ZNF408 (zinc finger protein 408) - Rat Genome Database

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Gene: ZNF408 (zinc finger protein 408) Homo sapiens
Analyze
Symbol: ZNF408
Name: zinc finger protein 408
RGD ID: 1315189
HGNC Page HGNC:20041
Description: Enables identical protein binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Located in nucleus. Implicated in exudative vitreoretinopathy 6 and retinitis pigmentosa 72.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: EVR6; FLJ12827; PR domain zinc finger protein 17; RP72
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381146,701,031 - 46,705,912 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1146,701,030 - 46,705,912 (+)EnsemblGRCh38hg38GRCh38
GRCh371146,722,581 - 46,727,462 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361146,678,944 - 46,684,037 (+)NCBINCBI36Build 36hg18NCBI36
Build 341146,678,943 - 46,684,037NCBI
Celera1146,870,748 - 46,875,897 (+)NCBICelera
Cytogenetic Map11p11.2NCBI
HuRef1146,428,356 - 46,433,505 (+)NCBIHuRef
CHM1_11146,720,727 - 46,725,876 (+)NCBICHM1_1
T2T-CHM13v2.01146,857,047 - 46,861,916 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
nucleus  (IDA,IEA)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal central response of multifocal electroretinogram  (IAGP)
Abnormal electroretinogram  (IAGP)
Abnormal full-field electroretinogram  (IAGP)
Abnormal optic disc morphology  (IAGP)
Abnormal retinal vascular morphology  (IAGP)
Abnormality of retinal pigmentation  (IAGP)
Attenuation of retinal blood vessels  (IAGP)
Autosomal dominant inheritance  (IAGP)
Autosomal recessive inheritance  (IAGP)
Blindness  (IAGP)
Bone spicule pigmentation of the retina  (IAGP)
Cataract  (IAGP)
Childhood onset  (IAGP)
Chorioretinal atrophy  (IAGP)
Color vision defect  (IAGP)
Conductive hearing impairment  (IAGP)
Constriction of peripheral visual field  (IAGP)
Cortical cataract  (IAGP)
Cystoid macular edema  (IAGP)
Epiretinal membrane  (IAGP)
Esodeviation  (IAGP)
Exudative vitreoretinopathy  (IAGP)
Falciform retinal fold  (IAGP)
Glaucoma  (IAGP)
Hearing impairment  (IAGP)
High myopia  (IAGP)
Horizontal nystagmus  (IAGP)
Hyperinsulinemia  (IAGP)
Infantile onset  (IAGP)
Intellectual disability  (IAGP)
Intellectual disability, mild  (IAGP)
Juvenile onset  (IAGP)
Keratoconus  (IAGP)
Lymphedema  (IAGP)
Macular edema  (IAGP)
Macular exudate  (IAGP)
Macular telangiectasia  (IAGP)
Microcephaly  (IAGP)
Microphthalmia  (IAGP)
Middle age onset  (IAGP)
Mild global developmental delay  (IAGP)
Motor delay  (IAGP)
Myopia  (IAGP)
Neonatal onset  (IAGP)
Nuclear cataract  (IAGP)
Nyctalopia  (IAGP)
Nystagmus  (IAGP)
Ophthalmoplegia  (IAGP)
Optic atrophy  (IAGP)
Optic disc drusen  (IAGP)
Optic disc pallor  (IAGP)
Patchy atrophy of the retinal pigment epithelium  (IAGP)
Peripapillary atrophy  (IAGP)
Peripheral retinal avascularization  (IAGP)
Peripheral visual field loss  (IAGP)
Photophobia  (IAGP)
Photopsia  (IAGP)
Photoreceptor outer segment loss on macular OCT  (IAGP)
Posterior subcapsular cataract  (IAGP)
Posterior vitreous detachment  (IAGP)
Progressive night blindness  (IAGP)
Progressive visual loss  (IAGP)
Reduced bone mineral density  (IAGP)
Reduced visual acuity  (IAGP)
Retinal atrophy  (IAGP)
Retinal degeneration  (IAGP)
Retinal detachment  (IAGP)
Retinal dystrophy  (IAGP)
Retinal exudate  (IAGP)
Retinal hole  (IAGP)
Retinal neovascularization  (IAGP)
Rhegmatogenous retinal detachment  (IAGP)
Rod-cone dystrophy  (IAGP)
Sensorineural hearing impairment  (IAGP)
Severely reduced visual acuity  (IAGP)
Subretinal fluid  (IAGP)
Tractional retinal detachment  (IAGP)
Visual impairment  (IAGP)
Vitreoretinopathy  (IAGP)
Vitreous floaters  (IAGP)
Vitreous hemorrhage  (IAGP)
Young adult onset  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
4. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:12477932   PMID:14667819   PMID:14702039   PMID:15231747   PMID:15489334   PMID:16189514   PMID:16344560   PMID:18255255   PMID:18482256   PMID:19060904   PMID:19801982   PMID:20211142  
PMID:20301590   PMID:21873635   PMID:22504420   PMID:22810586   PMID:23716654   PMID:25416956   PMID:25882705   PMID:25910212   PMID:26496610   PMID:27107014   PMID:27316669   PMID:28095122  
PMID:28514442   PMID:29676528   PMID:29721947   PMID:29982478   PMID:30097784   PMID:31586073   PMID:32296183   PMID:32694731   PMID:33961781   PMID:35748872   PMID:36774506   PMID:37684015  


Genomics

Comparative Map Data
ZNF408
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381146,701,031 - 46,705,912 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1146,701,030 - 46,705,912 (+)EnsemblGRCh38hg38GRCh38
GRCh371146,722,581 - 46,727,462 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361146,678,944 - 46,684,037 (+)NCBINCBI36Build 36hg18NCBI36
Build 341146,678,943 - 46,684,037NCBI
Celera1146,870,748 - 46,875,897 (+)NCBICelera
Cytogenetic Map11p11.2NCBI
HuRef1146,428,356 - 46,433,505 (+)NCBIHuRef
CHM1_11146,720,727 - 46,725,876 (+)NCBICHM1_1
T2T-CHM13v2.01146,857,047 - 46,861,916 (+)NCBIT2T-CHM13v2.0
Zfp408
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39291,473,101 - 91,480,372 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl291,474,014 - 91,480,136 (-)EnsemblGRCm39 Ensembl
GRCm38291,642,756 - 91,650,051 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl291,643,669 - 91,649,791 (-)EnsemblGRCm38mm10GRCm38
MGSCv37291,483,845 - 91,489,948 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36291,444,509 - 91,450,630 (-)NCBIMGSCv36mm8
Celera293,033,201 - 93,039,338 (-)NCBICelera
Cytogenetic Map2E1NCBI
cM Map250.63NCBI
Znf408
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8398,071,210 - 98,077,075 (-)NCBIGRCr8
mRatBN7.2377,615,595 - 77,621,325 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl377,616,808 - 77,621,055 (-)EnsemblmRatBN7.2 Ensembl
Rnor_6.0380,549,102 - 80,555,186 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0387,248,337 - 87,253,997 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4376,025,925 - 76,029,792 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera376,820,747 - 76,826,831 (-)NCBICelera
Cytogenetic Map3q24NCBI
Znf408
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_0049554221,373,694 - 1,377,688 (-)NCBIChiLan1.0ChiLan1.0
ZNF408
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2948,906,001 - 48,911,189 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11148,925,805 - 48,930,960 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01146,651,421 - 46,656,514 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11147,209,922 - 47,215,070 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1147,209,922 - 47,215,070 (+)Ensemblpanpan1.1panPan2
ZNF408
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11842,808,820 - 42,813,422 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1842,808,874 - 42,813,276 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1841,537,548 - 41,542,223 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01843,464,083 - 43,469,596 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1843,464,932 - 43,469,385 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11842,949,121 - 42,954,632 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01842,505,620 - 42,510,240 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01843,234,035 - 43,239,549 (-)NCBIUU_Cfam_GSD_1.0
Znf408
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494720,283,174 - 20,289,249 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365622,393,751 - 2,400,650 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365622,394,368 - 2,400,924 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ZNF408
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl215,826,654 - 15,834,246 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1215,829,489 - 15,834,549 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2217,180,517 - 17,185,354 (-)NCBISscrofa10.2Sscrofa10.2susScr3
Znf408
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247671,900,429 - 1,905,612 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in ZNF408
544 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 11p13-11.2(chr11:35663578-46959820)x1 copy number loss See cases [RCV000052679] Chr11:35663578..46959820 [GRCh38]
Chr11:35685126..46981371 [GRCh37]
Chr11:35641702..46937947 [NCBI36]
Chr11:11p13-11.2		 pathogenic
GRCh38/hg38 11p12-11.2(chr11:36508280-48643003)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052680]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052680]|See cases [RCV000052680] Chr11:36508280..48643003 [GRCh38]
Chr11:36529830..48664555 [GRCh37]
Chr11:36486406..48621131 [NCBI36]
Chr11:11p12-11.2		 pathogenic
NM_024741.3(ZNF408):c.583A>G (p.Thr195Ala) single nucleotide variant not provided [RCV001348192] Chr11:46703174 [GRCh38]
Chr11:46724724 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.2T>C (p.Met1Thr) single nucleotide variant not provided [RCV002015027] Chr11:46701049 [GRCh38]
Chr11:46722599 [GRCh37]
Chr11:11p11.2		 pathogenic|uncertain significance
Single allele deletion Intellectual disability [RCV001293382] Chr11:118359328..118372573 [GRCh37]
Chr11:11p15.3-q23.3		 pathogenic
NM_024741.3(ZNF408):c.1387G>C (p.Ala463Pro) single nucleotide variant not provided [RCV001348168] Chr11:46705087 [GRCh38]
Chr11:46726637 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.53C>T (p.Ala18Val) single nucleotide variant not provided [RCV001348732] Chr11:46701399 [GRCh38]
Chr11:46722949 [GRCh37]
Chr11:11p11.2		 uncertain significance
GRCh38/hg38 11p12-11.2(chr11:41118322-48643003)x1 copy number loss See cases [RCV000135405] Chr11:41118322..48643003 [GRCh38]
Chr11:41139872..48664555 [GRCh37]
Chr11:41096448..48621131 [NCBI36]
Chr11:11p12-11.2		 pathogenic
GRCh38/hg38 11p12-11.12(chr11:39179252-49135735)x1 copy number loss See cases [RCV000137391] Chr11:39179252..49135735 [GRCh38]
Chr11:39200802..49157287 [GRCh37]
Chr11:39157378..49113863 [NCBI36]
Chr11:11p12-11.12		 pathogenic
GRCh38/hg38 11p12-11.12(chr11:42727555-49135735)x3 copy number gain See cases [RCV000139422] Chr11:42727555..49135735 [GRCh38]
Chr11:42749105..49157287 [GRCh37]
Chr11:42705681..49113863 [NCBI36]
Chr11:11p12-11.12		 likely pathogenic
GRCh38/hg38 11p11.2(chr11:46420955-46728372)x3 copy number gain See cases [RCV000141333] Chr11:46420955..46728372 [GRCh38]
Chr11:46442505..46749922 [GRCh37]
Chr11:46399081..46706498 [NCBI36]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.363_364del (p.Ala122fs) microsatellite Retinitis pigmentosa 72 [RCV000186511] Chr11:46702731..46702732 [GRCh38]
Chr11:46724281..46724282 [GRCh37]
Chr11:11p11.2		 pathogenic
NM_024741.3(ZNF408):c.1363C>T (p.His455Tyr) single nucleotide variant Exudative vitreoretinopathy 6 [RCV000186509]|Retinal dystrophy [RCV004816315]|not provided [RCV002292482] Chr11:46705063 [GRCh38]
Chr11:46726613 [GRCh37]
Chr11:11p11.2		 pathogenic|likely pathogenic
NM_024741.3(ZNF408):c.377G>A (p.Ser126Asn) single nucleotide variant Exudative vitreoretinopathy 6 [RCV000186510]|Retinal dystrophy [RCV003888638]|not provided [RCV001857599] Chr11:46702750 [GRCh38]
Chr11:46724300 [GRCh37]
Chr11:11p11.2		 likely pathogenic|likely benign|uncertain significance
NM_024741.3(ZNF408):c.1621C>T (p.Arg541Cys) single nucleotide variant Exudative vitreoretinopathy 6 [RCV002492860]|Retinal dystrophy [RCV001073959]|Retinitis pigmentosa 72 [RCV000186512]|not provided [RCV001246705] Chr11:46705321 [GRCh38]
Chr11:46726871 [GRCh37]
Chr11:11p11.2		 pathogenic|likely pathogenic|uncertain significance
NM_024741.2(ZNF408):c.-214_-210delGAATC deletion Exudative vitreoretinopathy 1 [RCV000190407] Chr11:46700832..46700836 [GRCh38]
Chr11:46722382..46722386 [GRCh37]
Chr11:11p11.2		 likely pathogenic|uncertain significance
NM_024741.2(ZNF408):c.-111C>A single nucleotide variant Exudative vitreoretinopathy 1 [RCV000190408] Chr11:46700937 [GRCh38]
Chr11:46722487 [GRCh37]
Chr11:11p11.2		 likely benign|uncertain significance
NM_024741.3(ZNF408):c.130C>T (p.Pro44Ser) single nucleotide variant Exudative vitreoretinopathy 1 [RCV000190409] Chr11:46701476 [GRCh38]
Chr11:46723026 [GRCh37]
Chr11:11p11.2		 likely pathogenic|uncertain significance
NM_024741.3(ZNF408):c.402A>G (p.Gln134=) single nucleotide variant Exudative vitreoretinopathy 1 [RCV000190410]|not provided [RCV002515119] Chr11:46702993 [GRCh38]
Chr11:46724543 [GRCh37]
Chr11:11p11.2		 likely benign|uncertain significance
NM_024741.3(ZNF408):c.694A>G (p.Met232Val) single nucleotide variant Exudative vitreoretinopathy 1 [RCV000190411] Chr11:46704394 [GRCh38]
Chr11:46725944 [GRCh37]
Chr11:11p11.2		 likely benign|uncertain significance
NM_024741.3(ZNF408):c.1850C>A (p.Thr617Asn) single nucleotide variant Exudative vitreoretinopathy 1 [RCV000190412]|Retinal dystrophy [RCV004815253]|not provided [RCV001213922] Chr11:46705550 [GRCh38]
Chr11:46727100 [GRCh37]
Chr11:11p11.2		 likely pathogenic|uncertain significance
NM_024741.3(ZNF408):c.2145G>T (p.Glu715Asp) single nucleotide variant Exudative vitreoretinopathy 1 [RCV000190413] Chr11:46705845 [GRCh38]
Chr11:46727395 [GRCh37]
Chr11:11p11.2		 likely pathogenic|uncertain significance
NM_024741.3(ZNF408):c.581_592del (p.Val194_Val197del) deletion Retinal dystrophy [RCV003888664]|not provided [RCV000948864]|not specified [RCV000248955] Chr11:46703167..46703178 [GRCh38]
Chr11:46724717..46724728 [GRCh37]
Chr11:11p11.2		 benign
NM_024741.3(ZNF408):c.366C>G (p.Ala122=) single nucleotide variant not provided [RCV001520977]|not specified [RCV000244781] Chr11:46702739 [GRCh38]
Chr11:46724289 [GRCh37]
Chr11:11p11.2		 benign
GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3 copy number gain MISSED ABORTION [RCV002282973] Chr11:32799481..134938470 [GRCh37]
Chr11:11p13-q25		 pathogenic
NM_024741.3(ZNF408):c.1471A>G (p.Thr491Ala) single nucleotide variant not provided [RCV000521460] Chr11:46705171 [GRCh38]
Chr11:46726721 [GRCh37]
Chr11:11p11.2		 uncertain significance
GRCh37/hg19 11p12-11.2(chr11:42475897-48372559)x1 copy number loss See cases [RCV000446383] Chr11:42475897..48372559 [GRCh37]
Chr11:11p12-11.2		 pathogenic
NM_024741.3(ZNF408):c.740A>G (p.Lys247Arg) single nucleotide variant not provided [RCV000417438] Chr11:46704440 [GRCh38]
Chr11:46725990 [GRCh37]
Chr11:11p11.2		 uncertain significance
GRCh37/hg19 11p14.2-11.12(chr11:26574629-50508019)x3 copy number gain See cases [RCV000448603] Chr11:26574629..50508019 [GRCh37]
Chr11:11p14.2-11.12		 pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470) copy number gain See cases [RCV000511729] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3 copy number gain See cases [RCV000510881] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
NM_024741.3(ZNF408):c.374A>T (p.Gln125Leu) single nucleotide variant Inborn genetic diseases [RCV003300383] Chr11:46702747 [GRCh38]
Chr11:46724297 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.126C>G (p.Asp42Glu) single nucleotide variant not provided [RCV000658591] Chr11:46701472 [GRCh38]
Chr11:46723022 [GRCh37]
Chr11:11p11.2		 uncertain significance
Single allele deletion not provided [RCV000677957] Chr11:46560512..46704422 [GRCh38]
Chr11:46582062..46725972 [GRCh37]
Chr11:11p11.2		 uncertain significance
GRCh37/hg19 11p11.2(chr11:46502259-46745473)x3 copy number gain not provided [RCV000683320] Chr11:46502259..46745473 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.1174T>C (p.Ser392Pro) single nucleotide variant Familial exudative vitreoretinopathy [RCV001003293]|not provided [RCV004789308] Chr11:46704874 [GRCh38]
Chr11:46726424 [GRCh37]
Chr11:11p11.2		 likely pathogenic|uncertain significance
NM_024741.3(ZNF408):c.1357C>T (p.Arg453Trp) single nucleotide variant Retinal dystrophy [RCV004814172] Chr11:46705057 [GRCh38]
Chr11:46726607 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.274G>T (p.Glu92Ter) single nucleotide variant Retinal dystrophy [RCV004814216] Chr11:46701620 [GRCh38]
Chr11:46723170 [GRCh37]
Chr11:11p11.2		 pathogenic
GRCh37/hg19 11p15.5-q25(chr11:198510-134934063)x3 copy number gain not provided [RCV000737348] Chr11:198510..134934063 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
GRCh37/hg19 11p15.5-q25(chr11:70864-134938470)x3 copy number gain not provided [RCV000749874] Chr11:70864..134938470 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
NC_000011.10:g.46700671T>C single nucleotide variant not provided [RCV001690241] Chr11:46700671 [GRCh38]
Chr11:46722221 [GRCh37]
Chr11:11p11.2		 benign
NM_024741.3(ZNF408):c.331-186G>C single nucleotide variant not provided [RCV001610900] Chr11:46702518 [GRCh38]
Chr11:46724068 [GRCh37]
Chr11:11p11.2		 benign
NM_024741.3(ZNF408):c.1889G>C (p.Arg630Pro) single nucleotide variant Inborn genetic diseases [RCV004031823]|not provided [RCV001057743] Chr11:46705589 [GRCh38]
Chr11:46727139 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.1392C>G (p.Ala464=) single nucleotide variant not provided [RCV000883332] Chr11:46705092 [GRCh38]
Chr11:46726642 [GRCh37]
Chr11:11p11.2		 likely benign
NM_024741.3(ZNF408):c.84A>G (p.Gly28=) single nucleotide variant not provided [RCV000892878] Chr11:46701430 [GRCh38]
Chr11:46722980 [GRCh37]
Chr11:11p11.2		 likely benign
NM_024741.3(ZNF408):c.837G>A (p.Ser279=) single nucleotide variant not provided [RCV000923585] Chr11:46704537 [GRCh38]
Chr11:46726087 [GRCh37]
Chr11:11p11.2		 likely benign
NM_024741.3(ZNF408):c.1242C>T (p.Cys414=) single nucleotide variant not provided [RCV000900209] Chr11:46704942 [GRCh38]
Chr11:46726492 [GRCh37]
Chr11:11p11.2		 likely benign
NM_024741.3(ZNF408):c.797C>T (p.Pro266Leu) single nucleotide variant not provided [RCV001063877] Chr11:46704497 [GRCh38]
Chr11:46726047 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.896C>T (p.Thr299Ile) single nucleotide variant not provided [RCV001061972] Chr11:46704596 [GRCh38]
Chr11:46726146 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.1307C>T (p.Pro436Leu) single nucleotide variant not provided [RCV001043574] Chr11:46705007 [GRCh38]
Chr11:46726557 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.26T>C (p.Leu9Ser) single nucleotide variant not provided [RCV001049628] Chr11:46701073 [GRCh38]
Chr11:46722623 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.199C>G (p.Leu67Val) single nucleotide variant not provided [RCV000969067] Chr11:46701545 [GRCh38]
Chr11:46723095 [GRCh37]
Chr11:11p11.2		 benign
NM_024741.3(ZNF408):c.33G>A (p.Gly11=) single nucleotide variant not provided [RCV000909476] Chr11:46701080 [GRCh38]
Chr11:46722630 [GRCh37]
Chr11:11p11.2		 likely benign
NM_024741.3(ZNF408):c.1170T>C (p.Tyr390=) single nucleotide variant not provided [RCV000976784] Chr11:46704870 [GRCh38]
Chr11:46726420 [GRCh37]
Chr11:11p11.2		 likely benign
NM_024741.3(ZNF408):c.1010G>C (p.Arg337Pro) single nucleotide variant not provided [RCV000959911] Chr11:46704710 [GRCh38]
Chr11:46726260 [GRCh37]
Chr11:11p11.2		 benign
NM_024741.3(ZNF408):c.1031G>A (p.Gly344Glu) single nucleotide variant not provided [RCV000994610] Chr11:46704731 [GRCh38]
Chr11:46726281 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.1708G>A (p.Glu570Lys) single nucleotide variant not provided [RCV002535723]|not specified [RCV000785158] Chr11:46705408 [GRCh38]
Chr11:46726958 [GRCh37]
Chr11:11p11.2		 uncertain significance
GRCh37/hg19 11p11.2(chr11:46302171-46783079)x3 copy number gain not provided [RCV000846414] Chr11:46302171..46783079 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.1619G>A (p.Arg540Gln) single nucleotide variant not provided [RCV000994611] Chr11:46705319 [GRCh38]
Chr11:46726869 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.1888C>T (p.Arg630Trp) single nucleotide variant Inborn genetic diseases [RCV003283930]|not provided [RCV001059080] Chr11:46705588 [GRCh38]
Chr11:46727138 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.1114G>A (p.Ala372Thr) single nucleotide variant not provided [RCV001053827] Chr11:46704814 [GRCh38]
Chr11:46726364 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.276A>G (p.Glu92=) single nucleotide variant not provided [RCV000980813] Chr11:46701622 [GRCh38]
Chr11:46723172 [GRCh37]
Chr11:11p11.2		 likely benign
NM_024741.3(ZNF408):c.1755C>T (p.Gly585=) single nucleotide variant not provided [RCV000958389] Chr11:46705455 [GRCh38]
Chr11:46727005 [GRCh37]
Chr11:11p11.2		 benign
NM_024741.3(ZNF408):c.1928C>T (p.Ala643Val) single nucleotide variant Exudative vitreoretinopathy 6 [RCV002504312]|not provided [RCV001231479] Chr11:46705628 [GRCh38]
Chr11:46727178 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.1699C>T (p.Arg567Ter) single nucleotide variant not provided [RCV001007996] Chr11:46705399 [GRCh38]
Chr11:46726949 [GRCh37]
Chr11:11p11.2		 likely pathogenic|conflicting interpretations of pathogenicity
NM_024741.3(ZNF408):c.892G>A (p.Gly298Ser) single nucleotide variant Retinal dystrophy [RCV003887930]|not provided [RCV001231354] Chr11:46704592 [GRCh38]
Chr11:46726142 [GRCh37]
Chr11:11p11.2		 likely benign|uncertain significance
NM_024741.3(ZNF408):c.1696C>A (p.Leu566Ile) single nucleotide variant not provided [RCV001203025] Chr11:46705396 [GRCh38]
Chr11:46726946 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.948C>G (p.Cys316Trp) single nucleotide variant not provided [RCV004812709] Chr11:46704648 [GRCh38]
Chr11:46726198 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.443G>A (p.Arg148Gln) single nucleotide variant not provided [RCV001226284] Chr11:46703034 [GRCh38]
Chr11:46724584 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.2008_2010del (p.Ala670del) deletion not provided [RCV001202893] Chr11:46705706..46705708 [GRCh38]
Chr11:46727256..46727258 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.223G>C (p.Val75Leu) single nucleotide variant not provided [RCV001240202] Chr11:46701569 [GRCh38]
Chr11:46723119 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.1712G>A (p.Arg571His) single nucleotide variant not provided [RCV001203026] Chr11:46705412 [GRCh38]
Chr11:46726962 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.362G>A (p.Cys121Tyr) single nucleotide variant not provided [RCV001240590] Chr11:46702735 [GRCh38]
Chr11:46724285 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.1342C>T (p.Arg448Cys) single nucleotide variant not provided [RCV001209307] Chr11:46705042 [GRCh38]
Chr11:46726592 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.1546C>T (p.Arg516Trp) single nucleotide variant Retinal dystrophy [RCV004813981]|not provided [RCV001240837] Chr11:46705246 [GRCh38]
Chr11:46726796 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.127G>A (p.Val43Ile) single nucleotide variant Inborn genetic diseases [RCV002561128]|not provided [RCV001203454] Chr11:46701473 [GRCh38]
Chr11:46723023 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.1132C>T (p.His378Tyr) single nucleotide variant not provided [RCV001237567] Chr11:46704832 [GRCh38]
Chr11:46726382 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.1211G>A (p.Arg404His) single nucleotide variant not provided [RCV001240907] Chr11:46704911 [GRCh38]
Chr11:46726461 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.1567C>T (p.Pro523Ser) single nucleotide variant not provided [RCV001241417] Chr11:46705267 [GRCh38]
Chr11:46726817 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.500T>C (p.Leu167Pro) single nucleotide variant not provided [RCV001225945] Chr11:46703091 [GRCh38]
Chr11:46724641 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.51C>T (p.Leu17=) single nucleotide variant not provided [RCV001241169] Chr11:46701098 [GRCh38]
Chr11:46722648 [GRCh37]
Chr11:11p11.2		 likely benign|uncertain significance
NM_024741.3(ZNF408):c.2137G>A (p.Val713Met) single nucleotide variant Retinal dystrophy [RCV004813869]|not provided [RCV001207809] Chr11:46705837 [GRCh38]
Chr11:46727387 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.943C>T (p.Gln315Ter) single nucleotide variant Exudative vitreoretinopathy 6 [RCV001197448] Chr11:46704643 [GRCh38]
Chr11:46726193 [GRCh37]
Chr11:11p11.2		 likely pathogenic
NM_024741.3(ZNF408):c.1786C>T (p.Arg596Cys) single nucleotide variant Inborn genetic diseases [RCV004686637]|not provided [RCV001201903] Chr11:46705486 [GRCh38]
Chr11:46727036 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.2119C>T (p.Leu707Phe) single nucleotide variant not provided [RCV001053135] Chr11:46705819 [GRCh38]
Chr11:46727369 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.814C>T (p.Pro272Ser) single nucleotide variant Inborn genetic diseases [RCV004034907]|not provided [RCV001247877] Chr11:46704514 [GRCh38]
Chr11:46726064 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.52+36G>C single nucleotide variant not provided [RCV001573662]|not specified [RCV001699590] Chr11:46701135 [GRCh38]
Chr11:46722685 [GRCh37]
Chr11:11p11.2		 benign|likely benign
NM_024741.3(ZNF408):c.52+82T>C single nucleotide variant not provided [RCV001687259] Chr11:46701181 [GRCh38]
Chr11:46722731 [GRCh37]
Chr11:11p11.2		 benign
NM_024741.3(ZNF408):c.689A>G (p.Glu230Gly) single nucleotide variant ZNF408-related disorder [RCV003962921]|not provided [RCV000974525] Chr11:46704389 [GRCh38]
Chr11:46725939 [GRCh37]
Chr11:11p11.2		 likely benign
NM_024741.3(ZNF408):c.1971A>G (p.Gln657=) single nucleotide variant ZNF408-related disorder [RCV004758747]|not provided [RCV000895150] Chr11:46705671 [GRCh38]
Chr11:46727221 [GRCh37]
Chr11:11p11.2		 benign
NM_024741.3(ZNF408):c.1002A>C (p.Thr334=) single nucleotide variant not provided [RCV000886182] Chr11:46704702 [GRCh38]
Chr11:46726252 [GRCh37]
Chr11:11p11.2		 likely benign
NM_024741.3(ZNF408):c.1497G>A (p.Pro499=) single nucleotide variant not provided [RCV000885743]|not specified [RCV001700495] Chr11:46705197 [GRCh38]
Chr11:46726747 [GRCh37]
Chr11:11p11.2		 benign|likely benign
NM_024741.3(ZNF408):c.903G>T (p.Pro301=) single nucleotide variant not provided [RCV000972822]|not specified [RCV001701391] Chr11:46704603 [GRCh38]
Chr11:46726153 [GRCh37]
Chr11:11p11.2		 benign
NM_024741.3(ZNF408):c.1407A>G (p.Pro469=) single nucleotide variant not provided [RCV000939625] Chr11:46705107 [GRCh38]
Chr11:46726657 [GRCh37]
Chr11:11p11.2		 likely benign
NM_024741.3(ZNF408):c.1716G>A (p.Leu572=) single nucleotide variant not provided [RCV000930032] Chr11:46705416 [GRCh38]
Chr11:46726966 [GRCh37]
Chr11:11p11.2		 likely benign
NM_024741.3(ZNF408):c.2058T>G (p.Phe686Leu) single nucleotide variant Inborn genetic diseases [RCV002568583]|not provided [RCV001244278] Chr11:46705758 [GRCh38]
Chr11:46727308 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.1285G>A (p.Val429Met) single nucleotide variant not provided [RCV001247598] Chr11:46704985 [GRCh38]
Chr11:46726535 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.44T>A (p.Leu15Gln) single nucleotide variant not provided [RCV001230264] Chr11:46701091 [GRCh38]
Chr11:46722641 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.2008G>A (p.Ala670Thr) single nucleotide variant Inborn genetic diseases [RCV002563000]|not provided [RCV001219849] Chr11:46705708 [GRCh38]
Chr11:46727258 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.1438C>A (p.Gln480Lys) single nucleotide variant not provided [RCV001227451] Chr11:46705138 [GRCh38]
Chr11:46726688 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.30G>C (p.Glu10Asp) single nucleotide variant not provided [RCV001243616] Chr11:46701077 [GRCh38]
Chr11:46722627 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.527A>T (p.Glu176Val) single nucleotide variant not provided [RCV001237329] Chr11:46703118 [GRCh38]
Chr11:46724668 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.2113A>G (p.Met705Val) single nucleotide variant not provided [RCV001057059] Chr11:46705813 [GRCh38]
Chr11:46727363 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.333C>G (p.Asn111Lys) single nucleotide variant not provided [RCV001238416] Chr11:46702706 [GRCh38]
Chr11:46724256 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.1644G>A (p.Gly548=) single nucleotide variant not provided [RCV000889208] Chr11:46705344 [GRCh38]
Chr11:46726894 [GRCh37]
Chr11:11p11.2		 benign
NM_024741.3(ZNF408):c.2083G>A (p.Ala695Thr) single nucleotide variant not provided [RCV000889347] Chr11:46705783 [GRCh38]
Chr11:46727333 [GRCh37]
Chr11:11p11.2		 likely benign
NM_024741.3(ZNF408):c.1767G>A (p.Thr589=) single nucleotide variant not provided [RCV000912706] Chr11:46705467 [GRCh38]
Chr11:46727017 [GRCh37]
Chr11:11p11.2		 likely benign
NM_024741.3(ZNF408):c.1751G>T (p.Cys584Phe) single nucleotide variant Retinal dystrophy [RCV004814101] Chr11:46705451 [GRCh38]
Chr11:46727001 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.1461G>A (p.Met487Ile) single nucleotide variant Optic atrophy [RCV004817574] Chr11:46705161 [GRCh38]
Chr11:46726711 [GRCh37]
Chr11:11p11.2		 uncertain significance
NC_000011.10:g.46700926C>T single nucleotide variant not provided [RCV001676292] Chr11:46700926 [GRCh38]
Chr11:46722476 [GRCh37]
Chr11:11p11.2		 benign
NM_024741.3(ZNF408):c.1697T>A (p.Leu566His) single nucleotide variant Familial exudative vitreoretinopathy [RCV001003294] Chr11:46705397 [GRCh38]
Chr11:46726947 [GRCh37]
Chr11:11p11.2		 pathogenic
NM_024741.3(ZNF408):c.457C>T (p.Leu153Phe) single nucleotide variant Exudative vitreoretinopathy 6 [RCV002489701]|Retinal dystrophy [RCV004813700]|not provided [RCV001067962] Chr11:46703048 [GRCh38]
Chr11:46724598 [GRCh37]
Chr11:11p11.2		 uncertain significance
NC_000011.10:g.46700939G>A single nucleotide variant not provided [RCV001534262] Chr11:46700939 [GRCh38]
Chr11:46722489 [GRCh37]
Chr11:11p11.2		 benign
NM_024741.3(ZNF408):c.206A>G (p.Lys69Arg) single nucleotide variant not provided [RCV001201497] Chr11:46701552 [GRCh38]
Chr11:46723102 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.1534C>T (p.Arg512Cys) single nucleotide variant not provided [RCV001040090] Chr11:46705234 [GRCh38]
Chr11:46726784 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.827A>G (p.Gln276Arg) single nucleotide variant not provided [RCV001203840] Chr11:46704527 [GRCh38]
Chr11:46726077 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.1334C>T (p.Ala445Val) single nucleotide variant not provided [RCV001049082] Chr11:46705034 [GRCh38]
Chr11:46726584 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.1345C>T (p.Arg449Trp) single nucleotide variant not provided [RCV001233759] Chr11:46705045 [GRCh38]
Chr11:46726595 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.1723G>A (p.Gly575Arg) single nucleotide variant Inborn genetic diseases [RCV004033223]|not provided [RCV001234006] Chr11:46705423 [GRCh38]
Chr11:46726973 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.925T>G (p.Leu309Val) single nucleotide variant Exudative vitreoretinopathy 6 [RCV001535592]|Inborn genetic diseases [RCV004963264]|not provided [RCV001236111] Chr11:46704625 [GRCh38]
Chr11:46726175 [GRCh37]
Chr11:11p11.2		 uncertain significance|not provided
NM_024741.3(ZNF408):c.52G>A (p.Ala18Thr) single nucleotide variant not provided [RCV001234677] Chr11:46701099 [GRCh38]
Chr11:46722649 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.601G>A (p.Val201Ile) single nucleotide variant not provided [RCV001208176] Chr11:46703192 [GRCh38]
Chr11:46724742 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.1547G>A (p.Arg516Gln) single nucleotide variant not provided [RCV001046774] Chr11:46705247 [GRCh38]
Chr11:46726797 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.1059C>G (p.Tyr353Ter) single nucleotide variant not provided [RCV001046777] Chr11:46704759 [GRCh38]
Chr11:46726309 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.20T>C (p.Leu7Pro) single nucleotide variant Inborn genetic diseases [RCV004963002]|not provided [RCV001035833] Chr11:46701067 [GRCh38]
Chr11:46722617 [GRCh37]
Chr11:11p11.2		 likely benign|uncertain significance
NM_024741.3(ZNF408):c.116G>A (p.Gly39Asp) single nucleotide variant not provided [RCV001212564] Chr11:46701462 [GRCh38]
Chr11:46723012 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.743A>G (p.Asp248Gly) single nucleotide variant Inborn genetic diseases [RCV002553041]|not provided [RCV001038186] Chr11:46704443 [GRCh38]
Chr11:46725993 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.1367G>A (p.Arg456His) single nucleotide variant not provided [RCV001204360] Chr11:46705067 [GRCh38]
Chr11:46726617 [GRCh37]
Chr11:11p11.2		 uncertain significance
NC_000011.10:g.(?_46366257)_(46744577_?)dup duplication not provided [RCV001032651] Chr11:46387807..46766127 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.1694C>T (p.Thr565Met) single nucleotide variant not provided [RCV001349314] Chr11:46705394 [GRCh38]
Chr11:46726944 [GRCh37]
Chr11:11p11.2		 uncertain significance
GRCh37/hg19 11p11.2(chr11:46418839-46753136)x3 copy number gain not provided [RCV001259094] Chr11:46418839..46753136 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.111del (p.Gln38fs) deletion not provided [RCV001531093] Chr11:46701457 [GRCh38]
Chr11:46723007 [GRCh37]
Chr11:11p11.2		 likely pathogenic
NM_024741.3(ZNF408):c.653-1G>T single nucleotide variant Autosomal recessive retinitis pigmentosa [RCV001257833] Chr11:46704352 [GRCh38]
Chr11:46725902 [GRCh37]
Chr11:11p11.2		 pathogenic
NM_024741.3(ZNF408):c.260T>C (p.Leu87Pro) single nucleotide variant not provided [RCV001908021] Chr11:46701606 [GRCh38]
Chr11:46723156 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.1784G>A (p.Arg595Gln) single nucleotide variant not provided [RCV001319941] Chr11:46705484 [GRCh38]
Chr11:46727034 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.1783C>T (p.Arg595Trp) single nucleotide variant not provided [RCV001307397] Chr11:46705483 [GRCh38]
Chr11:46727033 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.115G>T (p.Gly39Cys) single nucleotide variant not provided [RCV001298417] Chr11:46701461 [GRCh38]
Chr11:46723011 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.2033T>C (p.Ile678Thr) single nucleotide variant not provided [RCV001320509] Chr11:46705733 [GRCh38]
Chr11:46727283 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.886G>A (p.Ala296Thr) single nucleotide variant not provided [RCV001298542] Chr11:46704586 [GRCh38]
Chr11:46726136 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.1052G>A (p.Arg351Gln) single nucleotide variant not provided [RCV001320799] Chr11:46704752 [GRCh38]
Chr11:46726302 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.1065T>A (p.Cys355Ter) single nucleotide variant not provided [RCV001325649] Chr11:46704765 [GRCh38]
Chr11:46726315 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.577GTG[1] (p.Val194del) microsatellite ZNF408-related disorder [RCV004758788]|not provided [RCV001316748] Chr11:46703168..46703170 [GRCh38]
Chr11:46724718..46724720 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.1670G>T (p.Gly557Val) single nucleotide variant Inborn genetic diseases [RCV004034170]|not provided [RCV001308471] Chr11:46705370 [GRCh38]
Chr11:46726920 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.403C>T (p.Arg135Trp) single nucleotide variant Inborn genetic diseases [RCV004967977]|not provided [RCV001301611] Chr11:46702994 [GRCh38]
Chr11:46724544 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.1483C>T (p.Pro495Ser) single nucleotide variant Inborn genetic diseases [RCV003246855]|not provided [RCV001303685] Chr11:46705183 [GRCh38]
Chr11:46726733 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.1986_1987del (p.His662fs) microsatellite not provided [RCV001321560] Chr11:46705679..46705680 [GRCh38]
Chr11:46727229..46727230 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.2012G>C (p.Arg671Thr) single nucleotide variant not provided [RCV001320741] Chr11:46705712 [GRCh38]
Chr11:46727262 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.1693A>G (p.Thr565Ala) single nucleotide variant not provided [RCV001294925] Chr11:46705393 [GRCh38]
Chr11:46726943 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.1558G>A (p.Gly520Arg) single nucleotide variant not provided [RCV001341177] Chr11:46705258 [GRCh38]
Chr11:46726808 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.334C>T (p.Leu112=) single nucleotide variant not provided [RCV001432979] Chr11:46702707 [GRCh38]
Chr11:46724257 [GRCh37]
Chr11:11p11.2		 likely benign
NM_024741.3(ZNF408):c.292A>T (p.Lys98Ter) single nucleotide variant not provided [RCV001295305] Chr11:46701638 [GRCh38]
Chr11:46723188 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.731G>A (p.Arg244Gln) single nucleotide variant not provided [RCV001317271] Chr11:46704431 [GRCh38]
Chr11:46725981 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.2086C>G (p.Pro696Ala) single nucleotide variant not provided [RCV001363173] Chr11:46705786 [GRCh38]
Chr11:46727336 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.1857G>A (p.Pro619=) single nucleotide variant not provided [RCV001433063] Chr11:46705557 [GRCh38]
Chr11:46727107 [GRCh37]
Chr11:11p11.2		 likely benign
NM_024741.3(ZNF408):c.1501T>C (p.Cys501Arg) single nucleotide variant not provided [RCV001324988] Chr11:46705201 [GRCh38]
Chr11:46726751 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.1304G>A (p.Arg435Gln) single nucleotide variant Retinal dystrophy [RCV003888063]|not provided [RCV001363385] Chr11:46705004 [GRCh38]
Chr11:46726554 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.994T>G (p.Phe332Val) single nucleotide variant not provided [RCV001314463] Chr11:46704694 [GRCh38]
Chr11:46726244 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.1127C>T (p.Thr376Met) single nucleotide variant not provided [RCV001368307] Chr11:46704827 [GRCh38]
Chr11:46726377 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.1381G>C (p.Val461Leu) single nucleotide variant not provided [RCV001314720] Chr11:46705081 [GRCh38]
Chr11:46726631 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.996C>G (p.Phe332Leu) single nucleotide variant not provided [RCV001369915] Chr11:46704696 [GRCh38]
Chr11:46726246 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.786T>G (p.Asp262Glu) single nucleotide variant not provided [RCV001370942] Chr11:46704486 [GRCh38]
Chr11:46726036 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.109dup (p.Thr37fs) duplication not provided [RCV001371384] Chr11:46701454..46701455 [GRCh38]
Chr11:46723004..46723005 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.1726G>A (p.Glu576Lys) single nucleotide variant not provided [RCV001364621] Chr11:46705426 [GRCh38]
Chr11:46726976 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.2124C>T (p.Gly708=) single nucleotide variant ZNF408-related disorder [RCV003953680]|not provided [RCV001351837] Chr11:46705824 [GRCh38]
Chr11:46727374 [GRCh37]
Chr11:11p11.2		 likely benign|uncertain significance
NM_024741.3(ZNF408):c.131C>T (p.Pro44Leu) single nucleotide variant Inborn genetic diseases [RCV003166750]|ZNF408-related disorder [RCV003963206]|not provided [RCV001307386] Chr11:46701477 [GRCh38]
Chr11:46723027 [GRCh37]
Chr11:11p11.2		 likely benign|uncertain significance
NM_024741.3(ZNF408):c.1535G>A (p.Arg512His) single nucleotide variant not provided [RCV001338598] Chr11:46705235 [GRCh38]
Chr11:46726785 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.1661C>T (p.Pro554Leu) single nucleotide variant not provided [RCV001327328] Chr11:46705361 [GRCh38]
Chr11:46726911 [GRCh37]
Chr11:11p11.2		 uncertain significance
NC_000011.9:g.(?_46569796)_(46742390_?)dup duplication not provided [RCV001346673] Chr11:46569796..46742390 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.36G>C (p.Lys12Asn) single nucleotide variant not provided [RCV001306771] Chr11:46701083 [GRCh38]
Chr11:46722633 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.2125G>A (p.Ala709Thr) single nucleotide variant not provided [RCV001345987] Chr11:46705825 [GRCh38]
Chr11:46727375 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.4G>A (p.Glu2Lys) single nucleotide variant not provided [RCV001365224] Chr11:46701051 [GRCh38]
Chr11:46722601 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.781G>A (p.Val261Met) single nucleotide variant not provided [RCV001300554] Chr11:46704481 [GRCh38]
Chr11:46726031 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.2154G>A (p.Met718Ile) single nucleotide variant not provided [RCV001369159] Chr11:46705854 [GRCh38]
Chr11:46727404 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.1198A>G (p.Met400Val) single nucleotide variant not provided [RCV001342670] Chr11:46704898 [GRCh38]
Chr11:46726448 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.1622G>A (p.Arg541His) single nucleotide variant not provided [RCV001361665] Chr11:46705322 [GRCh38]
Chr11:46726872 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.1264C>T (p.Arg422Ter) single nucleotide variant not provided [RCV001327773] Chr11:46704964 [GRCh38]
Chr11:46726514 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.1907G>A (p.Ser636Asn) single nucleotide variant not provided [RCV001339083] Chr11:46705607 [GRCh38]
Chr11:46727157 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.264G>T (p.Trp88Cys) single nucleotide variant not provided [RCV001302284] Chr11:46701610 [GRCh38]
Chr11:46723160 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.1007C>T (p.Ser336Leu) single nucleotide variant not provided [RCV001304364] Chr11:46704707 [GRCh38]
Chr11:46726257 [GRCh37]
Chr11:11p11.2		 uncertain significance
NC_000011.9:g.(?_45827353)_(47804770_?)dup duplication Leukocyte adhesion deficiency type II [RCV001296459] Chr11:45827353..47804770 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.1021G>A (p.Gly341Ser) single nucleotide variant not provided [RCV001372990] Chr11:46704721 [GRCh38]
Chr11:46726271 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.1711C>T (p.Arg571Cys) single nucleotide variant not provided [RCV001363683] Chr11:46705411 [GRCh38]
Chr11:46726961 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.163_166dup (p.Ser56fs) duplication not provided [RCV001358980] Chr11:46701507..46701508 [GRCh38]
Chr11:46723057..46723058 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.1008G>A (p.Ser336=) single nucleotide variant not provided [RCV001395999] Chr11:46704708 [GRCh38]
Chr11:46726258 [GRCh37]
Chr11:11p11.2		 likely benign
NM_024741.3(ZNF408):c.1424G>A (p.Arg475Gln) single nucleotide variant Retinal dystrophy [RCV004815476]|not provided [RCV001368147] Chr11:46705124 [GRCh38]
Chr11:46726674 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.1349C>T (p.Pro450Leu) single nucleotide variant not provided [RCV001351306] Chr11:46705049 [GRCh38]
Chr11:46726599 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.392+1G>A single nucleotide variant not provided [RCV001370002] Chr11:46702766 [GRCh38]
Chr11:46724316 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.1210C>T (p.Arg404Cys) single nucleotide variant Inborn genetic diseases [RCV002547377]|not provided [RCV001338358] Chr11:46704910 [GRCh38]
Chr11:46726460 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.450C>T (p.Ser150=) single nucleotide variant not provided [RCV001421361] Chr11:46703041 [GRCh38]
Chr11:46724591 [GRCh37]
Chr11:11p11.2		 likely benign
NM_024741.3(ZNF408):c.1889G>A (p.Arg630Gln) single nucleotide variant Inborn genetic diseases [RCV002545607]|not provided [RCV001349280] Chr11:46705589 [GRCh38]
Chr11:46727139 [GRCh37]
Chr11:11p11.2		 likely benign|uncertain significance
NM_024741.3(ZNF408):c.581T>G (p.Val194Gly) single nucleotide variant not provided [RCV001339450] Chr11:46703172 [GRCh38]
Chr11:46724722 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.449G>A (p.Ser150Asn) single nucleotide variant not provided [RCV001306774] Chr11:46703040 [GRCh38]
Chr11:46724590 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.1856C>T (p.Pro619Leu) single nucleotide variant not provided [RCV001339803] Chr11:46705556 [GRCh38]
Chr11:46727106 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.1695G>A (p.Thr565=) single nucleotide variant not provided [RCV001457991] Chr11:46705395 [GRCh38]
Chr11:46726945 [GRCh37]
Chr11:11p11.2		 likely benign
NM_024741.3(ZNF408):c.1623C>A (p.Arg541=) single nucleotide variant not provided [RCV001402258] Chr11:46705323 [GRCh38]
Chr11:46726873 [GRCh37]
Chr11:11p11.2		 likely benign
NM_024741.3(ZNF408):c.1599C>T (p.Phe533=) single nucleotide variant not provided [RCV001468600] Chr11:46705299 [GRCh38]
Chr11:46726849 [GRCh37]
Chr11:11p11.2		 likely benign
NM_024741.3(ZNF408):c.1335C>G (p.Ala445=) single nucleotide variant not provided [RCV001464668] Chr11:46705035 [GRCh38]
Chr11:46726585 [GRCh37]
Chr11:11p11.2		 likely benign
NM_024741.3(ZNF408):c.1290A>G (p.Val430=) single nucleotide variant not provided [RCV001473564] Chr11:46704990 [GRCh38]
Chr11:46726540 [GRCh37]
Chr11:11p11.2		 likely benign
NM_024741.3(ZNF408):c.1845C>T (p.Gly615=) single nucleotide variant not provided [RCV001491193] Chr11:46705545 [GRCh38]
Chr11:46727095 [GRCh37]
Chr11:11p11.2		 likely benign
NM_024741.3(ZNF408):c.1071G>A (p.Glu357=) single nucleotide variant not provided [RCV001503530] Chr11:46704771 [GRCh38]
Chr11:46726321 [GRCh37]
Chr11:11p11.2		 likely benign
NM_024741.3(ZNF408):c.1920G>T (p.Val640=) single nucleotide variant not provided [RCV001479776] Chr11:46705620 [GRCh38]
Chr11:46727170 [GRCh37]
Chr11:11p11.2		 likely benign
NM_024741.3(ZNF408):c.879A>G (p.Ser293=) single nucleotide variant not provided [RCV001465206] Chr11:46704579 [GRCh38]
Chr11:46726129 [GRCh37]
Chr11:11p11.2		 likely benign
NM_024741.3(ZNF408):c.213G>A (p.Gln71=) single nucleotide variant not provided [RCV001488956] Chr11:46701559 [GRCh38]
Chr11:46723109 [GRCh37]
Chr11:11p11.2		 likely benign
NM_024741.3(ZNF408):c.240C>T (p.Asp80=) single nucleotide variant not provided [RCV001455084] Chr11:46701586 [GRCh38]
Chr11:46723136 [GRCh37]
Chr11:11p11.2		 likely benign
NM_024741.3(ZNF408):c.2097G>A (p.Val699=) single nucleotide variant not provided [RCV001475788] Chr11:46705797 [GRCh38]
Chr11:46727347 [GRCh37]
Chr11:11p11.2		 likely benign
NM_024741.3(ZNF408):c.591G>A (p.Val197=) single nucleotide variant not provided [RCV001489482] Chr11:46703182 [GRCh38]
Chr11:46724732 [GRCh37]
Chr11:11p11.2		 likely benign
NM_024741.3(ZNF408):c.564G>A (p.Glu188=) single nucleotide variant ZNF408-related disorder [RCV003956099]|not provided [RCV001498421] Chr11:46703155 [GRCh38]
Chr11:46724705 [GRCh37]
Chr11:11p11.2		 likely benign
NM_024741.3(ZNF408):c.53-11TC[2] microsatellite not provided [RCV001488263] Chr11:46701388..46701389 [GRCh38]
Chr11:46722938..46722939 [GRCh37]
Chr11:11p11.2		 likely benign
NM_024741.3(ZNF408):c.1362G>T (p.Leu454=) single nucleotide variant ZNF408-related disorder [RCV003938829]|not provided [RCV001463724] Chr11:46705062 [GRCh38]
Chr11:46726612 [GRCh37]
Chr11:11p11.2		 likely benign
NM_024741.3(ZNF408):c.502C>T (p.Leu168=) single nucleotide variant not provided [RCV001467562] Chr11:46703093 [GRCh38]
Chr11:46724643 [GRCh37]
Chr11:11p11.2		 likely benign
NM_024741.3(ZNF408):c.1605G>A (p.Gln535=) single nucleotide variant not provided [RCV001444238] Chr11:46705305 [GRCh38]
Chr11:46726855 [GRCh37]
Chr11:11p11.2		 likely benign
NM_024741.3(ZNF408):c.1557C>T (p.Thr519=) single nucleotide variant Retinal dystrophy [RCV003888113]|not provided [RCV001408268] Chr11:46705257 [GRCh38]
Chr11:46726807 [GRCh37]
Chr11:11p11.2		 likely benign
NM_024741.3(ZNF408):c.1278G>A (p.Glu426=) single nucleotide variant not provided [RCV001445145] Chr11:46704978 [GRCh38]
Chr11:46726528 [GRCh37]
Chr11:11p11.2		 likely benign
NM_024741.3(ZNF408):c.35A>G (p.Lys12Arg) single nucleotide variant ZNF408-related disorder [RCV004758799]|not provided [RCV001445294] Chr11:46701082 [GRCh38]
Chr11:46722632 [GRCh37]
Chr11:11p11.2		 likely benign
NM_024741.3(ZNF408):c.1707C>T (p.His569=) single nucleotide variant not provided [RCV001440799] Chr11:46705407 [GRCh38]
Chr11:46726957 [GRCh37]
Chr11:11p11.2		 likely benign
NM_024741.3(ZNF408):c.1257C>A (p.Gly419=) single nucleotide variant not provided [RCV001445913] Chr11:46704957 [GRCh38]
Chr11:46726507 [GRCh37]
Chr11:11p11.2		 likely benign
NM_024741.3(ZNF408):c.285T>G (p.Ser95=) single nucleotide variant not provided [RCV001479111] Chr11:46701631 [GRCh38]
Chr11:46723181 [GRCh37]
Chr11:11p11.2		 likely benign
NM_024741.3(ZNF408):c.1101C>T (p.His367=) single nucleotide variant not provided [RCV001490820] Chr11:46704801 [GRCh38]
Chr11:46726351 [GRCh37]
Chr11:11p11.2		 likely benign
NM_024741.3(ZNF408):c.1245C>T (p.Asp415=) single nucleotide variant not provided [RCV001470343] Chr11:46704945 [GRCh38]
Chr11:46726495 [GRCh37]
Chr11:11p11.2		 likely benign
NM_024741.3(ZNF408):c.633T>C (p.Asp211=) single nucleotide variant not provided [RCV001460880] Chr11:46703224 [GRCh38]
Chr11:46724774 [GRCh37]
Chr11:11p11.2		 likely benign
NM_024741.3(ZNF408):c.2019T>G (p.Val673=) single nucleotide variant not provided [RCV001504780]|not specified [RCV001700761] Chr11:46705719 [GRCh38]
Chr11:46727269 [GRCh37]
Chr11:11p11.2		 benign|likely benign
NM_024741.3(ZNF408):c.1890G>A (p.Arg630=) single nucleotide variant not provided [RCV001513194] Chr11:46705590 [GRCh38]
Chr11:46727140 [GRCh37]
Chr11:11p11.2		 benign
NM_024741.3(ZNF408):c.1893T>C (p.Pro631=) single nucleotide variant not provided [RCV001470836] Chr11:46705593 [GRCh38]
Chr11:46727143 [GRCh37]
Chr11:11p11.2		 likely benign
NM_024741.3(ZNF408):c.1992G>A (p.Glu664=) single nucleotide variant Retinal dystrophy [RCV003888110]|not provided [RCV001406177] Chr11:46705692 [GRCh38]
Chr11:46727242 [GRCh37]
Chr11:11p11.2		 likely benign
NM_024741.3(ZNF408):c.653-16C>A single nucleotide variant not provided [RCV001462928] Chr11:46704337 [GRCh38]
Chr11:46725887 [GRCh37]
Chr11:11p11.2		 likely benign
NM_024741.3(ZNF408):c.2007C>T (p.Pro669=) single nucleotide variant not provided [RCV001425473] Chr11:46705707 [GRCh38]
Chr11:46727257 [GRCh37]
Chr11:11p11.2		 likely benign
NM_024741.3(ZNF408):c.653-18C>T single nucleotide variant not provided [RCV001513348] Chr11:46704335 [GRCh38]
Chr11:46725885 [GRCh37]
Chr11:11p11.2		 benign
NM_024741.3(ZNF408):c.174C>T (p.Pro58=) single nucleotide variant not provided [RCV001435198] Chr11:46701520 [GRCh38]
Chr11:46723070 [GRCh37]
Chr11:11p11.2		 likely benign
NM_024741.3(ZNF408):c.389C>T (p.Thr130Ile) single nucleotide variant Inborn genetic diseases [RCV003163876]|not provided [RCV001761060] Chr11:46702762 [GRCh38]
Chr11:46724312 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.1378del (p.Gln460fs) deletion Retinal dystrophy [RCV004817706] Chr11:46705077 [GRCh38]
Chr11:46726627 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.1996del (p.Glu666fs) deletion Retinal dystrophy [RCV004818715] Chr11:46705695 [GRCh38]
Chr11:46727245 [GRCh37]
Chr11:11p11.2		 likely pathogenic
NM_024741.3(ZNF408):c.235G>A (p.Gly79Arg) single nucleotide variant not provided [RCV001988444] Chr11:46701581 [GRCh38]
Chr11:46723131 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.1086C>G (p.Phe362Leu) single nucleotide variant not provided [RCV002040187] Chr11:46704786 [GRCh38]
Chr11:46726336 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.1823G>A (p.Arg608His) single nucleotide variant not provided [RCV001968605] Chr11:46705523 [GRCh38]
Chr11:46727073 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.2152A>G (p.Met718Val) single nucleotide variant not provided [RCV002045739] Chr11:46705852 [GRCh38]
Chr11:46727402 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.133C>A (p.Pro45Thr) single nucleotide variant not provided [RCV001946285] Chr11:46701479 [GRCh38]
Chr11:46723029 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.880TCT[1] (p.Ser295del) microsatellite not provided [RCV001950584] Chr11:46704580..46704582 [GRCh38]
Chr11:46726130..46726132 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.338C>T (p.Ser113Leu) single nucleotide variant not provided [RCV001985033] Chr11:46702711 [GRCh38]
Chr11:46724261 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.931A>G (p.Ser311Gly) single nucleotide variant not provided [RCV002025255] Chr11:46704631 [GRCh38]
Chr11:46726181 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.1724G>C (p.Gly575Ala) single nucleotide variant not provided [RCV001874184] Chr11:46705424 [GRCh38]
Chr11:46726974 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.1445C>T (p.Ser482Phe) single nucleotide variant not provided [RCV002022233] Chr11:46705145 [GRCh38]
Chr11:46726695 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.1693_1694del (p.Thr565fs) microsatellite not provided [RCV001929470] Chr11:46705388..46705389 [GRCh38]
Chr11:46726938..46726939 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.488C>A (p.Pro163Gln) single nucleotide variant not provided [RCV002043654] Chr11:46703079 [GRCh38]
Chr11:46724629 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.1565G>A (p.Arg522His) single nucleotide variant not provided [RCV002041781] Chr11:46705265 [GRCh38]
Chr11:46726815 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.358G>A (p.Val120Met) single nucleotide variant not provided [RCV001894076] Chr11:46702731 [GRCh38]
Chr11:46724281 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.1871G>A (p.Arg624Gln) single nucleotide variant not provided [RCV001964276] Chr11:46705571 [GRCh38]
Chr11:46727121 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.1174dup (p.Ser392fs) duplication Retinal dystrophy [RCV004816745]|not provided [RCV001910192] Chr11:46704873..46704874 [GRCh38]
Chr11:46726423..46726424 [GRCh37]
Chr11:11p11.2		 pathogenic|uncertain significance
GRCh37/hg19 11p12-11.2(chr11:40117145-46920718)x1 copy number loss not provided [RCV001836486] Chr11:40117145..46920718 [GRCh37]
Chr11:11p12-11.2		 pathogenic
NM_024741.3(ZNF408):c.328G>T (p.Glu110Ter) single nucleotide variant not provided [RCV001983737] Chr11:46701674 [GRCh38]
Chr11:46723224 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.2091C>A (p.Ser697Arg) single nucleotide variant not provided [RCV001927765] Chr11:46705791 [GRCh38]
Chr11:46727341 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.1261C>G (p.Gln421Glu) single nucleotide variant not provided [RCV002024042] Chr11:46704961 [GRCh38]
Chr11:46726511 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.1840A>G (p.Met614Val) single nucleotide variant not provided [RCV001983297] Chr11:46705540 [GRCh38]
Chr11:46727090 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.1370A>G (p.Lys457Arg) single nucleotide variant not provided [RCV001947866] Chr11:46705070 [GRCh38]
Chr11:46726620 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.1298G>A (p.Gly433Asp) single nucleotide variant Inborn genetic diseases [RCV004970811]|not provided [RCV002043595] Chr11:46704998 [GRCh38]
Chr11:46726548 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.5A>T (p.Glu2Val) single nucleotide variant not provided [RCV001895699] Chr11:46701052 [GRCh38]
Chr11:46722602 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.1639_1640del (p.Thr547fs) microsatellite not provided [RCV001945441] Chr11:46705334..46705335 [GRCh38]
Chr11:46726884..46726885 [GRCh37]
Chr11:11p11.2		 uncertain significance
GRCh37/hg19 11p11.2(chr11:46248477-46748132) copy number loss not specified [RCV002052926] Chr11:46248477..46748132 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.1060C>T (p.Arg354Trp) single nucleotide variant not provided [RCV002006050] Chr11:46704760 [GRCh38]
Chr11:46726310 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.1394C>T (p.Pro465Leu) single nucleotide variant not provided [RCV001872242] Chr11:46705094 [GRCh38]
Chr11:46726644 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.1128G>A (p.Thr376=) single nucleotide variant not provided [RCV001894325] Chr11:46704828 [GRCh38]
Chr11:46726378 [GRCh37]
Chr11:11p11.2		 likely benign|uncertain significance
NM_024741.3(ZNF408):c.83G>A (p.Gly28Glu) single nucleotide variant not provided [RCV002005174] Chr11:46701429 [GRCh38]
Chr11:46722979 [GRCh37]
Chr11:11p11.2		 uncertain significance
NC_000011.9:g.(?_46724983)_(46727355_?)del deletion not provided [RCV001967913] Chr11:46724983..46727355 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.303C>T (p.Gly101=) single nucleotide variant not provided [RCV002024522] Chr11:46701649 [GRCh38]
Chr11:46723199 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.358G>T (p.Val120Leu) single nucleotide variant not provided [RCV001965175] Chr11:46702731 [GRCh38]
Chr11:46724281 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.250C>A (p.Pro84Thr) single nucleotide variant not provided [RCV001911142] Chr11:46701596 [GRCh38]
Chr11:46723146 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.1574G>A (p.Arg525His) single nucleotide variant Inborn genetic diseases [RCV004041237]|not provided [RCV001895504] Chr11:46705274 [GRCh38]
Chr11:46726824 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.726G>A (p.Gln242=) single nucleotide variant not provided [RCV002006265] Chr11:46704426 [GRCh38]
Chr11:46725976 [GRCh37]
Chr11:11p11.2		 likely benign|uncertain significance
NM_024741.3(ZNF408):c.1618C>T (p.Arg540Trp) single nucleotide variant not provided [RCV001945919] Chr11:46705318 [GRCh38]
Chr11:46726868 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.1061G>A (p.Arg354Gln) single nucleotide variant not provided [RCV002006914] Chr11:46704761 [GRCh38]
Chr11:46726311 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.1169A>G (p.Tyr390Cys) single nucleotide variant not provided [RCV002023659] Chr11:46704869 [GRCh38]
Chr11:46726419 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.469G>C (p.Val157Leu) single nucleotide variant Inborn genetic diseases [RCV004686708]|not provided [RCV001965999] Chr11:46703060 [GRCh38]
Chr11:46724610 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.1642G>A (p.Gly548Arg) single nucleotide variant not provided [RCV001965431] Chr11:46705342 [GRCh38]
Chr11:46726892 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.1774A>G (p.Thr592Ala) single nucleotide variant not provided [RCV002041774] Chr11:46705474 [GRCh38]
Chr11:46727024 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.1601C>T (p.Pro534Leu) single nucleotide variant not provided [RCV002017581] Chr11:46705301 [GRCh38]
Chr11:46726851 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.535A>G (p.Ser179Gly) single nucleotide variant not provided [RCV001888554] Chr11:46703126 [GRCh38]
Chr11:46724676 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.674C>T (p.Ser225Phe) single nucleotide variant not provided [RCV001887784] Chr11:46704374 [GRCh38]
Chr11:46725924 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.1585T>C (p.Cys529Arg) single nucleotide variant not provided [RCV001944107] Chr11:46705285 [GRCh38]
Chr11:46726835 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.577G>A (p.Val193Met) single nucleotide variant not provided [RCV001877823] Chr11:46703168 [GRCh38]
Chr11:46724718 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.199C>T (p.Leu67Phe) single nucleotide variant not provided [RCV001900861] Chr11:46701545 [GRCh38]
Chr11:46723095 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.2153T>G (p.Met718Arg) single nucleotide variant not provided [RCV001878000] Chr11:46705853 [GRCh38]
Chr11:46727403 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.442C>T (p.Arg148Trp) single nucleotide variant not provided [RCV001962183] Chr11:46703033 [GRCh38]
Chr11:46724583 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.1006_1007del (p.Ser336fs) microsatellite not provided [RCV001960219] Chr11:46704703..46704704 [GRCh38]
Chr11:46726253..46726254 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.670C>G (p.Pro224Ala) single nucleotide variant not provided [RCV001961688] Chr11:46704370 [GRCh38]
Chr11:46725920 [GRCh37]
Chr11:11p11.2		 uncertain significance
NC_000011.9:g.(?_46318032)_(46761066_?)dup duplication not provided [RCV001997118] Chr11:46318032..46761066 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.406G>A (p.Gly136Ser) single nucleotide variant not provided [RCV002037525] Chr11:46702997 [GRCh38]
Chr11:46724547 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.953C>G (p.Pro318Arg) single nucleotide variant not provided [RCV001942614] Chr11:46704653 [GRCh38]
Chr11:46726203 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.967C>T (p.Pro323Ser) single nucleotide variant not provided [RCV001992168] Chr11:46704667 [GRCh38]
Chr11:46726217 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.1961C>T (p.Ala654Val) single nucleotide variant not provided [RCV001899170] Chr11:46705661 [GRCh38]
Chr11:46727211 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.68T>C (p.Leu23Pro) single nucleotide variant not provided [RCV001954226] Chr11:46701414 [GRCh38]
Chr11:46722964 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.970G>A (p.Glu324Lys) single nucleotide variant not provided [RCV001979206] Chr11:46704670 [GRCh38]
Chr11:46726220 [GRCh37]
Chr11:11p11.2		 uncertain significance
NC_000011.9:g.(?_46722598)_(46727413_?)del deletion not provided [RCV002012095] Chr11:46722598..46727413 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.474_476dup (p.Tyr158_Gln159insHis) duplication not provided [RCV002047341] Chr11:46703063..46703064 [GRCh38]
Chr11:46724613..46724614 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.159_160insAAT (p.Ala53_Leu54insAsn) insertion not provided [RCV001917031] Chr11:46701504..46701505 [GRCh38]
Chr11:46723054..46723055 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.967C>G (p.Pro323Ala) single nucleotide variant not provided [RCV002013507] Chr11:46704667 [GRCh38]
Chr11:46726217 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.836C>T (p.Ser279Leu) single nucleotide variant not provided [RCV002026309] Chr11:46704536 [GRCh38]
Chr11:46726086 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.122A>G (p.Lys41Arg) single nucleotide variant not provided [RCV002014851] Chr11:46701468 [GRCh38]
Chr11:46723018 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.1249G>T (p.Ala417Ser) single nucleotide variant not provided [RCV002026510] Chr11:46704949 [GRCh38]
Chr11:46726499 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.467A>G (p.Gln156Arg) single nucleotide variant not provided [RCV001993467] Chr11:46703058 [GRCh38]
Chr11:46724608 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.1423C>T (p.Arg475Trp) single nucleotide variant not provided [RCV001937429] Chr11:46705123 [GRCh38]
Chr11:46726673 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.1591G>A (p.Asp531Asn) single nucleotide variant Inborn genetic diseases [RCV002592649]|not provided [RCV002010063] Chr11:46705291 [GRCh38]
Chr11:46726841 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.1054C>T (p.Arg352Trp) single nucleotide variant Retinal dystrophy [RCV003888912]|not provided [RCV001938333] Chr11:46704754 [GRCh38]
Chr11:46726304 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.461A>G (p.His154Arg) single nucleotide variant not provided [RCV001980523] Chr11:46703052 [GRCh38]
Chr11:46724602 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.1115C>G (p.Ala372Gly) single nucleotide variant not provided [RCV002046622] Chr11:46704815 [GRCh38]
Chr11:46726365 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.1346G>A (p.Arg449Gln) single nucleotide variant Inborn genetic diseases [RCV004041138]|Retinal dystrophy [RCV004815712]|not provided [RCV001881253] Chr11:46705046 [GRCh38]
Chr11:46726596 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.1850C>T (p.Thr617Ile) single nucleotide variant not provided [RCV001936132] Chr11:46705550 [GRCh38]
Chr11:46727100 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.88A>G (p.Asn30Asp) single nucleotide variant not provided [RCV001957782] Chr11:46701434 [GRCh38]
Chr11:46722984 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.364G>A (p.Ala122Thr) single nucleotide variant not provided [RCV001958561] Chr11:46702737 [GRCh38]
Chr11:46724287 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.118C>G (p.Leu40Val) single nucleotide variant not provided [RCV001905315] Chr11:46701464 [GRCh38]
Chr11:46723014 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.184G>A (p.Ala62Thr) single nucleotide variant not provided [RCV002014679] Chr11:46701530 [GRCh38]
Chr11:46723080 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.979G>C (p.Ala327Pro) single nucleotide variant not provided [RCV001877836] Chr11:46704679 [GRCh38]
Chr11:46726229 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.1682G>A (p.Arg561Gln) single nucleotide variant not provided [RCV001867644] Chr11:46705382 [GRCh38]
Chr11:46726932 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.164A>T (p.Lys55Met) single nucleotide variant not provided [RCV002019628] Chr11:46701510 [GRCh38]
Chr11:46723060 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.510_511delinsTT (p.Trp170_Pro171delinsCysSer) indel not provided [RCV001976077] Chr11:46703101..46703102 [GRCh38]
Chr11:46724651..46724652 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.527A>G (p.Glu176Gly) single nucleotide variant not provided [RCV001880927] Chr11:46703118 [GRCh38]
Chr11:46724668 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.477G>T (p.Gln159His) single nucleotide variant not provided [RCV002032275] Chr11:46703068 [GRCh38]
Chr11:46724618 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.1429C>A (p.Leu477Met) single nucleotide variant not provided [RCV001917384] Chr11:46705129 [GRCh38]
Chr11:46726679 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.1274A>G (p.Lys425Arg) single nucleotide variant not provided [RCV002018094] Chr11:46704974 [GRCh38]
Chr11:46726524 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.1586G>C (p.Cys529Ser) single nucleotide variant not provided [RCV002019283] Chr11:46705286 [GRCh38]
Chr11:46726836 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.1457A>G (p.His486Arg) single nucleotide variant not provided [RCV002036579] Chr11:46705157 [GRCh38]
Chr11:46726707 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.1087C>G (p.Leu363Val) single nucleotide variant not provided [RCV001989559] Chr11:46704787 [GRCh38]
Chr11:46726337 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.556G>T (p.Asp186Tyr) single nucleotide variant not provided [RCV001925671] Chr11:46703147 [GRCh38]
Chr11:46724697 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.1921C>A (p.Pro641Thr) single nucleotide variant not provided [RCV002035148] Chr11:46705621 [GRCh38]
Chr11:46727171 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.1010G>A (p.Arg337Gln) single nucleotide variant not provided [RCV001955440] Chr11:46704710 [GRCh38]
Chr11:46726260 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.1901C>T (p.Pro634Leu) single nucleotide variant not provided [RCV002050503] Chr11:46705601 [GRCh38]
Chr11:46727151 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.1243G>T (p.Asp415Tyr) single nucleotide variant not provided [RCV002016346] Chr11:46704943 [GRCh38]
Chr11:46726493 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.251C>T (p.Pro84Leu) single nucleotide variant not provided [RCV002030857] Chr11:46701597 [GRCh38]
Chr11:46723147 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.1988G>C (p.Arg663Thr) single nucleotide variant not provided [RCV002016778] Chr11:46705688 [GRCh38]
Chr11:46727238 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.778G>A (p.Asp260Asn) single nucleotide variant not provided [RCV002012745] Chr11:46704478 [GRCh38]
Chr11:46726028 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.494C>T (p.Ser165Phe) single nucleotide variant not provided [RCV001989325] Chr11:46703085 [GRCh38]
Chr11:46724635 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.280del (p.Glu94fs) deletion not provided [RCV001902113] Chr11:46701625 [GRCh38]
Chr11:46723175 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.2121C>T (p.Leu707=) single nucleotide variant not provided [RCV002149325] Chr11:46705821 [GRCh38]
Chr11:46727371 [GRCh37]
Chr11:11p11.2		 likely benign
NM_024741.3(ZNF408):c.54C>G (p.Ala18=) single nucleotide variant not provided [RCV002166276] Chr11:46701400 [GRCh38]
Chr11:46722950 [GRCh37]
Chr11:11p11.2		 likely benign
NM_024741.3(ZNF408):c.1995G>A (p.Glu665=) single nucleotide variant not provided [RCV002208497] Chr11:46705695 [GRCh38]
Chr11:46727245 [GRCh37]
Chr11:11p11.2		 likely benign
NM_024741.3(ZNF408):c.1323G>A (p.Gln441=) single nucleotide variant not provided [RCV002087780] Chr11:46705023 [GRCh38]
Chr11:46726573 [GRCh37]
Chr11:11p11.2		 likely benign
NM_024741.3(ZNF408):c.1236A>C (p.Pro412=) single nucleotide variant not provided [RCV002090864] Chr11:46704936 [GRCh38]
Chr11:46726486 [GRCh37]
Chr11:11p11.2		 likely benign
NM_024741.3(ZNF408):c.1002A>G (p.Thr334=) single nucleotide variant not provided [RCV002092670] Chr11:46704702 [GRCh38]
Chr11:46726252 [GRCh37]
Chr11:11p11.2		 likely benign
NM_024741.3(ZNF408):c.1857G>T (p.Pro619=) single nucleotide variant not provided [RCV002188699] Chr11:46705557 [GRCh38]
Chr11:46727107 [GRCh37]
Chr11:11p11.2		 likely benign
NM_024741.3(ZNF408):c.48A>G (p.Gln16=) single nucleotide variant not provided [RCV002106338] Chr11:46701095 [GRCh38]
Chr11:46722645 [GRCh37]
Chr11:11p11.2		 likely benign
NM_024741.3(ZNF408):c.2082C>T (p.Ala694=) single nucleotide variant not provided [RCV002129392] Chr11:46705782 [GRCh38]
Chr11:46727332 [GRCh37]
Chr11:11p11.2		 likely benign
NM_024741.3(ZNF408):c.1482G>A (p.Lys494=) single nucleotide variant not provided [RCV002165796] Chr11:46705182 [GRCh38]
Chr11:46726732 [GRCh37]
Chr11:11p11.2		 likely benign
NM_024741.3(ZNF408):c.885T>C (p.Ser295=) single nucleotide variant not provided [RCV002188732] Chr11:46704585 [GRCh38]
Chr11:46726135 [GRCh37]
Chr11:11p11.2		 likely benign
NM_024741.3(ZNF408):c.833A>G (p.Asn278Ser) single nucleotide variant Retinal dystrophy [RCV004816960]|ZNF408-related disorder [RCV004758864]|not provided [RCV002096201] Chr11:46704533 [GRCh38]
Chr11:46726083 [GRCh37]
Chr11:11p11.2		 likely benign|uncertain significance
NM_024741.3(ZNF408):c.392+12G>C single nucleotide variant not provided [RCV002188174] Chr11:46702777 [GRCh38]
Chr11:46724327 [GRCh37]
Chr11:11p11.2		 likely benign
NM_024741.3(ZNF408):c.828G>A (p.Gln276=) single nucleotide variant not provided [RCV002172223] Chr11:46704528 [GRCh38]
Chr11:46726078 [GRCh37]
Chr11:11p11.2		 likely benign
NM_024741.3(ZNF408):c.477G>A (p.Gln159=) single nucleotide variant not provided [RCV002207210] Chr11:46703068 [GRCh38]
Chr11:46724618 [GRCh37]
Chr11:11p11.2		 likely benign
NM_024741.3(ZNF408):c.219G>A (p.Leu73=) single nucleotide variant not provided [RCV002080649] Chr11:46701565 [GRCh38]
Chr11:46723115 [GRCh37]
Chr11:11p11.2		 likely benign
NM_024741.3(ZNF408):c.1500C>T (p.His500=) single nucleotide variant not provided [RCV002196569] Chr11:46705200 [GRCh38]
Chr11:46726750 [GRCh37]
Chr11:11p11.2		 likely benign
NM_024741.3(ZNF408):c.522C>T (p.Ser174=) single nucleotide variant not provided [RCV002134258] Chr11:46703113 [GRCh38]
Chr11:46724663 [GRCh37]
Chr11:11p11.2		 likely benign
NM_024741.3(ZNF408):c.652+8T>A single nucleotide variant not provided [RCV002080104] Chr11:46703251 [GRCh38]
Chr11:46724801 [GRCh37]
Chr11:11p11.2		 likely benign
NM_024741.3(ZNF408):c.1800T>C (p.Ser600=) single nucleotide variant not provided [RCV002095912] Chr11:46705500 [GRCh38]
Chr11:46727050 [GRCh37]
Chr11:11p11.2		 likely benign
NM_024741.3(ZNF408):c.331-17T>C single nucleotide variant not provided [RCV002150253] Chr11:46702687 [GRCh38]
Chr11:46724237 [GRCh37]
Chr11:11p11.2		 likely benign
NM_024741.3(ZNF408):c.331-18T>C single nucleotide variant not provided [RCV002151567] Chr11:46702686 [GRCh38]
Chr11:46724236 [GRCh37]
Chr11:11p11.2		 likely benign
NM_024741.3(ZNF408):c.392+7C>T single nucleotide variant not provided [RCV002081174] Chr11:46702772 [GRCh38]
Chr11:46724322 [GRCh37]
Chr11:11p11.2		 likely benign
NM_024741.3(ZNF408):c.53-4G>A single nucleotide variant not provided [RCV002153952] Chr11:46701395 [GRCh38]
Chr11:46722945 [GRCh37]
Chr11:11p11.2		 likely benign
NM_024741.3(ZNF408):c.244C>T (p.Leu82=) single nucleotide variant not provided [RCV002156144] Chr11:46701590 [GRCh38]
Chr11:46723140 [GRCh37]
Chr11:11p11.2		 likely benign
NM_024741.3(ZNF408):c.834T>C (p.Asn278=) single nucleotide variant not provided [RCV002158219] Chr11:46704534 [GRCh38]
Chr11:46726084 [GRCh37]
Chr11:11p11.2		 likely benign
NM_024741.3(ZNF408):c.256C>T (p.Leu86=) single nucleotide variant not provided [RCV002081946] Chr11:46701602 [GRCh38]
Chr11:46723152 [GRCh37]
Chr11:11p11.2		 likely benign
NM_024741.3(ZNF408):c.53-14C>T single nucleotide variant not provided [RCV002138089] Chr11:46701385 [GRCh38]
Chr11:46722935 [GRCh37]
Chr11:11p11.2		 likely benign
NM_024741.3(ZNF408):c.53-10C>T single nucleotide variant not provided [RCV002176547] Chr11:46701389 [GRCh38]
Chr11:46722939 [GRCh37]
Chr11:11p11.2		 likely benign
NM_024741.3(ZNF408):c.390T>C (p.Thr130=) single nucleotide variant not provided [RCV002180553] Chr11:46702763 [GRCh38]
Chr11:46724313 [GRCh37]
Chr11:11p11.2		 likely benign
NM_024741.3(ZNF408):c.1512G>A (p.Ala504=) single nucleotide variant not provided [RCV002083054] Chr11:46705212 [GRCh38]
Chr11:46726762 [GRCh37]
Chr11:11p11.2		 likely benign
NM_024741.3(ZNF408):c.1284G>A (p.Gln428=) single nucleotide variant not provided [RCV002144477] Chr11:46704984 [GRCh38]
Chr11:46726534 [GRCh37]
Chr11:11p11.2		 likely benign
NM_024741.3(ZNF408):c.693T>C (p.Asn231=) single nucleotide variant not provided [RCV002176070] Chr11:46704393 [GRCh38]
Chr11:46725943 [GRCh37]
Chr11:11p11.2		 likely benign
NM_024741.3(ZNF408):c.392+20G>T single nucleotide variant not provided [RCV002082127] Chr11:46702785 [GRCh38]
Chr11:46724335 [GRCh37]
Chr11:11p11.2		 likely benign
NM_024741.3(ZNF408):c.2148G>A (p.Val716=) single nucleotide variant not provided [RCV002161110] Chr11:46705848 [GRCh38]
Chr11:46727398 [GRCh37]
Chr11:11p11.2		 likely benign
NM_024741.3(ZNF408):c.1617G>T (p.Leu539=) single nucleotide variant not provided [RCV002102129] Chr11:46705317 [GRCh38]
Chr11:46726867 [GRCh37]
Chr11:11p11.2		 likely benign
NM_024741.3(ZNF408):c.105C>T (p.Gly35=) single nucleotide variant not provided [RCV002144599] Chr11:46701451 [GRCh38]
Chr11:46723001 [GRCh37]
Chr11:11p11.2		 likely benign
NM_024741.3(ZNF408):c.52+19C>T single nucleotide variant not provided [RCV002158401] Chr11:46701118 [GRCh38]
Chr11:46722668 [GRCh37]
Chr11:11p11.2		 likely benign
NM_024741.3(ZNF408):c.1251C>T (p.Ala417=) single nucleotide variant not provided [RCV002120729] Chr11:46704951 [GRCh38]
Chr11:46726501 [GRCh37]
Chr11:11p11.2		 likely benign
NM_024741.3(ZNF408):c.45G>A (p.Leu15=) single nucleotide variant not provided [RCV002203385] Chr11:46701092 [GRCh38]
Chr11:46722642 [GRCh37]
Chr11:11p11.2		 likely benign
NM_024741.3(ZNF408):c.1093C>T (p.Leu365=) single nucleotide variant not provided [RCV002156140] Chr11:46704793 [GRCh38]
Chr11:46726343 [GRCh37]
Chr11:11p11.2		 likely benign
NM_024741.3(ZNF408):c.43C>T (p.Leu15=) single nucleotide variant not provided [RCV002184037] Chr11:46701090 [GRCh38]
Chr11:46722640 [GRCh37]
Chr11:11p11.2		 likely benign
NM_024741.3(ZNF408):c.66C>T (p.Arg22=) single nucleotide variant not provided [RCV002119025] Chr11:46701412 [GRCh38]
Chr11:46722962 [GRCh37]
Chr11:11p11.2		 likely benign
NM_024741.3(ZNF408):c.1392C>T (p.Ala464=) single nucleotide variant not provided [RCV002122268] Chr11:46705092 [GRCh38]
Chr11:46726642 [GRCh37]
Chr11:11p11.2		 likely benign
NM_024741.3(ZNF408):c.1975C>T (p.Leu659=) single nucleotide variant not provided [RCV002157568] Chr11:46705675 [GRCh38]
Chr11:46727225 [GRCh37]
Chr11:11p11.2		 likely benign
NC_000011.9:g.(?_45827353)_(47804770_?)del deletion Leukocyte adhesion deficiency type II [RCV003119908] Chr11:45827353..47804770 [GRCh37]
Chr11:11p11.2		 pathogenic
GRCh37/hg19 11p11.2-q12.2(chr11:51581311-54891247)x3 copy number gain See cases [RCV002286338] Chr11:51581311..54891247 [GRCh37]
Chr11:11p11.2-q12.2		 pathogenic
NM_024741.3(ZNF408):c.392G>C (p.Ser131Thr) single nucleotide variant not provided [RCV002265289] Chr11:46702765 [GRCh38]
Chr11:46724315 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.1915T>C (p.Ser639Pro) single nucleotide variant not provided [RCV002297362] Chr11:46705615 [GRCh38]
Chr11:46727165 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.2146G>A (p.Val716Met) single nucleotide variant not provided [RCV002304823] Chr11:46705846 [GRCh38]
Chr11:46727396 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.232G>A (p.Val78Ile) single nucleotide variant not provided [RCV002295665] Chr11:46701578 [GRCh38]
Chr11:46723128 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.330+4T>C single nucleotide variant not provided [RCV002880825] Chr11:46701680 [GRCh38]
Chr11:46723230 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.977G>A (p.Gly326Glu) single nucleotide variant not provided [RCV002838285] Chr11:46704677 [GRCh38]
Chr11:46726227 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.678C>T (p.Gly226=) single nucleotide variant not provided [RCV002881280] Chr11:46704378 [GRCh38]
Chr11:46725928 [GRCh37]
Chr11:11p11.2		 likely benign
NM_024741.3(ZNF408):c.1343G>A (p.Arg448His) single nucleotide variant not provided [RCV002690435] Chr11:46705043 [GRCh38]
Chr11:46726593 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.704C>G (p.Pro235Arg) single nucleotide variant Inborn genetic diseases [RCV002690525]|Retinal dystrophy [RCV003889152]|not provided [RCV002690524] Chr11:46704404 [GRCh38]
Chr11:46725954 [GRCh37]
Chr11:11p11.2		 likely benign|uncertain significance
NM_024741.3(ZNF408):c.2090G>A (p.Ser697Asn) single nucleotide variant not provided [RCV002907651] Chr11:46705790 [GRCh38]
Chr11:46727340 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.933C>A (p.Ser311Arg) single nucleotide variant not provided [RCV002750423] Chr11:46704633 [GRCh38]
Chr11:46726183 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.2081C>G (p.Ala694Gly) single nucleotide variant not provided [RCV002975430] Chr11:46705781 [GRCh38]
Chr11:46727331 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.1557C>A (p.Thr519=) single nucleotide variant not provided [RCV002880498] Chr11:46705257 [GRCh38]
Chr11:46726807 [GRCh37]
Chr11:11p11.2		 likely benign
NM_024741.3(ZNF408):c.374A>G (p.Gln125Arg) single nucleotide variant not provided [RCV002730713] Chr11:46702747 [GRCh38]
Chr11:46724297 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.1166G>A (p.Ser389Asn) single nucleotide variant not provided [RCV002839248] Chr11:46704866 [GRCh38]
Chr11:46726416 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.886G>T (p.Ala296Ser) single nucleotide variant Inborn genetic diseases [RCV002727878]|not provided [RCV005099585] Chr11:46704586 [GRCh38]
Chr11:46726136 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.1747C>A (p.Gln583Lys) single nucleotide variant not provided [RCV002838814] Chr11:46705447 [GRCh38]
Chr11:46726997 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.1418G>T (p.Cys473Phe) single nucleotide variant not provided [RCV003011873] Chr11:46705118 [GRCh38]
Chr11:46726668 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.872G>A (p.Ser291Asn) single nucleotide variant Inborn genetic diseases [RCV002778625] Chr11:46704572 [GRCh38]
Chr11:46726122 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.652+2T>C single nucleotide variant not provided [RCV002903019] Chr11:46703245 [GRCh38]
Chr11:46724795 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.2147_2149dup (p.Val716_Glu717insVal) duplication not provided [RCV002842453] Chr11:46705844..46705845 [GRCh38]
Chr11:46727394..46727395 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.1865T>G (p.Leu622Arg) single nucleotide variant not provided [RCV003038312] Chr11:46705565 [GRCh38]
Chr11:46727115 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.1480A>G (p.Lys494Glu) single nucleotide variant not provided [RCV002913785] Chr11:46705180 [GRCh38]
Chr11:46726730 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.672C>G (p.Pro224=) single nucleotide variant not provided [RCV002696292] Chr11:46704372 [GRCh38]
Chr11:46725922 [GRCh37]
Chr11:11p11.2		 likely benign
NM_024741.3(ZNF408):c.2081C>A (p.Ala694Asp) single nucleotide variant not provided [RCV003002974] Chr11:46705781 [GRCh38]
Chr11:46727331 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.403C>G (p.Arg135Gly) single nucleotide variant not provided [RCV002690667] Chr11:46702994 [GRCh38]
Chr11:46724544 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.1050G>A (p.Gly350=) single nucleotide variant not provided [RCV002927197] Chr11:46704750 [GRCh38]
Chr11:46726300 [GRCh37]
Chr11:11p11.2		 likely benign
NM_024741.3(ZNF408):c.471G>A (p.Val157=) single nucleotide variant not provided [RCV002821053] Chr11:46703062 [GRCh38]
Chr11:46724612 [GRCh37]
Chr11:11p11.2		 likely benign
NM_024741.3(ZNF408):c.215G>T (p.Arg72Leu) single nucleotide variant Inborn genetic diseases [RCV002869590] Chr11:46701561 [GRCh38]
Chr11:46723111 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.610G>A (p.Glu204Lys) single nucleotide variant not provided [RCV002735191] Chr11:46703201 [GRCh38]
Chr11:46724751 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.1204G>A (p.Gly402Ser) single nucleotide variant not provided [RCV003037818] Chr11:46704904 [GRCh38]
Chr11:46726454 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.1251C>G (p.Ala417=) single nucleotide variant not provided [RCV003036572] Chr11:46704951 [GRCh38]
Chr11:46726501 [GRCh37]
Chr11:11p11.2		 likely benign
NM_024741.3(ZNF408):c.2005C>T (p.Pro669Ser) single nucleotide variant not provided [RCV002735626] Chr11:46705705 [GRCh38]
Chr11:46727255 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.53-13C>T single nucleotide variant not provided [RCV002796436] Chr11:46701386 [GRCh38]
Chr11:46722936 [GRCh37]
Chr11:11p11.2		 likely benign
NM_024741.3(ZNF408):c.393-3C>A single nucleotide variant not provided [RCV003019942] Chr11:46702981 [GRCh38]
Chr11:46724531 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.1897G>A (p.Ala633Thr) single nucleotide variant not provided [RCV003078460] Chr11:46705597 [GRCh38]
Chr11:46727147 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.1293T>C (p.His431=) single nucleotide variant not provided [RCV002948656] Chr11:46704993 [GRCh38]
Chr11:46726543 [GRCh37]
Chr11:11p11.2		 likely benign
NM_024741.3(ZNF408):c.1220G>A (p.Arg407Gln) single nucleotide variant Inborn genetic diseases [RCV002848790] Chr11:46704920 [GRCh38]
Chr11:46726470 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.1567_1573del (p.Pro523fs) deletion not provided [RCV002952613] Chr11:46705267..46705273 [GRCh38]
Chr11:46726817..46726823 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.1111C>G (p.His371Asp) single nucleotide variant not provided [RCV003037609] Chr11:46704811 [GRCh38]
Chr11:46726361 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.1051C>T (p.Arg351Ter) single nucleotide variant not provided [RCV003038325] Chr11:46704751 [GRCh38]
Chr11:46726301 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.52+10C>T single nucleotide variant not provided [RCV002569904] Chr11:46701109 [GRCh38]
Chr11:46722659 [GRCh37]
Chr11:11p11.2		 likely benign
NM_024741.3(ZNF408):c.297G>A (p.Glu99=) single nucleotide variant not provided [RCV003080119] Chr11:46701643 [GRCh38]
Chr11:46723193 [GRCh37]
Chr11:11p11.2		 likely benign
NM_024741.3(ZNF408):c.31G>A (p.Gly11Arg) single nucleotide variant not provided [RCV003055142] Chr11:46701078 [GRCh38]
Chr11:46722628 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.330+17C>T single nucleotide variant not provided [RCV002706548] Chr11:46701693 [GRCh38]
Chr11:46723243 [GRCh37]
Chr11:11p11.2		 likely benign
NM_024741.3(ZNF408):c.1766C>T (p.Thr589Met) single nucleotide variant not provided [RCV002626335] Chr11:46705466 [GRCh38]
Chr11:46727016 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.1939C>T (p.Pro647Ser) single nucleotide variant Inborn genetic diseases [RCV002955075] Chr11:46705639 [GRCh38]
Chr11:46727189 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.1237C>T (p.Gln413Ter) single nucleotide variant not provided [RCV002894171] Chr11:46704937 [GRCh38]
Chr11:46726487 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.2155G>A (p.Gly719Ser) single nucleotide variant not provided [RCV002801978] Chr11:46705855 [GRCh38]
Chr11:46727405 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.134C>G (p.Pro45Arg) single nucleotide variant Inborn genetic diseases [RCV002916092] Chr11:46701480 [GRCh38]
Chr11:46723030 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.1830C>T (p.Pro610=) single nucleotide variant not provided [RCV003023886] Chr11:46705530 [GRCh38]
Chr11:46727080 [GRCh37]
Chr11:11p11.2		 likely benign
NM_024741.3(ZNF408):c.1822C>T (p.Arg608Cys) single nucleotide variant not provided [RCV002593723] Chr11:46705522 [GRCh38]
Chr11:46727072 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.290C>T (p.Ser97Phe) single nucleotide variant Inborn genetic diseases [RCV002849651] Chr11:46701636 [GRCh38]
Chr11:46723186 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.1010_1014dup (p.Pro339fs) duplication not provided [RCV002890793] Chr11:46704707..46704708 [GRCh38]
Chr11:46726257..46726258 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.798G>A (p.Pro266=) single nucleotide variant not provided [RCV002574009] Chr11:46704498 [GRCh38]
Chr11:46726048 [GRCh37]
Chr11:11p11.2		 likely benign
NM_024741.3(ZNF408):c.766C>T (p.Leu256Phe) single nucleotide variant not provided [RCV002825783] Chr11:46704466 [GRCh38]
Chr11:46726016 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.1768C>T (p.Leu590=) single nucleotide variant not provided [RCV002875716] Chr11:46705468 [GRCh38]
Chr11:46727018 [GRCh37]
Chr11:11p11.2		 likely benign
NM_024741.3(ZNF408):c.1087C>A (p.Leu363Ile) single nucleotide variant not provided [RCV002710376] Chr11:46704787 [GRCh38]
Chr11:46726337 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.144C>T (p.Thr48=) single nucleotide variant not provided [RCV002853448] Chr11:46701490 [GRCh38]
Chr11:46723040 [GRCh37]
Chr11:11p11.2		 likely benign
NM_024741.3(ZNF408):c.1573C>T (p.Arg525Cys) single nucleotide variant not provided [RCV002875611] Chr11:46705273 [GRCh38]
Chr11:46726823 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.656C>T (p.Pro219Leu) single nucleotide variant not provided [RCV002642627] Chr11:46704356 [GRCh38]
Chr11:46725906 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.1993G>A (p.Glu665Lys) single nucleotide variant Inborn genetic diseases [RCV002986983]|not provided [RCV003730341] Chr11:46705693 [GRCh38]
Chr11:46727243 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.1008G>C (p.Ser336=) single nucleotide variant not provided [RCV002766158] Chr11:46704708 [GRCh38]
Chr11:46726258 [GRCh37]
Chr11:11p11.2		 likely benign
NM_024741.3(ZNF408):c.71G>A (p.Gly24Asp) single nucleotide variant not provided [RCV002810617] Chr11:46701417 [GRCh38]
Chr11:46722967 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.826C>T (p.Gln276Ter) single nucleotide variant not provided [RCV002921972] Chr11:46704526 [GRCh38]
Chr11:46726076 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.133C>T (p.Pro45Ser) single nucleotide variant not provided [RCV002671251] Chr11:46701479 [GRCh38]
Chr11:46723029 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.1662G>A (p.Pro554=) single nucleotide variant not provided [RCV002602940] Chr11:46705362 [GRCh38]
Chr11:46726912 [GRCh37]
Chr11:11p11.2		 likely benign
NM_024741.3(ZNF408):c.739A>G (p.Lys247Glu) single nucleotide variant not provided [RCV002581089] Chr11:46704439 [GRCh38]
Chr11:46725989 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.285T>C (p.Ser95=) single nucleotide variant not provided [RCV002791940] Chr11:46701631 [GRCh38]
Chr11:46723181 [GRCh37]
Chr11:11p11.2		 likely benign
NM_024741.3(ZNF408):c.435C>A (p.Ala145=) single nucleotide variant not provided [RCV002632008] Chr11:46703026 [GRCh38]
Chr11:46724576 [GRCh37]
Chr11:11p11.2		 likely benign
NM_024741.3(ZNF408):c.421G>A (p.Glu141Lys) single nucleotide variant not provided [RCV002601270] Chr11:46703012 [GRCh38]
Chr11:46724562 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.973C>G (p.Pro325Ala) single nucleotide variant not provided [RCV002675918] Chr11:46704673 [GRCh38]
Chr11:46726223 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.1026A>C (p.Pro342=) single nucleotide variant not provided [RCV003027786] Chr11:46704726 [GRCh38]
Chr11:46726276 [GRCh37]
Chr11:11p11.2		 likely benign
NM_024741.3(ZNF408):c.2004_2007dup (p.Ala670fs) duplication not provided [RCV002834990] Chr11:46705702..46705703 [GRCh38]
Chr11:46727252..46727253 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.621C>T (p.Ser207=) single nucleotide variant not provided [RCV003044838] Chr11:46703212 [GRCh38]
Chr11:46724762 [GRCh37]
Chr11:11p11.2		 likely benign
NM_024741.3(ZNF408):c.1855C>T (p.Pro619Ser) single nucleotide variant not provided [RCV002746007] Chr11:46705555 [GRCh38]
Chr11:46727105 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.1167C>T (p.Ser389=) single nucleotide variant not provided [RCV002857832] Chr11:46704867 [GRCh38]
Chr11:46726417 [GRCh37]
Chr11:11p11.2		 likely benign
NM_024741.3(ZNF408):c.958G>C (p.Ala320Pro) single nucleotide variant Inborn genetic diseases [RCV003274134]|not provided [RCV003009555] Chr11:46704658 [GRCh38]
Chr11:46726208 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.1308C>G (p.Pro436=) single nucleotide variant not provided [RCV002577165] Chr11:46705008 [GRCh38]
Chr11:46726558 [GRCh37]
Chr11:11p11.2		 likely benign
NM_024741.3(ZNF408):c.1008G>T (p.Ser336=) single nucleotide variant not provided [RCV002576812] Chr11:46704708 [GRCh38]
Chr11:46726258 [GRCh37]
Chr11:11p11.2		 likely benign
NM_024741.3(ZNF408):c.713dup (p.Phe239fs) duplication not provided [RCV003027845] Chr11:46704411..46704412 [GRCh38]
Chr11:46725961..46725962 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.1312G>C (p.Ala438Pro) single nucleotide variant not provided [RCV002578929] Chr11:46705012 [GRCh38]
Chr11:46726562 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.1996G>A (p.Glu666Lys) single nucleotide variant not provided [RCV002577379] Chr11:46705696 [GRCh38]
Chr11:46727246 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.1907G>C (p.Ser636Thr) single nucleotide variant not provided [RCV003028160] Chr11:46705607 [GRCh38]
Chr11:46727157 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.138G>A (p.Glu46=) single nucleotide variant not provided [RCV003028974] Chr11:46701484 [GRCh38]
Chr11:46723034 [GRCh37]
Chr11:11p11.2		 likely benign
NM_024741.3(ZNF408):c.470T>G (p.Val157Gly) single nucleotide variant not provided [RCV003046901] Chr11:46703061 [GRCh38]
Chr11:46724611 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.1757G>A (p.Arg586His) single nucleotide variant not provided [RCV003087700] Chr11:46705457 [GRCh38]
Chr11:46727007 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.117C>A (p.Gly39=) single nucleotide variant not provided [RCV002962629] Chr11:46701463 [GRCh38]
Chr11:46723013 [GRCh37]
Chr11:11p11.2		 likely benign
NM_024741.3(ZNF408):c.1239A>G (p.Gln413=) single nucleotide variant not provided [RCV002581157] Chr11:46704939 [GRCh38]
Chr11:46726489 [GRCh37]
Chr11:11p11.2		 likely benign
NM_024741.3(ZNF408):c.902C>T (p.Pro301Leu) single nucleotide variant Inborn genetic diseases [RCV002718808] Chr11:46704602 [GRCh38]
Chr11:46726152 [GRCh37]
Chr11:11p11.2		 likely benign
NM_024741.3(ZNF408):c.329A>C (p.Glu110Ala) single nucleotide variant not provided [RCV003045171] Chr11:46701675 [GRCh38]
Chr11:46723225 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.786T>C (p.Asp262=) single nucleotide variant not provided [RCV002580434] Chr11:46704486 [GRCh38]
Chr11:46726036 [GRCh37]
Chr11:11p11.2		 likely benign
NM_024741.3(ZNF408):c.294G>A (p.Lys98=) single nucleotide variant not provided [RCV002745948] Chr11:46701640 [GRCh38]
Chr11:46723190 [GRCh37]
Chr11:11p11.2		 likely benign
NM_024741.3(ZNF408):c.853C>G (p.Pro285Ala) single nucleotide variant not provided [RCV002806441] Chr11:46704553 [GRCh38]
Chr11:46726103 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.1009C>T (p.Arg337Trp) single nucleotide variant not provided [RCV003090037] Chr11:46704709 [GRCh38]
Chr11:46726259 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.1594G>T (p.Ala532Ser) single nucleotide variant not provided [RCV002811790] Chr11:46705294 [GRCh38]
Chr11:46726844 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.1898C>T (p.Ala633Val) single nucleotide variant not provided [RCV003026902] Chr11:46705598 [GRCh38]
Chr11:46727148 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.136G>C (p.Glu46Gln) single nucleotide variant not provided [RCV002627556] Chr11:46701482 [GRCh38]
Chr11:46723032 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.1000A>G (p.Thr334Ala) single nucleotide variant not provided [RCV002833335] Chr11:46704700 [GRCh38]
Chr11:46726250 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.368G>A (p.Cys123Tyr) single nucleotide variant not provided [RCV002834056] Chr11:46702741 [GRCh38]
Chr11:46724291 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.1522C>T (p.Arg508Trp) single nucleotide variant Inborn genetic diseases [RCV004964981] Chr11:46705222 [GRCh38]
Chr11:46726772 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.1564C>T (p.Arg522Cys) single nucleotide variant Inborn genetic diseases [RCV004964978] Chr11:46705264 [GRCh38]
Chr11:46726814 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.703C>T (p.Pro235Ser) single nucleotide variant Inborn genetic diseases [RCV004964979] Chr11:46704403 [GRCh38]
Chr11:46725953 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.1049G>A (p.Gly350Glu) single nucleotide variant Inborn genetic diseases [RCV004964980] Chr11:46704749 [GRCh38]
Chr11:46726299 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.392+12G>A single nucleotide variant not provided [RCV002721449] Chr11:46702777 [GRCh38]
Chr11:46724327 [GRCh37]
Chr11:11p11.2		 likely benign
NM_024741.3(ZNF408):c.1203G>A (p.Leu401=) single nucleotide variant not provided [RCV002725822] Chr11:46704903 [GRCh38]
Chr11:46726453 [GRCh37]
Chr11:11p11.2		 likely benign
NM_024741.3(ZNF408):c.1030G>A (p.Gly344Arg) single nucleotide variant not provided [RCV003069823] Chr11:46704730 [GRCh38]
Chr11:46726280 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.816A>G (p.Pro272=) single nucleotide variant not provided [RCV003093726] Chr11:46704516 [GRCh38]
Chr11:46726066 [GRCh37]
Chr11:11p11.2		 likely benign
NM_024741.3(ZNF408):c.246G>A (p.Leu82=) single nucleotide variant not provided [RCV002726075] Chr11:46701592 [GRCh38]
Chr11:46723142 [GRCh37]
Chr11:11p11.2		 likely benign
NM_024741.3(ZNF408):c.419G>A (p.Ser140Asn) single nucleotide variant not provided [RCV002725564] Chr11:46703010 [GRCh38]
Chr11:46724560 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.1842G>A (p.Met614Ile) single nucleotide variant not provided [RCV003066947] Chr11:46705542 [GRCh38]
Chr11:46727092 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.1029del (p.Gly344fs) deletion not provided [RCV003051956] Chr11:46704729 [GRCh38]
Chr11:46726279 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.1599C>A (p.Phe533Leu) single nucleotide variant not provided [RCV002725679] Chr11:46705299 [GRCh38]
Chr11:46726849 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.1058A>G (p.Tyr353Cys) single nucleotide variant not provided [RCV002635682] Chr11:46704758 [GRCh38]
Chr11:46726308 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.1111C>T (p.His371Tyr) single nucleotide variant not provided [RCV002583295] Chr11:46704811 [GRCh38]
Chr11:46726361 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.197C>A (p.Ser66Ter) single nucleotide variant not provided [RCV002586545] Chr11:46701543 [GRCh38]
Chr11:46723093 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.653-7C>T single nucleotide variant not provided [RCV002587556] Chr11:46704346 [GRCh38]
Chr11:46725896 [GRCh37]
Chr11:11p11.2		 likely benign
NM_024741.3(ZNF408):c.404G>A (p.Arg135Gln) single nucleotide variant not provided [RCV002635967] Chr11:46702995 [GRCh38]
Chr11:46724545 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.98G>T (p.Gly33Val) single nucleotide variant not provided [RCV002609723] Chr11:46701444 [GRCh38]
Chr11:46722994 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.727G>A (p.Asp243Asn) single nucleotide variant not provided [RCV002609808] Chr11:46704427 [GRCh38]
Chr11:46725977 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.1814A>G (p.Lys605Arg) single nucleotide variant not provided [RCV002635537] Chr11:46705514 [GRCh38]
Chr11:46727064 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.777C>T (p.Gly259=) single nucleotide variant not provided [RCV002589006] Chr11:46704477 [GRCh38]
Chr11:46726027 [GRCh37]
Chr11:11p11.2		 likely benign
NM_024741.3(ZNF408):c.307G>A (p.Gly103Arg) single nucleotide variant not provided [RCV002635257] Chr11:46701653 [GRCh38]
Chr11:46723203 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.259C>T (p.Leu87=) single nucleotide variant not provided [RCV002609887] Chr11:46701605 [GRCh38]
Chr11:46723155 [GRCh37]
Chr11:11p11.2		 likely benign
NM_024741.3(ZNF408):c.929A>T (p.His310Leu) single nucleotide variant not provided [RCV002942315] Chr11:46704629 [GRCh38]
Chr11:46726179 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.1338T>C (p.Phe446=) single nucleotide variant not provided [RCV002612686] Chr11:46705038 [GRCh38]
Chr11:46726588 [GRCh37]
Chr11:11p11.2		 likely benign
NM_024741.3(ZNF408):c.2159C>T (p.Thr720Ile) single nucleotide variant Inborn genetic diseases [RCV003206693]|not provided [RCV005101247] Chr11:46705859 [GRCh38]
Chr11:46727409 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.1589C>T (p.Ala530Val) single nucleotide variant not provided [RCV003139435] Chr11:46705289 [GRCh38]
Chr11:46726839 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.344G>A (p.Gly115Asp) single nucleotide variant Inborn genetic diseases [RCV003263061] Chr11:46702717 [GRCh38]
Chr11:46724267 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.955A>G (p.Arg319Gly) single nucleotide variant Retinal dystrophy [RCV004816134]|not provided [RCV005059577] Chr11:46704655 [GRCh38]
Chr11:46726205 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.1451G>A (p.Arg484Gln) single nucleotide variant Inborn genetic diseases [RCV003386256] Chr11:46705151 [GRCh38]
Chr11:46726701 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.1596C>T (p.Ala532=) single nucleotide variant not provided [RCV003543812] Chr11:46705296 [GRCh38]
Chr11:46726846 [GRCh37]
Chr11:11p11.2		 likely benign
GRCh37/hg19 11p11.2(chr11:46556948-46825148)x3 copy number gain not provided [RCV003484840] Chr11:46556948..46825148 [GRCh37]
Chr11:11p11.2		 uncertain significance
GRCh37/hg19 11p11.2(chr11:46636234-47048768)x3 copy number gain not provided [RCV003484841] Chr11:46636234..47048768 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.1171A>G (p.Ser391Gly) single nucleotide variant not provided [RCV003443314] Chr11:46704871 [GRCh38]
Chr11:46726421 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.226T>A (p.Trp76Arg) single nucleotide variant not provided [RCV003693660] Chr11:46701572 [GRCh38]
Chr11:46723122 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.53-5T>A single nucleotide variant not provided [RCV003695862] Chr11:46701394 [GRCh38]
Chr11:46722944 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.1790A>C (p.His597Pro) single nucleotide variant not provided [RCV003659786] Chr11:46705490 [GRCh38]
Chr11:46727040 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.1749G>A (p.Gln583=) single nucleotide variant not provided [RCV003659956] Chr11:46705449 [GRCh38]
Chr11:46726999 [GRCh37]
Chr11:11p11.2		 likely benign
NM_024741.3(ZNF408):c.1116A>G (p.Ala372=) single nucleotide variant not provided [RCV003660359] Chr11:46704816 [GRCh38]
Chr11:46726366 [GRCh37]
Chr11:11p11.2		 likely benign
NM_024741.3(ZNF408):c.332A>G (p.Asn111Ser) single nucleotide variant not provided [RCV003663056] Chr11:46702705 [GRCh38]
Chr11:46724255 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.1164G>A (p.Lys388=) single nucleotide variant not provided [RCV003714553] Chr11:46704864 [GRCh38]
Chr11:46726414 [GRCh37]
Chr11:11p11.2		 likely benign
NM_024741.3(ZNF408):c.1324T>C (p.Cys442Arg) single nucleotide variant not provided [RCV003716193] Chr11:46705024 [GRCh38]
Chr11:46726574 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.55C>G (p.Arg19Gly) single nucleotide variant not provided [RCV003713582] Chr11:46701401 [GRCh38]
Chr11:46722951 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.1692C>G (p.His564Gln) single nucleotide variant not provided [RCV003689199] Chr11:46705392 [GRCh38]
Chr11:46726942 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.1378C>G (p.Gln460Glu) single nucleotide variant not provided [RCV003689246] Chr11:46705078 [GRCh38]
Chr11:46726628 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.1425G>T (p.Arg475=) single nucleotide variant not provided [RCV003850530] Chr11:46705125 [GRCh38]
Chr11:46726675 [GRCh37]
Chr11:11p11.2		 likely benign
NM_024741.3(ZNF408):c.1511C>T (p.Ala504Val) single nucleotide variant not provided [RCV003850036] Chr11:46705211 [GRCh38]
Chr11:46726761 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.1494C>T (p.Cys498=) single nucleotide variant not provided [RCV003670400] Chr11:46705194 [GRCh38]
Chr11:46726744 [GRCh37]
Chr11:11p11.2		 likely benign
NM_024741.3(ZNF408):c.831C>A (p.Ser277Arg) single nucleotide variant not provided [RCV003666730] Chr11:46704531 [GRCh38]
Chr11:46726081 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.893G>T (p.Gly298Val) single nucleotide variant not provided [RCV003665559] Chr11:46704593 [GRCh38]
Chr11:46726143 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.574G>A (p.Ala192Thr) single nucleotide variant not provided [RCV003835145] Chr11:46703165 [GRCh38]
Chr11:46724715 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.148G>A (p.Asp50Asn) single nucleotide variant not provided [RCV003672774] Chr11:46701494 [GRCh38]
Chr11:46723044 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.921del (p.Lys308fs) deletion not provided [RCV003835183] Chr11:46704621 [GRCh38]
Chr11:46726171 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.46C>T (p.Gln16Ter) single nucleotide variant not provided [RCV003673270] Chr11:46701093 [GRCh38]
Chr11:46722643 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.1356G>A (p.Leu452=) single nucleotide variant not provided [RCV003854855] Chr11:46705056 [GRCh38]
Chr11:46726606 [GRCh37]
Chr11:11p11.2		 likely benign
NM_024741.3(ZNF408):c.434C>T (p.Ala145Val) single nucleotide variant not provided [RCV003856053] Chr11:46703025 [GRCh38]
Chr11:46724575 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.1829C>T (p.Pro610Leu) single nucleotide variant not provided [RCV003702355] Chr11:46705529 [GRCh38]
Chr11:46727079 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.2149G>A (p.Glu717Lys) single nucleotide variant not provided [RCV003724223] Chr11:46705849 [GRCh38]
Chr11:46727399 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.1846T>A (p.Tyr616Asn) single nucleotide variant not provided [RCV003702356] Chr11:46705546 [GRCh38]
Chr11:46727096 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.1749G>T (p.Gln583His) single nucleotide variant not provided [RCV003816584] Chr11:46705449 [GRCh38]
Chr11:46726999 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.640G>C (p.Glu214Gln) single nucleotide variant not provided [RCV003704979] Chr11:46703231 [GRCh38]
Chr11:46724781 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.1512G>C (p.Ala504=) single nucleotide variant not provided [RCV003566971] Chr11:46705212 [GRCh38]
Chr11:46726762 [GRCh37]
Chr11:11p11.2		 likely benign
NM_024741.3(ZNF408):c.653-13C>G single nucleotide variant not provided [RCV003819853] Chr11:46704340 [GRCh38]
Chr11:46725890 [GRCh37]
Chr11:11p11.2		 likely benign
NM_024741.3(ZNF408):c.1638C>T (p.His546=) single nucleotide variant not provided [RCV003843803] Chr11:46705338 [GRCh38]
Chr11:46726888 [GRCh37]
Chr11:11p11.2		 likely benign
NM_024741.3(ZNF408):c.1133A>G (p.His378Arg) single nucleotide variant not provided [RCV003674544] Chr11:46704833 [GRCh38]
Chr11:46726383 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.1253A>G (p.Tyr418Cys) single nucleotide variant not provided [RCV003863190] Chr11:46704953 [GRCh38]
Chr11:46726503 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.330+2T>C single nucleotide variant not provided [RCV003711493] Chr11:46701678 [GRCh38]
Chr11:46723228 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.183G>A (p.Leu61=) single nucleotide variant not provided [RCV003843554] Chr11:46701529 [GRCh38]
Chr11:46723079 [GRCh37]
Chr11:11p11.2		 likely benign
NM_024741.3(ZNF408):c.1305G>A (p.Arg435=) single nucleotide variant not provided [RCV003865429] Chr11:46705005 [GRCh38]
Chr11:46726555 [GRCh37]
Chr11:11p11.2		 likely benign
NM_024741.3(ZNF408):c.2041A>G (p.Ser681Gly) single nucleotide variant not provided [RCV003848174] Chr11:46705741 [GRCh38]
Chr11:46727291 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.1878G>C (p.Gln626His) single nucleotide variant not provided [RCV003847465] Chr11:46705578 [GRCh38]
Chr11:46727128 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.1722C>T (p.Ser574=) single nucleotide variant not provided [RCV003841948] Chr11:46705422 [GRCh38]
Chr11:46726972 [GRCh37]
Chr11:11p11.2		 likely benign
NM_024741.3(ZNF408):c.2163A>G (p.Ter721Trp) single nucleotide variant not provided [RCV003678581] Chr11:46705863 [GRCh38]
Chr11:46727413 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.146G>A (p.Arg49Gln) single nucleotide variant not provided [RCV003683901] Chr11:46701492 [GRCh38]
Chr11:46723042 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.589G>A (p.Val197Met) single nucleotide variant not provided [RCV003685801] Chr11:46703180 [GRCh38]
Chr11:46724730 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.1114G>T (p.Ala372Ser) single nucleotide variant not provided [RCV003857143] Chr11:46704814 [GRCh38]
Chr11:46726364 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.1403G>T (p.Cys468Phe) single nucleotide variant not provided [RCV003824152] Chr11:46705103 [GRCh38]
Chr11:46726653 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.930C>T (p.His310=) single nucleotide variant not provided [RCV003844805] Chr11:46704630 [GRCh38]
Chr11:46726180 [GRCh37]
Chr11:11p11.2		 likely benign
NM_024741.3(ZNF408):c.1327G>A (p.Gly443Ser) single nucleotide variant not provided [RCV003847162] Chr11:46705027 [GRCh38]
Chr11:46726577 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.97G>A (p.Gly33Arg) single nucleotide variant not provided [RCV003679897] Chr11:46701443 [GRCh38]
Chr11:46722993 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.1891C>T (p.Pro631Ser) single nucleotide variant not provided [RCV003710703] Chr11:46705591 [GRCh38]
Chr11:46727141 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.1772C>T (p.Ala591Val) single nucleotide variant not provided [RCV003818544] Chr11:46705472 [GRCh38]
Chr11:46727022 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.316C>T (p.Pro106Ser) single nucleotide variant not provided [RCV003845177] Chr11:46701662 [GRCh38]
Chr11:46723212 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.156C>G (p.Leu52=) single nucleotide variant not provided [RCV003568151] Chr11:46701502 [GRCh38]
Chr11:46723052 [GRCh37]
Chr11:11p11.2		 likely benign
NM_024741.3(ZNF408):c.525T>G (p.Ser175=) single nucleotide variant not provided [RCV003683282] Chr11:46703116 [GRCh38]
Chr11:46724666 [GRCh37]
Chr11:11p11.2		 likely benign
NM_024741.3(ZNF408):c.1987A>G (p.Arg663Gly) single nucleotide variant Inborn genetic diseases [RCV004489384] Chr11:46705687 [GRCh38]
Chr11:46727237 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.1783dup (p.Arg595fs) duplication Retinal dystrophy [RCV003889574] Chr11:46705482..46705483 [GRCh38]
Chr11:46727032..46727033 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.243C>T (p.Pro81=) single nucleotide variant Retinal dystrophy [RCV003889569] Chr11:46701589 [GRCh38]
Chr11:46723139 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.1339G>A (p.Ala447Thr) single nucleotide variant Inborn genetic diseases [RCV004489382]|not provided [RCV005065148] Chr11:46705039 [GRCh38]
Chr11:46726589 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.1966C>T (p.Pro656Ser) single nucleotide variant Inborn genetic diseases [RCV004489383] Chr11:46705666 [GRCh38]
Chr11:46727216 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.860G>T (p.Gly287Val) single nucleotide variant Inborn genetic diseases [RCV004489385] Chr11:46704560 [GRCh38]
Chr11:46726110 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.2032A>G (p.Ile678Val) single nucleotide variant Retinal dystrophy [RCV003889579] Chr11:46705732 [GRCh38]
Chr11:46727282 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.903G>A (p.Pro301=) single nucleotide variant Retinal dystrophy [RCV003889571] Chr11:46704603 [GRCh38]
Chr11:46726153 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.2094G>A (p.Leu698=) single nucleotide variant Retinal dystrophy [RCV003889581] Chr11:46705794 [GRCh38]
Chr11:46727344 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.1932T>A (p.Ala644=) single nucleotide variant Retinal dystrophy [RCV003889578] Chr11:46705632 [GRCh38]
Chr11:46727182 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.1055G>A (p.Arg352Gln) single nucleotide variant Retinal dystrophy [RCV003889572] Chr11:46704755 [GRCh38]
Chr11:46726305 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.1219C>T (p.Arg407Trp) single nucleotide variant Retinal dystrophy [RCV003889573] Chr11:46704919 [GRCh38]
Chr11:46726469 [GRCh37]
Chr11:11p11.2		 likely pathogenic
NM_024741.3(ZNF408):c.2047_2049del (p.Glu683del) deletion Retinal dystrophy [RCV003889580] Chr11:46705745..46705747 [GRCh38]
Chr11:46727295..46727297 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.1870C>T (p.Arg624Trp) single nucleotide variant Retinal dystrophy [RCV003889576] Chr11:46705570 [GRCh38]
Chr11:46727120 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.604C>T (p.Gln202Ter) single nucleotide variant Retinal dystrophy [RCV003889570] Chr11:46703195 [GRCh38]
Chr11:46724745 [GRCh37]
Chr11:11p11.2		 likely pathogenic
NM_024741.3(ZNF408):c.1837G>A (p.Gly613Ser) single nucleotide variant Retinal dystrophy [RCV003889575] Chr11:46705537 [GRCh38]
Chr11:46727087 [GRCh37]
Chr11:11p11.2		 uncertain significance
NC_000011.9:g.(?_46722598)_(46761066_?)dup duplication Congenital prothrombin deficiency [RCV004580125] Chr11:46722598..46761066 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.952C>T (p.Pro318Ser) single nucleotide variant Inborn genetic diseases [RCV004689176] Chr11:46704652 [GRCh38]
Chr11:46726202 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.886G>C (p.Ala296Pro) single nucleotide variant Inborn genetic diseases [RCV004689175] Chr11:46704586 [GRCh38]
Chr11:46726136 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.1507C>T (p.Arg503Trp) single nucleotide variant not provided [RCV004598978] Chr11:46705207 [GRCh38]
Chr11:46726757 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.2157del (p.Thr720fs) deletion Optic atrophy [RCV004817598] Chr11:46705857 [GRCh38]
Chr11:46727407 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.1318G>A (p.Asp440Asn) single nucleotide variant not provided [RCV004766359] Chr11:46705018 [GRCh38]
Chr11:46726568 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.1058A>C (p.Tyr353Ser) single nucleotide variant Inborn genetic diseases [RCV004964982] Chr11:46704758 [GRCh38]
Chr11:46726308 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.1521G>T (p.Gln507His) single nucleotide variant not provided [RCV004769054] Chr11:46705221 [GRCh38]
Chr11:46726771 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.979G>A (p.Ala327Thr) single nucleotide variant Inborn genetic diseases [RCV004964977]|not provided [RCV005110014] Chr11:46704679 [GRCh38]
Chr11:46726229 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.794G>T (p.Cys265Phe) single nucleotide variant not provided [RCV004761741]   uncertain significance
GRCh37/hg19 11p11.2(chr11:46240817-46743032)x3 copy number gain not provided [RCV004819569] Chr11:46240817..46743032 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.1612G>A (p.Glu538Lys) single nucleotide variant not provided [RCV005105506] Chr11:46705312 [GRCh38]
Chr11:46726862 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.188_194del (p.Leu63fs) microsatellite not provided [RCV005085941] Chr11:46701526..46701532 [GRCh38]
Chr11:46723076..46723082 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.52+12G>A single nucleotide variant not provided [RCV005171617] Chr11:46701111 [GRCh38]
Chr11:46722661 [GRCh37]
Chr11:11p11.2		 likely benign
NM_024741.3(ZNF408):c.393-19C>T single nucleotide variant not provided [RCV005066821] Chr11:46702965 [GRCh38]
Chr11:46724515 [GRCh37]
Chr11:11p11.2		 likely benign
NM_024741.3(ZNF408):c.892G>T (p.Gly298Cys) single nucleotide variant not provided [RCV005145741] Chr11:46704592 [GRCh38]
Chr11:46726142 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.1358G>A (p.Arg453Gln) single nucleotide variant not provided [RCV005065827] Chr11:46705058 [GRCh38]
Chr11:46726608 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.2065C>T (p.Pro689Ser) single nucleotide variant not provided [RCV005080086] Chr11:46705765 [GRCh38]
Chr11:46727315 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.1787G>A (p.Arg596His) single nucleotide variant not provided [RCV005075022] Chr11:46705487 [GRCh38]
Chr11:46727037 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.1859A>G (p.Gln620Arg) single nucleotide variant not provided [RCV005154800] Chr11:46705559 [GRCh38]
Chr11:46727109 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.274G>A (p.Glu92Lys) single nucleotide variant not provided [RCV005078103] Chr11:46701620 [GRCh38]
Chr11:46723170 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.2120T>A (p.Leu707His) single nucleotide variant not provided [RCV005125943] Chr11:46705820 [GRCh38]
Chr11:46727370 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.1184G>T (p.Ser395Ile) single nucleotide variant not provided [RCV005134563] Chr11:46704884 [GRCh38]
Chr11:46726434 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.1496C>T (p.Pro499Leu) single nucleotide variant not provided [RCV005192447] Chr11:46705196 [GRCh38]
Chr11:46726746 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.2140GTGGAG[1] (p.714VE[1]) microsatellite not provided [RCV005163361] Chr11:46705839..46705844 [GRCh38]
Chr11:46727389..46727394 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.1641C>T (p.Thr547=) single nucleotide variant not provided [RCV005183115] Chr11:46705341 [GRCh38]
Chr11:46726891 [GRCh37]
Chr11:11p11.2		 likely benign
NM_024741.3(ZNF408):c.137A>C (p.Glu46Ala) single nucleotide variant not provided [RCV005151639] Chr11:46701483 [GRCh38]
Chr11:46723033 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.1117T>A (p.Phe373Ile) single nucleotide variant not provided [RCV005081320] Chr11:46704817 [GRCh38]
Chr11:46726367 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.978A>T (p.Gly326=) single nucleotide variant not provided [RCV005157030] Chr11:46704678 [GRCh38]
Chr11:46726228 [GRCh37]
Chr11:11p11.2		 likely benign
NM_024741.3(ZNF408):c.1032A>G (p.Gly344=) single nucleotide variant not provided [RCV005162206] Chr11:46704732 [GRCh38]
Chr11:46726282 [GRCh37]
Chr11:11p11.2		 likely benign
NM_024741.3(ZNF408):c.140C>G (p.Pro47Arg) single nucleotide variant not provided [RCV005182675] Chr11:46701486 [GRCh38]
Chr11:46723036 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.222G>T (p.Gly74=) single nucleotide variant not provided [RCV005186235] Chr11:46701568 [GRCh38]
Chr11:46723118 [GRCh37]
Chr11:11p11.2		 likely benign
NM_024741.3(ZNF408):c.1479A>G (p.Glu493=) single nucleotide variant not provided [RCV005159952] Chr11:46705179 [GRCh38]
Chr11:46726729 [GRCh37]
Chr11:11p11.2		 likely benign
NM_024741.3(ZNF408):c.265G>C (p.Gly89Arg) single nucleotide variant not provided [RCV005140979] Chr11:46701611 [GRCh38]
Chr11:46723161 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.53-17T>G single nucleotide variant not provided [RCV005141019] Chr11:46701382 [GRCh38]
Chr11:46722932 [GRCh37]
Chr11:11p11.2		 likely benign
NM_024741.3(ZNF408):c.1507C>A (p.Arg503=) single nucleotide variant not provided [RCV005075120] Chr11:46705207 [GRCh38]
Chr11:46726757 [GRCh37]
Chr11:11p11.2		 likely benign
NM_024741.3(ZNF408):c.350G>A (p.Trp117Ter) single nucleotide variant not provided [RCV005078445] Chr11:46702723 [GRCh38]
Chr11:46724273 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.198_201del (p.Leu67fs) deletion not provided [RCV005133768] Chr11:46701541..46701544 [GRCh38]
Chr11:46723091..46723094 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.52+16T>C single nucleotide variant not provided [RCV005082987] Chr11:46701115 [GRCh38]
Chr11:46722665 [GRCh37]
Chr11:11p11.2		 likely benign
NM_024741.3(ZNF408):c.1951C>T (p.Leu651Phe) single nucleotide variant not provided [RCV005157205] Chr11:46705651 [GRCh38]
Chr11:46727201 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.1821C>T (p.Tyr607=) single nucleotide variant not provided [RCV005182458] Chr11:46705521 [GRCh38]
Chr11:46727071 [GRCh37]
Chr11:11p11.2		 likely benign
NM_024741.3(ZNF408):c.598G>C (p.Ala200Pro) single nucleotide variant not provided [RCV005130562] Chr11:46703189 [GRCh38]
Chr11:46724739 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.389C>G (p.Thr130Ser) single nucleotide variant not provided [RCV005072682] Chr11:46702762 [GRCh38]
Chr11:46724312 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.653-1G>A single nucleotide variant not provided [RCV005126644] Chr11:46704352 [GRCh38]
Chr11:46725902 [GRCh37]
Chr11:11p11.2		 likely pathogenic
NM_024741.3(ZNF408):c.38A>G (p.Lys13Arg) single nucleotide variant not provided [RCV005112935] Chr11:46701085 [GRCh38]
Chr11:46722635 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.962A>G (p.Lys321Arg) single nucleotide variant not provided [RCV005127918] Chr11:46704662 [GRCh38]
Chr11:46726212 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.1980C>A (p.Asp660Glu) single nucleotide variant not provided [RCV005198430] Chr11:46705680 [GRCh38]
Chr11:46727230 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_024741.3(ZNF408):c.1224C>T (p.Pro408=) single nucleotide variant not provided [RCV005154827] Chr11:46704924 [GRCh38]
Chr11:46726474 [GRCh37]
Chr11:11p11.2		 likely benign
miRNA Target Status (No longer updated)

Predicted Target Of
Summary Value
Count of predictions:870
Count of miRNA genes:625
Interacting mature miRNAs:694
Transcripts:ENST00000311764, ENST00000526410, ENST00000527008, ENST00000531866, ENST00000534481
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
597019731GWAS1115805_Hfemoral neck bone mineral density QTL GWAS1115805 (human)5e-09bone mineralization trait (VT:0002896)bone mineral density (CMO:0001226)114670238746702388Human

Markers in Region
RH11922  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371146,727,286 - 46,727,413UniSTSGRCh37
Build 361146,683,862 - 46,683,989RGDNCBI36
Celera1146,875,717 - 46,875,844RGD
Cytogenetic Map11p11.2UniSTS
HuRef1146,433,325 - 46,433,452UniSTS
GeneMap99-GB4 RH Map11165.08UniSTS
NCBI RH Map11286.0UniSTS
RH36421  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371146,727,286 - 46,727,399UniSTSGRCh37
Build 361146,683,862 - 46,683,975RGDNCBI36
Celera1146,875,717 - 46,875,830RGD
Cytogenetic Map11p11.2UniSTS
HuRef1146,433,325 - 46,433,438UniSTS
GeneMap99-GB4 RH Map11165.08UniSTS
NCBI RH Map11285.5UniSTS


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
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2439 2788 2253 4973 1726 2351 6 624 1951 465 2269 7306 6472 53 3734 1 852 1744 1617 174 1

Sequence


Ensembl Acc Id: ENST00000311764   ⟹   ENSP00000309606
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1146,701,031 - 46,705,912 (+)Ensembl
Ensembl Acc Id: ENST00000526410
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1146,701,031 - 46,702,895 (+)Ensembl
Ensembl Acc Id: ENST00000527008
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1146,702,715 - 46,704,522 (+)Ensembl
Ensembl Acc Id: ENST00000531866
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1146,701,030 - 46,701,903 (+)Ensembl
Ensembl Acc Id: ENST00000534481
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1146,701,208 - 46,702,763 (+)Ensembl
RefSeq Acc Id: NM_001184751   ⟹   NP_001171680
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381146,701,031 - 46,705,912 (+)NCBI
GRCh371146,722,317 - 46,727,466 (+)RGD
Celera1146,870,748 - 46,875,897 (+)RGD
HuRef1146,428,356 - 46,433,505 (+)ENTREZGENE
CHM1_11146,721,054 - 46,725,876 (+)NCBI
T2T-CHM13v2.01146,857,047 - 46,861,916 (+)NCBI
Sequence:
RefSeq Acc Id: NM_024741   ⟹   NP_079017
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381146,701,031 - 46,705,912 (+)NCBI
GRCh371146,722,317 - 46,727,466 (+)RGD
Build 361146,678,944 - 46,684,037 (+)NCBI Archive
Celera1146,870,748 - 46,875,897 (+)RGD
HuRef1146,428,356 - 46,433,505 (+)ENTREZGENE
CHM1_11146,720,727 - 46,725,876 (+)NCBI
T2T-CHM13v2.01146,857,047 - 46,861,916 (+)NCBI
Sequence:
RefSeq Acc Id: NP_079017   ⟸   NM_024741
- Peptide Label: isoform 1
- UniProtKB: Q9H9D4 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001171680   ⟸   NM_001184751
- Peptide Label: isoform 2
- UniProtKB: B4DXY4 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000309606   ⟸   ENST00000311764
Protein Domains
C2H2-type

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9H9D4-F1-model_v2 AlphaFold Q9H9D4 1-720 view protein structure

Promoters
RGD ID:6789611
Promoter ID:HG_KWN:12767
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_001184751,   NM_004308,   NM_024741,   UC009YLE.1,   UC009YLF.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361146,678,586 - 46,679,237 (+)MPROMDB
RGD ID:7220197
Promoter ID:EPDNEW_H15845
Type:initiation region
Name:ZNF408_2
Description:zinc finger protein 408
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H15846  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381146,700,818 - 46,700,878EPDNEW
RGD ID:7220201
Promoter ID:EPDNEW_H15846
Type:initiation region
Name:ZNF408_1
Description:zinc finger protein 408
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H15845  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381146,701,031 - 46,701,091EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:20041 AgrOrtholog
COSMIC ZNF408 COSMIC
Ensembl Genes ENSG00000175213 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000311764 ENTREZGENE
  ENST00000311764.3 UniProtKB/Swiss-Prot
Gene3D-CATH 2.170.270.10 UniProtKB/Swiss-Prot
  Classic Zinc Finger UniProtKB/Swiss-Prot
GTEx ENSG00000175213 GTEx
HGNC ID HGNC:20041 ENTREZGENE
Human Proteome Map ZNF408 Human Proteome Map
InterPro PRDM17_PR-SET UniProtKB/Swiss-Prot
  SET_dom_sf UniProtKB/Swiss-Prot
  Zinc_finger UniProtKB/Swiss-Prot
  Znf_C2H2_sf UniProtKB/Swiss-Prot
  Znf_C2H2_type UniProtKB/Swiss-Prot
KEGG Report hsa:79797 UniProtKB/Swiss-Prot
NCBI Gene 79797 ENTREZGENE
OMIM 616454 OMIM
PANTHER C2H2-TYPE DOMAIN-CONTAINING PROTEIN UniProtKB/Swiss-Prot
  PR DOMAIN ZINC FINGER PROTEIN UniProtKB/Swiss-Prot
Pfam PRDM2_PR UniProtKB/Swiss-Prot
  zf-C2H2 UniProtKB/Swiss-Prot
PharmGKB PA134936136 PharmGKB
PROSITE ZINC_FINGER_C2H2_1 UniProtKB/Swiss-Prot
  ZINC_FINGER_C2H2_2 UniProtKB/Swiss-Prot
SMART ZnF_C2H2 UniProtKB/Swiss-Prot
Superfamily-SCOP SSF57667 UniProtKB/Swiss-Prot
UniProt B4DXY4 ENTREZGENE, UniProtKB/TrEMBL
  Q9H9D4 ENTREZGENE, UniProtKB/Swiss-Prot