SLC36A1 (solute carrier family 36 member 1) - Rat Genome Database

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Gene: SLC36A1 (solute carrier family 36 member 1) Homo sapiens
Analyze
Symbol: SLC36A1
Name: solute carrier family 36 member 1
RGD ID: 736301
HGNC Page HGNC:18761
Description: Enables alanine transmembrane transporter activity and proline:proton symporter activity. Involved in alanine transport; amino acid import across plasma membrane; and taurine transmembrane transport. Located in endoplasmic reticulum.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: Dct1; hPAT1; LYAAT1; lysosomal amino acid transporter 1; PAT1; proton-coupled amino acid transporter 1; proton/amino acid transporter 1; solute carrier family 36 (proton/amino acid symporter), member 1; TRAMD3; ysosomal amino acid transporter 1
RGD Orthologs
Mouse
Rat
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
GRCh385151,344,596 - 151,556,085 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl5151,437,046 - 151,492,379 (+)EnsemblGRCh38hg38GRCh38
GRCh375150,816,607 - 150,871,940 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 365150,807,356 - 150,852,133 (+)NCBINCBI36Build 36hg18NCBI36
Build 345150,807,355 - 150,852,132NCBI
Celera5146,908,547 - 146,953,349 (+)NCBICelera
Cytogenetic Map5q33.1NCBI
HuRef5145,972,551 - 146,017,337 (+)NCBIHuRef
CHM1_15150,259,584 - 150,304,372 (+)NCBICHM1_1
T2T-CHM13v2.05151,883,565 - 152,095,073 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Autism  (IAGP)
Hyperglycinuria  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
4. Identification and characterization of a lysosomal transporter for small neutral amino acids. Sagne C, etal., Proc Natl Acad Sci U S A 2001 Jun 19;98(13):7206-11.
Additional References at PubMed
PMID:11076863   PMID:11230166   PMID:11256614   PMID:11959859   PMID:12477932   PMID:12527723   PMID:12598615   PMID:12809675   PMID:14702039   PMID:15058382   PMID:15489336   PMID:15521011  
PMID:15754324   PMID:16331283   PMID:16341674   PMID:16381901   PMID:17050537   PMID:17897319   PMID:18195088   PMID:18230330   PMID:19074966   PMID:19358571   PMID:19409386   PMID:19549785  
PMID:20498635   PMID:21873635   PMID:22574197   PMID:22853447   PMID:22975709   PMID:23488788   PMID:23506890   PMID:23962042   PMID:24104479   PMID:24760501   PMID:25062867   PMID:25117815  
PMID:25193853   PMID:25337649   PMID:25450364   PMID:25534429   PMID:25561175   PMID:25880931   PMID:26186194   PMID:28117901   PMID:28514442   PMID:28670736   PMID:30253187   PMID:31555743  
PMID:32296183   PMID:32393512   PMID:32513696   PMID:32814053   PMID:33961781  


Genomics

Comparative Map Data
SLC36A1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh385151,344,596 - 151,556,085 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl5151,437,046 - 151,492,379 (+)EnsemblGRCh38hg38GRCh38
GRCh375150,816,607 - 150,871,940 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 365150,807,356 - 150,852,133 (+)NCBINCBI36Build 36hg18NCBI36
Build 345150,807,355 - 150,852,132NCBI
Celera5146,908,547 - 146,953,349 (+)NCBICelera
Cytogenetic Map5q33.1NCBI
HuRef5145,972,551 - 146,017,337 (+)NCBIHuRef
CHM1_15150,259,584 - 150,304,372 (+)NCBICHM1_1
T2T-CHM13v2.05151,883,565 - 152,095,073 (+)NCBIT2T-CHM13v2.0
Slc36a1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391155,095,148 - 55,127,156 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1155,095,176 - 55,127,156 (+)EnsemblGRCm39 Ensembl
GRCm381155,204,322 - 55,236,330 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1155,204,350 - 55,236,330 (+)EnsemblGRCm38mm10GRCm38
MGSCv371155,017,842 - 55,049,832 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361155,047,793 - 55,077,327 (+)NCBIMGSCv36mm8
Celera1159,792,999 - 59,825,044 (+)NCBICelera
Cytogenetic Map11B1.3NCBI
cM Map1132.33NCBI
Slc36a1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81039,819,753 - 39,858,068 (+)NCBIGRCr8
mRatBN7.21039,319,062 - 39,357,374 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1039,324,337 - 39,354,217 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1044,011,250 - 44,041,187 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01043,501,335 - 43,531,274 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01039,005,043 - 39,034,980 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01040,538,013 - 40,573,304 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1040,543,288 - 40,574,444 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01040,376,631 - 40,411,917 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41040,609,220 - 40,639,096 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11040,622,842 - 40,652,719 (+)NCBI
Celera1038,661,746 - 38,691,578 (+)NCBICelera
Cytogenetic Map10q22NCBI
SLC36A1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v24146,675,263 - 146,885,743 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan15144,802,621 - 145,025,288 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v05146,870,427 - 147,080,893 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.15152,862,371 - 152,983,143 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl5152,874,114 - 152,919,034 (+)Ensemblpanpan1.1panPan2
SLC36A1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1457,815,337 - 57,903,811 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl457,837,526 - 57,904,250 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha457,652,491 - 57,711,388 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0458,274,331 - 58,333,311 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl458,261,065 - 58,344,474 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1458,092,060 - 58,150,970 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0458,190,352 - 58,249,360 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0458,694,241 - 58,753,220 (-)NCBIUU_Cfam_GSD_1.0
Slc36a1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024407213112,760,748 - 112,811,084 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493651511,210,101 - 11,246,427 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493651511,210,094 - 11,255,662 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SLC36A1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1671,538,296 - 71,589,456 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11671,540,646 - 71,589,532 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21677,762,198 - 77,799,249 (+)NCBISscrofa10.2Sscrofa10.2susScr3
SLC36A1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12354,005,471 - 54,101,311 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2354,005,520 - 54,047,935 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366603423,647,382 - 23,702,661 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Slc36a1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462473337,528,901 - 37,570,113 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462473337,490,193 - 37,570,066 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in SLC36A1
818 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_078483.2(SLC36A1):c.267C>T (p.Ile89=) single nucleotide variant Malignant melanoma [RCV000061181] Chr5:151464546 [GRCh38]
Chr5:150844107 [GRCh37]
Chr5:150824300 [NCBI36]
Chr5:5q33.1		 not provided
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.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
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_001447.2(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
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 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
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
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.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.5501C>A (p.Pro1834His) single nucleotide variant not specified [RCV004307078] Chr5:151545626 [GRCh38]
Chr5:150925187 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_078483.4(SLC36A1):c.1106A>G (p.His369Arg) single nucleotide variant not specified [RCV004297477] Chr5:151479436 [GRCh38]
Chr5:150858997 [GRCh37]
Chr5:5q33.1		 uncertain significance
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.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.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
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 5p15.33-q35.3(chr5:13648-180905029)x3 copy number gain not provided [RCV000744317] Chr5:13648..180905029 [GRCh37]
Chr5:5p15.33-q35.3		 pathogenic
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.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.10027-47G>A single nucleotide variant not provided [RCV001610133] Chr5:151528180 [GRCh38]
Chr5:150907741 [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.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.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.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.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.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.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.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.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.4840C>G (p.Leu1614Val) single nucleotide variant not provided [RCV000880328] Chr5:151546287 [GRCh38]
Chr5:150925848 [GRCh37]
Chr5:5q33.1		 benign
NM_078483.4(SLC36A1):c.1086T>C (p.Phe362=) single nucleotide variant not provided [RCV000923681] Chr5:151479416 [GRCh38]
Chr5:150858977 [GRCh37]
Chr5:5q33.1		 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.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.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.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.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.8058A>T (p.Val2686=) single nucleotide variant not provided [RCV000897747] Chr5:151543069 [GRCh38]
Chr5:150922630 [GRCh37]
Chr5:5q33.1		 likely benign
NM_078483.4(SLC36A1):c.1053C>G (p.Phe351Leu) single nucleotide variant not specified [RCV004312975] Chr5:151479383 [GRCh38]
Chr5:150858944 [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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.11905+63A>G single nucleotide variant not provided [RCV001656896] Chr5:151512102 [GRCh38]
Chr5:150891663 [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.12060-112C>T single nucleotide variant not provided [RCV001666032] Chr5:151507723 [GRCh38]
Chr5:150887284 [GRCh37]
Chr5:5q33.1		 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_078483.4(SLC36A1):c.421C>T (p.Arg141Cys) single nucleotide variant not provided [RCV000881290] Chr5:151467200 [GRCh38]
Chr5:150846761 [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.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_078483.4(SLC36A1):c.1086T>G (p.Phe362Leu) single nucleotide variant not provided [RCV000956330] Chr5:151479416 [GRCh38]
Chr5:150858977 [GRCh37]
Chr5:5q33.1		 benign
NM_078483.4(SLC36A1):c.990-6C>T single nucleotide variant not provided [RCV000889574] Chr5:151479314 [GRCh38]
Chr5:150858875 [GRCh37]
Chr5:5q33.1		 likely 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.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.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.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.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.10308+74T>C single nucleotide variant not provided [RCV001613936] Chr5:151527160 [GRCh38]
Chr5:150906721 [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.9039+20T>C single nucleotide variant not provided [RCV001691500] Chr5:151540547 [GRCh38]
Chr5:150920108 [GRCh37]
Chr5:5q33.1		 benign
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.10507-52G>A single nucleotide variant not provided [RCV001692617] Chr5:151522138 [GRCh38]
Chr5:150901699 [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.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.9194-241A>G single nucleotide variant not provided [RCV001679638] Chr5:151534883 [GRCh38]
Chr5:150914444 [GRCh37]
Chr5:5q33.1		 benign
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.9896C>T (p.Ser3299Phe) single nucleotide variant Spinocerebellar ataxia 45 [RCV001537884] Chr5:151529308 [GRCh38]
Chr5:150908869 [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.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.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.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.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.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.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.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.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.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.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.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.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.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.10026+80A>G single nucleotide variant not provided [RCV001537627] Chr5:151529098 [GRCh38]
Chr5:150908659 [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.11317+50C>T single nucleotide variant not provided [RCV001696059] Chr5:151521226 [GRCh38]
Chr5:150900787 [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.10506+52T>G single nucleotide variant not provided [RCV001670224] Chr5:151525716 [GRCh38]
Chr5:150905277 [GRCh37]
Chr5:5q33.1		 benign
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.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.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.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.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.6384G>A (p.Lys2128=) single nucleotide variant not provided [RCV004809296] Chr5:151544743 [GRCh38]
Chr5:150924304 [GRCh37]
Chr5:5q33.1		 likely benign
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
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_181776.3(SLC36A2):c.164+1G>A single nucleotide variant Hyperglycinuria [RCV000002485]|Iminoglycinuria [RCV000002486] Chr5:151347296 [GRCh38]
Chr5:150726857 [GRCh37]
Chr5:5q33.1		 pathogenic|affects
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_181776.3(SLC36A2):c.76A>G (p.Ser26Gly) single nucleotide variant not provided [RCV000972241] Chr5:151347385 [GRCh38]
Chr5:150726946 [GRCh37]
Chr5:5q33.1		 likely benign
NM_181776.3(SLC36A2):c.153C>T (p.Thr51=) single nucleotide variant SLC36A2-related disorder [RCV003968499]|not provided [RCV001710966] Chr5:151347308 [GRCh38]
Chr5:150726869 [GRCh37]
Chr5:5q33.1		 benign
NM_181776.3(SLC36A2):c.147G>A (p.Lys49=) single nucleotide variant not provided [RCV000970702] Chr5:151347314 [GRCh38]
Chr5:150726875 [GRCh37]
Chr5:5q33.1		 benign
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.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.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.9770G>A (p.Ser3257Asn) single nucleotide variant not provided [RCV002297229] Chr5:151531628 [GRCh38]
Chr5:150911189 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_078483.4(SLC36A1):c.905T>C (p.Leu302Pro) single nucleotide variant not specified [RCV004314333] Chr5:151476672 [GRCh38]
Chr5:150856233 [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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.4157-14C>T single nucleotide variant not provided [RCV002776021] Chr5:151551620 [GRCh38]
Chr5:150931181 [GRCh37]
Chr5:5q33.1		 benign
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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.10830C>A (p.Thr3610=) single nucleotide variant not provided [RCV002842144] Chr5:151521763 [GRCh38]
Chr5:150901324 [GRCh37]
Chr5:5q33.1		 likely benign
NM_078483.4(SLC36A1):c.707A>G (p.Tyr236Cys) single nucleotide variant not specified [RCV004094555] Chr5:151467909 [GRCh38]
Chr5:150847470 [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.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.11464-13A>G single nucleotide variant not provided [RCV002776020] Chr5:151512619 [GRCh38]
Chr5:150892180 [GRCh37]
Chr5:5q33.1		 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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.10506+17G>T single nucleotide variant not provided [RCV002591137] Chr5:151525751 [GRCh38]
Chr5:150905312 [GRCh37]
Chr5:5q33.1		 likely benign
NM_181776.3(SLC36A2):c.62T>C (p.Met21Thr) single nucleotide variant not provided [RCV002824873] Chr5:151347399 [GRCh38]
Chr5:150726960 [GRCh37]
Chr5:5q33.1		 uncertain significance
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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.12060-15_12060-14insATT insertion not provided [RCV002805697] Chr5:151507625..151507626 [GRCh38]
Chr5:150887186..150887187 [GRCh37]
Chr5:5q33.1		 benign
NM_078483.4(SLC36A1):c.398G>A (p.Arg133Gln) single nucleotide variant not specified [RCV004164074] Chr5:151465148 [GRCh38]
Chr5:150844709 [GRCh37]
Chr5:5q33.1		 uncertain significance
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.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.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.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.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.5683C>T (p.Arg1895Trp) single nucleotide variant not provided [RCV002890753] Chr5:151545444 [GRCh38]
Chr5:150925005 [GRCh37]
Chr5:5q33.1		 benign
NM_078483.4(SLC36A1):c.554C>T (p.Thr185Met) single nucleotide variant not specified [RCV004080942] Chr5:151467756 [GRCh38]
Chr5:150847317 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_181776.3(SLC36A2):c.146AGA[1] (p.Lys50del) microsatellite SLC36A2-related disorder [RCV003936392]|not provided [RCV002918907] Chr5:151347310..151347312 [GRCh38]
Chr5:150726871..150726873 [GRCh37]
Chr5:5q33.1		 likely benign
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.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.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.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.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.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.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.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.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.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.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.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.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.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_078483.4(SLC36A1):c.1358A>G (p.Tyr453Cys) single nucleotide variant not specified [RCV004190823] Chr5:151488181 [GRCh38]
Chr5:150867742 [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.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.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.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.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.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.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.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.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.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.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.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.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.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.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_078483.4(SLC36A1):c.421C>G (p.Arg141Gly) single nucleotide variant not specified [RCV004130282] Chr5:151467200 [GRCh38]
Chr5:150846761 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_078483.4(SLC36A1):c.130A>C (p.Ser44Arg) single nucleotide variant not specified [RCV004158469] Chr5:151458922 [GRCh38]
Chr5:150838483 [GRCh37]
Chr5:5q33.1		 uncertain significance
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.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.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.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.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.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.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.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.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.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.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.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.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.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.7852G>A (p.Ala2618Thr) single nucleotide variant not provided [RCV003087038] Chr5:151543275 [GRCh38]
Chr5:150922836 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_078483.4(SLC36A1):c.232G>T (p.Val78Leu) single nucleotide variant not specified [RCV004150112] Chr5:151463641 [GRCh38]
Chr5:150843202 [GRCh37]
Chr5:5q33.1		 likely benign
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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.12349C>A (p.Pro4117Thr) single nucleotide variant not specified [RCV004259727] Chr5:151507322 [GRCh38]
Chr5:150886883 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_078483.4(SLC36A1):c.1382A>G (p.Gln461Arg) single nucleotide variant not specified [RCV004287440] Chr5:151488205 [GRCh38]
Chr5:150867766 [GRCh37]
Chr5:5q33.1		 uncertain significance
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.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.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_078483.4(SLC36A1):c.448A>G (p.Thr150Ala) single nucleotide variant not specified [RCV004279626] Chr5:151467227 [GRCh38]
Chr5:150846788 [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_078483.4(SLC36A1):c.655A>G (p.Ile219Val) single nucleotide variant not specified [RCV004268555] Chr5:151467857 [GRCh38]
Chr5:150847418 [GRCh37]
Chr5:5q33.1		 likely benign
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.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.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.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.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.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.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.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_078483.4(SLC36A1):c.70A>T (p.Ser24Cys) single nucleotide variant not specified [RCV004355417] Chr5:151458862 [GRCh38]
Chr5:150838423 [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.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.7021G>A (p.Ala2341Thr) single nucleotide variant not specified [RCV004346431] Chr5:151544106 [GRCh38]
Chr5:150923667 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_078483.4(SLC36A1):c.1237C>T (p.Leu413Phe) single nucleotide variant not specified [RCV004334990] Chr5:151488060 [GRCh38]
Chr5:150867621 [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_078483.4(SLC36A1):c.397C>T (p.Arg133Trp) single nucleotide variant not specified [RCV004339878] Chr5:151465147 [GRCh38]
Chr5:150844708 [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.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.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
GRCh37/hg19 5q33.1(chr5:150768930-150866445)x1 copy number loss not provided [RCV003485486] Chr5:150768930..150866445 [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.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.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.10054del (p.Pro3351_Leu3352insTer) deletion not specified [RCV003388396] Chr5:151528106 [GRCh38]
Chr5:150907667 [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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.6040A>G (p.Met2014Val) single nucleotide variant not provided [RCV003579847] Chr5:151545087 [GRCh38]
Chr5:150924648 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_181776.3(SLC36A2):c.138A>C (p.Ala46=) single nucleotide variant not provided [RCV003548318] Chr5:151347323 [GRCh38]
Chr5:150726884 [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.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.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.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.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.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.7876C>A (p.Pro2626Thr) single nucleotide variant not provided [RCV003812160] Chr5:151543251 [GRCh38]
Chr5:150922812 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_181776.3(SLC36A2):c.160A>G (p.Ile54Val) single nucleotide variant not provided [RCV003672517] Chr5:151347301 [GRCh38]
Chr5:150726862 [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_181776.3(SLC36A2):c.34G>C (p.Gly12Arg) single nucleotide variant not provided [RCV003698480] Chr5:151347427 [GRCh38]
Chr5:150726988 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_181776.3(SLC36A2):c.80C>T (p.Ala27Val) single nucleotide variant not provided [RCV003674092] Chr5:151347381 [GRCh38]
Chr5:150726942 [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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.10390T>C (p.Phe3464Leu) single nucleotide variant FAT2-related disorder [RCV003979018] Chr5:151525884 [GRCh38]
Chr5:150905445 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_078483.4(SLC36A1):c.1291C>T (p.Pro431Ser) single nucleotide variant not specified [RCV004459364] Chr5:151488114 [GRCh38]
Chr5:150867675 [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.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.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.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.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.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.8577A>T (p.Thr2859=) single nucleotide variant not provided [RCV004546260] Chr5:151542550 [GRCh38]
Chr5:150922111 [GRCh37]
Chr5:5q33.1		 likely benign
NM_078483.4(SLC36A1):c.1183C>T (p.Arg395Cys) single nucleotide variant not specified [RCV004459363] Chr5:151488006 [GRCh38]
Chr5:150867567 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_078483.4(SLC36A1):c.742C>A (p.His248Asn) single nucleotide variant not specified [RCV004459367] Chr5:151473691 [GRCh38]
Chr5:150853252 [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_078483.4(SLC36A1):c.487_490dup (p.Asp164delinsGlyTer) duplication Autism [RCV004698698] Chr5:151467262..151467263 [GRCh38]
Chr5:150846823..150846824 [GRCh37]
Chr5:5q33.1		 uncertain significance
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.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.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.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.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.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.6443G>A (p.Gly2148Glu) single nucleotide variant not specified [RCV004386021] Chr5:151544684 [GRCh38]
Chr5:150924245 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_078483.4(SLC36A1):c.1033T>A (p.Phe345Ile) single nucleotide variant not specified [RCV004459362] Chr5:151479363 [GRCh38]
Chr5:150858924 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_078483.4(SLC36A1):c.320G>A (p.Arg107His) single nucleotide variant not specified [RCV004459365] Chr5:151464599 [GRCh38]
Chr5:150844160 [GRCh37]
Chr5:5q33.1		 likely benign
NM_078483.4(SLC36A1):c.561T>G (p.Ile187Met) single nucleotide variant not specified [RCV004459366] Chr5:151467763 [GRCh38]
Chr5:150847324 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_078483.4(SLC36A1):c.913A>T (p.Ser305Cys) single nucleotide variant not specified [RCV004459368] Chr5:151476680 [GRCh38]
Chr5:150856241 [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.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.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.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.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.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.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.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.6029A>T (p.Asp2010Val) single nucleotide variant not specified [RCV004620935] Chr5:151545098 [GRCh38]
Chr5:150924659 [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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.6151G>A (p.Val2051Met) single nucleotide variant not specified [RCV004702701] Chr5:151544976 [GRCh38]
Chr5:150924537 [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
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3779
Count of miRNA genes:1258
Interacting mature miRNAs:1606
Transcripts:ENST00000243389, ENST00000429484, ENST00000517628, ENST00000517945, ENST00000519829, ENST00000520111, ENST00000520701, ENST00000521351, ENST00000521925, ENST00000522185
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

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

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


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
406889687GWAS538663_Hbasophil percentage of leukocytes QTL GWAS538663 (human)5e-09basophil percentage of leukocytesblood basophil count to total leukocyte count ratio (CMO:0000368)5151467051151467052Human
406892799GWAS541775_Hbasophil percentage of granulocytes QTL GWAS541775 (human)4e-09basophil percentage of granulocytes5151469092151469093Human

Markers in Region
D5S1838  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375150,871,739 - 150,871,914UniSTSGRCh37
Build 365150,851,932 - 150,852,107RGDNCBI36
Celera5146,953,148 - 146,953,323RGD
Cytogenetic Map5q33.1UniSTS
HuRef5146,017,136 - 146,017,311UniSTS
GeneMap99-GB4 RH Map5583.24UniSTS
Whitehead-RH Map5499.2UniSTS
Whitehead-YAC Contig Map5 UniSTS
NCBI RH Map5891.6UniSTS
D5S1938  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375150,871,780 - 150,871,855UniSTSGRCh37
Build 365150,851,973 - 150,852,048RGDNCBI36
Celera5146,953,189 - 146,953,264RGD
Cytogenetic Map5q33.1UniSTS
HuRef5146,017,177 - 146,017,252UniSTS
G59583  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375150,871,784 - 150,871,897UniSTSGRCh37
Build 365150,851,977 - 150,852,090RGDNCBI36
Celera5146,953,193 - 146,953,306RGD
Cytogenetic Map5q33.1UniSTS
HuRef5146,017,181 - 146,017,294UniSTS
TNG Radiation Hybrid Map570272.0UniSTS
D5S2195E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375150,869,547 - 150,869,649UniSTSGRCh37
Build 365150,849,740 - 150,849,842RGDNCBI36
Celera5146,950,956 - 146,951,058RGD
Cytogenetic Map5q33.1UniSTS
HuRef5146,014,944 - 146,015,046UniSTS
SHGC-148481  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375150,827,910 - 150,828,188UniSTSGRCh37
Build 365150,808,103 - 150,808,381RGDNCBI36
Celera5146,909,294 - 146,909,572RGD
Cytogenetic Map5q33.1UniSTS
HuRef5145,973,298 - 145,973,576UniSTS
TNG Radiation Hybrid Map570241.0UniSTS
SLC36A1_8157  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375150,867,645 - 150,868,480UniSTSGRCh37
Build 365150,847,838 - 150,848,673RGDNCBI36
Celera5146,949,054 - 146,949,889RGD
HuRef5146,013,042 - 146,013,877UniSTS
SGC35164  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375150,852,088 - 150,852,215UniSTSGRCh37
Build 365150,832,281 - 150,832,408RGDNCBI36
Celera5146,933,490 - 146,933,617RGD
Cytogenetic Map5q33.1UniSTS
HuRef5145,997,489 - 145,997,616UniSTS
GeneMap99-GB4 RH Map5584.07UniSTS
Whitehead-RH Map5500.8UniSTS
NCBI RH Map5891.6UniSTS
WIAF-2087  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375150,871,759 - 150,871,907UniSTSGRCh37
Build 365150,851,952 - 150,852,100RGDNCBI36
Celera5146,953,168 - 146,953,316RGD
Cytogenetic Map5q33.1UniSTS
HuRef5146,017,156 - 146,017,304UniSTS
GeneMap99-GB4 RH Map5583.13UniSTS
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 2435 2788 2245 4957 1724 2347 4 622 1948 464 2268 7288 6456 52 3722 850 1737 1613 172

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001308150 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001308151 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001349740 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_078483 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005268386 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006714759 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011537580 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011537581 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011537583 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011537584 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011537585 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011537586 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011537587 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011537589 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011537590 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011537591 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011537592 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011537594 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011537595 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011537596 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017009216 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017009217 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017009218 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017009219 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017009220 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024446001 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024454398 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024454399 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047416920 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047416921 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047416923 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047416924 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047416925 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047416927 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047416928 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047416929 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054352023 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054352024 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054352025 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054352026 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054352027 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054352028 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054352029 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054352030 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054352031 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054352032 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054352033 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054352034 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054352035 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054352036 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054352037 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054352038 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054352039 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054352040 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054352041 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054352042 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054352043 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054352044 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054352045 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC008385 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC011337 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC034205 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF516142 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK000729 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK025102 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK057340 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK309323 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL833703 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY162213 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY227111 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY227112 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY227113 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC136437 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC136438 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BF439390 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BK001052 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM787446 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX537963 (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
  GU296670 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000243389   ⟹   ENSP00000243389
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5151,447,603 - 151,492,379 (+)Ensembl
Ensembl Acc Id: ENST00000429484   ⟹   ENSP00000395640
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5151,437,086 - 151,470,959 (+)Ensembl
Ensembl Acc Id: ENST00000517628   ⟹   ENSP00000428738
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5151,473,673 - 151,480,144 (+)Ensembl
Ensembl Acc Id: ENST00000517945   ⟹   ENSP00000427804
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5151,447,627 - 151,463,620 (+)Ensembl
Ensembl Acc Id: ENST00000519829   ⟹   ENSP00000428471
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5151,450,923 - 151,463,624 (+)Ensembl
Ensembl Acc Id: ENST00000520111   ⟹   ENSP00000429796
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5151,437,046 - 151,464,578 (+)Ensembl
Ensembl Acc Id: ENST00000520701   ⟹   ENSP00000428140
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5151,437,047 - 151,488,690 (+)Ensembl
Ensembl Acc Id: ENST00000521351
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5151,447,801 - 151,465,149 (+)Ensembl
Ensembl Acc Id: ENST00000521925   ⟹   ENSP00000430305
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5151,447,627 - 151,479,759 (+)Ensembl
Ensembl Acc Id: ENST00000522185   ⟹   ENSP00000430181
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5151,476,589 - 151,488,269 (+)Ensembl
Ensembl Acc Id: ENST00000616007   ⟹   ENSP00000480948
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5151,447,614 - 151,480,143 (+)Ensembl
RefSeq Acc Id: NM_001308150   ⟹   NP_001295079
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385151,447,603 - 151,480,144 (+)NCBI
CHM1_15150,259,578 - 150,292,135 (+)NCBI
T2T-CHM13v2.05151,986,581 - 152,019,122 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001308151   ⟹   NP_001295080
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385151,437,046 - 151,470,959 (+)NCBI
CHM1_15150,248,977 - 150,282,941 (+)NCBI
T2T-CHM13v2.05151,976,024 - 152,009,941 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001349740   ⟹   NP_001336669
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385151,447,603 - 151,492,379 (+)NCBI
T2T-CHM13v2.05151,986,581 - 152,031,357 (+)NCBI
Sequence:
RefSeq Acc Id: NM_078483   ⟹   NP_510968
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385151,447,603 - 151,492,379 (+)NCBI
GRCh375150,816,553 - 150,871,940 (+)NCBI
Build 365150,807,356 - 150,852,133 (+)NCBI Archive
HuRef5145,972,551 - 146,017,337 (+)ENTREZGENE
CHM1_15150,259,578 - 150,304,374 (+)NCBI
T2T-CHM13v2.05151,986,581 - 152,031,357 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006714759   ⟹   XP_006714822
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385151,463,552 - 151,492,379 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011537580   ⟹   XP_011535882
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385151,448,524 - 151,492,379 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011537581   ⟹   XP_011535883
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385151,447,603 - 151,492,379 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011537584   ⟹   XP_011535886
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385151,448,019 - 151,492,379 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011537585   ⟹   XP_011535887
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385151,437,046 - 151,492,379 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011537586   ⟹   XP_011535888
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385151,449,518 - 151,492,379 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011537587   ⟹   XP_011535889
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385151,447,801 - 151,492,379 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011537589   ⟹   XP_011535891
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385151,448,524 - 151,492,379 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011537590   ⟹   XP_011535892
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385151,447,801 - 151,492,379 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011537591   ⟹   XP_011535893
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385151,344,596 - 151,492,379 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011537592   ⟹   XP_011535894
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385151,448,233 - 151,492,379 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011537595   ⟹   XP_011535897
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385151,454,109 - 151,553,651 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011537596   ⟹   XP_011535898
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385151,454,109 - 151,472,818 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017009216   ⟹   XP_016864705
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385151,450,980 - 151,492,379 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017009217   ⟹   XP_016864706
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385151,447,603 - 151,556,085 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047416920   ⟹   XP_047272876
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385151,454,109 - 151,492,379 (+)NCBI
RefSeq Acc Id: XM_047416921   ⟹   XP_047272877
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385151,452,235 - 151,492,379 (+)NCBI
RefSeq Acc Id: XM_047416923   ⟹   XP_047272879
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385151,447,603 - 151,492,379 (+)NCBI
RefSeq Acc Id: XM_047416924   ⟹   XP_047272880
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385151,435,440 - 151,492,379 (+)NCBI
RefSeq Acc Id: XM_047416925   ⟹   XP_047272881
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385151,454,109 - 151,556,085 (+)NCBI
RefSeq Acc Id: XM_047416927   ⟹   XP_047272883
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385151,454,109 - 151,487,974 (+)NCBI
RefSeq Acc Id: XM_047416928   ⟹   XP_047272884
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385151,448,524 - 151,487,974 (+)NCBI
RefSeq Acc Id: XM_047416929   ⟹   XP_047272885
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385151,454,109 - 151,469,271 (+)NCBI
RefSeq Acc Id: XM_054352023   ⟹   XP_054207998
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.05151,993,060 - 152,031,357 (+)NCBI
RefSeq Acc Id: XM_054352024   ⟹   XP_054207999
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.05151,988,781 - 152,031,357 (+)NCBI
RefSeq Acc Id: XM_054352025   ⟹   XP_054208000
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.05151,986,581 - 152,031,357 (+)NCBI
RefSeq Acc Id: XM_054352026   ⟹   XP_054208001
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.05151,991,213 - 152,031,357 (+)NCBI
RefSeq Acc Id: XM_054352027   ⟹   XP_054208002
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.05151,976,024 - 152,031,357 (+)NCBI
RefSeq Acc Id: XM_054352028   ⟹   XP_054208003
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.05151,987,627 - 152,031,357 (+)NCBI
RefSeq Acc Id: XM_054352029   ⟹   XP_054208004
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.05151,987,535 - 152,031,357 (+)NCBI
RefSeq Acc Id: XM_054352030   ⟹   XP_054208005
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.05151,986,568 - 152,031,357 (+)NCBI
RefSeq Acc Id: XM_054352031   ⟹   XP_054208006
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.05151,986,882 - 152,031,357 (+)NCBI
RefSeq Acc Id: XM_054352032   ⟹   XP_054208007
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.05151,986,997 - 152,031,357 (+)NCBI
RefSeq Acc Id: XM_054352033   ⟹   XP_054208008
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.05151,883,565 - 152,031,357 (+)NCBI
RefSeq Acc Id: XM_054352034   ⟹   XP_054208009
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.05151,987,211 - 152,031,357 (+)NCBI
RefSeq Acc Id: XM_054352035   ⟹   XP_054208010
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.05151,989,958 - 152,031,357 (+)NCBI
RefSeq Acc Id: XM_054352036   ⟹   XP_054208011
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.05151,974,418 - 152,031,357 (+)NCBI
RefSeq Acc Id: XM_054352037   ⟹   XP_054208012
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.05151,993,060 - 152,095,073 (+)NCBI
RefSeq Acc Id: XM_054352038   ⟹   XP_054208013
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.05151,993,060 - 152,091,246 (+)NCBI
RefSeq Acc Id: XM_054352039   ⟹   XP_054208014
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.05151,993,060 - 152,026,952 (+)NCBI
RefSeq Acc Id: XM_054352040   ⟹   XP_054208015
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.05151,986,581 - 152,095,073 (+)NCBI
RefSeq Acc Id: XM_054352041   ⟹   XP_054208016
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.05151,988,781 - 152,026,952 (+)NCBI
RefSeq Acc Id: XM_054352042   ⟹   XP_054208017
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.05152,002,530 - 152,031,357 (+)NCBI
RefSeq Acc Id: XM_054352043   ⟹   XP_054208018
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.05151,986,841 - 152,031,357 (+)NCBI
RefSeq Acc Id: XM_054352044   ⟹   XP_054208019
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.05151,993,060 - 152,011,913 (+)NCBI
RefSeq Acc Id: XM_054352045   ⟹   XP_054208020
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.05151,993,060 - 152,008,253 (+)NCBI
Protein Sequences
Protein RefSeqs NP_001295079 (Get FASTA)   NCBI Sequence Viewer  
  NP_001295080 (Get FASTA)   NCBI Sequence Viewer  
  NP_001336669 (Get FASTA)   NCBI Sequence Viewer  
  NP_510968 (Get FASTA)   NCBI Sequence Viewer  
  XP_006714822 (Get FASTA)   NCBI Sequence Viewer  
  XP_011535882 (Get FASTA)   NCBI Sequence Viewer  
  XP_011535883 (Get FASTA)   NCBI Sequence Viewer  
  XP_011535886 (Get FASTA)   NCBI Sequence Viewer  
  XP_011535887 (Get FASTA)   NCBI Sequence Viewer  
  XP_011535888 (Get FASTA)   NCBI Sequence Viewer  
  XP_011535889 (Get FASTA)   NCBI Sequence Viewer  
  XP_011535891 (Get FASTA)   NCBI Sequence Viewer  
  XP_011535892 (Get FASTA)   NCBI Sequence Viewer  
  XP_011535893 (Get FASTA)   NCBI Sequence Viewer  
  XP_011535894 (Get FASTA)   NCBI Sequence Viewer  
  XP_011535897 (Get FASTA)   NCBI Sequence Viewer  
  XP_011535898 (Get FASTA)   NCBI Sequence Viewer  
  XP_016864705 (Get FASTA)   NCBI Sequence Viewer  
  XP_016864706 (Get FASTA)   NCBI Sequence Viewer  
  XP_047272876 (Get FASTA)   NCBI Sequence Viewer  
  XP_047272877 (Get FASTA)   NCBI Sequence Viewer  
  XP_047272879 (Get FASTA)   NCBI Sequence Viewer  
  XP_047272880 (Get FASTA)   NCBI Sequence Viewer  
  XP_047272881 (Get FASTA)   NCBI Sequence Viewer  
  XP_047272883 (Get FASTA)   NCBI Sequence Viewer  
  XP_047272884 (Get FASTA)   NCBI Sequence Viewer  
  XP_047272885 (Get FASTA)   NCBI Sequence Viewer  
  XP_054207998 (Get FASTA)   NCBI Sequence Viewer  
  XP_054207999 (Get FASTA)   NCBI Sequence Viewer  
  XP_054208000 (Get FASTA)   NCBI Sequence Viewer  
  XP_054208001 (Get FASTA)   NCBI Sequence Viewer  
  XP_054208002 (Get FASTA)   NCBI Sequence Viewer  
  XP_054208003 (Get FASTA)   NCBI Sequence Viewer  
  XP_054208004 (Get FASTA)   NCBI Sequence Viewer  
  XP_054208005 (Get FASTA)   NCBI Sequence Viewer  
  XP_054208006 (Get FASTA)   NCBI Sequence Viewer  
  XP_054208007 (Get FASTA)   NCBI Sequence Viewer  
  XP_054208008 (Get FASTA)   NCBI Sequence Viewer  
  XP_054208009 (Get FASTA)   NCBI Sequence Viewer  
  XP_054208010 (Get FASTA)   NCBI Sequence Viewer  
  XP_054208011 (Get FASTA)   NCBI Sequence Viewer  
  XP_054208012 (Get FASTA)   NCBI Sequence Viewer  
  XP_054208013 (Get FASTA)   NCBI Sequence Viewer  
  XP_054208014 (Get FASTA)   NCBI Sequence Viewer  
  XP_054208015 (Get FASTA)   NCBI Sequence Viewer  
  XP_054208016 (Get FASTA)   NCBI Sequence Viewer  
  XP_054208017 (Get FASTA)   NCBI Sequence Viewer  
  XP_054208018 (Get FASTA)   NCBI Sequence Viewer  
  XP_054208019 (Get FASTA)   NCBI Sequence Viewer  
  XP_054208020 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAI36438 (Get FASTA)   NCBI Sequence Viewer  
  AAI36439 (Get FASTA)   NCBI Sequence Viewer  
  AAO11787 (Get FASTA)   NCBI Sequence Viewer  
  AAO37091 (Get FASTA)   NCBI Sequence Viewer  
  AAO37092 (Get FASTA)   NCBI Sequence Viewer  
  AAO37093 (Get FASTA)   NCBI Sequence Viewer  
  AAP47194 (Get FASTA)   NCBI Sequence Viewer  
  ADB56966 (Get FASTA)   NCBI Sequence Viewer  
  BAB71435 (Get FASTA)   NCBI Sequence Viewer  
  CAD97927 (Get FASTA)   NCBI Sequence Viewer  
  DAA01126 (Get FASTA)   NCBI Sequence Viewer  
  EAW61674 (Get FASTA)   NCBI Sequence Viewer  
  EAW61675 (Get FASTA)   NCBI Sequence Viewer  
  EAW61676 (Get FASTA)   NCBI Sequence Viewer  
  EAW61677 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000243389
  ENSP00000243389.3
  ENSP00000395640
  ENSP00000395640.2
  ENSP00000427804.1
  ENSP00000428140
  ENSP00000428140.1
  ENSP00000428471.1
  ENSP00000428738.1
  ENSP00000429796.1
  ENSP00000430181.1
  ENSP00000430305
  ENSP00000430305.1
GenBank Protein Q7Z2H8 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_510968   ⟸   NM_078483
- Peptide Label: isoform a
- UniProtKB: Q86YK4 (UniProtKB/Swiss-Prot),   Q7Z7C0 (UniProtKB/Swiss-Prot),   Q1LZ56 (UniProtKB/Swiss-Prot),   C9JI34 (UniProtKB/Swiss-Prot),   Q96M74 (UniProtKB/Swiss-Prot),   Q7Z2H8 (UniProtKB/Swiss-Prot),   D2Y3F6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006714822   ⟸   XM_006714759
- Peptide Label: isoform X9
- UniProtKB: D2Y3F6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011535893   ⟸   XM_011537591
- Peptide Label: isoform X3
- UniProtKB: Q86YK4 (UniProtKB/Swiss-Prot),   Q7Z7C0 (UniProtKB/Swiss-Prot),   Q1LZ56 (UniProtKB/Swiss-Prot),   C9JI34 (UniProtKB/Swiss-Prot),   Q96M74 (UniProtKB/Swiss-Prot),   Q7Z2H8 (UniProtKB/Swiss-Prot),   D2Y3F6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011535887   ⟸   XM_011537585
- Peptide Label: isoform X3
- UniProtKB: Q86YK4 (UniProtKB/Swiss-Prot),   Q7Z7C0 (UniProtKB/Swiss-Prot),   Q1LZ56 (UniProtKB/Swiss-Prot),   C9JI34 (UniProtKB/Swiss-Prot),   Q96M74 (UniProtKB/Swiss-Prot),   Q7Z2H8 (UniProtKB/Swiss-Prot),   D2Y3F6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011535883   ⟸   XM_011537581
- Peptide Label: isoform X3
- UniProtKB: Q86YK4 (UniProtKB/Swiss-Prot),   Q7Z7C0 (UniProtKB/Swiss-Prot),   Q1LZ56 (UniProtKB/Swiss-Prot),   C9JI34 (UniProtKB/Swiss-Prot),   Q96M74 (UniProtKB/Swiss-Prot),   Q7Z2H8 (UniProtKB/Swiss-Prot),   D2Y3F6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011535889   ⟸   XM_011537587
- Peptide Label: isoform X3
- UniProtKB: Q86YK4 (UniProtKB/Swiss-Prot),   Q7Z7C0 (UniProtKB/Swiss-Prot),   Q1LZ56 (UniProtKB/Swiss-Prot),   C9JI34 (UniProtKB/Swiss-Prot),   Q96M74 (UniProtKB/Swiss-Prot),   Q7Z2H8 (UniProtKB/Swiss-Prot),   D2Y3F6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011535892   ⟸   XM_011537590
- Peptide Label: isoform X3
- UniProtKB: Q86YK4 (UniProtKB/Swiss-Prot),   Q7Z7C0 (UniProtKB/Swiss-Prot),   Q1LZ56 (UniProtKB/Swiss-Prot),   C9JI34 (UniProtKB/Swiss-Prot),   Q96M74 (UniProtKB/Swiss-Prot),   Q7Z2H8 (UniProtKB/Swiss-Prot),   D2Y3F6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011535886   ⟸   XM_011537584
- Peptide Label: isoform X3
- UniProtKB: Q86YK4 (UniProtKB/Swiss-Prot),   Q7Z7C0 (UniProtKB/Swiss-Prot),   Q1LZ56 (UniProtKB/Swiss-Prot),   C9JI34 (UniProtKB/Swiss-Prot),   Q96M74 (UniProtKB/Swiss-Prot),   Q7Z2H8 (UniProtKB/Swiss-Prot),   D2Y3F6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011535894   ⟸   XM_011537592
- Peptide Label: isoform X3
- UniProtKB: Q86YK4 (UniProtKB/Swiss-Prot),   Q7Z7C0 (UniProtKB/Swiss-Prot),   Q1LZ56 (UniProtKB/Swiss-Prot),   C9JI34 (UniProtKB/Swiss-Prot),   Q96M74 (UniProtKB/Swiss-Prot),   Q7Z2H8 (UniProtKB/Swiss-Prot),   D2Y3F6 (UniProtKB/TrEMBL)
- Sequence:
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RefSeq Acc Id: XP_011535891   ⟸   XM_011537589
- Peptide Label: isoform X3