FMN2 (formin 2) - Rat Genome Database

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Gene: FMN2 (formin 2) Homo sapiens
Analyze
Symbol: FMN2
Name: formin 2
RGD ID: 1345437
HGNC Page HGNC:14074
Description: Enables actin binding activity. Involved in several processes, including cellular response to hypoxia; formin-nucleated actin cable assembly; and positive regulation of double-strand break repair. Located in actin cytoskeleton; cytosol; and nucleolus. Implicated in autosomal recessive intellectual developmental disorder 47.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: formin 2-like; formin-2; MRT47
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Related Pseudogenes: FMN2P1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381240,091,883 - 240,475,187 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1240,014,348 - 240,475,187 (+)EnsemblGRCh38hg38GRCh38
GRCh371240,255,183 - 240,638,487 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361238,321,604 - 238,705,112 (+)NCBINCBI36Build 36hg18NCBI36
Celera1213,510,402 - 213,893,529 (+)NCBICelera
Cytogenetic Map1q43NCBI
HuRef1210,713,436 - 211,096,763 (+)NCBIHuRef
CHM1_11241,528,744 - 241,910,469 (+)NCBICHM1_1
T2T-CHM13v2.01239,505,207 - 239,886,446 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View
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. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:10781961   PMID:12447394   PMID:12477932   PMID:15289902   PMID:15866570   PMID:16710414   PMID:17554300   PMID:19336575   PMID:19605360   PMID:19626040   PMID:19913121   PMID:19955471  
PMID:20082305   PMID:20379614   PMID:20628086   PMID:20734064   PMID:21705804   PMID:21873635   PMID:23375502   PMID:23400010   PMID:23437003   PMID:23535033   PMID:23839046   PMID:24223803  
PMID:24489884   PMID:25480035   PMID:25564607   PMID:26186194   PMID:26287480   PMID:27556228   PMID:27880917   PMID:28514442   PMID:28768717   PMID:29659741   PMID:29676528   PMID:29947928  
PMID:30021884   PMID:30510376   PMID:30639242   PMID:30890647   PMID:31753913   PMID:31871319   PMID:33961781   PMID:34079125   PMID:34432599   PMID:35227295   PMID:35271311   PMID:35652658  
PMID:35914814   PMID:36931259   PMID:36995659   PMID:37452271  


Genomics

Comparative Map Data
FMN2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381240,091,883 - 240,475,187 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1240,014,348 - 240,475,187 (+)EnsemblGRCh38hg38GRCh38
GRCh371240,255,183 - 240,638,487 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361238,321,604 - 238,705,112 (+)NCBINCBI36Build 36hg18NCBI36
Celera1213,510,402 - 213,893,529 (+)NCBICelera
Cytogenetic Map1q43NCBI
HuRef1210,713,436 - 211,096,763 (+)NCBIHuRef
CHM1_11241,528,744 - 241,910,469 (+)NCBICHM1_1
T2T-CHM13v2.01239,505,207 - 239,886,446 (+)NCBIT2T-CHM13v2.0
Fmn2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391174,324,079 - 174,650,295 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1174,329,391 - 174,650,295 (+)EnsemblGRCm39 Ensembl
GRCm381174,501,752 - 174,822,729 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1174,501,825 - 174,822,729 (+)EnsemblGRCm38mm10GRCm38
MGSCv371176,431,956 - 176,752,860 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361176,325,847 - 176,658,752 (+)NCBIMGSCv36mm8
Celera1181,581,367 - 181,911,120 (+)NCBICelera
Cytogenetic Map1H3NCBI
cM Map181.04NCBI
Fmn2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81388,986,863 - 89,303,789 (+)NCBIGRCr8
mRatBN7.21386,454,256 - 86,771,437 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1386,453,926 - 86,771,411 (+)EnsemblmRatBN7.2 Ensembl
Rnor_6.01392,569,256 - 92,887,302 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1392,569,785 - 92,672,821 (+)NCBIRnor6.0rn6Rnor6.0
Rnor_5.01397,035,682 - 97,352,320 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41390,205,332 - 90,520,323 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera1386,056,421 - 86,372,278 (+)NCBICelera
Cytogenetic Map13q24NCBI
Fmn2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_00495540611,358,585 - 11,666,102 (-)NCBIChiLan1.0ChiLan1.0
FMN2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v218,686,548 - 9,078,536 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan118,909,570 - 9,303,709 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01215,626,889 - 216,023,590 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11220,621,414 - 221,008,892 (+)NCBIpanpan1.1PanPan1.1panPan2
FMN2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1731,657,371 - 32,024,777 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl731,697,245 - 32,023,472 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha731,194,870 - 31,564,912 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0731,478,304 - 31,849,271 (+)NCBIROS_Cfam_1.0
UMICH_Zoey_3.1731,315,799 - 31,687,109 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0731,348,230 - 31,718,511 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0731,586,597 - 31,957,372 (+)NCBIUU_Cfam_GSD_1.0
Fmn2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440934444,577,814 - 44,914,520 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365269,833,128 - 10,169,267 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365269,832,790 - 10,169,488 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
FMN2
(Sus scrofa - pig)		 No map positions available.
FMN2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12577,187,572 - 77,585,773 (+)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366605579,293,686 - 79,693,875 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Fmn2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462477110,642,515 - 10,953,480 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462477110,641,845 - 10,956,213 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in FMN2
435 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 1q32.3-44(chr1:214023812-248918469)x3 copy number gain See cases [RCV000050981] Chr1:214023812..248918469 [GRCh38]
Chr1:214197155..249212668 [GRCh37]
Chr1:212263778..247179291 [NCBI36]
Chr1:1q32.3-44		 pathogenic
GRCh38/hg38 1q41-44(chr1:223347693-248918469)x3 copy number gain See cases [RCV000050581] Chr1:223347693..248918469 [GRCh38]
Chr1:223521035..249212668 [GRCh37]
Chr1:221587658..247179291 [NCBI36]
Chr1:1q41-44		 pathogenic
GRCh38/hg38 1q43(chr1:239631841-242609012)x3 copy number gain See cases [RCV000051587] Chr1:239631841..242609012 [GRCh38]
Chr1:239795141..242772314 [GRCh37]
Chr1:237861764..240838937 [NCBI36]
Chr1:1q43		 uncertain significance
GRCh38/hg38 1q42.13-44(chr1:230106271-243677283)x1 copy number loss See cases [RCV000051082] Chr1:230106271..243677283 [GRCh38]
Chr1:230242018..243840585 [GRCh37]
Chr1:228308641..241907208 [NCBI36]
Chr1:1q42.13-44		 pathogenic
GRCh38/hg38 1q41-44(chr1:221902539-248918469)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051875]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051875]|See cases [RCV000051875] Chr1:221902539..248918469 [GRCh38]
Chr1:222075881..249212668 [GRCh37]
Chr1:220142504..247179291 [NCBI36]
Chr1:1q41-44		 pathogenic
GRCh38/hg38 1q41-44(chr1:223828500-248891309)x3 copy number gain See cases [RCV000051878] Chr1:223828500..248891309 [GRCh38]
Chr1:224016202..249185508 [GRCh37]
Chr1:222082825..247152131 [NCBI36]
Chr1:1q41-44		 pathogenic
GRCh38/hg38 1q41-44(chr1:223887780-248891309)x3 copy number gain See cases [RCV000051880] Chr1:223887780..248891309 [GRCh38]
Chr1:224075482..249185508 [GRCh37]
Chr1:222142105..247152131 [NCBI36]
Chr1:1q41-44		 pathogenic
GRCh38/hg38 1q32.2-44(chr1:209646207-248931113)x3 copy number gain See cases [RCV000051861] Chr1:209646207..248931113 [GRCh38]
Chr1:209819552..249225312 [GRCh37]
Chr1:207886175..247191935 [NCBI36]
Chr1:1q32.2-44		 pathogenic
GRCh38/hg38 1q42.11-44(chr1:224096488-248918469)x3 copy number gain See cases [RCV000051882] Chr1:224096488..248918469 [GRCh38]
Chr1:224284190..249212668 [GRCh37]
Chr1:222350813..247179291 [NCBI36]
Chr1:1q42.11-44		 pathogenic
GRCh38/hg38 1q42.3-44(chr1:236237049-248918469)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051883]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051883]|See cases [RCV000051883] Chr1:236237049..248918469 [GRCh38]
Chr1:236400349..249212668 [GRCh37]
Chr1:234466972..247179291 [NCBI36]
Chr1:1q42.3-44		 pathogenic
GRCh38/hg38 1q43-44(chr1:239657468-248918610)x3 copy number gain See cases [RCV000051886] Chr1:239657468..248918610 [GRCh38]
Chr1:239820768..249212809 [GRCh37]
Chr1:237887391..247179432 [NCBI36]
Chr1:1q43-44		 pathogenic
GRCh38/hg38 1q43-44(chr1:240244444-248891309)x3 copy number gain See cases [RCV000051888] Chr1:240244444..248891309 [GRCh38]
Chr1:240407744..249185508 [GRCh37]
Chr1:238474367..247152131 [NCBI36]
Chr1:1q43-44		 pathogenic
GRCh38/hg38 1q42.2-44(chr1:232097468-248918610)x1 copy number loss See cases [RCV000053985] Chr1:232097468..248918610 [GRCh38]
Chr1:232233214..249212809 [GRCh37]
Chr1:230299837..247179432 [NCBI36]
Chr1:1q42.2-44		 pathogenic
GRCh38/hg38 1q43-44(chr1:237041745-248918469)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053989]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053989]|See cases [RCV000053989] Chr1:237041745..248918469 [GRCh38]
Chr1:237205045..249212668 [GRCh37]
Chr1:235271668..247179291 [NCBI36]
Chr1:1q43-44		 pathogenic
GRCh38/hg38 1q43-44(chr1:237906379-244022201)x1 copy number loss See cases [RCV000053990] Chr1:237906379..244022201 [GRCh38]
Chr1:238069679..244185503 [GRCh37]
Chr1:236136302..242252126 [NCBI36]
Chr1:1q43-44		 pathogenic
GRCh38/hg38 1q43-44(chr1:238061020-248918469)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053991]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053991]|See cases [RCV000053991] Chr1:238061020..248918469 [GRCh38]
Chr1:238224320..249212668 [GRCh37]
Chr1:236290943..247179291 [NCBI36]
Chr1:1q43-44		 pathogenic
GRCh38/hg38 1q43(chr1:238412092-241098768)x1 copy number loss See cases [RCV000053992] Chr1:238412092..241098768 [GRCh38]
Chr1:238575392..241262068 [GRCh37]
Chr1:236642015..239328691 [NCBI36]
Chr1:1q43		 pathogenic
GRCh38/hg38 1q43-44(chr1:239496961-248918469)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053993]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053993]|See cases [RCV000053993] Chr1:239496961..248918469 [GRCh38]
Chr1:239660261..249212668 [GRCh37]
Chr1:237726884..247179291 [NCBI36]
Chr1:1q43-44		 pathogenic
GRCh38/hg38 1q43-44(chr1:239558430-248918469)x1 copy number loss See cases [RCV000054023] Chr1:239558430..248918469 [GRCh38]
Chr1:239721730..249212668 [GRCh37]
Chr1:237788353..247179291 [NCBI36]
Chr1:1q43-44		 pathogenic
GRCh38/hg38 1q43-44(chr1:239629868-248924593)x1 copy number loss See cases [RCV000054024] Chr1:239629868..248924593 [GRCh38]
Chr1:239793168..249218792 [GRCh37]
Chr1:237859791..247185415 [NCBI36]
Chr1:1q43-44		 pathogenic
NM_020066.4(FMN2):c.3109C>T (p.Pro1037Ser) single nucleotide variant Malignant melanoma [RCV000060117] Chr1:240207921 [GRCh38]
Chr1:240371221 [GRCh37]
Chr1:238437844 [NCBI36]
Chr1:1q43		 not provided
NM_020066.5(FMN2):c.3237A>T (p.Pro1079=) single nucleotide variant FMN2-related disorder [RCV003961849] Chr1:240208049 [GRCh38]
Chr1:240371349 [GRCh37]
Chr1:238437972 [NCBI36]
Chr1:1q43		 likely benign|not provided
NM_020066.4(FMN2):c.5117T>A (p.Ile1706Lys) single nucleotide variant Malignant melanoma [RCV000060119] Chr1:240472428 [GRCh38]
Chr1:240635728 [GRCh37]
Chr1:238702351 [NCBI36]
Chr1:1q43		 not provided
NM_020066.5(FMN2):c.2395G>A (p.Asp799Asn) single nucleotide variant Inborn genetic diseases [RCV002692252] Chr1:240207207 [GRCh38]
Chr1:240370507 [GRCh37]
Chr1:238437130 [NCBI36]
Chr1:1q43		 uncertain significance|not provided
NM_020066.4(FMN2):c.2663T>G (p.Val888Gly) single nucleotide variant Malignant melanoma [RCV000064607] Chr1:240207475 [GRCh38]
Chr1:240370775 [GRCh37]
Chr1:238437398 [NCBI36]
Chr1:1q43		 not provided
NM_020066.4(FMN2):c.3548G>A (p.Gly1183Glu) single nucleotide variant Malignant melanoma [RCV000064608] Chr1:240208360 [GRCh38]
Chr1:240371660 [GRCh37]
Chr1:238438283 [NCBI36]
Chr1:1q43		 not provided
NM_020066.4(FMN2):c.3979G>A (p.Glu1327Lys) single nucleotide variant Malignant melanoma [RCV000064609] Chr1:240211149 [GRCh38]
Chr1:240374449 [GRCh37]
Chr1:238441072 [NCBI36]
Chr1:1q43		 not provided
NM_020066.4(FMN2):c.1782+14342G>T single nucleotide variant Lung cancer [RCV000090669] Chr1:240137687 [GRCh38]
Chr1:240300987 [GRCh37]
Chr1:1q43		 uncertain significance
NM_020066.4(FMN2):c.1783-23256G>A single nucleotide variant Lung cancer [RCV000090670] Chr1:240154665 [GRCh38]
Chr1:240317965 [GRCh37]
Chr1:1q43		 uncertain significance
NM_020066.4(FMN2):c.1987-4489A>G single nucleotide variant Lung cancer [RCV000090671] Chr1:240202310 [GRCh38]
Chr1:240365610 [GRCh37]
Chr1:1q43		 uncertain significance
NM_020066.4(FMN2):c.4215+8369C>T single nucleotide variant Lung cancer [RCV000090672] Chr1:240303252 [GRCh38]
Chr1:240466552 [GRCh37]
Chr1:1q43		 uncertain significance
NM_020066.4(FMN2):c.4216-4643G>A single nucleotide variant Lung cancer [RCV000090673] Chr1:240324433 [GRCh38]
Chr1:240487733 [GRCh37]
Chr1:1q43		 uncertain significance
NM_020066.4(FMN2):c.4766-10174C>A single nucleotide variant Lung cancer [RCV000090674] Chr1:240345642 [GRCh38]
Chr1:240508942 [GRCh37]
Chr1:1q43		 uncertain significance
NM_020066.5(FMN2):c.2844_2876del (p.Ala952_Ala962del) deletion not provided [RCV000513719]|not specified [RCV004525956] Chr1:240207642..240207674 [GRCh38]
Chr1:240370942..240370974 [GRCh37]
Chr1:1q43		 benign|likely benign
GRCh38/hg38 1q43-44(chr1:238753749-248918467)x1 copy number loss See cases [RCV000134751] Chr1:238753749..248918467 [GRCh38]
Chr1:238917049..249212666 [GRCh37]
Chr1:236983672..247179289 [NCBI36]
Chr1:1q43-44		 pathogenic
GRCh38/hg38 1q43-44(chr1:238351121-248918469)x1 copy number loss See cases [RCV000134172] Chr1:238351121..248918469 [GRCh38]
Chr1:238514421..249212668 [GRCh37]
Chr1:236581044..247179291 [NCBI36]
Chr1:1q43-44		 pathogenic
GRCh38/hg38 1q32.2-44(chr1:209963625-248918469)x3 copy number gain See cases [RCV000134979] Chr1:209963625..248918469 [GRCh38]
Chr1:210136970..249212668 [GRCh37]
Chr1:208203593..247179291 [NCBI36]
Chr1:1q32.2-44		 pathogenic
GRCh38/hg38 1q41-44(chr1:223815147-248918469)x3 copy number gain See cases [RCV000135839] Chr1:223815147..248918469 [GRCh38]
Chr1:224002849..249212668 [GRCh37]
Chr1:222069472..247179291 [NCBI36]
Chr1:1q41-44		 pathogenic
NM_020066.5(FMN2):c.2828C>T (p.Pro943Leu) single nucleotide variant not provided [RCV004691110]|not specified [RCV000202660] Chr1:240207640 [GRCh38]
Chr1:240370940 [GRCh37]
Chr1:1q43		 uncertain significance
GRCh38/hg38 1q42.13-44(chr1:229022909-248918469)x3 copy number gain See cases [RCV000136666] Chr1:229022909..248918469 [GRCh38]
Chr1:229158656..249212668 [GRCh37]
Chr1:227225279..247179291 [NCBI36]
Chr1:1q42.13-44		 pathogenic
GRCh38/hg38 1q43-44(chr1:236556082-248918469)x1 copy number loss See cases [RCV000137554] Chr1:236556082..248918469 [GRCh38]
Chr1:236719382..249212668 [GRCh37]
Chr1:234786005..247179291 [NCBI36]
Chr1:1q43-44		 pathogenic
GRCh38/hg38 1q43(chr1:237322513-240310271)x1 copy number loss See cases [RCV000137510] Chr1:237322513..240310271 [GRCh38]
Chr1:237485813..240473571 [GRCh37]
Chr1:235552436..238540194 [NCBI36]
Chr1:1q43		 uncertain significance
NM_020066.5(FMN2):c.3413C>T (p.Ala1138Val) single nucleotide variant not provided [RCV003417736]|not specified [RCV000202705] Chr1:240208225 [GRCh38]
Chr1:240371525 [GRCh37]
Chr1:1q43		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh38/hg38 1q43-44(chr1:240465122-248918469)x1 copy number loss See cases [RCV000137260] Chr1:240465122..248918469 [GRCh38]
Chr1:240628422..249212668 [GRCh37]
Chr1:238695045..247179291 [NCBI36]
Chr1:1q43-44		 pathogenic
GRCh38/hg38 1q42.11-44(chr1:224022862-248918469)x3 copy number gain See cases [RCV000137769] Chr1:224022862..248918469 [GRCh38]
Chr1:224210564..249212668 [GRCh37]
Chr1:222277187..247179291 [NCBI36]
Chr1:1q42.11-44		 pathogenic
NM_020066.5(FMN2):c.2840C>T (p.Pro947Leu) single nucleotide variant FMN2-related disorder [RCV003927870]|not provided [RCV003884402]|not specified [RCV000202812] Chr1:240207652 [GRCh38]
Chr1:240370952 [GRCh37]
Chr1:1q43		 benign|likely benign
GRCh38/hg38 1q43-44(chr1:238033575-248924534)x1 copy number loss See cases [RCV000140039] Chr1:238033575..248924534 [GRCh38]
Chr1:238196875..249218733 [GRCh37]
Chr1:236263498..247185356 [NCBI36]
Chr1:1q43-44		 pathogenic
NM_020066.5(FMN2):c.2897T>C (p.Leu966Pro) single nucleotide variant FMN2-related disorder [RCV003937772]|Intellectual disability, autosomal recessive 47 [RCV002470813]|not provided [RCV004691111]|not specified [RCV000203051] Chr1:240207709 [GRCh38]
Chr1:240371009 [GRCh37]
Chr1:1q43		 benign|likely benign|uncertain significance
NM_020066.5(FMN2):c.1966C>T (p.Arg656Cys) single nucleotide variant not specified [RCV000203072] Chr1:240188242 [GRCh38]
Chr1:240351542 [GRCh37]
Chr1:1q43		 uncertain significance
GRCh38/hg38 1q43(chr1:239288025-242458053)x1 copy number loss See cases [RCV000141690] Chr1:239288025..242458053 [GRCh38]
Chr1:239451325..242621355 [GRCh37]
Chr1:237517948..240687978 [NCBI36]
Chr1:1q43		 pathogenic
GRCh38/hg38 1q42.12-44(chr1:225438480-248787200)x3 copy number gain See cases [RCV000142448] Chr1:225438480..248787200 [GRCh38]
Chr1:225626182..249060210 [GRCh37]
Chr1:223692805..247048022 [NCBI36]
Chr1:1q42.12-44		 pathogenic
GRCh38/hg38 1q43-44(chr1:237643281-248918469)x1 copy number loss See cases [RCV000142518] Chr1:237643281..248918469 [GRCh38]
Chr1:237806581..249212668 [GRCh37]
Chr1:235873204..247179291 [NCBI36]
Chr1:1q43-44		 pathogenic
GRCh38/hg38 1q43-44(chr1:238192880-248930485)x1 copy number loss See cases [RCV000143374] Chr1:238192880..248930485 [GRCh38]
Chr1:238356180..249224684 [GRCh37]
Chr1:236422803..247191307 [NCBI36]
Chr1:1q43-44		 pathogenic
GRCh38/hg38 1q32.2-44(chr1:207346642-248930485)x3 copy number gain See cases [RCV000143727] Chr1:207346642..248930485 [GRCh38]
Chr1:207519987..249224684 [GRCh37]
Chr1:205586610..247191307 [NCBI36]
Chr1:1q32.2-44		 pathogenic
NM_020066.5(FMN2):c.1394dup (p.Ala466fs) duplication Intellectual disability, autosomal recessive 47 [RCV000150035] Chr1:240093499..240093500 [GRCh38]
Chr1:240256799..240256800 [GRCh37]
Chr1:1q43		 pathogenic
NM_020066.5(FMN2):c.2515del (p.Thr839fs) deletion Intellectual disability, autosomal recessive 47 [RCV000150036] Chr1:240207325 [GRCh38]
Chr1:240370625 [GRCh37]
Chr1:1q43		 pathogenic|not provided
GRCh38/hg38 1q43(chr1:240208521-240398427)x1 copy number loss Premature ovarian failure [RCV000225314] Chr1:240208521..240398427 [GRCh38]
Chr1:240371821..240561727 [GRCh37]
Chr1:1q43		 uncertain significance
NM_020066.5(FMN2):c.1481C>G (p.Pro494Arg) single nucleotide variant not specified [RCV000238860] Chr1:240093590 [GRCh38]
Chr1:240256890 [GRCh37]
Chr1:1q43		 uncertain significance
GRCh37/hg19 1q42.2-44(chr1:234050864-249213059)x3 copy number gain See cases [RCV000240034] Chr1:234050864..249213059 [GRCh37]
Chr1:1q42.2-44		 pathogenic
NM_020066.5(FMN2):c.883T>C (p.Ser295Pro) single nucleotide variant not provided [RCV000379986] Chr1:240092992 [GRCh38]
Chr1:240256292 [GRCh37]
Chr1:1q43		 conflicting interpretations of pathogenicity|uncertain significance
NM_020066.5(FMN2):c.2821G>A (p.Gly941Arg) single nucleotide variant not provided [RCV000356381]|not specified [RCV003987489] Chr1:240207633 [GRCh38]
Chr1:240370933 [GRCh37]
Chr1:1q43		 uncertain significance
NM_020066.5(FMN2):c.846C>A (p.Ser282Arg) single nucleotide variant not provided [RCV000323010] Chr1:240092955 [GRCh38]
Chr1:240256255 [GRCh37]
Chr1:1q43		 uncertain significance
NM_020066.5(FMN2):c.2363_2364del (p.Ile788fs) deletion not provided [RCV000262776] Chr1:240207175..240207176 [GRCh38]
Chr1:240370475..240370476 [GRCh37]
Chr1:1q43		 pathogenic
NM_020066.5(FMN2):c.1861C>T (p.Arg621Ter) single nucleotide variant Intellectual disability, autosomal recessive 47 [RCV001781125] Chr1:240177999 [GRCh38]
Chr1:240341299 [GRCh37]
Chr1:1q43		 likely pathogenic
NM_020066.5(FMN2):c.806C>G (p.Thr269Ser) single nucleotide variant Inborn genetic diseases [RCV002536487]|not provided [RCV000732707] Chr1:240092915 [GRCh38]
Chr1:240256215 [GRCh37]
Chr1:1q43		 uncertain significance
NM_020066.5(FMN2):c.4348C>T (p.Arg1450Ter) single nucleotide variant not provided [RCV000412853] Chr1:240329379 [GRCh38]
Chr1:240492679 [GRCh37]
Chr1:1q43		 likely pathogenic
NM_020066.5(FMN2):c.3131C>G (p.Pro1044Arg) single nucleotide variant not provided [RCV000729113] Chr1:240207943 [GRCh38]
Chr1:240371243 [GRCh37]
Chr1:1q43		 uncertain significance
NM_020066.5(FMN2):c.2572C>A (p.Pro858Thr) single nucleotide variant not provided [RCV000729116] Chr1:240207384 [GRCh38]
Chr1:240370684 [GRCh37]
Chr1:1q43		 conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 1q31.3-44(chr1:195483439-249213000)x3 copy number gain See cases [RCV000449172] Chr1:195483439..249213000 [GRCh37]
Chr1:1q31.3-44		 pathogenic
GRCh37/hg19 1q42.3-44(chr1:236515525-249224684)x3 copy number gain See cases [RCV000449458] Chr1:236515525..249224684 [GRCh37]
Chr1:1q42.3-44		 pathogenic
GRCh37/hg19 1q41-44(chr1:214697099-249224684)x3 copy number gain See cases [RCV000449210] Chr1:214697099..249224684 [GRCh37]
Chr1:1q41-44		 pathogenic
GRCh37/hg19 1q43(chr1:240453564-240599205)x1 copy number loss See cases [RCV000449319] Chr1:240453564..240599205 [GRCh37]
Chr1:1q43		 uncertain significance
GRCh37/hg19 1q43-44(chr1:237233879-249206548)x1 copy number loss See cases [RCV000447669] Chr1:237233879..249206548 [GRCh37]
Chr1:1q43-44		 pathogenic
GRCh37/hg19 1q43(chr1:240281058-240972716)x1 copy number loss See cases [RCV000447329] Chr1:240281058..240972716 [GRCh37]
Chr1:1q43		 uncertain significance
GRCh37/hg19 1q43-44(chr1:239781260-249224684)x3 copy number gain See cases [RCV000447584] Chr1:239781260..249224684 [GRCh37]
Chr1:1q43-44		 pathogenic
GRCh37/hg19 1q42.3-44(chr1:235374095-249224684)x1 copy number loss See cases [RCV000447426] Chr1:235374095..249224684 [GRCh37]
Chr1:1q42.3-44		 pathogenic
GRCh37/hg19 1q42.2-44(chr1:231670870-249213000)x3 copy number gain See cases [RCV000447654] Chr1:231670870..249213000 [GRCh37]
Chr1:1q42.2-44		 pathogenic
NM_020066.5(FMN2):c.2855C>G (p.Ala952Gly) single nucleotide variant not provided [RCV000422883] Chr1:240207667 [GRCh38]
Chr1:240370967 [GRCh37]
Chr1:1q43		 likely benign
NM_020066.5(FMN2):c.4123C>A (p.Leu1375Ile) single nucleotide variant Intellectual disability, autosomal recessive 47 [RCV001336475]|not provided [RCV000424100]|not specified [RCV000503182] Chr1:240258002 [GRCh38]
Chr1:240421302 [GRCh37]
Chr1:1q43		 uncertain significance
NM_020066.5(FMN2):c.953C>T (p.Pro318Leu) single nucleotide variant not provided [RCV000430444] Chr1:240093062 [GRCh38]
Chr1:240256362 [GRCh37]
Chr1:1q43		 uncertain significance
NM_020066.5(FMN2):c.778G>A (p.Ala260Thr) single nucleotide variant not provided [RCV000430664] Chr1:240092887 [GRCh38]
Chr1:240256187 [GRCh37]
Chr1:1q43		 benign
GRCh37/hg19 1q43(chr1:238823930-240973278)x3 copy number gain See cases [RCV000446001] Chr1:238823930..240973278 [GRCh37]
Chr1:1q43		 uncertain significance
GRCh37/hg19 1q42.2-43(chr1:232226609-241010904)x1 copy number loss See cases [RCV000447936] Chr1:232226609..241010904 [GRCh37]
Chr1:1q42.2-43		 pathogenic
GRCh37/hg19 1q43-44(chr1:240620284-247690417)x1 copy number loss See cases [RCV000512075] Chr1:240620284..247690417 [GRCh37]
Chr1:1q43-44		 pathogenic
NM_020066.5(FMN2):c.699A>C (p.Ala233=) single nucleotide variant not provided [RCV000942055]|not specified [RCV000503312] Chr1:240092808 [GRCh38]
Chr1:240256108 [GRCh37]
Chr1:1q43		 likely benign
NM_020066.5(FMN2):c.2823A>C (p.Gly941=) single nucleotide variant FMN2-related disorder [RCV003915373]|not provided [RCV003419858]|not specified [RCV000501115] Chr1:240207635 [GRCh38]
Chr1:240370935 [GRCh37]
Chr1:1q43		 likely benign
NM_020066.5(FMN2):c.1808C>T (p.Ala603Val) single nucleotide variant not specified [RCV000501316] Chr1:240177946 [GRCh38]
Chr1:240341246 [GRCh37]
Chr1:1q43		 uncertain significance
NM_020066.5(FMN2):c.694C>G (p.Pro232Ala) single nucleotide variant not specified [RCV000501360] Chr1:240092803 [GRCh38]
Chr1:240256103 [GRCh37]
Chr1:1q43		 uncertain significance
NM_020066.5(FMN2):c.5072C>T (p.Ala1691Val) single nucleotide variant not provided [RCV003987569]|not specified [RCV000503602] Chr1:240472383 [GRCh38]
Chr1:240635683 [GRCh37]
Chr1:1q43		 uncertain significance|not provided
NM_020066.5(FMN2):c.531G>A (p.Ser177=) single nucleotide variant FMN2-related disorder [RCV003902772]|not provided [RCV000907705]|not specified [RCV000503506] Chr1:240092640 [GRCh38]
Chr1:240255940 [GRCh37]
Chr1:1q43		 benign|likely benign
NM_020066.5(FMN2):c.916A>G (p.Ser306Gly) single nucleotide variant not specified [RCV000503637] Chr1:240093025 [GRCh38]
Chr1:240256325 [GRCh37]
Chr1:1q43		 uncertain significance
NM_020066.5(FMN2):c.5136T>G (p.Ser1712=) single nucleotide variant Intellectual disability, autosomal recessive 47 [RCV002496948]|not provided [RCV000896278]|not specified [RCV000501545] Chr1:240472447 [GRCh38]
Chr1:240635747 [GRCh37]
Chr1:1q43		 benign|likely benign
NM_020066.5(FMN2):c.371C>T (p.Ser124Leu) single nucleotide variant not specified [RCV000501423] Chr1:240092480 [GRCh38]
Chr1:240255780 [GRCh37]
Chr1:1q43		 uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 copy number gain See cases [RCV000510383] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
NM_020066.5(FMN2):c.4619C>T (p.Ser1540Leu) single nucleotide variant FMN2-related disorder [RCV003935288]|Inborn genetic diseases [RCV002527252]|Intellectual disability, autosomal recessive 47 [RCV001336476]|Neurodevelopmental abnormality [RCV001264630]|not provided [RCV000899884]|not specified [RCV000499429] Chr1:240333921 [GRCh38]
Chr1:240497221 [GRCh37]
Chr1:1q43		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_020066.5(FMN2):c.4065+7A>G single nucleotide variant not provided [RCV000880958]|not specified [RCV000501741] Chr1:240211242 [GRCh38]
Chr1:240374542 [GRCh37]
Chr1:1q43		 likely benign|uncertain significance
NM_020066.5(FMN2):c.696T>C (p.Pro232=) single nucleotide variant FMN2-related disorder [RCV003925460]|not provided [RCV000882497]|not specified [RCV000501884] Chr1:240092805 [GRCh38]
Chr1:240256105 [GRCh37]
Chr1:1q43		 benign|likely benign
NM_020066.5(FMN2):c.1896C>T (p.Pro632=) single nucleotide variant FMN2-related disorder [RCV003960165]|not provided [RCV000964496]|not specified [RCV000504186] Chr1:240178034 [GRCh38]
Chr1:240341334 [GRCh37]
Chr1:1q43		 likely benign
NM_020066.5(FMN2):c.3174T>A (p.Leu1058=) single nucleotide variant FMN2-related disorder [RCV003962379]|not provided [RCV003419859]|not specified [RCV000499635] Chr1:240207986 [GRCh38]
Chr1:240371286 [GRCh37]
Chr1:1q43		 likely benign
NM_020066.5(FMN2):c.1689C>A (p.Ser563=) single nucleotide variant not provided [RCV000981827]|not specified [RCV000504362] Chr1:240123252 [GRCh38]
Chr1:240286552 [GRCh37]
Chr1:1q43		 likely benign
NM_020066.5(FMN2):c.1352T>A (p.Leu451Gln) single nucleotide variant FMN2-related disorder [RCV003942634]|not provided [RCV000907706]|not specified [RCV000504389] Chr1:240093461 [GRCh38]
Chr1:240256761 [GRCh37]
Chr1:1q43		 benign|likely benign|conflicting interpretations of pathogenicity
GRCh37/hg19 1q42.3-44(chr1:235797384-249224684)x1 copy number loss See cases [RCV000510546] Chr1:235797384..249224684 [GRCh37]
Chr1:1q42.3-44		 pathogenic
NM_020066.5(FMN2):c.1653G>A (p.Glu551=) single nucleotide variant not provided [RCV000926741]|not specified [RCV000502296] Chr1:240123216 [GRCh38]
Chr1:240286516 [GRCh37]
Chr1:1q43		 likely benign
NM_020066.5(FMN2):c.1259A>C (p.Lys420Thr) single nucleotide variant FMN2-related disorder [RCV003925461]|Intellectual disability, autosomal recessive 47 [RCV002470888]|not provided [RCV000515023]|not specified [RCV000502324] Chr1:240093368 [GRCh38]
Chr1:240256668 [GRCh37]
Chr1:1q43		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_020066.5(FMN2):c.1632G>A (p.Glu544=) single nucleotide variant not provided [RCV000935814]|not specified [RCV000500215] Chr1:240123195 [GRCh38]
Chr1:240286495 [GRCh37]
Chr1:1q43		 pathogenic|likely benign
NM_020066.5(FMN2):c.1030G>A (p.Asp344Asn) single nucleotide variant not specified [RCV000500254] Chr1:240093139 [GRCh38]
Chr1:240256439 [GRCh37]
Chr1:1q43		 likely benign
NM_020066.5(FMN2):c.659AGC[7] (p.Gln225dup) microsatellite not provided [RCV000961942]|not specified [RCV000500434] Chr1:240092766..240092767 [GRCh38]
Chr1:240256066..240256067 [GRCh37]
Chr1:1q43		 benign
NM_020066.5(FMN2):c.1884A>G (p.Pro628=) single nucleotide variant not provided [RCV000942056]|not specified [RCV000502745] Chr1:240178022 [GRCh38]
Chr1:240341322 [GRCh37]
Chr1:1q43		 likely benign
GRCh37/hg19 1q42.2-43(chr1:234605553-240932205)x1 copy number loss See cases [RCV000510599] Chr1:234605553..240932205 [GRCh37]
Chr1:1q42.2-43		 pathogenic
NM_020066.5(FMN2):c.4068T>C (p.Val1356=) single nucleotide variant FMN2-related disorder [RCV003902773]|not provided [RCV000913044]|not specified [RCV000500550] Chr1:240257947 [GRCh38]
Chr1:240421247 [GRCh37]
Chr1:1q43		 likely benign|uncertain significance
GRCh37/hg19 1q43(chr1:240023337-240625982)x3 copy number gain See cases [RCV000510616] Chr1:240023337..240625982 [GRCh37]
Chr1:1q43		 likely benign
NM_020066.5(FMN2):c.2886A>G (p.Ala962=) single nucleotide variant FMN2-related disorder [RCV003979890]|Intellectual disability, autosomal recessive 47 [RCV003492084]|not provided [RCV004711133]|not specified [RCV000503213] Chr1:240207698 [GRCh38]
Chr1:240370998 [GRCh37]
Chr1:1q43		 likely benign
NM_020066.5(FMN2):c.547A>T (p.Ile183Phe) single nucleotide variant Intellectual disability, autosomal recessive 47 [RCV000678303]|not provided [RCV000493557] Chr1:240092656 [GRCh38]
Chr1:240255956 [GRCh37]
Chr1:1q43		 likely pathogenic
GRCh37/hg19 1q42.11-44(chr1:224105294-249224684)x3 copy number gain See cases [RCV000510981] Chr1:224105294..249224684 [GRCh37]
Chr1:1q42.11-44		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
NM_020066.5(FMN2):c.148A>C (p.Lys50Gln) single nucleotide variant Inborn genetic diseases [RCV003255067] Chr1:240092257 [GRCh38]
Chr1:240255557 [GRCh37]
Chr1:1q43		 uncertain significance
NM_020066.5(FMN2):c.3314T>A (p.Val1105Glu) single nucleotide variant not provided [RCV000594414] Chr1:240208126 [GRCh38]
Chr1:240371426 [GRCh37]
Chr1:1q43		 uncertain significance
NM_020066.5(FMN2):c.893G>A (p.Gly298Asp) single nucleotide variant not provided [RCV000950633]|not specified [RCV000598288] Chr1:240093002 [GRCh38]
Chr1:240256302 [GRCh37]
Chr1:1q43		 benign|likely benign
NM_020066.5(FMN2):c.1605C>G (p.Asn535Lys) single nucleotide variant Inborn genetic diseases [RCV003264528] Chr1:240093714 [GRCh38]
Chr1:240257014 [GRCh37]
Chr1:1q43		 uncertain significance
NM_020066.5(FMN2):c.4150C>T (p.His1384Tyr) single nucleotide variant not provided [RCV003328054] Chr1:240258029 [GRCh38]
Chr1:240421329 [GRCh37]
Chr1:1q43		 uncertain significance
NM_020066.5(FMN2):c.2657T>G (p.Met886Arg) single nucleotide variant FMN2-related disorder [RCV003905286]|not provided [RCV000514333] Chr1:240207469 [GRCh38]
Chr1:240370769 [GRCh37]
Chr1:1q43		 benign|likely benign
NM_020066.5(FMN2):c.1262C>A (p.Thr421Asn) single nucleotide variant Inborn genetic diseases [RCV003282287] Chr1:240093371 [GRCh38]
Chr1:240256671 [GRCh37]
Chr1:1q43		 uncertain significance
NM_020066.5(FMN2):c.3940A>G (p.Ile1314Val) single nucleotide variant Inborn genetic diseases [RCV003270351] Chr1:240211110 [GRCh38]
Chr1:240374410 [GRCh37]
Chr1:1q43		 uncertain significance
NM_020066.5(FMN2):c.1747A>G (p.Asn583Asp) single nucleotide variant Inborn genetic diseases [RCV003252989] Chr1:240123310 [GRCh38]
Chr1:240286610 [GRCh37]
Chr1:1q43		 uncertain significance
NM_020066.5(FMN2):c.2979C>T (p.Pro993=) single nucleotide variant FMN2-related disorder [RCV003901007]|not provided [RCV003312158] Chr1:240207791 [GRCh38]
Chr1:240371091 [GRCh37]
Chr1:1q43		 likely benign
NM_020066.5(FMN2):c.742G>A (p.Gly248Ser) single nucleotide variant Inborn genetic diseases [RCV003266848] Chr1:240092851 [GRCh38]
Chr1:240256151 [GRCh37]
Chr1:1q43		 uncertain significance
GRCh37/hg19 1q43(chr1:239569530-241526991)x3 copy number gain See cases [RCV000512448] Chr1:239569530..241526991 [GRCh37]
Chr1:1q43		 uncertain significance
GRCh37/hg19 1q43(chr1:237672980-240999398)x1 copy number loss See cases [RCV000512307] Chr1:237672980..240999398 [GRCh37]
Chr1:1q43		 uncertain significance
GRCh37/hg19 1q41-44(chr1:218252551-249224684)x3 copy number gain not provided [RCV000684700] Chr1:218252551..249224684 [GRCh37]
Chr1:1q41-44		 pathogenic
GRCh37/hg19 1q42.13-44(chr1:228529973-249181598)x3 copy number gain not provided [RCV000684707] Chr1:228529973..249181598 [GRCh37]
Chr1:1q42.13-44		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 copy number gain not provided [RCV000736295] Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 copy number gain not provided [RCV000736305] Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1q42.2-44(chr1:232232335-249218992)x3 copy number gain not provided [RCV000749394] Chr1:232232335..249218992 [GRCh37]
Chr1:1q42.2-44		 pathogenic
GRCh37/hg19 1q43-44(chr1:236617216-244515378)x1 copy number loss not provided [RCV000749402] Chr1:236617216..244515378 [GRCh37]
Chr1:1q43-44		 pathogenic
GRCh37/hg19 1q43(chr1:240370629-240394714)x3 copy number gain not provided [RCV000736918] Chr1:240370629..240394714 [GRCh37]
Chr1:1q43		 benign
GRCh37/hg19 1q43(chr1:240370629-240396842)x3 copy number gain not provided [RCV000736919] Chr1:240370629..240396842 [GRCh37]
Chr1:1q43		 benign
GRCh37/hg19 1q43(chr1:240370629-240403189)x3 copy number gain not provided [RCV000736920] Chr1:240370629..240403189 [GRCh37]
Chr1:1q43		 benign
GRCh37/hg19 1q43(chr1:240392009-240394714)x3 copy number gain not provided [RCV000736921] Chr1:240392009..240394714 [GRCh37]
Chr1:1q43		 benign
GRCh37/hg19 1q43(chr1:240392009-240402395)x3 copy number gain not provided [RCV000736922] Chr1:240392009..240402395 [GRCh37]
Chr1:1q43		 benign
GRCh37/hg19 1q43(chr1:240392009-240403189)x3 copy number gain not provided [RCV000736923] Chr1:240392009..240403189 [GRCh37]
Chr1:1q43		 benign
GRCh37/hg19 1q43(chr1:240392219-240403189)x3 copy number gain not provided [RCV000736924] Chr1:240392219..240403189 [GRCh37]
Chr1:1q43		 benign
GRCh37/hg19 1q43(chr1:240393269-240403189)x3 copy number gain not provided [RCV000736925] Chr1:240393269..240403189 [GRCh37]
Chr1:1q43		 benign
NM_020066.5(FMN2):c.708C>G (p.Pro236=) single nucleotide variant not provided [RCV000977869] Chr1:240092817 [GRCh38]
Chr1:240256117 [GRCh37]
Chr1:1q43		 likely benign
NM_020066.5(FMN2):c.1782+8G>A single nucleotide variant FMN2-related disorder [RCV003960718]|not provided [RCV000961943] Chr1:240123353 [GRCh38]
Chr1:240286653 [GRCh37]
Chr1:1q43		 benign
NM_020066.5(FMN2):c.1656C>T (p.Asn552=) single nucleotide variant not provided [RCV000895335] Chr1:240123219 [GRCh38]
Chr1:240286519 [GRCh37]
Chr1:1q43		 likely benign
NM_020066.5(FMN2):c.1615+10C>G single nucleotide variant not provided [RCV000938561] Chr1:240093734 [GRCh38]
Chr1:240257034 [GRCh37]
Chr1:1q43		 likely benign
NM_020066.5(FMN2):c.2873C>T (p.Pro958Leu) single nucleotide variant not provided [RCV001668112] Chr1:240207685 [GRCh38]
Chr1:240370985 [GRCh37]
Chr1:1q43		 benign
NM_020066.5(FMN2):c.4403G>A (p.Arg1468His) single nucleotide variant Intellectual disability, autosomal recessive 47 [RCV001702331]|not provided [RCV004714303] Chr1:240329434 [GRCh38]
Chr1:240492734 [GRCh37]
Chr1:1q43		 benign
NM_020066.5(FMN2):c.1962A>G (p.Gln654=) single nucleotide variant not provided [RCV000901539] Chr1:240188238 [GRCh38]
Chr1:240351538 [GRCh37]
Chr1:1q43		 benign
NM_020066.5(FMN2):c.4926G>A (p.Thr1642=) single nucleotide variant not provided [RCV000928099] Chr1:240438076 [GRCh38]
Chr1:240601376 [GRCh37]
Chr1:1q43		 likely benign
NM_020066.5(FMN2):c.84G>A (p.Gly28=) single nucleotide variant not provided [RCV000903630] Chr1:240092193 [GRCh38]
Chr1:240255493 [GRCh37]
Chr1:1q43		 likely benign
NM_020066.5(FMN2):c.4236C>T (p.Leu1412=) single nucleotide variant FMN2-related disorder [RCV003953377]|not provided [RCV000981331] Chr1:240329096 [GRCh38]
Chr1:240492396 [GRCh37]
Chr1:1q43		 likely benign
NM_020066.5(FMN2):c.617AGC[8] (p.Gln212dup) microsatellite FMN2-related disorder [RCV003940428]|not provided [RCV000881178] Chr1:240092723..240092724 [GRCh38]
Chr1:240256023..240256024 [GRCh37]
Chr1:1q43		 benign|likely benign
NM_020066.5(FMN2):c.3442A>G (p.Arg1148Gly) single nucleotide variant Intellectual disability, autosomal recessive 47 [RCV001702751]|not provided [RCV000946576] Chr1:240208254 [GRCh38]
Chr1:240371554 [GRCh37]
Chr1:1q43		 benign
NM_020066.5(FMN2):c.162del (p.Gly55fs) deletion Aganglionic megacolon [RCV000984779]|Intellectual disability, autosomal recessive 47 [RCV001261599] Chr1:240092271 [GRCh38]
Chr1:240255571 [GRCh37]
Chr1:1q43		 benign|uncertain significance
NM_020066.5(FMN2):c.426C>T (p.Thr142=) single nucleotide variant not provided [RCV000970814]|not specified [RCV001819111] Chr1:240092535 [GRCh38]
Chr1:240255835 [GRCh37]
Chr1:1q43		 benign
NM_020066.5(FMN2):c.270C>T (p.Ala90=) single nucleotide variant not provided [RCV000906799] Chr1:240092379 [GRCh38]
Chr1:240255679 [GRCh37]
Chr1:1q43		 likely benign
NM_020066.5(FMN2):c.525C>A (p.Thr175=) single nucleotide variant not provided [RCV000898570] Chr1:240092634 [GRCh38]
Chr1:240255934 [GRCh37]
Chr1:1q43		 likely benign
NM_020066.5(FMN2):c.1014C>T (p.Pro338=) single nucleotide variant not provided [RCV000917823] Chr1:240093123 [GRCh38]
Chr1:240256423 [GRCh37]
Chr1:1q43		 likely benign
NM_020066.5(FMN2):c.1200C>T (p.Ser400=) single nucleotide variant not provided [RCV000885998] Chr1:240093309 [GRCh38]
Chr1:240256609 [GRCh37]
Chr1:1q43		 likely benign
NM_020066.5(FMN2):c.4858+8C>A single nucleotide variant Intellectual disability [RCV001251753] Chr1:240355916 [GRCh38]
Chr1:240519216 [GRCh37]
Chr1:1q43		 likely benign
NM_020066.5(FMN2):c.2201G>A (p.Arg734Gln) single nucleotide variant Intellectual disability [RCV001251754] Chr1:240207013 [GRCh38]
Chr1:240370313 [GRCh37]
Chr1:1q43		 likely benign
NM_020066.5(FMN2):c.1380C>T (p.Ala460=) single nucleotide variant not provided [RCV000915951] Chr1:240093489 [GRCh38]
Chr1:240256789 [GRCh37]
Chr1:1q43		 likely benign
GRCh37/hg19 1q43(chr1:239910959-240298869)x3 copy number gain not provided [RCV000848296] Chr1:239910959..240298869 [GRCh37]
Chr1:1q43		 uncertain significance
GRCh37/hg19 1q43-44(chr1:238669293-249224684)x3 copy number gain not provided [RCV000849904] Chr1:238669293..249224684 [GRCh37]
Chr1:1q43-44		 pathogenic
GRCh37/hg19 1q43(chr1:240224262-240317038)x1 copy number loss not provided [RCV000848625] Chr1:240224262..240317038 [GRCh37]
Chr1:1q43		 pathogenic
Single allele deletion Hereditary leiomyomatosis and renal cell cancer [RCV000850150] Chr1:237244834..242310908 [GRCh37]
Chr1:1q43		 pathogenic
NM_020066.5(FMN2):c.1378G>A (p.Ala460Thr) single nucleotide variant Intellectual disability, autosomal recessive 47 [RCV000790947] Chr1:240093487 [GRCh38]
Chr1:240256787 [GRCh37]
Chr1:1q43		 uncertain significance
Single allele deletion Neurodevelopmental disorder [RCV000787399] Chr1:238817623..244138230 [GRCh37]
Chr1:1q43-44		 likely pathogenic
Single allele deletion Neurodevelopmental disorder [RCV000787415] Chr1:239423954..241162538 [GRCh37]
Chr1:1q43		 uncertain significance
NM_020066.5(FMN2):c.-1C>T single nucleotide variant not provided [RCV003314992] Chr1:240092109 [GRCh38]
Chr1:240255409 [GRCh37]
Chr1:1q43		 uncertain significance
NM_020066.5(FMN2):c.3132G>T (p.Pro1044=) single nucleotide variant FMN2-related disorder [RCV003928974]|not provided [RCV003312159] Chr1:240207944 [GRCh38]
Chr1:240371244 [GRCh37]
Chr1:1q43		 likely benign
GRCh37/hg19 1q42.3-44(chr1:235582580-249224684)x3 copy number gain not provided [RCV000846184] Chr1:235582580..249224684 [GRCh37]
Chr1:1q42.3-44		 pathogenic
NM_020066.5(FMN2):c.3183G>A (p.Ala1061=) single nucleotide variant not provided [RCV001091226] Chr1:240207995 [GRCh38]
Chr1:240371295 [GRCh37]
Chr1:1q43		 likely benign
NM_020066.5(FMN2):c.1958C>T (p.Pro653Leu) single nucleotide variant not provided [RCV000994323] Chr1:240188234 [GRCh38]
Chr1:240351534 [GRCh37]
Chr1:1q43		 uncertain significance
GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3 copy number gain not provided [RCV000845852] Chr1:182388773..249111240 [GRCh37]
Chr1:1q25.3-44		 pathogenic
NM_020066.5(FMN2):c.4631G>A (p.Arg1544Gln) single nucleotide variant Inborn genetic diseases [RCV003245891] Chr1:240333933 [GRCh38]
Chr1:240497233 [GRCh37]
Chr1:1q43		 uncertain significance
NM_020066.5(FMN2):c.1289A>G (p.Asn430Ser) single nucleotide variant Inborn genetic diseases [RCV003248105] Chr1:240093398 [GRCh38]
Chr1:240256698 [GRCh37]
Chr1:1q43		 uncertain significance
GRCh37/hg19 1q42.13-43(chr1:228832737-240993877)x3 copy number gain not provided [RCV001005187] Chr1:228832737..240993877 [GRCh37]
Chr1:1q42.13-43		 pathogenic
NM_020066.5(FMN2):c.1622C>T (p.Thr541Met) single nucleotide variant Inborn genetic diseases [RCV003273179] Chr1:240123185 [GRCh38]
Chr1:240286485 [GRCh37]
Chr1:1q43		 uncertain significance
NM_020066.5(FMN2):c.1413C>A (p.Ala471=) single nucleotide variant Intellectual disability, autosomal recessive 47 [RCV001702032]|not provided [RCV001779325] Chr1:240093522 [GRCh38]
Chr1:240256822 [GRCh37]
Chr1:1q43		 benign
NM_020066.5(FMN2):c.2517C>G (p.Thr839=) single nucleotide variant Intellectual disability, autosomal recessive 47 [RCV001702033]|not provided [RCV004715537] Chr1:240207329 [GRCh38]
Chr1:240370629 [GRCh37]
Chr1:1q43		 benign
NM_020066.5(FMN2):c.3078C>T (p.Pro1026=) single nucleotide variant not provided [RCV001532585] Chr1:240207890 [GRCh38]
Chr1:240371190 [GRCh37]
Chr1:1q43		 likely benign
NM_020066.5(FMN2):c.3492A>T (p.Pro1164=) single nucleotide variant FMN2-related disorder [RCV003948576]|not provided [RCV001541815] Chr1:240208304 [GRCh38]
Chr1:240371604 [GRCh37]
Chr1:1q43		 benign|likely benign
NM_020066.5(FMN2):c.4677G>C (p.Leu1559=) single nucleotide variant not provided [RCV000929636] Chr1:240334141 [GRCh38]
Chr1:240497441 [GRCh37]
Chr1:1q43		 likely benign
NM_020066.5(FMN2):c.468C>T (p.Gly156=) single nucleotide variant not provided [RCV000944639] Chr1:240092577 [GRCh38]
Chr1:240255877 [GRCh37]
Chr1:1q43		 likely benign
NM_020066.5(FMN2):c.1869A>G (p.Pro623=) single nucleotide variant FMN2-related disorder [RCV003950836]|not provided [RCV000916549] Chr1:240178007 [GRCh38]
Chr1:240341307 [GRCh37]
Chr1:1q43		 likely benign
NM_020066.5(FMN2):c.4884A>G (p.Glu1628=) single nucleotide variant not provided [RCV000926777] Chr1:240392536 [GRCh38]
Chr1:240555836 [GRCh37]
Chr1:1q43		 likely benign
NM_020066.5(FMN2):c.4154-7T>C single nucleotide variant not provided [RCV000961113] Chr1:240294815 [GRCh38]
Chr1:240458115 [GRCh37]
Chr1:1q43		 likely benign
NM_020066.5(FMN2):c.4154-5C>T single nucleotide variant not provided [RCV000891167] Chr1:240294817 [GRCh38]
Chr1:240458117 [GRCh37]
Chr1:1q43		 likely benign
NM_020066.5(FMN2):c.1077G>A (p.Arg359=) single nucleotide variant not provided [RCV000912171] Chr1:240093186 [GRCh38]
Chr1:240256486 [GRCh37]
Chr1:1q43		 likely benign
NM_020066.5(FMN2):c.1358G>A (p.Arg453Gln) single nucleotide variant FMN2-related disorder [RCV003970389]|Inborn genetic diseases [RCV002540856]|not provided [RCV000913376] Chr1:240093467 [GRCh38]
Chr1:240256767 [GRCh37]
Chr1:1q43		 likely benign|uncertain significance
NM_020066.5(FMN2):c.363C>T (p.Leu121=) single nucleotide variant not provided [RCV000957526] Chr1:240092472 [GRCh38]
Chr1:240255772 [GRCh37]
Chr1:1q43		 benign
NM_020066.5(FMN2):c.3661C>T (p.Pro1221Ser) single nucleotide variant not provided [RCV003235964] Chr1:240208473 [GRCh38]
Chr1:240371773 [GRCh37]
Chr1:1q43		 uncertain significance
NM_020066.5(FMN2):c.1537G>C (p.Gly513Arg) single nucleotide variant Inborn genetic diseases [RCV003276601] Chr1:240093646 [GRCh38]
Chr1:240256946 [GRCh37]
Chr1:1q43		 uncertain significance
NM_020066.5(FMN2):c.1748A>C (p.Asn583Thr) single nucleotide variant Intellectual disability, autosomal recessive 47 [RCV002471898] Chr1:240123311 [GRCh38]
Chr1:240286611 [GRCh37]
Chr1:1q43		 uncertain significance
NM_020066.5(FMN2):c.3560C>T (p.Pro1187Leu) single nucleotide variant Intellectual disability [RCV001263260]|Intellectual disability, autosomal recessive 47 [RCV003492237]|not provided [RCV004691401] Chr1:240208372 [GRCh38]
Chr1:240371672 [GRCh37]
Chr1:1q43		 uncertain significance
GRCh37/hg19 1q43(chr1:239922136-240308244)x3 copy number gain not provided [RCV001005198] Chr1:239922136..240308244 [GRCh37]
Chr1:1q43		 likely benign
NM_020066.5(FMN2):c.1948dup (p.Ser650fs) duplication not provided [RCV001659064] Chr1:240188221..240188222 [GRCh38]
Chr1:240351521..240351522 [GRCh37]
Chr1:1q43		 likely pathogenic
NM_020066.5(FMN2):c.4591A>T (p.Ser1531Cys) single nucleotide variant Intellectual disability [RCV001251752] Chr1:240333893 [GRCh38]
Chr1:240497193 [GRCh37]
Chr1:1q43		 likely benign
NM_020066.5(FMN2):c.3186C>A (p.Gly1062=) single nucleotide variant FMN2-related disorder [RCV003898079]|not provided [RCV001091227] Chr1:240207998 [GRCh38]
Chr1:240371298 [GRCh37]
Chr1:1q43		 likely benign
GRCh37/hg19 1q32.1-44(chr1:204045948-249218992)x3 copy number gain See cases [RCV001007407] Chr1:204045948..249218992 [GRCh37]
Chr1:1q32.1-44		 pathogenic
GRCh37/hg19 1q32.2-44(chr1:210152794-249218992)x3 copy number gain See cases [RCV001194578] Chr1:210152794..249218992 [GRCh37]
Chr1:1q32.2-44		 pathogenic
NM_020066.5(FMN2):c.5073C>T (p.Ala1691=) single nucleotide variant not provided [RCV001532105] Chr1:240472384 [GRCh38]
Chr1:240635684 [GRCh37]
Chr1:1q43		 likely benign
NM_020066.5(FMN2):c.3390C>T (p.Pro1130=) single nucleotide variant FMN2-related disorder [RCV003931162]|not provided [RCV001532586] Chr1:240208202 [GRCh38]
Chr1:240371502 [GRCh37]
Chr1:1q43		 likely benign
NM_020066.5(FMN2):c.3216G>A (p.Ala1072=) single nucleotide variant Intellectual disability, autosomal recessive 47 [RCV001702330]|not provided [RCV004714302] Chr1:240208028 [GRCh38]
Chr1:240371328 [GRCh37]
Chr1:1q43		 benign
NM_020066.5(FMN2):c.3600T>A (p.Pro1200=) single nucleotide variant not provided [RCV001200567] Chr1:240208412 [GRCh38]
Chr1:240371712 [GRCh37]
Chr1:1q43		 likely benign
GRCh37/hg19 1q43(chr1:239692288-240383870)x1 copy number loss not provided [RCV001005196] Chr1:239692288..240383870 [GRCh37]
Chr1:1q43		 uncertain significance
NM_020066.5(FMN2):c.2910T>A (p.Leu970=) single nucleotide variant not provided [RCV001172027] Chr1:240207722 [GRCh38]
Chr1:240371022 [GRCh37]
Chr1:1q43		 likely benign
NM_020066.5(FMN2):c.2188G>A (p.Glu730Lys) single nucleotide variant Intellectual disability [RCV001252503] Chr1:240207000 [GRCh38]
Chr1:240370300 [GRCh37]
Chr1:1q43		 likely benign
NM_020066.5(FMN2):c.3825G>T (p.Gly1275=) single nucleotide variant Neurodevelopmental abnormality [RCV001264629] Chr1:240208637 [GRCh38]
Chr1:240371937 [GRCh37]
Chr1:1q43		 likely benign
NM_020066.5(FMN2):c.1618C>T (p.Arg540Ter) single nucleotide variant Intellectual disability, autosomal recessive 47 [RCV001329728] Chr1:240123181 [GRCh38]
Chr1:240286481 [GRCh37]
Chr1:1q43		 pathogenic
NM_020066.5(FMN2):c.575A>T (p.Gln192Leu) single nucleotide variant Intellectual disability, autosomal recessive 47 [RCV001336477]|not specified [RCV003490198] Chr1:240092684 [GRCh38]
Chr1:240255984 [GRCh37]
Chr1:1q43		 uncertain significance
NM_020066.5(FMN2):c.1244C>T (p.Thr415Ile) single nucleotide variant Inborn genetic diseases [RCV003365337]|Intellectual disability, autosomal recessive 47 [RCV001335949] Chr1:240093353 [GRCh38]
Chr1:240256653 [GRCh37]
Chr1:1q43		 uncertain significance
NM_020066.5(FMN2):c.2753C>T (p.Ala918Val) single nucleotide variant Intellectual disability, autosomal recessive 47 [RCV001335953] Chr1:240207565 [GRCh38]
Chr1:240370865 [GRCh37]
Chr1:1q43		 uncertain significance
NM_020066.5(FMN2):c.629A>G (p.Gln210Arg) single nucleotide variant Inborn genetic diseases [RCV002546780]|Intellectual disability, autosomal recessive 47 [RCV001336478] Chr1:240092738 [GRCh38]
Chr1:240256038 [GRCh37]
Chr1:1q43		 uncertain significance
NM_020066.5(FMN2):c.1550del (p.Pro517fs) deletion Intellectual disability, autosomal recessive 47 [RCV001329727] Chr1:240093656 [GRCh38]
Chr1:240256956 [GRCh37]
Chr1:1q43		 pathogenic
NC_000001.10:g.(?_130980840)_(248900000_?)dup duplication Gastrointestinal stromal tumor [RCV001300221]|Parathyroid carcinoma [RCV001341077] Chr1:130980840..248900000 [GRCh37]
Chr1:1q12-44		 uncertain significance
NM_020066.5(FMN2):c.3131C>T (p.Pro1044Leu) single nucleotide variant Intellectual disability, autosomal recessive 47 [RCV001335954]|not provided [RCV003416226] Chr1:240207943 [GRCh38]
Chr1:240371243 [GRCh37]
Chr1:1q43		 uncertain significance
NM_020066.5(FMN2):c.2200C>T (p.Arg734Trp) single nucleotide variant Intellectual disability, autosomal recessive 47 [RCV001335950] Chr1:240207012 [GRCh38]
Chr1:240370312 [GRCh37]
Chr1:1q43		 uncertain significance
NM_020066.5(FMN2):c.2240C>T (p.Ser747Phe) single nucleotide variant Intellectual disability, autosomal recessive 47 [RCV001335951] Chr1:240207052 [GRCh38]
Chr1:240370352 [GRCh37]
Chr1:1q43		 uncertain significance
NM_020066.5(FMN2):c.4865T>C (p.Ile1622Thr) single nucleotide variant Intellectual disability, autosomal recessive 47 [RCV001329729] Chr1:240392517 [GRCh38]
Chr1:240555817 [GRCh37]
Chr1:1q43		 uncertain significance
NM_020066.5(FMN2):c.3555T>C (p.Pro1185=) single nucleotide variant not provided [RCV001312138] Chr1:240208367 [GRCh38]
Chr1:240371667 [GRCh37]
Chr1:1q43		 likely benign
NM_020066.5(FMN2):c.2297G>A (p.Arg766His) single nucleotide variant Inborn genetic diseases [RCV002546752]|Intellectual disability, autosomal recessive 47 [RCV001335952] Chr1:240207109 [GRCh38]
Chr1:240370409 [GRCh37]
Chr1:1q43		 likely benign|uncertain significance
NM_020066.5(FMN2):c.2917G>A (p.Ala973Thr) single nucleotide variant not provided [RCV001312137] Chr1:240207729 [GRCh38]
Chr1:240371029 [GRCh37]
Chr1:1q43		 likely benign
GRCh37/hg19 1q43-44(chr1:240554955-247342593) copy number loss Corpus callosum, agenesis of [RCV001352645] Chr1:240554955..247342593 [GRCh37]
Chr1:1q43-44		 pathogenic
NM_020066.5(FMN2):c.3396T>A (p.Pro1132=) single nucleotide variant not provided [RCV001532587] Chr1:240208208 [GRCh38]
Chr1:240371508 [GRCh37]
Chr1:1q43		 likely benign
NM_020066.5(FMN2):c.3405T>A (p.Leu1135=) single nucleotide variant FMN2-related disorder [RCV003931163]|not provided [RCV001532588] Chr1:240208217 [GRCh38]
Chr1:240371517 [GRCh37]
Chr1:1q43		 likely benign
NM_020066.5(FMN2):c.162CGG[4] (p.Gly59del) microsatellite Intellectual disability, autosomal recessive 47 [RCV001703305] Chr1:240092269..240092271 [GRCh38]
Chr1:240255569..240255571 [GRCh37]
Chr1:1q43		 benign
NM_020066.5(FMN2):c.1830A>G (p.Ser610=) single nucleotide variant Intellectual disability, autosomal recessive 47 [RCV001703306]|not provided [RCV004714301] Chr1:240177968 [GRCh38]
Chr1:240341268 [GRCh37]
Chr1:1q43		 benign
NM_020066.5(FMN2):c.1224C>G (p.Phe408Leu) single nucleotide variant not provided [RCV001726794] Chr1:240093333 [GRCh38]
Chr1:240256633 [GRCh37]
Chr1:1q43		 uncertain significance
NM_020066.5(FMN2):c.2787A>G (p.Ala929=) single nucleotide variant not provided [RCV001726795] Chr1:240207599 [GRCh38]
Chr1:240370899 [GRCh37]
Chr1:1q43		 likely benign
NM_020066.5(FMN2):c.3324T>C (p.Pro1108=) single nucleotide variant FMN2-related disorder [RCV003910976]|not provided [RCV001726796] Chr1:240208136 [GRCh38]
Chr1:240371436 [GRCh37]
Chr1:1q43		 likely benign
NM_020066.5(FMN2):c.1100C>T (p.Ala367Val) single nucleotide variant Inborn genetic diseases [RCV004040170]|not provided [RCV001772810] Chr1:240093209 [GRCh38]
Chr1:240256509 [GRCh37]
Chr1:1q43		 uncertain significance
NM_020066.5(FMN2):c.4057G>A (p.Ala1353Thr) single nucleotide variant not provided [RCV001772828] Chr1:240211227 [GRCh38]
Chr1:240374527 [GRCh37]
Chr1:1q43		 uncertain significance
NM_020066.5(FMN2):c.2834C>T (p.Pro945Leu) single nucleotide variant not provided [RCV003237694] Chr1:240207646 [GRCh38]
Chr1:240370946 [GRCh37]
Chr1:1q43		 uncertain significance
NM_020066.5(FMN2):c.399C>T (p.Thr133=) single nucleotide variant not specified [RCV001817363] Chr1:240092508 [GRCh38]
Chr1:240255808 [GRCh37]
Chr1:1q43		 likely benign
NM_020066.5(FMN2):c.3171T>A (p.Pro1057=) single nucleotide variant not provided [RCV001816080] Chr1:240207983 [GRCh38]
Chr1:240371283 [GRCh37]
Chr1:1q43		 likely benign
NM_020066.5(FMN2):c.3297G>T (p.Pro1099=) single nucleotide variant FMN2-related disorder [RCV003968564]|not provided [RCV001816081] Chr1:240208109 [GRCh38]
Chr1:240371409 [GRCh37]
Chr1:1q43		 likely benign
NM_020066.5(FMN2):c.1208C>T (p.Pro403Leu) single nucleotide variant not specified [RCV001817299] Chr1:240093317 [GRCh38]
Chr1:240256617 [GRCh37]
Chr1:1q43		 uncertain significance
NM_020066.5(FMN2):c.1978G>C (p.Val660Leu) single nucleotide variant not specified [RCV001817322] Chr1:240188254 [GRCh38]
Chr1:240351554 [GRCh37]
Chr1:1q43		 uncertain significance
NM_020066.5(FMN2):c.681G>A (p.Gln227=) single nucleotide variant not specified [RCV001820240] Chr1:240092790 [GRCh38]
Chr1:240256090 [GRCh37]
Chr1:1q43		 likely benign
NM_020066.5(FMN2):c.1657G>A (p.Gly553Arg) single nucleotide variant Inborn genetic diseases [RCV004040979]|not specified [RCV001820261] Chr1:240123220 [GRCh38]
Chr1:240286520 [GRCh37]
Chr1:1q43		 uncertain significance
NM_020066.5(FMN2):c.1931-4C>A single nucleotide variant not specified [RCV001817321] Chr1:240188203 [GRCh38]
Chr1:240351503 [GRCh37]
Chr1:1q43		 uncertain significance
GRCh37/hg19 1q42.2-43(chr1:232226609-241010904) copy number loss not specified [RCV002052912] Chr1:232226609..241010904 [GRCh37]
Chr1:1q42.2-43		 pathogenic
GRCh37/hg19 1q43(chr1:238823930-240973278) copy number gain not specified [RCV002052978] Chr1:238823930..240973278 [GRCh37]
Chr1:1q43		 uncertain significance
NM_020066.5(FMN2):c.1034C>T (p.Thr345Met) single nucleotide variant not provided [RCV002211137] Chr1:240093143 [GRCh38]
Chr1:240256443 [GRCh37]
Chr1:1q43		 uncertain significance
NM_020066.5(FMN2):c.3264T>A (p.Pro1088=) single nucleotide variant not provided [RCV002211141] Chr1:240208076 [GRCh38]
Chr1:240371376 [GRCh37]
Chr1:1q43		 likely benign
NM_020066.5(FMN2):c.2835G>A (p.Pro945=) single nucleotide variant not provided [RCV002211138] Chr1:240207647 [GRCh38]
Chr1:240370947 [GRCh37]
Chr1:1q43		 likely benign
NM_020066.5(FMN2):c.2928T>C (p.Pro976=) single nucleotide variant FMN2-related disorder [RCV003916384]|not provided [RCV002211139] Chr1:240207740 [GRCh38]
Chr1:240371040 [GRCh37]
Chr1:1q43		 likely benign
NM_020066.5(FMN2):c.2934A>T (p.Pro978=) single nucleotide variant FMN2-related disorder [RCV003916385]|not provided [RCV002211140] Chr1:240207746 [GRCh38]
Chr1:240371046 [GRCh37]
Chr1:1q43		 likely benign
NM_020066.5(FMN2):c.4666C>G (p.Leu1556Val) single nucleotide variant Intellectual disability, autosomal recessive 47 [RCV003144071] Chr1:240334130 [GRCh38]
Chr1:240497430 [GRCh37]
Chr1:1q43		 uncertain significance
NM_020066.5(FMN2):c.2895C>T (p.Pro965=) single nucleotide variant not provided [RCV004597596] Chr1:240207707 [GRCh38]
Chr1:240371007 [GRCh37]
Chr1:1q43		 likely benign
NM_020066.5(FMN2):c.4468G>T (p.Val1490Phe) single nucleotide variant Intellectual disability, autosomal recessive 47 [RCV003144069] Chr1:240330633 [GRCh38]
Chr1:240493933 [GRCh37]
Chr1:1q43		 uncertain significance
NM_020066.5(FMN2):c.3324TCC[1] (p.Pro1112del) microsatellite FMN2-related disorder [RCV003971213]|Intellectual disability, autosomal recessive 47 [RCV002502077]|not provided [RCV002262271] Chr1:240208134..240208136 [GRCh38]
Chr1:240371434..240371436 [GRCh37]
Chr1:1q43		 benign|likely benign
NM_020066.5(FMN2):c.731G>C (p.Gly244Ala) single nucleotide variant not provided [RCV003236093] Chr1:240092840 [GRCh38]
Chr1:240256140 [GRCh37]
Chr1:1q43		 uncertain significance
GRCh37/hg19 1q42.2-44(chr1:233012994-249206918)x1 copy number loss See cases [RCV002292708] Chr1:233012994..249206918 [GRCh37]
Chr1:1q42.2-44		 pathogenic
GRCh37/hg19 1q31.3-44(chr1:197867914-249224684)x3 copy number gain See cases [RCV002287837] Chr1:197867914..249224684 [GRCh37]
Chr1:1q31.3-44		 pathogenic
NM_020066.5(FMN2):c.384C>T (p.Ala128=) single nucleotide variant not provided [RCV002262270] Chr1:240092493 [GRCh38]
Chr1:240255793 [GRCh37]
Chr1:1q43		 likely benign
NM_020066.5(FMN2):c.3375C>T (p.Pro1125=) single nucleotide variant FMN2-related disorder [RCV003946466]|not provided [RCV003222661] Chr1:240208187 [GRCh38]
Chr1:240371487 [GRCh37]
Chr1:1q43		 likely benign
NM_020066.5(FMN2):c.4066G>C (p.Val1356Leu) single nucleotide variant Inborn genetic diseases [RCV003300214] Chr1:240257945 [GRCh38]
Chr1:240421245 [GRCh37]
Chr1:1q43		 uncertain significance
NM_020066.5(FMN2):c.884C>T (p.Ser295Phe) single nucleotide variant Intellectual disability, autosomal recessive 47 [RCV003148210] Chr1:240092993 [GRCh38]
Chr1:240256293 [GRCh37]
Chr1:1q43		 uncertain significance
NM_020066.5(FMN2):c.2806C>G (p.Pro936Ala) single nucleotide variant Intellectual disability, autosomal recessive 47 [RCV003144068] Chr1:240207618 [GRCh38]
Chr1:240370918 [GRCh37]
Chr1:1q43		 uncertain significance
NM_020066.5(FMN2):c.1054G>T (p.Asp352Tyr) single nucleotide variant Intellectual disability, autosomal recessive 47 [RCV003144070] Chr1:240093163 [GRCh38]
Chr1:240256463 [GRCh37]
Chr1:1q43		 uncertain significance
GRCh37/hg19 1q42.2-43(chr1:232732121-243338216)x1 copy number loss not provided [RCV002474585] Chr1:232732121..243338216 [GRCh37]
Chr1:1q42.2-43		 pathogenic
GRCh37/hg19 1q43-44(chr1:239910960-249224684)x1 copy number loss not provided [RCV002474504] Chr1:239910960..249224684 [GRCh37]
Chr1:1q43-44		 pathogenic
GRCh37/hg19 1q43(chr1:239652739-240352790)x3 copy number gain not provided [RCV002474781] Chr1:239652739..240352790 [GRCh37]
Chr1:1q43		 uncertain significance
GRCh37/hg19 1q42.2-43(chr1:232827966-240750334)x1 copy number loss not provided [RCV002474860] Chr1:232827966..240750334 [GRCh37]
Chr1:1q42.2-43		 uncertain significance
NM_020066.5(FMN2):c.3335C>G (p.Pro1112Arg) single nucleotide variant Inborn genetic diseases [RCV002972937] Chr1:240208147 [GRCh38]
Chr1:240371447 [GRCh37]
Chr1:1q43		 uncertain significance
NM_020066.5(FMN2):c.1372G>A (p.Ala458Thr) single nucleotide variant FMN2-related disorder [RCV003936685]|Inborn genetic diseases [RCV002729922] Chr1:240093481 [GRCh38]
Chr1:240256781 [GRCh37]
Chr1:1q43		 likely benign|uncertain significance
NM_020066.5(FMN2):c.3276C>T (p.Pro1092=) single nucleotide variant FMN2-related disorder [RCV003943413]|not provided [RCV002511622] Chr1:240208088 [GRCh38]
Chr1:240371388 [GRCh37]
Chr1:1q43		 likely benign
NM_020066.5(FMN2):c.4990A>G (p.Ile1664Val) single nucleotide variant Inborn genetic diseases [RCV002729359] Chr1:240438140 [GRCh38]
Chr1:240601440 [GRCh37]
Chr1:1q43		 uncertain significance
NM_020066.5(FMN2):c.2906C>G (p.Pro969Arg) single nucleotide variant Inborn genetic diseases [RCV002687082] Chr1:240207718 [GRCh38]
Chr1:240371018 [GRCh37]
Chr1:1q43		 uncertain significance
NM_020066.5(FMN2):c.1170C>A (p.Asp390Glu) single nucleotide variant Inborn genetic diseases [RCV002683136] Chr1:240093279 [GRCh38]
Chr1:240256579 [GRCh37]
Chr1:1q43		 uncertain significance
NM_020066.5(FMN2):c.4954G>A (p.Gly1652Arg) single nucleotide variant Inborn genetic diseases [RCV002818419] Chr1:240438104 [GRCh38]
Chr1:240601404 [GRCh37]
Chr1:1q43		 uncertain significance
NM_020066.5(FMN2):c.4388G>A (p.Ser1463Asn) single nucleotide variant Inborn genetic diseases [RCV002752157] Chr1:240329419 [GRCh38]
Chr1:240492719 [GRCh37]
Chr1:1q43		 uncertain significance
NM_020066.5(FMN2):c.3067C>A (p.Pro1023Thr) single nucleotide variant Inborn genetic diseases [RCV002752309] Chr1:240207879 [GRCh38]
Chr1:240371179 [GRCh37]
Chr1:1q43		 uncertain significance
NM_020066.5(FMN2):c.4919A>C (p.Glu1640Ala) single nucleotide variant Inborn genetic diseases [RCV002841283] Chr1:240438069 [GRCh38]
Chr1:240601369 [GRCh37]
Chr1:1q43		 uncertain significance
GRCh37/hg19 1q41-44(chr1:223972939-249224684)x3 copy number gain not provided [RCV002475745] Chr1:223972939..249224684 [GRCh37]
Chr1:1q41-44		 pathogenic
NM_020066.5(FMN2):c.2423C>T (p.Ser808Leu) single nucleotide variant Inborn genetic diseases [RCV002685062] Chr1:240207235 [GRCh38]
Chr1:240370535 [GRCh37]
Chr1:1q43		 uncertain significance
GRCh37/hg19 1q43(chr1:240603102-240689939)x1 copy number loss not provided [RCV002475713] Chr1:240603102..240689939 [GRCh37]
Chr1:1q43		 uncertain significance
NM_020066.5(FMN2):c.2801T>C (p.Leu934Pro) single nucleotide variant Inborn genetic diseases [RCV002981659] Chr1:240207613 [GRCh38]
Chr1:240370913 [GRCh37]
Chr1:1q43		 likely benign
NM_020066.5(FMN2):c.5159T>C (p.Met1720Thr) single nucleotide variant Inborn genetic diseases [RCV002781586] Chr1:240474144 [GRCh38]
Chr1:240637444 [GRCh37]
Chr1:1q43		 uncertain significance
NM_020066.5(FMN2):c.2080G>A (p.Glu694Lys) single nucleotide variant Inborn genetic diseases [RCV002924851] Chr1:240206892 [GRCh38]
Chr1:240370192 [GRCh37]
Chr1:1q43		 uncertain significance
NM_020066.5(FMN2):c.1390G>T (p.Ala464Ser) single nucleotide variant Inborn genetic diseases [RCV002823327] Chr1:240093499 [GRCh38]
Chr1:240256799 [GRCh37]
Chr1:1q43		 uncertain significance
NM_020066.5(FMN2):c.2723T>C (p.Leu908Pro) single nucleotide variant Inborn genetic diseases [RCV002868347] Chr1:240207535 [GRCh38]
Chr1:240370835 [GRCh37]
Chr1:1q43		 uncertain significance
NM_020066.5(FMN2):c.4088A>G (p.Lys1363Arg) single nucleotide variant Inborn genetic diseases [RCV002950362] Chr1:240257967 [GRCh38]
Chr1:240421267 [GRCh37]
Chr1:1q43		 uncertain significance
NM_020066.5(FMN2):c.226T>A (p.Ser76Thr) single nucleotide variant Inborn genetic diseases [RCV002978654] Chr1:240092335 [GRCh38]
Chr1:240255635 [GRCh37]
Chr1:1q43		 uncertain significance
NM_020066.5(FMN2):c.3794C>T (p.Pro1265Leu) single nucleotide variant Inborn genetic diseases [RCV002660493]|not provided [RCV003420411] Chr1:240208606 [GRCh38]
Chr1:240371906 [GRCh37]
Chr1:1q43		 benign|likely benign
NM_020066.5(FMN2):c.3742C>A (p.Gln1248Lys) single nucleotide variant Inborn genetic diseases [RCV002799399] Chr1:240208554 [GRCh38]
Chr1:240371854 [GRCh37]
Chr1:1q43		 uncertain significance
NM_020066.5(FMN2):c.2260G>T (p.Val754Leu) single nucleotide variant Inborn genetic diseases [RCV002712374] Chr1:240207072 [GRCh38]
Chr1:240370372 [GRCh37]
Chr1:1q43		 uncertain significance
NM_020066.5(FMN2):c.3676C>A (p.Pro1226Thr) single nucleotide variant Inborn genetic diseases [RCV002854467] Chr1:240208488 [GRCh38]
Chr1:240371788 [GRCh37]
Chr1:1q43		 uncertain significance
NM_020066.5(FMN2):c.3954T>G (p.Ile1318Met) single nucleotide variant Inborn genetic diseases [RCV002713795] Chr1:240211124 [GRCh38]
Chr1:240374424 [GRCh37]
Chr1:1q43		 uncertain significance
NM_020066.5(FMN2):c.1507C>A (p.Leu503Met) single nucleotide variant Inborn genetic diseases [RCV002919526] Chr1:240093616 [GRCh38]
Chr1:240256916 [GRCh37]
Chr1:1q43		 uncertain significance
GRCh37/hg19 1q42.11-43(chr1:224230307-243181599)x3 copy number gain not provided [RCV002509019] Chr1:224230307..243181599 [GRCh37]
Chr1:1q42.11-43		 not provided
NM_020066.5(FMN2):c.2471A>G (p.Gln824Arg) single nucleotide variant Inborn genetic diseases [RCV003003861] Chr1:240207283 [GRCh38]
Chr1:240370583 [GRCh37]
Chr1:1q43		 likely benign
NM_020066.5(FMN2):c.2110G>A (p.Val704Met) single nucleotide variant Inborn genetic diseases [RCV002713208] Chr1:240206922 [GRCh38]
Chr1:240370222 [GRCh37]
Chr1:1q43		 uncertain significance
NM_020066.5(FMN2):c.2415G>C (p.Gln805His) single nucleotide variant Inborn genetic diseases [RCV002664571] Chr1:240207227 [GRCh38]
Chr1:240370527 [GRCh37]
Chr1:1q43		 uncertain significance
NM_020066.5(FMN2):c.361C>A (p.Leu121Ile) single nucleotide variant Inborn genetic diseases [RCV002648484] Chr1:240092470 [GRCh38]
Chr1:240255770 [GRCh37]
Chr1:1q43		 uncertain significance
NM_020066.5(FMN2):c.3461C>T (p.Pro1154Leu) single nucleotide variant Inborn genetic diseases [RCV002898518] Chr1:240208273 [GRCh38]
Chr1:240371573 [GRCh37]
Chr1:1q43		 uncertain significance
NM_020066.5(FMN2):c.4375A>G (p.Thr1459Ala) single nucleotide variant Inborn genetic diseases [RCV002939796] Chr1:240329406 [GRCh38]
Chr1:240492706 [GRCh37]
Chr1:1q43		 uncertain significance
NM_020066.5(FMN2):c.2392C>G (p.Leu798Val) single nucleotide variant Inborn genetic diseases [RCV002678547] Chr1:240207204 [GRCh38]
Chr1:240370504 [GRCh37]
Chr1:1q43		 uncertain significance
NM_020066.5(FMN2):c.1103C>G (p.Pro368Arg) single nucleotide variant Inborn genetic diseases [RCV002723595] Chr1:240093212 [GRCh38]
Chr1:240256512 [GRCh37]
Chr1:1q43		 uncertain significance
NM_020066.5(FMN2):c.1258A>G (p.Lys420Glu) single nucleotide variant Inborn genetic diseases [RCV002722770] Chr1:240093367 [GRCh38]
Chr1:240256667 [GRCh37]
Chr1:1q43		 uncertain significance
NM_020066.5(FMN2):c.2242C>T (p.Pro748Ser) single nucleotide variant Inborn genetic diseases [RCV003279483] Chr1:240207054 [GRCh38]
Chr1:240370354 [GRCh37]
Chr1:1q43		 uncertain significance
NM_020066.5(FMN2):c.1408C>T (p.Arg470Trp) single nucleotide variant FMN2-related disorder [RCV004731517]|Inborn genetic diseases [RCV003206813] Chr1:240093517 [GRCh38]
Chr1:240256817 [GRCh37]
Chr1:1q43		 uncertain significance
NM_020066.5(FMN2):c.1915G>A (p.Glu639Lys) single nucleotide variant Inborn genetic diseases [RCV003179765] Chr1:240178053 [GRCh38]
Chr1:240341353 [GRCh37]
Chr1:1q43		 likely benign
NM_020066.5(FMN2):c.1036G>A (p.Asp346Asn) single nucleotide variant Inborn genetic diseases [RCV003175533] Chr1:240093145 [GRCh38]
Chr1:240256445 [GRCh37]
Chr1:1q43		 uncertain significance
NM_020066.5(FMN2):c.3192T>C (p.Pro1064=) single nucleotide variant FMN2-related disorder [RCV003936728]|not provided [RCV003222660] Chr1:240208004 [GRCh38]
Chr1:240371304 [GRCh37]
Chr1:1q43		 likely benign
NM_020066.5(FMN2):c.2889C>A (p.Gly963=) single nucleotide variant not provided [RCV004597688] Chr1:240207701 [GRCh38]
Chr1:240371001 [GRCh37]
Chr1:1q43		 likely benign
NM_020066.5(FMN2):c.4274A>G (p.Lys1425Arg) single nucleotide variant Inborn genetic diseases [RCV003309614] Chr1:240329134 [GRCh38]
Chr1:240492434 [GRCh37]
Chr1:1q43		 uncertain significance
NM_020066.5(FMN2):c.3210C>T (p.Pro1070=) single nucleotide variant not provided [RCV003326780] Chr1:240208022 [GRCh38]
Chr1:240371322 [GRCh37]
Chr1:1q43		 likely benign
GRCh38/hg38 1q42.13-44(chr1:230178121-243646135)x1 copy number loss Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 [RCV003327728] Chr1:230178121..243646135 [GRCh38]
Chr1:1q42.13-44		 pathogenic
NM_020066.5(FMN2):c.162C>G (p.Gly54=) single nucleotide variant not provided [RCV003326779] Chr1:240092271 [GRCh38]
Chr1:240255571 [GRCh37]
Chr1:1q43		 likely benign
NM_020066.5(FMN2):c.1097G>A (p.Trp366Ter) single nucleotide variant not provided [RCV003329687] Chr1:240093206 [GRCh38]
Chr1:240256506 [GRCh37]
Chr1:1q43		 likely pathogenic
GRCh38/hg38 1q42.3-44(chr1:235215476-247005888)x1 copy number loss Intellectual disability, autosomal dominant 22 [RCV003327725] Chr1:235215476..247005888 [GRCh38]
Chr1:1q42.3-44		 pathogenic
NM_020066.5(FMN2):c.4116G>A (p.Met1372Ile) single nucleotide variant Inborn genetic diseases [RCV003340280] Chr1:240257995 [GRCh38]
Chr1:240421295 [GRCh37]
Chr1:1q43		 uncertain significance
GRCh38/hg38 1q43-44(chr1:239907336-248919110)x1 copy number loss Intellectual disability, autosomal dominant 22 [RCV003333897] Chr1:239907336..248919110 [GRCh38]
Chr1:1q43-44		 pathogenic
NM_020066.5(FMN2):c.3306A>T (p.Leu1102=) single nucleotide variant FMN2-related disorder [RCV003946496]|not provided [RCV003334120] Chr1:240208118 [GRCh38]
Chr1:240371418 [GRCh37]
Chr1:1q43		 likely benign
NM_020066.5(FMN2):c.2967T>G (p.Pro989=) single nucleotide variant not provided [RCV003334119] Chr1:240207779 [GRCh38]
Chr1:240371079 [GRCh37]
Chr1:1q43		 likely benign
NM_020066.5(FMN2):c.4414G>T (p.Glu1472Ter) single nucleotide variant Inborn genetic diseases [RCV003371442] Chr1:240329445 [GRCh38]
Chr1:240492745 [GRCh37]
Chr1:1q43		 pathogenic
NM_020066.5(FMN2):c.4670T>C (p.Phe1557Ser) single nucleotide variant Inborn genetic diseases [RCV003367176] Chr1:240334134 [GRCh38]
Chr1:240497434 [GRCh37]
Chr1:1q43		 uncertain significance
NM_020066.5(FMN2):c.4589A>G (p.Asn1530Ser) single nucleotide variant Inborn genetic diseases [RCV003371443] Chr1:240333891 [GRCh38]
Chr1:240497191 [GRCh37]
Chr1:1q43		 uncertain significance
NM_020066.5(FMN2):c.3270T>A (p.Pro1090=) single nucleotide variant not provided [RCV003456696] Chr1:240208082 [GRCh38]
Chr1:240371382 [GRCh37]
Chr1:1q43		 likely benign
GRCh37/hg19 1q42.13-44(chr1:229373250-249206595)x3 copy number gain not provided [RCV003484052] Chr1:229373250..249206595 [GRCh37]
Chr1:1q42.13-44		 pathogenic
NM_020066.5(FMN2):c.177G>T (p.Gly59=) single nucleotide variant not provided [RCV003414998] Chr1:240092286 [GRCh38]
Chr1:240255586 [GRCh37]
Chr1:1q43		 likely benign
NM_020066.5(FMN2):c.903C>T (p.Val301=) single nucleotide variant FMN2-related disorder [RCV003954108]|not provided [RCV003414999] Chr1:240093012 [GRCh38]
Chr1:240256312 [GRCh37]
Chr1:1q43		 likely benign
NM_020066.5(FMN2):c.924G>C (p.Pro308=) single nucleotide variant not provided [RCV003415000] Chr1:240093033 [GRCh38]
Chr1:240256333 [GRCh37]
Chr1:1q43		 likely benign
NM_020066.5(FMN2):c.2256C>T (p.Gly752=) single nucleotide variant not provided [RCV003415001] Chr1:240207068 [GRCh38]
Chr1:240370368 [GRCh37]
Chr1:1q43		 likely benign
NM_020066.5(FMN2):c.2274T>C (p.Pro758=) single nucleotide variant not provided [RCV003415002] Chr1:240207086 [GRCh38]
Chr1:240370386 [GRCh37]
Chr1:1q43		 likely benign
NM_020066.5(FMN2):c.2673G>A (p.Leu891=) single nucleotide variant not provided [RCV003415003] Chr1:240207485 [GRCh38]
Chr1:240370785 [GRCh37]
Chr1:1q43		 likely benign
NM_020066.5(FMN2):c.2769G>A (p.Pro923=) single nucleotide variant not provided [RCV003415004] Chr1:240207581 [GRCh38]
Chr1:240370881 [GRCh37]
Chr1:1q43		 likely benign
NM_020066.5(FMN2):c.2772G>C (p.Pro924=) single nucleotide variant not provided [RCV003415005] Chr1:240207584 [GRCh38]
Chr1:240370884 [GRCh37]
Chr1:1q43		 likely benign
NM_020066.5(FMN2):c.2778A>T (p.Leu926=) single nucleotide variant not provided [RCV003415006] Chr1:240207590 [GRCh38]
Chr1:240370890 [GRCh37]
Chr1:1q43		 likely benign
NM_020066.5(FMN2):c.2790C>A (p.Gly930=) single nucleotide variant not provided [RCV003415007] Chr1:240207602 [GRCh38]
Chr1:240370902 [GRCh37]
Chr1:1q43		 likely benign
NM_020066.5(FMN2):c.2796C>T (p.Leu932=) single nucleotide variant FMN2-related disorder [RCV003946511]|not provided [RCV003415008] Chr1:240207608 [GRCh38]
Chr1:240370908 [GRCh37]
Chr1:1q43		 likely benign
NM_020066.5(FMN2):c.2802G>T (p.Leu934=) single nucleotide variant FMN2-related disorder [RCV003901030]|not provided [RCV003415009] Chr1:240207614 [GRCh38]
Chr1:240370914 [GRCh37]
Chr1:1q43		 likely benign
NM_020066.5(FMN2):c.2838C>G (p.Pro946=) single nucleotide variant not provided [RCV003415010] Chr1:240207650 [GRCh38]
Chr1:240370950 [GRCh37]
Chr1:1q43		 likely benign
NM_020066.5(FMN2):c.2856A>C (p.Ala952=) single nucleotide variant not provided [RCV003415011] Chr1:240207668 [GRCh38]
Chr1:240370968 [GRCh37]
Chr1:1q43		 likely benign
NM_020066.5(FMN2):c.2874T>A (p.Pro958=) single nucleotide variant FMN2-related disorder [RCV003946512]|not provided [RCV003415012] Chr1:240207686 [GRCh38]
Chr1:240370986 [GRCh37]
Chr1:1q43		 likely benign
NM_020066.5(FMN2):c.2901T>G (p.Pro967=) single nucleotide variant FMN2-related disorder [RCV003954109]|not provided [RCV003415013] Chr1:240207713 [GRCh38]
Chr1:240371013 [GRCh37]
Chr1:1q43		 likely benign
NM_020066.5(FMN2):c.2934A>G (p.Pro978=) single nucleotide variant not provided [RCV003415014] Chr1:240207746 [GRCh38]
Chr1:240371046 [GRCh37]
Chr1:1q43		 likely benign
NM_020066.5(FMN2):c.2937C>G (p.Pro979=) single nucleotide variant FMN2-related disorder [RCV003936762]|not provided [RCV003415015]|not specified [RCV004526256] Chr1:240207749 [GRCh38]
Chr1:240371049 [GRCh37]
Chr1:1q43		 likely benign
NM_020066.5(FMN2):c.2940T>A (p.Pro980=) single nucleotide variant not provided [RCV003415016] Chr1:240207752 [GRCh38]
Chr1:240371052 [GRCh37]
Chr1:1q43		 likely benign
NM_020066.5(FMN2):c.2952G>A (p.Ala984=) single nucleotide variant not provided [RCV003415017] Chr1:240207764 [GRCh38]
Chr1:240371064 [GRCh37]
Chr1:1q43		 likely benign
NM_020066.5(FMN2):c.2954G>C (p.Gly985Ala) single nucleotide variant not provided [RCV003415018] Chr1:240207766 [GRCh38]
Chr1:240371066 [GRCh37]
Chr1:1q43		 uncertain significance
NM_020066.5(FMN2):c.2955C>A (p.Gly985=) single nucleotide variant not provided [RCV003415019] Chr1:240207767 [GRCh38]
Chr1:240371067 [GRCh37]
Chr1:1q43		 likely benign
NM_020066.5(FMN2):c.2961C>T (p.Pro987=) single nucleotide variant not provided [RCV003415020] Chr1:240207773 [GRCh38]
Chr1:240371073 [GRCh37]
Chr1:1q43		 likely benign
NM_020066.5(FMN2):c.2967T>A (p.Pro989=) single nucleotide variant FMN2-related disorder [RCV003906720]|not provided [RCV003415021] Chr1:240207779 [GRCh38]
Chr1:240371079 [GRCh37]
Chr1:1q43		 likely benign
NM_020066.5(FMN2):c.2976T>A (p.Leu992=) single nucleotide variant not provided [RCV003415022] Chr1:240207788 [GRCh38]
Chr1:240371088 [GRCh37]
Chr1:1q43		 likely benign
NM_020066.5(FMN2):c.2982A>G (p.Gly994=) single nucleotide variant not provided [RCV003415023] Chr1:240207794 [GRCh38]
Chr1:240371094 [GRCh37]
Chr1:1q43		 likely benign
NM_020066.5(FMN2):c.3003C>G (p.Pro1001=) single nucleotide variant FMN2-related disorder [RCV003906721]|not provided [RCV003415024] Chr1:240207815 [GRCh38]
Chr1:240371115 [GRCh37]
Chr1:1q43		 likely benign
NM_020066.5(FMN2):c.3015A>G (p.Gly1005=) single nucleotide variant FMN2-related disorder [RCV003966344]|not provided [RCV003415025] Chr1:240207827 [GRCh38]
Chr1:240371127 [GRCh37]
Chr1:1q43		 likely benign
NM_020066.5(FMN2):c.3018G>A (p.Ala1006=) single nucleotide variant not provided [RCV003415026] Chr1:240207830 [GRCh38]
Chr1:240371130 [GRCh37]
Chr1:1q43		 likely benign
NM_020066.5(FMN2):c.3033T>G (p.Pro1011=) single nucleotide variant FMN2-related disorder [RCV003906722]|not provided [RCV003415027] Chr1:240207845 [GRCh38]
Chr1:240371145 [GRCh37]
Chr1:1q43		 likely benign
NM_020066.5(FMN2):c.3036C>G (p.Pro1012=) single nucleotide variant FMN2-related disorder [RCV003954110]|not provided [RCV003415028] Chr1:240207848 [GRCh38]
Chr1:240371148 [GRCh37]
Chr1:1q43		 likely benign
NM_020066.5(FMN2):c.3060T>C (p.Pro1020=) single nucleotide variant FMN2-related disorder [RCV003929019]|not provided [RCV003415029] Chr1:240207872 [GRCh38]
Chr1:240371172 [GRCh37]
Chr1:1q43		 likely benign
NM_020066.5(FMN2):c.3066A>G (p.Pro1022=) single nucleotide variant FMN2-related disorder [RCV003901031]|not provided [RCV003415030] Chr1:240207878 [GRCh38]
Chr1:240371178 [GRCh37]
Chr1:1q43		 likely benign
NM_020066.5(FMN2):c.3072T>A (p.Pro1024=) single nucleotide variant FMN2-related disorder [RCV003954111]|not provided [RCV003415031] Chr1:240207884 [GRCh38]
Chr1:240371184 [GRCh37]
Chr1:1q43		 likely benign
NM_020066.5(FMN2):c.3075A>T (p.Leu1025=) single nucleotide variant not provided [RCV003415032] Chr1:240207887 [GRCh38]
Chr1:240371187 [GRCh37]
Chr1:1q43		 likely benign
NM_020066.5(FMN2):c.3087C>A (p.Gly1029=) single nucleotide variant not provided [RCV003415033] Chr1:240207899 [GRCh38]
Chr1:240371199 [GRCh37]
Chr1:1q43		 likely benign
NM_020066.5(FMN2):c.3099G>A (p.Pro1033=) single nucleotide variant not provided [RCV003415034] Chr1:240207911 [GRCh38]
Chr1:240371211 [GRCh37]
Chr1:1q43		 likely benign
NM_020066.5(FMN2):c.3108T>A (p.Leu1036=) single nucleotide variant not provided [RCV003415035] Chr1:240207920 [GRCh38]
Chr1:240371220 [GRCh37]
Chr1:1q43		 likely benign
NM_020066.5(FMN2):c.3126C>T (p.Pro1042=) single nucleotide variant FMN2-related disorder [RCV003980866]|not provided [RCV003415036] Chr1:240207938 [GRCh38]
Chr1:240371238 [GRCh37]
Chr1:1q43		 likely benign
NM_020066.5(FMN2):c.3129T>A (p.Pro1043=) single nucleotide variant not provided [RCV003415037] Chr1:240207941 [GRCh38]
Chr1:240371241 [GRCh37]
Chr1:1q43		 likely benign
NM_020066.5(FMN2):c.3132G>A (p.Pro1044=) single nucleotide variant not provided [RCV003415038] Chr1:240207944 [GRCh38]
Chr1:240371244 [GRCh37]
Chr1:1q43		 likely benign
NM_020066.5(FMN2):c.3138A>T (p.Pro1046=) single nucleotide variant FMN2-related disorder [RCV003929020]|not provided [RCV003415039] Chr1:240207950 [GRCh38]
Chr1:240371250 [GRCh37]
Chr1:1q43		 likely benign
NM_020066.5(FMN2):c.3159C>T (p.Pro1053=) single nucleotide variant not provided [RCV003415040] Chr1:240207971 [GRCh38]
Chr1:240371271 [GRCh37]
Chr1:1q43		 likely benign
NM_020066.5(FMN2):c.3162T>A (p.Pro1054=) single nucleotide variant not provided [RCV003415041] Chr1:240207974 [GRCh38]
Chr1:240371274 [GRCh37]
Chr1:1q43		 likely benign
NM_020066.5(FMN2):c.3165T>G (p.Pro1055=) single nucleotide variant FMN2-related disorder [RCV003906723]|not provided [RCV003415042] Chr1:240207977 [GRCh38]
Chr1:240371277 [GRCh37]
Chr1:1q43		 likely benign
NM_020066.5(FMN2):c.3168C>G (p.Pro1056=) single nucleotide variant not provided [RCV003415043] Chr1:240207980 [GRCh38]
Chr1:240371280 [GRCh37]
Chr1:1q43		 likely benign
NM_020066.5(FMN2):c.3198A>T (p.Pro1066=) single nucleotide variant not provided [RCV003415044] Chr1:240208010 [GRCh38]
Chr1:240371310 [GRCh37]
Chr1:1q43		 likely benign
NM_020066.5(FMN2):c.3207A>T (p.Leu1069=) single nucleotide variant FMN2-related disorder [RCV003919085]|not provided [RCV003415045] Chr1:240208019 [GRCh38]
Chr1:240371319 [GRCh37]
Chr1:1q43		 likely benign
NM_020066.5(FMN2):c.3231G>A (p.Pro1077=) single nucleotide variant not provided [RCV003415046] Chr1:240208043 [GRCh38]
Chr1:240371343 [GRCh37]
Chr1:1q43		 likely benign
NM_020066.5(FMN2):c.3231G>T (p.Pro1077=) single nucleotide variant FMN2-related disorder [RCV003966345]|not provided [RCV003415047] Chr1:240208043 [GRCh38]
Chr1:240371343 [GRCh37]
Chr1:1q43		 likely benign
NM_020066.5(FMN2):c.3258C>T (p.Pro1086=) single nucleotide variant not provided [RCV003415048] Chr1:240208070 [GRCh38]
Chr1:240371370 [GRCh37]
Chr1:1q43		 likely benign
NM_020066.5(FMN2):c.3264T>G (p.Pro1088=) single nucleotide variant not provided [RCV003415049] Chr1:240208076 [GRCh38]
Chr1:240371376 [GRCh37]
Chr1:1q43		 likely benign
NM_020066.5(FMN2):c.3273A>T (p.Leu1091=) single nucleotide variant not provided [RCV003415050] Chr1:240208085 [GRCh38]
Chr1:240371385 [GRCh37]
Chr1:1q43		 likely benign
NM_020066.5(FMN2):c.3294T>A (p.Pro1098=) single nucleotide variant FMN2-related disorder [RCV003901032]|not provided [RCV003415051] Chr1:240208106 [GRCh38]
Chr1:240371406 [GRCh37]
Chr1:1q43		 likely benign
NM_020066.5(FMN2):c.3297G>A (p.Pro1099=) single nucleotide variant FMN2-related disorder [RCV003919086]|not provided [RCV003415052] Chr1:240208109 [GRCh38]
Chr1:240371409 [GRCh37]
Chr1:1q43		 likely benign
NM_020066.5(FMN2):c.3302C>T (p.Pro1101Leu) single nucleotide variant not provided [RCV003415053] Chr1:240208114 [GRCh38]
Chr1:240371414 [GRCh37]
Chr1:1q43		 benign
NM_020066.5(FMN2):c.3315G>A (p.Val1105=) single nucleotide variant not provided [RCV003415054] Chr1:240208127 [GRCh38]
Chr1:240371427 [GRCh37]
Chr1:1q43		 likely benign
NM_020066.5(FMN2):c.3330G>A (p.Pro1110=) single nucleotide variant not provided [RCV003415055] Chr1:240208142 [GRCh38]
Chr1:240371442 [GRCh37]
Chr1:1q43		 likely benign
NM_020066.5(FMN2):c.3339ACCCGGAGCGGGCATACCCCCTCCTCCCCCTCT[1] (p.1115GAGIPPPPPLP[2]) microsatellite FMN2-related disorder [RCV003929021]|not provided [RCV003415056] Chr1:240208143..240208175 [GRCh38]
Chr1:240371443..240371475 [GRCh37]
Chr1:1q43		 benign|likely benign
NM_020066.5(FMN2):c.3350G>T (p.Gly1117Val) single nucleotide variant not provided [RCV003415057] Chr1:240208162 [GRCh38]
Chr1:240371462 [GRCh37]
Chr1:1q43		 likely benign
NM_020066.5(FMN2):c.3369T>A (p.Pro1123=) single nucleotide variant FMN2-related disorder [RCV003954112]|not provided [RCV003415058] Chr1:240208181 [GRCh38]
Chr1:240371481 [GRCh37]
Chr1:1q43		 likely benign
NM_020066.5(FMN2):c.3372A>T (p.Leu1124=) single nucleotide variant FMN2-related disorder [RCV003919087]|not provided [RCV003415059] Chr1:240208184 [GRCh38]
Chr1:240371484 [GRCh37]
Chr1:1q43		 likely benign
NM_020066.5(FMN2):c.3378A>G (p.Gly1126=) single nucleotide variant not provided [RCV003415060] Chr1:240208190 [GRCh38]
Chr1:240371490 [GRCh37]
Chr1:1q43		 likely benign
NM_020066.5(FMN2):c.3393T>A (p.Pro1131=) single nucleotide variant FMN2-related disorder [RCV003938898]|not provided [RCV003415061] Chr1:240208205 [GRCh38]
Chr1:240371505 [GRCh37]
Chr1:1q43		 likely benign
NM_020066.5(FMN2):c.3396T>G (p.Pro1132=) single nucleotide variant FMN2-related disorder [RCV003966346]|not provided [RCV003415062] Chr1:240208208 [GRCh38]
Chr1:240371508 [GRCh37]
Chr1:1q43		 likely benign
NM_020066.5(FMN2):c.3402T>A (p.Pro1134=) single nucleotide variant not provided [RCV003415063] Chr1:240208214 [GRCh38]
Chr1:240371514 [GRCh37]
Chr1:1q43		 likely benign
NM_020066.5(FMN2):c.3429A>T (p.Pro1143=) single nucleotide variant FMN2-related disorder [RCV003938899]|not provided [RCV003415064] Chr1:240208241 [GRCh38]
Chr1:240371541 [GRCh37]
Chr1:1q43		 likely benign
NM_020066.5(FMN2):c.3442_3507del (p.Arg1148_Pro1169del) deletion Intellectual disability, autosomal recessive 47 [RCV004723310]|not provided [RCV003415065] Chr1:240208242..240208307 [GRCh38]
Chr1:240371542..240371607 [GRCh37]
Chr1:1q43		 likely benign|uncertain significance
NM_020066.5(FMN2):c.3462G>A (p.Pro1154=) single nucleotide variant FMN2-related disorder [RCV003919088]|not provided [RCV003415066] Chr1:240208274 [GRCh38]
Chr1:240371574 [GRCh37]
Chr1:1q43		 likely benign
NM_020066.5(FMN2):c.3462G>T (p.Pro1154=) single nucleotide variant FMN2-related disorder [RCV003938900]|not provided [RCV003415067] Chr1:240208274 [GRCh38]
Chr1:240371574 [GRCh37]
Chr1:1q43		 likely benign
NM_020066.5(FMN2):c.3489C>T (p.Pro1163=) single nucleotide variant not provided [RCV003415068] Chr1:240208301 [GRCh38]
Chr1:240371601 [GRCh37]
Chr1:1q43		 likely benign
NM_020066.5(FMN2):c.3495T>A (p.Pro1165=) single nucleotide variant not provided [RCV003415069] Chr1:240208307 [GRCh38]
Chr1:240371607 [GRCh37]
Chr1:1q43		 likely benign
NM_020066.5(FMN2):c.3495T>G (p.Pro1165=) single nucleotide variant not provided [RCV003415070] Chr1:240208307 [GRCh38]
Chr1:240371607 [GRCh37]
Chr1:1q43		 likely benign
NM_020066.5(FMN2):c.3504A>T (p.Leu1168=) single nucleotide variant FMN2-related disorder [RCV003901033]|not provided [RCV003415071] Chr1:240208316 [GRCh38]
Chr1:240371616 [GRCh37]
Chr1:1q43		 likely benign
NM_020066.5(FMN2):c.3512C>T (p.Ala1171Val) single nucleotide variant not provided [RCV003415072] Chr1:240208324 [GRCh38]
Chr1:240371624 [GRCh37]
Chr1:1q43		 uncertain significance
NM_020066.5(FMN2):c.3516C>A (p.Gly1172=) single nucleotide variant not provided [RCV003415073] Chr1:240208328 [GRCh38]
Chr1:240371628 [GRCh37]
Chr1:1q43		 likely benign
NM_020066.5(FMN2):c.3522C>T (p.Pro1174=) single nucleotide variant FMN2-related disorder [RCV003966347]|not provided [RCV003415074] Chr1:240208334 [GRCh38]
Chr1:240371634 [GRCh37]
Chr1:1q43		 likely benign
NM_020066.5(FMN2):c.3549A>C (p.Gly1183=) single nucleotide variant FMN2-related disorder [RCV003946513]|not provided [RCV003415075] Chr1:240208361 [GRCh38]
Chr1:240371661 [GRCh37]
Chr1:1q43		 likely benign
NM_020066.5(FMN2):c.3573T>C (p.Pro1191=) single nucleotide variant not provided [RCV003415076] Chr1:240208385 [GRCh38]
Chr1:240371685 [GRCh37]
Chr1:1q43		 likely benign
NM_020066.5(FMN2):c.4800C>A (p.Val1600=) single nucleotide variant not provided [RCV003415077] Chr1:240355850 [GRCh38]
Chr1:240519150 [GRCh37]
Chr1:1q43		 likely benign
NM_020066.5(FMN2):c.4875G>A (p.Glu1625=) single nucleotide variant not provided [RCV003415078] Chr1:240392527 [GRCh38]
Chr1:240555827 [GRCh37]
Chr1:1q43		 likely benign
NM_020066.5(FMN2):c.874C>T (p.Gln292Ter) single nucleotide variant Intellectual disability, autosomal recessive 47 [RCV003493230] Chr1:240092983 [GRCh38]
Chr1:240256283 [GRCh37]
Chr1:1q43		 likely pathogenic
NM_020066.5(FMN2):c.3149C>T (p.Ala1050Val) single nucleotide variant not specified [RCV003489788] Chr1:240207961 [GRCh38]
Chr1:240371261 [GRCh37]
Chr1:1q43		 uncertain significance
NM_020066.5(FMN2):c.3230C>T (p.Pro1077Leu) single nucleotide variant Intellectual disability, autosomal recessive 47 [RCV003493005] Chr1:240208042 [GRCh38]
Chr1:240371342 [GRCh37]
Chr1:1q43		 uncertain significance
NM_020066.5(FMN2):c.2841T>A (p.Pro947=) single nucleotide variant not provided [RCV004585394] Chr1:240207653 [GRCh38]
Chr1:240370953 [GRCh37]
Chr1:1q43		 likely benign
GRCh37/hg19 1q43(chr1:239786185-242208644)x1 copy number loss not specified [RCV003986406] Chr1:239786185..242208644 [GRCh37]
Chr1:1q43		 pathogenic
GRCh37/hg19 1q43(chr1:240332313-240352790)x1 copy number loss not specified [RCV003986773] Chr1:240332313..240352790 [GRCh37]
Chr1:1q43		 uncertain significance
GRCh37/hg19 1q43(chr1:240407420-240835685)x3 copy number gain not specified [RCV003987050] Chr1:240407420..240835685 [GRCh37]
Chr1:1q43		 uncertain significance
GRCh37/hg19 1q43-44(chr1:238681812-249224684)x3 copy number gain not specified [RCV003986862] Chr1:238681812..249224684 [GRCh37]
Chr1:1q43-44		 likely pathogenic
GRCh37/hg19 1q42.2-43(chr1:233813555-240578304)x1 copy number loss not specified [RCV003987172] Chr1:233813555..240578304 [GRCh37]
Chr1:1q42.2-43		 pathogenic
NM_020066.5(FMN2):c.3468A>T (p.Pro1156=) single nucleotide variant FMN2-related disorder [RCV003909216]|not provided [RCV003886214] Chr1:240208280 [GRCh38]
Chr1:240371580 [GRCh37]
Chr1:1q43		 likely benign
GRCh37/hg19 1q43(chr1:237966553-240835685)x1 copy number loss not specified [RCV003986939] Chr1:237966553..240835685 [GRCh37]
Chr1:1q43		 pathogenic
NM_020066.5(FMN2):c.2829_2861del (p.Ala952_Ala962del) deletion FMN2-related disorder [RCV003911669] Chr1:240207635..240207667 [GRCh38]
Chr1:240370935..240370967 [GRCh37]
Chr1:1q43		 likely benign
NM_020066.5(FMN2):c.168C>A (p.Gly56=) single nucleotide variant FMN2-related disorder [RCV003893999] Chr1:240092277 [GRCh38]
Chr1:240255577 [GRCh37]
Chr1:1q43		 likely benign
NM_020066.5(FMN2):c.1284G>T (p.Ser428=) single nucleotide variant not specified [RCV003988553] Chr1:240093393 [GRCh38]
Chr1:240256693 [GRCh37]
Chr1:1q43		 likely benign
NM_020066.5(FMN2):c.3619C>G (p.Pro1207Ala) single nucleotide variant FMN2-related disorder [RCV003943836] Chr1:240208431 [GRCh38]
Chr1:240371731 [GRCh37]
Chr1:1q43		 likely benign
NM_020066.5(FMN2):c.2842_2873del (p.Leu948fs) deletion Intellectual disability, autosomal recessive 47 [RCV003988904] Chr1:240207654..240207685 [GRCh38]
Chr1:240370954..240370985 [GRCh37]
Chr1:1q43		 uncertain significance
NM_020066.5(FMN2):c.2112G>C (p.Val704=) single nucleotide variant not provided [RCV003884883] Chr1:240206924 [GRCh38]
Chr1:240370224 [GRCh37]
Chr1:1q43		 likely benign
NM_020066.5(FMN2):c.3144C>T (p.Pro1048=) single nucleotide variant FMN2-related disorder [RCV003896632] Chr1:240207956 [GRCh38]
Chr1:240371256 [GRCh37]
Chr1:1q43		 likely benign
NM_020066.5(FMN2):c.2742T>A (p.Pro914=) single nucleotide variant not provided [RCV003993010] Chr1:240207554 [GRCh38]
Chr1:240370854 [GRCh37]
Chr1:1q43		 likely benign
NM_020066.5(FMN2):c.3888T>C (p.Leu1296=) single nucleotide variant FMN2-related disorder [RCV003954545] Chr1:240208700 [GRCh38]
Chr1:240372000 [GRCh37]
Chr1:1q43		 benign
NM_020066.5(FMN2):c.2844A>T (p.Leu948=) single nucleotide variant FMN2-related disorder [RCV003924452] Chr1:240207656 [GRCh38]
Chr1:240370956 [GRCh37]
Chr1:1q43		 benign
NM_020066.5(FMN2):c.3180A>G (p.Gly1060=) single nucleotide variant not provided [RCV004546124] Chr1:240207992 [GRCh38]
Chr1:240371292 [GRCh37]
Chr1:1q43		 likely benign
NM_020066.5(FMN2):c.1591G>T (p.Asp531Tyr) single nucleotide variant Intellectual disability, autosomal recessive 47 [RCV003988647] Chr1:240093700 [GRCh38]
Chr1:240257000 [GRCh37]
Chr1:1q43		 not provided
NM_020066.5(FMN2):c.2907T>A (p.Pro969=) single nucleotide variant FMN2-related disorder [RCV003982435] Chr1:240207719 [GRCh38]
Chr1:240371019 [GRCh37]
Chr1:1q43		 likely benign
NM_020066.5(FMN2):c.3357C>T (p.Pro1119=) single nucleotide variant FMN2-related disorder [RCV003956757] Chr1:240208169 [GRCh38]
Chr1:240371469 [GRCh37]
Chr1:1q43		 likely benign
NM_020066.5(FMN2):c.3564C>T (p.Pro1188=) single nucleotide variant FMN2-related disorder [RCV003956709] Chr1:240208376 [GRCh38]
Chr1:240371676 [GRCh37]
Chr1:1q43		 benign
NM_020066.5(FMN2):c.3471T>A (p.Leu1157=) single nucleotide variant FMN2-related disorder [RCV003921445] Chr1:240208283 [GRCh38]
Chr1:240371583 [GRCh37]
Chr1:1q43		 likely benign
NM_020066.5(FMN2):c.2233C>T (p.Gln745Ter) single nucleotide variant Intellectual disability, autosomal recessive 47 [RCV003989163] Chr1:240207045 [GRCh38]
Chr1:240370345 [GRCh37]
Chr1:1q43		 pathogenic
NM_020066.5(FMN2):c.3000G>T (p.Pro1000=) single nucleotide variant FMN2-related disorder [RCV003979162] Chr1:240207812 [GRCh38]
Chr1:240371112 [GRCh37]
Chr1:1q43		 benign
NM_020066.5(FMN2):c.2829T>C (p.Pro943=) single nucleotide variant FMN2-related disorder [RCV003979291] Chr1:240207641 [GRCh38]
Chr1:240370941 [GRCh37]
Chr1:1q43		 benign
NM_020066.5(FMN2):c.2862C>T (p.Pro954=) single nucleotide variant FMN2-related disorder [RCV003926778] Chr1:240207674 [GRCh38]
Chr1:240370974 [GRCh37]
Chr1:1q43		 likely benign
NM_020066.5(FMN2):c.2928T>A (p.Pro976=) single nucleotide variant FMN2-related disorder [RCV003902138] Chr1:240207740 [GRCh38]
Chr1:240371040 [GRCh37]
Chr1:1q43		 likely benign
NM_020066.5(FMN2):c.2304A>G (p.Pro768=) single nucleotide variant FMN2-related disorder [RCV003902327] Chr1:240207116 [GRCh38]
Chr1:240370416 [GRCh37]
Chr1:1q43		 likely benign
NM_020066.5(FMN2):c.2127A>G (p.Gln709=) single nucleotide variant FMN2-related disorder [RCV003896483] Chr1:240206939 [GRCh38]
Chr1:240370239 [GRCh37]
Chr1:1q43		 likely benign
NM_020066.5(FMN2):c.153G>A (p.Gly51=) single nucleotide variant FMN2-related disorder [RCV003981620] Chr1:240092262 [GRCh38]
Chr1:240255562 [GRCh37]
Chr1:1q43		 likely benign
NM_020066.5(FMN2):c.2811A>T (p.Leu937=) single nucleotide variant not provided [RCV003886230] Chr1:240207623 [GRCh38]
Chr1:240370923 [GRCh37]
Chr1:1q43		 likely benign
NM_020066.5(FMN2):c.3029C>T (p.Pro1010Leu) single nucleotide variant FMN2-related disorder [RCV003964596] Chr1:240207841 [GRCh38]
Chr1:240371141 [GRCh37]
Chr1:1q43		 likely benign
NM_020066.5(FMN2):c.2916A>G (p.Gly972=) single nucleotide variant FMN2-related disorder [RCV003979063] Chr1:240207728 [GRCh38]
Chr1:240371028 [GRCh37]
Chr1:1q43		 benign
NM_020066.5(FMN2):c.2106A>G (p.Thr702=) single nucleotide variant FMN2-related disorder [RCV003921729] Chr1:240206918 [GRCh38]
Chr1:240370218 [GRCh37]
Chr1:1q43		 likely benign
NM_020066.5(FMN2):c.2730CCCTCC[3] (p.Pro914_Leu915insProPro) microsatellite FMN2-related disorder [RCV003941860] Chr1:240207539..240207540 [GRCh38]
Chr1:240370839..240370840 [GRCh37]
Chr1:1q43		 likely benign
NM_020066.5(FMN2):c.3099G>T (p.Pro1033=) single nucleotide variant FMN2-related disorder [RCV003931803] Chr1:240207911 [GRCh38]
Chr1:240371211 [GRCh37]
Chr1:1q43		 likely benign
NM_020066.5(FMN2):c.3234C>T (p.Pro1078=) single nucleotide variant FMN2-related disorder [RCV003949326] Chr1:240208046 [GRCh38]
Chr1:240371346 [GRCh37]
Chr1:1q43		 likely benign
NM_020066.5(FMN2):c.2487G>C (p.Pro829=) single nucleotide variant FMN2-related disorder [RCV003921425] Chr1:240207299 [GRCh38]
Chr1:240370599 [GRCh37]
Chr1:1q43		 likely benign
NM_020066.5(FMN2):c.2997T>A (p.Pro999=) single nucleotide variant FMN2-related disorder [RCV003921431] Chr1:240207809 [GRCh38]
Chr1:240371109 [GRCh37]
Chr1:1q43		 likely benign
NM_020066.5(FMN2):c.3423T>C (p.Pro1141=) single nucleotide variant FMN2-related disorder [RCV003929581]|not provided [RCV004546829] Chr1:240208235 [GRCh38]
Chr1:240371535 [GRCh37]
Chr1:1q43		 likely benign
NM_020066.5(FMN2):c.3480G>C (p.Ala1160=) single nucleotide variant FMN2-related disorder [RCV003896754] Chr1:240208292 [GRCh38]
Chr1:240371592 [GRCh37]
Chr1:1q43		 likely benign
NM_020066.5(FMN2):c.2868G>T (p.Pro956=) single nucleotide variant FMN2-related disorder [RCV003931924] Chr1:240207680 [GRCh38]
Chr1:240370980 [GRCh37]
Chr1:1q43		 benign
NM_020066.5(FMN2):c.2850A>G (p.Gly950=) single nucleotide variant FMN2-related disorder [RCV003931989] Chr1:240207662 [GRCh38]
Chr1:240370962 [GRCh37]
Chr1:1q43		 benign
NM_020066.5(FMN2):c.2064C>T (p.Thr688=) single nucleotide variant FMN2-related disorder [RCV003913865] Chr1:240206876 [GRCh38]
Chr1:240370176 [GRCh37]
Chr1:1q43		 likely benign
NM_020066.5(FMN2):c.3843G>A (p.Gly1281=) single nucleotide variant FMN2-related disorder [RCV003896901] Chr1:240208655 [GRCh38]
Chr1:240371955 [GRCh37]
Chr1:1q43		 likely benign
NM_020066.5(FMN2):c.2857del (p.Ile953fs) deletion FMN2-related disorder [RCV003932072] Chr1:240207668 [GRCh38]
Chr1:240370968 [GRCh37]
Chr1:1q43		 likely benign
NM_020066.5(FMN2):c.3012C>A (p.Pro1004=) single nucleotide variant not provided [RCV003885165] Chr1:240207824 [GRCh38]
Chr1:240371124 [GRCh37]
Chr1:1q43		 likely benign
NM_020066.5(FMN2):c.3907C>T (p.Leu1303=) single nucleotide variant FMN2-related disorder [RCV003901697] Chr1:240208719 [GRCh38]
Chr1:240372019 [GRCh37]
Chr1:1q43		 likely benign
NM_020066.5(FMN2):c.2883G>A (p.Gly961=) single nucleotide variant FMN2-related disorder [RCV003929715] Chr1:240207695 [GRCh38]
Chr1:240370995 [GRCh37]
Chr1:1q43		 likely benign
NM_020066.5(FMN2):c.3204T>A (p.Pro1068=) single nucleotide variant FMN2-related disorder [RCV003897049]|not provided [RCV004573416] Chr1:240208016 [GRCh38]
Chr1:240371316 [GRCh37]
Chr1:1q43		 likely benign
NM_020066.5(FMN2):c.3240T>A (p.Leu1080=) single nucleotide variant FMN2-related disorder [RCV003897036]|not provided [RCV004573415] Chr1:240208052 [GRCh38]
Chr1:240371352 [GRCh37]
Chr1:1q43		 likely benign
NM_020066.5(FMN2):c.2822G>C (p.Gly941Ala) single nucleotide variant FMN2-related disorder [RCV003932216] Chr1:240207634 [GRCh38]
Chr1:240370934 [GRCh37]
Chr1:1q43		 benign
NM_020066.5(FMN2):c.3291C>T (p.Pro1097=) single nucleotide variant FMN2-related disorder [RCV003926873] Chr1:240208103 [GRCh38]
Chr1:240371403 [GRCh37]
Chr1:1q43		 likely benign
NM_020066.5(FMN2):c.2442A>G (p.Pro814=) single nucleotide variant FMN2-related disorder [RCV003904312] Chr1:240207254 [GRCh38]
Chr1:240370554 [GRCh37]
Chr1:1q43		 likely benign
NM_020066.5(FMN2):c.2853G>A (p.Ala951=) single nucleotide variant FMN2-related disorder [RCV003923844] Chr1:240207665 [GRCh38]
Chr1:240370965 [GRCh37]
Chr1:1q43		 likely benign
NM_020066.5(FMN2):c.3540T>C (p.Pro1180=) single nucleotide variant FMN2-related disorder [RCV003923892] Chr1:240208352 [GRCh38]
Chr1:240371652 [GRCh37]
Chr1:1q43		 likely benign
NM_020066.5(FMN2):c.3363T>G (p.Pro1121=) single nucleotide variant FMN2-related disorder [RCV003968929] Chr1:240208175 [GRCh38]
Chr1:240371475 [GRCh37]
Chr1:1q43		 likely benign
NM_020066.5(FMN2):c.2877T>A (p.Leu959=) single nucleotide variant FMN2-related disorder [RCV003922312] Chr1:240207689 [GRCh38]
Chr1:240370989 [GRCh37]
Chr1:1q43		 likely benign
NM_020066.5(FMN2):c.3456C>T (p.Pro1152=) single nucleotide variant FMN2-related disorder [RCV003962256] Chr1:240208268 [GRCh38]
Chr1:240371568 [GRCh37]
Chr1:1q43		 likely benign
NM_020066.5(FMN2):c.3291C>G (p.Pro1097=) single nucleotide variant FMN2-related disorder [RCV003927057] Chr1:240208103 [GRCh38]
Chr1:240371403 [GRCh37]
Chr1:1q43		 likely benign
NM_020066.5(FMN2):c.2868G>A (p.Pro956=) single nucleotide variant FMN2-related disorder [RCV003927038] Chr1:240207680 [GRCh38]
Chr1:240370980 [GRCh37]
Chr1:1q43		 likely benign
NM_020066.5(FMN2):c.1987-9G>A single nucleotide variant FMN2-related disorder [RCV003959586] Chr1:240206790 [GRCh38]
Chr1:240370090 [GRCh37]
Chr1:1q43		 likely benign
NM_020066.5(FMN2):c.3111C>T (p.Pro1037=) single nucleotide variant FMN2-related disorder [RCV003959598] Chr1:240207923 [GRCh38]
Chr1:240371223 [GRCh37]
Chr1:1q43		 likely benign
NM_020066.5(FMN2):c.3042T>A (p.Leu1014=) single nucleotide variant FMN2-related disorder [RCV003933983] Chr1:240207854 [GRCh38]
Chr1:240371154 [GRCh37]
Chr1:1q43		 likely benign
NM_020066.5(FMN2):c.3552A>T (p.Ile1184=) single nucleotide variant FMN2-related disorder [RCV003951863] Chr1:240208364 [GRCh38]
Chr1:240371664 [GRCh37]
Chr1:1q43		 likely benign
NM_020066.5(FMN2):c.2394C>T (p.Leu798=) single nucleotide variant FMN2-related disorder [RCV003927370] Chr1:240207206 [GRCh38]
Chr1:240370506 [GRCh37]
Chr1:1q43		 likely benign
NM_020066.5(FMN2):c.4401T>A (p.Ile1467=) single nucleotide variant FMN2-related disorder [RCV003959058] Chr1:240329432 [GRCh38]
Chr1:240492732 [GRCh37]
Chr1:1q43		 likely benign
NM_020066.5(FMN2):c.3314T>C (p.Val1105Ala) single nucleotide variant FMN2-related disorder [RCV003924385] Chr1:240208126 [GRCh38]
Chr1:240371426 [GRCh37]
Chr1:1q43		 benign
NM_020066.5(FMN2):c.3066A>T (p.Pro1022=) single nucleotide variant FMN2-related disorder [RCV003929680] Chr1:240207878 [GRCh38]
Chr1:240371178 [GRCh37]
Chr1:1q43		 likely benign
NM_020066.5(FMN2):c.2852_2853insA (p.Ala952fs) insertion FMN2-related disorder [RCV003917398] Chr1:240207664..240207665 [GRCh38]
Chr1:240370964..240370965 [GRCh37]
Chr1:1q43		 likely benign
NM_020066.5(FMN2):c.3702G>A (p.Pro1234=) single nucleotide variant FMN2-related disorder [RCV003897132] Chr1:240208514 [GRCh38]
Chr1:240371814 [GRCh37]
Chr1:1q43		 likely benign
NM_020066.5(FMN2):c.2967T>C (p.Pro989=) single nucleotide variant not provided [RCV003886023] Chr1:240207779 [GRCh38]
Chr1:240371079 [GRCh37]
Chr1:1q43		 likely benign
NM_020066.5(FMN2):c.3282G>A (p.Ala1094=) single nucleotide variant not provided [RCV003886236] Chr1:240208094 [GRCh38]
Chr1:240371394 [GRCh37]
Chr1:1q43		 likely benign
NM_020066.5(FMN2):c.3048A>G (p.Gly1016=) single nucleotide variant FMN2-related disorder [RCV003904740] Chr1:240207860 [GRCh38]
Chr1:240371160 [GRCh37]
Chr1:1q43		 likely benign
NM_020066.5(FMN2):c.3021C>A (p.Gly1007=) single nucleotide variant FMN2-related disorder [RCV003913831] Chr1:240207833 [GRCh38]
Chr1:240371133 [GRCh37]
Chr1:1q43		 likely benign
NM_020066.5(FMN2):c.2871C>T (p.Pro957=) single nucleotide variant FMN2-related disorder [RCV003913937] Chr1:240207683 [GRCh38]
Chr1:240370983 [GRCh37]
Chr1:1q43		 likely benign
NM_020066.5(FMN2):c.4450G>T (p.Gly1484Cys) single nucleotide variant FMN2-related disorder [RCV003981726] Chr1:240330615 [GRCh38]
Chr1:240493915 [GRCh37]
Chr1:1q43		 likely benign
NM_020066.5(FMN2):c.2919A>G (p.Ala973=) single nucleotide variant FMN2-related disorder [RCV003914264] Chr1:240207731 [GRCh38]
Chr1:240371031 [GRCh37]
Chr1:1q43		 benign
NM_020066.5(FMN2):c.2840C>G (p.Pro947Arg) single nucleotide variant not provided [RCV003884890] Chr1:240207652 [GRCh38]
Chr1:240370952 [GRCh37]
Chr1:1q43		 uncertain significance
NM_020066.5(FMN2):c.3267C>G (p.Pro1089=) single nucleotide variant not provided [RCV003885210] Chr1:240208079 [GRCh38]
Chr1:240371379 [GRCh37]
Chr1:1q43		 likely benign
NM_020066.5(FMN2):c.2736C>T (p.Pro912=) single nucleotide variant FMN2-related disorder [RCV003907228] Chr1:240207548 [GRCh38]
Chr1:240370848 [GRCh37]
Chr1:1q43		 likely benign
NM_020066.5(FMN2):c.729C>T (p.Pro243=) single nucleotide variant FMN2-related disorder [RCV003899799] Chr1:240092838 [GRCh38]
Chr1:240256138 [GRCh37]
Chr1:1q43		 likely benign
NM_020066.5(FMN2):c.3120C>A (p.Gly1040=) single nucleotide variant FMN2-related disorder [RCV003942285] Chr1:240207932 [GRCh38]
Chr1:240371232 [GRCh37]
Chr1:1q43		 likely benign
NM_020066.5(FMN2):c.1485G>T (p.Arg495=) single nucleotide variant not provided [RCV003884041] Chr1:240093594 [GRCh38]
Chr1:240256894 [GRCh37]
Chr1:1q43		 likely benign
NM_020066.5(FMN2):c.3360T>A (p.Pro1120=) single nucleotide variant FMN2-related disorder [RCV003949632] Chr1:240208172 [GRCh38]
Chr1:240371472 [GRCh37]
Chr1:1q43		 likely benign
NM_020066.5(FMN2):c.3528G>A (p.Pro1176=) single nucleotide variant FMN2-related disorder [RCV003921632] Chr1:240208340 [GRCh38]
Chr1:240371640 [GRCh37]
Chr1:1q43		 likely benign
NM_020066.5(FMN2):c.3507C>T (p.Pro1169=) single nucleotide variant FMN2-related disorder [RCV003921690] Chr1:240208319 [GRCh38]
Chr1:240371619 [GRCh37]
Chr1:1q43		 likely benign
NM_020066.5(FMN2):c.2229G>A (p.Ser743=) single nucleotide variant FMN2-related disorder [RCV003902135] Chr1:240207041 [GRCh38]
Chr1:240370341 [GRCh37]
Chr1:1q43		 likely benign
NM_020066.5(FMN2):c.2864C>T (p.Pro955Leu) single nucleotide variant not provided [RCV003885677] Chr1:240207676 [GRCh38]
Chr1:240370976 [GRCh37]
Chr1:1q43		 benign
NM_020066.5(FMN2):c.2801_2833del (p.Leu934_Pro944del) deletion FMN2-related disorder [RCV003911432] Chr1:240207609..240207641 [GRCh38]
Chr1:240370909..240370941 [GRCh37]
Chr1:1q43		 likely benign
NM_020066.5(FMN2):c.1174C>T (p.Pro392Ser) single nucleotide variant Inborn genetic diseases [RCV004389606] Chr1:240093283 [GRCh38]
Chr1:240256583 [GRCh37]
Chr1:1q43		 uncertain significance
NM_020066.5(FMN2):c.3683C>T (p.Pro1228Leu) single nucleotide variant Inborn genetic diseases [RCV004389622] Chr1:240208495 [GRCh38]
Chr1:240371795 [GRCh37]
Chr1:1q43		 uncertain significance
NM_020066.5(FMN2):c.4000A>G (p.Lys1334Glu) single nucleotide variant Inborn genetic diseases [RCV004389624] Chr1:240211170 [GRCh38]
Chr1:240374470 [GRCh37]
Chr1:1q43		 uncertain significance
NM_020066.5(FMN2):c.1220_1222dup (p.Cys407_Phe408insCys) duplication Inborn genetic diseases [RCV004389607] Chr1:240093327..240093328 [GRCh38]
Chr1:240256627..240256628 [GRCh37]
Chr1:1q43		 uncertain significance
NM_020066.5(FMN2):c.1523C>T (p.Ala508Val) single nucleotide variant Inborn genetic diseases [RCV004389608]|not provided [RCV004775551] Chr1:240093632 [GRCh38]
Chr1:240256932 [GRCh37]
Chr1:1q43		 uncertain significance
NM_020066.5(FMN2):c.2099T>C (p.Leu700Pro) single nucleotide variant Inborn genetic diseases [RCV004389610] Chr1:240206911 [GRCh38]
Chr1:240370211 [GRCh37]
Chr1:1q43		 uncertain significance
NM_020066.5(FMN2):c.2625G>A (p.Met875Ile) single nucleotide variant Inborn genetic diseases [RCV004389617] Chr1:240207437 [GRCh38]
Chr1:240370737 [GRCh37]
Chr1:1q43		 uncertain significance
NM_020066.5(FMN2):c.3671C>A (p.Pro1224Gln) single nucleotide variant Inborn genetic diseases [RCV004389621] Chr1:240208483 [GRCh38]
Chr1:240371783 [GRCh37]
Chr1:1q43		 uncertain significance
NM_020066.5(FMN2):c.1825C>T (p.His609Tyr) single nucleotide variant Inborn genetic diseases [RCV004389609] Chr1:240177963 [GRCh38]
Chr1:240341263 [GRCh37]
Chr1:1q43		 uncertain significance
NM_020066.5(FMN2):c.2261T>A (p.Val754Glu) single nucleotide variant Inborn genetic diseases [RCV004389612] Chr1:240207073 [GRCh38]
Chr1:240370373 [GRCh37]
Chr1:1q43		 uncertain significance
NM_020066.5(FMN2):c.2554A>G (p.Ser852Gly) single nucleotide variant Inborn genetic diseases [RCV004389616] Chr1:240207366 [GRCh38]
Chr1:240370666 [GRCh37]
Chr1:1q43		 uncertain significance
NM_020066.5(FMN2):c.292C>G (p.Leu98Val) single nucleotide variant Inborn genetic diseases [RCV004389619] Chr1:240092401 [GRCh38]
Chr1:240255701 [GRCh37]
Chr1:1q43		 uncertain significance
NM_020066.5(FMN2):c.862C>T (p.Arg288Trp) single nucleotide variant Inborn genetic diseases [RCV004389631] Chr1:240092971 [GRCh38]
Chr1:240256271 [GRCh37]
Chr1:1q43		 uncertain significance
NM_020066.5(FMN2):c.877C>T (p.Pro293Ser) single nucleotide variant Inborn genetic diseases [RCV004389632] Chr1:240092986 [GRCh38]
Chr1:240256286 [GRCh37]
Chr1:1q43		 uncertain significance
NM_020066.5(FMN2):c.2257G>T (p.Gly753Trp) single nucleotide variant Inborn genetic diseases [RCV004389611] Chr1:240207069 [GRCh38]
Chr1:240370369 [GRCh37]
Chr1:1q43		 uncertain significance
NM_020066.5(FMN2):c.2307C>G (p.Cys769Trp) single nucleotide variant Inborn genetic diseases [RCV004389613] Chr1:240207119 [GRCh38]
Chr1:240370419 [GRCh37]
Chr1:1q43		 uncertain significance
NM_020066.5(FMN2):c.4063C>G (p.Gln1355Glu) single nucleotide variant Inborn genetic diseases [RCV004389625] Chr1:240211233 [GRCh38]
Chr1:240374533 [GRCh37]
Chr1:1q43		 uncertain significance
NM_020066.5(FMN2):c.5047C>A (p.Leu1683Ile) single nucleotide variant Inborn genetic diseases [RCV004389627] Chr1:240438197 [GRCh38]
Chr1:240601497 [GRCh37]
Chr1:1q43		 likely benign
NM_020066.5(FMN2):c.5074G>A (p.Glu1692Lys) single nucleotide variant Inborn genetic diseases [RCV004389628] Chr1:240472385 [GRCh38]
Chr1:240635685 [GRCh37]
Chr1:1q43		 uncertain significance
NM_020066.5(FMN2):c.910G>A (p.Ala304Thr) single nucleotide variant not provided [RCV004592428] Chr1:240093019 [GRCh38]
Chr1:240256319 [GRCh37]
Chr1:1q43		 uncertain significance
NM_020066.5(FMN2):c.3351C>A (p.Gly1117=) single nucleotide variant not provided [RCV004546171] Chr1:240208163 [GRCh38]
Chr1:240371463 [GRCh37]
Chr1:1q43		 likely benign
NM_020066.5(FMN2):c.2863C>G (p.Pro955Ala) single nucleotide variant Inborn genetic diseases [RCV004389618] Chr1:240207675 [GRCh38]
Chr1:240370975 [GRCh37]
Chr1:1q43		 likely benign
NM_020066.5(FMN2):c.3659C>G (p.Ala1220Gly) single nucleotide variant Inborn genetic diseases [RCV004389620] Chr1:240208471 [GRCh38]
Chr1:240371771 [GRCh37]
Chr1:1q43		 uncertain significance
NM_020066.5(FMN2):c.604G>A (p.Ala202Thr) single nucleotide variant Inborn genetic diseases [RCV004389629] Chr1:240092713 [GRCh38]
Chr1:240256013 [GRCh37]
Chr1:1q43		 uncertain significance
NM_020066.5(FMN2):c.92A>G (p.Asp31Gly) single nucleotide variant Inborn genetic diseases [RCV004389633] Chr1:240092201 [GRCh38]
Chr1:240255501 [GRCh37]
Chr1:1q43		 uncertain significance
NM_020066.5(FMN2):c.2311C>T (p.Pro771Ser) single nucleotide variant Inborn genetic diseases [RCV004389614] Chr1:240207123 [GRCh38]
Chr1:240370423 [GRCh37]
Chr1:1q43		 uncertain significance
NM_020066.5(FMN2):c.2522A>G (p.His841Arg) single nucleotide variant Inborn genetic diseases [RCV004389615] Chr1:240207334 [GRCh38]
Chr1:240370634 [GRCh37]
Chr1:1q43		 uncertain significance
NM_020066.5(FMN2):c.3746T>C (p.Val1249Ala) single nucleotide variant Inborn genetic diseases [RCV004389623] Chr1:240208558 [GRCh38]
Chr1:240371858 [GRCh37]
Chr1:1q43		 likely benign
NM_020066.5(FMN2):c.760C>A (p.Leu254Met) single nucleotide variant Inborn genetic diseases [RCV004389630] Chr1:240092869 [GRCh38]
Chr1:240256169 [GRCh37]
Chr1:1q43		 uncertain significance
NM_020066.5(FMN2):c.2886A>T (p.Ala962=) single nucleotide variant not provided [RCV004575136] Chr1:240207698 [GRCh38]
Chr1:240370998 [GRCh37]
Chr1:1q43		 likely benign
NM_020066.5(FMN2):c.3414G>A (p.Ala1138=) single nucleotide variant not provided [RCV004575181] Chr1:240208226 [GRCh38]
Chr1:240371526 [GRCh37]
Chr1:1q43		 likely benign
NM_020066.5(FMN2):c.2593G>A (p.Glu865Lys) single nucleotide variant Inborn genetic diseases [RCV004625927] Chr1:240207405 [GRCh38]
Chr1:240370705 [GRCh37]
Chr1:1q43		 uncertain significance
NM_020066.5(FMN2):c.1585G>A (p.Ala529Thr) single nucleotide variant Inborn genetic diseases [RCV004625928] Chr1:240093694 [GRCh38]
Chr1:240256994 [GRCh37]
Chr1:1q43		 uncertain significance
NM_020066.5(FMN2):c.280C>A (p.Arg94Ser) single nucleotide variant Inborn genetic diseases [RCV004625925] Chr1:240092389 [GRCh38]
Chr1:240255689 [GRCh37]
Chr1:1q43		 uncertain significance
NM_020066.5(FMN2):c.1803G>A (p.Trp601Ter) single nucleotide variant not provided [RCV004592121] Chr1:240177941 [GRCh38]
Chr1:240341241 [GRCh37]
Chr1:1q43		 likely pathogenic
NM_020066.5(FMN2):c.1472C>T (p.Ala491Val) single nucleotide variant Inborn genetic diseases [RCV004625926] Chr1:240093581 [GRCh38]
Chr1:240256881 [GRCh37]
Chr1:1q43		 uncertain significance
NM_020066.5(FMN2):c.3417C>A (p.Gly1139=) single nucleotide variant not provided [RCV004575088] Chr1:240208229 [GRCh38]
Chr1:240371529 [GRCh37]
Chr1:1q43		 likely benign
NM_020066.5(FMN2):c.3839A>G (p.Lys1280Arg) single nucleotide variant Inborn genetic diseases [RCV004625924] Chr1:240208651 [GRCh38]
Chr1:240371951 [GRCh37]
Chr1:1q43		 likely benign
NM_020066.5(FMN2):c.762G>A (p.Leu254=) single nucleotide variant not provided [RCV004722442] Chr1:240092871 [GRCh38]
Chr1:240256171 [GRCh37]
Chr1:1q43		 benign
NM_020066.5(FMN2):c.618G>T (p.Gln206His) single nucleotide variant not provided [RCV004775180] Chr1:240092727 [GRCh38]
Chr1:240256027 [GRCh37]
Chr1:1q43		 uncertain significance
NM_020066.5(FMN2):c.3867T>C (p.Pro1289=) single nucleotide variant FMN2-related disorder [RCV004757836] Chr1:240208679 [GRCh38]
Chr1:240371979 [GRCh37]
Chr1:1q43		 likely benign
NM_020066.5(FMN2):c.3138A>C (p.Pro1046=) single nucleotide variant not provided [RCV004722557] Chr1:240207950 [GRCh38]
Chr1:240371250 [GRCh37]
Chr1:1q43		 likely benign
NM_020066.5(FMN2):c.3655C>T (p.Pro1219Ser) single nucleotide variant not provided [RCV004772155] Chr1:240208467 [GRCh38]
Chr1:240371767 [GRCh37]
Chr1:1q43		 uncertain significance
NM_020066.5(FMN2):c.1244C>A (p.Thr415Asn) single nucleotide variant not provided [RCV004760049]   uncertain significance
NM_020066.5(FMN2):c.2575C>T (p.Pro859Ser) single nucleotide variant not provided [RCV004721935] Chr1:240207387 [GRCh38]
Chr1:240370687 [GRCh37]
Chr1:1q43		 uncertain significance
NM_020066.5(FMN2):c.2488C>A (p.Pro830Thr) single nucleotide variant not provided [RCV004769025] Chr1:240207300 [GRCh38]
Chr1:240370600 [GRCh37]
Chr1:1q43		 uncertain significance
NM_020066.5(FMN2):c.1409G>C (p.Arg470Pro) single nucleotide variant not provided [RCV004769026] Chr1:240093518 [GRCh38]
Chr1:240256818 [GRCh37]
Chr1:1q43		 uncertain significance
NM_020066.5(FMN2):c.3709C>G (p.Leu1237Val) single nucleotide variant FMN2-related disorder [RCV004757759] Chr1:240208521 [GRCh38]
Chr1:240371821 [GRCh37]
Chr1:1q43		 benign
NM_020066.5(FMN2):c.87C>A (p.Pro29=) single nucleotide variant FMN2-related disorder [RCV004757790] Chr1:240092196 [GRCh38]
Chr1:240255496 [GRCh37]
Chr1:1q43		 likely benign
NM_020066.5(FMN2):c.1724G>A (p.Ser575Asn) single nucleotide variant not provided [RCV004772617] Chr1:240123287 [GRCh38]
Chr1:240286587 [GRCh37]
Chr1:1q43		 uncertain significance
NM_020066.5(FMN2):c.3599C>T (p.Pro1200Leu) single nucleotide variant not provided [RCV004764183]   uncertain significance
NM_020066.5(FMN2):c.5042A>G (p.Lys1681Arg) single nucleotide variant not provided [RCV004720100] Chr1:240438192 [GRCh38]
Chr1:240601492 [GRCh37]
Chr1:1q43		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1170
Count of miRNA genes:671
Interacting mature miRNAs:764
Transcripts:ENST00000319653, ENST00000441342, ENST00000447095, ENST00000463398, ENST00000496950, ENST00000543681, ENST00000545751
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
407122756GWAS771732_Hhair colour measurement QTL GWAS771732 (human)5e-10hair colour measurementcoat/hair color measurement (CMO:0001808)1240221023240221024Human
407007808GWAS656784_Hbone density QTL GWAS656784 (human)1e-20bone mineral mass (VT:0005007)bone mineral density (CMO:0001226)1240425468240425469Human
407090368GWAS739344_Hbone density QTL GWAS739344 (human)1e-10bone mineral mass (VT:0005007)bone mineral density (CMO:0001226)1240418353240418354Human
407007812GWAS656788_Hbone density QTL GWAS656788 (human)3e-20bone mineral mass (VT:0005007)bone mineral density (CMO:0001226)1240411628240411629Human
407087429GWAS736405_Hbone density QTL GWAS736405 (human)8e-14bone mineral mass (VT:0005007)bone mineral density (CMO:0001226)1240418353240418354Human
407124173GWAS773149_Hcoronary artery disease QTL GWAS773149 (human)0.000005coronary artery disease1240248913240248914Human
407124174GWAS773150_Hcoronary artery disease QTL GWAS773150 (human)0.000004coronary artery disease1240248985240248986Human
407124175GWAS773151_Hcoronary artery disease QTL GWAS773151 (human)0.000006coronary artery disease1240249913240249914Human
407089870GWAS738846_Hheel bone mineral density QTL GWAS738846 (human)5e-48heel bone mineral densitybone mineral density (CMO:0001226)1240423395240423396Human
407159241GWAS808217_Hclostridiales seropositivity QTL GWAS808217 (human)8e-09clostridiales seropositivity1240309725240309726Human
407007821GWAS656797_Hbone density QTL GWAS656797 (human)6e-20bone mineral mass (VT:0005007)bone mineral density (CMO:0001226)1240410910240410911Human
407017427GWAS666403_HDrugs affecting bone structure and mineralization use measurement QTL GWAS666403 (human)2e-08Drugs affecting bone structure and mineralization use measurement1240429336240429337Human
406979537GWAS628513_Halkaline phosphatase measurement QTL GWAS628513 (human)2e-10alkaline phosphatase measurementblood alkaline phosphatase activity level (CMO:0000576)1240433914240433915Human
407055696GWAS704672_Hheel bone mineral density QTL GWAS704672 (human)3e-275heel bone mineral densitybone mineral density (CMO:0001226)1240423395240423396Human
407124176GWAS773152_Hcoronary artery disease QTL GWAS773152 (human)0.000005coronary artery disease1240251312240251313Human
407124177GWAS773153_Hcoronary artery disease QTL GWAS773153 (human)0.000004coronary artery disease1240253568240253569Human
406947671GWAS596647_Hheel bone mineral density QTL GWAS596647 (human)5e-08heel bone mineral densitybone mineral density (CMO:0001226)1240274571240274572Human
407007828GWAS656804_Hbone density QTL GWAS656804 (human)9e-20bone mineral mass (VT:0005007)bone mineral density (CMO:0001226)1240433914240433915Human
407124178GWAS773154_Hcoronary artery disease QTL GWAS773154 (human)0.000005coronary artery disease1240254528240254529Human
407124179GWAS773155_Hcoronary artery disease QTL GWAS773155 (human)0.000007coronary artery disease1240258260240258261Human
407032154GWAS681130_Hheel bone mineral density QTL GWAS681130 (human)3e-206heel bone mineral densitybone mineral density (CMO:0001226)1240406111240406112Human
406947672GWAS596648_Hheel bone mineral density QTL GWAS596648 (human)4e-283heel bone mineral densitybone mineral density (CMO:0001226)1240423395240423396Human
407032155GWAS681131_Hheel bone mineral density QTL GWAS681131 (human)3e-279heel bone mineral densitybone mineral density (CMO:0001226)1240423395240423396Human
407093977GWAS742953_Hhair color QTL GWAS742953 (human)2e-08hair color1240239353240239354Human
407228126GWAS877102_Hurate measurement QTL GWAS877102 (human)0.000008urate measurementblood uric acid level (CMO:0000501)1240198146240198147Human
407032156GWAS681132_Hheel bone mineral density QTL GWAS681132 (human)6e-54heel bone mineral densitybone mineral density (CMO:0001226)1240423678240423679Human
407067107GWAS716083_Hheel bone mineral density QTL GWAS716083 (human)3e-39heel bone mineral densitybone mineral density (CMO:0001226)1240423395240423396Human
407084643GWAS733619_Hheel bone mineral density QTL GWAS733619 (human)1e-94heel bone mineral densitybone mineral density (CMO:0001226)1240423395240423396Human
407124837GWAS773813_HAlzheimer disease QTL GWAS773813 (human)7e-08Alzheimer disease1240441752240441753Human
407003489GWAS652465_Hvolumetric bone mineral density QTL GWAS652465 (human)0.0000001volumetric bone mineral densityvolumetric bone mineral density (CMO:0001553)1240429336240429337Human
406969828GWAS618804_Htriglyceride measurement, trait in response to hydrochlorothiazide QTL GWAS618804 (human)0.000004triglyceride measurement, trait in response to hydrochlorothiazideblood triglyceride level (CMO:0000118)1240120436240120437Human
407023716GWAS672692_Hbone density QTL GWAS672692 (human)2e-09bone mineral mass (VT:0005007)bone mineral density (CMO:0001226)1240433914240433915Human
407263724GWAS912700_Hbone density QTL GWAS912700 (human)1e-16bone mineral mass (VT:0005007)bone mineral density (CMO:0001226)1240406027240406028Human
407249898GWAS898874_Hcarotid atherosclerosis QTL GWAS898874 (human)0.000005carotid atherosclerosis1240436606240436607Human
407008749GWAS657725_Htotal cholesterol measurement QTL GWAS657725 (human)0.000008total cholesterol measurementblood total cholesterol level (CMO:0000051)1240261352240261354Human
407008626GWAS657602_Hbone density QTL GWAS657602 (human)1e-20bone mineral mass (VT:0005007)bone mineral density (CMO:0001226)1240429336240429337Human
407228912GWAS877888_Hbone density QTL GWAS877888 (human)1e-08bone mineral mass (VT:0005007)bone mineral density (CMO:0001226)1240397648240397649Human
407084409GWAS733385_Hnontoxic goiter QTL GWAS733385 (human)9e-09nontoxic goiter1240176512240176513Human
406999295GWAS648271_Hbody height QTL GWAS648271 (human)2e-11body height (VT:0001253)body height (CMO:0000106)1240225176240225177Human
407334905GWAS983881_Hplatelet count QTL GWAS983881 (human)4e-09platelet quantity (VT:0003179)platelet count (CMO:0000029)1240404017240404018Human
407035138GWAS684114_Hbone density QTL GWAS684114 (human)0.000007bone mineral mass (VT:0005007)bone mineral density (CMO:0001226)1240423395240423396Human
407076867GWAS725843_Herosive tooth wear measurement QTL GWAS725843 (human)0.000003erosive tooth wear measurement1240124798240124799Human
406950915GWAS599891_Hfemoral neck bone mineral density QTL GWAS599891 (human)1e-08femoral neck bone mineral densitybone mineral density (CMO:0001226)1240423395240423396Human
407026561GWAS675537_Hcoronary artery disease QTL GWAS675537 (human)0.000002coronary artery disease1240282296240282297Human
407076864GWAS725840_Herosive tooth wear measurement QTL GWAS725840 (human)0.000003erosive tooth wear measurement1240131716240131717Human
406980229GWAS629205_Hreading and spelling ability QTL GWAS629205 (human)0.000004reading and spelling ability1240321217240321218Human
407018377GWAS667353_Hbone density QTL GWAS667353 (human)3e-14bone mineral mass (VT:0005007)bone mineral density (CMO:0001226)1240406111240406112Human
406898060GWAS547036_Hcolorectal cancer QTL GWAS547036 (human)2e-08colorectal cancer1240245046240245047Human
407077139GWAS726115_Herosive tooth wear measurement QTL GWAS726115 (human)0.000003erosive tooth wear measurement1240133730240133731Human
406943760GWAS592736_Hbone density QTL GWAS592736 (human)6e-46bone mineral mass (VT:0005007)bone mineral density (CMO:0001226)1240425468240425469Human
406908818GWAS557794_Hbone density QTL GWAS557794 (human)1e-44bone mineral mass (VT:0005007)bone mineral density (CMO:0001226)1240425468240425469Human
407077137GWAS726113_Herosive tooth wear measurement QTL GWAS726113 (human)0.000002erosive tooth wear measurement1240123416240123417Human
407267092GWAS916068_Hbody height QTL GWAS916068 (human)4e-10body height (VT:0001253)body height (CMO:0000106)1240200887240200888Human
407267093GWAS916069_Hbody height QTL GWAS916069 (human)4e-52body height (VT:0001253)body height (CMO:0000106)1240213231240213232Human
407003418GWAS652394_Hvolumetric bone mineral density QTL GWAS652394 (human)1e-11volumetric bone mineral densityvolumetric bone mineral density (CMO:0001553)1240429336240429337Human
407085209GWAS734185_Hheel bone mineral density QTL GWAS734185 (human)8e-14heel bone mineral densitybone mineral density (CMO:0001226)1240423395240423396Human
407073304GWAS722280_Hheel bone mineral density QTL GWAS722280 (human)1e-87heel bone mineral densitybone mineral density (CMO:0001226)1240423395240423396Human
407129242GWAS778218_Hbone fracture QTL GWAS778218 (human)4e-17bone fracture1240433914240433915Human
407008285GWAS657261_Hbone density QTL GWAS657261 (human)3e-21bone mineral mass (VT:0005007)bone mineral density (CMO:0001226)1240423395240423396Human
407346456GWAS995432_Hcortical thickness QTL GWAS995432 (human)4e-08cortical thickness1240359074240359075Human
407325479GWAS974455_Hbone density QTL GWAS974455 (human)1e-15bone mineral mass (VT:0005007)bone mineral density (CMO:0001226)1240425817240425818Human
407008291GWAS657267_Hbone density QTL GWAS657267 (human)6e-21bone mineral mass (VT:0005007)bone mineral density (CMO:0001226)1240418353240418354Human
407022115GWAS671091_Hplatelet count QTL GWAS671091 (human)4e-12platelet quantity (VT:0003179)platelet count (CMO:0000029)1240404017240404018Human
407325475GWAS974451_Hbone density QTL GWAS974451 (human)0.0000009bone mineral mass (VT:0005007)bone mineral density (CMO:0001226)1240444264240444265Human
407399458GWAS1048434_Hcolorectal cancer QTL GWAS1048434 (human)3e-08colorectal cancer1240363780240363781Human
407003311GWAS652287_Hcoronary artery disease QTL GWAS652287 (human)0.000005coronary artery disease1240258782240258783Human
407284393GWAS933369_Halkaline phosphatase measurement QTL GWAS933369 (human)3e-11alkaline phosphatase measurementblood alkaline phosphatase activity level (CMO:0000576)1240425468240425469Human
407309878GWAS958854_Hbody height QTL GWAS958854 (human)3e-08body height (VT:0001253)body height (CMO:0000106)1240186877240186878Human
407268148GWAS917124_Hbody height QTL GWAS917124 (human)2e-11body height (VT:0001253)body height (CMO:0000106)1240433246240433247Human
407381051GWAS1030027_Hacute myeloid leukemia QTL GWAS1030027 (human)6e-19acute myeloid leukemia1240315765240315766Human
407381052GWAS1030028_Hacute myeloid leukemia QTL GWAS1030028 (human)9e-11acute myeloid leukemia1240315765240315766Human
407044154GWAS693130_Hplatelet count QTL GWAS693130 (human)2e-12platelet quantity (VT:0003179)platelet count (CMO:0000029)1240404017240404018Human
406965308GWAS614284_Haggressive behavior QTL GWAS614284 (human)0.000009aggressive behavior1240462131240462132Human

Markers in Region
RH65279  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373184,026,605 - 184,026,763UniSTSGRCh37
GRCh371240,305,883 - 240,306,040UniSTSGRCh37
Build 361238,372,506 - 238,372,663RGDNCBI36
Celera3182,467,288 - 182,467,446RGD
Cytogenetic Map1q43UniSTS
Cytogenetic Map3q27.1UniSTS
HuRef3181,433,569 - 181,433,727UniSTS
AL033858  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371240,542,455 - 240,542,600UniSTSGRCh37
Build 361238,609,078 - 238,609,223RGDNCBI36
Celera1213,797,328 - 213,797,473RGD
Cytogenetic Map1q43UniSTS
HuRef1211,000,961 - 211,001,106UniSTS
RH119769  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371240,516,112 - 240,516,438UniSTSGRCh37
Build 361238,582,735 - 238,583,061RGDNCBI36
Celera1213,770,983 - 213,771,309RGD
Cytogenetic Map1q43UniSTS
HuRef1210,974,736 - 210,975,062UniSTS
TNG Radiation Hybrid Map1121668.0UniSTS
RH119019  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371240,505,215 - 240,505,549UniSTSGRCh37
Build 361238,571,838 - 238,572,172RGDNCBI36
Celera1213,760,086 - 213,760,420RGD
Cytogenetic Map1q43UniSTS
HuRef1210,963,835 - 210,964,169UniSTS
TNG Radiation Hybrid Map1121659.0UniSTS
G62053  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373184,026,614 - 184,026,796UniSTSGRCh37
GRCh371240,305,850 - 240,306,031UniSTSGRCh37
Build 361238,372,473 - 238,372,654RGDNCBI36
Celera3182,467,297 - 182,467,479UniSTS
Celera1213,561,079 - 213,561,260RGD
Cytogenetic Map1q43UniSTS
Cytogenetic Map3q27.1UniSTS
HuRef3181,433,578 - 181,433,760UniSTS
HuRef1210,764,146 - 210,764,329UniSTS
G62998  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371240,394,212 - 240,394,541UniSTSGRCh37
Build 361238,460,835 - 238,461,164RGDNCBI36
Celera1213,649,100 - 213,649,429RGD
Cytogenetic Map1q43UniSTS
HuRef1210,851,296 - 210,851,625UniSTS
TNG Radiation Hybrid Map1121609.0UniSTS
SHGC-132176  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371240,331,941 - 240,332,240UniSTSGRCh37
Build 361238,398,564 - 238,398,863RGDNCBI36
Celera1213,587,187 - 213,587,486RGD
Cytogenetic Map1q43UniSTS
HuRef1210,790,268 - 210,790,567UniSTS
TNG Radiation Hybrid Map1121570.0UniSTS
SHGC-143089  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371240,427,115 - 240,427,451UniSTSGRCh37
Build 361238,493,738 - 238,494,074RGDNCBI36
Celera1213,681,996 - 213,682,332RGD
Cytogenetic Map1q43UniSTS
HuRef1210,885,753 - 210,886,089UniSTS
TNG Radiation Hybrid Map1121599.0UniSTS
SHGC-145799  
Human AssemblyChrPosition (strand)SourceJBrowse
Celera1213,612,346 - 213,612,686RGD
Cytogenetic Map1q43UniSTS
HuRef1210,815,773 - 210,816,113UniSTS
TNG Radiation Hybrid Map1121592.0UniSTS
SHGC-148105  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371240,637,784 - 240,638,090UniSTSGRCh37
Build 361238,704,407 - 238,704,713RGDNCBI36
Celera1213,892,824 - 213,893,130RGD
Cytogenetic Map1q43UniSTS
HuRef1211,096,057 - 211,096,364UniSTS
TNG Radiation Hybrid Map1121682.0UniSTS
T03659  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373184,026,258 - 184,026,618UniSTSGRCh37
GRCh371240,306,027 - 240,306,247UniSTSGRCh37
Build 361238,372,650 - 238,372,870RGDNCBI36
Celera1213,561,256 - 213,561,476RGD
Celera3182,466,941 - 182,467,301UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map1q43UniSTS
HuRef3181,433,222 - 181,433,582UniSTS
HuRef1210,764,325 - 210,764,545UniSTS
Whitehead-YAC Contig Map3 UniSTS
D1S2600  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371240,331,926 - 240,332,083UniSTSGRCh37
Build 361238,398,549 - 238,398,706RGDNCBI36
Celera1213,587,172 - 213,587,329RGD
Cytogenetic Map1q43UniSTS
HuRef1210,790,253 - 210,790,410UniSTS
Stanford-G3 RH Map19328.0UniSTS
NCBI RH Map11977.0UniSTS
AL009721  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371240,264,098 - 240,264,258UniSTSGRCh37
Build 361238,330,721 - 238,330,881RGDNCBI36
Celera1213,519,320 - 213,519,480RGD
Cytogenetic Map1q43UniSTS
HuRef1210,722,351 - 210,722,511UniSTS


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
1203 2297 2708 2066 4918 1444 1969 2 363 929 204 2246 5546 5250 33 3704 695 1617 1495 163

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_042054 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001305424 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001348094 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_020066 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011544237 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017001837 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017001838 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017001840 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017001841 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047425620 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB209153 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF218941 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF218942 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF225426 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK297716 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK297755 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK298141 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL356361 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL359918 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL513342 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL590490 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL646016 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC014364 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC112335 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC112361 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471098 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB476003 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DN990332 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000319653   ⟹   ENSP00000318884
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1240,091,883 - 240,475,187 (+)Ensembl
Ensembl Acc Id: ENST00000441342   ⟹   ENSP00000388922
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1240,245,260 - 240,329,392 (+)Ensembl
Ensembl Acc Id: ENST00000447095   ⟹   ENSP00000409308
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1240,014,348 - 240,207,187 (+)Ensembl
Ensembl Acc Id: ENST00000463398
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1240,235,771 - 240,330,676 (+)Ensembl
Ensembl Acc Id: ENST00000496950
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1240,472,098 - 240,474,709 (+)Ensembl
Ensembl Acc Id: ENST00000543681   ⟹   ENSP00000439136
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1240,457,493 - 240,474,267 (+)Ensembl
Ensembl Acc Id: ENST00000545751   ⟹   ENSP00000437918
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1240,188,207 - 240,475,168 (+)Ensembl
Ensembl Acc Id: ENST00000679390
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1240,257,501 - 240,475,168 (+)Ensembl
Ensembl Acc Id: ENST00000679646
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1240,340,551 - 240,475,168 (+)Ensembl
Ensembl Acc Id: ENST00000679725
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1240,208,577 - 240,241,160 (+)Ensembl
Ensembl Acc Id: ENST00000679980   ⟹   ENSP00000505449
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1240,206,804 - 240,475,168 (+)Ensembl
Ensembl Acc Id: ENST00000681131   ⟹   ENSP00000505711
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1240,257,953 - 240,475,168 (+)Ensembl
Ensembl Acc Id: ENST00000681210   ⟹   ENSP00000505131
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1240,123,127 - 240,475,168 (+)Ensembl
Ensembl Acc Id: ENST00000681296
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1240,332,116 - 240,475,169 (+)Ensembl
Ensembl Acc Id: ENST00000681741   ⟹   ENSP00000505116
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1240,123,133 - 240,475,168 (+)Ensembl
Ensembl Acc Id: ENST00000681743
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1240,285,231 - 240,371,664 (+)Ensembl
Ensembl Acc Id: ENST00000681805   ⟹   ENSP00000505049
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1240,257,995 - 240,475,168 (+)Ensembl
Ensembl Acc Id: ENST00000681824   ⟹   ENSP00000505818
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1240,123,182 - 240,475,168 (+)Ensembl
RefSeq Acc Id: NM_001305424   ⟹   NP_001292353
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381240,091,883 - 240,475,187 (+)NCBI
CHM1_11241,528,744 - 241,910,469 (+)NCBI
T2T-CHM13v2.01239,505,207 - 239,886,446 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001348094   ⟹   NP_001335023
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381240,091,883 - 240,475,187 (+)NCBI
T2T-CHM13v2.01239,505,207 - 239,886,446 (+)NCBI
Sequence:
RefSeq Acc Id: NM_020066   ⟹   NP_064450
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381240,091,883 - 240,475,187 (+)NCBI
GRCh371240,255,185 - 240,638,491 (+)NCBI
Build 361238,321,604 - 238,705,112 (+)NCBI Archive
Celera1213,510,402 - 213,893,529 (+)RGD
HuRef1210,713,436 - 211,096,763 (+)RGD
CHM1_11241,528,744 - 241,910,469 (+)NCBI
T2T-CHM13v2.01239,505,207 - 239,886,446 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011544237   ⟹   XP_011542539
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381240,091,883 - 240,241,172 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017001837   ⟹   XP_016857326
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381240,091,883 - 240,329,149 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017001838   ⟹   XP_016857327
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381240,091,883 - 240,234,413 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017001840   ⟹   XP_016857329
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381240,165,504 - 240,475,187 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017001841   ⟹   XP_016857330
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381240,139,792 - 240,475,187 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047425620   ⟹   XP_047281576
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381240,091,883 - 240,241,172 (+)NCBI
RefSeq Acc Id: NP_064450   ⟸   NM_020066
- Peptide Label: isoform 2
- UniProtKB: Q5VU37 (UniProtKB/Swiss-Prot),   Q59GF6 (UniProtKB/Swiss-Prot),   B4DP05 (UniProtKB/Swiss-Prot),   B0QZA7 (UniProtKB/Swiss-Prot),   Q9NZ55 (UniProtKB/Swiss-Prot),   Q9NZ56 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011542539   ⟸   XM_011544237
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: NP_001292353   ⟸   NM_001305424
- Peptide Label: isoform 1
- UniProtKB: Q9NZ56 (UniProtKB/Swiss-Prot),   Q9HBL1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016857326   ⟸   XM_017001837
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_016857327   ⟸   XM_017001838
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_016857330   ⟸   XM_017001841
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: XP_016857329   ⟸   XM_017001840
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: NP_001335023   ⟸   NM_001348094
- Peptide Label: isoform 3
- Sequence:
Ensembl Acc Id: ENSP00000439136   ⟸   ENST00000543681
Ensembl Acc Id: ENSP00000437918   ⟸   ENST00000545751
Ensembl Acc Id: ENSP00000388922   ⟸   ENST00000441342
Ensembl Acc Id: ENSP00000409308   ⟸   ENST00000447095
Ensembl Acc Id: ENSP00000318884   ⟸   ENST00000319653
Ensembl Acc Id: ENSP00000505711   ⟸   ENST00000681131
Ensembl Acc Id: ENSP00000505049   ⟸   ENST00000681805
Ensembl Acc Id: ENSP00000505116   ⟸   ENST00000681741
Ensembl Acc Id: ENSP00000505818   ⟸   ENST00000681824
Ensembl Acc Id: ENSP00000505131   ⟸   ENST00000681210
Ensembl Acc Id: ENSP00000505449   ⟸   ENST00000679980
RefSeq Acc Id: XP_047281576   ⟸   XM_047425620
- Peptide Label: isoform X4
Protein Domains
FH1   FH2

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9NZ56-F1-model_v2 AlphaFold Q9NZ56 1-1722 view protein structure


Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:14074 AgrOrtholog
COSMIC FMN2 COSMIC
Ensembl Genes ENSG00000155816 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000319653 ENTREZGENE
  ENST00000319653.14 UniProtKB/Swiss-Prot
  ENST00000441342.1 UniProtKB/TrEMBL
  ENST00000447095.5 UniProtKB/TrEMBL
  ENST00000545751.3 UniProtKB/TrEMBL
  ENST00000679980.1 UniProtKB/TrEMBL
  ENST00000681131.1 UniProtKB/TrEMBL
  ENST00000681210.1 UniProtKB/TrEMBL
  ENST00000681741.1 UniProtKB/TrEMBL
  ENST00000681805.1 UniProtKB/TrEMBL
  ENST00000681824.1 UniProtKB/TrEMBL
Gene3D-CATH 1.20.58.2220 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000155816 GTEx
HGNC ID HGNC:14074 ENTREZGENE
Human Proteome Map FMN2 Human Proteome Map
InterPro DEP_dom UniProtKB/Swiss-Prot
  FH2_Formin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FH2_Formin_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Formin_Cappuccino_subfam UniProtKB/TrEMBL
KEGG Report hsa:56776 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 56776 ENTREZGENE
OMIM 606373 OMIM
PANTHER FORMIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FORMIN-2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam FH2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA28185 PharmGKB
PRINTS FORMIN UniProtKB/TrEMBL
  PRICHEXTENSN UniProtKB/Swiss-Prot
PROSITE FH2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART FH2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP Formin homology 2 domain (FH2 domain) UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A0A0MTF8_HUMAN UniProtKB/TrEMBL
  A0A7P0T8C5_HUMAN UniProtKB/TrEMBL
  A0A7P0T8F6_HUMAN UniProtKB/TrEMBL
  A0A7P0T994_HUMAN UniProtKB/TrEMBL
  A0A7P0T9J5_HUMAN UniProtKB/TrEMBL
  A0A7P0TA49_HUMAN UniProtKB/TrEMBL
  A0A7P0Z432_HUMAN UniProtKB/TrEMBL
  B0QZA7 ENTREZGENE
  B0QZA8_HUMAN UniProtKB/TrEMBL
  B0QZD5_HUMAN UniProtKB/TrEMBL
  B4DP05 ENTREZGENE
  FMN2_HUMAN UniProtKB/Swiss-Prot
  Q2M1H5_HUMAN UniProtKB/TrEMBL
  Q59GF6 ENTREZGENE
  Q5VU37 ENTREZGENE
  Q96L17_HUMAN UniProtKB/TrEMBL
  Q9HBL1 ENTREZGENE, UniProtKB/TrEMBL
  Q9NZ55 ENTREZGENE
  Q9NZ56 ENTREZGENE
UniProt Secondary B0QZA7 UniProtKB/Swiss-Prot
  B4DP05 UniProtKB/Swiss-Prot
  Q59GF6 UniProtKB/Swiss-Prot
  Q5VU37 UniProtKB/Swiss-Prot
  Q9NZ55 UniProtKB/Swiss-Prot