gln) single nucleotide variant not provided [RCV002972411] Chr5:151568009 [GRCh38]
Chr5:150947570 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.1666A>C (p.Asn556His) single nucleotide variant not provided [RCV002975394] Chr5:151567266 [GRCh38]
Chr5:150946827 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.6068C>A (p.Thr2023Lys) single nucleotide variant not specified [RCV004146844] Chr5:151545059 [GRCh38]
Chr5:150924620 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.12816G>A (p.Thr4272=) single nucleotide variant not provided [RCV002681502] Chr5:151505799 [GRCh38]
Chr5:150885360 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.5477C>T (p.Ser1826Leu) single nucleotide variant not provided [RCV002947160]|not specified [RCV004067062] Chr5:151545650 [GRCh38]
Chr5:150925211 [GRCh37]
Chr5:5q33.1		 benign|likely benign|uncertain significance
NM_001447.3(FAT2):c.12626G>A (p.Arg4209His) single nucleotide variant not specified [RCV004234929] Chr5:151505989 [GRCh38]
Chr5:150885550 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.9524T>C (p.Leu3175Pro) single nucleotide variant not provided [RCV002640497]|not specified [RCV004070830] Chr5:151531874 [GRCh38]
Chr5:150911435 [GRCh37]
Chr5:5q33.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_001447.3(FAT2):c.4640A>T (p.Asp1547Val) single nucleotide variant not provided [RCV002953548] Chr5:151549444 [GRCh38]
Chr5:150929005 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.7384C>T (p.Arg2462Ter) single nucleotide variant not provided [RCV003018144] Chr5:151543743 [GRCh38]
Chr5:150923304 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.1849G>A (p.Gly617Arg) single nucleotide variant not provided [RCV002620003] Chr5:151567083 [GRCh38]
Chr5:150946644 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.12910C>T (p.Arg4304Ter) single nucleotide variant not provided [RCV002706525] Chr5:151505705 [GRCh38]
Chr5:150885266 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.11375G>A (p.Arg3792Gln) single nucleotide variant not provided [RCV002953546]|not specified [RCV004068028] Chr5:151517708 [GRCh38]
Chr5:150897269 [GRCh37]
Chr5:5q33.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001447.3(FAT2):c.1241T>G (p.Leu414Trp) single nucleotide variant not provided [RCV002640371]|not specified [RCV004070821] Chr5:151567691 [GRCh38]
Chr5:150947252 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.5260A>G (p.Asn1754Asp) single nucleotide variant not specified [RCV004196180] Chr5:151545867 [GRCh38]
Chr5:150925428 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.1742A>G (p.Lys581Arg) single nucleotide variant not provided [RCV003100250] Chr5:151567190 [GRCh38]
Chr5:150946751 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.12625C>T (p.Arg4209Cys) single nucleotide variant not provided [RCV002886668] Chr5:151505990 [GRCh38]
Chr5:150885551 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.4960G>C (p.Asp1654His) single nucleotide variant not provided [RCV002953558] Chr5:151546167 [GRCh38]
Chr5:150925728 [GRCh37]
Chr5:5q33.1		 benign
NM_001447.3(FAT2):c.12448C>A (p.Pro4150Thr) single nucleotide variant not provided [RCV002593238] Chr5:151507223 [GRCh38]
Chr5:150886784 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.12334A>G (p.Asn4112Asp) single nucleotide variant FAT2-related disorder [RCV003936438]|not provided [RCV002953254] Chr5:151507337 [GRCh38]
Chr5:150886898 [GRCh37]
Chr5:5q33.1		 benign
NM_001447.3(FAT2):c.6907C>T (p.Arg2303Trp) single nucleotide variant not provided [RCV003100264] Chr5:151544220 [GRCh38]
Chr5:150923781 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.10126G>T (p.Gly3376Trp) single nucleotide variant not provided [RCV002926916]|not specified [RCV004066218] Chr5:151528034 [GRCh38]
Chr5:150907595 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.12320G>A (p.Ser4107Asn) single nucleotide variant not provided [RCV002948895]|not specified [RCV004068076] Chr5:151507351 [GRCh38]
Chr5:150886912 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.4819G>A (p.Ala1607Thr) single nucleotide variant not provided [RCV002696298] Chr5:151546308 [GRCh38]
Chr5:150925869 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.9194-6G>A single nucleotide variant not provided [RCV003081605] Chr5:151534648 [GRCh38]
Chr5:150914209 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.10444T>A (p.Trp3482Arg) single nucleotide variant not specified [RCV004141901] Chr5:151525830 [GRCh38]
Chr5:150905391 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.4446C>T (p.Ile1482=) single nucleotide variant not provided [RCV002825276] Chr5:151550722 [GRCh38]
Chr5:150930283 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.10987C>T (p.Arg3663Trp) single nucleotide variant not provided [RCV002889390] Chr5:151521606 [GRCh38]
Chr5:150901167 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.8153C>A (p.Ala2718Asp) single nucleotide variant not provided [RCV002785701] Chr5:151542974 [GRCh38]
Chr5:150922535 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.10389G>A (p.Ser3463=) single nucleotide variant not provided [RCV002953357] Chr5:151525885 [GRCh38]
Chr5:150905446 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.3106G>A (p.Val1036Met) single nucleotide variant not provided [RCV002953367] Chr5:151565826 [GRCh38]
Chr5:150945387 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.2663G>A (p.Arg888Gln) single nucleotide variant FAT2-related disorder [RCV003973577]|not provided [RCV002953424]|not specified [RCV004068018] Chr5:151566269 [GRCh38]
Chr5:150945830 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.10309-8G>A single nucleotide variant not provided [RCV003003214] Chr5:151525973 [GRCh38]
Chr5:150905534 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.567A>C (p.Thr189=) single nucleotide variant not provided [RCV002926619] Chr5:151568365 [GRCh38]
Chr5:150947926 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.3846T>C (p.Ser1282=) single nucleotide variant not provided [RCV002948571] Chr5:151554461 [GRCh38]
Chr5:150934022 [GRCh37]
Chr5:5q33.1		 benign
NM_001447.3(FAT2):c.153T>C (p.Tyr51=) single nucleotide variant not provided [RCV002569745] Chr5:151568779 [GRCh38]
Chr5:150948340 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.3793A>C (p.Arg1265=) single nucleotide variant not provided [RCV002979087] Chr5:151554514 [GRCh38]
Chr5:150934075 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.5023G>C (p.Val1675Leu) single nucleotide variant not specified [RCV004142763] Chr5:151546104 [GRCh38]
Chr5:150925665 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.2326G>A (p.Ala776Thr) single nucleotide variant not specified [RCV004122711] Chr5:151566606 [GRCh38]
Chr5:150946167 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.3056T>G (p.Ile1019Ser) single nucleotide variant not provided [RCV002638329] Chr5:151565876 [GRCh38]
Chr5:150945437 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.11845G>A (p.Asp3949Asn) single nucleotide variant not provided [RCV002637673]|not specified [RCV004070789] Chr5:151512225 [GRCh38]
Chr5:150891786 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.1398C>T (p.Thr466=) single nucleotide variant not provided [RCV002885020] Chr5:151567534 [GRCh38]
Chr5:150947095 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.1277G>A (p.Arg426Lys) single nucleotide variant not provided [RCV002948858]|not specified [RCV003403978] Chr5:151567655 [GRCh38]
Chr5:150947216 [GRCh37]
Chr5:5q33.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_001447.3(FAT2):c.8921G>A (p.Arg2974His) single nucleotide variant not provided [RCV002638375] Chr5:151540685 [GRCh38]
Chr5:150920246 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.12299C>A (p.Ala4100Asp) single nucleotide variant not provided [RCV003561103]|not specified [RCV004130527] Chr5:151507372 [GRCh38]
Chr5:150886933 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.4579-15C>G single nucleotide variant not provided [RCV002569951] Chr5:151549520 [GRCh38]
Chr5:150929081 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.7527T>C (p.Asp2509=) single nucleotide variant FAT2-related disorder [RCV003936613]|not provided [RCV002637261] Chr5:151543600 [GRCh38]
Chr5:150923161 [GRCh37]
Chr5:5q33.1		 benign|likely benign
NM_001447.3(FAT2):c.2263G>T (p.Ala755Ser) single nucleotide variant not provided [RCV002948953]|not specified [RCV004068079] Chr5:151566669 [GRCh38]
Chr5:150946230 [GRCh37]
Chr5:5q33.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_001447.3(FAT2):c.594C>G (p.Pro198=) single nucleotide variant not provided [RCV002638412] Chr5:151568338 [GRCh38]
Chr5:150947899 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.2567G>A (p.Arg856His) single nucleotide variant not provided [RCV002621358] Chr5:151566365 [GRCh38]
Chr5:150945926 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.8608A>G (p.Thr2870Ala) single nucleotide variant FAT2-related disorder [RCV003936443]|Spinocerebellar ataxia 45 [RCV003994476]|not provided [RCV002923956] Chr5:151542519 [GRCh38]
Chr5:150922080 [GRCh37]
Chr5:5q33.1		 benign|likely benign
NM_001447.3(FAT2):c.12212G>A (p.Arg4071His) single nucleotide variant not provided [RCV002621230] Chr5:151507459 [GRCh38]
Chr5:150887020 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.10676A>T (p.Asp3559Val) single nucleotide variant not provided [RCV002886114] Chr5:151521917 [GRCh38]
Chr5:150901478 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.9738G>A (p.Pro3246=) single nucleotide variant not provided [RCV002618960] Chr5:151531660 [GRCh38]
Chr5:150911221 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.2333T>C (p.Leu778Ser) single nucleotide variant not specified [RCV004111464] Chr5:151566599 [GRCh38]
Chr5:150946160 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.12958G>A (p.Ala4320Thr) single nucleotide variant not specified [RCV004119461] Chr5:151505657 [GRCh38]
Chr5:150885218 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.8576C>T (p.Thr2859Ile) single nucleotide variant not specified [RCV004153647] Chr5:151542551 [GRCh38]
Chr5:150922112 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.8210A>C (p.Asp2737Ala) single nucleotide variant not specified [RCV004133985] Chr5:151542917 [GRCh38]
Chr5:150922478 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.2218A>T (p.Thr740Ser) single nucleotide variant not specified [RCV004242230] Chr5:151566714 [GRCh38]
Chr5:150946275 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.10506+17G>T single nucleotide variant not provided [RCV002591137] Chr5:151525751 [GRCh38]
Chr5:150905312 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.645A>G (p.Gly215=) single nucleotide variant not provided [RCV002913893] Chr5:151568287 [GRCh38]
Chr5:150947848 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.2472G>A (p.Gly824=) single nucleotide variant not provided [RCV002913328] Chr5:151566460 [GRCh38]
Chr5:150946021 [GRCh37]
Chr5:5q33.1		 benign
NM_001447.3(FAT2):c.8451T>G (p.Ile2817Met) single nucleotide variant not provided [RCV002926609] Chr5:151542676 [GRCh38]
Chr5:150922237 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.12933_12936del (p.Cys4312fs) microsatellite not specified [RCV002510300] Chr5:151505679..151505682 [GRCh38]
Chr5:150885240..150885243 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.4070C>T (p.Thr1357Met) single nucleotide variant not specified [RCV004234168] Chr5:151553263 [GRCh38]
Chr5:150932824 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.3232G>A (p.Ala1078Thr) single nucleotide variant not provided [RCV003081244] Chr5:151565700 [GRCh38]
Chr5:150945261 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.8637C>T (p.Asp2879=) single nucleotide variant not provided [RCV002948570] Chr5:151542490 [GRCh38]
Chr5:150922051 [GRCh37]
Chr5:5q33.1		 benign
NM_001447.3(FAT2):c.683G>A (p.Arg228Gln) single nucleotide variant not provided [RCV002979078] Chr5:151568249 [GRCh38]
Chr5:150947810 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.12790G>A (p.Val4264Ile) single nucleotide variant not specified [RCV004187602] Chr5:151505825 [GRCh38]
Chr5:150885386 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.6521C>T (p.Pro2174Leu) single nucleotide variant not provided [RCV002592777]|not specified [RCV004700780] Chr5:151544606 [GRCh38]
Chr5:150924167 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.6137G>A (p.Arg2046Gln) single nucleotide variant not provided [RCV002999508] Chr5:151544990 [GRCh38]
Chr5:150924551 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.7193T>G (p.Val2398Gly) single nucleotide variant not specified [RCV004130528] Chr5:151543934 [GRCh38]
Chr5:150923495 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.6254C>T (p.Pro2085Leu) single nucleotide variant not specified [RCV004172144] Chr5:151544873 [GRCh38]
Chr5:150924434 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.4916A>G (p.Gln1639Arg) single nucleotide variant not specified [RCV004171631] Chr5:151546211 [GRCh38]
Chr5:150925772 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.7757A>G (p.Lys2586Arg) single nucleotide variant not provided [RCV002638365]|not specified [RCV004072054] Chr5:151543370 [GRCh38]
Chr5:150922931 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.8922C>T (p.Arg2974=) single nucleotide variant not provided [RCV002735018] Chr5:151540684 [GRCh38]
Chr5:150920245 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.10768G>A (p.Ala3590Thr) single nucleotide variant not provided [RCV002909579] Chr5:151521825 [GRCh38]
Chr5:150901386 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.12777C>G (p.Pro4259=) single nucleotide variant not provided [RCV003002455] Chr5:151505838 [GRCh38]
Chr5:150885399 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.9610G>A (p.Val3204Ile) single nucleotide variant not provided [RCV002756761]|not specified [RCV004064686] Chr5:151531788 [GRCh38]
Chr5:150911349 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.9572A>G (p.Asp3191Gly) single nucleotide variant not provided [RCV003079343] Chr5:151531826 [GRCh38]
Chr5:150911387 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.3974C>T (p.Pro1325Leu) single nucleotide variant not specified [RCV004240571] Chr5:151553359 [GRCh38]
Chr5:150932920 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.675C>A (p.Asp225Glu) single nucleotide variant not provided [RCV002998666] Chr5:151568257 [GRCh38]
Chr5:150947818 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.4868A>G (p.His1623Arg) single nucleotide variant FAT2-related disorder [RCV003926558]|not provided [RCV002952438] Chr5:151546259 [GRCh38]
Chr5:150925820 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.2876A>G (p.Glu959Gly) single nucleotide variant not provided [RCV002913113] Chr5:151566056 [GRCh38]
Chr5:150945617 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.6974A>G (p.Asn2325Ser) single nucleotide variant not provided [RCV002948421]|not specified [RCV004067985] Chr5:151544153 [GRCh38]
Chr5:150923714 [GRCh37]
Chr5:5q33.1		 benign|likely benign|uncertain significance
NM_001447.3(FAT2):c.3067G>A (p.Val1023Met) single nucleotide variant not provided [RCV003019154] Chr5:151565865 [GRCh38]
Chr5:150945426 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.3028C>T (p.Arg1010Cys) single nucleotide variant FAT2-related disorder [RCV003926481]|not provided [RCV002913305] Chr5:151565904 [GRCh38]
Chr5:150945465 [GRCh37]
Chr5:5q33.1		 benign|likely benign
NM_001447.3(FAT2):c.4426G>A (p.Asp1476Asn) single nucleotide variant not provided [RCV003038328] Chr5:151550742 [GRCh38]
Chr5:150930303 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.3141G>A (p.Ser1047=) single nucleotide variant not provided [RCV002913327] Chr5:151565791 [GRCh38]
Chr5:150945352 [GRCh37]
Chr5:5q33.1		 benign
NM_001447.3(FAT2):c.2464C>T (p.Pro822Ser) single nucleotide variant not provided [RCV002913329] Chr5:151566468 [GRCh38]
Chr5:150946029 [GRCh37]
Chr5:5q33.1		 benign
NM_001447.3(FAT2):c.8147T>C (p.Val2716Ala) single nucleotide variant not provided [RCV002620370]|not specified [RCV003479481] Chr5:151542980 [GRCh38]
Chr5:150922541 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.7385G>A (p.Arg2462Gln) single nucleotide variant not provided [RCV003001954] Chr5:151543742 [GRCh38]
Chr5:150923303 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.1787A>G (p.Asn596Ser) single nucleotide variant not provided [RCV003002148] Chr5:151567145 [GRCh38]
Chr5:150946706 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.446C>T (p.Ser149Phe) single nucleotide variant not provided [RCV002590685] Chr5:151568486 [GRCh38]
Chr5:150948047 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.8814G>C (p.Gln2938His) single nucleotide variant not provided [RCV003080356]|not specified [RCV004617194] Chr5:151542313 [GRCh38]
Chr5:150921874 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.7243G>C (p.Glu2415Gln) single nucleotide variant not provided [RCV003080572]|not specified [RCV004073277] Chr5:151543884 [GRCh38]
Chr5:150923445 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.2936G>C (p.Gly979Ala) single nucleotide variant not specified [RCV004225763] Chr5:151565996 [GRCh38]
Chr5:150945557 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.3437T>C (p.Ile1146Thr) single nucleotide variant not provided [RCV002636783] Chr5:151563462 [GRCh38]
Chr5:150943023 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.6093G>A (p.Glu2031=) single nucleotide variant FAT2-related disorder [RCV003961189]|not provided [RCV002926692] Chr5:151545034 [GRCh38]
Chr5:150924595 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.12969C>G (p.Gly4323=) single nucleotide variant not provided [RCV002999424] Chr5:151505646 [GRCh38]
Chr5:150885207 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.3875G>A (p.Ser1292Asn) single nucleotide variant not specified [RCV004131397] Chr5:151554432 [GRCh38]
Chr5:150933993 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.2652del (p.Glu884fs) deletion not provided [RCV003038239] Chr5:151566280 [GRCh38]
Chr5:150945841 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.13003G>A (p.Asp4335Asn) single nucleotide variant not specified [RCV004154446] Chr5:151505612 [GRCh38]
Chr5:150885173 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.12228C>T (p.His4076=) single nucleotide variant not provided [RCV002639796] Chr5:151507443 [GRCh38]
Chr5:150887004 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.4795A>G (p.Ser1599Gly) single nucleotide variant FAT2-related disorder [RCV003906573]|not specified [RCV004082567] Chr5:151546332 [GRCh38]
Chr5:150925893 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.4390G>T (p.Gly1464Trp) single nucleotide variant not provided [RCV002706730] Chr5:151550778 [GRCh38]
Chr5:150930339 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.4065C>A (p.Ser1355Arg) single nucleotide variant not provided [RCV002979183]|not specified [RCV004065113] Chr5:151553268 [GRCh38]
Chr5:150932829 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.1140C>T (p.Arg380=) single nucleotide variant not provided [RCV002979862] Chr5:151567792 [GRCh38]
Chr5:150947353 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.2743T>G (p.Leu915Val) single nucleotide variant not provided [RCV003720746]|not specified [RCV004226235] Chr5:151566189 [GRCh38]
Chr5:150945750 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.12015C>A (p.Pro4005=) single nucleotide variant not provided [RCV002705245] Chr5:151510065 [GRCh38]
Chr5:150889626 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.1273G>A (p.Asp425Asn) single nucleotide variant not provided [RCV002913114] Chr5:151567659 [GRCh38]
Chr5:150947220 [GRCh37]
Chr5:5q33.1		 benign
NM_001447.3(FAT2):c.993C>T (p.Leu331=) single nucleotide variant not provided [RCV002913115] Chr5:151567939 [GRCh38]
Chr5:150947500 [GRCh37]
Chr5:5q33.1		 benign
NM_001447.3(FAT2):c.789A>G (p.Pro263=) single nucleotide variant not provided [RCV002913116] Chr5:151568143 [GRCh38]
Chr5:150947704 [GRCh37]
Chr5:5q33.1		 benign
NM_001447.3(FAT2):c.12413G>A (p.Arg4138Gln) single nucleotide variant not provided [RCV002638151] Chr5:151507258 [GRCh38]
Chr5:150886819 [GRCh37]
Chr5:5q33.1		 benign
NM_001447.3(FAT2):c.8977G>C (p.Ala2993Pro) single nucleotide variant not specified [RCV004133359] Chr5:151540629 [GRCh38]
Chr5:150920190 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.7064G>A (p.Gly2355Glu) single nucleotide variant not provided [RCV002666821] Chr5:151544063 [GRCh38]
Chr5:150923624 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.12517+19G>A single nucleotide variant not provided [RCV002790841] Chr5:151507135 [GRCh38]
Chr5:150886696 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.12163G>A (p.Ala4055Thr) single nucleotide variant not provided [RCV003730340]|not specified [RCV004203533] Chr5:151507508 [GRCh38]
Chr5:150887069 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.8099C>T (p.Ala2700Val) single nucleotide variant not provided [RCV002595526] Chr5:151543028 [GRCh38]
Chr5:150922589 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.2059A>G (p.Ile687Val) single nucleotide variant not provided [RCV002957865]|not specified [RCV004617124] Chr5:151566873 [GRCh38]
Chr5:150946434 [GRCh37]
Chr5:5q33.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001447.3(FAT2):c.630C>T (p.Asn210=) single nucleotide variant not provided [RCV002626660] Chr5:151568302 [GRCh38]
Chr5:150947863 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.6476T>C (p.Val2159Ala) single nucleotide variant not provided [RCV002623514] Chr5:151544651 [GRCh38]
Chr5:150924212 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.12618G>A (p.Ser4206=) single nucleotide variant not provided [RCV002596671] Chr5:151505997 [GRCh38]
Chr5:150885558 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.3475C>A (p.Leu1159Met) single nucleotide variant not provided [RCV002894920] Chr5:151563424 [GRCh38]
Chr5:150942985 [GRCh37]
Chr5:5q33.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_001447.3(FAT2):c.4406G>A (p.Arg1469Gln) single nucleotide variant not provided [RCV003085309]|not specified [RCV004071730] Chr5:151550762 [GRCh38]
Chr5:150930323 [GRCh37]
Chr5:5q33.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_001447.3(FAT2):c.5810G>A (p.Arg1937Gln) single nucleotide variant not provided [RCV003565605]|not specified [RCV004204524] Chr5:151545317 [GRCh38]
Chr5:150924878 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.10272G>A (p.Pro3424=) single nucleotide variant not provided [RCV002710380] Chr5:151527270 [GRCh38]
Chr5:150906831 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.12517+18C>T single nucleotide variant not provided [RCV002575313] Chr5:151507136 [GRCh38]
Chr5:150886697 [GRCh37]
Chr5:5q33.1		 benign
NM_001447.3(FAT2):c.11550C>T (p.His3850=) single nucleotide variant not provided [RCV002644196] Chr5:151512520 [GRCh38]
Chr5:150892081 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.1331T>C (p.Val444Ala) single nucleotide variant not provided [RCV002895026] Chr5:151567601 [GRCh38]
Chr5:150947162 [GRCh37]
Chr5:5q33.1		 benign
NM_001447.3(FAT2):c.3859G>C (p.Asp1287His) single nucleotide variant not provided [RCV002933333] Chr5:151554448 [GRCh38]
Chr5:150934009 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.8111T>G (p.Leu2704Arg) single nucleotide variant not provided [RCV002958080] Chr5:151543016 [GRCh38]
Chr5:150922577 [GRCh37]
Chr5:5q33.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_001447.3(FAT2):c.47C>T (p.Ala16Val) single nucleotide variant not provided [RCV002933006]|not specified [RCV004067052] Chr5:151568885 [GRCh38]
Chr5:150948446 [GRCh37]
Chr5:5q33.1		 likely benign|uncertain significance
NM_001447.3(FAT2):c.2310G>A (p.Gly770=) single nucleotide variant not provided [RCV002710149] Chr5:151566622 [GRCh38]
Chr5:150946183 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.2134C>T (p.Pro712Ser) single nucleotide variant not provided [RCV002933029] Chr5:151566798 [GRCh38]
Chr5:150946359 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.12060-15_12060-14insATT insertion not provided [RCV002805697] Chr5:151507625..151507626 [GRCh38]
Chr5:150887186..150887187 [GRCh37]
Chr5:5q33.1		 benign
NM_001447.3(FAT2):c.1414C>T (p.Pro472Ser) single nucleotide variant not provided [RCV002932541]|not specified [RCV004066323] Chr5:151567518 [GRCh38]
Chr5:150947079 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.2841G>A (p.Leu947=) single nucleotide variant not provided [RCV002667999] Chr5:151566091 [GRCh38]
Chr5:150945652 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.10616C>T (p.Thr3539Ile) single nucleotide variant not provided [RCV002958952]|not specified [RCV004068218] Chr5:151521977 [GRCh38]
Chr5:150901538 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.5327T>C (p.Met1776Thr) single nucleotide variant not specified [RCV004163527] Chr5:151545800 [GRCh38]
Chr5:150925361 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.7308T>C (p.Ile2436=) single nucleotide variant not provided [RCV002895025] Chr5:151543819 [GRCh38]
Chr5:150923380 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.4116C>T (p.Ser1372=) single nucleotide variant not provided [RCV002982633] Chr5:151553217 [GRCh38]
Chr5:150932778 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.12460C>A (p.Pro4154Thr) single nucleotide variant not provided [RCV002574129]|not specified [RCV004064370] Chr5:151507211 [GRCh38]
Chr5:150886772 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.4797C>T (p.Ser1599=) single nucleotide variant not provided [RCV002928799] Chr5:151546330 [GRCh38]
Chr5:150925891 [GRCh37]
Chr5:5q33.1		 benign
NM_001447.3(FAT2):c.2196C>T (p.Thr732=) single nucleotide variant not provided [RCV002643862] Chr5:151566736 [GRCh38]
Chr5:150946297 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.2968G>A (p.Glu990Lys) single nucleotide variant not provided [RCV002914637] Chr5:151565964 [GRCh38]
Chr5:150945525 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.3533G>C (p.Ser1178Thr) single nucleotide variant not provided [RCV003708700]|not specified [RCV004121538] Chr5:151563366 [GRCh38]
Chr5:150942927 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.12764G>A (p.Arg4255Gln) single nucleotide variant not provided [RCV002625086]|not specified [RCV004072006] Chr5:151505851 [GRCh38]
Chr5:150885412 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.9434A>G (p.Asn3145Ser) single nucleotide variant not provided [RCV003434680]|not specified [RCV004232672] Chr5:151531964 [GRCh38]
Chr5:150911525 [GRCh37]
Chr5:5q33.1		 likely benign|uncertain significance
NM_001447.3(FAT2):c.4750C>T (p.Arg1584Trp) single nucleotide variant not provided [RCV003434611]|not specified [RCV004101955] Chr5:151549334 [GRCh38]
Chr5:150928895 [GRCh37]
Chr5:5q33.1		 likely benign|uncertain significance
NM_001447.3(FAT2):c.9788_9789delinsAT (p.Arg3263Asn) indel not provided [RCV003005639] Chr5:151531609..151531610 [GRCh38]
Chr5:150911170..150911171 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.5267C>T (p.Pro1756Leu) single nucleotide variant not specified [RCV004154699] Chr5:151545860 [GRCh38]
Chr5:150925421 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.4798G>A (p.Glu1600Lys) single nucleotide variant not provided [RCV002643728]|not specified [RCV004070628] Chr5:151546329 [GRCh38]
Chr5:150925890 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.1616G>A (p.Gly539Glu) single nucleotide variant not specified [RCV004144452] Chr5:151567316 [GRCh38]
Chr5:150946877 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.11369C>T (p.Ala3790Val) single nucleotide variant not provided [RCV002786677] Chr5:151517714 [GRCh38]
Chr5:150897275 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.1235C>T (p.Thr412Ile) single nucleotide variant not provided [RCV003084359]|not specified [RCV004073128] Chr5:151567697 [GRCh38]
Chr5:150947258 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.5683C>T (p.Arg1895Trp) single nucleotide variant not provided [RCV002890753] Chr5:151545444 [GRCh38]
Chr5:150925005 [GRCh37]
Chr5:5q33.1		 benign
NM_001447.3(FAT2):c.3319G>A (p.Val1107Ile) single nucleotide variant not specified [RCV004138459] Chr5:151563580 [GRCh38]
Chr5:150943141 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.2533A>G (p.Lys845Glu) single nucleotide variant not provided [RCV003025841] Chr5:151566399 [GRCh38]
Chr5:150945960 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.5629T>C (p.Tyr1877His) single nucleotide variant not provided [RCV002953953]|not specified [RCV003331408] Chr5:151545498 [GRCh38]
Chr5:150925059 [GRCh37]
Chr5:5q33.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_001447.3(FAT2):c.1880A>G (p.Asn627Ser) single nucleotide variant FAT2-related disorder [RCV003906315]|not provided [RCV002932237] Chr5:151567052 [GRCh38]
Chr5:150946613 [GRCh37]
Chr5:5q33.1		 benign|likely benign
NM_001447.3(FAT2):c.7350C>T (p.Tyr2450=) single nucleotide variant not provided [RCV002890825] Chr5:151543777 [GRCh38]
Chr5:150923338 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.12725G>A (p.Arg4242His) single nucleotide variant not provided [RCV002928597] Chr5:151505890 [GRCh38]
Chr5:150885451 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.2940G>C (p.Ala980=) single nucleotide variant not provided [RCV002982634] Chr5:151565992 [GRCh38]
Chr5:150945553 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.11452G>A (p.Val3818Ile) single nucleotide variant not provided [RCV002596352]|not specified [RCV004069073] Chr5:151517631 [GRCh38]
Chr5:150897192 [GRCh37]
Chr5:5q33.1		 likely benign|uncertain significance
NM_001447.3(FAT2):c.5027G>A (p.Gly1676Asp) single nucleotide variant not specified [RCV004143774] Chr5:151546100 [GRCh38]
Chr5:150925661 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.2530A>G (p.Thr844Ala) single nucleotide variant not provided [RCV003548934]|not specified [RCV004207493] Chr5:151566402 [GRCh38]
Chr5:150945963 [GRCh37]
Chr5:5q33.1		 likely benign|uncertain significance
NM_001447.3(FAT2):c.12491A>G (p.Lys4164Arg) single nucleotide variant not provided [RCV002710776] Chr5:151507180 [GRCh38]
Chr5:150886741 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.3574+6G>T single nucleotide variant not provided [RCV003024291] Chr5:151563319 [GRCh38]
Chr5:150942880 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.6080C>T (p.Ala2027Val) single nucleotide variant not provided [RCV002957456] Chr5:151545047 [GRCh38]
Chr5:150924608 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.5449C>T (p.Pro1817Ser) single nucleotide variant not specified [RCV004245791] Chr5:151545678 [GRCh38]
Chr5:150925239 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.1863C>T (p.Leu621=) single nucleotide variant not provided [RCV002829921] Chr5:151567069 [GRCh38]
Chr5:150946630 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.9705G>A (p.Thr3235=) single nucleotide variant not provided [RCV002786446] Chr5:151531693 [GRCh38]
Chr5:150911254 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.8183G>A (p.Arg2728Gln) single nucleotide variant FAT2-related disorder [RCV003961278]|not provided [RCV002958213]|not specified [RCV004068043] Chr5:151542944 [GRCh38]
Chr5:150922505 [GRCh37]
Chr5:5q33.1		 likely benign|uncertain significance
NM_001447.3(FAT2):c.11391T>C (p.His3797=) single nucleotide variant not provided [RCV002574425] Chr5:151517692 [GRCh38]
Chr5:150897253 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.11551G>A (p.Glu3851Lys) single nucleotide variant not provided [RCV002957306]|not specified [RCV004067199] Chr5:151512519 [GRCh38]
Chr5:150892080 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.10689G>A (p.Thr3563=) single nucleotide variant not provided [RCV002918870] Chr5:151521904 [GRCh38]
Chr5:150901465 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.8945T>C (p.Leu2982Pro) single nucleotide variant not specified [RCV004170690] Chr5:151540661 [GRCh38]
Chr5:150920222 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.8129T>C (p.Ile2710Thr) single nucleotide variant not provided [RCV002710662] Chr5:151542998 [GRCh38]
Chr5:150922559 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.2943C>T (p.Leu981=) single nucleotide variant not provided [RCV002786274] Chr5:151565989 [GRCh38]
Chr5:150945550 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.11877T>C (p.Gly3959=) single nucleotide variant not provided [RCV002853258] Chr5:151512193 [GRCh38]
Chr5:150891754 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.12913G>A (p.Ala4305Thr) single nucleotide variant not provided [RCV002852846]|not specified [RCV004064986] Chr5:151505702 [GRCh38]
Chr5:150885263 [GRCh37]
Chr5:5q33.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_001447.3(FAT2):c.2132C>T (p.Thr711Ile) single nucleotide variant not provided [RCV002790272] Chr5:151566800 [GRCh38]
Chr5:150946361 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.3384G>T (p.Thr1128=) single nucleotide variant not provided [RCV002918812] Chr5:151563515 [GRCh38]
Chr5:150943076 [GRCh37]
Chr5:5q33.1		 benign|likely benign
NM_001447.3(FAT2):c.3960C>G (p.Asp1320Glu) single nucleotide variant not provided [RCV002644284] Chr5:151553373 [GRCh38]
Chr5:150932934 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.9216C>T (p.Ala3072=) single nucleotide variant not provided [RCV002914775] Chr5:151534620 [GRCh38]
Chr5:150914181 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.12911G>A (p.Arg4304Gln) single nucleotide variant not provided [RCV002786431] Chr5:151505704 [GRCh38]
Chr5:150885265 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.5265T>C (p.Ala1755=) single nucleotide variant not provided [RCV002801936] Chr5:151545862 [GRCh38]
Chr5:150925423 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.8116G>C (p.Glu2706Gln) single nucleotide variant not provided [RCV002985669] Chr5:151543011 [GRCh38]
Chr5:150922572 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.5512T>C (p.Phe1838Leu) single nucleotide variant FAT2-related disorder [RCV003946395]|not provided [RCV003575016]|not specified [RCV004202613] Chr5:151545615 [GRCh38]
Chr5:150925176 [GRCh37]
Chr5:5q33.1		 likely benign|uncertain significance
NM_001447.3(FAT2):c.6601C>T (p.Leu2201Phe) single nucleotide variant FAT2-related disorder [RCV003936617]|not provided [RCV002624625] Chr5:151544526 [GRCh38]
Chr5:150924087 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.9542C>T (p.Ala3181Val) single nucleotide variant not provided [RCV003005423]|not specified [RCV004068497] Chr5:151531856 [GRCh38]
Chr5:150911417 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.3659C>A (p.Pro1220His) single nucleotide variant not provided [RCV002917804] Chr5:151554648 [GRCh38]
Chr5:150934209 [GRCh37]
Chr5:5q33.1		 benign
NM_001447.3(FAT2):c.4579-15C>T single nucleotide variant not provided [RCV002790361] Chr5:151549520 [GRCh38]
Chr5:150929081 [GRCh37]
Chr5:5q33.1		 benign
NM_001447.3(FAT2):c.4948G>A (p.Val1650Ile) single nucleotide variant not provided [RCV003007306]|not specified [RCV004068367] Chr5:151546179 [GRCh38]
Chr5:150925740 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.12218G>C (p.Cys4073Ser) single nucleotide variant not provided [RCV002700662] Chr5:151507453 [GRCh38]
Chr5:150887014 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.10015G>A (p.Val3339Ile) single nucleotide variant FAT2-related disorder [RCV003961246]|not provided [RCV002928598] Chr5:151529189 [GRCh38]
Chr5:150908750 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.8138T>C (p.Val2713Ala) single nucleotide variant not provided [RCV003040569] Chr5:151542989 [GRCh38]
Chr5:150922550 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.5544_5545inv (p.Val1849Ile) inversion not provided [RCV003082274] Chr5:151545582..151545583 [GRCh38]
Chr5:150925143..150925144 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.11155C>T (p.Arg3719Trp) single nucleotide variant not provided [RCV002982401] Chr5:151521438 [GRCh38]
Chr5:150900999 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.5420C>T (p.Pro1807Leu) single nucleotide variant not provided [RCV002917351]|not specified [RCV004066070] Chr5:151545707 [GRCh38]
Chr5:150925268 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.8101C>T (p.Pro2701Ser) single nucleotide variant not provided [RCV003042515] Chr5:151543026 [GRCh38]
Chr5:150922587 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.9880A>T (p.Ser3294Cys) single nucleotide variant not specified [RCV004129591] Chr5:151529324 [GRCh38]
Chr5:150908885 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.12854G>C (p.Gly4285Ala) single nucleotide variant FAT2-related disorder [RCV003943808]|not provided [RCV003087204] Chr5:151505761 [GRCh38]
Chr5:150885322 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.10971T>C (p.His3657=) single nucleotide variant not provided [RCV003089996] Chr5:151521622 [GRCh38]
Chr5:150901183 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.3944C>T (p.Thr1315Met) single nucleotide variant not provided [RCV003883935]|not specified [RCV004214587] Chr5:151554363 [GRCh38]
Chr5:150933924 [GRCh37]
Chr5:5q33.1		 likely benign|uncertain significance
NM_001447.3(FAT2):c.5855C>T (p.Ala1952Val) single nucleotide variant not specified [RCV004154792] Chr5:151545272 [GRCh38]
Chr5:150924833 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.2395C>A (p.Gln799Lys) single nucleotide variant not provided [RCV002602680] Chr5:151566537 [GRCh38]
Chr5:150946098 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.8707G>C (p.Ala2903Pro) single nucleotide variant FAT2-related disorder [RCV003926562]|not provided [RCV002933784] Chr5:151542420 [GRCh38]
Chr5:150921981 [GRCh37]
Chr5:5q33.1		 benign|likely benign
NM_001447.3(FAT2):c.3666G>A (p.Leu1222=) single nucleotide variant not provided [RCV002988379] Chr5:151554641 [GRCh38]
Chr5:150934202 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.3106G>C (p.Val1036Leu) single nucleotide variant not specified [RCV004174369] Chr5:151565826 [GRCh38]
Chr5:150945387 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.526G>A (p.Asp176Asn) single nucleotide variant not provided [RCV002601150] Chr5:151568406 [GRCh38]
Chr5:150947967 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.5025T>C (p.Val1675=) single nucleotide variant not provided [RCV002670748] Chr5:151546102 [GRCh38]
Chr5:150925663 [GRCh37]
Chr5:5q33.1		 benign
NM_001447.3(FAT2):c.5647G>A (p.Gly1883Arg) single nucleotide variant not provided [RCV002966192] Chr5:151545480 [GRCh38]
Chr5:150925041 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.3963T>G (p.Ser1321Arg) single nucleotide variant not specified [RCV004123521] Chr5:151553370 [GRCh38]
Chr5:150932931 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.3363T>G (p.Thr1121=) single nucleotide variant not provided [RCV003065968] Chr5:151563536 [GRCh38]
Chr5:150943097 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.12339C>A (p.Asn4113Lys) single nucleotide variant not specified [RCV004123656] Chr5:151507332 [GRCh38]
Chr5:150886893 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.6029A>G (p.Asp2010Gly) single nucleotide variant not provided [RCV002633091]|not specified [RCV004070619] Chr5:151545098 [GRCh38]
Chr5:150924659 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.3290G>A (p.Arg1097Gln) single nucleotide variant not provided [RCV002941888]|not specified [RCV004067117] Chr5:151563609 [GRCh38]
Chr5:150943170 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.11800G>A (p.Gly3934Ser) single nucleotide variant not provided [RCV002581503] Chr5:151512270 [GRCh38]
Chr5:150891831 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.1442C>T (p.Thr481Ile) single nucleotide variant not provided [RCV002602366] Chr5:151567490 [GRCh38]
Chr5:150947051 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.160A>T (p.Ser54Cys) single nucleotide variant not provided [RCV003047957] Chr5:151568772 [GRCh38]
Chr5:150948333 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.3006T>A (p.Ser1002Arg) single nucleotide variant not specified [RCV004163010] Chr5:151565926 [GRCh38]
Chr5:150945487 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.9382G>A (p.Val3128Met) single nucleotide variant not specified [RCV004163011] Chr5:151534454 [GRCh38]
Chr5:150914015 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.6910A>C (p.Asn2304His) single nucleotide variant not specified [RCV004163042] Chr5:151544217 [GRCh38]
Chr5:150923778 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.6643C>T (p.Leu2215=) single nucleotide variant not provided [RCV002807261] Chr5:151544484 [GRCh38]
Chr5:150924045 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.9809C>T (p.Thr3270Ile) single nucleotide variant not provided [RCV002598568]|not specified [RCV004617203] Chr5:151531589 [GRCh38]
Chr5:150911150 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.4660C>T (p.Arg1554Cys) single nucleotide variant not provided [RCV002658121]|not specified [RCV004066664] Chr5:151549424 [GRCh38]
Chr5:150928985 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.9469G>A (p.Glu3157Lys) single nucleotide variant not provided [RCV003088626] Chr5:151531929 [GRCh38]
Chr5:150911490 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.3296T>C (p.Phe1099Ser) single nucleotide variant not provided [RCV003011019] Chr5:151563603 [GRCh38]
Chr5:150943164 [GRCh37]
Chr5:5q33.1		 benign|likely benign
NM_001447.3(FAT2):c.4405C>A (p.Arg1469=) single nucleotide variant not provided [RCV003009333] Chr5:151550763 [GRCh38]
Chr5:150930324 [GRCh37]
Chr5:5q33.1		 benign|likely benign
NM_001447.3(FAT2):c.2881C>T (p.Arg961Ter) single nucleotide variant not provided [RCV003028036] Chr5:151566051 [GRCh38]
Chr5:150945612 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.7995T>G (p.Asp2665Glu) single nucleotide variant FAT2-related disorder [RCV003395610]|not provided [RCV002599941]|not specified [RCV004621729] Chr5:151543132 [GRCh38]
Chr5:150922693 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.6595G>C (p.Glu2199Gln) single nucleotide variant not provided [RCV002937703] Chr5:151544532 [GRCh38]
Chr5:150924093 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.5453G>C (p.Ser1818Thr) single nucleotide variant not provided [RCV002629237] Chr5:151545674 [GRCh38]
Chr5:150925235 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.6449C>T (p.Thr2150Met) single nucleotide variant FAT2-related disorder [RCV003961234]|not provided [RCV002938151] Chr5:151544678 [GRCh38]
Chr5:150924239 [GRCh37]
Chr5:5q33.1		 benign|likely benign
NM_001447.3(FAT2):c.9163G>A (p.Ala3055Thr) single nucleotide variant not provided [RCV002600361] Chr5:151537823 [GRCh38]
Chr5:150917384 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.10544C>T (p.Thr3515Met) single nucleotide variant not provided [RCV002598546] Chr5:151522049 [GRCh38]
Chr5:150901610 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.7472C>A (p.Ala2491Glu) single nucleotide variant not provided [RCV002627915] Chr5:151543655 [GRCh38]
Chr5:150923216 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.7780A>G (p.Ile2594Val) single nucleotide variant not specified [RCV004183495] Chr5:151543347 [GRCh38]
Chr5:150922908 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.5421G>A (p.Pro1807=) single nucleotide variant FAT2-related disorder [RCV003906408]|not provided [RCV002962724] Chr5:151545706 [GRCh38]
Chr5:150925267 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.3231C>T (p.Leu1077=) single nucleotide variant FAT2-related disorder [RCV003906357]|not provided [RCV002933785] Chr5:151565701 [GRCh38]
Chr5:150945262 [GRCh37]
Chr5:5q33.1		 benign|likely benign
NM_001447.3(FAT2):c.1848C>T (p.Ser616=) single nucleotide variant FAT2-related disorder [RCV003906358]|not provided [RCV002933786] Chr5:151567084 [GRCh38]
Chr5:150946645 [GRCh37]
Chr5:5q33.1		 benign
NM_001447.3(FAT2):c.10436C>T (p.Pro3479Leu) single nucleotide variant not provided [RCV002627906] Chr5:151525838 [GRCh38]
Chr5:150905399 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.12384C>T (p.Leu4128=) single nucleotide variant not provided [RCV002601860] Chr5:151507287 [GRCh38]
Chr5:150886848 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.2975G>A (p.Arg992Gln) single nucleotide variant FAT2-related disorder [RCV003973500]|not provided [RCV002856915] Chr5:151565957 [GRCh38]
Chr5:150945518 [GRCh37]
Chr5:5q33.1		 benign
NM_001447.3(FAT2):c.12280G>C (p.Asp4094His) single nucleotide variant not provided [RCV002601891] Chr5:151507391 [GRCh38]
Chr5:150886952 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.9761G>A (p.Arg3254His) single nucleotide variant not specified [RCV004108320] Chr5:151531637 [GRCh38]
Chr5:150911198 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.11810A>G (p.Glu3937Gly) single nucleotide variant not specified [RCV004166419] Chr5:151512260 [GRCh38]
Chr5:150891821 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.3988G>A (p.Val1330Ile) single nucleotide variant not specified [RCV004178194] Chr5:151553345 [GRCh38]
Chr5:150932906 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.12123G>C (p.Arg4041Ser) single nucleotide variant not provided [RCV003062930]|not specified [RCV004070328] Chr5:151507548 [GRCh38]
Chr5:150887109 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.3009T>C (p.Asp1003=) single nucleotide variant FAT2-related disorder [RCV003926503]|not provided [RCV002900593] Chr5:151565923 [GRCh38]
Chr5:150945484 [GRCh37]
Chr5:5q33.1		 benign|likely benign
NM_001447.3(FAT2):c.7237C>T (p.Arg2413Cys) single nucleotide variant not provided [RCV002601143]|not specified [RCV004065631] Chr5:151543890 [GRCh38]
Chr5:150923451 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.2177A>G (p.Glu726Gly) single nucleotide variant not specified [RCV004219809] Chr5:151566755 [GRCh38]
Chr5:150946316 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.764C>T (p.Ala255Val) single nucleotide variant not specified [RCV004178342] Chr5:151568168 [GRCh38]
Chr5:150947729 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.9130G>A (p.Ala3044Thr) single nucleotide variant not provided [RCV002646483] Chr5:151537856 [GRCh38]
Chr5:150917417 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.9947A>G (p.Glu3316Gly) single nucleotide variant not specified [RCV004176970] Chr5:151529257 [GRCh38]
Chr5:150908818 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.12124G>T (p.Gly4042Trp) single nucleotide variant not provided [RCV002966545]|not specified [RCV004068144] Chr5:151507547 [GRCh38]
Chr5:150887108 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.3280C>T (p.Pro1094Ser) single nucleotide variant not provided [RCV002597836]|not specified [RCV004065629] Chr5:151563619 [GRCh38]
Chr5:150943180 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.11464-16T>C single nucleotide variant not provided [RCV002598065] Chr5:151512622 [GRCh38]
Chr5:150892183 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.4009A>G (p.Ile1337Val) single nucleotide variant not provided [RCV002579311]|not specified [RCV004621711] Chr5:151553324 [GRCh38]
Chr5:150932885 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.7973A>T (p.Asp2658Val) single nucleotide variant not specified [RCV004076489] Chr5:151543154 [GRCh38]
Chr5:150922715 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.6280G>A (p.Ala2094Thr) single nucleotide variant not provided [RCV002833606] Chr5:151544847 [GRCh38]
Chr5:150924408 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.3019C>A (p.Pro1007Thr) single nucleotide variant not specified [RCV004096143] Chr5:151565913 [GRCh38]
Chr5:150945474 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.4117G>A (p.Val1373Ile) single nucleotide variant not provided [RCV002900149] Chr5:151553216 [GRCh38]
Chr5:150932777 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.2359A>T (p.Ile787Phe) single nucleotide variant not provided [RCV002675544] Chr5:151566573 [GRCh38]
Chr5:150946134 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.8970G>A (p.Lys2990=) single nucleotide variant not provided [RCV002746174] Chr5:151540636 [GRCh38]
Chr5:150920197 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.3045T>C (p.His1015=) single nucleotide variant not provided [RCV003061008] Chr5:151565887 [GRCh38]
Chr5:150945448 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.2757C>T (p.Asn919=) single nucleotide variant not provided [RCV002962168] Chr5:151566175 [GRCh38]
Chr5:150945736 [GRCh37]
Chr5:5q33.1		 benign
NM_001447.3(FAT2):c.10377C>A (p.Gly3459=) single nucleotide variant not provided [RCV002717295] Chr5:151525897 [GRCh38]
Chr5:150905458 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.9191C>T (p.Thr3064Ile) single nucleotide variant not provided [RCV003030001] Chr5:151537795 [GRCh38]
Chr5:150917356 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.4280G>A (p.Arg1427His) single nucleotide variant not provided [RCV002576969]|not specified [RCV004064419] Chr5:151551483 [GRCh38]
Chr5:150931044 [GRCh37]
Chr5:5q33.1		 likely benign|uncertain significance
NM_001447.3(FAT2):c.11306G>A (p.Cys3769Tyr) single nucleotide variant not provided [RCV002601831] Chr5:151521287 [GRCh38]
Chr5:150900848 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.2448C>T (p.Asn816=) single nucleotide variant not provided [RCV002895476] Chr5:151566484 [GRCh38]
Chr5:150946045 [GRCh37]
Chr5:5q33.1		 benign|likely benign
NM_001447.3(FAT2):c.2088T>C (p.Asp696=) single nucleotide variant not provided [RCV002714798]|not specified [RCV004700807] Chr5:151566844 [GRCh38]
Chr5:150946405 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.9281C>G (p.Ser3094Trp) single nucleotide variant not provided [RCV003090079] Chr5:151534555 [GRCh38]
Chr5:150914116 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.9063T>C (p.His3021=) single nucleotide variant FAT2-related disorder [RCV003903801]|not provided [RCV002895335] Chr5:151537923 [GRCh38]
Chr5:150917484 [GRCh37]
Chr5:5q33.1		 benign
NM_001447.3(FAT2):c.6617A>G (p.Asn2206Ser) single nucleotide variant not provided [RCV002628399] Chr5:151544510 [GRCh38]
Chr5:150924071 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.9432C>T (p.Ala3144=) single nucleotide variant not provided [RCV003088868] Chr5:151531966 [GRCh38]
Chr5:150911527 [GRCh37]
Chr5:5q33.1		 benign
NM_001447.3(FAT2):c.11859G>C (p.Gln3953His) single nucleotide variant FAT2-related disorder [RCV003916574]|not provided [RCV002900101] Chr5:151512211 [GRCh38]
Chr5:150891772 [GRCh37]
Chr5:5q33.1		 benign
NM_001447.3(FAT2):c.7598C>G (p.Pro2533Arg) single nucleotide variant not provided [RCV003048170] Chr5:151543529 [GRCh38]
Chr5:150923090 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.11171T>C (p.Met3724Thr) single nucleotide variant not provided [RCV002579141]|not specified [RCV003404091] Chr5:151521422 [GRCh38]
Chr5:150900983 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.4130C>T (p.Pro1377Leu) single nucleotide variant not provided [RCV002651317]|not specified [RCV004070788] Chr5:151553203 [GRCh38]
Chr5:150932764 [GRCh37]
Chr5:5q33.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_001447.3(FAT2):c.12779G>A (p.Arg4260Gln) single nucleotide variant not specified [RCV004105483] Chr5:151505836 [GRCh38]
Chr5:150885397 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.12112G>A (p.Glu4038Lys) single nucleotide variant FAT2-related disorder [RCV003936486]|not provided [RCV002988837] Chr5:151507559 [GRCh38]
Chr5:150887120 [GRCh37]
Chr5:5q33.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001447.3(FAT2):c.10624G>C (p.Glu3542Gln) single nucleotide variant not provided [RCV003062559]|not specified [RCV004070140] Chr5:151521969 [GRCh38]
Chr5:150901530 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.3880G>A (p.Asp1294Asn) single nucleotide variant not specified [RCV004098412] Chr5:151554427 [GRCh38]
Chr5:150933988 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.4052A>G (p.Glu1351Gly) single nucleotide variant not provided [RCV002646630] Chr5:151553281 [GRCh38]
Chr5:150932842 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.3386A>G (p.Asp1129Gly) single nucleotide variant not provided [RCV002651614] Chr5:151563513 [GRCh38]
Chr5:150943074 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.1185T>C (p.Tyr395=) single nucleotide variant not provided [RCV003065601] Chr5:151567747 [GRCh38]
Chr5:150947308 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.6675A>G (p.Leu2225=) single nucleotide variant not provided [RCV002937336] Chr5:151544452 [GRCh38]
Chr5:150924013 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.6274G>A (p.Val2092Ile) single nucleotide variant FAT2-related disorder [RCV003963506]|not provided [RCV002967040] Chr5:151544853 [GRCh38]
Chr5:150924414 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.3151G>C (p.Val1051Leu) single nucleotide variant not specified [RCV004179536] Chr5:151565781 [GRCh38]
Chr5:150945342 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.12799del (p.Cys4267fs) deletion not provided [RCV002601973] Chr5:151505816 [GRCh38]
Chr5:150885377 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.11427T>A (p.Leu3809=) single nucleotide variant not provided [RCV002967006] Chr5:151517656 [GRCh38]
Chr5:150897217 [GRCh37]
Chr5:5q33.1		 benign
NM_001447.3(FAT2):c.11921G>A (p.Cys3974Tyr) single nucleotide variant not specified [RCV004148796] Chr5:151510159 [GRCh38]
Chr5:150889720 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.8799T>C (p.Ala2933=) single nucleotide variant not provided [RCV003010363] Chr5:151542328 [GRCh38]
Chr5:150921889 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.4907G>T (p.Gly1636Val) single nucleotide variant not provided [RCV002578977]|not specified [RCV004073424] Chr5:151546220 [GRCh38]
Chr5:150925781 [GRCh37]
Chr5:5q33.1		 likely benign|uncertain significance
NM_001447.3(FAT2):c.5296C>G (p.Gln1766Glu) single nucleotide variant not provided [RCV002597466] Chr5:151545831 [GRCh38]
Chr5:150925392 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.7852G>A (p.Ala2618Thr) single nucleotide variant not provided [RCV003087038] Chr5:151543275 [GRCh38]
Chr5:150922836 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.7900A>G (p.Ile2634Val) single nucleotide variant not provided [RCV002921961]|not specified [RCV004066284] Chr5:151543227 [GRCh38]
Chr5:150922788 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.10792T>C (p.Tyr3598His) single nucleotide variant not provided [RCV003047673] Chr5:151521801 [GRCh38]
Chr5:150901362 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.2918G>T (p.Arg973Leu) single nucleotide variant not provided [RCV003065527] Chr5:151566014 [GRCh38]
Chr5:150945575 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.4790-7del deletion not provided [RCV002725772] Chr5:151546344 [GRCh38]
Chr5:150925905 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.6436C>T (p.Arg2146Trp) single nucleotide variant not specified [RCV004133734] Chr5:151544691 [GRCh38]
Chr5:150924252 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.5646C>T (p.Val1882=) single nucleotide variant not provided [RCV003092765] Chr5:151545481 [GRCh38]
Chr5:150925042 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.2489C>T (p.Ser830Leu) single nucleotide variant not provided [RCV002604513] Chr5:151566443 [GRCh38]
Chr5:150946004 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.12564C>T (p.Asn4188=) single nucleotide variant not provided [RCV002943553] Chr5:151506051 [GRCh38]
Chr5:150885612 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.7346C>T (p.Ser2449Phe) single nucleotide variant not provided [RCV002654098] Chr5:151543781 [GRCh38]
Chr5:150923342 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.5514C>A (p.Phe1838Leu) single nucleotide variant not provided [RCV002725471] Chr5:151545613 [GRCh38]
Chr5:150925174 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.4241C>T (p.Ser1414Leu) single nucleotide variant not provided [RCV003092974] Chr5:151551522 [GRCh38]
Chr5:150931083 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.5555C>T (p.Ala1852Val) single nucleotide variant not provided [RCV002652989] Chr5:151545572 [GRCh38]
Chr5:150925133 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.438T>C (p.Pro146=) single nucleotide variant not provided [RCV002943062] Chr5:151568494 [GRCh38]
Chr5:150948055 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.3354T>C (p.Ser1118=) single nucleotide variant not provided [RCV002603710] Chr5:151563545 [GRCh38]
Chr5:150943106 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.8039A>T (p.Gln2680Leu) single nucleotide variant not specified [RCV004085092] Chr5:151543088 [GRCh38]
Chr5:150922649 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.12807T>C (p.Asn4269=) single nucleotide variant not provided [RCV003066519] Chr5:151505808 [GRCh38]
Chr5:150885369 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.4026G>A (p.Pro1342=) single nucleotide variant not provided [RCV002604609] Chr5:151553307 [GRCh38]
Chr5:150932868 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.10650G>A (p.Val3550=) single nucleotide variant not provided [RCV003068921] Chr5:151521943 [GRCh38]
Chr5:150901504 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.12214C>T (p.Arg4072Cys) single nucleotide variant not provided [RCV002584668] Chr5:151507457 [GRCh38]
Chr5:150887018 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.2662C>T (p.Arg888Trp) single nucleotide variant not provided [RCV002584884] Chr5:151566270 [GRCh38]
Chr5:150945831 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.11464-8C>G single nucleotide variant not provided [RCV002609456] Chr5:151512614 [GRCh38]
Chr5:150892175 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.12059+20C>T single nucleotide variant not provided [RCV002725373] Chr5:151510001 [GRCh38]
Chr5:150889562 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.10157G>A (p.Arg3386Gln) single nucleotide variant not provided [RCV002606501] Chr5:151528003 [GRCh38]
Chr5:150907564 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.10014C>T (p.Asp3338=) single nucleotide variant not provided [RCV003071638] Chr5:151529190 [GRCh38]
Chr5:150908751 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.6136C>T (p.Arg2046Trp) single nucleotide variant not provided [RCV002609636] Chr5:151544991 [GRCh38]
Chr5:150924552 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.11869C>T (p.Leu3957Phe) single nucleotide variant not provided [RCV002585072]|not specified [RCV004073390] Chr5:151512201 [GRCh38]
Chr5:150891762 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.12995A>G (p.Glu4332Gly) single nucleotide variant not provided [RCV002589430] Chr5:151505620 [GRCh38]
Chr5:150885181 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.11695T>C (p.Leu3899=) single nucleotide variant not provided [RCV002589746] Chr5:151512375 [GRCh38]
Chr5:150891936 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.9828C>T (p.Asn3276=) single nucleotide variant not provided [RCV002585413] Chr5:151529376 [GRCh38]
Chr5:150908937 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.12881G>T (p.Gly4294Val) single nucleotide variant not provided [RCV002590142]|not specified [RCV004065617] Chr5:151505734 [GRCh38]
Chr5:150885295 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.3442G>C (p.Glu1148Gln) single nucleotide variant not provided [RCV002658110] Chr5:151563457 [GRCh38]
Chr5:150943018 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.2556T>C (p.Asn852=) single nucleotide variant FAT2-related disorder [RCV003926690]|not provided [RCV003093574] Chr5:151566376 [GRCh38]
Chr5:150945937 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.1932T>C (p.Asp644=) single nucleotide variant not provided [RCV003051494] Chr5:151567000 [GRCh38]
Chr5:150946561 [GRCh37]
Chr5:5q33.1		 benign
NM_001447.3(FAT2):c.12515T>C (p.Met4172Thr) single nucleotide variant not provided [RCV002606254] Chr5:151507156 [GRCh38]
Chr5:150886717 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.11797G>A (p.Ala3933Thr) single nucleotide variant not provided [RCV002608983] Chr5:151512273 [GRCh38]
Chr5:150891834 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.6919G>A (p.Val2307Ile) single nucleotide variant not provided [RCV002612968] Chr5:151544208 [GRCh38]
Chr5:150923769 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.4894_4895delinsAA (p.Ala1632Lys) indel not provided [RCV002588448] Chr5:151546232..151546233 [GRCh38]
Chr5:150925793..150925794 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.11284C>T (p.Arg3762Trp) single nucleotide variant not provided [RCV002942512] Chr5:151521309 [GRCh38]
Chr5:150900870 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.12356C>T (p.Pro4119Leu) single nucleotide variant not specified [RCV004098670] Chr5:151507315 [GRCh38]
Chr5:150886876 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.12861_12862delinsAA (p.Pro4288Thr) indel not provided [RCV002583888] Chr5:151505753..151505754 [GRCh38]
Chr5:150885314..150885315 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.9910G>A (p.Val3304Met) single nucleotide variant not provided [RCV002611529]|not specified [RCV004069114] Chr5:151529294 [GRCh38]
Chr5:150908855 [GRCh37]
Chr5:5q33.1		 likely benign|uncertain significance
NM_001447.3(FAT2):c.10382C>G (p.Pro3461Arg) single nucleotide variant not provided [RCV002658146]|not specified [RCV004066717] Chr5:151525892 [GRCh38]
Chr5:150905453 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.7528A>G (p.Ser2510Gly) single nucleotide variant not provided [RCV002604923] Chr5:151543599 [GRCh38]
Chr5:150923160 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.11214T>A (p.His3738Gln) single nucleotide variant not provided [RCV002589431] Chr5:151521379 [GRCh38]
Chr5:150900940 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.11259C>T (p.Thr3753=) single nucleotide variant not provided [RCV002635357] Chr5:151521334 [GRCh38]
Chr5:150900895 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.12662G>C (p.Gly4221Ala) single nucleotide variant not provided [RCV002589674] Chr5:151505953 [GRCh38]
Chr5:150885514 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.5682G>A (p.Val1894=) single nucleotide variant not provided [RCV002634409] Chr5:151545445 [GRCh38]
Chr5:150925006 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.10148C>T (p.Ala3383Val) single nucleotide variant FAT2-related disorder [RCV003943631]|not provided [RCV002943356]|not specified [RCV004068011] Chr5:151528012 [GRCh38]
Chr5:150907573 [GRCh37]
Chr5:5q33.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001447.3(FAT2):c.5691C>T (p.Ser1897=) single nucleotide variant not provided [RCV002586145] Chr5:151545436 [GRCh38]
Chr5:150924997 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.4703T>C (p.Ile1568Thr) single nucleotide variant not provided [RCV002610497] Chr5:151549381 [GRCh38]
Chr5:150928942 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.2647C>G (p.Arg883Gly) single nucleotide variant not provided [RCV002634555] Chr5:151566285 [GRCh38]
Chr5:150945846 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.9335G>A (p.Arg3112Gln) single nucleotide variant not specified [RCV004217308] Chr5:151534501 [GRCh38]
Chr5:150914062 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.11537A>G (p.His3846Arg) single nucleotide variant not specified [RCV004289957] Chr5:151512533 [GRCh38]
Chr5:150892094 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.1321T>C (p.Ser441Pro) single nucleotide variant not specified [RCV004278412] Chr5:151567611 [GRCh38]
Chr5:150947172 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.6668G>C (p.Gly2223Ala) single nucleotide variant not specified [RCV004264486] Chr5:151544459 [GRCh38]
Chr5:150924020 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.9946G>A (p.Glu3316Lys) single nucleotide variant not specified [RCV004256190] Chr5:151529258 [GRCh38]
Chr5:150908819 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.12349C>A (p.Pro4117Thr) single nucleotide variant not specified [RCV004259727] Chr5:151507322 [GRCh38]
Chr5:150886883 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.2234G>C (p.Gly745Ala) single nucleotide variant not specified [RCV004265905] Chr5:151566698 [GRCh38]
Chr5:150946259 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.10855G>C (p.Val3619Leu) single nucleotide variant not specified [RCV004267855] Chr5:151521738 [GRCh38]
Chr5:150901299 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.9528G>C (p.Gln3176His) single nucleotide variant not specified [RCV004279600] Chr5:151531870 [GRCh38]
Chr5:150911431 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.7882G>A (p.Asp2628Asn) single nucleotide variant not specified [RCV004268649] Chr5:151543245 [GRCh38]
Chr5:150922806 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.10027G>T (p.Val3343Leu) single nucleotide variant not specified [RCV003331461] Chr5:151528133 [GRCh38]
Chr5:150907694 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.11962G>C (p.Glu3988Gln) single nucleotide variant not specified [RCV004280458] Chr5:151510118 [GRCh38]
Chr5:150889679 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.809C>T (p.Thr270Ile) single nucleotide variant not specified [RCV004275892] Chr5:151568123 [GRCh38]
Chr5:150947684 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.12190G>A (p.Val4064Ile) single nucleotide variant not provided [RCV003223197] Chr5:151507481 [GRCh38]
Chr5:150887042 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.11330G>C (p.Arg3777Thr) single nucleotide variant not provided [RCV003223198] Chr5:151517753 [GRCh38]
Chr5:150897314 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.11264G>C (p.Arg3755Thr) single nucleotide variant not specified [RCV004267790] Chr5:151521329 [GRCh38]
Chr5:150900890 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.10366C>T (p.Pro3456Ser) single nucleotide variant not specified [RCV004269765] Chr5:151525908 [GRCh38]
Chr5:150905469 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.11435C>T (p.Thr3812Ile) single nucleotide variant Spinocerebellar ataxia 45 [RCV003147191] Chr5:151517648 [GRCh38]
Chr5:150897209 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.3781G>C (p.Gly1261Arg) single nucleotide variant Spinocerebellar ataxia 45 [RCV003147192]|not provided [RCV003720773] Chr5:151554526 [GRCh38]
Chr5:150934087 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.12337A>G (p.Asn4113Asp) single nucleotide variant Spinocerebellar ataxia 45 [RCV003147193] Chr5:151507334 [GRCh38]
Chr5:150886895 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.10111A>G (p.Ile3371Val) single nucleotide variant Spinocerebellar ataxia 45 [RCV003147194]|not specified [RCV004246141] Chr5:151528049 [GRCh38]
Chr5:150907610 [GRCh37]
Chr5:5q33.1		 likely benign|uncertain significance
NM_001447.3(FAT2):c.12866G>A (p.Cys4289Tyr) single nucleotide variant not specified [RCV004258054] Chr5:151505749 [GRCh38]
Chr5:150885310 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.3587C>T (p.Thr1196Ile) single nucleotide variant not specified [RCV004308026] Chr5:151556390 [GRCh38]
Chr5:150935951 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.8029G>A (p.Val2677Ile) single nucleotide variant not specified [RCV004326737] Chr5:151543098 [GRCh38]
Chr5:150922659 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.12466C>T (p.His4156Tyr) single nucleotide variant not specified [RCV004265427] Chr5:151507205 [GRCh38]
Chr5:150886766 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.8573C>G (p.Thr2858Ser) single nucleotide variant not specified [RCV004259058] Chr5:151542554 [GRCh38]
Chr5:150922115 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.842G>A (p.Ser281Asn) single nucleotide variant not specified [RCV004279897] Chr5:151568090 [GRCh38]
Chr5:150947651 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.4895C>A (p.Ala1632Glu) single nucleotide variant not specified [RCV004254325] Chr5:151546232 [GRCh38]
Chr5:150925793 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.2515A>G (p.Ile839Val) single nucleotide variant not provided [RCV003708740]|not specified [RCV004254462] Chr5:151566417 [GRCh38]
Chr5:150945978 [GRCh37]
Chr5:5q33.1		 likely benign|uncertain significance
NM_001447.3(FAT2):c.6605G>A (p.Arg2202Gln) single nucleotide variant not specified [RCV004256621] Chr5:151544522 [GRCh38]
Chr5:150924083 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.11329A>C (p.Arg3777=) single nucleotide variant not provided [RCV003223199] Chr5:151517754 [GRCh38]
Chr5:150897315 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.4106G>A (p.Gly1369Glu) single nucleotide variant not specified [RCV004273929] Chr5:151553227 [GRCh38]
Chr5:150932788 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.12314C>A (p.Pro4105Gln) single nucleotide variant not specified [RCV004324917] Chr5:151507357 [GRCh38]
Chr5:150886918 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.4627A>T (p.Ile1543Phe) single nucleotide variant not provided [RCV003322068] Chr5:151549457 [GRCh38]
Chr5:150929018 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.7333C>T (p.His2445Tyr) single nucleotide variant not provided [RCV003549064]|not specified [RCV004339321] Chr5:151543794 [GRCh38]
Chr5:150923355 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.8703C>T (p.Asp2901=) single nucleotide variant not specified [RCV003331973] Chr5:151542424 [GRCh38]
Chr5:150921985 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.5397G>T (p.Leu1799Phe) single nucleotide variant not specified [RCV004344959] Chr5:151545730 [GRCh38]
Chr5:150925291 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.215G>A (p.Arg72Gln) single nucleotide variant not provided [RCV003777530]|not specified [RCV004345452] Chr5:151568717 [GRCh38]
Chr5:150948278 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.13042A>G (p.Met4348Val) single nucleotide variant not specified [RCV004340182] Chr5:151505573 [GRCh38]
Chr5:150885134 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.10000G>A (p.Ala3334Thr) single nucleotide variant not specified [RCV004346057] Chr5:151529204 [GRCh38]
Chr5:150908765 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.9323A>G (p.Asp3108Gly) single nucleotide variant not specified [RCV004346818] Chr5:151534513 [GRCh38]
Chr5:150914074 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.7021G>A (p.Ala2341Thr) single nucleotide variant not specified [RCV004346431] Chr5:151544106 [GRCh38]
Chr5:150923667 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.650A>G (p.His217Arg) single nucleotide variant not specified [RCV004358386] Chr5:151568282 [GRCh38]
Chr5:150947843 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.3043C>T (p.His1015Tyr) single nucleotide variant not specified [RCV004352972] Chr5:151565889 [GRCh38]
Chr5:150945450 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.9827A>G (p.Asn3276Ser) single nucleotide variant not specified [RCV004354876] Chr5:151529377 [GRCh38]
Chr5:150908938 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.8168T>A (p.Ile2723Asn) single nucleotide variant not specified [RCV004364149] Chr5:151542959 [GRCh38]
Chr5:150922520 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.12941T>A (p.Val4314Glu) single nucleotide variant not specified [RCV004353720] Chr5:151505674 [GRCh38]
Chr5:150885235 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.8638C>T (p.His2880Tyr) single nucleotide variant not specified [RCV004358538] Chr5:151542489 [GRCh38]
Chr5:150922050 [GRCh37]
Chr5:5q33.1		 uncertain significance
GRCh37/hg19 5q33.1(chr5:150824775-151023610)x1 copy number loss not provided [RCV003485487] Chr5:150824775..151023610 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.6604C>T (p.Arg2202Trp) single nucleotide variant not provided [RCV003570744] Chr5:151544523 [GRCh38]
Chr5:150924084 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.12264C>T (p.Ala4088=) single nucleotide variant not provided [RCV003873964] Chr5:151507407 [GRCh38]
Chr5:150886968 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.9039+17G>T single nucleotide variant not provided [RCV003826117] Chr5:151540550 [GRCh38]
Chr5:150920111 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.2902G>A (p.Ala968Thr) single nucleotide variant not provided [RCV003825391] Chr5:151566030 [GRCh38]
Chr5:150945591 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.3837C>T (p.Val1279=) single nucleotide variant not provided [RCV003429927] Chr5:151554470 [GRCh38]
Chr5:150934031 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.4247A>G (p.Tyr1416Cys) single nucleotide variant FAT2-related disorder [RCV003421010] Chr5:151551516 [GRCh38]
Chr5:150931077 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.12538G>C (p.Val4180Leu) single nucleotide variant not provided [RCV003720909]|not specified [RCV003404848] Chr5:151506077 [GRCh38]
Chr5:150885638 [GRCh37]
Chr5:5q33.1		 uncertain significance
GRCh37/hg19 5q33.1(chr5:150701814-150965406)x3 copy number gain not provided [RCV003484630] Chr5:150701814..150965406 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.7122C>T (p.Asp2374=) single nucleotide variant FAT2-related disorder [RCV003929146]|not provided [RCV003428683] Chr5:151544005 [GRCh38]
Chr5:150923566 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.6780C>G (p.Val2260=) single nucleotide variant not provided [RCV003429921] Chr5:151544347 [GRCh38]
Chr5:150923908 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.847G>A (p.Gly283Arg) single nucleotide variant not provided [RCV003429931]|not specified [RCV004364609] Chr5:151568085 [GRCh38]
Chr5:150947646 [GRCh37]
Chr5:5q33.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001447.3(FAT2):c.10054del (p.Pro3351_Leu3352insTer) deletion not specified [RCV003388396] Chr5:151528106 [GRCh38]
Chr5:150907667 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.3844A>T (p.Ser1282Cys) single nucleotide variant not provided [RCV003429926] Chr5:151554463 [GRCh38]
Chr5:150934024 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.1518T>C (p.Ser506=) single nucleotide variant not provided [RCV003429928] Chr5:151567414 [GRCh38]
Chr5:150946975 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.1326C>T (p.Thr442=) single nucleotide variant not provided [RCV003429929] Chr5:151567606 [GRCh38]
Chr5:150947167 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.6927T>C (p.Tyr2309=) single nucleotide variant not specified [RCV003404755] Chr5:151544200 [GRCh38]
Chr5:150923761 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.2197C>T (p.Pro733Ser) single nucleotide variant not specified [RCV003405044] Chr5:151566735 [GRCh38]
Chr5:150946296 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.9499G>C (p.Gly3167Arg) single nucleotide variant not provided [RCV003429919] Chr5:151531899 [GRCh38]
Chr5:150911460 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.7809G>A (p.Pro2603=) single nucleotide variant not provided [RCV003429920] Chr5:151543318 [GRCh38]
Chr5:150922879 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.7005A>G (p.Gln2335=) single nucleotide variant not provided [RCV003428684] Chr5:151544122 [GRCh38]
Chr5:150923683 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.57G>A (p.Glu19=) single nucleotide variant not provided [RCV003428687] Chr5:151568875 [GRCh38]
Chr5:150948436 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.698G>A (p.Gly233Asp) single nucleotide variant not specified [RCV003388320] Chr5:151568234 [GRCh38]
Chr5:150947795 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.12212G>C (p.Arg4071Pro) single nucleotide variant not provided [RCV003429916] Chr5:151507459 [GRCh38]
Chr5:150887020 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.11899G>A (p.Gly3967Arg) single nucleotide variant not provided [RCV003429917] Chr5:151512171 [GRCh38]
Chr5:150891732 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.6358C>T (p.Pro2120Ser) single nucleotide variant not provided [RCV003429922] Chr5:151544769 [GRCh38]
Chr5:150924330 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.3869C>A (p.Ala1290Asp) single nucleotide variant not provided [RCV003429925] Chr5:151554438 [GRCh38]
Chr5:150933999 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.1086C>G (p.Phe362Leu) single nucleotide variant not provided [RCV003429930] Chr5:151567846 [GRCh38]
Chr5:150947407 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.3214C>A (p.Arg1072Ser) single nucleotide variant not specified [RCV003404785] Chr5:151565718 [GRCh38]
Chr5:150945279 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.11260G>A (p.Ala3754Thr) single nucleotide variant FAT2-related disorder [RCV003408783] Chr5:151521333 [GRCh38]
Chr5:150900894 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.7359G>T (p.Arg2453Ser) single nucleotide variant not specified [RCV003405045] Chr5:151543768 [GRCh38]
Chr5:150923329 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.4633G>T (p.Val1545Leu) single nucleotide variant not provided [RCV003429923] Chr5:151549451 [GRCh38]
Chr5:150929012 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.1350C>A (p.Asp450Glu) single nucleotide variant not provided [RCV003428685] Chr5:151567582 [GRCh38]
Chr5:150947143 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.321G>A (p.Leu107=) single nucleotide variant not provided [RCV003428686] Chr5:151568611 [GRCh38]
Chr5:150948172 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.9811+15C>T single nucleotide variant not specified [RCV003405043] Chr5:151531572 [GRCh38]
Chr5:150911133 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.11582A>G (p.Asp3861Gly) single nucleotide variant not provided [RCV003429918] Chr5:151512488 [GRCh38]
Chr5:150892049 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.4082C>T (p.Thr1361Met) single nucleotide variant not provided [RCV003429924] Chr5:151553251 [GRCh38]
Chr5:150932812 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.12853G>C (p.Gly4285Arg) single nucleotide variant not provided [RCV003428678] Chr5:151505762 [GRCh38]
Chr5:150885323 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.11845G>C (p.Asp3949His) single nucleotide variant not provided [RCV003428679] Chr5:151512225 [GRCh38]
Chr5:150891786 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.9384G>A (p.Val3128=) single nucleotide variant not provided [RCV003428681] Chr5:151534452 [GRCh38]
Chr5:150914013 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.8640C>T (p.His2880=) single nucleotide variant not provided [RCV003428682] Chr5:151542487 [GRCh38]
Chr5:150922048 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.9784G>C (p.Gly3262Arg) single nucleotide variant not provided [RCV003428680] Chr5:151531614 [GRCh38]
Chr5:150911175 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.1631G>A (p.Arg544Gln) single nucleotide variant not provided [RCV003738845] Chr5:151567301 [GRCh38]
Chr5:150946862 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.6106C>G (p.His2036Asp) single nucleotide variant not provided [RCV003881320] Chr5:151545021 [GRCh38]
Chr5:150924582 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.9805C>T (p.Arg3269Cys) single nucleotide variant not provided [RCV003573992]|not specified [RCV004614475] Chr5:151531593 [GRCh38]
Chr5:150911154 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.10815C>T (p.Ser3605=) single nucleotide variant FAT2-related disorder [RCV003956471]|not provided [RCV003696690] Chr5:151521778 [GRCh38]
Chr5:150901339 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.12438C>G (p.Pro4146=) single nucleotide variant not provided [RCV003831022] Chr5:151507233 [GRCh38]
Chr5:150886794 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.4794C>G (p.Asn1598Lys) single nucleotide variant not provided [RCV003694830] Chr5:151546333 [GRCh38]
Chr5:150925894 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.10545G>A (p.Thr3515=) single nucleotide variant not provided [RCV003829889] Chr5:151522048 [GRCh38]
Chr5:150901609 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.2207G>C (p.Arg736Pro) single nucleotide variant not provided [RCV003696420] Chr5:151566725 [GRCh38]
Chr5:150946286 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.12877G>A (p.Gly4293Arg) single nucleotide variant not provided [RCV003739884] Chr5:151505738 [GRCh38]
Chr5:150885299 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.6750G>C (p.Leu2250=) single nucleotide variant not provided [RCV003848857] Chr5:151544377 [GRCh38]
Chr5:150923938 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.8367C>T (p.Asp2789=) single nucleotide variant not provided [RCV003578562] Chr5:151542760 [GRCh38]
Chr5:150922321 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.4434C>T (p.Gly1478=) single nucleotide variant not provided [RCV003575638] Chr5:151550734 [GRCh38]
Chr5:150930295 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.4239G>T (p.Arg1413Ser) single nucleotide variant not provided [RCV003882542] Chr5:151551524 [GRCh38]
Chr5:150931085 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.2216C>T (p.Ala739Val) single nucleotide variant not provided [RCV003544863] Chr5:151566716 [GRCh38]
Chr5:150946277 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.12175A>G (p.Ile4059Val) single nucleotide variant not provided [RCV003575702] Chr5:151507496 [GRCh38]
Chr5:150887057 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.11749G>A (p.Val3917Met) single nucleotide variant not provided [RCV003693730] Chr5:151512321 [GRCh38]
Chr5:150891882 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.194C>T (p.Pro65Leu) single nucleotide variant not provided [RCV003688818] Chr5:151568738 [GRCh38]
Chr5:150948299 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.6969G>T (p.Gln2323His) single nucleotide variant not provided [RCV003826855] Chr5:151544158 [GRCh38]
Chr5:150923719 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.6386A>T (p.Lys2129Ile) single nucleotide variant not provided [RCV003824785] Chr5:151544741 [GRCh38]
Chr5:150924302 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.3945+12G>A single nucleotide variant not provided [RCV003714653] Chr5:151554350 [GRCh38]
Chr5:150933911 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.1110G>A (p.Gln370=) single nucleotide variant not provided [RCV003739334] Chr5:151567822 [GRCh38]
Chr5:150947383 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.8067G>A (p.Pro2689=) single nucleotide variant not provided [RCV003824471] Chr5:151543060 [GRCh38]
Chr5:150922621 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.2393C>T (p.Pro798Leu) single nucleotide variant not provided [RCV003576033] Chr5:151566539 [GRCh38]
Chr5:150946100 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.10027-21_10027-20delinsCT indel not provided [RCV003660321] Chr5:151528153..151528154 [GRCh38]
Chr5:150907714..150907715 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.8001C>A (p.Gly2667=) single nucleotide variant not provided [RCV003661100] Chr5:151543126 [GRCh38]
Chr5:150922687 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.12145T>C (p.Leu4049=) single nucleotide variant not provided [RCV003546122] Chr5:151507526 [GRCh38]
Chr5:150887087 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.5173T>A (p.Ser1725Thr) single nucleotide variant not provided [RCV003663370] Chr5:151545954 [GRCh38]
Chr5:150925515 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.4601T>A (p.Ile1534Asn) single nucleotide variant not provided [RCV003693947] Chr5:151549483 [GRCh38]
Chr5:150929044 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.11684G>T (p.Gly3895Val) single nucleotide variant not provided [RCV003716120] Chr5:151512386 [GRCh38]
Chr5:150891947 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.9511C>T (p.Leu3171=) single nucleotide variant not provided [RCV003573422] Chr5:151531887 [GRCh38]
Chr5:150911448 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.4071G>A (p.Thr1357=) single nucleotide variant not provided [RCV003829878] Chr5:151553262 [GRCh38]
Chr5:150932823 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.991C>T (p.Leu331Phe) single nucleotide variant not provided [RCV003877274] Chr5:151567941 [GRCh38]
Chr5:150947502 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.532G>C (p.Gly178Arg) single nucleotide variant not provided [RCV003715688] Chr5:151568400 [GRCh38]
Chr5:150947961 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.8517C>A (p.Asp2839Glu) single nucleotide variant not provided [RCV003573499]|not specified [RCV004369253] Chr5:151542610 [GRCh38]
Chr5:150922171 [GRCh37]
Chr5:5q33.1		 likely benign|uncertain significance
NM_001447.3(FAT2):c.3986G>A (p.Ser1329Asn) single nucleotide variant not provided [RCV003738844]|not specified [RCV004621888] Chr5:151553347 [GRCh38]
Chr5:150932908 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.11448G>A (p.Ala3816=) single nucleotide variant not provided [RCV003738859] Chr5:151517635 [GRCh38]
Chr5:150897196 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.7529G>A (p.Ser2510Asn) single nucleotide variant not provided [RCV003830044]|not specified [RCV004366828] Chr5:151543598 [GRCh38]
Chr5:150923159 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.787C>T (p.Pro263Ser) single nucleotide variant not provided [RCV003826882] Chr5:151568145 [GRCh38]
Chr5:150947706 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.9401T>C (p.Val3134Ala) single nucleotide variant not provided [RCV003826913] Chr5:151534435 [GRCh38]
Chr5:150913996 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.2049C>T (p.Ile683=) single nucleotide variant FAT2-related disorder [RCV003909168]|not provided [RCV003825558] Chr5:151566883 [GRCh38]
Chr5:150946444 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.12989A>G (p.Asn4330Ser) single nucleotide variant not provided [RCV003826532] Chr5:151505626 [GRCh38]
Chr5:150885187 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.3465T>G (p.Ser1155=) single nucleotide variant not provided [RCV003880026] Chr5:151563434 [GRCh38]
Chr5:150942995 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.6349C>A (p.Arg2117=) single nucleotide variant not provided [RCV003828443] Chr5:151544778 [GRCh38]
Chr5:150924339 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.11852G>A (p.Cys3951Tyr) single nucleotide variant not provided [RCV003661164] Chr5:151512218 [GRCh38]
Chr5:150891779 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.1492G>A (p.Ala498Thr) single nucleotide variant not provided [RCV003575990] Chr5:151567440 [GRCh38]
Chr5:150947001 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.12303C>T (p.Ile4101=) single nucleotide variant not provided [RCV003693565] Chr5:151507368 [GRCh38]
Chr5:150886929 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.12419T>C (p.Val4140Ala) single nucleotide variant not provided [RCV003544062] Chr5:151507252 [GRCh38]
Chr5:150886813 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.3879C>T (p.Ile1293=) single nucleotide variant not provided [RCV003548070] Chr5:151554428 [GRCh38]
Chr5:150933989 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.10552C>T (p.Arg3518Cys) single nucleotide variant not provided [RCV003811850] Chr5:151522041 [GRCh38]
Chr5:150901602 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.10309-14A>C single nucleotide variant not provided [RCV003812152] Chr5:151525979 [GRCh38]
Chr5:150905540 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.11584G>A (p.Ala3862Thr) single nucleotide variant not provided [RCV003852218] Chr5:151512486 [GRCh38]
Chr5:150892047 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.3119A>C (p.Gln1040Pro) single nucleotide variant not provided [RCV003579638] Chr5:151565813 [GRCh38]
Chr5:150945374 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.12262G>A (p.Ala4088Thr) single nucleotide variant not provided [RCV003696884] Chr5:151507409 [GRCh38]
Chr5:150886970 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.3300A>G (p.Ala1100=) single nucleotide variant not provided [RCV003852396] Chr5:151563599 [GRCh38]
Chr5:150943160 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.5450C>T (p.Pro1817Leu) single nucleotide variant not provided [RCV003718056] Chr5:151545677 [GRCh38]
Chr5:150925238 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.3749G>T (p.Arg1250Leu) single nucleotide variant not provided [RCV003835131] Chr5:151554558 [GRCh38]
Chr5:150934119 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.3284T>C (p.Leu1095Pro) single nucleotide variant not provided [RCV003697007] Chr5:151563615 [GRCh38]
Chr5:150943176 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.6040A>G (p.Met2014Val) single nucleotide variant not provided [RCV003579847] Chr5:151545087 [GRCh38]
Chr5:150924648 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.8429T>C (p.Met2810Thr) single nucleotide variant not provided [RCV003717113] Chr5:151542698 [GRCh38]
Chr5:150922259 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.12846G>A (p.Arg4282=) single nucleotide variant not provided [RCV003664763] Chr5:151505769 [GRCh38]
Chr5:150885330 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.10357C>T (p.Pro3453Ser) single nucleotide variant not provided [RCV003832310] Chr5:151525917 [GRCh38]
Chr5:150905478 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.9725C>T (p.Thr3242Ile) single nucleotide variant not provided [RCV003832414] Chr5:151531673 [GRCh38]
Chr5:150911234 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.2470G>C (p.Gly824Arg) single nucleotide variant not provided [RCV003834577] Chr5:151566462 [GRCh38]
Chr5:150946023 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.10001C>A (p.Ala3334Asp) single nucleotide variant not provided [RCV003717545] Chr5:151529203 [GRCh38]
Chr5:150908764 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.4182C>T (p.Asp1394=) single nucleotide variant not provided [RCV003549474] Chr5:151551581 [GRCh38]
Chr5:150931142 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.4960G>A (p.Asp1654Asn) single nucleotide variant not provided [RCV003560734] Chr5:151546167 [GRCh38]
Chr5:150925728 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.10287C>T (p.Leu3429=) single nucleotide variant not provided [RCV003832395] Chr5:151527255 [GRCh38]
Chr5:150906816 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.5579T>C (p.Ile1860Thr) single nucleotide variant not provided [RCV003851394] Chr5:151545548 [GRCh38]
Chr5:150925109 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.9194-7C>T single nucleotide variant not provided [RCV003725842] Chr5:151534649 [GRCh38]
Chr5:150914210 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.12440G>C (p.Arg4147Thr) single nucleotide variant not provided [RCV003548111]|not specified [RCV004369038] Chr5:151507231 [GRCh38]
Chr5:150886792 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.3384G>A (p.Thr1128=) single nucleotide variant not provided [RCV003836933] Chr5:151563515 [GRCh38]
Chr5:150943076 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.7876C>A (p.Pro2626Thr) single nucleotide variant not provided [RCV003812160] Chr5:151543251 [GRCh38]
Chr5:150922812 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.8982G>A (p.Ser2994=) single nucleotide variant not provided [RCV003717095] Chr5:151540624 [GRCh38]
Chr5:150920185 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.9352T>C (p.Cys3118Arg) single nucleotide variant not provided [RCV003700047] Chr5:151534484 [GRCh38]
Chr5:150914045 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.5962G>A (p.Val1988Met) single nucleotide variant not provided [RCV003832654]|not specified [RCV004366838] Chr5:151545165 [GRCh38]
Chr5:150924726 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.1627C>T (p.Arg543Cys) single nucleotide variant not provided [RCV003548561] Chr5:151567305 [GRCh38]
Chr5:150946866 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.47C>A (p.Ala16Glu) single nucleotide variant FAT2-related disorder [RCV004756525]|not provided [RCV003670098] Chr5:151568885 [GRCh38]
Chr5:150948446 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.2801T>C (p.Val934Ala) single nucleotide variant not provided [RCV003673437] Chr5:151566131 [GRCh38]
Chr5:150945692 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.1964A>C (p.Asn655Thr) single nucleotide variant not provided [RCV003659324] Chr5:151566968 [GRCh38]
Chr5:150946529 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.3557T>C (p.Met1186Thr) single nucleotide variant not provided [RCV003670080] Chr5:151563342 [GRCh38]
Chr5:150942903 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.12048C>T (p.Tyr4016=) single nucleotide variant not provided [RCV003836546] Chr5:151510032 [GRCh38]
Chr5:150889593 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.2870C>T (p.Ala957Val) single nucleotide variant not provided [RCV003700620] Chr5:151566062 [GRCh38]
Chr5:150945623 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.5720T>A (p.Ile1907Asn) single nucleotide variant not provided [RCV003548187] Chr5:151545407 [GRCh38]
Chr5:150924968 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.8842+10C>A single nucleotide variant not provided [RCV003717096] Chr5:151542275 [GRCh38]
Chr5:150921836 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.393G>C (p.Leu131Phe) single nucleotide variant not provided [RCV003837752] Chr5:151568539 [GRCh38]
Chr5:150948100 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.4002T>C (p.Ile1334=) single nucleotide variant not provided [RCV003670120] Chr5:151553331 [GRCh38]
Chr5:150932892 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.4581C>T (p.Val1527=) single nucleotide variant not provided [RCV003816005] Chr5:151549503 [GRCh38]
Chr5:150929064 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.6363T>C (p.Tyr2121=) single nucleotide variant not provided [RCV003659241] Chr5:151544764 [GRCh38]
Chr5:150924325 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.11717C>G (p.Ser3906Cys) single nucleotide variant not provided [RCV003833286] Chr5:151512353 [GRCh38]
Chr5:150891914 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.4083G>A (p.Thr1361=) single nucleotide variant not provided [RCV003856431] Chr5:151553250 [GRCh38]
Chr5:150932811 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.12536T>C (p.Met4179Thr) single nucleotide variant not provided [RCV003838571] Chr5:151506079 [GRCh38]
Chr5:150885640 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.10668A>G (p.Thr3556=) single nucleotide variant not provided [RCV003855308] Chr5:151521925 [GRCh38]
Chr5:150901486 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.11909A>G (p.Tyr3970Cys) single nucleotide variant not provided [RCV003659460] Chr5:151510171 [GRCh38]
Chr5:150889732 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.1622C>G (p.Pro541Arg) single nucleotide variant not provided [RCV003700347] Chr5:151567310 [GRCh38]
Chr5:150946871 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.4296+18G>T single nucleotide variant not provided [RCV003837978] Chr5:151551449 [GRCh38]
Chr5:150931010 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.143C>T (p.Pro48Leu) single nucleotide variant not provided [RCV003854436] Chr5:151568789 [GRCh38]
Chr5:150948350 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.11977G>A (p.Ala3993Thr) single nucleotide variant not provided [RCV003814401] Chr5:151510103 [GRCh38]
Chr5:150889664 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.8487T>C (p.Asp2829=) single nucleotide variant not provided [RCV003725952] Chr5:151542640 [GRCh38]
Chr5:150922201 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.10413C>T (p.Asn3471=) single nucleotide variant not provided [RCV003811853] Chr5:151525861 [GRCh38]
Chr5:150905422 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.188C>T (p.Ala63Val) single nucleotide variant not provided [RCV003697608] Chr5:151568744 [GRCh38]
Chr5:150948305 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.12429T>C (p.Ser4143=) single nucleotide variant not provided [RCV003548745] Chr5:151507242 [GRCh38]
Chr5:150886803 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.3301T>C (p.Ser1101Pro) single nucleotide variant not provided [RCV003716655] Chr5:151563598 [GRCh38]
Chr5:150943159 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.3253G>T (p.Asp1085Tyr) single nucleotide variant not provided [RCV003561365]|not specified [RCV004369176] Chr5:151565679 [GRCh38]
Chr5:150945240 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.10978G>T (p.Asp3660Tyr) single nucleotide variant not provided [RCV003670229] Chr5:151521615 [GRCh38]
Chr5:150901176 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.4910C>T (p.Ser1637Phe) single nucleotide variant not provided [RCV003699778] Chr5:151546217 [GRCh38]
Chr5:150925778 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.10274G>A (p.Arg3425Lys) single nucleotide variant not provided [RCV003724030] Chr5:151527268 [GRCh38]
Chr5:150906829 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.10920C>T (p.Pro3640=) single nucleotide variant not provided [RCV003832821] Chr5:151521673 [GRCh38]
Chr5:150901234 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.676C>T (p.Arg226Cys) single nucleotide variant not provided [RCV003725221] Chr5:151568256 [GRCh38]
Chr5:150947817 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.1211T>A (p.Val404Glu) single nucleotide variant not provided [RCV003549961]|not specified [RCV004369005] Chr5:151567721 [GRCh38]
Chr5:150947282 [GRCh37]
Chr5:5q33.1		 benign|likely benign|uncertain significance
NM_001447.3(FAT2):c.7484T>C (p.Met2495Thr) single nucleotide variant not provided [RCV003832383] Chr5:151543643 [GRCh38]
Chr5:150923204 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.8739A>G (p.Gly2913=) single nucleotide variant not provided [RCV003838834] Chr5:151542388 [GRCh38]
Chr5:150921949 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.7701C>T (p.Ala2567=) single nucleotide variant not provided [RCV003717000] Chr5:151543426 [GRCh38]
Chr5:150922987 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.10926G>A (p.Glu3642=) single nucleotide variant not provided [RCV003560434] Chr5:151521667 [GRCh38]
Chr5:150901228 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.1630C>T (p.Arg544Trp) single nucleotide variant not provided [RCV003548160]|not specified [RCV004369041] Chr5:151567302 [GRCh38]
Chr5:150946863 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.5776T>C (p.Ser1926Pro) single nucleotide variant not provided [RCV003837224] Chr5:151545351 [GRCh38]
Chr5:150924912 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.4950C>A (p.Val1650=) single nucleotide variant not provided [RCV003724502] Chr5:151546177 [GRCh38]
Chr5:150925738 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.12367T>C (p.Ser4123Pro) single nucleotide variant not provided [RCV003836282] Chr5:151507304 [GRCh38]
Chr5:150886865 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.9806G>T (p.Arg3269Leu) single nucleotide variant not provided [RCV003837475] Chr5:151531592 [GRCh38]
Chr5:150911153 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.5019C>T (p.Ile1673=) single nucleotide variant not provided [RCV003558900] Chr5:151546108 [GRCh38]
Chr5:150925669 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.9798G>A (p.Leu3266=) single nucleotide variant not provided [RCV003838608] Chr5:151531600 [GRCh38]
Chr5:150911161 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.8179G>C (p.Val2727Leu) single nucleotide variant not provided [RCV003671671] Chr5:151542948 [GRCh38]
Chr5:150922509 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.1047C>T (p.Gly349=) single nucleotide variant not provided [RCV003701780] Chr5:151567885 [GRCh38]
Chr5:150947446 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.1798G>A (p.Glu600Lys) single nucleotide variant not provided [RCV003816197] Chr5:151567134 [GRCh38]
Chr5:150946695 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.682C>T (p.Arg228Trp) single nucleotide variant not provided [RCV003717975] Chr5:151568250 [GRCh38]
Chr5:150947811 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.6952G>A (p.Val2318Ile) single nucleotide variant not provided [RCV003854718] Chr5:151544175 [GRCh38]
Chr5:150923736 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.2571C>T (p.Tyr857=) single nucleotide variant not provided [RCV003717064] Chr5:151566361 [GRCh38]
Chr5:150945922 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.1677C>T (p.Asp559=) single nucleotide variant not provided [RCV003837391] Chr5:151567255 [GRCh38]
Chr5:150946816 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.3546G>A (p.Met1182Ile) single nucleotide variant not provided [RCV003560576] Chr5:151563353 [GRCh38]
Chr5:150942914 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.1311G>A (p.Pro437=) single nucleotide variant not provided [RCV003551030] Chr5:151567621 [GRCh38]
Chr5:150947182 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.12666C>T (p.Leu4222=) single nucleotide variant not provided [RCV003860582] Chr5:151505949 [GRCh38]
Chr5:150885510 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.6107A>G (p.His2036Arg) single nucleotide variant not provided [RCV003726946] Chr5:151545020 [GRCh38]
Chr5:150924581 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.5916C>T (p.Val1972=) single nucleotide variant not provided [RCV003728168] Chr5:151545211 [GRCh38]
Chr5:150924772 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.9704C>T (p.Thr3235Met) single nucleotide variant not provided [RCV003859849] Chr5:151531694 [GRCh38]
Chr5:150911255 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.3057C>T (p.Ile1019=) single nucleotide variant not provided [RCV003732376] Chr5:151565875 [GRCh38]
Chr5:150945436 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.10164+19G>T single nucleotide variant not provided [RCV003820398] Chr5:151527977 [GRCh38]
Chr5:150907538 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.6661A>G (p.Lys2221Glu) single nucleotide variant not provided [RCV003712072] Chr5:151544466 [GRCh38]
Chr5:150924027 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.4918T>C (p.Trp1640Arg) single nucleotide variant not provided [RCV003550590] Chr5:151546209 [GRCh38]
Chr5:150925770 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.12166G>A (p.Val4056Met) single nucleotide variant not provided [RCV003703940] Chr5:151507505 [GRCh38]
Chr5:150887066 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.1710A>G (p.Thr570=) single nucleotide variant not provided [RCV003565039] Chr5:151567222 [GRCh38]
Chr5:150946783 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.12518-2A>T single nucleotide variant not provided [RCV003564456] Chr5:151506099 [GRCh38]
Chr5:150885660 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.10309-3C>A single nucleotide variant not provided [RCV003555220] Chr5:151525968 [GRCh38]
Chr5:150905529 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.12165C>T (p.Ala4055=) single nucleotide variant not provided [RCV003556686] Chr5:151507506 [GRCh38]
Chr5:150887067 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.6270T>A (p.Phe2090Leu) single nucleotide variant not provided [RCV003846771] Chr5:151544857 [GRCh38]
Chr5:150924418 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.1525C>A (p.Pro509Thr) single nucleotide variant not provided [RCV003823987]|not specified [RCV004621918] Chr5:151567407 [GRCh38]
Chr5:150946968 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.9031T>C (p.Cys3011Arg) single nucleotide variant not provided [RCV003859958] Chr5:151540575 [GRCh38]
Chr5:150920136 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.6359C>G (p.Pro2120Arg) single nucleotide variant not provided [RCV003554415]|not specified [RCV004369194] Chr5:151544768 [GRCh38]
Chr5:150924329 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.6585C>T (p.Ala2195=) single nucleotide variant not provided [RCV003676086] Chr5:151544542 [GRCh38]
Chr5:150924103 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.5280G>A (p.Lys1760=) single nucleotide variant not provided [RCV003729993] Chr5:151545847 [GRCh38]
Chr5:150925408 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.3228A>G (p.Gly1076=) single nucleotide variant not provided [RCV003864085] Chr5:151565704 [GRCh38]
Chr5:150945265 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.12751C>G (p.Leu4251Val) single nucleotide variant not provided [RCV003706843] Chr5:151505864 [GRCh38]
Chr5:150885425 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.9963C>T (p.Phe3321=) single nucleotide variant not provided [RCV003735919] Chr5:151529241 [GRCh38]
Chr5:150908802 [GRCh37]
Chr5:5q33.1		 benign
NM_001447.3(FAT2):c.2486T>A (p.Ile829Asn) single nucleotide variant not provided [RCV003675851] Chr5:151566446 [GRCh38]
Chr5:150946007 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.8001C>T (p.Gly2667=) single nucleotide variant not provided [RCV003710681] Chr5:151543126 [GRCh38]
Chr5:150922687 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.9299C>A (p.Thr3100Asn) single nucleotide variant not provided [RCV003733954] Chr5:151534537 [GRCh38]
Chr5:150914098 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.11658G>A (p.Arg3886=) single nucleotide variant not provided [RCV003842153] Chr5:151512412 [GRCh38]
Chr5:150891973 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.10797G>A (p.Ser3599=) single nucleotide variant not provided [RCV003552261] Chr5:151521796 [GRCh38]
Chr5:150901357 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.12075G>A (p.Ala4025=) single nucleotide variant not provided [RCV003734106] Chr5:151507596 [GRCh38]
Chr5:150887157 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.12724C>T (p.Arg4242Cys) single nucleotide variant not provided [RCV003845838] Chr5:151505891 [GRCh38]
Chr5:150885452 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.4846C>G (p.Gln1616Glu) single nucleotide variant not provided [RCV003848200] Chr5:151546281 [GRCh38]
Chr5:150925842 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.4516C>G (p.Leu1506Val) single nucleotide variant not provided [RCV003542242] Chr5:151550652 [GRCh38]
Chr5:150930213 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.2918G>A (p.Arg973Gln) single nucleotide variant not provided [RCV003550969] Chr5:151566014 [GRCh38]
Chr5:150945575 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.890G>A (p.Gly297Glu) single nucleotide variant not provided [RCV003823516] Chr5:151568042 [GRCh38]
Chr5:150947603 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.6918C>T (p.Asp2306=) single nucleotide variant not provided [RCV003734336] Chr5:151544209 [GRCh38]
Chr5:150923770 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.11511C>T (p.Phe3837=) single nucleotide variant not provided [RCV003711725] Chr5:151512559 [GRCh38]
Chr5:150892120 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.4738A>G (p.Met1580Val) single nucleotide variant not provided [RCV003730895]|not specified [RCV004621874] Chr5:151549346 [GRCh38]
Chr5:150928907 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.677G>A (p.Arg226His) single nucleotide variant not provided [RCV003823556] Chr5:151568255 [GRCh38]
Chr5:150947816 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.2294T>C (p.Ile765Thr) single nucleotide variant not provided [RCV003554078] Chr5:151566638 [GRCh38]
Chr5:150946199 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.3029G>A (p.Arg1010His) single nucleotide variant not provided [RCV003720385]|not specified [RCV004374046] Chr5:151565903 [GRCh38]
Chr5:150945464 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.3140C>T (p.Ser1047Leu) single nucleotide variant not provided [RCV003843335] Chr5:151565792 [GRCh38]
Chr5:150945353 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.12336C>T (p.Asn4112=) single nucleotide variant not provided [RCV003563494] Chr5:151507335 [GRCh38]
Chr5:150886896 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.11315A>G (p.Asn3772Ser) single nucleotide variant not provided [RCV003822642] Chr5:151521278 [GRCh38]
Chr5:150900839 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.5553T>G (p.Phe1851Leu) single nucleotide variant not provided [RCV003737604]|not specified [RCV004621890] Chr5:151545574 [GRCh38]
Chr5:150925135 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.5924C>A (p.Ala1975Glu) single nucleotide variant not provided [RCV003869430] Chr5:151545203 [GRCh38]
Chr5:150924764 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.10388C>T (p.Ser3463Leu) single nucleotide variant not provided [RCV003554322] Chr5:151525886 [GRCh38]
Chr5:150905447 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.12589G>A (p.Glu4197Lys) single nucleotide variant not provided [RCV003868001] Chr5:151506026 [GRCh38]
Chr5:150885587 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.9182A>G (p.Asp3061Gly) single nucleotide variant not provided [RCV003867523] Chr5:151537804 [GRCh38]
Chr5:150917365 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.4601T>C (p.Ile1534Thr) single nucleotide variant not provided [RCV003871729] Chr5:151549483 [GRCh38]
Chr5:150929044 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.9891C>T (p.Ser3297=) single nucleotide variant not provided [RCV003720101] Chr5:151529313 [GRCh38]
Chr5:150908874 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.7547T>C (p.Ile2516Thr) single nucleotide variant FAT2-related disorder [RCV004756534]|not provided [RCV003720305]|not specified [RCV004374043] Chr5:151543580 [GRCh38]
Chr5:150923141 [GRCh37]
Chr5:5q33.1		 likely benign|uncertain significance
NM_001447.3(FAT2):c.621G>T (p.Gly207=) single nucleotide variant not provided [RCV003553002] Chr5:151568311 [GRCh38]
Chr5:150947872 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.10593T>C (p.Ala3531=) single nucleotide variant not provided [RCV003737966] Chr5:151522000 [GRCh38]
Chr5:150901561 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.9605G>A (p.Gly3202Asp) single nucleotide variant not provided [RCV003721767]|not specified [RCV004373952] Chr5:151531793 [GRCh38]
Chr5:150911354 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.2496C>T (p.Asp832=) single nucleotide variant not provided [RCV003542069] Chr5:151566436 [GRCh38]
Chr5:150945997 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.7709C>T (p.Thr2570Met) single nucleotide variant not provided [RCV003737057] Chr5:151543418 [GRCh38]
Chr5:150922979 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.8952C>T (p.Val2984=) single nucleotide variant not provided [RCV003868998] Chr5:151540654 [GRCh38]
Chr5:150920215 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.4983A>G (p.Ser1661=) single nucleotide variant FAT2-related disorder [RCV003919357]|not provided [RCV003734463] Chr5:151546144 [GRCh38]
Chr5:150925705 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.1139G>A (p.Arg380His) single nucleotide variant not provided [RCV003864805] Chr5:151567793 [GRCh38]
Chr5:150947354 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.503G>A (p.Cys168Tyr) single nucleotide variant FAT2-related disorder [RCV003919340]|not provided [RCV003730601]|not specified [RCV004374113] Chr5:151568429 [GRCh38]
Chr5:150947990 [GRCh37]
Chr5:5q33.1		 likely benign|uncertain significance
NM_001447.3(FAT2):c.3468G>T (p.Val1156=) single nucleotide variant not provided [RCV003860620] Chr5:151563431 [GRCh38]
Chr5:150942992 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.319C>T (p.Leu107=) single nucleotide variant not provided [RCV003684919] Chr5:151568613 [GRCh38]
Chr5:150948174 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.8089A>G (p.Thr2697Ala) single nucleotide variant not provided [RCV003676940] Chr5:151543038 [GRCh38]
Chr5:150922599 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.2015A>G (p.Lys672Arg) single nucleotide variant not provided [RCV003551490]|not specified [RCV004366468] Chr5:151566917 [GRCh38]
Chr5:150946478 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.12251C>G (p.Pro4084Arg) single nucleotide variant not provided [RCV003682136] Chr5:151507420 [GRCh38]
Chr5:150886981 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.3383C>T (p.Thr1128Met) single nucleotide variant not provided [RCV003734805] Chr5:151563516 [GRCh38]
Chr5:150943077 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.9271G>A (p.Gly3091Ser) single nucleotide variant not provided [RCV003737251] Chr5:151534565 [GRCh38]
Chr5:150914126 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.570G>A (p.Arg190=) single nucleotide variant not provided [RCV003722555] Chr5:151568362 [GRCh38]
Chr5:150947923 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.6000C>T (p.Thr2000=) single nucleotide variant not provided [RCV003737270] Chr5:151545127 [GRCh38]
Chr5:150924688 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.1262T>C (p.Met421Thr) single nucleotide variant not provided [RCV003721520] Chr5:151567670 [GRCh38]
Chr5:150947231 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.7715A>C (p.Lys2572Thr) single nucleotide variant not provided [RCV003733284] Chr5:151543412 [GRCh38]
Chr5:150922973 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.950T>C (p.Val317Ala) single nucleotide variant not provided [RCV003733285] Chr5:151567982 [GRCh38]
Chr5:150947543 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.1821A>T (p.Leu607=) single nucleotide variant not provided [RCV003729933] Chr5:151567111 [GRCh38]
Chr5:150946672 [GRCh37]
Chr5:5q33.1		 benign
NM_001447.3(FAT2):c.8202C>T (p.Ser2734=) single nucleotide variant not provided [RCV003847498] Chr5:151542925 [GRCh38]
Chr5:150922486 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.3703G>A (p.Val1235Ile) single nucleotide variant not provided [RCV003721613] Chr5:151554604 [GRCh38]
Chr5:150934165 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.4710C>T (p.Pro1570=) single nucleotide variant not provided [RCV003721742] Chr5:151549374 [GRCh38]
Chr5:150928935 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.10371G>T (p.Glu3457Asp) single nucleotide variant not provided [RCV003676303] Chr5:151525903 [GRCh38]
Chr5:150905464 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.6584C>T (p.Ala2195Val) single nucleotide variant not provided [RCV003860394] Chr5:151544543 [GRCh38]
Chr5:150924104 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.12844C>T (p.Arg4282Trp) single nucleotide variant not provided [RCV003552632] Chr5:151505771 [GRCh38]
Chr5:150885332 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.8777C>T (p.Ala2926Val) single nucleotide variant not provided [RCV003734077] Chr5:151542350 [GRCh38]
Chr5:150921911 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.1821A>G (p.Leu607=) single nucleotide variant not provided [RCV003734032] Chr5:151567111 [GRCh38]
Chr5:150946672 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.8780C>A (p.Thr2927Asn) single nucleotide variant not provided [RCV003567579] Chr5:151542347 [GRCh38]
Chr5:150921908 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.7053C>T (p.Ala2351=) single nucleotide variant not provided [RCV003820217] Chr5:151544074 [GRCh38]
Chr5:150923635 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.2601C>T (p.Ser867=) single nucleotide variant not provided [RCV003852822] Chr5:151566331 [GRCh38]
Chr5:150945892 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.464T>A (p.Val155Asp) single nucleotide variant not provided [RCV003553135] Chr5:151568468 [GRCh38]
Chr5:150948029 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.4872C>T (p.Ala1624=) single nucleotide variant not provided [RCV003680746] Chr5:151546255 [GRCh38]
Chr5:150925816 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.2917C>T (p.Arg973Trp) single nucleotide variant not provided [RCV003733406] Chr5:151566015 [GRCh38]
Chr5:150945576 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.8724T>C (p.Ser2908=) single nucleotide variant not provided [RCV003732743] Chr5:151542403 [GRCh38]
Chr5:150921964 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.12901C>G (p.Arg4301Gly) single nucleotide variant not provided [RCV003845893] Chr5:151505714 [GRCh38]
Chr5:150885275 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.4972C>G (p.Pro1658Ala) single nucleotide variant not provided [RCV003859398] Chr5:151546155 [GRCh38]
Chr5:150925716 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.1804G>A (p.Val602Ile) single nucleotide variant not provided [RCV003732271] Chr5:151567128 [GRCh38]
Chr5:150946689 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.11579T>C (p.Met3860Thr) single nucleotide variant not provided [RCV003820700]|not specified [RCV004366790] Chr5:151512491 [GRCh38]
Chr5:150892052 [GRCh37]
Chr5:5q33.1		 likely benign|uncertain significance
NM_001447.3(FAT2):c.4320C>T (p.Asn1440=) single nucleotide variant not provided [RCV003681258] Chr5:151550848 [GRCh38]
Chr5:150930409 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.2649C>T (p.Arg883=) single nucleotide variant not provided [RCV003542233] Chr5:151566283 [GRCh38]
Chr5:150945844 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.4614C>T (p.Phe1538=) single nucleotide variant FAT2-related disorder [RCV003929288]|not provided [RCV003703941] Chr5:151549470 [GRCh38]
Chr5:150929031 [GRCh37]
Chr5:5q33.1		 benign|likely benign
NM_001447.3(FAT2):c.10988G>A (p.Arg3663Gln) single nucleotide variant not provided [RCV003707302] Chr5:151521605 [GRCh38]
Chr5:150901166 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.3945G>A (p.Thr1315=) single nucleotide variant not provided [RCV003843549] Chr5:151554362 [GRCh38]
Chr5:150933923 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.11103C>T (p.Ser3701=) single nucleotide variant not provided [RCV003550537] Chr5:151521490 [GRCh38]
Chr5:150901051 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.10508C>T (p.Ala3503Val) single nucleotide variant not provided [RCV003863383] Chr5:151522085 [GRCh38]
Chr5:150901646 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.1829T>A (p.Phe610Tyr) single nucleotide variant not provided [RCV003728542] Chr5:151567103 [GRCh38]
Chr5:150946664 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.4138T>C (p.Phe1380Leu) single nucleotide variant not provided [RCV003709686] Chr5:151553195 [GRCh38]
Chr5:150932756 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.9272G>A (p.Gly3091Asp) single nucleotide variant not provided [RCV003553838] Chr5:151534564 [GRCh38]
Chr5:150914125 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.9164C>T (p.Ala3055Val) single nucleotide variant not provided [RCV003568348] Chr5:151537822 [GRCh38]
Chr5:150917383 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.6654T>C (p.Thr2218=) single nucleotide variant not provided [RCV003728895] Chr5:151544473 [GRCh38]
Chr5:150924034 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.10236C>G (p.Ile3412Met) single nucleotide variant not provided [RCV003848325]|not specified [RCV004366929] Chr5:151527306 [GRCh38]
Chr5:150906867 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.8066C>A (p.Pro2689Gln) single nucleotide variant not provided [RCV003708850] Chr5:151543061 [GRCh38]
Chr5:150922622 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.11865A>T (p.Thr3955=) single nucleotide variant not provided [RCV003553677] Chr5:151512205 [GRCh38]
Chr5:150891766 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.3022C>T (p.Leu1008=) single nucleotide variant not provided [RCV003568230] Chr5:151565910 [GRCh38]
Chr5:150945471 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.9609C>T (p.Thr3203=) single nucleotide variant not provided [RCV003844067] Chr5:151531789 [GRCh38]
Chr5:150911350 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.7922G>T (p.Gly2641Val) single nucleotide variant not provided [RCV003847060] Chr5:151543205 [GRCh38]
Chr5:150922766 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.3403C>A (p.Pro1135Thr) single nucleotide variant not provided [RCV003857696] Chr5:151563496 [GRCh38]
Chr5:150943057 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.3632A>C (p.Glu1211Ala) single nucleotide variant Spinocerebellar ataxia 45 [RCV003989958] Chr5:151556345 [GRCh38]
Chr5:150935906 [GRCh37]
Chr5:5q33.1		 likely pathogenic
NM_001447.3(FAT2):c.7018G>A (p.Glu2340Lys) single nucleotide variant Spinocerebellar ataxia 45 [RCV003991724] Chr5:151544109 [GRCh38]
Chr5:150923670 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.11485C>T (p.Leu3829=) single nucleotide variant not provided [RCV003887252] Chr5:151512585 [GRCh38]
Chr5:150892146 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.910A>G (p.Lys304Glu) single nucleotide variant FAT2-related disorder [RCV003982812] Chr5:151568022 [GRCh38]
Chr5:150947583 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.4468G>C (p.Asp1490His) single nucleotide variant not provided [RCV004547042] Chr5:151550700 [GRCh38]
Chr5:150930261 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.11661C>T (p.Pro3887=) single nucleotide variant FAT2-related disorder [RCV003977066] Chr5:151512409 [GRCh38]
Chr5:150891970 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.9261G>A (p.Ala3087=) single nucleotide variant FAT2-related disorder [RCV003936774] Chr5:151534575 [GRCh38]
Chr5:150914136 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.6975T>C (p.Asn2325=) single nucleotide variant FAT2-related disorder [RCV003947396] Chr5:151544152 [GRCh38]
Chr5:150923713 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.2497A>G (p.Thr833Ala) single nucleotide variant FAT2-related disorder [RCV003931476] Chr5:151566435 [GRCh38]
Chr5:150945996 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.8714G>A (p.Arg2905Gln) single nucleotide variant FAT2-related disorder [RCV003944757]|not specified [RCV004369861] Chr5:151542413 [GRCh38]
Chr5:150921974 [GRCh37]
Chr5:5q33.1		 benign|likely benign
NM_001447.3(FAT2):c.2466C>T (p.Pro822=) single nucleotide variant FAT2-related disorder [RCV003927014] Chr5:151566466 [GRCh38]
Chr5:150946027 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.11757C>T (p.Asn3919=) single nucleotide variant FAT2-related disorder [RCV003974223] Chr5:151512313 [GRCh38]
Chr5:150891874 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.8184G>C (p.Arg2728=) single nucleotide variant not provided [RCV004546367] Chr5:151542943 [GRCh38]
Chr5:150922504 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.3367G>A (p.Val1123Ile) single nucleotide variant FAT2-related disorder [RCV003934258] Chr5:151563532 [GRCh38]
Chr5:150943093 [GRCh37]
Chr5:5q33.1		 benign
NM_001447.3(FAT2):c.8577A>T (p.Thr2859=) single nucleotide variant not provided [RCV004546260] Chr5:151542550 [GRCh38]
Chr5:150922111 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.4970C>T (p.Ala1657Val) single nucleotide variant not provided [RCV003886029] Chr5:151546157 [GRCh38]
Chr5:150925718 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.1018G>A (p.Gly340Ser) single nucleotide variant not provided [RCV003885016] Chr5:151567914 [GRCh38]
Chr5:150947475 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.12468C>T (p.His4156=) single nucleotide variant FAT2-related disorder [RCV003941700] Chr5:151507203 [GRCh38]
Chr5:150886764 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.10390T>C (p.Phe3464Leu) single nucleotide variant FAT2-related disorder [RCV003979018] Chr5:151525884 [GRCh38]
Chr5:150905445 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.10577A>G (p.His3526Arg) single nucleotide variant not specified [RCV004385988] Chr5:151522016 [GRCh38]
Chr5:150901577 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.1087G>A (p.Glu363Lys) single nucleotide variant not specified [RCV004385990] Chr5:151567845 [GRCh38]
Chr5:150947406 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.11356T>A (p.Tyr3786Asn) single nucleotide variant not specified [RCV004385996] Chr5:151517727 [GRCh38]
Chr5:150897288 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.1159A>C (p.Thr387Pro) single nucleotide variant not specified [RCV004385997] Chr5:151567773 [GRCh38]
Chr5:150947334 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.4025C>T (p.Pro1342Leu) single nucleotide variant not specified [RCV004386009] Chr5:151553308 [GRCh38]
Chr5:150932869 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.5030C>T (p.Ser1677Phe) single nucleotide variant not specified [RCV004386015] Chr5:151546097 [GRCh38]
Chr5:150925658 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.5979G>T (p.Gln1993His) single nucleotide variant not specified [RCV004386018] Chr5:151545148 [GRCh38]
Chr5:150924709 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.6688C>T (p.Pro2230Ser) single nucleotide variant not specified [RCV004386022] Chr5:151544439 [GRCh38]
Chr5:150924000 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.8374G>A (p.Asp2792Asn) single nucleotide variant not specified [RCV004386026] Chr5:151542753 [GRCh38]
Chr5:150922314 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.8651T>C (p.Ile2884Thr) single nucleotide variant not specified [RCV004386027] Chr5:151542476 [GRCh38]
Chr5:150922037 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.5662G>A (p.Gly1888Ser) single nucleotide variant Spinocerebellar ataxia 45 [RCV004566533] Chr5:151545465 [GRCh38]
Chr5:150925026 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.9446T>C (p.Val3149Ala) single nucleotide variant not provided [RCV004585471] Chr5:151531952 [GRCh38]
Chr5:150911513 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.11156G>A (p.Arg3719Gln) single nucleotide variant not specified [RCV004385992] Chr5:151521437 [GRCh38]
Chr5:150900998 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.11192C>A (p.Thr3731Asn) single nucleotide variant not specified [RCV004385993] Chr5:151521401 [GRCh38]
Chr5:150900962 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.12304G>A (p.Glu4102Lys) single nucleotide variant not specified [RCV004385999] Chr5:151507367 [GRCh38]
Chr5:150886928 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.12785G>A (p.Arg4262His) single nucleotide variant not specified [RCV004386001] Chr5:151505830 [GRCh38]
Chr5:150885391 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.12959C>T (p.Ala4320Val) single nucleotide variant not specified [RCV004386002] Chr5:151505656 [GRCh38]
Chr5:150885217 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.374C>T (p.Thr125Ile) single nucleotide variant not specified [RCV004386007] Chr5:151568558 [GRCh38]
Chr5:150948119 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.4207G>A (p.Val1403Ile) single nucleotide variant not specified [RCV004386011] Chr5:151551556 [GRCh38]
Chr5:150931117 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.5C>T (p.Thr2Ile) single nucleotide variant not specified [RCV004386019] Chr5:151568927 [GRCh38]
Chr5:150948488 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.6398A>G (p.Tyr2133Cys) single nucleotide variant not specified [RCV004386020] Chr5:151544729 [GRCh38]
Chr5:150924290 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.6443G>A (p.Gly2148Glu) single nucleotide variant not specified [RCV004386021] Chr5:151544684 [GRCh38]
Chr5:150924245 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.9089T>C (p.Ile3030Thr) single nucleotide variant not specified [RCV004386030] Chr5:151537897 [GRCh38]
Chr5:150917458 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.11032G>A (p.Ala3678Thr) single nucleotide variant not specified [RCV004385991] Chr5:151521561 [GRCh38]
Chr5:150901122 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.1301G>A (p.Arg434Lys) single nucleotide variant not specified [RCV004386003] Chr5:151567631 [GRCh38]
Chr5:150947192 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.6178A>G (p.Ile2060Val) single nucleotide variant not specified [RCV004587958] Chr5:151544949 [GRCh38]
Chr5:150924510 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.10006G>A (p.Val3336Met) single nucleotide variant not specified [RCV004385986] Chr5:151529198 [GRCh38]
Chr5:150908759 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.10775G>A (p.Gly3592Asp) single nucleotide variant not specified [RCV004385989] Chr5:151521818 [GRCh38]
Chr5:150901379 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.11249C>T (p.Thr3750Met) single nucleotide variant not specified [RCV004385994] Chr5:151521344 [GRCh38]
Chr5:150900905 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.11331G>T (p.Arg3777Ser) single nucleotide variant not specified [RCV004385995] Chr5:151517752 [GRCh38]
Chr5:150897313 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.12283A>G (p.Thr4095Ala) single nucleotide variant not specified [RCV004385998] Chr5:151507388 [GRCh38]
Chr5:150886949 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.12611C>T (p.Pro4204Leu) single nucleotide variant not specified [RCV004386000] Chr5:151506004 [GRCh38]
Chr5:150885565 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.190G>A (p.Glu64Lys) single nucleotide variant not specified [RCV004386004] Chr5:151568742 [GRCh38]
Chr5:150948303 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.2270G>A (p.Gly757Asp) single nucleotide variant not specified [RCV004386005] Chr5:151566662 [GRCh38]
Chr5:150946223 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.3262A>G (p.Met1088Val) single nucleotide variant not specified [RCV004386006] Chr5:151563637 [GRCh38]
Chr5:150943198 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.4198G>A (p.Gly1400Ser) single nucleotide variant not specified [RCV004386010] Chr5:151551565 [GRCh38]
Chr5:150931126 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.4239G>C (p.Arg1413Ser) single nucleotide variant not specified [RCV004386012] Chr5:151551524 [GRCh38]
Chr5:150931085 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.4391G>A (p.Gly1464Glu) single nucleotide variant not specified [RCV004386013] Chr5:151550777 [GRCh38]
Chr5:150930338 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.4712G>A (p.Gly1571Asp) single nucleotide variant not specified [RCV004386014] Chr5:151549372 [GRCh38]
Chr5:150928933 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.5560A>G (p.Arg1854Gly) single nucleotide variant not specified [RCV004386016] Chr5:151545567 [GRCh38]
Chr5:150925128 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.5645T>C (p.Val1882Ala) single nucleotide variant not specified [RCV004386017] Chr5:151545482 [GRCh38]
Chr5:150925043 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.7141C>A (p.Gln2381Lys) single nucleotide variant not specified [RCV004386024] Chr5:151543986 [GRCh38]
Chr5:150923547 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.8033G>A (p.Arg2678Gln) single nucleotide variant not specified [RCV004386025] Chr5:151543094 [GRCh38]
Chr5:150922655 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.8773G>A (p.Val2925Met) single nucleotide variant not specified [RCV004386028] Chr5:151542354 [GRCh38]
Chr5:150921915 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.878G>T (p.Gly293Val) single nucleotide variant not specified [RCV004386029] Chr5:151568054 [GRCh38]
Chr5:150947615 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.2449G>A (p.Ala817Thr) single nucleotide variant not specified [RCV004620920] Chr5:151566483 [GRCh38]
Chr5:150946044 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.492G>C (p.Lys164Asn) single nucleotide variant not specified [RCV004620934] Chr5:151568440 [GRCh38]
Chr5:150948001 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.9944A>G (p.Asn3315Ser) single nucleotide variant not provided [RCV004598795] Chr5:151529260 [GRCh38]
Chr5:150908821 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.11758G>A (p.Glu3920Lys) single nucleotide variant not specified [RCV004620915] Chr5:151512312 [GRCh38]
Chr5:150891873 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.4661G>A (p.Arg1554His) single nucleotide variant not specified [RCV004620923] Chr5:151549423 [GRCh38]
Chr5:150928984 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.10784G>A (p.Arg3595His) single nucleotide variant not specified [RCV004620925] Chr5:151521809 [GRCh38]
Chr5:150901370 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.6151G>A (p.Val2051Met) single nucleotide variant not specified [RCV004702701] Chr5:151544976 [GRCh38]
Chr5:150924537 [GRCh37]
Chr5:5q33.1		 uncertain significance
NC_000005.9:g.(?_150632778)_(151304110_?)dup duplication Hereditary hyperekplexia [RCV004578970] Chr5:150632778..151304110 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.9971A>T (p.Asp3324Val) single nucleotide variant not specified [RCV004620918] Chr5:151529233 [GRCh38]
Chr5:150908794 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.9224G>A (p.Arg3075Gln) single nucleotide variant not specified [RCV004620924] Chr5:151534612 [GRCh38]
Chr5:150914173 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.9535C>T (p.Pro3179Ser) single nucleotide variant not specified [RCV004620931] Chr5:151531863 [GRCh38]
Chr5:150911424 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.1618T>A (p.Ser540Thr) single nucleotide variant not specified [RCV004620937] Chr5:151567314 [GRCh38]
Chr5:150946875 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.6725C>T (p.Thr2242Ile) single nucleotide variant not specified [RCV004689485] Chr5:151544402 [GRCh38]
Chr5:150923963 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.5144A>G (p.Gln1715Arg) single nucleotide variant not provided [RCV004585783] Chr5:151545983 [GRCh38]
Chr5:150925544 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.436C>T (p.Pro146Ser) single nucleotide variant Spinocerebellar ataxia 45 [RCV004595169] Chr5:151568496 [GRCh38]
Chr5:150948057 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.9884G>A (p.Arg3295Gln) single nucleotide variant not specified [RCV004620916] Chr5:151529320 [GRCh38]
Chr5:150908881 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.1856T>C (p.Ile619Thr) single nucleotide variant not specified [RCV004620917] Chr5:151567076 [GRCh38]
Chr5:150946637 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.10629T>A (p.Asp3543Glu) single nucleotide variant not specified [RCV004620922] Chr5:151521964 [GRCh38]
Chr5:150901525 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.2566C>T (p.Arg856Cys) single nucleotide variant not specified [RCV004620927] Chr5:151566366 [GRCh38]
Chr5:150945927 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.6026C>T (p.Thr2009Ile) single nucleotide variant not specified [RCV004620932] Chr5:151545101 [GRCh38]
Chr5:150924662 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.6102C>G (p.Asp2034Glu) single nucleotide variant not specified [RCV004620933] Chr5:151545025 [GRCh38]
Chr5:150924586 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.6029A>T (p.Asp2010Val) single nucleotide variant not specified [RCV004620935] Chr5:151545098 [GRCh38]
Chr5:150924659 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.4835T>C (p.Ile1612Thr) single nucleotide variant not specified [RCV004620926] Chr5:151546292 [GRCh38]
Chr5:150925853 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.10322T>C (p.Ile3441Thr) single nucleotide variant not specified [RCV004620928] Chr5:151525952 [GRCh38]
Chr5:150905513 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.11533C>T (p.Arg3845Cys) single nucleotide variant not specified [RCV004620930] Chr5:151512537 [GRCh38]
Chr5:150892098 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.3488A>T (p.Asp1163Val) single nucleotide variant not specified [RCV004620939] Chr5:151563411 [GRCh38]
Chr5:150942972 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.2642T>C (p.Leu881Pro) single nucleotide variant not specified [RCV004620936] Chr5:151566290 [GRCh38]
Chr5:150945851 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.455C>T (p.Ser152Leu) single nucleotide variant not provided [RCV004575046] Chr5:151568477 [GRCh38]
Chr5:150948038 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.3064G>T (p.Asp1022Tyr) single nucleotide variant not provided [RCV004598815] Chr5:151565868 [GRCh38]
Chr5:150945429 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.12845G>A (p.Arg4282Gln) single nucleotide variant not specified [RCV004620919] Chr5:151505770 [GRCh38]
Chr5:150885331 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.10688C>T (p.Thr3563Met) single nucleotide variant not specified [RCV004620921] Chr5:151521905 [GRCh38]
Chr5:150901466 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.2626G>T (p.Val876Phe) single nucleotide variant not specified [RCV004620938] Chr5:151566306 [GRCh38]
Chr5:150945867 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.12720A>G (p.Pro4240=) single nucleotide variant not specified [RCV004702705] Chr5:151505895 [GRCh38]
Chr5:150885456 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.9504G>A (p.Val3168=) single nucleotide variant not specified [RCV004702742] Chr5:151531894 [GRCh38]
Chr5:150911455 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.6590G>C (p.Ser2197Thr) single nucleotide variant not provided [RCV004810470] Chr5:151544537 [GRCh38]
Chr5:150924098 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.3850G>A (p.Glu1284Lys) single nucleotide variant not provided [RCV004810972] Chr5:151554457 [GRCh38]
Chr5:150934018 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.6204C>G (p.Pro2068=) single nucleotide variant not provided [RCV004722644] Chr5:151544923 [GRCh38]
Chr5:150924484 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.12518-15G>A single nucleotide variant not specified [RCV004699953] Chr5:151506112 [GRCh38]
Chr5:150885673 [GRCh37]
Chr5:5q33.1		 likely benign
NM_001447.3(FAT2):c.10531C>T (p.Leu3511Phe) single nucleotide variant not specified [RCV004702717] Chr5:151522062 [GRCh38]
Chr5:150901623 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.1120T>A (p.Phe374Ile) single nucleotide variant not provided [RCV004811387] Chr5:151567812 [GRCh38]
Chr5:150947373 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.4391G>C (p.Gly1464Ala) single nucleotide variant not provided [RCV004812131] Chr5:151550777 [GRCh38]
Chr5:150930338 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.10678C>G (p.Pro3560Ala) single nucleotide variant not specified [RCV004766791] Chr5:151521915 [GRCh38]
Chr5:150901476 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.7652G>A (p.Arg2551Lys) single nucleotide variant Spinocerebellar ataxia 45 [RCV004785857] Chr5:151543475 [GRCh38]
Chr5:150923036 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.7028A>G (p.Gln2343Arg) single nucleotide variant not specified [RCV004700141] Chr5:151544099 [GRCh38]
Chr5:150923660 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_001447.3(FAT2):c.1356del (p.Asn452fs) deletion not specified [RCV004703161] Chr5:151567576 [GRCh38]
Chr5:150947137 [GRCh37]
Chr5:5q33.1		 uncertain significance
miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR542hsa-miR-542-5pMirtarbaseexternal_infoCLASHFunctional MTI (Weak)23622248

Predicted Target Of
Summary Value
Count of predictions:1651
Count of miRNA genes:603
Interacting mature miRNAs:661
Transcripts:ENST00000261800, ENST00000520200
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
597344776GWAS1440850_Hneutrophil measurement QTL GWAS1440850 (human)3e-24neutrophil measurement5151514872151514873Human
597344393GWAS1440467_Hcolor vision disorder QTL GWAS1440467 (human)0.000002color vision disorder5151591280151591281Human
597337407GWAS1433481_Hbreast density QTL GWAS1433481 (human)0.00001breast density5151553786151553787Human
597325772GWAS1421846_Hcolor vision disorder QTL GWAS1421846 (human)0.000006color vision disorder5151591280151591281Human
597205700GWAS1301774_Hprotein measurement QTL GWAS1301774 (human)1e-09protein measurement5151573158151573159Human
597353861GWAS1449935_Hbody height QTL GWAS1449935 (human)1e-08body height (VT:0001253)body height (CMO:0000106)5151560146151560147Human
597331717GWAS1427791_Hable to hear with hearing aids QTL GWAS1427791 (human)0.0000004able to hear with hearing aids5151571223151571224Human

Markers in Region
SHGC-111788  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375150,916,857 - 150,917,057UniSTSGRCh37
Build 365150,897,050 - 150,897,250RGDNCBI36
Celera5146,998,279 - 146,998,472RGD
Cytogenetic Map5q33.1UniSTS
HuRef5146,062,284 - 146,062,474UniSTS
TNG Radiation Hybrid Map570296.0UniSTS
bac5571T  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375150,930,924 - 150,931,100UniSTSGRCh37
Build 365150,911,117 - 150,911,293RGDNCBI36
Celera5147,012,335 - 147,012,511RGD
Cytogenetic Map5q33.1UniSTS
HuRef5146,076,341 - 146,076,517UniSTS
SHGC-141492  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375150,896,091 - 150,896,231UniSTSGRCh37
Build 365150,876,284 - 150,876,424RGDNCBI36
Celera5146,977,504 - 146,977,644RGD
Cytogenetic Map5q33.1UniSTS
HuRef5146,041,492 - 146,041,632UniSTS
TNG Radiation Hybrid Map570286.0UniSTS
FAT2__7640  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375150,883,499 - 150,884,349UniSTSGRCh37
Build 365150,863,692 - 150,864,542RGDNCBI36
Celera5146,964,908 - 146,965,758RGD
HuRef5146,028,896 - 146,029,746UniSTS
Cda1id10  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375150,883,772 - 150,883,884UniSTSGRCh37
Build 365150,863,965 - 150,864,077RGDNCBI36
Celera5146,965,181 - 146,965,293RGD
Cytogenetic Map5q33.1UniSTS
HuRef5146,029,169 - 146,029,281UniSTS
GeneMap99-GB4 RH Map5584.07UniSTS
NCBI RH Map5891.6UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
1204 2359 2788 2228 4908 1591 2144 4 503 1805 345 2254 6926 6305 21 3681 808 1707 1531 171

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_046979 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001447 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011537600 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011537603 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017009224 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017009225 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017009227 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047416934 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054352048 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054352049 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054352050 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054352051 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054352052 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054352053 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001742039 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002956152 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_007058588 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008487096 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB011535 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB160984 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB177851 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC011337 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC011374 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC034205 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF231022 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK308619 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL157443 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC039143 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471062 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068273 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HF583642 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000261800   ⟹   ENSP00000261800
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5151,504,092 - 151,591,331 (-)Ensembl
Ensembl Acc Id: ENST00000520200   ⟹   ENSP00000429678
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5151,504,093 - 151,531,972 (-)Ensembl
RefSeq Acc Id: NM_001447   ⟹   NP_001438
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385151,504,092 - 151,591,331 (-)NCBI
GRCh375150,883,653 - 150,948,505 (-)RGD
Build 365150,863,847 - 150,928,698 (-)NCBI Archive
Celera5146,965,062 - 147,029,916 (-)RGD
HuRef5146,029,050 - 146,093,922 (-)ENTREZGENE
CHM1_15150,316,083 - 150,380,950 (-)NCBI
T2T-CHM13v2.05152,043,070 - 152,130,323 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011537600   ⟹   XP_011535902
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385151,504,092 - 151,594,819 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011537603   ⟹   XP_011535905
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385151,504,092 - 151,589,626 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017009224   ⟹   XP_016864713
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385151,504,092 - 151,593,246 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017009225   ⟹   XP_016864714
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385151,504,092 - 151,594,819 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017009227   ⟹   XP_016864716
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385151,534,549 - 151,591,331 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047416934   ⟹   XP_047272890
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385151,507,363 - 151,591,331 (-)NCBI
RefSeq Acc Id: XM_054352048   ⟹   XP_054208023
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.05152,043,070 - 152,133,808 (-)NCBI
RefSeq Acc Id: XM_054352049   ⟹   XP_054208024
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.05152,043,070 - 152,132,235 (-)NCBI
RefSeq Acc Id: XM_054352050   ⟹   XP_054208025
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.05152,043,070 - 152,133,808 (-)NCBI
RefSeq Acc Id: XM_054352051   ⟹   XP_054208026
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.05152,043,070 - 152,128,618 (-)NCBI
RefSeq Acc Id: XM_054352052   ⟹   XP_054208027
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.05152,046,341 - 152,130,323 (-)NCBI
RefSeq Acc Id: XM_054352053   ⟹   XP_054208028
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.05152,073,543 - 152,130,323 (-)NCBI
RefSeq Acc Id: XR_007058588
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385151,540,676 - 151,591,331 (-)NCBI
RefSeq Acc Id: XR_008487096
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.05152,079,662 - 152,130,323 (-)NCBI
RefSeq Acc Id: NP_001438   ⟸   NM_001447
- Peptide Label: precursor
- UniProtKB: Q9NYQ8 (UniProtKB/Swiss-Prot),   O75091 (UniProtKB/Swiss-Prot),   Q9NSR7 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011535902   ⟸   XM_011537600
- Peptide Label: isoform X1
- UniProtKB: Q9NYQ8 (UniProtKB/Swiss-Prot),   O75091 (UniProtKB/Swiss-Prot),   Q9NSR7 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011535905   ⟸   XM_011537603
- Peptide Label: isoform X1
- UniProtKB: Q9NYQ8 (UniProtKB/Swiss-Prot),   O75091 (UniProtKB/Swiss-Prot),   Q9NSR7 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016864714   ⟸   XM_017009225
- Peptide Label: isoform X1
- UniProtKB: Q9NYQ8 (UniProtKB/Swiss-Prot),   O75091 (UniProtKB/Swiss-Prot),   Q9NSR7 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016864713   ⟸   XM_017009224
- Peptide Label: isoform X1
- UniProtKB: Q9NYQ8 (UniProtKB/Swiss-Prot),   O75091 (UniProtKB/Swiss-Prot),   Q9NSR7 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016864716   ⟸   XM_017009227
- Peptide Label: isoform X3
- Sequence:
Ensembl Acc Id: ENSP00000429678   ⟸   ENST00000520200
Ensembl Acc Id: ENSP00000261800   ⟸   ENST00000261800
RefSeq Acc Id: XP_047272890   ⟸   XM_047416934
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054208025   ⟸   XM_054352050
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054208023   ⟸   XM_054352048
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054208024   ⟸   XM_054352049
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054208026   ⟸   XM_054352051
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054208027   ⟸   XM_054352052
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054208028   ⟸   XM_054352053
- Peptide Label: isoform X3
Protein Domains
Cadherin   EGF-like   Laminin G   Laminin G-like

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9NYQ8-F1-model_v2 AlphaFold Q9NYQ8 1-1400 view protein structure
AF-Q9NYQ8-F2-model_v2 AlphaFold Q9NYQ8 201-1600 view protein structure
AF-Q9NYQ8-F3-model_v2 AlphaFold Q9NYQ8 401-1800 view protein structure
AF-Q9NYQ8-F4-model_v2 AlphaFold Q9NYQ8 601-2000 view protein structure
AF-Q9NYQ8-F5-model_v2 AlphaFold Q9NYQ8 801-2200 view protein structure
AF-Q9NYQ8-F6-model_v2 AlphaFold Q9NYQ8 1001-2400 view protein structure
AF-Q9NYQ8-F7-model_v2 AlphaFold Q9NYQ8 1201-2600 view protein structure
AF-Q9NYQ8-F8-model_v2 AlphaFold Q9NYQ8 1401-2800 view protein structure
AF-Q9NYQ8-F9-model_v2 AlphaFold Q9NYQ8 1601-3000 view protein structure
AF-Q9NYQ8-F10-model_v2 AlphaFold Q9NYQ8 1801-3200 view protein structure
AF-Q9NYQ8-F11-model_v2 AlphaFold Q9NYQ8 2001-3400 view protein structure
AF-Q9NYQ8-F12-model_v2 AlphaFold Q9NYQ8 2201-3600 view protein structure
AF-Q9NYQ8-F13-model_v2 AlphaFold Q9NYQ8 2401-3800 view protein structure
AF-Q9NYQ8-F14-model_v2 AlphaFold Q9NYQ8 2601-4000 view protein structure
AF-Q9NYQ8-F15-model_v2 AlphaFold Q9NYQ8 2801-4200 view protein structure
AF-Q9NYQ8-F16-model_v2 AlphaFold Q9NYQ8 3001-4349 view protein structure

Promoters
RGD ID:6871326
Promoter ID:EPDNEW_H8828
Type:initiation region
Name:FAT2_2
Description:FAT atypical cadherin 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H8829  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh385151,571,411 - 151,571,471EPDNEW
RGD ID:6871328
Promoter ID:EPDNEW_H8829
Type:initiation region
Name:FAT2_1
Description:FAT atypical cadherin 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H8828  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh385151,591,317 - 151,591,377EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:3596 AgrOrtholog
COSMIC FAT2 COSMIC
Ensembl Genes ENSG00000086570 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000261800 ENTREZGENE
  ENST00000261800.6 UniProtKB/Swiss-Prot
  ENST00000520200.5 UniProtKB/TrEMBL
Gene3D-CATH 2.60.120.200 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cadherins UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Laminin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000086570 GTEx
HGNC ID HGNC:3596 ENTREZGENE
Human Proteome Map FAT2 Human Proteome Map
InterPro Cadherin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cadherin-like_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cadherin-like_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cadherin_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ConA-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF-like_Ca-bd_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF-like_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Laminin_G UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Neurexin-related_CASP UniProtKB/TrEMBL
KEGG Report hsa:2196 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 2196 ENTREZGENE
OMIM 604269 OMIM
PANTHER CADHERIN 23 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CADHERIN-23 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NEUREXIN 1, ISOFORM F UniProtKB/TrEMBL
  PIKACHURIN-LIKE PROTEIN UniProtKB/TrEMBL
Pfam Cadherin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Laminin_G_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA28009 PharmGKB
PRINTS CADHERIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE CADHERIN_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CADHERIN_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF_3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LAM_G_DOMAIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART EGF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF_CA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LamG UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SM00112 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP EGF/Laminin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF49313 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF49899 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt FAT2_HUMAN UniProtKB/Swiss-Prot
  H0YBK2_HUMAN UniProtKB/TrEMBL
  L8E7M5_HUMAN UniProtKB/TrEMBL
  O75091 ENTREZGENE
  Q6PIA2_HUMAN UniProtKB/TrEMBL
  Q9NSR7 ENTREZGENE
  Q9NYQ8 ENTREZGENE
UniProt Secondary O75091 UniProtKB/Swiss-Prot
  Q9NSR7 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2013-06-04 FAT2  FAT atypical cadherin 2  FAT2  FAT tumor suppressor homolog 2 (Drosophila)  Symbol and/or name change 5135510 APPROVED