MFRP (membrane frizzled-related protein) - Rat Genome Database

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Gene: MFRP (membrane frizzled-related protein) Homo sapiens
Analyze
Symbol: MFRP
Name: membrane frizzled-related protein
RGD ID: 1316695
HGNC Page HGNC:18121
Description: Predicted to be involved in embryo development. Predicted to act upstream of or within eye photoreceptor cell development; retina development in camera-type eye; and visual perception. Predicted to be located in membrane. Implicated in isolated microphthalmia 5; microphthalmia; nanophthalmos; and retinitis pigmentosa.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: C1q and TNF related 5; Complement C1q tumor necrosis factor-related protein 5; CTRP5; DKFZp586B0621; FLJ30570; MCOP5; membrane-type frizzled-related protein; MGC32938; NNO2; RD6
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3811119,338,942 - 119,346,705 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl11119,338,942 - 119,346,705 (-)EnsemblGRCh38hg38GRCh38
GRCh3711119,209,652 - 119,217,415 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3611118,716,836 - 118,722,580 (-)NCBINCBI36Build 36hg18NCBI36
Build 3411118,716,835 - 118,722,580NCBI
Celera11116,370,323 - 116,378,054 (-)NCBICelera
Cytogenetic Map11q23.3NCBI
HuRef11115,150,343 - 115,158,082 (-)NCBIHuRef
CHM1_111119,096,203 - 119,103,942 (-)NCBICHM1_1
T2T-CHM13v2.011119,359,579 - 119,367,342 (-)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

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. Gene therapy for retinitis pigmentosa caused by MFRP mutations: human phenotype and preliminary proof of concept. Dinculescu A, etal., Hum Gene Ther. 2012 Apr;23(4):367-76. doi: 10.1089/hum.2011.169. Epub 2012 Jan 26.
2. Mfrp, a gene encoding a frizzled related protein, is mutated in the mouse retinal degeneration 6. Kameya S, etal., Hum Mol Genet. 2002 Aug 1;11(16):1879-86.
3. Mutations in TULP1, NR2E3, and MFRP genes in Indian families with autosomal recessive retinitis pigmentosa. Kannabiran C, etal., Mol Vis. 2012;18:1165-74. Epub 2012 May 4.
4. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
5. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
6. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
7. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
8. Novel membrane frizzled-related protein gene mutation as cause of posterior microphthalmia resulting in high hyperopia with macular folds. Wasmann RA, etal., Acta Ophthalmol. 2014 May;92(3):276-81. doi: 10.1111/aos.12105. Epub 2013 Jun 7.
9. Identification of MFRP Mutations in Chinese Families with High Hyperopia. Xu Y, etal., Optom Vis Sci. 2016 Jan;93(1):19-26. doi: 10.1097/OPX.0000000000000751.
10. Compound heterozygosity for a novel and a recurrent MFRP gene mutation in a family with the nanophthalmos-retinitis pigmentosa complex. Zenteno JC, etal., Mol Vis. 2009 Sep 5;15:1794-8.
Additional References at PubMed
PMID:11263980   PMID:12477932   PMID:12944416   PMID:14702039   PMID:15976030   PMID:16123440   PMID:16123441   PMID:16352475   PMID:16442268   PMID:16600989   PMID:17122143   PMID:17167404  
PMID:18334955   PMID:18363166   PMID:18554571   PMID:18648522   PMID:18781223   PMID:19169412   PMID:20361016   PMID:21416382   PMID:22565643   PMID:22933837   PMID:23112574   PMID:23127749  
PMID:23143909   PMID:23378726   PMID:24531000   PMID:28511025   PMID:31264930   PMID:31266062   PMID:31992737   PMID:32118495   PMID:32703043   PMID:32996714   PMID:33203948   PMID:36178190  
PMID:36255095   PMID:37501562   PMID:38557281   PMID:38848879  


Genomics

Comparative Map Data
MFRP
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3811119,338,942 - 119,346,705 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl11119,338,942 - 119,346,705 (-)EnsemblGRCh38hg38GRCh38
GRCh3711119,209,652 - 119,217,415 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3611118,716,836 - 118,722,580 (-)NCBINCBI36Build 36hg18NCBI36
Build 3411118,716,835 - 118,722,580NCBI
Celera11116,370,323 - 116,378,054 (-)NCBICelera
Cytogenetic Map11q23.3NCBI
HuRef11115,150,343 - 115,158,082 (-)NCBIHuRef
CHM1_111119,096,203 - 119,103,942 (-)NCBICHM1_1
T2T-CHM13v2.011119,359,579 - 119,367,342 (-)NCBIT2T-CHM13v2.0
Mfrp
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39944,013,067 - 44,020,484 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl944,013,026 - 44,020,484 (+)EnsemblGRCm39 Ensembl
GRCm38944,101,770 - 44,109,187 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl944,101,729 - 44,109,187 (+)EnsemblGRCm38mm10GRCm38
MGSCv37943,909,853 - 43,917,270 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36943,909,925 - 43,917,270 (+)NCBIMGSCv36mm8
Celera941,359,597 - 41,367,008 (+)NCBICelera
Cytogenetic Map9A5.1NCBI
cM Map924.6NCBI
Mfrp
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8853,342,483 - 53,347,696 (+)NCBIGRCr8
mRatBN7.2844,445,636 - 44,450,859 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl844,445,697 - 44,450,859 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx849,943,933 - 49,949,098 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0848,222,643 - 48,227,808 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0846,090,263 - 46,095,426 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0848,437,720 - 48,443,421 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl848,437,918 - 48,443,421 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0847,053,980 - 47,059,250 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4847,084,056 - 47,089,218 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1847,092,971 - 47,097,611 (+)NCBI
Celera844,032,894 - 44,038,056 (+)NCBICelera
Cytogenetic Map8q22NCBI
Mfrp
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541220,421,935 - 20,426,760 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495541220,421,935 - 20,426,760 (-)NCBIChiLan1.0ChiLan1.0
MFRP
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v29120,046,694 - 120,054,325 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan111121,152,657 - 121,157,778 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v011114,179,998 - 114,187,716 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.111118,107,317 - 118,115,050 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl11118,107,317 - 118,115,050 (-)Ensemblpanpan1.1panPan2
MFRP
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1514,555,619 - 14,561,577 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl514,556,065 - 14,561,623 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha514,609,393 - 14,614,363 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0514,499,276 - 14,504,240 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl514,499,485 - 14,504,210 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1514,637,560 - 14,642,522 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0514,541,551 - 14,546,518 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0514,581,669 - 14,586,636 (+)NCBIUU_Cfam_GSD_1.0
Mfrp
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404947101,350,829 - 101,355,821 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365424,272,264 - 4,277,252 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365424,272,250 - 4,277,231 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
MFRP
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl946,550,315 - 46,556,077 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1946,550,383 - 46,556,305 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2951,584,361 - 51,590,860 (-)NCBISscrofa10.2Sscrofa10.2susScr3
MFRP
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11110,720,520 - 110,728,529 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1110,720,530 - 110,725,483 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604315,305,601 - 15,314,524 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Mfrp
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462478414,710,042 - 14,714,715 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462478414,709,834 - 14,714,927 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in MFRP
810 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_031433.4(MFRP):c.523C>T (p.Gln175Ter) single nucleotide variant Isolated microphthalmia 5 [RCV001332642]|Nanophthalmos 2 [RCV000004732]|not provided [RCV000347105] Chr11:119345538 [GRCh38]
Chr11:119216248 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_031433.4(MFRP):c.545T>C (p.Ile182Thr) single nucleotide variant Nanophthalmos 2 [RCV000004734] Chr11:119345516 [GRCh38]
Chr11:119216226 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_031433.4(MFRP):c.498dup (p.Asn167fs) duplication Isolated microphthalmia 5 [RCV000004735]|Retinal dystrophy [RCV004814824]|not provided [RCV000522039] Chr11:119345562..119345563 [GRCh38]
Chr11:119216272..119216273 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_031433.4(MFRP):c.492C>T (p.Tyr164=) single nucleotide variant Isolated microphthalmia 5 [RCV001511281]|Isolated microphthalmia 6 [RCV000267889]|Retinal degeneration [RCV000381081]|not provided [RCV000132684]|not specified [RCV000153497] Chr11:119345569 [GRCh38]
Chr11:119216279 [GRCh37]
Chr11:11q23.3		 benign|likely benign
NM_031433.4(MFRP):c.1150dup (p.His384fs) duplication Isolated microphthalmia 5 [RCV000161910]|Nanophthalmos 2 [RCV000004731]|Retinal dystrophy [RCV004814822] Chr11:119342977..119342978 [GRCh38]
Chr11:119213687..119213688 [GRCh37]
Chr11:11q23.3		 pathogenic|not provided
NM_031433.4(MFRP):c.498del (p.Asn167fs) deletion Isolated microphthalmia 5 [RCV000161911]|MFRP-related disorder [RCV004532288]|Nanophthalmos 2 [RCV000004733]|Retinal dystrophy [RCV004814823]|not provided [RCV001579996] Chr11:119345563 [GRCh38]
Chr11:119216273 [GRCh37]
Chr11:11q23.3		 pathogenic|not provided
GRCh38/hg38 11q23.3-25(chr11:116851395-134998513)x3 copy number gain See cases [RCV000050331] Chr11:116851395..134998513 [GRCh38]
Chr11:116722111..134868407 [GRCh37]
Chr11:116227321..134373617 [NCBI36]
Chr11:11q23.3-25		 pathogenic
GRCh38/hg38 11q23.2-23.3(chr11:113444446-120648921)x3 copy number gain See cases [RCV000050627] Chr11:113444446..120648921 [GRCh38]
Chr11:113315168..120519630 [GRCh37]
Chr11:112820378..120024840 [NCBI36]
Chr11:11q23.2-23.3		 pathogenic
GRCh38/hg38 11q23.3-25(chr11:118789765-134998513)x3 copy number gain See cases [RCV000051213] Chr11:118789765..134998513 [GRCh38]
Chr11:118660474..134868407 [GRCh37]
Chr11:118165684..134373617 [NCBI36]
Chr11:11q23.3-25		 pathogenic
GRCh38/hg38 11q23.3-25(chr11:119215032-134998654)x1 copy number loss See cases [RCV000052715] Chr11:119215032..134998654 [GRCh38]
Chr11:119085742..134868548 [GRCh37]
Chr11:118590952..134373758 [NCBI36]
Chr11:11q23.3-25		 pathogenic
GRCh38/hg38 11q22.1-25(chr11:100348599-135040246)x3 copy number gain See cases [RCV000053638] Chr11:100348599..135040246 [GRCh38]
Chr11:100219331..134910140 [GRCh37]
Chr11:99724541..134415350 [NCBI36]
Chr11:11q22.1-25		 pathogenic
NM_031433.4(MFRP):c.1124+11C>G single nucleotide variant Isolated microphthalmia 5 [RCV002054909]|Isolated microphthalmia 6 [RCV000373798]|Retinal degeneration [RCV000319303]|not provided [RCV000058871] Chr11:119343805 [GRCh38]
Chr11:119214515 [GRCh37]
Chr11:11q23.3		 benign|likely benign|uncertain significance|not provided
NM_031433.4(MFRP):c.1255+33_1255+34del deletion not provided [RCV000058872] Chr11:119342839..119342840 [GRCh38]
Chr11:119213549..119213550 [GRCh37]
Chr11:11q23.3		 not provided
NM_031433.4(MFRP):c.290C>T (p.Pro97Leu) single nucleotide variant Isolated microphthalmia 5 [RCV001509625]|not provided [RCV000058873] Chr11:119345910 [GRCh38]
Chr11:119216620 [GRCh37]
Chr11:11q23.3		 benign|not provided
NM_031433.4(MFRP):c.55-17_55-15dup duplication Isolated microphthalmia 5 [RCV001518941]|Retinal degeneration [RCV000294258]|not provided [RCV000058874] Chr11:119346388..119346389 [GRCh38]
Chr11:119217098..119217099 [GRCh37]
Chr11:11q23.3		 benign|likely benign|not provided
NM_031433.4(MFRP):c.975+18T>C single nucleotide variant Isolated microphthalmia 5 [RCV001523204]|not provided [RCV000058875] Chr11:119344297 [GRCh38]
Chr11:119215007 [GRCh37]
Chr11:11q23.3		 benign|not provided
NM_001278431.2(C1QTNF5):c.489C>G (p.Ser163Arg) single nucleotide variant Late-onset retinal degeneration [RCV000002208]|Retinal dystrophy [RCV001074679]|not provided [RCV001245416] Chr11:119339574 [GRCh38]
Chr11:119210284 [GRCh37]
Chr11:11q23.3		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_032015.4(RNF26):c.985C>T (p.Pro329Ser) single nucleotide variant Malignant melanoma [RCV000069190] Chr11:119336107 [GRCh38]
Chr11:119206817 [GRCh37]
Chr11:118712027 [NCBI36]
Chr11:11q23.3		 not provided
NM_031433.4(MFRP):c.932C>T (p.Thr311Ile) single nucleotide variant Isolated microphthalmia 5 [RCV001303798] Chr11:119344358 [GRCh38]
Chr11:119215068 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.746G>A (p.Trp249Ter) single nucleotide variant Isolated microphthalmia 5 [RCV000761498]|not provided [RCV000171201] Chr11:119344900 [GRCh38]
Chr11:119215610 [GRCh37]
Chr11:11q23.3		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|no classifications from unflagged records
NM_031433.4(MFRP):c.574G>C (p.Glu192Gln) single nucleotide variant Isolated microphthalmia 5 [RCV003987399]|not provided [RCV000171202] Chr11:119345487 [GRCh38]
Chr11:119216197 [GRCh37]
Chr11:11q23.3		 likely pathogenic|no classifications from unflagged records
NM_031433.4(MFRP):c.437G>A (p.Gly146Asp) single nucleotide variant Isolated microphthalmia 5 [RCV001996404] Chr11:119345624 [GRCh38]
Chr11:119216334 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.773-9C>T single nucleotide variant Isolated microphthalmia 5 [RCV000877972]|Isolated microphthalmia 6 [RCV000340484]|MFRP-related disorder [RCV004734801]|Retinal degeneration [RCV000285258]|not provided [RCV001729431]|not specified [RCV000179981] Chr11:119344766 [GRCh38]
Chr11:119215476 [GRCh37]
Chr11:11q23.3		 benign|likely benign|uncertain significance
NM_031433.4(MFRP):c.641+9C>T single nucleotide variant Isolated microphthalmia 5 [RCV000878016]|MFRP-related disorder [RCV004537476]|not provided [RCV001729430]|not specified [RCV000179000] Chr11:119345411 [GRCh38]
Chr11:119216121 [GRCh37]
Chr11:11q23.3		 benign|likely benign
NM_031433.4(MFRP):c.1387+20G>A single nucleotide variant Isolated microphthalmia 5 [RCV001493930] Chr11:119342576 [GRCh38]
Chr11:119213286 [GRCh37]
Chr11:11q23.3		 likely benign
NM_031433.4(MFRP):c.38C>A (p.Ala13Glu) single nucleotide variant not provided [RCV000173534] Chr11:119346476 [GRCh38]
Chr11:119217186 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.1635G>A (p.Ala545=) single nucleotide variant Isolated microphthalmia 5 [RCV000878667]|Retinal degeneration [RCV000399455]|not provided [RCV001726019]|not specified [RCV000174606] Chr11:119341653 [GRCh38]
Chr11:119212363 [GRCh37]
Chr11:11q23.3		 benign|likely benign
NM_001278431.2(C1QTNF5):c.294C>T (p.Cys98=) single nucleotide variant Isolated microphthalmia 5 [RCV001106721]|Late-onset retinal degeneration [RCV001106720]|not provided [RCV001521423]|not specified [RCV000174932] Chr11:119339769 [GRCh38]
Chr11:119210479 [GRCh37]
Chr11:11q23.3		 benign|likely benign|uncertain significance
GRCh38/hg38 11q23.3-25(chr11:116851372-134998526)x3 copy number gain See cases [RCV000134064] Chr11:116851372..134998526 [GRCh38]
Chr11:116722088..134868420 [GRCh37]
Chr11:116227298..134373630 [NCBI36]
Chr11:11q23.3-25		 pathogenic
GRCh38/hg38 11q23.2-25(chr11:112864326-131189315)x3 copy number gain See cases [RCV000137582] Chr11:112864326..131189315 [GRCh38]
Chr11:112832130..131059210 [GRCh37]
Chr11:112240259..130564420 [NCBI36]
Chr11:11q23.2-25		 pathogenic
GRCh38/hg38 11q23.3-25(chr11:116868935-135075271)x3 copy number gain See cases [RCV000137453] Chr11:116868935..135075271 [GRCh38]
Chr11:116739651..134945165 [GRCh37]
Chr11:116244861..134450377 [NCBI36]
Chr11:11q23.3-25		 pathogenic|conflicting data from submitters
GRCh38/hg38 11q23.3-24.2(chr11:117333952-127709156)x3 copy number gain See cases [RCV000139362] Chr11:117333952..127709156 [GRCh38]
Chr11:117204668..127579051 [GRCh37]
Chr11:116709878..127084261 [NCBI36]
Chr11:11q23.3-24.2		 pathogenic
GRCh38/hg38 11q23.3-25(chr11:116851395-134998513)x3 copy number gain See cases [RCV000148276] Chr11:116851395..134998513 [GRCh38]
Chr11:116722111..134868407 [GRCh37]
Chr11:116227321..134373617 [NCBI36]
Chr11:11q23.3-25		 pathogenic
NM_031433.4(MFRP):c.629G>T (p.Gly210Val) single nucleotide variant Isolated microphthalmia 5 [RCV000878012]|Retinal degeneration [RCV000393840]|not provided [RCV001532669]|not specified [RCV000153495] Chr11:119345432 [GRCh38]
Chr11:119216142 [GRCh37]
Chr11:11q23.3		 benign|likely benign|uncertain significance
NM_031433.4(MFRP):c.540T>C (p.His180=) single nucleotide variant Isolated microphthalmia 5 [RCV001511280]|Isolated microphthalmia 6 [RCV000311491]|Retinal degeneration [RCV000276256]|not provided [RCV004703433]|not specified [RCV000153496] Chr11:119345521 [GRCh38]
Chr11:119216231 [GRCh37]
Chr11:11q23.3		 benign|likely benign
NM_031433.4(MFRP):c.406G>A (p.Val136Met) single nucleotide variant Isolated microphthalmia 5 [RCV001511282]|Isolated microphthalmia 6 [RCV000279501]|Retinal degeneration [RCV000374001]|not provided [RCV004704995]|not specified [RCV000153499] Chr11:119345794 [GRCh38]
Chr11:119216504 [GRCh37]
Chr11:11q23.3		 benign|likely benign
NM_031433.4(MFRP):c.1014C>A (p.Ser338Arg) single nucleotide variant Isolated microphthalmia 5 [RCV000691291]|Late-onset retinal degeneration [RCV001104223]|MFRP-related disorder [RCV004532728]|Retinal degeneration [RCV000388917]|Retinal dystrophy [RCV004815228]|not provided [RCV000153493] Chr11:119343926 [GRCh38]
Chr11:119214636 [GRCh37]
Chr11:11q23.3		 likely benign|uncertain significance
NM_031433.4(MFRP):c.950A>G (p.Tyr317Cys) single nucleotide variant Inborn genetic diseases [RCV002516081]|Isolated microphthalmia 5 [RCV001317212]|not provided [RCV000153494] Chr11:119344340 [GRCh38]
Chr11:119215050 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.163C>T (p.Arg55Cys) single nucleotide variant Inborn genetic diseases [RCV003162623]|Isolated microphthalmia 5 [RCV001044537]|not provided [RCV000153500] Chr11:119346154 [GRCh38]
Chr11:119216864 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.951C>A (p.Tyr317Ter) single nucleotide variant Isolated microphthalmia 5 [RCV000161912] Chr11:119344339 [GRCh38]
Chr11:119215049 [GRCh37]
Chr11:11q23.3		 pathogenic|not provided
NM_031433.4(MFRP):c.1622_1625del (p.Val541fs) microsatellite Isolated microphthalmia 5 [RCV000161913]|not provided [RCV003231347] Chr11:119341663..119341666 [GRCh38]
Chr11:119212373..119212376 [GRCh37]
Chr11:11q23.3		 pathogenic|uncertain significance|not provided
NM_031433.4(MFRP):c.201G>A (p.Trp67Ter) single nucleotide variant Isolated microphthalmia 5 [RCV000161914]|Retinal dystrophy [RCV004815251]|not provided [RCV001723730] Chr11:119346116 [GRCh38]
Chr11:119216826 [GRCh37]
Chr11:11q23.3		 pathogenic|not provided
NM_031433.4(MFRP):c.491_492insT (p.Asn167fs) insertion Isolated microphthalmia 5 [RCV000161915]|Isolated microphthalmia 5 [RCV002498801]|Retinal dystrophy [RCV004815252]|not provided [RCV000727643] Chr11:119345569..119345570 [GRCh38]
Chr11:119216279..119216280 [GRCh37]
Chr11:11q23.3		 pathogenic|likely pathogenic|not provided
NM_031433.4(MFRP):c.1549C>T (p.Arg517Trp) single nucleotide variant Isolated microphthalmia 5 [RCV000161916] Chr11:119341739 [GRCh38]
Chr11:119212449 [GRCh37]
Chr11:11q23.3		 pathogenic|uncertain significance|not provided
NM_031433.4(MFRP):c.355A>G (p.Ile119Val) single nucleotide variant Isolated microphthalmia 5 [RCV000877864]|Isolated microphthalmia 5 [RCV002492783]|Late-onset retinal degeneration [RCV001107826]|Retinal degeneration [RCV000334278]|not provided [RCV004705007]|not specified [RCV000178370] Chr11:119345845 [GRCh38]
Chr11:119216555 [GRCh37]
Chr11:11q23.3		 benign|likely benign
NM_031433.4(MFRP):c.315G>A (p.Leu105=) single nucleotide variant Isolated microphthalmia 5 [RCV001515099]|not provided [RCV000178371] Chr11:119345885 [GRCh38]
Chr11:119216595 [GRCh37]
Chr11:11q23.3		 benign|uncertain significance
NM_031433.4(MFRP):c.506A>G (p.His169Arg) single nucleotide variant Isolated microphthalmia 5 [RCV001359708]|not provided [RCV000178999] Chr11:119345555 [GRCh38]
Chr11:119216265 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.770G>A (p.Arg257His) single nucleotide variant Isolated microphthalmia 5 [RCV000555680]|Late-onset retinal degeneration [RCV001107090]|Retinal degeneration [RCV000401047]|not provided [RCV001675659]|not specified [RCV000179544] Chr11:119344876 [GRCh38]
Chr11:119215586 [GRCh37]
Chr11:11q23.3		 benign|likely benign
NM_031433.4(MFRP):c.898+4C>T single nucleotide variant Isolated microphthalmia 5 [RCV001041282]|not provided [RCV000179982] Chr11:119344628 [GRCh38]
Chr11:119215338 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.159T>C (p.Gly53=) single nucleotide variant Isolated microphthalmia 5 [RCV001479559]|MFRP-related disorder [RCV004537430]|Retinal degeneration [RCV000373614]|not provided [RCV000177383] Chr11:119346158 [GRCh38]
Chr11:119216868 [GRCh37]
Chr11:11q23.3		 likely benign|uncertain significance
NM_031433.4(MFRP):c.160C>G (p.Arg54Gly) single nucleotide variant Isolated microphthalmia 5 [RCV000877821]|Late-onset retinal degeneration [RCV001107272]|Retinal degeneration [RCV000319007]|not specified [RCV000177384] Chr11:119346157 [GRCh38]
Chr11:119216867 [GRCh37]
Chr11:11q23.3		 benign|likely benign|conflicting interpretations of pathogenicity
NM_001278431.2(C1QTNF5):c.-2C>T single nucleotide variant Isolated microphthalmia 5 [RCV001103728]|Isolated microphthalmia 6 [RCV000319969]|Late-onset retinal degeneration [RCV000262525] Chr11:119340399 [GRCh38]
Chr11:119211109 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.897G>A (p.Ser299=) single nucleotide variant Isolated microphthalmia 5 [RCV000317756]|Late-onset retinal degeneration [RCV001104028]|Retinal degeneration [RCV000262640] Chr11:119344633 [GRCh38]
Chr11:119215343 [GRCh37]
Chr11:11q23.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_031433.4(MFRP):c.190C>T (p.Arg64Cys) single nucleotide variant Inborn genetic diseases [RCV003258750]|Isolated microphthalmia 5 [RCV000263849]|Late-onset retinal degeneration [RCV001107271]|Retinal degeneration [RCV000376626] Chr11:119346127 [GRCh38]
Chr11:119216837 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.958C>T (p.Gln320Ter) single nucleotide variant Isolated microphthalmia 5 [RCV000191105] Chr11:119344332 [GRCh38]
Chr11:119215042 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_031433.4(MFRP):c.796C>T (p.Arg266Cys) single nucleotide variant Isolated microphthalmia 5 [RCV000328679]|Late-onset retinal degeneration [RCV001104031]|Retinal degeneration [RCV000292299]|not provided [RCV000393490] Chr11:119344734 [GRCh38]
Chr11:119215444 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.899-2A>G single nucleotide variant Isolated microphthalmia 5 [RCV000578235] Chr11:119344393 [GRCh38]
Chr11:119215103 [GRCh37]
Chr11:11q23.3		 likely pathogenic
NM_031433.4(MFRP):c.456G>C (p.Arg152Ser) single nucleotide variant Isolated microphthalmia 5 [RCV001107166]|Isolated microphthalmia 6 [RCV000377554]|Late-onset retinal degeneration [RCV000322896] Chr11:119345605 [GRCh38]
Chr11:119216315 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.271+10C>T single nucleotide variant Isolated microphthalmia 5 [RCV000365306]|Late-onset retinal degeneration [RCV001104512]|Retinal degeneration [RCV000310727] Chr11:119346036 [GRCh38]
Chr11:119216746 [GRCh37]
Chr11:11q23.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_031433.4(MFRP):c.773-8A>C single nucleotide variant Isolated microphthalmia 5 [RCV000878515]|Late-onset retinal degeneration [RCV001104331]|Retinal degeneration [RCV000343613] Chr11:119344765 [GRCh38]
Chr11:119215475 [GRCh37]
Chr11:11q23.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001278431.2(C1QTNF5):c.644T>C (p.Ile215Thr) single nucleotide variant Isolated microphthalmia 5 [RCV000283460]|Late-onset retinal degeneration [RCV001103633]|Retinal degeneration [RCV000399727]|not provided [RCV001295070] Chr11:119339419 [GRCh38]
Chr11:119210129 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001278431.2(C1QTNF5):c.-32A>T single nucleotide variant Isolated microphthalmia 5 [RCV000285074]|Late-onset retinal degeneration [RCV001103729]|Retinal degeneration [RCV000377178] Chr11:119340429 [GRCh38]
Chr11:119211139 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001278431.2(C1QTNF5):c.*34C>G single nucleotide variant Isolated microphthalmia 5 [RCV000337306]|Late-onset retinal degeneration [RCV001108788]|Retinal degeneration [RCV000279798] Chr11:119339297 [GRCh38]
Chr11:119210007 [GRCh37]
Chr11:11q23.3		 benign|likely benign|uncertain significance
NM_031433.4(MFRP):c.1387+3G>A single nucleotide variant Isolated microphthalmia 5 [RCV001511278]|Isolated microphthalmia 6 [RCV000322794]|Retinal degeneration [RCV000267815]|not provided [RCV001651256]|not specified [RCV000244406] Chr11:119342593 [GRCh38]
Chr11:119213303 [GRCh37]
Chr11:11q23.3		 benign|likely benign
NM_031433.4(MFRP):c.195C>T (p.Phe65=) single nucleotide variant Isolated microphthalmia 5 [RCV000951796]|Isolated microphthalmia 6 [RCV000307301]|Retinal degeneration [RCV000270817]|not provided [RCV001532670] Chr11:119346122 [GRCh38]
Chr11:119216832 [GRCh37]
Chr11:11q23.3		 benign|likely benign|uncertain significance
NM_031433.4(MFRP):c.360C>A (p.Thr120=) single nucleotide variant Isolated microphthalmia 5 [RCV001494302] Chr11:119345840 [GRCh38]
Chr11:119216550 [GRCh37]
Chr11:11q23.3		 likely benign
NM_031433.4(MFRP):c.1374G>T (p.Leu458Phe) single nucleotide variant Isolated microphthalmia 5 [RCV000877886]|Retinal degeneration [RCV000358935]|not provided [RCV002292500]|not specified [RCV000252407] Chr11:119342609 [GRCh38]
Chr11:119213319 [GRCh37]
Chr11:11q23.3		 benign|likely benign
GRCh37/hg19 11q23.3(chr11:115215434-120559928)x3 copy number gain See cases [RCV000240308] Chr11:115215434..120559928 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_031433.4(MFRP):c.191G>A (p.Arg64His) single nucleotide variant Isolated microphthalmia 5 [RCV000530543]|Isolated microphthalmia 6 [RCV000322544]|MFRP-related disorder [RCV004734964]|Retinal degeneration [RCV000267405] Chr11:119346126 [GRCh38]
Chr11:119216836 [GRCh37]
Chr11:11q23.3		 likely benign|uncertain significance
NM_031433.4(MFRP):c.861C>T (p.Asp287=) single nucleotide variant Isolated microphthalmia 5 [RCV000277786]|Late-onset retinal degeneration [RCV001104029]|Retinal degeneration [RCV000353846] Chr11:119344669 [GRCh38]
Chr11:119215379 [GRCh37]
Chr11:11q23.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_031433.4(MFRP):c.1506C>T (p.Ser502=) single nucleotide variant Isolated microphthalmia 5 [RCV001107552]|Late-onset retinal degeneration [RCV001106887]|Retinal degeneration [RCV000301036] Chr11:119341866 [GRCh38]
Chr11:119212576 [GRCh37]
Chr11:11q23.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_031433.4(MFRP):c.705C>T (p.Phe235=) single nucleotide variant Isolated microphthalmia 5 [RCV000355554]|Late-onset retinal degeneration [RCV001107091]|Retinal degeneration [RCV000300666] Chr11:119344941 [GRCh38]
Chr11:119215651 [GRCh37]
Chr11:11q23.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_031433.4(MFRP):c.-88C>T single nucleotide variant Isolated microphthalmia 6 [RCV000355624]|Retinal degeneration [RCV000300755]|not provided [RCV001672441] Chr11:119346601 [GRCh38]
Chr11:119217311 [GRCh37]
Chr11:11q23.3		 benign|likely benign
NM_031433.4(MFRP):c.909G>C (p.Gly303=) single nucleotide variant Isolated microphthalmia 5 [RCV000357034]|Late-onset retinal degeneration [RCV001107646]|Retinal degeneration [RCV000302185] Chr11:119344381 [GRCh38]
Chr11:119215091 [GRCh37]
Chr11:11q23.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_001278431.2(C1QTNF5):c.-48G>C single nucleotide variant Isolated microphthalmia 6 [RCV000345340]|Retinal degeneration [RCV000288073] Chr11:119340699 [GRCh38]
Chr11:119211409 [GRCh37]
Chr11:11q23.3		 likely benign|uncertain significance
NM_001278431.2(C1QTNF5):c.415G>A (p.Val139Ile) single nucleotide variant Isolated microphthalmia 5 [RCV000362385]|Late-onset retinal degeneration [RCV001103635]|Retinal degeneration [RCV000305385]|not provided [RCV001345266] Chr11:119339648 [GRCh38]
Chr11:119210358 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.*235G>A single nucleotide variant Isolated microphthalmia 5 [RCV000378383]|Late-onset retinal degeneration [RCV001107446]|Retinal degeneration [RCV000321456]|not provided [RCV004705209] Chr11:119341313 [GRCh38]
Chr11:119212023 [GRCh37]
Chr11:11q23.3		 benign|likely benign|uncertain significance
NM_031433.4(MFRP):c.954G>A (p.Leu318=) single nucleotide variant Isolated microphthalmia 5 [RCV001511279]|Isolated microphthalmia 6 [RCV000360922]|Retinal degeneration [RCV000306213]|not provided [RCV001530793] Chr11:119344336 [GRCh38]
Chr11:119215046 [GRCh37]
Chr11:11q23.3		 benign|likely benign
NM_031433.4(MFRP):c.*61G>T single nucleotide variant Isolated microphthalmia 5 [RCV000293849]|Late-onset retinal degeneration [RCV001103825]|Retinal degeneration [RCV000385581] Chr11:119341487 [GRCh38]
Chr11:119212197 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.1516-4G>A single nucleotide variant Isolated microphthalmia 5 [RCV001106886]|Late-onset retinal degeneration [RCV001106885]|Retinal degeneration [RCV000406772] Chr11:119341776 [GRCh38]
Chr11:119212486 [GRCh37]
Chr11:11q23.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_031433.4(MFRP):c.941C>A (p.Thr314Asn) single nucleotide variant Inborn genetic diseases [RCV003258749]|Isolated microphthalmia 5 [RCV001059723]|Late-onset retinal degeneration [RCV001107645]|Retinal degeneration [RCV000408196] Chr11:119344349 [GRCh38]
Chr11:119215059 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001278431.2(C1QTNF5):c.394G>A (p.Glu132Lys) single nucleotide variant Isolated microphthalmia 5 [RCV000308722]|Late-onset retinal degeneration [RCV001105572]|Retinal degeneration [RCV000391979]|not provided [RCV001859799] Chr11:119339669 [GRCh38]
Chr11:119210379 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.971A>G (p.Gln324Arg) single nucleotide variant Inborn genetic diseases [RCV002520677]|Isolated microphthalmia 5 [RCV001038566]|Late-onset retinal degeneration [RCV001106997]|Retinal degeneration [RCV000345851]|not provided [RCV000426299] Chr11:119344319 [GRCh38]
Chr11:119215029 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001278431.2(C1QTNF5):c.-199G>A single nucleotide variant Retinal degeneration [RCV000314159] Chr11:119340850 [GRCh38]
Chr11:119211560 [GRCh37]
Chr11:11q23.3		 likely benign
NM_031433.4(MFRP):c.-31G>A single nucleotide variant Isolated microphthalmia 6 [RCV000400633]|Retinal degeneration [RCV000347276]|not provided [RCV004705210] Chr11:119346544 [GRCh38]
Chr11:119217254 [GRCh37]
Chr11:11q23.3		 likely benign
NM_031433.4(MFRP):c.1366G>A (p.Gly456Ser) single nucleotide variant Isolated microphthalmia 5 [RCV001104217]|Late-onset retinal degeneration [RCV001103939]|Retinal degeneration [RCV000264213] Chr11:119342617 [GRCh38]
Chr11:119213327 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.63C>A (p.Phe21Leu) single nucleotide variant Isolated microphthalmia 5 [RCV001107919]|Late-onset retinal degeneration [RCV001107918]|Retinal degeneration [RCV000279015] Chr11:119346366 [GRCh38]
Chr11:119217076 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.303C>T (p.Ser101=) single nucleotide variant Isolated microphthalmia 5 [RCV001104511]|Isolated microphthalmia 6 [RCV000393049]|Late-onset retinal degeneration [RCV000349553] Chr11:119345897 [GRCh38]
Chr11:119216607 [GRCh37]
Chr11:11q23.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_031433.4(MFRP):c.*483T>C single nucleotide variant Isolated microphthalmia 5 [RCV001107444]|Late-onset retinal degeneration [RCV001106807]|Retinal degeneration [RCV000299454] Chr11:119341065 [GRCh38]
Chr11:119211775 [GRCh37]
Chr11:11q23.3		 likely benign|uncertain significance
NM_031433.4(MFRP):c.335C>T (p.Thr112Met) single nucleotide variant Inborn genetic diseases [RCV003352828]|Isolated microphthalmia 5 [RCV000313442]|Late-onset retinal degeneration [RCV001102587]|Retinal degeneration [RCV000390242] Chr11:119345865 [GRCh38]
Chr11:119216575 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001278431.2(C1QTNF5):c.341G>A (p.Arg114Gln) single nucleotide variant Isolated microphthalmia 5 [RCV001106719]|Late-onset retinal degeneration [RCV001105577]|Retinal degeneration [RCV000365765]|not provided [RCV001518803] Chr11:119339722 [GRCh38]
Chr11:119210432 [GRCh37]
Chr11:11q23.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_031433.4(MFRP):c.1475T>A (p.Ile492Asn) single nucleotide variant Isolated microphthalmia 5 [RCV000271413]|Late-onset retinal degeneration [RCV001107553]|Retinal degeneration [RCV000358227] Chr11:119341897 [GRCh38]
Chr11:119212607 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.505C>T (p.His169Tyr) single nucleotide variant Isolated microphthalmia 5 [RCV000271495]|Late-onset retinal degeneration [RCV001104421]|Retinal degeneration [RCV000366207] Chr11:119345556 [GRCh38]
Chr11:119216266 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.*652G>A single nucleotide variant Isolated microphthalmia 5 [RCV000260608]|Late-onset retinal degeneration [RCV001106804]|Retinal degeneration [RCV000371130] Chr11:119340896 [GRCh38]
Chr11:119211606 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001278431.2(C1QTNF5):c.244C>A (p.Pro82Thr) single nucleotide variant Isolated microphthalmia 5 [RCV000273405]|Late-onset retinal degeneration [RCV001106722] Chr11:119339819 [GRCh38]
Chr11:119210529 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_015645.5(C1QTNF5):c.-2680G>A single nucleotide variant Retinal degeneration [RCV000307664] Chr11:119346557 [GRCh38]
Chr11:119217267 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001278431.2(C1QTNF5):c.128G>A (p.Ser43Asn) single nucleotide variant Isolated microphthalmia 5 [RCV000316651]|Late-onset retinal degeneration [RCV001108888]|Retinal degeneration [RCV000276993] Chr11:119340270 [GRCh38]
Chr11:119210980 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.*198G>C single nucleotide variant Isolated microphthalmia 5 [RCV000325030]|Late-onset retinal degeneration [RCV001107449]|Retinal degeneration [RCV000267575] Chr11:119341350 [GRCh38]
Chr11:119212060 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.1106C>T (p.Ala369Val) single nucleotide variant Isolated microphthalmia 5 [RCV000315689]|Late-onset retinal degeneration [RCV001104220]|Retinal degeneration [RCV000279274] Chr11:119343834 [GRCh38]
Chr11:119214544 [GRCh37]
Chr11:11q23.3		 uncertain significance
GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3 copy number gain MISSED ABORTION [RCV002282973] Chr11:32799481..134938470 [GRCh37]
Chr11:11p13-q25		 pathogenic
NM_031433.4(MFRP):c.*178C>T single nucleotide variant Isolated microphthalmia 5 [RCV001103821]|Late-onset retinal degeneration [RCV000382293] Chr11:119341370 [GRCh38]
Chr11:119212080 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001278431.2(C1QTNF5):c.*158C>A single nucleotide variant Isolated microphthalmia 5 [RCV001108787]|Late-onset retinal degeneration [RCV001108786]|Retinal degeneration [RCV000293776] Chr11:119339173 [GRCh38]
Chr11:119209883 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001278431.2(C1QTNF5):c.-165G>T single nucleotide variant Isolated microphthalmia 5 [RCV000393540]|Late-onset retinal degeneration [RCV001105679]|Retinal degeneration [RCV000348972] Chr11:119340816 [GRCh38]
Chr11:119211526 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.*9C>G single nucleotide variant Isolated microphthalmia 5 [RCV001105771]|Late-onset retinal degeneration [RCV000351128] Chr11:119341539 [GRCh38]
Chr11:119212249 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.583G>A (p.Ala195Thr) single nucleotide variant Isolated microphthalmia 5 [RCV001065992]|Isolated microphthalmia 6 [RCV000370794]|Late-onset retinal degeneration [RCV000297293] Chr11:119345478 [GRCh38]
Chr11:119216188 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.1560G>C (p.Leu520=) single nucleotide variant Isolated microphthalmia 5 [RCV001106884]|Isolated microphthalmia 6 [RCV000336063]|Late-onset retinal degeneration [RCV000297375] Chr11:119341728 [GRCh38]
Chr11:119212438 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001278431.2(C1QTNF5):c.-68G>A single nucleotide variant Isolated microphthalmia 5 [RCV000310442]|Late-onset retinal degeneration [RCV001105678]|Retinal degeneration [RCV000393555] Chr11:119340719 [GRCh38]
Chr11:119211429 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001278431.2(C1QTNF5):c.55C>G (p.Leu19Val) single nucleotide variant Isolated microphthalmia 5 [RCV000373650]|Late-onset retinal degeneration [RCV001108889] Chr11:119340343 [GRCh38]
Chr11:119211053 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001278431.2(C1QTNF5):c.-43-13G>A single nucleotide variant Isolated microphthalmia 5 [RCV000380577]|Late-onset retinal degeneration [RCV001103730]|Retinal degeneration [RCV000342277] Chr11:119340453 [GRCh38]
Chr11:119211163 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.*126G>C single nucleotide variant Isolated microphthalmia 5 [RCV000347419]|Late-onset retinal degeneration [RCV001103822]|Retinal degeneration [RCV000290165] Chr11:119341422 [GRCh38]
Chr11:119212132 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.975+10G>A single nucleotide variant Isolated microphthalmia 5 [RCV000290724]|Late-onset retinal degeneration [RCV001106996]|Retinal degeneration [RCV000400773] Chr11:119344305 [GRCh38]
Chr11:119215015 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001278431.2(C1QTNF5):c.*251C>T single nucleotide variant Isolated microphthalmia 5 [RCV000385816]|Late-onset retinal degeneration [RCV001106626]|Retinal degeneration [RCV000328975] Chr11:119339080 [GRCh38]
Chr11:119209790 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001278431.2(C1QTNF5):c.306G>A (p.Pro102=) single nucleotide variant C1QTNF5-related disorder [RCV003905553]|not provided [RCV000592327] Chr11:119339757 [GRCh38]
Chr11:119210467 [GRCh37]
Chr11:11q23.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_031433.4(MFRP):c.298del (p.Ala100fs) deletion Isolated microphthalmia 5 [RCV001854001]|not provided [RCV000596262] Chr11:119345902 [GRCh38]
Chr11:119216612 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_031433.4(MFRP):c.104dup (p.Pro36fs) duplication Isolated microphthalmia 5 [RCV000578400] Chr11:119346324..119346325 [GRCh38]
Chr11:119217034..119217035 [GRCh37]
Chr11:11q23.3		 likely pathogenic
NM_031433.4(MFRP):c.642-2A>G single nucleotide variant Isolated microphthalmia 5 [RCV000778308]|not provided [RCV000593268] Chr11:119345006 [GRCh38]
Chr11:119215716 [GRCh37]
Chr11:11q23.3		 pathogenic|conflicting interpretations of pathogenicity|uncertain significance|no classifications from unflagged records
NM_031433.4(MFRP):c.169C>T (p.Arg57Ter) single nucleotide variant Isolated microphthalmia 5 [RCV001386036]|not provided [RCV000594206] Chr11:119346148 [GRCh38]
Chr11:119216858 [GRCh37]
Chr11:11q23.3		 pathogenic|likely pathogenic
NM_031433.4(MFRP):c.493C>T (p.Pro165Ser) single nucleotide variant Inborn genetic diseases [RCV002535368]|Isolated microphthalmia 5 [RCV001868992]|not provided [RCV000734144] Chr11:119345568 [GRCh38]
Chr11:119216278 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001278431.2(C1QTNF5):c.569C>G (p.Ser190Trp) single nucleotide variant Retinal dystrophy [RCV000504811] Chr11:119339494 [GRCh38]
Chr11:119210204 [GRCh37]
Chr11:11q23.3		 likely pathogenic
NC_000011.10:g.119346419_119352600del deletion Retinal dystrophy [RCV000504817] Chr11:119346419..119352600 [GRCh38]
Chr11:119217129..119223310 [GRCh37]
Chr11:11q23.3		 likely pathogenic
NM_001278431.2(C1QTNF5):c.495G>C (p.Gln165His) single nucleotide variant not provided [RCV000420843] Chr11:119339568 [GRCh38]
Chr11:119210278 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001278431.2(C1QTNF5):c.556C>T (p.Pro186Ser) single nucleotide variant Retinal dystrophy [RCV000505113] Chr11:119339507 [GRCh38]
Chr11:119210217 [GRCh37]
Chr11:11q23.3		 likely pathogenic
NM_031433.4(MFRP):c.955C>T (p.Gln319Ter) single nucleotide variant Isolated microphthalmia 5 [RCV001857224]|Retinal dystrophy [RCV000505123]|not provided [RCV000732086] Chr11:119344335 [GRCh38]
Chr11:119215045 [GRCh37]
Chr11:11q23.3		 pathogenic|likely pathogenic
GRCh37/hg19 11q23.3-25(chr11:116684163-134938470)x3 copy number gain See cases [RCV000447848] Chr11:116684163..134938470 [GRCh37]
Chr11:11q23.3-25		 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
GRCh37/hg19 11q23.3-25(chr11:116691675-134889485) copy number gain not provided [RCV000767667] Chr11:116691675..134889485 [GRCh37]
Chr11:11q23.3-25		 pathogenic
NM_001278431.2(C1QTNF5):c.583dup (p.Ala195fs) duplication C1QTNF5-related disorder [RCV003915714]|not provided [RCV000883989]|not specified [RCV000596199] Chr11:119339479..119339480 [GRCh38]
Chr11:119210189..119210190 [GRCh37]
Chr11:11q23.3		 benign|likely benign
NM_031433.4(MFRP):c.271C>T (p.Gln91Ter) single nucleotide variant Isolated microphthalmia 5 [RCV001382071]|not provided [RCV000594997] Chr11:119346046 [GRCh38]
Chr11:119216756 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_031433.4(MFRP):c.397G>T (p.Glu133Ter) single nucleotide variant Isolated microphthalmia 5 [RCV000540988] Chr11:119345803 [GRCh38]
Chr11:119216513 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_031433.4(MFRP):c.1615C>T (p.Arg539Cys) single nucleotide variant Isolated microphthalmia 5 [RCV001057432]|Isolated microphthalmia 5 [RCV002493121]|Nanophthalmia [RCV000678582]|not provided [RCV001580062] Chr11:119341673 [GRCh38]
Chr11:119212383 [GRCh37]
Chr11:11q23.3		 pathogenic|likely pathogenic|no classifications from unflagged records
GRCh37/hg19 11q23.3(chr11:116669751-120979377)x3 copy number gain not provided [RCV000683365] Chr11:116669751..120979377 [GRCh37]
Chr11:11q23.3		 likely pathogenic
NM_031433.4(MFRP):c.1148C>G (p.Pro383Arg) single nucleotide variant Isolated microphthalmia 5 [RCV000689924]|Retinal dystrophy [RCV004817928] Chr11:119342980 [GRCh38]
Chr11:119213690 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.629del (p.Gly210fs) deletion Isolated microphthalmia 5 [RCV000692211] Chr11:119345432 [GRCh38]
Chr11:119216142 [GRCh37]
Chr11:11q23.3		 pathogenic
Single allele deletion Short stature [RCV001003892] Chr11:114433313..131230466 [GRCh37]
Chr11:11q23.2-25		 likely 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
Single allele duplication Schizophrenia [RCV000754124] Chr11:118989374..135076622 [GRCh38]
Chr11:11q23.3-25		 likely pathogenic
GRCh37/hg19 11q23.3-25(chr11:116697066-134934063)x3 copy number gain not provided [RCV000737686] Chr11:116697066..134934063 [GRCh37]
Chr11:11q23.3-25		 pathogenic
NM_031433.4(MFRP):c.1073A>G (p.Tyr358Cys) single nucleotide variant Isolated microphthalmia 5 [RCV001065176] Chr11:119343867 [GRCh38]
Chr11:119214577 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001278431.2(C1QTNF5):c.562C>G (p.Pro188Ala) single nucleotide variant Late-onset retinal degeneration [RCV001005000] Chr11:119339501 [GRCh38]
Chr11:119210211 [GRCh37]
Chr11:11q23.3		 likely pathogenic
NM_031433.4(MFRP):c.337ACC[3] (p.Thr116del) microsatellite Isolated microphthalmia 5 [RCV001067386] Chr11:119345852..119345854 [GRCh38]
Chr11:119216562..119216564 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.1242C>T (p.Phe414=) single nucleotide variant Isolated microphthalmia 5 [RCV002066196] Chr11:119342886 [GRCh38]
Chr11:119213596 [GRCh37]
Chr11:11q23.3		 likely benign
NM_031433.4(MFRP):c.669G>A (p.Thr223=) single nucleotide variant Isolated microphthalmia 5 [RCV000950930]|Late-onset retinal degeneration [RCV001107759] Chr11:119344977 [GRCh38]
Chr11:119215687 [GRCh37]
Chr11:11q23.3		 benign|likely benign
NM_001278431.2(C1QTNF5):c.147C>T (p.Arg49=) single nucleotide variant not provided [RCV000921190] Chr11:119340251 [GRCh38]
Chr11:119210961 [GRCh37]
Chr11:11q23.3		 likely benign
NM_031433.4(MFRP):c.1235T>C (p.Leu412Pro) single nucleotide variant Retinal dystrophy [RCV001075782] Chr11:119342893 [GRCh38]
Chr11:119213603 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.772G>A (p.Gly258Arg) single nucleotide variant Isolated microphthalmia 5 [RCV001069073] Chr11:119344874 [GRCh38]
Chr11:119215584 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.79G>A (p.Glu27Lys) single nucleotide variant Isolated microphthalmia 5 [RCV001040984] Chr11:119346350 [GRCh38]
Chr11:119217060 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.496C>T (p.Pro166Ser) single nucleotide variant Isolated microphthalmia 5 [RCV001035219] Chr11:119345565 [GRCh38]
Chr11:119216275 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.57C>A (p.Thr19=) single nucleotide variant Isolated microphthalmia 5 [RCV001058807] Chr11:119346372 [GRCh38]
Chr11:119217082 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001278431.2(C1QTNF5):c.198C>T (p.Gly66=) single nucleotide variant C1QTNF5-related disorder [RCV003906170]|not provided [RCV001064804] Chr11:119340200 [GRCh38]
Chr11:119210910 [GRCh37]
Chr11:11q23.3		 likely benign|uncertain significance
NM_001278431.2(C1QTNF5):c.489C>A (p.Ser163Arg) single nucleotide variant Retinal dystrophy [RCV001073255]|not provided [RCV001240047] Chr11:119339574 [GRCh38]
Chr11:119210284 [GRCh37]
Chr11:11q23.3		 pathogenic|likely pathogenic
NM_031433.4(MFRP):c.160C>T (p.Arg54Trp) single nucleotide variant Isolated microphthalmia 5 [RCV001070190] Chr11:119346157 [GRCh38]
Chr11:119216867 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001278431.2(C1QTNF5):c.586A>G (p.Met196Val) single nucleotide variant Retinal dystrophy [RCV001073833] Chr11:119339477 [GRCh38]
Chr11:119210187 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001278431.2(C1QTNF5):c.186G>A (p.Pro62=) single nucleotide variant not provided [RCV001034887] Chr11:119340212 [GRCh38]
Chr11:119210922 [GRCh37]
Chr11:11q23.3		 likely benign|uncertain significance
NM_031433.4(MFRP):c.987G>A (p.Trp329Ter) single nucleotide variant Isolated microphthalmia 5 [RCV001034770] Chr11:119343953 [GRCh38]
Chr11:119214663 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_031433.4(MFRP):c.1124+1G>T single nucleotide variant Isolated microphthalmia 5 [RCV001052804]|Retinal dystrophy [RCV001075599] Chr11:119343815 [GRCh38]
Chr11:119214525 [GRCh37]
Chr11:11q23.3		 pathogenic|uncertain significance
NM_031433.4(MFRP):c.336G>A (p.Thr112=) single nucleotide variant Isolated microphthalmia 5 [RCV000928917] Chr11:119345864 [GRCh38]
Chr11:119216574 [GRCh37]
Chr11:11q23.3		 likely benign
GRCh37/hg19 11q23.3-25(chr11:116700253-134904063) copy number gain not provided [RCV000767816] Chr11:116700253..134904063 [GRCh37]
Chr11:11q23.3-25		 pathogenic
GRCh37/hg19 11q23.3-25(chr11:117830263-134938470)x3 copy number gain not provided [RCV000848151] Chr11:117830263..134938470 [GRCh37]
Chr11:11q23.3-25		 pathogenic
GRCh37/hg19 11q23.3(chr11:118280670-119650105)x3 copy number gain not provided [RCV001006451] Chr11:118280670..119650105 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.965C>T (p.Pro322Leu) single nucleotide variant Isolated microphthalmia 5 [RCV001044084] Chr11:119344325 [GRCh38]
Chr11:119215035 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.110C>T (p.Pro37Leu) single nucleotide variant Inborn genetic diseases [RCV003160320]|Isolated microphthalmia 5 [RCV001044229] Chr11:119346319 [GRCh38]
Chr11:119217029 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.271+1G>A single nucleotide variant Isolated microphthalmia 5 [RCV001246358] Chr11:119346045 [GRCh38]
Chr11:119216755 [GRCh37]
Chr11:11q23.3		 pathogenic|likely pathogenic
NM_031433.4(MFRP):c.772+2T>G single nucleotide variant Isolated microphthalmia 5 [RCV001243356] Chr11:119344872 [GRCh38]
Chr11:119215582 [GRCh37]
Chr11:11q23.3		 likely pathogenic
NM_031433.4(MFRP):c.428-2A>G single nucleotide variant Isolated microphthalmia 5 [RCV001208975] Chr11:119345635 [GRCh38]
Chr11:119216345 [GRCh37]
Chr11:11q23.3		 pathogenic|likely pathogenic
NM_031433.4(MFRP):c.1580G>A (p.Arg527His) single nucleotide variant Isolated microphthalmia 5 [RCV001226982] Chr11:119341708 [GRCh38]
Chr11:119212418 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001278431.2(C1QTNF5):c.154CGCGACGGC[3] (p.Gly57_Ala58insArgAspGly) microsatellite not provided [RCV001226032] Chr11:119340226..119340227 [GRCh38]
Chr11:119210936..119210937 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.1465G>A (p.Val489Met) single nucleotide variant Isolated microphthalmia 5 [RCV001246614] Chr11:119341907 [GRCh38]
Chr11:119212617 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.181C>T (p.Pro61Ser) single nucleotide variant Isolated microphthalmia 5 [RCV001246677] Chr11:119346136 [GRCh38]
Chr11:119216846 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.500del (p.Asn167fs) deletion Isolated microphthalmia 5 [RCV003112237] Chr11:119345561 [GRCh38]
Chr11:119216271 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_031433.4(MFRP):c.1535G>A (p.Cys512Tyr) single nucleotide variant not provided [RCV003231980] Chr11:119341753 [GRCh38]
Chr11:119212463 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.650G>A (p.Gly217Glu) single nucleotide variant Isolated microphthalmia 5 [RCV003112892] Chr11:119344996 [GRCh38]
Chr11:119215706 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001278431.2(C1QTNF5):c.70A>G (p.Ile24Val) single nucleotide variant Retinal dystrophy [RCV004814188] Chr11:119340328 [GRCh38]
Chr11:119211038 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.665C>G (p.Pro222Arg) single nucleotide variant Isolated microphthalmia 5 [RCV001724764] Chr11:119344981 [GRCh38]
Chr11:119215691 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.72T>C (p.Pro24=) single nucleotide variant Isolated microphthalmia 5 [RCV000878445] Chr11:119346357 [GRCh38]
Chr11:119217067 [GRCh37]
Chr11:11q23.3		 benign
NM_001278431.2(C1QTNF5):c.432C>G (p.Thr144=) single nucleotide variant not provided [RCV000933199] Chr11:119339631 [GRCh38]
Chr11:119210341 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001278431.2(C1QTNF5):c.236A>G (p.Asp79Gly) single nucleotide variant Isolated microphthalmia 5 [RCV001106724]|Late-onset retinal degeneration [RCV001106723]|Retinal dystrophy [RCV004813770]|not provided [RCV003565452] Chr11:119339827 [GRCh38]
Chr11:119210537 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.601C>T (p.Arg201Cys) single nucleotide variant Inborn genetic diseases [RCV003246791]|Isolated microphthalmia 5 [RCV001236171] Chr11:119345460 [GRCh38]
Chr11:119216170 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.1388-11C>T single nucleotide variant Isolated microphthalmia 5 [RCV001107556]|Late-onset retinal degeneration [RCV001107555] Chr11:119341995 [GRCh38]
Chr11:119212705 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.1250del (p.Thr417fs) deletion Isolated microphthalmia 5 [RCV001169878] Chr11:119342878 [GRCh38]
Chr11:119213588 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_031433.4(MFRP):c.1641C>A (p.His547Gln) single nucleotide variant Isolated microphthalmia 5 [RCV001237273] Chr11:119341647 [GRCh38]
Chr11:119212357 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.1250C>T (p.Thr417Met) single nucleotide variant Isolated microphthalmia 5 [RCV001044719] Chr11:119342878 [GRCh38]
Chr11:119213588 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.511G>A (p.Val171Met) single nucleotide variant Isolated microphthalmia 5 [RCV001240648]|Retinal dystrophy [RCV004813979] Chr11:119345550 [GRCh38]
Chr11:119216260 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001278431.2(C1QTNF5):c.356C>T (p.Ser119Phe) single nucleotide variant not provided [RCV001056702] Chr11:119339707 [GRCh38]
Chr11:119210417 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.779G>C (p.Cys260Ser) single nucleotide variant Isolated microphthalmia 5 [RCV001104330]|Late-onset retinal degeneration [RCV001104329] Chr11:119344751 [GRCh38]
Chr11:119215461 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.641+1G>A single nucleotide variant Isolated microphthalmia 5 [RCV001045511] Chr11:119345419 [GRCh38]
Chr11:119216129 [GRCh37]
Chr11:11q23.3		 pathogenic|likely pathogenic
NM_031433.4(MFRP):c.1256-8G>A single nucleotide variant Isolated microphthalmia 5 [RCV001493923] Chr11:119342735 [GRCh38]
Chr11:119213445 [GRCh37]
Chr11:11q23.3		 likely benign
NM_031433.4(MFRP):c.975+8C>G single nucleotide variant Isolated microphthalmia 5 [RCV002065564] Chr11:119344307 [GRCh38]
Chr11:119215017 [GRCh37]
Chr11:11q23.3		 likely benign
NC_000011.10:g.119346896_119346897insT insertion not provided [RCV001688971] Chr11:119346896..119346897 [GRCh38]
Chr11:119217606..119217607 [GRCh37]
Chr11:11q23.3		 benign
NC_000011.10:g.119346923C>T single nucleotide variant not provided [RCV001595754] Chr11:119346923 [GRCh38]
Chr11:119217633 [GRCh37]
Chr11:11q23.3		 benign
NM_031433.4(MFRP):c.706G>A (p.Val236Ile) single nucleotide variant Isolated microphthalmia 5 [RCV001043297] Chr11:119344940 [GRCh38]
Chr11:119215650 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.899-64G>A single nucleotide variant not provided [RCV001608344] Chr11:119344455 [GRCh38]
Chr11:119215165 [GRCh37]
Chr11:11q23.3		 benign
NM_031433.4(MFRP):c.1124+134C>T single nucleotide variant not provided [RCV001621517] Chr11:119343682 [GRCh38]
Chr11:119214392 [GRCh37]
Chr11:11q23.3		 benign
NC_000011.10:g.119346846G>A single nucleotide variant not provided [RCV001686470] Chr11:119346846 [GRCh38]
Chr11:119217556 [GRCh37]
Chr11:11q23.3		 benign
NM_031433.4(MFRP):c.1125-69T>A single nucleotide variant not provided [RCV001620372] Chr11:119343072 [GRCh38]
Chr11:119213782 [GRCh37]
Chr11:11q23.3		 benign
NM_031433.4(MFRP):c.321C>T (p.Ala107=) single nucleotide variant Isolated microphthalmia 5 [RCV001102589]|Late-onset retinal degeneration [RCV001102588] Chr11:119345879 [GRCh38]
Chr11:119216589 [GRCh37]
Chr11:11q23.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_001278431.2(C1QTNF5):c.212C>A (p.Pro71Gln) single nucleotide variant Isolated microphthalmia 5 [RCV001108887]|Late-onset retinal degeneration [RCV001108886]|not provided [RCV001856453] Chr11:119340186 [GRCh38]
Chr11:119210896 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.898+5G>A single nucleotide variant Isolated microphthalmia 5 [RCV001104027]|Late-onset retinal degeneration [RCV001107647] Chr11:119344627 [GRCh38]
Chr11:119215337 [GRCh37]
Chr11:11q23.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_031433.4(MFRP):c.1071C>T (p.Asp357=) single nucleotide variant Isolated microphthalmia 5 [RCV001104222]|Late-onset retinal degeneration [RCV001104221] Chr11:119343869 [GRCh38]
Chr11:119214579 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001278431.2(C1QTNF5):c.*1T>C single nucleotide variant Isolated microphthalmia 5 [RCV001103632]|Late-onset retinal degeneration [RCV001103631] Chr11:119339330 [GRCh38]
Chr11:119210040 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.1257C>A (p.Asn419Lys) single nucleotide variant Isolated microphthalmia 5 [RCV001104219]|Late-onset retinal degeneration [RCV001104218] Chr11:119342726 [GRCh38]
Chr11:119213436 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.428C>G (p.Thr143Ser) single nucleotide variant Inborn genetic diseases [RCV002552071]|Isolated microphthalmia 5 [RCV001034926] Chr11:119345633 [GRCh38]
Chr11:119216343 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001278431.2(C1QTNF5):c.*211C>A single nucleotide variant Isolated microphthalmia 5 [RCV001108785]|Late-onset retinal degeneration [RCV001106629] Chr11:119339120 [GRCh38]
Chr11:119209830 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.1611T>A (p.Pro537=) single nucleotide variant Isolated microphthalmia 5 [RCV001106883]|Late-onset retinal degeneration [RCV001106882] Chr11:119341677 [GRCh38]
Chr11:119212387 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.342C>G (p.Thr114=) single nucleotide variant Isolated microphthalmia 5 [RCV001102586]|Late-onset retinal degeneration [RCV001107827] Chr11:119345858 [GRCh38]
Chr11:119216568 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.976-97T>C single nucleotide variant not provided [RCV001611891] Chr11:119344061 [GRCh38]
Chr11:119214771 [GRCh37]
Chr11:11q23.3		 benign
NC_000011.10:g.119346870C>T single nucleotide variant not provided [RCV001652597] Chr11:119346870 [GRCh38]
Chr11:119217580 [GRCh37]
Chr11:11q23.3		 benign
NM_031433.4(MFRP):c.898+86G>A single nucleotide variant not provided [RCV001665843] Chr11:119344546 [GRCh38]
Chr11:119215256 [GRCh37]
Chr11:11q23.3		 benign
NC_000011.10:g.119346745C>T single nucleotide variant not provided [RCV001665320] Chr11:119346745 [GRCh38]
Chr11:119217455 [GRCh37]
Chr11:11q23.3		 benign
NM_001278431.2(C1QTNF5):c.561G>T (p.Lys187Asn) single nucleotide variant Late-onset retinal degeneration [RCV001005001] Chr11:119339502 [GRCh38]
Chr11:119210212 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.*39T>C single nucleotide variant Isolated microphthalmia 5 [RCV001105770]|Late-onset retinal degeneration [RCV001105769] Chr11:119341509 [GRCh38]
Chr11:119212219 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.1010A>G (p.His337Arg) single nucleotide variant Isolated microphthalmia 5 [RCV001215608] Chr11:119343930 [GRCh38]
Chr11:119214640 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.284C>T (p.Ala95Val) single nucleotide variant Isolated microphthalmia 5 [RCV001035490] Chr11:119345916 [GRCh38]
Chr11:119216626 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001278431.2(C1QTNF5):c.64A>G (p.Asn22Asp) single nucleotide variant not provided [RCV001207674] Chr11:119340334 [GRCh38]
Chr11:119211044 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.1414G>A (p.Glu472Lys) single nucleotide variant Isolated microphthalmia 5 [RCV001236779] Chr11:119341958 [GRCh38]
Chr11:119212668 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001278431.2(C1QTNF5):c.545T>C (p.Phe182Ser) single nucleotide variant Retinal dystrophy [RCV001075686] Chr11:119339518 [GRCh38]
Chr11:119210228 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001278431.2(C1QTNF5):c.256_257delinsAT (p.Ala86Met) indel not provided [RCV001049818] Chr11:119339806..119339807 [GRCh38]
Chr11:119210516..119210517 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.1025A>C (p.Gln342Pro) single nucleotide variant Isolated microphthalmia 5 [RCV001213702] Chr11:119343915 [GRCh38]
Chr11:119214625 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.347C>A (p.Thr116Asn) single nucleotide variant Isolated microphthalmia 5 [RCV001213790] Chr11:119345853 [GRCh38]
Chr11:119216563 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.1342G>A (p.Asp448Asn) single nucleotide variant Isolated microphthalmia 5 [RCV001205814] Chr11:119342641 [GRCh38]
Chr11:119213351 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.1156G>A (p.Val386Ile) single nucleotide variant Isolated microphthalmia 5 [RCV001207830] Chr11:119342972 [GRCh38]
Chr11:119213682 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.880T>C (p.Cys294Arg) single nucleotide variant Isolated microphthalmia 5 [RCV001051738] Chr11:119344650 [GRCh38]
Chr11:119215360 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.688C>T (p.His230Tyr) single nucleotide variant Isolated microphthalmia 5 [RCV001058689] Chr11:119344958 [GRCh38]
Chr11:119215668 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.642-3C>T single nucleotide variant Isolated microphthalmia 5 [RCV001234583] Chr11:119345007 [GRCh38]
Chr11:119215717 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.170G>T (p.Arg57Leu) single nucleotide variant Isolated microphthalmia 5 [RCV001248037] Chr11:119346147 [GRCh38]
Chr11:119216857 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.314T>C (p.Leu105Pro) single nucleotide variant Isolated microphthalmia 5 [RCV001230967] Chr11:119345886 [GRCh38]
Chr11:119216596 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.286C>A (p.Pro96Thr) single nucleotide variant Inborn genetic diseases [RCV002561818]|Isolated microphthalmia 5 [RCV001213562] Chr11:119345914 [GRCh38]
Chr11:119216624 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.1109T>C (p.Phe370Ser) single nucleotide variant Isolated microphthalmia 5 [RCV001040932] Chr11:119343831 [GRCh38]
Chr11:119214541 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.1006G>A (p.Gly336Arg) single nucleotide variant Isolated microphthalmia 5 [RCV001059560] Chr11:119343934 [GRCh38]
Chr11:119214644 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001278431.2(C1QTNF5):c.-48G>A single nucleotide variant Isolated microphthalmia 5 [RCV001105677]|Late-onset retinal degeneration [RCV001105676] Chr11:119340699 [GRCh38]
Chr11:119211409 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.782C>T (p.Ala261Val) single nucleotide variant Isolated microphthalmia 5 [RCV001064043] Chr11:119344748 [GRCh38]
Chr11:119215458 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001278431.2(C1QTNF5):c.152del (p.Gly51fs) deletion not provided [RCV001035199] Chr11:119340246 [GRCh38]
Chr11:119210956 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.596T>C (p.Phe199Ser) single nucleotide variant Isolated microphthalmia 5 [RCV001232107] Chr11:119345465 [GRCh38]
Chr11:119216175 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001278431.2(C1QTNF5):c.*236C>T single nucleotide variant Isolated microphthalmia 5 [RCV001106628]|Late-onset retinal degeneration [RCV001106627] Chr11:119339095 [GRCh38]
Chr11:119209805 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.164G>A (p.Arg55His) single nucleotide variant Isolated microphthalmia 5 [RCV001054495] Chr11:119346153 [GRCh38]
Chr11:119216863 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.1272_1287del (p.Ser424fs) deletion not provided [RCV001008406] Chr11:119342696..119342711 [GRCh38]
Chr11:119213406..119213421 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_031433.4(MFRP):c.*234C>A single nucleotide variant Isolated microphthalmia 5 [RCV001107448]|Late-onset retinal degeneration [RCV001107447] Chr11:119341314 [GRCh38]
Chr11:119212024 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001278431.2(C1QTNF5):c.563C>T (p.Pro188Leu) single nucleotide variant Retinal dystrophy [RCV001073348]|not provided [RCV001862496] Chr11:119339500 [GRCh38]
Chr11:119210210 [GRCh37]
Chr11:11q23.3		 pathogenic|uncertain significance
NM_015645.5(C1QTNF5):c.-1121-5C>A single nucleotide variant Retinal dystrophy [RCV001073401] Chr11:119341777 [GRCh38]
Chr11:119212487 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.*116C>T single nucleotide variant Isolated microphthalmia 5 [RCV001103824]|Late-onset retinal degeneration [RCV001103823] Chr11:119341432 [GRCh38]
Chr11:119212142 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.309C>G (p.Ser103Arg) single nucleotide variant Isolated microphthalmia 5 [RCV001102591]|Late-onset retinal degeneration [RCV001102590] Chr11:119345891 [GRCh38]
Chr11:119216601 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.1057G>A (p.Glu353Lys) single nucleotide variant Isolated microphthalmia 5 [RCV001245770] Chr11:119343883 [GRCh38]
Chr11:119214593 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.855T>A (p.Cys285Ter) single nucleotide variant Isolated microphthalmia 5 [RCV001724241]|Retinal dystrophy [RCV001074799] Chr11:119344675 [GRCh38]
Chr11:119215385 [GRCh37]
Chr11:11q23.3		 pathogenic|likely pathogenic
NM_001278431.2(C1QTNF5):c.96C>G (p.Pro32=) single nucleotide variant Retinal dystrophy [RCV001075083]|not provided [RCV002557920] Chr11:119340302 [GRCh38]
Chr11:119211012 [GRCh37]
Chr11:11q23.3		 likely benign|uncertain significance
NM_031433.4(MFRP):c.1267C>G (p.Pro423Ala) single nucleotide variant Isolated microphthalmia 5 [RCV001229391] Chr11:119342716 [GRCh38]
Chr11:119213426 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001278431.2(C1QTNF5):c.628G>C (p.Gly210Arg) single nucleotide variant Retinal dystrophy [RCV001075095] Chr11:119339435 [GRCh38]
Chr11:119210145 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.497C>T (p.Pro166Leu) single nucleotide variant Isolated microphthalmia 5 [RCV001859101]|Nanophthalmos 2 [RCV001255866] Chr11:119345564 [GRCh38]
Chr11:119216274 [GRCh37]
Chr11:11q23.3		 pathogenic|likely pathogenic|uncertain significance
NM_031433.4(MFRP):c.1180G>A (p.Val394Met) single nucleotide variant Nanophthalmos 2 [RCV001255868] Chr11:119342948 [GRCh38]
Chr11:119213658 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_031433.4(MFRP):c.1125G>T (p.Arg375Ser) single nucleotide variant Isolated microphthalmia 5 [RCV001304447] Chr11:119343003 [GRCh38]
Chr11:119213713 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.1255+5G>A single nucleotide variant Isolated microphthalmia 5 [RCV001348424] Chr11:119342868 [GRCh38]
Chr11:119213578 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.1256-4G>A single nucleotide variant Isolated microphthalmia 5 [RCV001078655]|MFRP-related disorder [RCV004539606]|not provided [RCV000174169] Chr11:119342731 [GRCh38]
Chr11:119213441 [GRCh37]
Chr11:11q23.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh38/hg38 11q23.3-25(chr11:116806268-135075271)x3 copy number gain See cases [RCV000138307] Chr11:116806268..135075271 [GRCh38]
Chr11:116676984..134945165 [GRCh37]
Chr11:116182194..134450377 [NCBI36]
Chr11:11q23.3-25		 pathogenic
NM_031433.4(MFRP):c.*316C>G single nucleotide variant Isolated microphthalmia 5 [RCV001107445]|Isolated microphthalmia 6 [RCV000264174]|Late-onset retinal degeneration [RCV000356525] Chr11:119341232 [GRCh38]
Chr11:119211942 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.-108G>A single nucleotide variant Isolated microphthalmia 6 [RCV000315976]|Retinal degeneration [RCV000260793]|not provided [RCV003422242] Chr11:119346621 [GRCh38]
Chr11:119217331 [GRCh37]
Chr11:11q23.3		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_031433.4(MFRP):c.1542G>C (p.Gln514His) single nucleotide variant Inborn genetic diseases [RCV002532372]|Isolated microphthalmia 5 [RCV001226225]|not provided [RCV000595814] Chr11:119341746 [GRCh38]
Chr11:119212456 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001278431.2(C1QTNF5):c.214+9G>A single nucleotide variant Isolated microphthalmia 5 [RCV000369214]|Late-onset retinal degeneration [RCV001106725]|Retinal degeneration [RCV000330755]|not provided [RCV001517885] Chr11:119340175 [GRCh38]
Chr11:119210885 [GRCh37]
Chr11:11q23.3		 benign|likely benign|uncertain significance
NM_031433.4(MFRP):c.452C>A (p.Pro151Gln) single nucleotide variant Inborn genetic diseases [RCV002522180]|Isolated microphthalmia 5 [RCV000337939]|Late-onset retinal degeneration [RCV001107167]|Retinal degeneration [RCV000282932] Chr11:119345609 [GRCh38]
Chr11:119216319 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001278431.2(C1QTNF5):c.*62A>T single nucleotide variant Isolated microphthalmia 6 [RCV000372083]|Retinal degeneration [RCV000332420]|not provided [RCV004703596] Chr11:119339269 [GRCh38]
Chr11:119209979 [GRCh37]
Chr11:11q23.3		 likely benign
NM_031433.4(MFRP):c.807G>A (p.Gln269=) single nucleotide variant Isolated microphthalmia 5 [RCV000386667]|Late-onset retinal degeneration [RCV001104030]|Retinal degeneration [RCV000332859] Chr11:119344723 [GRCh38]
Chr11:119215433 [GRCh37]
Chr11:11q23.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_031433.4(MFRP):c.58G>A (p.Glu20Lys) single nucleotide variant Isolated microphthalmia 5 [RCV000388518]|Late-onset retinal degeneration [RCV001107920]|Retinal degeneration [RCV000352705] Chr11:119346371 [GRCh38]
Chr11:119217081 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001278431.2(C1QTNF5):c.*345G>T single nucleotide variant Isolated microphthalmia 5 [RCV001106625]|Late-onset retinal degeneration [RCV000271321] Chr11:119338986 [GRCh38]
Chr11:119209696 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.496C>G (p.Pro166Ala) single nucleotide variant Isolated microphthalmia 5 [RCV002056175]|Late-onset retinal degeneration [RCV001104422]|MFRP-related disorder [RCV004537707]|Retinal degeneration [RCV000326502] Chr11:119345565 [GRCh38]
Chr11:119216275 [GRCh37]
Chr11:11q23.3		 likely benign|uncertain significance
NM_031433.4(MFRP):c.-57C>T single nucleotide variant Isolated microphthalmia 6 [RCV000358877]|Retinal degeneration [RCV000304135] Chr11:119346570 [GRCh38]
Chr11:119217280 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.786T>A (p.His262Gln) single nucleotide variant Isolated microphthalmia 5 [RCV000288629]|Late-onset retinal degeneration [RCV001104328]|Retinal degeneration [RCV000383217] Chr11:119344744 [GRCh38]
Chr11:119215454 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001278431.2(C1QTNF5):c.567C>T (p.Ala189=) single nucleotide variant Isolated microphthalmia 5 [RCV000391982]|Late-onset retinal degeneration [RCV001103634]|Retinal degeneration [RCV000340845]|not provided [RCV001482327] Chr11:119339496 [GRCh38]
Chr11:119210206 [GRCh37]
Chr11:11q23.3		 likely benign|uncertain significance
NM_031433.4(MFRP):c.1461C>A (p.Ile487=) single nucleotide variant Isolated microphthalmia 5 [RCV000362448]|Late-onset retinal degeneration [RCV001107554]|Retinal degeneration [RCV000307779] Chr11:119341911 [GRCh38]
Chr11:119212621 [GRCh37]
Chr11:11q23.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_031433.4(MFRP):c.-49G>A single nucleotide variant Isolated microphthalmia 5 [RCV000391941]|Late-onset retinal degeneration [RCV001104611]|Retinal degeneration [RCV000343842] Chr11:119346562 [GRCh38]
Chr11:119217272 [GRCh37]
Chr11:11q23.3		 likely benign|uncertain significance
NM_015645.5(C1QTNF5):c.-2701G>A single nucleotide variant Retinal degeneration [RCV000391949]|not provided [RCV002292515] Chr11:119346578 [GRCh38]
Chr11:119217288 [GRCh37]
Chr11:11q23.3		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_031433.4(MFRP):c.976-14A>C single nucleotide variant Isolated microphthalmia 5 [RCV001106995]|Late-onset retinal degeneration [RCV001106994]|Retinal degeneration [RCV000349203] Chr11:119343978 [GRCh38]
Chr11:119214688 [GRCh37]
Chr11:11q23.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_031433.4(MFRP):c.192C>G (p.Arg64=) single nucleotide variant Isolated microphthalmia 5 [RCV001107270]|Late-onset retinal degeneration [RCV001104513]|Retinal degeneration [RCV000361937]|Retinal dystrophy [RCV004816545]|not provided [RCV003992266] Chr11:119346125 [GRCh38]
Chr11:119216835 [GRCh37]
Chr11:11q23.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 11q23.3-25(chr11:116681007-134938470)x3 copy number gain See cases [RCV000449449] Chr11:116681007..134938470 [GRCh37]
Chr11:11q23.3-25		 pathogenic
NM_031433.4(MFRP):c.1640A>G (p.His547Arg) single nucleotide variant Inborn genetic diseases [RCV003258389] Chr11:119341648 [GRCh38]
Chr11:119212358 [GRCh37]
Chr11:11q23.3		 likely benign
GRCh37/hg19 11q23.3-25(chr11:116681007-134938470)x3 copy number gain See cases [RCV000512291] Chr11:116681007..134938470 [GRCh37]
Chr11:11q23.3-25		 pathogenic
GRCh37/hg19 11q23.3-25(chr11:116681007-134938470)x3 copy number gain not provided [RCV000683373] Chr11:116681007..134938470 [GRCh37]
Chr11:11q23.3-25		 pathogenic
NM_031433.4(MFRP):c.898+89C>G single nucleotide variant not provided [RCV001615408] Chr11:119344543 [GRCh38]
Chr11:119215253 [GRCh37]
Chr11:11q23.3		 benign
NM_031433.4(MFRP):c.477C>G (p.Asn159Lys) single nucleotide variant Isolated microphthalmia 5 [RCV001107165]|Late-onset retinal degeneration [RCV001107164] Chr11:119345584 [GRCh38]
Chr11:119216294 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.1160C>T (p.Ser387Phe) single nucleotide variant Isolated microphthalmia 5 [RCV001228001] Chr11:119342968 [GRCh38]
Chr11:119213678 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.1345G>A (p.Gly449Ser) single nucleotide variant Isolated microphthalmia 5 [RCV001068038]|Isolated microphthalmia 5 [RCV002482119]|not provided [RCV003883546] Chr11:119342638 [GRCh38]
Chr11:119213348 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.641+139C>T single nucleotide variant not provided [RCV001599159] Chr11:119345281 [GRCh38]
Chr11:119215991 [GRCh37]
Chr11:11q23.3		 benign
NM_001278431.2(C1QTNF5):c.354G>A (p.Pro118=) single nucleotide variant C1QTNF5-related disorder [RCV003928706]|Isolated microphthalmia 5 [RCV001105576]|Late-onset retinal degeneration [RCV001105575]|not provided [RCV002069737] Chr11:119339709 [GRCh38]
Chr11:119210419 [GRCh37]
Chr11:11q23.3		 likely benign|uncertain significance
NM_001278431.2(C1QTNF5):c.393C>A (p.Asn131Lys) single nucleotide variant Isolated microphthalmia 5 [RCV001105574]|Late-onset retinal degeneration [RCV001105573]|Retinal dystrophy [RCV004813643]|not provided [RCV001056719] Chr11:119339670 [GRCh38]
Chr11:119210380 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.*496G>A single nucleotide variant Isolated microphthalmia 5 [RCV001106806]|Late-onset retinal degeneration [RCV001106805] Chr11:119341052 [GRCh38]
Chr11:119211762 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.1148C>T (p.Pro383Leu) single nucleotide variant Isolated microphthalmia 5 [RCV001204114] Chr11:119342980 [GRCh38]
Chr11:119213690 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.899-3C>A single nucleotide variant Nanophthalmos 2 [RCV001255870] Chr11:119344394 [GRCh38]
Chr11:119215104 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_031433.4(MFRP):c.1386A>T (p.Pro462=) single nucleotide variant Isolated microphthalmia 5 [RCV002001064] Chr11:119342597 [GRCh38]
Chr11:119213307 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.1673C>A (p.Thr558Asn) single nucleotide variant Inborn genetic diseases [RCV002543861]|Isolated microphthalmia 5 [RCV001324711] Chr11:119341615 [GRCh38]
Chr11:119212325 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.827A>G (p.Asp276Gly) single nucleotide variant Isolated microphthalmia 5 [RCV001298867] Chr11:119344703 [GRCh38]
Chr11:119215413 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.1381C>A (p.Pro461Thr) single nucleotide variant Isolated microphthalmia 5 [RCV001319321] Chr11:119342602 [GRCh38]
Chr11:119213312 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.497C>A (p.Pro166His) single nucleotide variant Isolated microphthalmia 5 [RCV001325817] Chr11:119345564 [GRCh38]
Chr11:119216274 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.326G>A (p.Gly109Asp) single nucleotide variant Isolated microphthalmia 5 [RCV001299293] Chr11:119345874 [GRCh38]
Chr11:119216584 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.1550G>A (p.Arg517Gln) single nucleotide variant Inborn genetic diseases [RCV004951529]|Isolated microphthalmia 5 [RCV001320844]|not provided [RCV004692489] Chr11:119341738 [GRCh38]
Chr11:119212448 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.436G>A (p.Gly146Ser) single nucleotide variant Isolated microphthalmia 5 [RCV001339420] Chr11:119345625 [GRCh38]
Chr11:119216335 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.1655G>T (p.Gly552Val) single nucleotide variant Isolated microphthalmia 5 [RCV001301775] Chr11:119341633 [GRCh38]
Chr11:119212343 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.344C>A (p.Thr115Asn) single nucleotide variant Inborn genetic diseases [RCV004960738]|Isolated microphthalmia 5 [RCV001312379] Chr11:119345856 [GRCh38]
Chr11:119216566 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.899-10C>A single nucleotide variant Isolated microphthalmia 5 [RCV001304294] Chr11:119344401 [GRCh38]
Chr11:119215111 [GRCh37]
Chr11:11q23.3		 likely benign|uncertain significance
NM_001278431.2(C1QTNF5):c.214+6A>G single nucleotide variant not provided [RCV001340014] Chr11:119340178 [GRCh38]
Chr11:119210888 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001278431.2(C1QTNF5):c.653A>T (p.Tyr218Phe) single nucleotide variant not provided [RCV001305906] Chr11:119339410 [GRCh38]
Chr11:119210120 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001278431.2(C1QTNF5):c.6G>C (p.Arg2Ser) single nucleotide variant not provided [RCV001321288] Chr11:119340392 [GRCh38]
Chr11:119211102 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.578G>A (p.Ser193Asn) single nucleotide variant Isolated microphthalmia 5 [RCV001309396] Chr11:119345483 [GRCh38]
Chr11:119216193 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001278431.2(C1QTNF5):c.548G>C (p.Gly183Ala) single nucleotide variant not provided [RCV001373270] Chr11:119339515 [GRCh38]
Chr11:119210225 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.1125-3C>A single nucleotide variant not provided [RCV001354341] Chr11:119343006 [GRCh38]
Chr11:119213716 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.1074C>T (p.Tyr358=) single nucleotide variant Isolated microphthalmia 5 [RCV001433170] Chr11:119343866 [GRCh38]
Chr11:119214576 [GRCh37]
Chr11:11q23.3		 likely benign
NM_031433.4(MFRP):c.228G>A (p.Leu76=) single nucleotide variant Isolated microphthalmia 5 [RCV001433188] Chr11:119346089 [GRCh38]
Chr11:119216799 [GRCh37]
Chr11:11q23.3		 likely benign
NM_031433.4(MFRP):c.313del (p.Leu105fs) deletion Isolated microphthalmia 5 [RCV001382743] Chr11:119345887 [GRCh38]
Chr11:119216597 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_031433.4(MFRP):c.1258C>G (p.Pro420Ala) single nucleotide variant Isolated microphthalmia 5 [RCV001369595]|Retinal dystrophy [RCV004815479] Chr11:119342725 [GRCh38]
Chr11:119213435 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001278431.2(C1QTNF5):c.214+4A>G single nucleotide variant not provided [RCV001294349] Chr11:119340180 [GRCh38]
Chr11:119210890 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.1507G>A (p.Gly503Ser) single nucleotide variant Isolated microphthalmia 5 [RCV001360201] Chr11:119341865 [GRCh38]
Chr11:119212575 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.1497G>A (p.Glu499=) single nucleotide variant Isolated microphthalmia 5 [RCV001415308]|MFRP-related disorder [RCV004531267] Chr11:119341875 [GRCh38]
Chr11:119212585 [GRCh37]
Chr11:11q23.3		 likely benign
NM_031433.4(MFRP):c.728G>A (p.Gly243Glu) single nucleotide variant Isolated microphthalmia 5 [RCV001360559] Chr11:119344918 [GRCh38]
Chr11:119215628 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.510C>T (p.Cys170=) single nucleotide variant Isolated microphthalmia 5 [RCV001371870] Chr11:119345551 [GRCh38]
Chr11:119216261 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.451C>G (p.Pro151Ala) single nucleotide variant Isolated microphthalmia 5 [RCV001372029] Chr11:119345610 [GRCh38]
Chr11:119216320 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.1352A>T (p.Asp451Val) single nucleotide variant Isolated microphthalmia 5 [RCV001373654] Chr11:119342631 [GRCh38]
Chr11:119213341 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.1337G>A (p.Cys446Tyr) single nucleotide variant Isolated microphthalmia 5 [RCV001362750] Chr11:119342646 [GRCh38]
Chr11:119213356 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.551T>G (p.Leu184Arg) single nucleotide variant Isolated microphthalmia 5 [RCV001351910] Chr11:119345510 [GRCh38]
Chr11:119216220 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001278431.2(C1QTNF5):c.7C>A (p.Pro3Thr) single nucleotide variant not provided [RCV001327241] Chr11:119340391 [GRCh38]
Chr11:119211101 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001278431.2(C1QTNF5):c.358G>A (p.Asp120Asn) single nucleotide variant not provided [RCV001344788] Chr11:119339705 [GRCh38]
Chr11:119210415 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001278431.2(C1QTNF5):c.598G>C (p.Glu200Gln) single nucleotide variant not provided [RCV001362936] Chr11:119339465 [GRCh38]
Chr11:119210175 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.497C>G (p.Pro166Arg) single nucleotide variant Isolated microphthalmia 5 [RCV001312641] Chr11:119345564 [GRCh38]
Chr11:119216274 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001278431.2(C1QTNF5):c.109A>C (p.Thr37Pro) single nucleotide variant not provided [RCV001326455] Chr11:119340289 [GRCh38]
Chr11:119210999 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001278431.2(C1QTNF5):c.37G>A (p.Ala13Thr) single nucleotide variant not provided [RCV001320142] Chr11:119340361 [GRCh38]
Chr11:119211071 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.1150C>G (p.His384Asp) single nucleotide variant Isolated microphthalmia 5 [RCV001343775] Chr11:119342978 [GRCh38]
Chr11:119213688 [GRCh37]
Chr11:11q23.3		 uncertain significance
NC_000011.9:g.(?_119212238)_(119217243_?)dup duplication Isolated microphthalmia 5 [RCV001309712] Chr11:119212238..119217243 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.85G>A (p.Glu29Lys) single nucleotide variant Isolated microphthalmia 5 [RCV001296099] Chr11:119346344 [GRCh38]
Chr11:119217054 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.739C>T (p.His247Tyr) single nucleotide variant Isolated microphthalmia 5 [RCV001340860] Chr11:119344907 [GRCh38]
Chr11:119215617 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.178C>T (p.Arg60Trp) single nucleotide variant Isolated microphthalmia 5 [RCV001346016] Chr11:119346139 [GRCh38]
Chr11:119216849 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.161G>A (p.Arg54Gln) single nucleotide variant Isolated microphthalmia 5 [RCV001365243] Chr11:119346156 [GRCh38]
Chr11:119216866 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.404G>T (p.Gly135Val) single nucleotide variant Inborn genetic diseases [RCV002543179]|Isolated microphthalmia 5 [RCV001306847] Chr11:119345796 [GRCh38]
Chr11:119216506 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.496C>A (p.Pro166Thr) single nucleotide variant Isolated microphthalmia 5 [RCV001345042] Chr11:119345565 [GRCh38]
Chr11:119216275 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.127G>A (p.Ala43Thr) single nucleotide variant Isolated microphthalmia 5 [RCV001338959] Chr11:119346302 [GRCh38]
Chr11:119217012 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.629G>A (p.Gly210Asp) single nucleotide variant Isolated microphthalmia 5 [RCV001300532] Chr11:119345432 [GRCh38]
Chr11:119216142 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.1114C>G (p.Leu372Val) single nucleotide variant Isolated microphthalmia 5 [RCV001302094] Chr11:119343826 [GRCh38]
Chr11:119214536 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.546A>G (p.Ile182Met) single nucleotide variant Inborn genetic diseases [RCV004036485]|Isolated microphthalmia 5 [RCV001346232] Chr11:119345515 [GRCh38]
Chr11:119216225 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.139G>A (p.Val47Ile) single nucleotide variant Isolated microphthalmia 5 [RCV001370265] Chr11:119346290 [GRCh38]
Chr11:119217000 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.989A>G (p.His330Arg) single nucleotide variant Isolated microphthalmia 5 [RCV001362024] Chr11:119343951 [GRCh38]
Chr11:119214661 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001278431.2(C1QTNF5):c.39G>A (p.Ala13=) single nucleotide variant not provided [RCV001321117] Chr11:119340359 [GRCh38]
Chr11:119211069 [GRCh37]
Chr11:11q23.3		 likely benign|uncertain significance
NC_000011.9:g.(?_119077108)_(120133495_?)dup duplication RASopathy [RCV001314250] Chr11:119077108..120133495 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.457G>A (p.Gly153Ser) single nucleotide variant Isolated microphthalmia 5 [RCV001322622] Chr11:119345604 [GRCh38]
Chr11:119216314 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.472C>T (p.Pro158Ser) single nucleotide variant Isolated microphthalmia 5 [RCV001322689] Chr11:119345589 [GRCh38]
Chr11:119216299 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001278431.2(C1QTNF5):c.25C>G (p.Leu9Val) single nucleotide variant not provided [RCV001339646] Chr11:119340373 [GRCh38]
Chr11:119211083 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.617C>G (p.Pro206Arg) single nucleotide variant Isolated microphthalmia 5 [RCV001305282] Chr11:119345444 [GRCh38]
Chr11:119216154 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.190C>G (p.Arg64Gly) single nucleotide variant Isolated microphthalmia 5 [RCV001304202] Chr11:119346127 [GRCh38]
Chr11:119216837 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.1334A>G (p.Asp445Gly) single nucleotide variant Isolated microphthalmia 5 [RCV001304213] Chr11:119342649 [GRCh38]
Chr11:119213359 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.668C>T (p.Thr223Met) single nucleotide variant Isolated microphthalmia 5 [RCV001370871] Chr11:119344978 [GRCh38]
Chr11:119215688 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001278431.2(C1QTNF5):c.583del (p.Ala195fs) deletion Late-onset retinal degeneration [RCV001336303] Chr11:119339480 [GRCh38]
Chr11:119210190 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_031433.4(MFRP):c.1304G>T (p.Gly435Val) single nucleotide variant Isolated microphthalmia 5 [RCV001366794] Chr11:119342679 [GRCh38]
Chr11:119213389 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001278431.2(C1QTNF5):c.235G>C (p.Asp79His) single nucleotide variant not provided [RCV001316428] Chr11:119339828 [GRCh38]
Chr11:119210538 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001278431.2(C1QTNF5):c.154CGCGACGGC[1] (p.49RDG[2]) microsatellite not provided [RCV001367138] Chr11:119340227..119340235 [GRCh38]
Chr11:119210937..119210945 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.647G>A (p.Cys216Tyr) single nucleotide variant Isolated microphthalmia 5 [RCV001319036] Chr11:119344999 [GRCh38]
Chr11:119215709 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.266T>C (p.Leu89Pro) single nucleotide variant Isolated microphthalmia 5 [RCV001365828] Chr11:119346051 [GRCh38]
Chr11:119216761 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001278431.2(C1QTNF5):c.671_674del (p.Asp224fs) microsatellite not provided [RCV001369666] Chr11:119339389..119339392 [GRCh38]
Chr11:119210099..119210102 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.1075G>A (p.Val359Met) single nucleotide variant Inborn genetic diseases [RCV004960735]|Isolated microphthalmia 5 [RCV001308702] Chr11:119343865 [GRCh38]
Chr11:119214575 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.313C>T (p.Leu105=) single nucleotide variant Isolated microphthalmia 5 [RCV001485383] Chr11:119345887 [GRCh38]
Chr11:119216597 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001278431.2(C1QTNF5):c.63CAA[1] (p.Asn22del) microsatellite not provided [RCV001424492] Chr11:119340330..119340332 [GRCh38]
Chr11:119211040..119211042 [GRCh37]
Chr11:11q23.3		 likely benign
NM_031433.4(MFRP):c.1125-6G>C single nucleotide variant Isolated microphthalmia 5 [RCV001461917] Chr11:119343009 [GRCh38]
Chr11:119213719 [GRCh37]
Chr11:11q23.3		 likely benign
NM_031433.4(MFRP):c.158-4G>A single nucleotide variant Isolated microphthalmia 5 [RCV001487605]|MFRP-related disorder [RCV004540434] Chr11:119346163 [GRCh38]
Chr11:119216873 [GRCh37]
Chr11:11q23.3		 likely benign
NM_031433.4(MFRP):c.1263T>C (p.Cys421=) single nucleotide variant Isolated microphthalmia 5 [RCV001482593] Chr11:119342720 [GRCh38]
Chr11:119213430 [GRCh37]
Chr11:11q23.3		 likely benign
NM_031433.4(MFRP):c.1365C>T (p.Ser455=) single nucleotide variant Isolated microphthalmia 5 [RCV001405041] Chr11:119342618 [GRCh38]
Chr11:119213328 [GRCh37]
Chr11:11q23.3		 likely benign
NM_031433.4(MFRP):c.1269C>T (p.Pro423=) single nucleotide variant Isolated microphthalmia 5 [RCV001504768] Chr11:119342714 [GRCh38]
Chr11:119213424 [GRCh37]
Chr11:11q23.3		 likely benign
NM_031433.4(MFRP):c.1176G>A (p.Leu392=) single nucleotide variant Isolated microphthalmia 5 [RCV001476230] Chr11:119342952 [GRCh38]
Chr11:119213662 [GRCh37]
Chr11:11q23.3		 likely benign
NM_031433.4(MFRP):c.1255+16C>A single nucleotide variant Isolated microphthalmia 5 [RCV001471111] Chr11:119342857 [GRCh38]
Chr11:119213567 [GRCh37]
Chr11:11q23.3		 likely benign
NM_031433.4(MFRP):c.271+8C>T single nucleotide variant Isolated microphthalmia 5 [RCV001473930] Chr11:119346038 [GRCh38]
Chr11:119216748 [GRCh37]
Chr11:11q23.3		 likely benign
NM_031433.4(MFRP):c.1056C>T (p.Asp352=) single nucleotide variant Isolated microphthalmia 5 [RCV001405501]|not provided [RCV004706106] Chr11:119343884 [GRCh38]
Chr11:119214594 [GRCh37]
Chr11:11q23.3		 likely benign
NM_031433.4(MFRP):c.1230C>T (p.Thr410=) single nucleotide variant Isolated microphthalmia 5 [RCV001488911] Chr11:119342898 [GRCh38]
Chr11:119213608 [GRCh37]
Chr11:11q23.3		 likely benign
NM_031433.4(MFRP):c.1122C>G (p.Gly374=) single nucleotide variant Isolated microphthalmia 5 [RCV001492860] Chr11:119343818 [GRCh38]
Chr11:119214528 [GRCh37]
Chr11:11q23.3		 likely benign
NM_031433.4(MFRP):c.157+7A>G single nucleotide variant Isolated microphthalmia 5 [RCV001517185] Chr11:119346265 [GRCh38]
Chr11:119216975 [GRCh37]
Chr11:11q23.3		 benign
NM_031433.4(MFRP):c.271+11G>A single nucleotide variant Isolated microphthalmia 5 [RCV001487582] Chr11:119346035 [GRCh38]
Chr11:119216745 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001278431.2(C1QTNF5):c.576G>T (p.Ser192=) single nucleotide variant not provided [RCV001485943] Chr11:119339487 [GRCh38]
Chr11:119210197 [GRCh37]
Chr11:11q23.3		 likely benign
NM_031433.4(MFRP):c.1516-19G>A single nucleotide variant Isolated microphthalmia 5 [RCV001501755] Chr11:119341791 [GRCh38]
Chr11:119212501 [GRCh37]
Chr11:11q23.3		 likely benign
NM_031433.4(MFRP):c.909G>A (p.Gly303=) single nucleotide variant Isolated microphthalmia 5 [RCV001491980] Chr11:119344381 [GRCh38]
Chr11:119215091 [GRCh37]
Chr11:11q23.3		 likely benign
NM_031433.4(MFRP):c.1090_1091del (p.Thr364fs) deletion Isolated microphthalmia 5 [RCV001384252]|Isolated microphthalmia 5 [RCV002493926] Chr11:119343849..119343850 [GRCh38]
Chr11:119214559..119214560 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001278431.2(C1QTNF5):c.55C>T (p.Leu19=) single nucleotide variant not provided [RCV001474904] Chr11:119340343 [GRCh38]
Chr11:119211053 [GRCh37]
Chr11:11q23.3		 likely benign
NM_031433.4(MFRP):c.772+10T>C single nucleotide variant Isolated microphthalmia 5 [RCV001437010] Chr11:119344864 [GRCh38]
Chr11:119215574 [GRCh37]
Chr11:11q23.3		 likely benign
NM_031433.4(MFRP):c.219C>T (p.Leu73=) single nucleotide variant Isolated microphthalmia 5 [RCV001409286] Chr11:119346098 [GRCh38]
Chr11:119216808 [GRCh37]
Chr11:11q23.3		 likely benign
NM_031433.4(MFRP):c.1090_1094del (p.Thr364fs) deletion Isolated microphthalmia 5 [RCV001387384] Chr11:119343846..119343850 [GRCh38]
Chr11:119214556..119214560 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_031433.4(MFRP):c.666del (p.Thr223fs) deletion Isolated microphthalmia 5 [RCV001381150]|Nanophthalmos 2 [RCV002246363] Chr11:119344980 [GRCh38]
Chr11:119215690 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_031433.4(MFRP):c.1350C>T (p.Ser450=) single nucleotide variant Isolated microphthalmia 5 [RCV001448750] Chr11:119342633 [GRCh38]
Chr11:119213343 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001278431.2(C1QTNF5):c.66C>T (p.Asn22=) single nucleotide variant not provided [RCV001409928] Chr11:119340332 [GRCh38]
Chr11:119211042 [GRCh37]
Chr11:11q23.3		 likely benign
NC_000011.9:g.(?_119217150)_(119217243_?)del deletion Isolated microphthalmia 5 [RCV001390063] Chr11:119217150..119217243 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001278431.2(C1QTNF5):c.592A>C (p.Arg198=) single nucleotide variant not provided [RCV001446874] Chr11:119339471 [GRCh38]
Chr11:119210181 [GRCh37]
Chr11:11q23.3		 likely benign
NM_031433.4(MFRP):c.768G>A (p.Gly256=) single nucleotide variant Isolated microphthalmia 5 [RCV001403712] Chr11:119344878 [GRCh38]
Chr11:119215588 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001278431.2(C1QTNF5):c.420C>T (p.Thr140=) single nucleotide variant not provided [RCV001430782] Chr11:119339643 [GRCh38]
Chr11:119210353 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001278431.2(C1QTNF5):c.307C>A (p.Arg103=) single nucleotide variant not provided [RCV001444727] Chr11:119339756 [GRCh38]
Chr11:119210466 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001278431.2(C1QTNF5):c.642C>T (p.Tyr214=) single nucleotide variant not provided [RCV001410604] Chr11:119339421 [GRCh38]
Chr11:119210131 [GRCh37]
Chr11:11q23.3		 likely benign
NM_031433.4(MFRP):c.300G>A (p.Ala100=) single nucleotide variant Isolated microphthalmia 5 [RCV001444824]|MFRP-related disorder [RCV004734192] Chr11:119345900 [GRCh38]
Chr11:119216610 [GRCh37]
Chr11:11q23.3		 likely benign
NM_031433.4(MFRP):c.999G>A (p.Val333=) single nucleotide variant Isolated microphthalmia 5 [RCV001444863] Chr11:119343941 [GRCh38]
Chr11:119214651 [GRCh37]
Chr11:11q23.3		 likely benign
NM_031433.4(MFRP):c.240G>A (p.Leu80=) single nucleotide variant Isolated microphthalmia 5 [RCV001447462] Chr11:119346077 [GRCh38]
Chr11:119216787 [GRCh37]
Chr11:11q23.3		 likely benign
NM_031433.4(MFRP):c.771C>T (p.Arg257=) single nucleotide variant Isolated microphthalmia 5 [RCV001437652] Chr11:119344875 [GRCh38]
Chr11:119215585 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001278431.2(C1QTNF5):c.87G>T (p.Pro29=) single nucleotide variant not provided [RCV001408461] Chr11:119340311 [GRCh38]
Chr11:119211021 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001278431.2(C1QTNF5):c.123T>C (p.His41=) single nucleotide variant not provided [RCV001434823] Chr11:119340275 [GRCh38]
Chr11:119210985 [GRCh37]
Chr11:11q23.3		 likely benign
NM_031433.4(MFRP):c.852C>T (p.Asn284=) single nucleotide variant Isolated microphthalmia 5 [RCV001393645] Chr11:119344678 [GRCh38]
Chr11:119215388 [GRCh37]
Chr11:11q23.3		 likely benign
NM_031433.4(MFRP):c.228G>C (p.Leu76=) single nucleotide variant Isolated microphthalmia 5 [RCV001435217] Chr11:119346089 [GRCh38]
Chr11:119216799 [GRCh37]
Chr11:11q23.3		 likely benign
NM_031433.4(MFRP):c.1425C>T (p.Leu475=) single nucleotide variant Isolated microphthalmia 5 [RCV001428483] Chr11:119341947 [GRCh38]
Chr11:119212657 [GRCh37]
Chr11:11q23.3		 likely benign
NM_031433.4(MFRP):c.976-124A>G single nucleotide variant not provided [RCV001617141] Chr11:119344088 [GRCh38]
Chr11:119214798 [GRCh37]
Chr11:11q23.3		 benign
NM_001278431.2(C1QTNF5):c.540G>A (p.Gln180=) single nucleotide variant not provided [RCV001499079] Chr11:119339523 [GRCh38]
Chr11:119210233 [GRCh37]
Chr11:11q23.3		 likely benign
NM_031433.4(MFRP):c.642-187G>A single nucleotide variant not provided [RCV001684718] Chr11:119345191 [GRCh38]
Chr11:119215901 [GRCh37]
Chr11:11q23.3		 benign
NM_031433.4(MFRP):c.486C>T (p.Asp162=) single nucleotide variant Isolated microphthalmia 5 [RCV001470030] Chr11:119345575 [GRCh38]
Chr11:119216285 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001278431.2(C1QTNF5):c.498T>C (p.Phe166=) single nucleotide variant not provided [RCV001497711] Chr11:119339565 [GRCh38]
Chr11:119210275 [GRCh37]
Chr11:11q23.3		 likely benign
NM_031433.4(MFRP):c.279G>A (p.Gln93=) single nucleotide variant Isolated microphthalmia 5 [RCV001453146] Chr11:119345921 [GRCh38]
Chr11:119216631 [GRCh37]
Chr11:11q23.3		 likely benign
NM_031433.4(MFRP):c.1227C>T (p.Ala409=) single nucleotide variant Isolated microphthalmia 5 [RCV001488629] Chr11:119342901 [GRCh38]
Chr11:119213611 [GRCh37]
Chr11:11q23.3		 likely benign
NM_031433.4(MFRP):c.1371C>G (p.Pro457=) single nucleotide variant Isolated microphthalmia 5 [RCV001485287] Chr11:119342612 [GRCh38]
Chr11:119213322 [GRCh37]
Chr11:11q23.3		 likely benign
NM_031433.4(MFRP):c.1124+234C>T single nucleotide variant not provided [RCV001652512] Chr11:119343582 [GRCh38]
Chr11:119214292 [GRCh37]
Chr11:11q23.3		 benign
NM_001278431.2(C1QTNF5):c.297G>T (p.Ser99=) single nucleotide variant not provided [RCV001486205] Chr11:119339766 [GRCh38]
Chr11:119210476 [GRCh37]
Chr11:11q23.3		 likely benign
NM_031433.4(MFRP):c.78C>T (p.Phe26=) single nucleotide variant Isolated microphthalmia 5 [RCV001428795] Chr11:119346351 [GRCh38]
Chr11:119217061 [GRCh37]
Chr11:11q23.3		 likely benign
NM_031433.4(MFRP):c.57C>T (p.Thr19=) single nucleotide variant Isolated microphthalmia 5 [RCV001482072] Chr11:119346372 [GRCh38]
Chr11:119217082 [GRCh37]
Chr11:11q23.3		 likely benign
NM_031433.4(MFRP):c.174G>T (p.Gly58=) single nucleotide variant Isolated microphthalmia 5 [RCV001454017] Chr11:119346143 [GRCh38]
Chr11:119216853 [GRCh37]
Chr11:11q23.3		 likely benign
NM_031433.4(MFRP):c.147T>C (p.Ala49=) single nucleotide variant Isolated microphthalmia 5 [RCV001431725] Chr11:119346282 [GRCh38]
Chr11:119216992 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001278431.2(C1QTNF5):c.285C>G (p.Ala95=) single nucleotide variant not provided [RCV001477175] Chr11:119339778 [GRCh38]
Chr11:119210488 [GRCh37]
Chr11:11q23.3		 likely benign
NM_031433.4(MFRP):c.828C>T (p.Asp276=) single nucleotide variant Isolated microphthalmia 5 [RCV001399827] Chr11:119344702 [GRCh38]
Chr11:119215412 [GRCh37]
Chr11:11q23.3		 likely benign
NM_031433.4(MFRP):c.1005C>T (p.Ala335=) single nucleotide variant Isolated microphthalmia 5 [RCV001500805] Chr11:119343935 [GRCh38]
Chr11:119214645 [GRCh37]
Chr11:11q23.3		 likely benign
NM_031433.4(MFRP):c.55-8C>G single nucleotide variant Isolated microphthalmia 5 [RCV001417960] Chr11:119346382 [GRCh38]
Chr11:119217092 [GRCh37]
Chr11:11q23.3		 likely benign
NM_031433.4(MFRP):c.1008A>G (p.Gly336=) single nucleotide variant Isolated microphthalmia 5 [RCV001393606] Chr11:119343932 [GRCh38]
Chr11:119214642 [GRCh37]
Chr11:11q23.3		 likely benign
NM_031433.4(MFRP):c.1164G>C (p.Ser388=) single nucleotide variant Isolated microphthalmia 5 [RCV001438640] Chr11:119342964 [GRCh38]
Chr11:119213674 [GRCh37]
Chr11:11q23.3		 likely benign
NM_031433.4(MFRP):c.898+9C>G single nucleotide variant Isolated microphthalmia 5 [RCV001419098] Chr11:119344623 [GRCh38]
Chr11:119215333 [GRCh37]
Chr11:11q23.3		 likely benign
NM_031433.4(MFRP):c.272-9C>T single nucleotide variant Isolated microphthalmia 5 [RCV001428289] Chr11:119345937 [GRCh38]
Chr11:119216647 [GRCh37]
Chr11:11q23.3		 likely benign
NC_000011.9:g.104288964_134937416dup duplication Distal trisomy 11q [RCV001250234] Chr11:104288964..134937416 [GRCh37]
Chr11:11q22.3-25		 pathogenic
NM_031433.4(MFRP):c.1013G>A (p.Ser338Asn) single nucleotide variant Isolated microphthalmia 5 [RCV001990037] Chr11:119343927 [GRCh38]
Chr11:119214637 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.55-1G>A single nucleotide variant Isolated microphthalmia 5 [RCV001807532] Chr11:119346375 [GRCh38]
Chr11:119217085 [GRCh37]
Chr11:11q23.3		 likely pathogenic
NM_001278431.2(C1QTNF5):c.83G>A (p.Cys28Tyr) single nucleotide variant Retinal dystrophy [RCV004818644] Chr11:119340315 [GRCh38]
Chr11:119211025 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.968A>G (p.His323Arg) single nucleotide variant Isolated microphthalmia 5 [RCV001990672] Chr11:119344322 [GRCh38]
Chr11:119215032 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.940A>G (p.Thr314Ala) single nucleotide variant Isolated microphthalmia 5 [RCV002044072] Chr11:119344350 [GRCh38]
Chr11:119215060 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.335C>A (p.Thr112Lys) single nucleotide variant Isolated microphthalmia 5 [RCV001873913] Chr11:119345865 [GRCh38]
Chr11:119216575 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.95C>T (p.Pro32Leu) single nucleotide variant Isolated microphthalmia 5 [RCV001871465] Chr11:119346334 [GRCh38]
Chr11:119217044 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.724G>A (p.Glu242Lys) single nucleotide variant Isolated microphthalmia 5 [RCV002008630] Chr11:119344922 [GRCh38]
Chr11:119215632 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.453A>C (p.Pro151=) single nucleotide variant Isolated microphthalmia 5 [RCV001999344] Chr11:119345608 [GRCh38]
Chr11:119216318 [GRCh37]
Chr11:11q23.3		 likely benign|uncertain significance
NM_031433.4(MFRP):c.431_443dup (p.Ser149fs) duplication Isolated microphthalmia 5 [RCV001999868] Chr11:119345617..119345618 [GRCh38]
Chr11:119216327..119216328 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001278431.2(C1QTNF5):c.302C>T (p.Pro101Leu) single nucleotide variant not provided [RCV001894544] Chr11:119339761 [GRCh38]
Chr11:119210471 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001278431.2(C1QTNF5):c.685G>A (p.Gly229Arg) single nucleotide variant not provided [RCV001870664] Chr11:119339378 [GRCh38]
Chr11:119210088 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001278431.2(C1QTNF5):c.539A>C (p.Gln180Pro) single nucleotide variant not provided [RCV001896319] Chr11:119339524 [GRCh38]
Chr11:119210234 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.1144C>G (p.Pro382Ala) single nucleotide variant Isolated microphthalmia 5 [RCV001872554] Chr11:119342984 [GRCh38]
Chr11:119213694 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.1169A>C (p.His390Pro) single nucleotide variant Isolated microphthalmia 5 [RCV001867820] Chr11:119342959 [GRCh38]
Chr11:119213669 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.1529T>C (p.Leu510Pro) single nucleotide variant Isolated microphthalmia 5 [RCV002035537] Chr11:119341759 [GRCh38]
Chr11:119212469 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001278431.2(C1QTNF5):c.278G>C (p.Gly93Ala) single nucleotide variant not provided [RCV001927530] Chr11:119339785 [GRCh38]
Chr11:119210495 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.257C>A (p.Ala86Asp) single nucleotide variant Isolated microphthalmia 5 [RCV002010020] Chr11:119346060 [GRCh38]
Chr11:119216770 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.773-1G>C single nucleotide variant Isolated microphthalmia 5 [RCV002022410] Chr11:119344758 [GRCh38]
Chr11:119215468 [GRCh37]
Chr11:11q23.3		 likely pathogenic
NM_001278431.2(C1QTNF5):c.215-3C>T single nucleotide variant not provided [RCV002021362] Chr11:119339851 [GRCh38]
Chr11:119210561 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.1367G>T (p.Gly456Val) single nucleotide variant Isolated microphthalmia 5 [RCV002036655] Chr11:119342616 [GRCh38]
Chr11:119213326 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001278431.2(C1QTNF5):c.703G>T (p.Asp235Tyr) single nucleotide variant not provided [RCV001966143] Chr11:119339360 [GRCh38]
Chr11:119210070 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.794T>C (p.Phe265Ser) single nucleotide variant Isolated microphthalmia 5 [RCV002042097] Chr11:119344736 [GRCh38]
Chr11:119215446 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.870T>G (p.Asp290Glu) single nucleotide variant Isolated microphthalmia 5 [RCV002046821] Chr11:119344660 [GRCh38]
Chr11:119215370 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.1018G>A (p.Glu340Lys) single nucleotide variant Isolated microphthalmia 5 [RCV002000325] Chr11:119343922 [GRCh38]
Chr11:119214632 [GRCh37]
Chr11:11q23.3		 uncertain significance
GRCh37/hg19 11q23.1-24.3(chr11:112375478-128785742)x3 copy number gain not provided [RCV001829187] Chr11:112375478..128785742 [GRCh37]
Chr11:11q23.1-24.3		 pathogenic
NM_001278431.2(C1QTNF5):c.104C>A (p.Pro35Gln) single nucleotide variant not provided [RCV001908882] Chr11:119340294 [GRCh38]
Chr11:119211004 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.325G>T (p.Gly109Cys) single nucleotide variant Isolated microphthalmia 5 [RCV002030690] Chr11:119345875 [GRCh38]
Chr11:119216585 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001278431.2(C1QTNF5):c.505G>A (p.Val169Met) single nucleotide variant not provided [RCV001912454] Chr11:119339558 [GRCh38]
Chr11:119210268 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001278431.2(C1QTNF5):c.397C>A (p.Gln133Lys) single nucleotide variant not provided [RCV001985984] Chr11:119339666 [GRCh38]
Chr11:119210376 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.157+1G>C single nucleotide variant Isolated microphthalmia 5 [RCV002031599] Chr11:119346271 [GRCh38]
Chr11:119216981 [GRCh37]
Chr11:11q23.3		 likely pathogenic
NM_001278431.2(C1QTNF5):c.204C>T (p.Gly68=) single nucleotide variant not provided [RCV002006438] Chr11:119340194 [GRCh38]
Chr11:119210904 [GRCh37]
Chr11:11q23.3		 likely benign|uncertain significance
NM_031433.4(MFRP):c.1718T>G (p.Leu573Arg) single nucleotide variant Isolated microphthalmia 5 [RCV002005453] Chr11:119341570 [GRCh38]
Chr11:119212280 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.896C>T (p.Ser299Leu) single nucleotide variant Isolated microphthalmia 5 [RCV002024748] Chr11:119344634 [GRCh38]
Chr11:119215344 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001278431.2(C1QTNF5):c.194A>G (p.Lys65Arg) single nucleotide variant not provided [RCV002041759] Chr11:119340204 [GRCh38]
Chr11:119210914 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.848C>T (p.Ala283Val) single nucleotide variant Isolated microphthalmia 5 [RCV002021359] Chr11:119344682 [GRCh38]
Chr11:119215392 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.1150C>A (p.His384Asn) single nucleotide variant Isolated microphthalmia 5 [RCV001895170] Chr11:119342978 [GRCh38]
Chr11:119213688 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.545T>A (p.Ile182Lys) single nucleotide variant Isolated microphthalmia 5 [RCV001923618] Chr11:119345516 [GRCh38]
Chr11:119216226 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.1335C>T (p.Asp445=) single nucleotide variant Isolated microphthalmia 5 [RCV001953894] Chr11:119342648 [GRCh38]
Chr11:119213358 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001278431.2(C1QTNF5):c.245C>A (p.Pro82Gln) single nucleotide variant not provided [RCV001961751] Chr11:119339818 [GRCh38]
Chr11:119210528 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.797G>A (p.Arg266His) single nucleotide variant Inborn genetic diseases [RCV003365480]|Isolated microphthalmia 5 [RCV001905483] Chr11:119344733 [GRCh38]
Chr11:119215443 [GRCh37]
Chr11:11q23.3		 likely benign|uncertain significance
NM_031433.4(MFRP):c.1381C>G (p.Pro461Ala) single nucleotide variant Isolated microphthalmia 5 [RCV001882186] Chr11:119342602 [GRCh38]
Chr11:119213312 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001278431.2(C1QTNF5):c.481C>A (p.Arg161=) single nucleotide variant not provided [RCV001888778] Chr11:119339582 [GRCh38]
Chr11:119210292 [GRCh37]
Chr11:11q23.3		 likely benign|uncertain significance
NM_031433.4(MFRP):c.1604T>C (p.Leu535Pro) single nucleotide variant Isolated microphthalmia 5 [RCV001914696] Chr11:119341684 [GRCh38]
Chr11:119212394 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.1666C>T (p.Leu556=) single nucleotide variant Isolated microphthalmia 5 [RCV001972733] Chr11:119341622 [GRCh38]
Chr11:119212332 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001278431.2(C1QTNF5):c.589G>C (p.Val197Leu) single nucleotide variant not provided [RCV001952958] Chr11:119339474 [GRCh38]
Chr11:119210184 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.1193C>A (p.Thr398Lys) single nucleotide variant Isolated microphthalmia 5 [RCV001895337] Chr11:119342935 [GRCh38]
Chr11:119213645 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001278431.2(C1QTNF5):c.212C>G (p.Pro71Arg) single nucleotide variant not provided [RCV002012830] Chr11:119340186 [GRCh38]
Chr11:119210896 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.601C>A (p.Arg201Ser) single nucleotide variant Isolated microphthalmia 5 [RCV001896244] Chr11:119345460 [GRCh38]
Chr11:119216170 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.410G>A (p.Ser137Asn) single nucleotide variant Inborn genetic diseases [RCV004043635]|Isolated microphthalmia 5 [RCV001955573] Chr11:119345790 [GRCh38]
Chr11:119216500 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.287_291del (p.Pro96fs) deletion Isolated microphthalmia 5 [RCV001956194] Chr11:119345909..119345913 [GRCh38]
Chr11:119216619..119216623 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_031433.4(MFRP):c.69T>A (p.Asn23Lys) single nucleotide variant Isolated microphthalmia 5 [RCV001985970] Chr11:119346360 [GRCh38]
Chr11:119217070 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.425C>A (p.Ser142Tyr) single nucleotide variant Isolated microphthalmia 5 [RCV001961051] Chr11:119345775 [GRCh38]
Chr11:119216485 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.540_541delinsCT (p.Ala181Ser) indel Isolated microphthalmia 5 [RCV001902388] Chr11:119345520..119345521 [GRCh38]
Chr11:119216230..119216231 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001278431.2(C1QTNF5):c.163C>T (p.Arg55Cys) single nucleotide variant not provided [RCV002033526] Chr11:119340235 [GRCh38]
Chr11:119210945 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.1598G>A (p.Ser533Asn) single nucleotide variant Isolated microphthalmia 5 [RCV001930192] Chr11:119341690 [GRCh38]
Chr11:119212400 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.643G>A (p.Val215Ile) single nucleotide variant Isolated microphthalmia 5 [RCV001902346] Chr11:119345003 [GRCh38]
Chr11:119215713 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.184G>A (p.Asp62Asn) single nucleotide variant Isolated microphthalmia 5 [RCV001961912] Chr11:119346133 [GRCh38]
Chr11:119216843 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.1567C>G (p.Leu523Val) single nucleotide variant Inborn genetic diseases [RCV004946916]|Isolated microphthalmia 5 [RCV001967971] Chr11:119341721 [GRCh38]
Chr11:119212431 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.757A>C (p.Met253Leu) single nucleotide variant Isolated microphthalmia 5 [RCV001881737] Chr11:119344889 [GRCh38]
Chr11:119215599 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.670C>T (p.Leu224Phe) single nucleotide variant Isolated microphthalmia 5 [RCV001970879] Chr11:119344976 [GRCh38]
Chr11:119215686 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001278431.2(C1QTNF5):c.635G>C (p.Gly212Ala) single nucleotide variant not provided [RCV001972032] Chr11:119339428 [GRCh38]
Chr11:119210138 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.1631A>C (p.Glu544Ala) single nucleotide variant Isolated microphthalmia 5 [RCV001965255] Chr11:119341657 [GRCh38]
Chr11:119212367 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.785A>G (p.His262Arg) single nucleotide variant Isolated microphthalmia 5 [RCV001881537] Chr11:119344745 [GRCh38]
Chr11:119215455 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001278431.2(C1QTNF5):c.211C>G (p.Pro71Ala) single nucleotide variant not provided [RCV002028847] Chr11:119340187 [GRCh38]
Chr11:119210897 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001278431.2(C1QTNF5):c.66C>G (p.Asn22Lys) single nucleotide variant Retinal dystrophy [RCV004816867]|not provided [RCV002009744] Chr11:119340332 [GRCh38]
Chr11:119211042 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.143C>T (p.Pro48Leu) single nucleotide variant Inborn genetic diseases [RCV004641791]|Isolated microphthalmia 5 [RCV001940379] Chr11:119346286 [GRCh38]
Chr11:119216996 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001278431.2(C1QTNF5):c.317T>C (p.Phe106Ser) single nucleotide variant not provided [RCV002009927] Chr11:119339746 [GRCh38]
Chr11:119210456 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.871G>A (p.Glu291Lys) single nucleotide variant Isolated microphthalmia 5 [RCV001943274] Chr11:119344659 [GRCh38]
Chr11:119215369 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001278431.2(C1QTNF5):c.172G>A (p.Ala58Thr) single nucleotide variant not provided [RCV001897480] Chr11:119340226 [GRCh38]
Chr11:119210936 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.996G>A (p.Ser332=) single nucleotide variant Isolated microphthalmia 5 [RCV001946428] Chr11:119343944 [GRCh38]
Chr11:119214654 [GRCh37]
Chr11:11q23.3		 likely benign|uncertain significance
NM_031433.4(MFRP):c.121G>C (p.Glu41Gln) single nucleotide variant Isolated microphthalmia 5 [RCV001892896] Chr11:119346308 [GRCh38]
Chr11:119217018 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.616C>T (p.Pro206Ser) single nucleotide variant Inborn genetic diseases [RCV004946876]|Isolated microphthalmia 5 [RCV001951826] Chr11:119345445 [GRCh38]
Chr11:119216155 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.559G>A (p.Glu187Lys) single nucleotide variant Inborn genetic diseases [RCV004641779]|Isolated microphthalmia 5 [RCV001925945] Chr11:119345502 [GRCh38]
Chr11:119216212 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.1255+4G>C single nucleotide variant Isolated microphthalmia 5 [RCV001983152] Chr11:119342869 [GRCh38]
Chr11:119213579 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.853T>C (p.Cys285Arg) single nucleotide variant Isolated microphthalmia 5 [RCV001929578] Chr11:119344677 [GRCh38]
Chr11:119215387 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.299C>T (p.Ala100Val) single nucleotide variant Inborn genetic diseases [RCV003264342]|Isolated microphthalmia 5 [RCV001959695] Chr11:119345901 [GRCh38]
Chr11:119216611 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001278431.2(C1QTNF5):c.7C>T (p.Pro3Ser) single nucleotide variant not provided [RCV002033074] Chr11:119340391 [GRCh38]
Chr11:119211101 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.566T>C (p.Leu189Pro) single nucleotide variant Isolated microphthalmia 5 [RCV001934595] Chr11:119345495 [GRCh38]
Chr11:119216205 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.1082T>C (p.Val361Ala) single nucleotide variant Isolated microphthalmia 5 [RCV001938690] Chr11:119343858 [GRCh38]
Chr11:119214568 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.1326G>A (p.Met442Ile) single nucleotide variant Isolated microphthalmia 5 [RCV001937654] Chr11:119342657 [GRCh38]
Chr11:119213367 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.137G>A (p.Ser46Asn) single nucleotide variant Isolated microphthalmia 5 [RCV001973109] Chr11:119346292 [GRCh38]
Chr11:119217002 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001278431.2(C1QTNF5):c.38C>A (p.Ala13Glu) single nucleotide variant not provided [RCV002034084] Chr11:119340360 [GRCh38]
Chr11:119211070 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.602G>A (p.Arg201His) single nucleotide variant Isolated microphthalmia 5 [RCV001975997] Chr11:119345459 [GRCh38]
Chr11:119216169 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001278431.2(C1QTNF5):c.599A>G (p.Glu200Gly) single nucleotide variant not provided [RCV002019061] Chr11:119339464 [GRCh38]
Chr11:119210174 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001278431.2(C1QTNF5):c.17T>A (p.Val6Asp) single nucleotide variant not provided [RCV001988918] Chr11:119340381 [GRCh38]
Chr11:119211091 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.761C>T (p.Ala254Val) single nucleotide variant Isolated microphthalmia 5 [RCV001938910] Chr11:119344885 [GRCh38]
Chr11:119215595 [GRCh37]
Chr11:11q23.3		 uncertain significance
NC_000011.9:g.(?_116660844)_(121500272_?)dup duplication not provided [RCV003107886] Chr11:116660844..121500272 [GRCh37]
Chr11:11q23.3-24.1		 uncertain significance
NM_031433.4(MFRP):c.33G>A (p.Met11Ile) single nucleotide variant Isolated microphthalmia 5 [RCV001324898] Chr11:119346481 [GRCh38]
Chr11:119217191 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.1616G>A (p.Arg539His) single nucleotide variant Isolated microphthalmia 5 [RCV001337960] Chr11:119341672 [GRCh38]
Chr11:119212382 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.1103G>A (p.Gly368Glu) single nucleotide variant Isolated microphthalmia 5 [RCV001367588] Chr11:119343837 [GRCh38]
Chr11:119214547 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.1351G>A (p.Asp451Asn) single nucleotide variant Isolated microphthalmia 5 [RCV001313437] Chr11:119342632 [GRCh38]
Chr11:119213342 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.1510T>G (p.Tyr504Asp) single nucleotide variant Isolated microphthalmia 5 [RCV001362001] Chr11:119341862 [GRCh38]
Chr11:119212572 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.542C>T (p.Ala181Val) single nucleotide variant Isolated microphthalmia 5 [RCV001373539] Chr11:119345519 [GRCh38]
Chr11:119216229 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001278431.2(C1QTNF5):c.250G>C (p.Gly84Arg) single nucleotide variant not provided [RCV001307301] Chr11:119339813 [GRCh38]
Chr11:119210523 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.992T>C (p.Ile331Thr) single nucleotide variant Isolated microphthalmia 5 [RCV001327672] Chr11:119343948 [GRCh38]
Chr11:119214658 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.543A>C (p.Ala181=) single nucleotide variant Isolated microphthalmia 5 [RCV001483541] Chr11:119345518 [GRCh38]
Chr11:119216228 [GRCh37]
Chr11:11q23.3		 likely benign
NM_031433.4(MFRP):c.87G>A (p.Glu29=) single nucleotide variant Isolated microphthalmia 5 [RCV001486902] Chr11:119346342 [GRCh38]
Chr11:119217052 [GRCh37]
Chr11:11q23.3		 likely benign
NM_031433.4(MFRP):c.641+20G>A single nucleotide variant Isolated microphthalmia 5 [RCV001493442] Chr11:119345400 [GRCh38]
Chr11:119216110 [GRCh37]
Chr11:11q23.3		 likely benign
NM_031433.4(MFRP):c.1626C>T (p.Cys542=) single nucleotide variant Isolated microphthalmia 5 [RCV001490103] Chr11:119341662 [GRCh38]
Chr11:119212372 [GRCh37]
Chr11:11q23.3		 likely benign
NC_000011.9:g.(?_116691583)_(121500272_?)dup duplication Combined immunodeficiency due to CD3gamma deficiency [RCV003119252]|Immunodeficiency 18 [RCV003109226]|Immunodeficiency 19 [RCV003109224]|Inflammatory bowel disease 28 [RCV003109225]|Isolated microphthalmia 5 [RCV003119251]|RASopathy [RCV003119250] Chr11:116691583..121500272 [GRCh37]
Chr11:11q23.3-24.1		 uncertain significance
NM_001278431.2(C1QTNF5):c.548G>A (p.Gly183Glu) single nucleotide variant not provided [RCV002025029] Chr11:119339515 [GRCh38]
Chr11:119210225 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001278431.2(C1QTNF5):c.215-7C>G single nucleotide variant not provided [RCV001910258] Chr11:119339855 [GRCh38]
Chr11:119210565 [GRCh37]
Chr11:11q23.3		 likely benign|uncertain significance
NM_031433.4(MFRP):c.1553G>A (p.Arg518Lys) single nucleotide variant Isolated microphthalmia 5 [RCV002026992] Chr11:119341735 [GRCh38]
Chr11:119212445 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.405C>T (p.Gly135=) single nucleotide variant Isolated microphthalmia 5 [RCV002043343] Chr11:119345795 [GRCh38]
Chr11:119216505 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.976-3C>G single nucleotide variant Isolated microphthalmia 5 [RCV002006427] Chr11:119343967 [GRCh38]
Chr11:119214677 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.28T>C (p.Cys10Arg) single nucleotide variant Retinal dystrophy [RCV004815831] Chr11:119346486 [GRCh38]
Chr11:119217196 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.769C>T (p.Arg257Cys) single nucleotide variant Retinal dystrophy [RCV004815897] Chr11:119344877 [GRCh38]
Chr11:119215587 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001278431.2(C1QTNF5):c.238C>A (p.Pro80Thr) single nucleotide variant not provided [RCV001886726] Chr11:119339825 [GRCh38]
Chr11:119210535 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001278431.2(C1QTNF5):c.275C>T (p.Thr92Ile) single nucleotide variant not provided [RCV001957622] Chr11:119339788 [GRCh38]
Chr11:119210498 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.1408C>T (p.Gln470Ter) single nucleotide variant Isolated microphthalmia 5 [RCV001952914] Chr11:119341964 [GRCh38]
Chr11:119212674 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_031433.4(MFRP):c.1637A>C (p.Glu546Ala) single nucleotide variant Isolated microphthalmia 5 [RCV001913564] Chr11:119341651 [GRCh38]
Chr11:119212361 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.179G>A (p.Arg60Gln) single nucleotide variant Isolated microphthalmia 5 [RCV001971649]|Optic atrophy [RCV004816865] Chr11:119346138 [GRCh38]
Chr11:119216848 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.1702C>T (p.Pro568Ser) single nucleotide variant Isolated microphthalmia 5 [RCV001948749] Chr11:119341586 [GRCh38]
Chr11:119212296 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.701T>C (p.Val234Ala) single nucleotide variant Isolated microphthalmia 5 [RCV001938742] Chr11:119344945 [GRCh38]
Chr11:119215655 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.172G>A (p.Gly58Arg) single nucleotide variant Inborn genetic diseases [RCV004044338]|Isolated microphthalmia 5 [RCV001945800] Chr11:119346145 [GRCh38]
Chr11:119216855 [GRCh37]
Chr11:11q23.3		 likely benign|uncertain significance
NM_031433.4(MFRP):c.1297T>C (p.Cys433Arg) single nucleotide variant Isolated microphthalmia 5 [RCV001947712] Chr11:119342686 [GRCh38]
Chr11:119213396 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001278431.2(C1QTNF5):c.625G>A (p.Val209Met) single nucleotide variant not provided [RCV001993932] Chr11:119339438 [GRCh38]
Chr11:119210148 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.1639C>T (p.His547Tyr) single nucleotide variant Isolated microphthalmia 5 [RCV001935070] Chr11:119341649 [GRCh38]
Chr11:119212359 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.157+9C>A single nucleotide variant Isolated microphthalmia 5 [RCV002193074] Chr11:119346263 [GRCh38]
Chr11:119216973 [GRCh37]
Chr11:11q23.3		 likely benign
NM_031433.4(MFRP):c.1388-14C>T single nucleotide variant Isolated microphthalmia 5 [RCV002076035] Chr11:119341998 [GRCh38]
Chr11:119212708 [GRCh37]
Chr11:11q23.3		 likely benign
NM_031433.4(MFRP):c.642-18C>A single nucleotide variant Isolated microphthalmia 5 [RCV002089864] Chr11:119345022 [GRCh38]
Chr11:119215732 [GRCh37]
Chr11:11q23.3		 likely benign
NM_031433.4(MFRP):c.1521G>A (p.Leu507=) single nucleotide variant Isolated microphthalmia 5 [RCV002097673] Chr11:119341767 [GRCh38]
Chr11:119212477 [GRCh37]
Chr11:11q23.3		 likely benign
NM_031433.4(MFRP):c.898+11G>A single nucleotide variant Isolated microphthalmia 5 [RCV002102051] Chr11:119344621 [GRCh38]
Chr11:119215331 [GRCh37]
Chr11:11q23.3		 likely benign
NM_031433.4(MFRP):c.213C>T (p.Leu71=) single nucleotide variant Isolated microphthalmia 5 [RCV002141743] Chr11:119346104 [GRCh38]
Chr11:119216814 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001278431.2(C1QTNF5):c.215-13G>T single nucleotide variant not provided [RCV002110470] Chr11:119339861 [GRCh38]
Chr11:119210571 [GRCh37]
Chr11:11q23.3		 likely benign
NM_031433.4(MFRP):c.1125-14T>C single nucleotide variant Isolated microphthalmia 5 [RCV002124357] Chr11:119343017 [GRCh38]
Chr11:119213727 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001278431.2(C1QTNF5):c.552G>A (p.Gly184=) single nucleotide variant not provided [RCV002108817] Chr11:119339511 [GRCh38]
Chr11:119210221 [GRCh37]
Chr11:11q23.3		 likely benign
NM_031433.4(MFRP):c.976-12G>A single nucleotide variant Isolated microphthalmia 5 [RCV002169744] Chr11:119343976 [GRCh38]
Chr11:119214686 [GRCh37]
Chr11:11q23.3		 likely benign
NM_031433.4(MFRP):c.976-8T>C single nucleotide variant Isolated microphthalmia 5 [RCV002170743] Chr11:119343972 [GRCh38]
Chr11:119214682 [GRCh37]
Chr11:11q23.3		 likely benign
NM_031433.4(MFRP):c.976-10C>T single nucleotide variant Isolated microphthalmia 5 [RCV002130980] Chr11:119343974 [GRCh38]
Chr11:119214684 [GRCh37]
Chr11:11q23.3		 likely benign
NM_031433.4(MFRP):c.666C>G (p.Pro222=) single nucleotide variant Isolated microphthalmia 5 [RCV002144094]|MFRP-related disorder [RCV004734469] Chr11:119344980 [GRCh38]
Chr11:119215690 [GRCh37]
Chr11:11q23.3		 likely benign
NM_031433.4(MFRP):c.915G>A (p.Leu305=) single nucleotide variant Isolated microphthalmia 5 [RCV002147602] Chr11:119344375 [GRCh38]
Chr11:119215085 [GRCh37]
Chr11:11q23.3		 likely benign
NM_031433.4(MFRP):c.898+15T>C single nucleotide variant Isolated microphthalmia 5 [RCV002151232] Chr11:119344617 [GRCh38]
Chr11:119215327 [GRCh37]
Chr11:11q23.3		 likely benign
NM_031433.4(MFRP):c.1256-14C>T single nucleotide variant Isolated microphthalmia 5 [RCV002150298] Chr11:119342741 [GRCh38]
Chr11:119213451 [GRCh37]
Chr11:11q23.3		 likely benign
NM_031433.4(MFRP):c.1255+13G>A single nucleotide variant Isolated microphthalmia 5 [RCV002151224] Chr11:119342860 [GRCh38]
Chr11:119213570 [GRCh37]
Chr11:11q23.3		 likely benign
NM_031433.4(MFRP):c.773-16T>C single nucleotide variant Isolated microphthalmia 5 [RCV002202467] Chr11:119344773 [GRCh38]
Chr11:119215483 [GRCh37]
Chr11:11q23.3		 likely benign
NM_031433.4(MFRP):c.1256-20C>T single nucleotide variant Isolated microphthalmia 5 [RCV002178829] Chr11:119342747 [GRCh38]
Chr11:119213457 [GRCh37]
Chr11:11q23.3		 likely benign
NM_031433.4(MFRP):c.694C>T (p.Leu232=) single nucleotide variant Isolated microphthalmia 5 [RCV002089592] Chr11:119344952 [GRCh38]
Chr11:119215662 [GRCh37]
Chr11:11q23.3		 likely benign
NM_031433.4(MFRP):c.158-5C>T single nucleotide variant Isolated microphthalmia 5 [RCV002098033] Chr11:119346164 [GRCh38]
Chr11:119216874 [GRCh37]
Chr11:11q23.3		 likely benign
NM_031433.4(MFRP):c.55-8C>A single nucleotide variant Isolated microphthalmia 5 [RCV002099039] Chr11:119346382 [GRCh38]
Chr11:119217092 [GRCh37]
Chr11:11q23.3		 likely benign
NM_031433.4(MFRP):c.1388-8C>T single nucleotide variant Isolated microphthalmia 5 [RCV002108187] Chr11:119341992 [GRCh38]
Chr11:119212702 [GRCh37]
Chr11:11q23.3		 likely benign
NM_031433.4(MFRP):c.48G>A (p.Ser16=) single nucleotide variant Isolated microphthalmia 5 [RCV002115131] Chr11:119346466 [GRCh38]
Chr11:119217176 [GRCh37]
Chr11:11q23.3		 likely benign
NM_031433.4(MFRP):c.898+19G>T single nucleotide variant Isolated microphthalmia 5 [RCV002113417] Chr11:119344613 [GRCh38]
Chr11:119215323 [GRCh37]
Chr11:11q23.3		 likely benign
NM_031433.4(MFRP):c.1341C>T (p.Thr447=) single nucleotide variant Isolated microphthalmia 5 [RCV002129030] Chr11:119342642 [GRCh38]
Chr11:119213352 [GRCh37]
Chr11:11q23.3		 likely benign
NM_031433.4(MFRP):c.666C>A (p.Pro222=) single nucleotide variant Isolated microphthalmia 5 [RCV002125737] Chr11:119344980 [GRCh38]
Chr11:119215690 [GRCh37]
Chr11:11q23.3		 likely benign
NM_031433.4(MFRP):c.1388-19del deletion Isolated microphthalmia 5 [RCV002127743] Chr11:119342003 [GRCh38]
Chr11:119212713 [GRCh37]
Chr11:11q23.3		 likely benign
NM_031433.4(MFRP):c.898+18G>C single nucleotide variant Isolated microphthalmia 5 [RCV002131913] Chr11:119344614 [GRCh38]
Chr11:119215324 [GRCh37]
Chr11:11q23.3		 likely benign
NM_031433.4(MFRP):c.271+13G>A single nucleotide variant Isolated microphthalmia 5 [RCV002136509] Chr11:119346033 [GRCh38]
Chr11:119216743 [GRCh37]
Chr11:11q23.3		 likely benign
NM_031433.4(MFRP):c.158-20C>G single nucleotide variant Isolated microphthalmia 5 [RCV002136510] Chr11:119346179 [GRCh38]
Chr11:119216889 [GRCh37]
Chr11:11q23.3		 likely benign
NM_031433.4(MFRP):c.641+19A>C single nucleotide variant Isolated microphthalmia 5 [RCV002141801] Chr11:119345401 [GRCh38]
Chr11:119216111 [GRCh37]
Chr11:11q23.3		 likely benign
NM_031433.4(MFRP):c.1124+13G>T single nucleotide variant Isolated microphthalmia 5 [RCV002154518] Chr11:119343803 [GRCh38]
Chr11:119214513 [GRCh37]
Chr11:11q23.3		 likely benign
NM_031433.4(MFRP):c.1387+17T>C single nucleotide variant Isolated microphthalmia 5 [RCV002147600] Chr11:119342579 [GRCh38]
Chr11:119213289 [GRCh37]
Chr11:11q23.3		 likely benign
NM_031433.4(MFRP):c.972A>G (p.Gln324=) single nucleotide variant Isolated microphthalmia 5 [RCV002163536] Chr11:119344318 [GRCh38]
Chr11:119215028 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001278431.2(C1QTNF5):c.516C>A (p.Gly172=) single nucleotide variant not provided [RCV002191368] Chr11:119339547 [GRCh38]
Chr11:119210257 [GRCh37]
Chr11:11q23.3		 likely benign
NM_031433.4(MFRP):c.1155C>T (p.Leu385=) single nucleotide variant Isolated microphthalmia 5 [RCV002159194] Chr11:119342973 [GRCh38]
Chr11:119213683 [GRCh37]
Chr11:11q23.3		 likely benign
NM_031433.4(MFRP):c.428-10A>T single nucleotide variant Isolated microphthalmia 5 [RCV002163240] Chr11:119345643 [GRCh38]
Chr11:119216353 [GRCh37]
Chr11:11q23.3		 likely benign
NM_031433.4(MFRP):c.1239C>T (p.Ala413=) single nucleotide variant Isolated microphthalmia 5 [RCV002173516] Chr11:119342889 [GRCh38]
Chr11:119213599 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001278431.2(C1QTNF5):c.214+13C>G single nucleotide variant not provided [RCV002166479] Chr11:119340171 [GRCh38]
Chr11:119210881 [GRCh37]
Chr11:11q23.3		 likely benign
NM_031433.4(MFRP):c.772+8T>G single nucleotide variant Isolated microphthalmia 5 [RCV002185678] Chr11:119344866 [GRCh38]
Chr11:119215576 [GRCh37]
Chr11:11q23.3		 likely benign
NM_031433.4(MFRP):c.899-12A>G single nucleotide variant Isolated microphthalmia 5 [RCV002081513] Chr11:119344403 [GRCh38]
Chr11:119215113 [GRCh37]
Chr11:11q23.3		 likely benign
NM_031433.4(MFRP):c.192C>T (p.Arg64=) single nucleotide variant Isolated microphthalmia 5 [RCV002185305] Chr11:119346125 [GRCh38]
Chr11:119216835 [GRCh37]
Chr11:11q23.3		 likely benign
NM_031433.4(MFRP):c.54+20G>A single nucleotide variant Isolated microphthalmia 5 [RCV002192392] Chr11:119346440 [GRCh38]
Chr11:119217150 [GRCh37]
Chr11:11q23.3		 likely benign
NM_031433.4(MFRP):c.1104G>A (p.Gly368=) single nucleotide variant Isolated microphthalmia 5 [RCV002190578] Chr11:119343836 [GRCh38]
Chr11:119214546 [GRCh37]
Chr11:11q23.3		 likely benign
NM_031433.4(MFRP):c.309C>T (p.Ser103=) single nucleotide variant Isolated microphthalmia 5 [RCV002117111] Chr11:119345891 [GRCh38]
Chr11:119216601 [GRCh37]
Chr11:11q23.3		 likely benign
NM_031433.4(MFRP):c.822A>G (p.Leu274=) single nucleotide variant Isolated microphthalmia 5 [RCV002194582] Chr11:119344708 [GRCh38]
Chr11:119215418 [GRCh37]
Chr11:11q23.3		 likely benign
NM_031433.4(MFRP):c.630C>G (p.Gly210=) single nucleotide variant Isolated microphthalmia 5 [RCV002195516] Chr11:119345431 [GRCh38]
Chr11:119216141 [GRCh37]
Chr11:11q23.3		 likely benign
NM_031433.4(MFRP):c.642-11G>C single nucleotide variant Isolated microphthalmia 5 [RCV002197389] Chr11:119345015 [GRCh38]
Chr11:119215725 [GRCh37]
Chr11:11q23.3		 likely benign
NM_031433.4(MFRP):c.642-15C>A single nucleotide variant Isolated microphthalmia 5 [RCV002200840] Chr11:119345019 [GRCh38]
Chr11:119215729 [GRCh37]
Chr11:11q23.3		 likely benign
NM_031433.4(MFRP):c.1500C>G (p.Val500=) single nucleotide variant Isolated microphthalmia 5 [RCV002076196] Chr11:119341872 [GRCh38]
Chr11:119212582 [GRCh37]
Chr11:11q23.3		 likely benign
NM_031433.4(MFRP):c.441C>T (p.Leu147=) single nucleotide variant Isolated microphthalmia 5 [RCV002201177] Chr11:119345620 [GRCh38]
Chr11:119216330 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001278431.2(C1QTNF5):c.240C>T (p.Pro80=) single nucleotide variant not provided [RCV002212483] Chr11:119339823 [GRCh38]
Chr11:119210533 [GRCh37]
Chr11:11q23.3		 likely benign
NM_031433.4(MFRP):c.1437C>T (p.Tyr479=) single nucleotide variant Isolated microphthalmia 5 [RCV002146454] Chr11:119341935 [GRCh38]
Chr11:119212645 [GRCh37]
Chr11:11q23.3		 likely benign
NM_031433.4(MFRP):c.1388-12C>T single nucleotide variant Isolated microphthalmia 5 [RCV002149840] Chr11:119341996 [GRCh38]
Chr11:119212706 [GRCh37]
Chr11:11q23.3		 likely benign
NM_031433.4(MFRP):c.772+18T>C single nucleotide variant Isolated microphthalmia 5 [RCV002150087] Chr11:119344856 [GRCh38]
Chr11:119215566 [GRCh37]
Chr11:11q23.3		 likely benign
NM_031433.4(MFRP):c.921C>T (p.Gly307=) single nucleotide variant Isolated microphthalmia 5 [RCV002159181] Chr11:119344369 [GRCh38]
Chr11:119215079 [GRCh37]
Chr11:11q23.3		 likely benign
NM_031433.4(MFRP):c.158-17C>T single nucleotide variant Isolated microphthalmia 5 [RCV002170102] Chr11:119346176 [GRCh38]
Chr11:119216886 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001278431.2(C1QTNF5):c.214+12_214+13inv inversion not provided [RCV002125187] Chr11:119340171..119340172 [GRCh38]
Chr11:119210881..119210882 [GRCh37]
Chr11:11q23.3		 likely benign
NM_031433.4(MFRP):c.165T>C (p.Arg55=) single nucleotide variant Isolated microphthalmia 5 [RCV002181499] Chr11:119346152 [GRCh38]
Chr11:119216862 [GRCh37]
Chr11:11q23.3		 likely benign
NM_031433.4(MFRP):c.1230C>A (p.Thr410=) single nucleotide variant Isolated microphthalmia 5 [RCV002189521] Chr11:119342898 [GRCh38]
Chr11:119213608 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001278431.2(C1QTNF5):c.576G>C (p.Ser192=) single nucleotide variant not provided [RCV002075303] Chr11:119339487 [GRCh38]
Chr11:119210197 [GRCh37]
Chr11:11q23.3		 likely benign
NM_031433.4(MFRP):c.899-15del deletion Isolated microphthalmia 5 [RCV002214759] Chr11:119344406 [GRCh38]
Chr11:119215116 [GRCh37]
Chr11:11q23.3		 likely benign
NM_031433.4(MFRP):c.899-4A>G single nucleotide variant Isolated microphthalmia 5 [RCV002147501] Chr11:119344395 [GRCh38]
Chr11:119215105 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001278431.2(C1QTNF5):c.215-32_215-11dup duplication not provided [RCV002153460] Chr11:119339858..119339859 [GRCh38]
Chr11:119210568..119210569 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001278431.2(C1QTNF5):c.36G>A (p.Leu12=) single nucleotide variant not provided [RCV002104482] Chr11:119340362 [GRCh38]
Chr11:119211072 [GRCh37]
Chr11:11q23.3		 benign
NM_031433.4(MFRP):c.158-19C>T single nucleotide variant Isolated microphthalmia 5 [RCV002191701] Chr11:119346178 [GRCh38]
Chr11:119216888 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001278431.2(C1QTNF5):c.36G>C (p.Leu12=) single nucleotide variant not provided [RCV002151823] Chr11:119340362 [GRCh38]
Chr11:119211072 [GRCh37]
Chr11:11q23.3		 likely benign
NM_031433.4(MFRP):c.1255+15G>T single nucleotide variant Isolated microphthalmia 5 [RCV002107137] Chr11:119342858 [GRCh38]
Chr11:119213568 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001278431.2(C1QTNF5):c.215-4G>A single nucleotide variant not provided [RCV002196433] Chr11:119339852 [GRCh38]
Chr11:119210562 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001278431.2(C1QTNF5):c.192G>A (p.Glu64=) single nucleotide variant not provided [RCV002155731] Chr11:119340206 [GRCh38]
Chr11:119210916 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001278431.2(C1QTNF5):c.215-8C>T single nucleotide variant not provided [RCV002139236] Chr11:119339856 [GRCh38]
Chr11:119210566 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001278431.2(C1QTNF5):c.414C>T (p.Ala138=) single nucleotide variant not provided [RCV002082639] Chr11:119339649 [GRCh38]
Chr11:119210359 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001278431.2(C1QTNF5):c.174G>T (p.Ala58=) single nucleotide variant not provided [RCV002178994] Chr11:119340224 [GRCh38]
Chr11:119210934 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001278431.2(C1QTNF5):c.214+13C>T single nucleotide variant not provided [RCV002200086] Chr11:119340171 [GRCh38]
Chr11:119210881 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001278431.2(C1QTNF5):c.215-13G>A single nucleotide variant not provided [RCV002180219] Chr11:119339861 [GRCh38]
Chr11:119210571 [GRCh37]
Chr11:11q23.3		 likely benign
NC_000011.9:g.(?_119103138)_(121060609_?)dup duplication not provided [RCV003116365] Chr11:119103138..121060609 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.1186T>C (p.Phe396Leu) single nucleotide variant Inborn genetic diseases [RCV003280365] Chr11:119342942 [GRCh38]
Chr11:119213652 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001278431.2(C1QTNF5):c.562C>A (p.Pro188Thr) single nucleotide variant Late-onset retinal degeneration [RCV002250440]|Retinal dystrophy [RCV004816986] Chr11:119339501 [GRCh38]
Chr11:119210211 [GRCh37]
Chr11:11q23.3		 pathogenic|likely pathogenic
NM_031433.4(MFRP):c.662_663insT (p.Thr223fs) insertion Isolated microphthalmia 5 [RCV003097684]|not provided [RCV002284955] Chr11:119344983..119344984 [GRCh38]
Chr11:119215693..119215694 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_031433.4(MFRP):c.443T>C (p.Leu148Pro) single nucleotide variant Isolated microphthalmia 5 [RCV002295874] Chr11:119345618 [GRCh38]
Chr11:119216328 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.1167C>G (p.His389Gln) single nucleotide variant Isolated microphthalmia 5 [RCV002296103] Chr11:119342961 [GRCh38]
Chr11:119213671 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.428-19C>G single nucleotide variant Isolated microphthalmia 5 [RCV002730963] Chr11:119345652 [GRCh38]
Chr11:119216362 [GRCh37]
Chr11:11q23.3		 likely benign
NM_031433.4(MFRP):c.444C>T (p.Leu148=) single nucleotide variant Isolated microphthalmia 5 [RCV002751108] Chr11:119345617 [GRCh38]
Chr11:119216327 [GRCh37]
Chr11:11q23.3		 likely benign
NM_031433.4(MFRP):c.427+18A>T single nucleotide variant Isolated microphthalmia 5 [RCV002774991] Chr11:119345755 [GRCh38]
Chr11:119216465 [GRCh37]
Chr11:11q23.3		 likely benign
NM_031433.4(MFRP):c.122A>G (p.Glu41Gly) single nucleotide variant Isolated microphthalmia 5 [RCV002512438] Chr11:119346307 [GRCh38]
Chr11:119217017 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.758T>C (p.Met253Thr) single nucleotide variant Inborn genetic diseases [RCV004070470]|Isolated microphthalmia 5 [RCV002615972] Chr11:119344888 [GRCh38]
Chr11:119215598 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.1125-20C>T single nucleotide variant Isolated microphthalmia 5 [RCV002730252] Chr11:119343023 [GRCh38]
Chr11:119213733 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001278431.2(C1QTNF5):c.152G>C (p.Gly51Ala) single nucleotide variant not provided [RCV002838129] Chr11:119340246 [GRCh38]
Chr11:119210956 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.1515+13G>C single nucleotide variant Isolated microphthalmia 5 [RCV003095475] Chr11:119341844 [GRCh38]
Chr11:119212554 [GRCh37]
Chr11:11q23.3		 likely benign
NM_031433.4(MFRP):c.271+10C>A single nucleotide variant Isolated microphthalmia 5 [RCV002816077] Chr11:119346036 [GRCh38]
Chr11:119216746 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001278431.2(C1QTNF5):c.241G>A (p.Gly81Arg) single nucleotide variant not provided [RCV002614562] Chr11:119339822 [GRCh38]
Chr11:119210532 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.1385C>G (p.Pro462Arg) single nucleotide variant Isolated microphthalmia 5 [RCV002819378] Chr11:119342598 [GRCh38]
Chr11:119213308 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.773-17C>G single nucleotide variant Isolated microphthalmia 5 [RCV002818969] Chr11:119344774 [GRCh38]
Chr11:119215484 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001278431.2(C1QTNF5):c.329G>T (p.Arg110Leu) single nucleotide variant not provided [RCV003073780] Chr11:119339734 [GRCh38]
Chr11:119210444 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.582G>A (p.Val194=) single nucleotide variant Isolated microphthalmia 5 [RCV002617836] Chr11:119345479 [GRCh38]
Chr11:119216189 [GRCh37]
Chr11:11q23.3		 likely benign
NM_031433.4(MFRP):c.661C>A (p.Pro221Thr) single nucleotide variant Isolated microphthalmia 5 [RCV003095784] Chr11:119344985 [GRCh38]
Chr11:119215695 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.642-19C>G single nucleotide variant Isolated microphthalmia 5 [RCV002904588] Chr11:119345023 [GRCh38]
Chr11:119215733 [GRCh37]
Chr11:11q23.3		 likely benign
NM_031433.4(MFRP):c.665C>T (p.Pro222Leu) single nucleotide variant Isolated microphthalmia 5 [RCV002775762] Chr11:119344981 [GRCh38]
Chr11:119215691 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001278431.2(C1QTNF5):c.470C>T (p.Ala157Val) single nucleotide variant not provided [RCV003032431] Chr11:119339593 [GRCh38]
Chr11:119210303 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.1256-18T>C single nucleotide variant Isolated microphthalmia 5 [RCV003074184] Chr11:119342745 [GRCh38]
Chr11:119213455 [GRCh37]
Chr11:11q23.3		 likely benign
NM_031433.4(MFRP):c.898+7G>A single nucleotide variant Isolated microphthalmia 5 [RCV003033525] Chr11:119344625 [GRCh38]
Chr11:119215335 [GRCh37]
Chr11:11q23.3		 likely benign
NM_031433.4(MFRP):c.1634C>T (p.Ala545Val) single nucleotide variant Isolated microphthalmia 5 [RCV003075282] Chr11:119341654 [GRCh38]
Chr11:119212364 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001278431.2(C1QTNF5):c.601C>T (p.Pro201Ser) single nucleotide variant not provided [RCV003016437] Chr11:119339462 [GRCh38]
Chr11:119210172 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.294T>A (p.Ser98=) single nucleotide variant Isolated microphthalmia 5 [RCV002750973] Chr11:119345906 [GRCh38]
Chr11:119216616 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001278431.2(C1QTNF5):c.215-19C>T single nucleotide variant not provided [RCV002842483] Chr11:119339867 [GRCh38]
Chr11:119210577 [GRCh37]
Chr11:11q23.3		 likely benign
NM_031433.4(MFRP):c.1255+7G>T single nucleotide variant Isolated microphthalmia 5 [RCV002972117] Chr11:119342866 [GRCh38]
Chr11:119213576 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001278431.2(C1QTNF5):c.49C>T (p.Pro17Ser) single nucleotide variant not provided [RCV002775692] Chr11:119340349 [GRCh38]
Chr11:119211059 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.618T>G (p.Pro206=) single nucleotide variant Isolated microphthalmia 5 [RCV002750292] Chr11:119345443 [GRCh38]
Chr11:119216153 [GRCh37]
Chr11:11q23.3		 likely benign
NM_031433.4(MFRP):c.558C>T (p.Ile186=) single nucleotide variant Isolated microphthalmia 5 [RCV003076237] Chr11:119345503 [GRCh38]
Chr11:119216213 [GRCh37]
Chr11:11q23.3		 likely benign
NM_031433.4(MFRP):c.79G>C (p.Glu27Gln) single nucleotide variant Isolated microphthalmia 5 [RCV002617680] Chr11:119346350 [GRCh38]
Chr11:119217060 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.1578C>T (p.Pro526=) single nucleotide variant Isolated microphthalmia 5 [RCV002618615] Chr11:119341710 [GRCh38]
Chr11:119212420 [GRCh37]
Chr11:11q23.3		 likely benign
NM_031433.4(MFRP):c.279G>C (p.Gln93His) single nucleotide variant Isolated microphthalmia 5 [RCV003011862] Chr11:119345921 [GRCh38]
Chr11:119216631 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.124G>C (p.Asp42His) single nucleotide variant Isolated microphthalmia 5 [RCV002681382] Chr11:119346305 [GRCh38]
Chr11:119217015 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.328C>T (p.Leu110Phe) single nucleotide variant Isolated microphthalmia 5 [RCV002995181] Chr11:119345872 [GRCh38]
Chr11:119216582 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.1163C>T (p.Ser388Leu) single nucleotide variant Isolated microphthalmia 5 [RCV002914417] Chr11:119342965 [GRCh38]
Chr11:119213675 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.498C>G (p.Pro166=) single nucleotide variant Isolated microphthalmia 5 [RCV002870802] Chr11:119345563 [GRCh38]
Chr11:119216273 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.898+20G>T single nucleotide variant Isolated microphthalmia 5 [RCV002619423] Chr11:119344612 [GRCh38]
Chr11:119215322 [GRCh37]
Chr11:11q23.3		 likely benign
NM_031433.4(MFRP):c.570C>G (p.Ser190Arg) single nucleotide variant Isolated microphthalmia 5 [RCV002761311] Chr11:119345491 [GRCh38]
Chr11:119216201 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.640A>T (p.Arg214Trp) single nucleotide variant Isolated microphthalmia 5 [RCV002927599] Chr11:119345421 [GRCh38]
Chr11:119216131 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.772+15A>G single nucleotide variant Isolated microphthalmia 5 [RCV002640623] Chr11:119344859 [GRCh38]
Chr11:119215569 [GRCh37]
Chr11:11q23.3		 likely benign
NM_031433.4(MFRP):c.272-8G>A single nucleotide variant Isolated microphthalmia 5 [RCV003080055] Chr11:119345936 [GRCh38]
Chr11:119216646 [GRCh37]
Chr11:11q23.3		 likely benign
NM_031433.4(MFRP):c.1144C>T (p.Pro382Ser) single nucleotide variant Isolated microphthalmia 5 [RCV002591772] Chr11:119342984 [GRCh38]
Chr11:119213694 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.781G>A (p.Ala261Thr) single nucleotide variant Isolated microphthalmia 5 [RCV003002971] Chr11:119344749 [GRCh38]
Chr11:119215459 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.54+9C>T single nucleotide variant Isolated microphthalmia 5 [RCV003036689] Chr11:119346451 [GRCh38]
Chr11:119217161 [GRCh37]
Chr11:11q23.3		 likely benign
NM_031433.4(MFRP):c.443T>G (p.Leu148Arg) single nucleotide variant Isolated microphthalmia 5 [RCV003019765] Chr11:119345618 [GRCh38]
Chr11:119216328 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.921C>G (p.Gly307=) single nucleotide variant Isolated microphthalmia 5 [RCV003036613] Chr11:119344369 [GRCh38]
Chr11:119215079 [GRCh37]
Chr11:11q23.3		 likely benign
NM_031433.4(MFRP):c.901T>C (p.Cys301Arg) single nucleotide variant Isolated microphthalmia 5 [RCV002886154] Chr11:119344389 [GRCh38]
Chr11:119215099 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.612C>T (p.Leu204=) single nucleotide variant Isolated microphthalmia 5 [RCV002705608] Chr11:119345449 [GRCh38]
Chr11:119216159 [GRCh37]
Chr11:11q23.3		 likely benign
NM_031433.4(MFRP):c.1226C>A (p.Ala409Asp) single nucleotide variant Isolated microphthalmia 5 [RCV003020005] Chr11:119342902 [GRCh38]
Chr11:119213612 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.548A>G (p.Gln183Arg) single nucleotide variant Inborn genetic diseases [RCV004064711]|Isolated microphthalmia 5 [RCV002780521] Chr11:119345513 [GRCh38]
Chr11:119216223 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001278431.2(C1QTNF5):c.382G>C (p.Val128Leu) single nucleotide variant not provided [RCV002570043] Chr11:119339681 [GRCh38]
Chr11:119210391 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.493C>G (p.Pro165Ala) single nucleotide variant Inborn genetic diseases [RCV004642043]|Isolated microphthalmia 5 [RCV002796201] Chr11:119345568 [GRCh38]
Chr11:119216278 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.975+12G>C single nucleotide variant Isolated microphthalmia 5 [RCV002949701] Chr11:119344303 [GRCh38]
Chr11:119215013 [GRCh37]
Chr11:11q23.3		 likely benign
NM_031433.4(MFRP):c.385A>C (p.Lys129Gln) single nucleotide variant Isolated microphthalmia 5 [RCV002909612] Chr11:119345815 [GRCh38]
Chr11:119216525 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.1105G>A (p.Ala369Thr) single nucleotide variant Inborn genetic diseases [RCV002797958] Chr11:119343835 [GRCh38]
Chr11:119214545 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.317C>T (p.Pro106Leu) single nucleotide variant Inborn genetic diseases [RCV002924331] Chr11:119345883 [GRCh38]
Chr11:119216593 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.804C>A (p.Asp268Glu) single nucleotide variant Inborn genetic diseases [RCV002799623] Chr11:119344726 [GRCh38]
Chr11:119215436 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.1078G>T (p.Glu360Ter) single nucleotide variant Isolated microphthalmia 5 [RCV002592926] Chr11:119343862 [GRCh38]
Chr11:119214572 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_031433.4(MFRP):c.204C>G (p.Leu68=) single nucleotide variant Isolated microphthalmia 5 [RCV003055079] Chr11:119346113 [GRCh38]
Chr11:119216823 [GRCh37]
Chr11:11q23.3		 likely benign
NM_031433.4(MFRP):c.1124+5A>G single nucleotide variant Isolated microphthalmia 5 [RCV002619943]|Retinal dystrophy [RCV004818231] Chr11:119343811 [GRCh38]
Chr11:119214521 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.1015A>G (p.Ile339Val) single nucleotide variant Isolated microphthalmia 5 [RCV003078203] Chr11:119343925 [GRCh38]
Chr11:119214635 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.371C>T (p.Ala124Val) single nucleotide variant Isolated microphthalmia 5 [RCV002885804] Chr11:119345829 [GRCh38]
Chr11:119216539 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.663C>T (p.Pro221=) single nucleotide variant Isolated microphthalmia 5 [RCV003052910] Chr11:119344983 [GRCh38]
Chr11:119215693 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001278431.2(C1QTNF5):c.284C>A (p.Ala95Asp) single nucleotide variant not provided [RCV002706359] Chr11:119339779 [GRCh38]
Chr11:119210489 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.372A>G (p.Ala124=) single nucleotide variant Isolated microphthalmia 5 [RCV002695154] Chr11:119345828 [GRCh38]
Chr11:119216538 [GRCh37]
Chr11:11q23.3		 likely benign
NM_031433.4(MFRP):c.1508G>T (p.Gly503Val) single nucleotide variant Isolated microphthalmia 5 [RCV002913832] Chr11:119341864 [GRCh38]
Chr11:119212574 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.428-17A>G single nucleotide variant Isolated microphthalmia 5 [RCV002909201] Chr11:119345650 [GRCh38]
Chr11:119216360 [GRCh37]
Chr11:11q23.3		 likely benign
NM_031433.4(MFRP):c.734G>T (p.Gly245Val) single nucleotide variant Inborn genetic diseases [RCV002888147] Chr11:119344912 [GRCh38]
Chr11:119215622 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.237G>A (p.Leu79=) single nucleotide variant Isolated microphthalmia 5 [RCV003035509] Chr11:119346080 [GRCh38]
Chr11:119216790 [GRCh37]
Chr11:11q23.3		 likely benign
NM_031433.4(MFRP):c.898+17G>A single nucleotide variant Isolated microphthalmia 5 [RCV003018729] Chr11:119344615 [GRCh38]
Chr11:119215325 [GRCh37]
Chr11:11q23.3		 likely benign
NM_031433.4(MFRP):c.1150del (p.His384fs) deletion Isolated microphthalmia 5 [RCV003079179] Chr11:119342978 [GRCh38]
Chr11:119213688 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_031433.4(MFRP):c.1061G>A (p.Cys354Tyr) single nucleotide variant Isolated microphthalmia 5 [RCV003037496] Chr11:119343879 [GRCh38]
Chr11:119214589 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.622C>G (p.Pro208Ala) single nucleotide variant Isolated microphthalmia 5 [RCV003055134] Chr11:119345439 [GRCh38]
Chr11:119216149 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.1228_1234del (p.Thr410fs) deletion Isolated microphthalmia 5 [RCV002847950] Chr11:119342894..119342900 [GRCh38]
Chr11:119213604..119213610 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001278431.2(C1QTNF5):c.597G>A (p.Leu199=) single nucleotide variant not provided [RCV002795950] Chr11:119339466 [GRCh38]
Chr11:119210176 [GRCh37]
Chr11:11q23.3		 likely benign
NM_031433.4(MFRP):c.171A>G (p.Arg57=) single nucleotide variant Isolated microphthalmia 5 [RCV002622656] Chr11:119346146 [GRCh38]
Chr11:119216856 [GRCh37]
Chr11:11q23.3		 likely benign
NM_031433.4(MFRP):c.452C>T (p.Pro151Leu) single nucleotide variant Isolated microphthalmia 5 [RCV002957726] Chr11:119345609 [GRCh38]
Chr11:119216319 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.297G>A (p.Gly99=) single nucleotide variant Isolated microphthalmia 5 [RCV002644123] Chr11:119345903 [GRCh38]
Chr11:119216613 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001278431.2(C1QTNF5):c.215-18G>C single nucleotide variant not provided [RCV003043651] Chr11:119339866 [GRCh38]
Chr11:119210576 [GRCh37]
Chr11:11q23.3		 likely benign
NM_031433.4(MFRP):c.641+8C>T single nucleotide variant Isolated microphthalmia 5 [RCV003059013] Chr11:119345412 [GRCh38]
Chr11:119216122 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001278431.2(C1QTNF5):c.215-8C>G single nucleotide variant not provided [RCV002957553] Chr11:119339856 [GRCh38]
Chr11:119210566 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.349C>A (p.Pro117Thr) single nucleotide variant Isolated microphthalmia 5 [RCV002801674] Chr11:119345851 [GRCh38]
Chr11:119216561 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.1738T>C (p.Ter580Arg) single nucleotide variant Isolated microphthalmia 5 [RCV003025357] Chr11:119341550 [GRCh38]
Chr11:119212260 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.976-7C>T single nucleotide variant Isolated microphthalmia 5 [RCV002828947] Chr11:119343971 [GRCh38]
Chr11:119214681 [GRCh37]
Chr11:11q23.3		 likely benign
NM_031433.4(MFRP):c.67A>T (p.Asn23Tyr) single nucleotide variant Inborn genetic diseases [RCV002929729] Chr11:119346362 [GRCh38]
Chr11:119217072 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001278431.2(C1QTNF5):c.71T>C (p.Ile24Thr) single nucleotide variant Inborn genetic diseases [RCV003382932]|Retinal dystrophy [RCV004817109]|not provided [RCV002741226] Chr11:119340327 [GRCh38]
Chr11:119211037 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001278431.2(C1QTNF5):c.351G>A (p.Pro117=) single nucleotide variant not provided [RCV002710915] Chr11:119339712 [GRCh38]
Chr11:119210422 [GRCh37]
Chr11:11q23.3		 likely benign
NM_031433.4(MFRP):c.1719G>A (p.Leu573=) single nucleotide variant Isolated microphthalmia 5 [RCV002953967] Chr11:119341569 [GRCh38]
Chr11:119212279 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001278431.2(C1QTNF5):c.390G>A (p.Val130=) single nucleotide variant not provided [RCV003084514] Chr11:119339673 [GRCh38]
Chr11:119210383 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001278431.2(C1QTNF5):c.503T>C (p.Leu168Pro) single nucleotide variant not provided [RCV002801778] Chr11:119339560 [GRCh38]
Chr11:119210270 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001278431.2(C1QTNF5):c.76A>G (p.Ser26Gly) single nucleotide variant Inborn genetic diseases [RCV003382931]|Retinal dystrophy [RCV004817108]|not provided [RCV002741225] Chr11:119340322 [GRCh38]
Chr11:119211032 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001278431.2(C1QTNF5):c.214+16C>T single nucleotide variant not provided [RCV002805682] Chr11:119340168 [GRCh38]
Chr11:119210878 [GRCh37]
Chr11:11q23.3		 benign
NM_001278431.2(C1QTNF5):c.304C>T (p.Pro102Ser) single nucleotide variant not provided [RCV002667451] Chr11:119339759 [GRCh38]
Chr11:119210469 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.1427G>C (p.Gly476Ala) single nucleotide variant Isolated microphthalmia 5 [RCV003040442] Chr11:119341945 [GRCh38]
Chr11:119212655 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001278431.2(C1QTNF5):c.711C>T (p.His237=) single nucleotide variant not provided [RCV002700980] Chr11:119339352 [GRCh38]
Chr11:119210062 [GRCh37]
Chr11:11q23.3		 likely benign
NM_031433.4(MFRP):c.47C>T (p.Ser16Leu) single nucleotide variant Isolated microphthalmia 5 [RCV003022461] Chr11:119346467 [GRCh38]
Chr11:119217177 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001278431.2(C1QTNF5):c.222G>A (p.Pro74=) single nucleotide variant not provided [RCV003005331] Chr11:119339841 [GRCh38]
Chr11:119210551 [GRCh37]
Chr11:11q23.3		 likely benign
NM_031433.4(MFRP):c.1493T>C (p.Val498Ala) single nucleotide variant Isolated microphthalmia 5 [RCV002893920] Chr11:119341879 [GRCh38]
Chr11:119212589 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.527T>G (p.Val176Gly) single nucleotide variant Isolated microphthalmia 5 [RCV002765589] Chr11:119345534 [GRCh38]
Chr11:119216244 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001278431.2(C1QTNF5):c.199G>A (p.Glu67Lys) single nucleotide variant Inborn genetic diseases [RCV002788639] Chr11:119340199 [GRCh38]
Chr11:119210909 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001278431.2(C1QTNF5):c.220C>T (p.Pro74Ser) single nucleotide variant not provided [RCV002667452] Chr11:119339843 [GRCh38]
Chr11:119210553 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.642-20C>T single nucleotide variant Isolated microphthalmia 5 [RCV003042691] Chr11:119345024 [GRCh38]
Chr11:119215734 [GRCh37]
Chr11:11q23.3		 likely benign
NM_031433.4(MFRP):c.9C>T (p.Asp3=) single nucleotide variant Isolated microphthalmia 5 [RCV003042071] Chr11:119346505 [GRCh38]
Chr11:119217215 [GRCh37]
Chr11:11q23.3		 likely benign
NM_031433.4(MFRP):c.255G>T (p.Val85=) single nucleotide variant Isolated microphthalmia 5 [RCV003031317] Chr11:119346062 [GRCh38]
Chr11:119216772 [GRCh37]
Chr11:11q23.3		 likely benign
NM_031433.4(MFRP):c.997G>A (p.Val333Met) single nucleotide variant Isolated microphthalmia 5 [RCV003065895] Chr11:119343943 [GRCh38]
Chr11:119214653 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001278431.2(C1QTNF5):c.262C>A (p.Pro88Thr) single nucleotide variant not provided [RCV002576920] Chr11:119339801 [GRCh38]
Chr11:119210511 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.1458C>G (p.Asn486Lys) single nucleotide variant Isolated microphthalmia 5 [RCV003031326] Chr11:119341914 [GRCh38]
Chr11:119212624 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.842G>C (p.Gly281Ala) single nucleotide variant Isolated microphthalmia 5 [RCV003045006] Chr11:119344688 [GRCh38]
Chr11:119215398 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.444C>G (p.Leu148=) single nucleotide variant Isolated microphthalmia 5 [RCV002962811] Chr11:119345617 [GRCh38]
Chr11:119216327 [GRCh37]
Chr11:11q23.3		 likely benign
NM_031433.4(MFRP):c.381C>T (p.Thr127=) single nucleotide variant Isolated microphthalmia 5 [RCV002671096] Chr11:119345819 [GRCh38]
Chr11:119216529 [GRCh37]
Chr11:11q23.3		 likely benign
NM_031433.4(MFRP):c.365C>T (p.Ser122Phe) single nucleotide variant Isolated microphthalmia 5 [RCV002899535] Chr11:119345835 [GRCh38]
Chr11:119216545 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.959A>G (p.Gln320Arg) single nucleotide variant Isolated microphthalmia 5 [RCV002646256] Chr11:119344331 [GRCh38]
Chr11:119215041 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.194T>C (p.Phe65Ser) single nucleotide variant Isolated microphthalmia 5 [RCV003029468] Chr11:119346123 [GRCh38]
Chr11:119216833 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.1513A>C (p.Lys505Gln) single nucleotide variant Isolated microphthalmia 5 [RCV002629427] Chr11:119341859 [GRCh38]
Chr11:119212569 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.475A>G (p.Asn159Asp) single nucleotide variant Isolated microphthalmia 5 [RCV002650437] Chr11:119345586 [GRCh38]
Chr11:119216296 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.956A>C (p.Gln319Pro) single nucleotide variant Inborn genetic diseases [RCV004073196]|Isolated microphthalmia 5 [RCV003086457] Chr11:119344334 [GRCh38]
Chr11:119215044 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.898+18G>A single nucleotide variant Isolated microphthalmia 5 [RCV002856245] Chr11:119344614 [GRCh38]
Chr11:119215324 [GRCh37]
Chr11:11q23.3		 likely benign
NM_031433.4(MFRP):c.364T>C (p.Ser122Pro) single nucleotide variant Isolated microphthalmia 5 [RCV003090832] Chr11:119345836 [GRCh38]
Chr11:119216546 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.272-3C>T single nucleotide variant Isolated microphthalmia 5 [RCV002720333] Chr11:119345931 [GRCh38]
Chr11:119216641 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.1515+20G>A single nucleotide variant Isolated microphthalmia 5 [RCV002810866] Chr11:119341837 [GRCh38]
Chr11:119212547 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001278431.2(C1QTNF5):c.276C>T (p.Thr92=) single nucleotide variant not provided [RCV002805976] Chr11:119339787 [GRCh38]
Chr11:119210497 [GRCh37]
Chr11:11q23.3		 likely benign
NM_031433.4(MFRP):c.1484A>C (p.Glu495Ala) single nucleotide variant Isolated microphthalmia 5 [RCV003064217] Chr11:119341888 [GRCh38]
Chr11:119212598 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.483A>G (p.Pro161=) single nucleotide variant Isolated microphthalmia 5 [RCV003089594] Chr11:119345578 [GRCh38]
Chr11:119216288 [GRCh37]
Chr11:11q23.3		 likely benign
NM_031433.4(MFRP):c.1255+15G>A single nucleotide variant Isolated microphthalmia 5 [RCV002720978] Chr11:119342858 [GRCh38]
Chr11:119213568 [GRCh37]
Chr11:11q23.3		 likely benign
NM_031433.4(MFRP):c.337ACC[5] (p.Thr116_Pro117insThr) microsatellite Isolated microphthalmia 5 [RCV002963213] Chr11:119345851..119345852 [GRCh38]
Chr11:119216561..119216562 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001278431.2(C1QTNF5):c.214+13C>A single nucleotide variant not provided [RCV002715946] Chr11:119340171 [GRCh38]
Chr11:119210881 [GRCh37]
Chr11:11q23.3		 likely benign
NM_031433.4(MFRP):c.960G>A (p.Gln320=) single nucleotide variant Isolated microphthalmia 5 [RCV003044098] Chr11:119344330 [GRCh38]
Chr11:119215040 [GRCh37]
Chr11:11q23.3		 likely benign
NM_031433.4(MFRP):c.1107C>T (p.Ala369=) single nucleotide variant Isolated microphthalmia 5 [RCV003030514] Chr11:119343833 [GRCh38]
Chr11:119214543 [GRCh37]
Chr11:11q23.3		 likely benign
NM_031433.4(MFRP):c.353C>T (p.Thr118Ile) single nucleotide variant Isolated microphthalmia 5 [RCV003065684] Chr11:119345847 [GRCh38]
Chr11:119216557 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.1426G>A (p.Gly476Ser) single nucleotide variant Isolated microphthalmia 5 [RCV002647969] Chr11:119341946 [GRCh38]
Chr11:119212656 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.332C>A (p.Thr111Asn) single nucleotide variant Isolated microphthalmia 5 [RCV002600384] Chr11:119345868 [GRCh38]
Chr11:119216578 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.641+14dup duplication Isolated microphthalmia 5 [RCV002677019] Chr11:119345405..119345406 [GRCh38]
Chr11:119216115..119216116 [GRCh37]
Chr11:11q23.3		 likely benign
NM_031433.4(MFRP):c.1410G>A (p.Gln470=) single nucleotide variant Isolated microphthalmia 5 [RCV002725998] Chr11:119341962 [GRCh38]
Chr11:119212672 [GRCh37]
Chr11:11q23.3		 likely benign
NM_031433.4(MFRP):c.1132G>A (p.Gly378Arg) single nucleotide variant Isolated microphthalmia 5 [RCV003093423] Chr11:119342996 [GRCh38]
Chr11:119213706 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.851A>G (p.Asn284Ser) single nucleotide variant Isolated microphthalmia 5 [RCV003066807] Chr11:119344679 [GRCh38]
Chr11:119215389 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.492_493delinsTG (p.Pro165Ala) indel Isolated microphthalmia 5 [RCV003071347] Chr11:119345568..119345569 [GRCh38]
Chr11:119216278..119216279 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001278431.2(C1QTNF5):c.379C>A (p.Arg127Ser) single nucleotide variant not provided [RCV002589222] Chr11:119339684 [GRCh38]
Chr11:119210394 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001278431.2(C1QTNF5):c.293G>T (p.Cys98Phe) single nucleotide variant not provided [RCV002814468] Chr11:119339770 [GRCh38]
Chr11:119210480 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.587C>T (p.Ser196Phe) single nucleotide variant Isolated microphthalmia 5 [RCV003070497] Chr11:119345474 [GRCh38]
Chr11:119216184 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.427+14G>T single nucleotide variant Isolated microphthalmia 5 [RCV002586987] Chr11:119345759 [GRCh38]
Chr11:119216469 [GRCh37]
Chr11:11q23.3		 likely benign
NM_031433.4(MFRP):c.32T>C (p.Met11Thr) single nucleotide variant Inborn genetic diseases [RCV002722914] Chr11:119346482 [GRCh38]
Chr11:119217192 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.840T>C (p.Asp280=) single nucleotide variant Isolated microphthalmia 5 [RCV002607937] Chr11:119344690 [GRCh38]
Chr11:119215400 [GRCh37]
Chr11:11q23.3		 likely benign
NM_031433.4(MFRP):c.231C>A (p.Leu77=) single nucleotide variant Isolated microphthalmia 5 [RCV003052153] Chr11:119346086 [GRCh38]
Chr11:119216796 [GRCh37]
Chr11:11q23.3		 likely benign
NM_031433.4(MFRP):c.540_541inv (p.Ala181Thr) inversion Isolated microphthalmia 5 [RCV002634022] Chr11:119345520..119345521 [GRCh38]
Chr11:119216230..119216231 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.342C>T (p.Thr114=) single nucleotide variant Isolated microphthalmia 5 [RCV003093295] Chr11:119345858 [GRCh38]
Chr11:119216568 [GRCh37]
Chr11:11q23.3		 likely benign
NM_031433.4(MFRP):c.504C>T (p.Thr168=) single nucleotide variant Isolated microphthalmia 5 [RCV002610502] Chr11:119345557 [GRCh38]
Chr11:119216267 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.1333_1334del (p.Asp445fs) microsatellite Isolated microphthalmia 5 [RCV002612588] Chr11:119342649..119342650 [GRCh38]
Chr11:119213359..119213360 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001278431.2(C1QTNF5):c.111G>A (p.Thr37=) single nucleotide variant not provided [RCV002608828] Chr11:119340287 [GRCh38]
Chr11:119210997 [GRCh37]
Chr11:11q23.3		 likely benign
NM_031433.4(MFRP):c.1579C>T (p.Arg527Cys) single nucleotide variant Inborn genetic diseases [RCV003355062] Chr11:119341709 [GRCh38]
Chr11:119212419 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.102C>A (p.Cys34Ter) single nucleotide variant Isolated microphthalmia 5 [RCV001904628] Chr11:119346327 [GRCh38]
Chr11:119217037 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_031433.4(MFRP):c.1271G>C (p.Ser424Thr) single nucleotide variant Isolated microphthalmia 5 [RCV001989550] Chr11:119342712 [GRCh38]
Chr11:119213422 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.322G>A (p.Gly108Arg) single nucleotide variant Isolated microphthalmia 5 [RCV001913245] Chr11:119345878 [GRCh38]
Chr11:119216588 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.642-16A>G single nucleotide variant Isolated microphthalmia 5 [RCV002083734] Chr11:119345020 [GRCh38]
Chr11:119215730 [GRCh37]
Chr11:11q23.3		 likely benign
NM_031433.4(MFRP):c.465C>T (p.Phe155=) single nucleotide variant Isolated microphthalmia 5 [RCV002215260]|MFRP-related disorder [RCV004543752] Chr11:119345596 [GRCh38]
Chr11:119216306 [GRCh37]
Chr11:11q23.3		 likely benign
NM_031433.4(MFRP):c.772+14_772+15delinsAT indel Isolated microphthalmia 5 [RCV002195373] Chr11:119344859..119344860 [GRCh38]
Chr11:119215569..119215570 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001278431.2(C1QTNF5):c.215-14C>T single nucleotide variant not provided [RCV002153060] Chr11:119339862 [GRCh38]
Chr11:119210572 [GRCh37]
Chr11:11q23.3		 likely benign
NM_031433.4(MFRP):c.57C>G (p.Thr19=) single nucleotide variant Isolated microphthalmia 5 [RCV002074577] Chr11:119346372 [GRCh38]
Chr11:119217082 [GRCh37]
Chr11:11q23.3		 likely benign
NM_031433.4(MFRP):c.1068T>C (p.Phe356=) single nucleotide variant Isolated microphthalmia 5 [RCV002167532] Chr11:119343872 [GRCh38]
Chr11:119214582 [GRCh37]
Chr11:11q23.3		 likely benign
NC_000011.9:g.(?_117209303)_(120133495_?)dup duplication not provided [RCV003122151] Chr11:117209303..120133495 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.898+19G>C single nucleotide variant Isolated microphthalmia 5 [RCV002880944] Chr11:119344613 [GRCh38]
Chr11:119215323 [GRCh37]
Chr11:11q23.3		 likely benign
NM_031433.4(MFRP):c.343A>C (p.Thr115Pro) single nucleotide variant Isolated microphthalmia 5 [RCV002616653] Chr11:119345857 [GRCh38]
Chr11:119216567 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001278431.2(C1QTNF5):c.629G>A (p.Gly210Asp) single nucleotide variant not provided [RCV003036909] Chr11:119339434 [GRCh38]
Chr11:119210144 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.641+11C>T single nucleotide variant Isolated microphthalmia 5 [RCV002958726] Chr11:119345409 [GRCh38]
Chr11:119216119 [GRCh37]
Chr11:11q23.3		 likely benign
NM_031433.4(MFRP):c.170G>A (p.Arg57Gln) single nucleotide variant Isolated microphthalmia 5 [RCV002625077] Chr11:119346147 [GRCh38]
Chr11:119216857 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.200G>C (p.Trp67Ser) single nucleotide variant Inborn genetic diseases [RCV004066589]|Isolated microphthalmia 5 [RCV002605540] Chr11:119346117 [GRCh38]
Chr11:119216827 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.862G>A (p.Gly288Ser) single nucleotide variant Isolated microphthalmia 5 [RCV002606301] Chr11:119344668 [GRCh38]
Chr11:119215378 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.1483G>A (p.Glu495Lys) single nucleotide variant Inborn genetic diseases [RCV003362467] Chr11:119341889 [GRCh38]
Chr11:119212599 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.924C>G (p.Leu308=) single nucleotide variant not provided [RCV003424850] Chr11:119344366 [GRCh38]
Chr11:119215076 [GRCh37]
Chr11:11q23.3		 likely benign
Single allele duplication not provided [RCV003448710] Chr11:102134973..134945611 [GRCh37]
Chr11:11q22.2-25		 pathogenic
NM_031433.4(MFRP):c.1731C>G (p.Ala577=) single nucleotide variant Isolated microphthalmia 5 [RCV003778381]|not provided [RCV003424849] Chr11:119341557 [GRCh38]
Chr11:119212267 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001278431.2(C1QTNF5):c.116G>A (p.Gly39Asp) single nucleotide variant not provided [RCV003424848] Chr11:119340282 [GRCh38]
Chr11:119210992 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.272-18C>T single nucleotide variant Isolated microphthalmia 5 [RCV003611784] Chr11:119345946 [GRCh38]
Chr11:119216656 [GRCh37]
Chr11:11q23.3		 likely benign
NM_031433.4(MFRP):c.321C>G (p.Ala107=) single nucleotide variant Isolated microphthalmia 5 [RCV003612624] Chr11:119345879 [GRCh38]
Chr11:119216589 [GRCh37]
Chr11:11q23.3		 likely benign
NM_031433.4(MFRP):c.641+17C>G single nucleotide variant Isolated microphthalmia 5 [RCV003613004] Chr11:119345403 [GRCh38]
Chr11:119216113 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001278431.2(C1QTNF5):c.285C>A (p.Ala95=) single nucleotide variant not provided [RCV003881491] Chr11:119339778 [GRCh38]
Chr11:119210488 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001278431.2(C1QTNF5):c.110C>T (p.Thr37Met) single nucleotide variant not provided [RCV003716458] Chr11:119340288 [GRCh38]
Chr11:119210998 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.666C>T (p.Pro222=) single nucleotide variant Isolated microphthalmia 5 [RCV003611325] Chr11:119344980 [GRCh38]
Chr11:119215690 [GRCh37]
Chr11:11q23.3		 likely benign
NM_031433.4(MFRP):c.657G>T (p.Val219=) single nucleotide variant Isolated microphthalmia 5 [RCV003504198]|MFRP-related disorder [RCV004540711] Chr11:119344989 [GRCh38]
Chr11:119215699 [GRCh37]
Chr11:11q23.3		 likely benign
NM_031433.4(MFRP):c.1124+1G>A single nucleotide variant Isolated microphthalmia 5 [RCV003504211] Chr11:119343815 [GRCh38]
Chr11:119214525 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_031433.4(MFRP):c.1635G>T (p.Ala545=) single nucleotide variant Isolated microphthalmia 5 [RCV003611717] Chr11:119341653 [GRCh38]
Chr11:119212363 [GRCh37]
Chr11:11q23.3		 likely benign
NM_031433.4(MFRP):c.642-20C>G single nucleotide variant Isolated microphthalmia 5 [RCV003611739] Chr11:119345024 [GRCh38]
Chr11:119215734 [GRCh37]
Chr11:11q23.3		 likely benign
NM_031433.4(MFRP):c.909dup (p.Asn304fs) duplication Isolated microphthalmia 5 [RCV003611743] Chr11:119344380..119344381 [GRCh38]
Chr11:119215090..119215091 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_031433.4(MFRP):c.271+12G>A single nucleotide variant Isolated microphthalmia 5 [RCV003612430] Chr11:119346034 [GRCh38]
Chr11:119216744 [GRCh37]
Chr11:11q23.3		 likely benign
NM_031433.4(MFRP):c.271+19C>T single nucleotide variant Isolated microphthalmia 5 [RCV003612932] Chr11:119346027 [GRCh38]
Chr11:119216737 [GRCh37]
Chr11:11q23.3		 likely benign
NM_031433.4(MFRP):c.465C>A (p.Phe155Leu) single nucleotide variant Isolated microphthalmia 5 [RCV003613523] Chr11:119345596 [GRCh38]
Chr11:119216306 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.1362C>G (p.Cys454Trp) single nucleotide variant Isolated microphthalmia 5 [RCV003878708] Chr11:119342621 [GRCh38]
Chr11:119213331 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.1506_1507del (p.Ser502fs) deletion Isolated microphthalmia 5 [RCV003503626] Chr11:119341865..119341866 [GRCh38]
Chr11:119212575..119212576 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_031433.4(MFRP):c.630C>T (p.Gly210=) single nucleotide variant Isolated microphthalmia 5 [RCV003504454] Chr11:119345431 [GRCh38]
Chr11:119216141 [GRCh37]
Chr11:11q23.3		 likely benign
NM_031433.4(MFRP):c.1044G>A (p.Leu348=) single nucleotide variant Isolated microphthalmia 5 [RCV003612616] Chr11:119343896 [GRCh38]
Chr11:119214606 [GRCh37]
Chr11:11q23.3		 likely benign
NM_031433.4(MFRP):c.513G>A (p.Val171=) single nucleotide variant Isolated microphthalmia 5 [RCV003612674] Chr11:119345548 [GRCh38]
Chr11:119216258 [GRCh37]
Chr11:11q23.3		 likely benign
NM_031433.4(MFRP):c.499_500dup (p.Asn167fs) duplication Isolated microphthalmia 5 [RCV003612760] Chr11:119345560..119345561 [GRCh38]
Chr11:119216270..119216271 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_031433.4(MFRP):c.348C>G (p.Thr116=) single nucleotide variant Isolated microphthalmia 5 [RCV003612898] Chr11:119345852 [GRCh38]
Chr11:119216562 [GRCh37]
Chr11:11q23.3		 likely benign
NM_031433.4(MFRP):c.976-4C>G single nucleotide variant Isolated microphthalmia 5 [RCV003612928] Chr11:119343968 [GRCh38]
Chr11:119214678 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001278431.2(C1QTNF5):c.196G>A (p.Gly66Ser) single nucleotide variant not provided [RCV003692567] Chr11:119340202 [GRCh38]
Chr11:119210912 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.772+11T>C single nucleotide variant Isolated microphthalmia 5 [RCV003503257] Chr11:119344863 [GRCh38]
Chr11:119215573 [GRCh37]
Chr11:11q23.3		 likely benign
NM_031433.4(MFRP):c.577_578del (p.Ser193fs) microsatellite Isolated microphthalmia 5 [RCV003612216] Chr11:119345483..119345484 [GRCh38]
Chr11:119216193..119216194 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_031433.4(MFRP):c.429C>T (p.Thr143=) single nucleotide variant Isolated microphthalmia 5 [RCV003612093] Chr11:119345632 [GRCh38]
Chr11:119216342 [GRCh37]
Chr11:11q23.3		 likely benign
NM_031433.4(MFRP):c.717C>T (p.Ser239=) single nucleotide variant Isolated microphthalmia 5 [RCV003612007] Chr11:119344929 [GRCh38]
Chr11:119215639 [GRCh37]
Chr11:11q23.3		 likely benign
NM_031433.4(MFRP):c.642-18del deletion Isolated microphthalmia 5 [RCV003613411] Chr11:119345022 [GRCh38]
Chr11:119215732 [GRCh37]
Chr11:11q23.3		 benign
NM_001278431.2(C1QTNF5):c.30G>C (p.Leu10=) single nucleotide variant not provided [RCV003715771] Chr11:119340368 [GRCh38]
Chr11:119211078 [GRCh37]
Chr11:11q23.3		 likely benign
NM_031433.4(MFRP):c.158-11C>G single nucleotide variant Isolated microphthalmia 5 [RCV003879837] Chr11:119346170 [GRCh38]
Chr11:119216880 [GRCh37]
Chr11:11q23.3		 likely benign
NM_031433.4(MFRP):c.1212T>C (p.Ser404=) single nucleotide variant Isolated microphthalmia 5 [RCV003503579] Chr11:119342916 [GRCh38]
Chr11:119213626 [GRCh37]
Chr11:11q23.3		 likely benign
NM_031433.4(MFRP):c.1256-17G>T single nucleotide variant Isolated microphthalmia 5 [RCV003503582] Chr11:119342744 [GRCh38]
Chr11:119213454 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001278431.2(C1QTNF5):c.8C>T (p.Pro3Leu) single nucleotide variant not provided [RCV003825524] Chr11:119340390 [GRCh38]
Chr11:119211100 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.993C>T (p.Ile331=) single nucleotide variant Isolated microphthalmia 5 [RCV003503594] Chr11:119343947 [GRCh38]
Chr11:119214657 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001278431.2(C1QTNF5):c.566C>T (p.Ala189Val) single nucleotide variant not provided [RCV003832113] Chr11:119339497 [GRCh38]
Chr11:119210207 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001278431.2(C1QTNF5):c.381C>T (p.Arg127=) single nucleotide variant not provided [RCV005170098] Chr11:119339682 [GRCh38]
Chr11:119210392 [GRCh37]
Chr11:11q23.3		 likely benign
NM_031433.4(MFRP):c.1140G>A (p.Glu380=) single nucleotide variant Isolated microphthalmia 5 [RCV003810799] Chr11:119342988 [GRCh38]
Chr11:119213698 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001278431.2(C1QTNF5):c.354G>C (p.Pro118=) single nucleotide variant not provided [RCV003666400] Chr11:119339709 [GRCh38]
Chr11:119210419 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001278431.2(C1QTNF5):c.630T>C (p.Gly210=) single nucleotide variant not provided [RCV003726340] Chr11:119339433 [GRCh38]
Chr11:119210143 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001278431.2(C1QTNF5):c.258G>A (p.Ala86=) single nucleotide variant not provided [RCV003669543] Chr11:119339805 [GRCh38]
Chr11:119210515 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001278431.2(C1QTNF5):c.213G>A (p.Pro71=) single nucleotide variant not provided [RCV003701540] Chr11:119340185 [GRCh38]
Chr11:119210895 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001278431.2(C1QTNF5):c.648C>T (p.Gly216=) single nucleotide variant C1QTNF5-related disorder [RCV003901279]|not provided [RCV003700171] Chr11:119339415 [GRCh38]
Chr11:119210125 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001278431.2(C1QTNF5):c.321C>G (p.Ser107Arg) single nucleotide variant not provided [RCV003864861] Chr11:119339742 [GRCh38]
Chr11:119210452 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001278431.2(C1QTNF5):c.5G>A (p.Arg2Lys) single nucleotide variant not provided [RCV003679511] Chr11:119340393 [GRCh38]
Chr11:119211103 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001278431.2(C1QTNF5):c.449T>C (p.Val150Ala) single nucleotide variant not provided [RCV003844030] Chr11:119339614 [GRCh38]
Chr11:119210324 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.843T>G (p.Gly281=) single nucleotide variant Isolated microphthalmia 5 [RCV003858859] Chr11:119344687 [GRCh38]
Chr11:119215397 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001278431.2(C1QTNF5):c.305C>T (p.Pro102Leu) single nucleotide variant not provided [RCV003718931] Chr11:119339758 [GRCh38]
Chr11:119210468 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001278431.2(C1QTNF5):c.239C>G (p.Pro80Arg) single nucleotide variant not provided [RCV003719975] Chr11:119339824 [GRCh38]
Chr11:119210534 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.898+7G>T single nucleotide variant Isolated microphthalmia 5 [RCV003865524] Chr11:119344625 [GRCh38]
Chr11:119215335 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001278431.2(C1QTNF5):c.141G>A (p.Pro47=) single nucleotide variant not provided [RCV003857394] Chr11:119340257 [GRCh38]
Chr11:119210967 [GRCh37]
Chr11:11q23.3		 likely benign
NM_031433.4(MFRP):c.1387+14C>A single nucleotide variant Isolated microphthalmia 5 [RCV003864710] Chr11:119342582 [GRCh38]
Chr11:119213292 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001278431.2(C1QTNF5):c.214G>A (p.Gly72Arg) single nucleotide variant not provided [RCV003857452] Chr11:119340184 [GRCh38]
Chr11:119210894 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001278431.2(C1QTNF5):c.411C>T (p.Asp137=) single nucleotide variant not provided [RCV003845453] Chr11:119339652 [GRCh38]
Chr11:119210362 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001278431.2(C1QTNF5):c.613G>C (p.Val205Leu) single nucleotide variant Late-onset retinal degeneration [RCV003989085] Chr11:119339450 [GRCh38]
Chr11:119210160 [GRCh37]
Chr11:11q23.3		 likely benign
GRCh37/hg19 11q23.3-25(chr11:116683755-134937416)x3 copy number gain not provided [RCV004442759] Chr11:116683755..134937416 [GRCh37]
Chr11:11q23.3-25		 pathogenic
NM_031433.4(MFRP):c.1164G>T (p.Ser388=) single nucleotide variant MFRP-related disorder [RCV004531851] Chr11:119342964 [GRCh38]
Chr11:119213674 [GRCh37]
Chr11:11q23.3		 likely benign
NM_031433.4(MFRP):c.981C>G (p.Cys327Trp) single nucleotide variant Inborn genetic diseases [RCV004417053] Chr11:119343959 [GRCh38]
Chr11:119214669 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.919G>A (p.Gly307Ser) single nucleotide variant Inborn genetic diseases [RCV004417052]|Retinal dystrophy [RCV004818450] Chr11:119344371 [GRCh38]
Chr11:119215081 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001278431.2(C1QTNF5):c.549G>A (p.Gly183=) single nucleotide variant not provided [RCV004546380] Chr11:119339514 [GRCh38]
Chr11:119210224 [GRCh37]
Chr11:11q23.3		 likely benign
NM_031433.4(MFRP):c.75C>T (p.Ala25=) single nucleotide variant MFRP-related disorder [RCV004540831] Chr11:119346354 [GRCh38]
Chr11:119217064 [GRCh37]
Chr11:11q23.3		 likely benign
NM_031433.4(MFRP):c.1458C>T (p.Asn486=) single nucleotide variant MFRP-related disorder [RCV004531849] Chr11:119341914 [GRCh38]
Chr11:119212624 [GRCh37]
Chr11:11q23.3		 likely benign
NM_031433.4(MFRP):c.121G>A (p.Glu41Lys) single nucleotide variant Inborn genetic diseases [RCV004417049] Chr11:119346308 [GRCh38]
Chr11:119217018 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001278431.2(C1QTNF5):c.205G>A (p.Gly69Arg) single nucleotide variant Inborn genetic diseases [RCV004429592] Chr11:119340193 [GRCh38]
Chr11:119210903 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001278431.2(C1QTNF5):c.190G>A (p.Glu64Lys) single nucleotide variant Inborn genetic diseases [RCV004429591]|not provided [RCV005104579] Chr11:119340208 [GRCh38]
Chr11:119210918 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.95C>A (p.Pro32Gln) single nucleotide variant Inborn genetic diseases [RCV004645490] Chr11:119346334 [GRCh38]
Chr11:119217044 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.1035C>A (p.Asn345Lys) single nucleotide variant Inborn genetic diseases [RCV004645491] Chr11:119343905 [GRCh38]
Chr11:119214615 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.833T>C (p.Val278Ala) single nucleotide variant Inborn genetic diseases [RCV004645489] Chr11:119344697 [GRCh38]
Chr11:119215407 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.1497G>T (p.Glu499Asp) single nucleotide variant Inborn genetic diseases [RCV004628826] Chr11:119341875 [GRCh38]
Chr11:119212585 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.602G>T (p.Arg201Leu) single nucleotide variant Isolated microphthalmia 5 [RCV004577058] Chr11:119345459 [GRCh38]
Chr11:119216169 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.1168C>G (p.His390Asp) single nucleotide variant Inborn genetic diseases [RCV004645492] Chr11:119342960 [GRCh38]
Chr11:119213670 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.1411G>A (p.Val471Met) single nucleotide variant Isolated microphthalmia 5 [RCV004577057] Chr11:119341961 [GRCh38]
Chr11:119212671 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.1486G>A (p.Glu496Lys) single nucleotide variant Isolated microphthalmia 5 [RCV004577056] Chr11:119341886 [GRCh38]
Chr11:119212596 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001278431.2(C1QTNF5):c.434G>A (p.Cys145Tyr) single nucleotide variant Late-onset retinal degeneration [RCV004691666] Chr11:119339629 [GRCh38]
Chr11:119210339 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.112G>T (p.Val38Phe) single nucleotide variant Inborn genetic diseases [RCV004952070] Chr11:119346317 [GRCh38]
Chr11:119217027 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.1148C>A (p.Pro383His) single nucleotide variant Inborn genetic diseases [RCV004952071] Chr11:119342980 [GRCh38]
Chr11:119213690 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.109C>A (p.Pro37Thr) single nucleotide variant Inborn genetic diseases [RCV004956437] Chr11:119346320 [GRCh38]
Chr11:119217030 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.386A>G (p.Lys129Arg) single nucleotide variant Inborn genetic diseases [RCV004956438] Chr11:119345814 [GRCh38]
Chr11:119216524 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001278431.2(C1QTNF5):c.148G>T (p.Asp50Tyr) single nucleotide variant Inborn genetic diseases [RCV004970362] Chr11:119340250 [GRCh38]
Chr11:119210960 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.1387+11T>C single nucleotide variant Isolated microphthalmia 5 [RCV005137682] Chr11:119342585 [GRCh38]
Chr11:119213295 [GRCh37]
Chr11:11q23.3		 likely benign
NM_031433.4(MFRP):c.898+10A>G single nucleotide variant Isolated microphthalmia 5 [RCV005118851] Chr11:119344622 [GRCh38]
Chr11:119215332 [GRCh37]
Chr11:11q23.3		 likely benign
NM_031433.4(MFRP):c.522C>T (p.Ile174=) single nucleotide variant Isolated microphthalmia 5 [RCV005126023] Chr11:119345539 [GRCh38]
Chr11:119216249 [GRCh37]
Chr11:11q23.3		 likely benign
NM_031433.4(MFRP):c.1388-18T>C single nucleotide variant Isolated microphthalmia 5 [RCV005133059] Chr11:119342002 [GRCh38]
Chr11:119212712 [GRCh37]
Chr11:11q23.3		 likely benign
NM_031433.4(MFRP):c.726A>G (p.Glu242=) single nucleotide variant Isolated microphthalmia 5 [RCV005144915] Chr11:119344920 [GRCh38]
Chr11:119215630 [GRCh37]
Chr11:11q23.3		 likely benign
NM_031433.4(MFRP):c.1255+1G>C single nucleotide variant Isolated microphthalmia 5 [RCV005186215] Chr11:119342872 [GRCh38]
Chr11:119213582 [GRCh37]
Chr11:11q23.3		 likely pathogenic
NM_001278431.2(C1QTNF5):c.492G>A (p.Leu164=) single nucleotide variant not provided [RCV005146649] Chr11:119339571 [GRCh38]
Chr11:119210281 [GRCh37]
Chr11:11q23.3		 likely benign
NM_031433.4(MFRP):c.754dup (p.Ala252fs) duplication Isolated microphthalmia 5 [RCV005175200] Chr11:119344891..119344892 [GRCh38]
Chr11:119215601..119215602 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_031433.4(MFRP):c.634dup (p.Leu212fs) duplication Isolated microphthalmia 5 [RCV005199749] Chr11:119345426..119345427 [GRCh38]
Chr11:119216136..119216137 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001278431.2(C1QTNF5):c.423C>T (p.Gly141=) single nucleotide variant not provided [RCV005064104] Chr11:119339640 [GRCh38]
Chr11:119210350 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.345C>A (p.Thr115=) single nucleotide variant Isolated microphthalmia 5 [RCV005204204] Chr11:119345855 [GRCh38]
Chr11:119216565 [GRCh37]
Chr11:11q23.3		 likely benign
NM_031433.4(MFRP):c.102C>T (p.Cys34=) single nucleotide variant Isolated microphthalmia 5 [RCV005144986] Chr11:119346327 [GRCh38]
Chr11:119217037 [GRCh37]
Chr11:11q23.3		 likely benign
NM_031433.4(MFRP):c.667A>G (p.Thr223Ala) single nucleotide variant Isolated microphthalmia 5 [RCV005086501] Chr11:119344979 [GRCh38]
Chr11:119215689 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.773-20C>T single nucleotide variant Isolated microphthalmia 5 [RCV005182705] Chr11:119344777 [GRCh38]
Chr11:119215487 [GRCh37]
Chr11:11q23.3		 likely benign
NM_031433.4(MFRP):c.792G>A (p.Glu264=) single nucleotide variant Isolated microphthalmia 5 [RCV005161013] Chr11:119344738 [GRCh38]
Chr11:119215448 [GRCh37]
Chr11:11q23.3		 likely benign
NM_031433.4(MFRP):c.642-19C>A single nucleotide variant Isolated microphthalmia 5 [RCV005085503] Chr11:119345023 [GRCh38]
Chr11:119215733 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001278431.2(C1QTNF5):c.346C>T (p.Pro116Ser) single nucleotide variant not provided [RCV005062534] Chr11:119339717 [GRCh38]
Chr11:119210427 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.1296del (p.Cys433fs) deletion Isolated microphthalmia 5 [RCV005194522] Chr11:119342687 [GRCh38]
Chr11:119213397 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_031433.4(MFRP):c.183A>G (p.Pro61=) single nucleotide variant Isolated microphthalmia 5 [RCV005129823] Chr11:119346134 [GRCh38]
Chr11:119216844 [GRCh37]
Chr11:11q23.3		 likely benign
NM_031433.4(MFRP):c.1164G>A (p.Ser388=) single nucleotide variant Isolated microphthalmia 5 [RCV005176933] Chr11:119342964 [GRCh38]
Chr11:119213674 [GRCh37]
Chr11:11q23.3		 likely benign
NM_031433.4(MFRP):c.976-4C>T single nucleotide variant Isolated microphthalmia 5 [RCV005199626] Chr11:119343968 [GRCh38]
Chr11:119214678 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001278431.2(C1QTNF5):c.382G>A (p.Val128Met) single nucleotide variant not provided [RCV005155911] Chr11:119339681 [GRCh38]
Chr11:119210391 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001278431.2(C1QTNF5):c.436C>A (p.Gln146Lys) single nucleotide variant not provided [RCV005127738] Chr11:119339627 [GRCh38]
Chr11:119210337 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001278431.2(C1QTNF5):c.222G>T (p.Pro74=) single nucleotide variant not provided [RCV005108572] Chr11:119339841 [GRCh38]
Chr11:119210551 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001278431.2(C1QTNF5):c.334G>A (p.Glu112Lys) single nucleotide variant not provided [RCV005154501] Chr11:119339729 [GRCh38]
Chr11:119210439 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001278431.2(C1QTNF5):c.575del (p.Ser192fs) deletion not provided [RCV005116464] Chr11:119339488 [GRCh38]
Chr11:119210198 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001278431.2(C1QTNF5):c.375C>T (p.Phe125=) single nucleotide variant not provided [RCV005072448] Chr11:119339688 [GRCh38]
Chr11:119210398 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001278431.2(C1QTNF5):c.135C>G (p.Gly45=) single nucleotide variant not provided [RCV005143463] Chr11:119340263 [GRCh38]
Chr11:119210973 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001278431.2(C1QTNF5):c.215-13G>C single nucleotide variant not provided [RCV005168879] Chr11:119339861 [GRCh38]
Chr11:119210571 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001278431.2(C1QTNF5):c.663C>T (p.Ile221=) single nucleotide variant not provided [RCV005169275] Chr11:119339400 [GRCh38]
Chr11:119210110 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001278431.2(C1QTNF5):c.206G>A (p.Gly69Glu) single nucleotide variant not provided [RCV005080610] Chr11:119340192 [GRCh38]
Chr11:119210902 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001278431.2(C1QTNF5):c.291G>A (p.Glu97=) single nucleotide variant not provided [RCV005142804] Chr11:119339772 [GRCh38]
Chr11:119210482 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001278431.2(C1QTNF5):c.237C>A (p.Asp79Glu) single nucleotide variant not provided [RCV005206867] Chr11:119339826 [GRCh38]
Chr11:119210536 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001278431.2(C1QTNF5):c.180G>C (p.Gly60=) single nucleotide variant not provided [RCV005127332] Chr11:119340218 [GRCh38]
Chr11:119210928 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001278431.2(C1QTNF5):c.426G>A (p.Lys142=) single nucleotide variant not provided [RCV005149573] Chr11:119339637 [GRCh38]
Chr11:119210347 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001278431.2(C1QTNF5):c.422G>C (p.Gly141Ala) single nucleotide variant not provided [RCV005126659] Chr11:119339641 [GRCh38]
Chr11:119210351 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001278431.2(C1QTNF5):c.228T>A (p.Pro76=) single nucleotide variant not provided [RCV005169205] Chr11:119339835 [GRCh38]
Chr11:119210545 [GRCh37]
Chr11:11q23.3		 likely benign
NM_031433.4(MFRP):c.696G>C (p.Leu232=) single nucleotide variant Isolated microphthalmia 5 [RCV003611845] Chr11:119344950 [GRCh38]
Chr11:119215660 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001278431.2(C1QTNF5):c.215-7C>A single nucleotide variant not provided [RCV003689786] Chr11:119339855 [GRCh38]
Chr11:119210565 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001278431.2(C1QTNF5):c.248G>A (p.Arg83Gln) single nucleotide variant not provided [RCV003662965] Chr11:119339815 [GRCh38]
Chr11:119210525 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001278431.2(C1QTNF5):c.714C>T (p.Ser238=) single nucleotide variant not provided [RCV003834697] Chr11:119339349 [GRCh38]
Chr11:119210059 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001278431.2(C1QTNF5):c.213G>C (p.Pro71=) single nucleotide variant not provided [RCV003704562] Chr11:119340185 [GRCh38]
Chr11:119210895 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001278431.2(C1QTNF5):c.132G>A (p.Gln44=) single nucleotide variant not provided [RCV003541894] Chr11:119340266 [GRCh38]
Chr11:119210976 [GRCh37]
Chr11:11q23.3		 likely benign
NM_031433.4(MFRP):c.1114C>T (p.Leu372Phe) single nucleotide variant Inborn genetic diseases [RCV004417047] Chr11:119343826 [GRCh38]
Chr11:119214536 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.349C>G (p.Pro117Ala) single nucleotide variant Inborn genetic diseases [RCV004417050] Chr11:119345851 [GRCh38]
Chr11:119216561 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.1067T>G (p.Phe356Cys) single nucleotide variant Inborn genetic diseases [RCV004417046] Chr11:119343873 [GRCh38]
Chr11:119214583 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.1256-16C>A single nucleotide variant Isolated microphthalmia 5 [RCV005193982] Chr11:119342743 [GRCh38]
Chr11:119213453 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001278431.2(C1QTNF5):c.271C>T (p.Pro91Ser) single nucleotide variant not provided [RCV005067371] Chr11:119339792 [GRCh38]
Chr11:119210502 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_031433.4(MFRP):c.898+20G>A single nucleotide variant Isolated microphthalmia 5 [RCV005183587] Chr11:119344612 [GRCh38]
Chr11:119215322 [GRCh37]
Chr11:11q23.3		 likely benign
NM_031433.4(MFRP):c.1124+10C>T single nucleotide variant Isolated microphthalmia 5 [RCV005181770] Chr11:119343806 [GRCh38]
Chr11:119214516 [GRCh37]
Chr11:11q23.3		 likely benign
NM_031433.4(MFRP):c.274C>T (p.Leu92=) single nucleotide variant Isolated microphthalmia 5 [RCV005187521] Chr11:119345926 [GRCh38]
Chr11:119216636 [GRCh37]
Chr11:11q23.3		 likely benign
miRNA Target Status (No longer updated)

Predicted Target Of
Summary Value
Count of predictions:2832
Count of miRNA genes:962
Interacting mature miRNAs:1177
Transcripts:ENST00000360167, ENST00000449574, ENST00000526059, ENST00000529147, ENST00000555262
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
597426128GWAS1522202_Hgout QTL GWAS1522202 (human)1e-09gout11119346601119346602Human
1559115SCL20_HSerum cholesterol level QTL 20 (human)3.220.001213Lipid levelLDL cholesterol11100442501126442501Human
597211924GWAS1307998_Hintraocular pressure measurement QTL GWAS1307998 (human)2e-08intraocular pressure measurement11119346601119346602Human

Markers in Region
D11S869E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711119,209,672 - 119,209,949UniSTSGRCh37
Build 3611118,714,882 - 118,715,159RGDNCBI36
Celera11116,370,343 - 116,370,620RGD
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map11q23UniSTS
HuRef11115,150,371 - 115,150,648UniSTS
GeneMap99-GB4 RH Map11388.08UniSTS
MFRP__6310  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711119,211,619 - 119,212,410UniSTSGRCh37
Build 3611118,716,829 - 118,717,620RGDNCBI36
Celera11116,372,290 - 116,373,081RGD
HuRef11115,152,318 - 115,153,109UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
nervous system
renal system
reproductive system
respiratory system
sensory system
visual system
1068 1359 1736 1598 3024 1016 1195 142 426 61 1380 3237 3796 2433 284 976 1004 82 1

Sequence


Ensembl Acc Id: ENST00000360167   ⟹   ENSP00000353291
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11119,341,423 - 119,346,665 (-)Ensembl
Ensembl Acc Id: ENST00000449574   ⟹   ENSP00000391664
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11119,341,594 - 119,342,980 (-)Ensembl
Ensembl Acc Id: ENST00000526059
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11119,345,777 - 119,346,617 (-)Ensembl
Ensembl Acc Id: ENST00000529147
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11119,344,632 - 119,346,391 (-)Ensembl
Ensembl Acc Id: ENST00000619721   ⟹   ENSP00000481824
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11119,338,942 - 119,346,705 (-)Ensembl
Ensembl Acc Id: ENST00000634542   ⟹   ENSP00000488979
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11119,344,924 - 119,346,617 (-)Ensembl
RefSeq Acc Id: NM_031433   ⟹   NP_113621
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811119,338,942 - 119,346,705 (-)NCBI
GRCh3711119,209,644 - 119,217,383 (-)NCBI
Build 3611118,716,836 - 118,722,580 (-)NCBI Archive
HuRef11115,150,343 - 115,158,082 (-)NCBI
CHM1_111119,096,203 - 119,103,942 (-)NCBI
T2T-CHM13v2.011119,359,579 - 119,367,342 (-)NCBI
Sequence:
RefSeq Acc Id: NP_113621   ⟸   NM_031433
- UniProtKB: Q335M3 (UniProtKB/Swiss-Prot),   B4DHN8 (UniProtKB/Swiss-Prot),   B0YJ37 (UniProtKB/Swiss-Prot),   B0YJ36 (UniProtKB/Swiss-Prot),   Q96DQ9 (UniProtKB/Swiss-Prot),   Q9BY79 (UniProtKB/Swiss-Prot)
- Sequence:
Ensembl Acc Id: ENSP00000488979   ⟸   ENST00000634542
Ensembl Acc Id: ENSP00000353291   ⟸   ENST00000360167
Ensembl Acc Id: ENSP00000481824   ⟸   ENST00000619721
Ensembl Acc Id: ENSP00000391664   ⟸   ENST00000449574
Protein Domains
CUB   FZ   LDL-receptor class A

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9BY79-F1-model_v2 AlphaFold Q9BY79 1-579 view protein structure


Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:18121 AgrOrtholog
COSMIC MFRP COSMIC
Ensembl Genes ENSG00000235718 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000360167.4 UniProtKB/Swiss-Prot
  ENST00000449574.7 UniProtKB/TrEMBL
  ENST00000619721 ENTREZGENE
  ENST00000619721.6 UniProtKB/Swiss-Prot
  ENST00000634542.1 UniProtKB/TrEMBL
Gene3D-CATH 1.10.2000.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  2.60.120.290 UniProtKB/Swiss-Prot
  4.10.400.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000235718 GTEx
HGNC ID HGNC:18121 ENTREZGENE
Human Proteome Map MFRP Human Proteome Map
InterPro CUB_dom UniProtKB/Swiss-Prot
  Frizzled/SFRP UniProtKB/TrEMBL
  Frizzled_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Frizzled_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LDL_receptor-like_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LDLR_class-A_CS UniProtKB/Swiss-Prot
  LDrepeatLR_classA_rpt UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Sperma_CUB_dom_sf UniProtKB/Swiss-Prot
KEGG Report hsa:83552 UniProtKB/Swiss-Prot
NCBI Gene 83552 ENTREZGENE
OMIM 606227 OMIM
PANTHER FRIZZLED UniProtKB/TrEMBL
  FRIZZLED UniProtKB/TrEMBL
  MEMBRANE FRIZZLED-RELATED PROTEIN UniProtKB/Swiss-Prot
  OVOCHYMASE-RELATED UniProtKB/Swiss-Prot
Pfam CUB UniProtKB/Swiss-Prot
  Ldl_recept_a UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PF01392 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA30776 PharmGKB
PRINTS LDLRECEPTOR UniProtKB/Swiss-Prot
PROSITE CUB UniProtKB/Swiss-Prot
  LDLRA_1 UniProtKB/Swiss-Prot
  LDLRA_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PS50038 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART CUB UniProtKB/Swiss-Prot
  FRI UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LDLa UniProtKB/Swiss-Prot
Superfamily-SCOP SSF49854 UniProtKB/Swiss-Prot
  SSF57424 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF63501 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A0U1RQG2_HUMAN UniProtKB/TrEMBL
  A0A0X1KG76_HUMAN UniProtKB/TrEMBL
  B0YJ36 ENTREZGENE
  B0YJ37 ENTREZGENE
  B4DHN8 ENTREZGENE
  MFRP_HUMAN UniProtKB/Swiss-Prot
  Q335M3 ENTREZGENE
  Q96DQ9 ENTREZGENE
  Q9BY79 ENTREZGENE
UniProt Secondary B0YJ36 UniProtKB/Swiss-Prot
  B0YJ37 UniProtKB/Swiss-Prot
  B4DHN8 UniProtKB/Swiss-Prot
  Q335M3 UniProtKB/Swiss-Prot
  Q96DQ9 UniProtKB/Swiss-Prot