C1QTNF5 (C1q and TNF related 5) - Rat Genome Database

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Gene: C1QTNF5 (C1q and TNF related 5) Homo sapiens
Analyze
Symbol: C1QTNF5
Name: C1q and TNF related 5
RGD ID: 1318784
HGNC Page HGNC:14344
Description: Enables identical protein binding activity. Predicted to act upstream of or within inner ear development and protein secretion. Predicted to be located in several cellular components, including apical plasma membrane; bicellular tight junction; and lateral plasma membrane. Predicted to be part of collagen trimer. Predicted to be active in cell projection; extracellular space; and plasma membrane. Implicated in late-onset retinal degeneration.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: C1q and tumor necrosis factor related protein 5; C1q TNF-alpha-related protein 5; complement C1q tumor necrosis factor-related protein 5; CTRP5; DKFZp586B0621; FLJ30570; LORD; MFRP; myonectin
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 - 119,340,940 (-)EnsemblGRCh38hg38GRCh38
GRCh3711119,209,652 - 119,217,415 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3611118,714,862 - 118,716,791 (-)NCBINCBI36Build 36hg18NCBI36
Build 3411118,714,861 - 118,716,791NCBI
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 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. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
3. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
5. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:7835092   PMID:9512423   PMID:11263980   PMID:12477932   PMID:12944416   PMID:12975309   PMID:14702039   PMID:15340161   PMID:15489334   PMID:16123441   PMID:16376663   PMID:16600989  
PMID:17122142   PMID:17122143   PMID:17249553   PMID:17766366   PMID:18783346   PMID:18842294   PMID:19651784   PMID:20554618   PMID:20621834   PMID:21873635   PMID:22031510   PMID:22110650  
PMID:22183337   PMID:22261190   PMID:22277927   PMID:22632162   PMID:22892318   PMID:23289492   PMID:23376485   PMID:23430573   PMID:24531000   PMID:25010528   PMID:27143553   PMID:27149696  
PMID:28239164   PMID:28939808   PMID:29070503   PMID:29161407   PMID:29721928   PMID:30300788   PMID:30451557   PMID:30894898   PMID:31385385   PMID:31965030   PMID:32202952   PMID:32296183  
PMID:32588645   PMID:32852729   PMID:33669876   PMID:33785845   PMID:33949280   PMID:33990119   PMID:34887495   PMID:34907845   PMID:36457269   PMID:38085246   PMID:38246238  


Genomics

Comparative Map Data
C1QTNF5
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3811119,338,942 - 119,346,705 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl11119,338,942 - 119,340,940 (-)EnsemblGRCh38hg38GRCh38
GRCh3711119,209,652 - 119,217,415 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3611118,714,862 - 118,716,791 (-)NCBINCBI36Build 36hg18NCBI36
Build 3411118,714,861 - 118,716,791NCBI
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
C1qtnf5
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39944,013,067 - 44,020,484 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl944,018,542 - 44,020,484 (+)EnsemblGRCm39 Ensembl
GRCm38944,101,770 - 44,109,187 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl944,107,245 - 44,109,187 (+)EnsemblGRCm38mm10GRCm38
MGSCv37943,909,853 - 43,917,270 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36943,852,837 - 43,860,182 (+)NCBIMGSCv36mm8
Celera941,359,597 - 41,367,008 (+)NCBICelera
Cytogenetic Map9A5.1NCBI
cM Map924.62NCBI
C1qtnf5
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8853,347,754 - 53,349,912 (+)NCBIGRCr8
mRatBN7.2844,450,934 - 44,453,075 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl844,451,154 - 44,453,074 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx849,949,444 - 49,951,317 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0848,228,154 - 48,230,027 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0846,095,772 - 46,097,646 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0848,443,515 - 48,445,639 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl848,443,767 - 48,445,637 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0847,059,344 - 47,061,466 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4847,089,564 - 47,091,434 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1847,098,329 - 47,100,200 (+)NCBI
Celera844,038,402 - 44,040,272 (+)NCBICelera
Cytogenetic Map8q22NCBI
C1qtnf5
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541220,415,287 - 20,421,541 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495541220,419,754 - 20,421,541 (-)NCBIChiLan1.0ChiLan1.0
C1QTNF5
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v29120,046,694 - 120,048,149 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan111121,150,207 - 121,152,149 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v011114,179,998 - 114,187,761 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.111118,107,317 - 118,108,798 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl11118,107,706 - 118,108,774 (-)Ensemblpanpan1.1panPan2
C1QTNF5
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1514,561,115 - 14,563,277 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl514,562,350 - 14,563,309 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha514,615,374 - 14,616,760 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0514,505,249 - 14,506,628 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl514,505,283 - 14,506,258 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1514,643,533 - 14,644,919 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0514,547,529 - 14,548,908 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0514,587,647 - 14,589,033 (+)NCBIUU_Cfam_GSD_1.0
C1qtnf5
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404947101,348,224 - 101,350,160 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365424,269,636 - 4,271,610 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365424,269,636 - 4,271,497 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
C1QTNF5
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl946,548,131 - 46,550,172 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1946,548,175 - 46,550,146 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2951,582,420 - 51,584,391 (-)NCBISscrofa10.2Sscrofa10.2susScr3
C1QTNF5
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11110,717,909 - 110,720,454 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1110,718,294 - 110,719,361 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604315,315,040 - 15,317,089 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
C1qtnf5
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462478414,707,453 - 14,708,954 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462478414,707,453 - 14,709,609 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in C1QTNF5
810 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
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_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
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.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.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.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
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.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_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.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.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_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.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.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.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.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.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.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
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
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
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 11q23.3-25(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
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_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_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.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.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.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_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.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_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_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.*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_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_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.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_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.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.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_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_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.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_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_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
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 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.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.*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_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_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_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.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
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_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
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_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
GRCh37/hg19 11q23.3-25(chr11:116681007-134938470)x3 copy number gain See cases [RCV000512291] Chr11:116681007..134938470 [GRCh37]
Chr11:11q23.3-25		 pathogenic
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.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 11q23.3-25(chr11:116681007-134938470)x3 copy number gain not provided [RCV000683373] Chr11:116681007..134938470 [GRCh37]
Chr11:11q23.3-25		 pathogenic
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.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.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_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.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.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.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.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.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.336G>A (p.Thr112=) single nucleotide variant Isolated microphthalmia 5 [RCV000928917] Chr11:119345864 [GRCh38]
Chr11:119216574 [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
GRCh37/hg19 11q23.3-25(chr11:116691675-134889485) copy number gain not provided [RCV000767667] Chr11:116691675..134889485 [GRCh37]
Chr11:11q23.3-25		 pathogenic
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
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.1250del (p.Thr417fs) deletion Isolated microphthalmia 5 [RCV001169878] Chr11:119342878 [GRCh38]
Chr11:119213588 [GRCh37]
Chr11:11q23.3		 pathogenic
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.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.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_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.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.*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.500del (p.Asn167fs) deletion Isolated microphthalmia 5 [RCV003112237] Chr11:119345561 [GRCh38]
Chr11:119216271 [GRCh37]
Chr11:11q23.3		 pathogenic
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_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_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.1640A>G (p.His547Arg) single nucleotide variant Inborn genetic diseases [RCV003258389] Chr11:119341648 [GRCh38]
Chr11:119212358 [GRCh37]
Chr11:11q23.3		 likely benign
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.665C>G (p.Pro222Arg) single nucleotide variant Isolated microphthalmia 5 [RCV001724764] Chr11:119344981 [GRCh38]
Chr11:119215691 [GRCh37]
Chr11:11q23.3		 uncertain significance
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.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.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.596T>C (p.Phe199Ser) single nucleotide variant Isolated microphthalmia 5 [RCV001232107] Chr11:119345465 [GRCh38]
Chr11:119216175 [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.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.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.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_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.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.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.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
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.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
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.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.641+139C>T single nucleotide variant not provided [RCV001599159] Chr11:119345281 [GRCh38]
Chr11:119215991 [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.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_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_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_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.*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.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.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.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.*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.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.976-97T>C single nucleotide variant not provided [RCV001611891] Chr11:119344061 [GRCh38]
Chr11:119214771 [GRCh37]
Chr11:11q23.3		 benign
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.898+86G>A single nucleotide variant not provided [RCV001665843] Chr11:119344546 [GRCh38]
Chr11:119215256 [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.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.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.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.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.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.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.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.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.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.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_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.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.1057G>A (p.Glu353Lys) single nucleotide variant Isolated microphthalmia 5 [RCV001245770] Chr11:119343883 [GRCh38]
Chr11:119214593 [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
GRCh37/hg19 11q23.3(chr11:118280670-119650105)x3 copy number gain not provided [RCV001006451] Chr11:118280670..119650105 [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.*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.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.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_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.1267C>G (p.Pro423Ala) single nucleotide variant Isolated microphthalmia 5 [RCV001229391] Chr11:119342716 [GRCh38]
Chr11:119213426 [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.899-10C>A single nucleotide variant Isolated microphthalmia 5 [RCV001304294] Chr11:119344401 [GRCh38]
Chr11:119215111 [GRCh37]
Chr11:11q23.3		 likely benign|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.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.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.899-3C>A single nucleotide variant Nanophthalmos 2 [RCV001255870] Chr11:119344394 [GRCh38]
Chr11:119215104 [GRCh37]
Chr11:11q23.3		 pathogenic
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.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.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_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_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.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.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.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.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_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.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.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.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.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.578G>A (p.Ser193Asn) single nucleotide variant Isolated microphthalmia 5 [RCV001309396] Chr11:119345483 [GRCh38]
Chr11:119216193 [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.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.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.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_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_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.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.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.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.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.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_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_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.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.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.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.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.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.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.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.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.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_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_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.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.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.266T>C (p.Leu89Pro) single nucleotide variant Isolated microphthalmia 5 [RCV001365828] Chr11:119346051 [GRCh38]
Chr11:119216761 [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.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.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.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.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.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
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
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_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_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.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_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.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.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.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.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_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.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_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
NC_000011.9:g.(?_119217150)_(119217243_?)del deletion Isolated microphthalmia 5 [RCV001390063] Chr11:119217150..119217243 [GRCh37]
Chr11:11q23.3		 pathogenic
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
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
NC_000011.9:g.104288964_134937416dup duplication Distal trisomy 11q [RCV001250234] Chr11:104288964..134937416 [GRCh37]
Chr11:11q22.3-25		 pathogenic
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_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_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.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.55-1G>A single nucleotide variant Isolated microphthalmia 5 [RCV001807532] Chr11:119346375 [GRCh38]
Chr11:119217085 [GRCh37]
Chr11:11q23.3		 likely pathogenic
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.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.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.548G>A (p.Gly183Glu) single nucleotide variant not provided [RCV002025029] Chr11:119339515 [GRCh38]
Chr11:119210225 [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.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.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.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.157+1G>C single nucleotide variant Isolated microphthalmia 5 [RCV002031599] Chr11:119346271 [GRCh38]
Chr11:119216981 [GRCh37]
Chr11:11q23.3		 likely pathogenic
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_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.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.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.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.257C>A (p.Ala86Asp) single nucleotide variant Isolated microphthalmia 5 [RCV002010020] Chr11:119346060 [GRCh38]
Chr11:119216770 [GRCh37]
Chr11:11q23.3		 uncertain significance
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_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.976-3C>G single nucleotide variant Isolated microphthalmia 5 [RCV002006427] Chr11:119343967 [GRCh38]
Chr11:119214677 [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_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_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.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.773-1G>C single nucleotide variant Isolated microphthalmia 5 [RCV002022410] Chr11:119344758 [GRCh38]
Chr11:119215468 [GRCh37]
Chr11:11q23.3		 likely pathogenic
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_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.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.1018G>A (p.Glu340Lys) single nucleotide variant Isolated microphthalmia 5 [RCV002000325] Chr11:119343922 [GRCh38]
Chr11:119214632 [GRCh37]
Chr11:11q23.3		 uncertain significance
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_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_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.545T>A (p.Ile182Lys) single nucleotide variant Isolated microphthalmia 5 [RCV001923618] Chr11:119345516 [GRCh38]
Chr11:119216226 [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.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_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_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_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.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.1150C>A (p.His384Asn) single nucleotide variant Isolated microphthalmia 5 [RCV001895170] Chr11:119342978 [GRCh38]
Chr11:119213688 [GRCh37]
Chr11:11q23.3		 uncertain significance
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.275C>T (p.Thr92Ile) single nucleotide variant not provided [RCV001957622] Chr11:119339788 [GRCh38]
Chr11:119210498 [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.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_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.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.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.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.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.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.670C>T (p.Leu224Phe) single nucleotide variant Isolated microphthalmia 5 [RCV001970879] Chr11:119344976 [GRCh38]
Chr11:119215686 [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_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_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.602G>A (p.Arg201His) single nucleotide variant Isolated microphthalmia 5 [RCV001975997] Chr11:119345459 [GRCh38]
Chr11:119216169 [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_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.1631A>C (p.Glu544Ala) single nucleotide variant Isolated microphthalmia 5 [RCV001965255] Chr11:119341657 [GRCh38]
Chr11:119212367 [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_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_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.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.38C>A (p.Ala13Glu) single nucleotide variant not provided [RCV002034084] Chr11:119340360 [GRCh38]
Chr11:119211070 [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
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.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.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.701T>C (p.Val234Ala) single nucleotide variant Isolated microphthalmia 5 [RCV001938742] Chr11:119344945 [GRCh38]
Chr11:119215655 [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.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.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.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.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.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_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.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.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.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.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.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.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.898+11G>A single nucleotide variant Isolated microphthalmia 5 [RCV002102051] Chr11:119344621 [GRCh38]
Chr11:119215331 [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_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.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.158-17C>T single nucleotide variant Isolated microphthalmia 5 [RCV002170102] Chr11:119346176 [GRCh38]
Chr11:119216886 [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.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.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.1230C>A (p.Thr410=) single nucleotide variant Isolated microphthalmia 5 [RCV002189521] Chr11:119342898 [GRCh38]
Chr11:119213608 [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.213C>T (p.Leu71=) single nucleotide variant Isolated microphthalmia 5 [RCV002141743] Chr11:119346104 [GRCh38]
Chr11:119216814 [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.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.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.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.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.1255+15G>T single nucleotide variant Isolated microphthalmia 5 [RCV002107137] Chr11:119342858 [GRCh38]
Chr11:119213568 [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.1388-19del deletion Isolated microphthalmia 5 [RCV002127743] Chr11:119342003 [GRCh38]
Chr11:119212713 [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.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.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.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.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.899-4A>G single nucleotide variant Isolated microphthalmia 5 [RCV002147501] Chr11:119344395 [GRCh38]
Chr11:119215105 [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.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_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.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.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.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.158-19C>T single nucleotide variant Isolated microphthalmia 5 [RCV002191701] Chr11:119346178 [GRCh38]
Chr11:119216888 [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.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.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.772+14_772+15delinsAT indel Isolated microphthalmia 5 [RCV002195373] Chr11:119344859..119344860 [GRCh38]
Chr11:119215569..119215570 [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.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.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.642-15C>A single nucleotide variant Isolated microphthalmia 5 [RCV002200840] Chr11:119345019 [GRCh38]
Chr11:119215729 [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.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_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.165T>C (p.Arg55=) single nucleotide variant Isolated microphthalmia 5 [RCV002181499] Chr11:119346152 [GRCh38]
Chr11:119216862 [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.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.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.899-15del deletion Isolated microphthalmia 5 [RCV002214759] Chr11:119344406 [GRCh38]
Chr11:119215116 [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_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.1068T>C (p.Phe356=) single nucleotide variant Isolated microphthalmia 5 [RCV002167532] Chr11:119343872 [GRCh38]
Chr11:119214582 [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_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.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.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.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.976-10C>T single nucleotide variant Isolated microphthalmia 5 [RCV002130980] Chr11:119343974 [GRCh38]
Chr11:119214684 [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_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
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.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.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.443T>C (p.Leu148Pro) single nucleotide variant Isolated microphthalmia 5 [RCV002295874] Chr11:119345618 [GRCh38]
Chr11:119216328 [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.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.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.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.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.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.1125-20C>T single nucleotide variant Isolated microphthalmia 5 [RCV002730252] Chr11:119343023 [GRCh38]
Chr11:119213733 [GRCh37]
Chr11:11q23.3		 likely benign
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_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_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.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.271+10C>A single nucleotide variant Isolated microphthalmia 5 [RCV002816077] Chr11:119346036 [GRCh38]
Chr11:119216746 [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.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.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.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.294T>A (p.Ser98=) single nucleotide variant Isolated microphthalmia 5 [RCV002750973] Chr11:119345906 [GRCh38]
Chr11:119216616 [GRCh37]
Chr11:11q23.3		 likely benign
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.343A>C (p.Thr115Pro) single nucleotide variant Isolated microphthalmia 5 [RCV002616653] Chr11:119345857 [GRCh38]
Chr11:119216567 [GRCh37]
Chr11:11q23.3		 uncertain significance
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_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_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_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_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.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.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.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.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.1228_1234del (p.Thr410fs) deletion Isolated microphthalmia 5 [RCV002847950] Chr11:119342894..119342900 [GRCh38]
Chr11:119213604..119213610 [GRCh37]
Chr11:11q23.3		 pathogenic
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.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.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.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.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.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.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.663C>T (p.Pro221=) single nucleotide variant Isolated microphthalmia 5 [RCV003052910] Chr11:119344983 [GRCh38]
Chr11:119215693 [GRCh37]
Chr11:11q23.3		 likely benign
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.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.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.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.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.371C>T (p.Ala124Val) single nucleotide variant Isolated microphthalmia 5 [RCV002885804] Chr11:119345829 [GRCh38]
Chr11:119216539 [GRCh37]
Chr11:11q23.3		 uncertain significance
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.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.498C>G (p.Pro166=) single nucleotide variant Isolated microphthalmia 5 [RCV002870802] Chr11:119345563 [GRCh38]
Chr11:119216273 [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.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.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.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.1150del (p.His384fs) deletion Isolated microphthalmia 5 [RCV003079179] Chr11:119342978 [GRCh38]
Chr11:119213688 [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.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_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.272-8G>A single nucleotide variant Isolated microphthalmia 5 [RCV003080055] Chr11:119345936 [GRCh38]
Chr11:119216646 [GRCh37]
Chr11:11q23.3		 likely 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.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_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.641+8C>T single nucleotide variant Isolated microphthalmia 5 [RCV003059013] Chr11:119345412 [GRCh38]
Chr11:119216122 [GRCh37]
Chr11:11q23.3		 likely benign
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_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_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_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_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_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_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_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_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_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.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.337ACC[5] (p.Thr116_Pro117insThr) microsatellite Isolated microphthalmia 5 [RCV002963213] Chr11:119345851..119345852 [GRCh38]
Chr11:119216561..119216562 [GRCh37]
Chr11:11q23.3		 uncertain significance
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.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.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_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.1515+20G>A single nucleotide variant Isolated microphthalmia 5 [RCV002810866] Chr11:119341837 [GRCh38]
Chr11:119212547 [GRCh37]
Chr11:11q23.3		 likely benign
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_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.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.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.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.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.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.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.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.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.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.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.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.1579C>T (p.Arg527Cys) single nucleotide variant Inborn genetic diseases [RCV003355062] Chr11:119341709 [GRCh38]
Chr11:119212419 [GRCh37]
Chr11:11q23.3		 uncertain significance
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_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
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.993C>T (p.Ile331=) single nucleotide variant Isolated microphthalmia 5 [RCV003503594] Chr11:119343947 [GRCh38]
Chr11:119214657 [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.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.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.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.1256-17G>T single nucleotide variant Isolated microphthalmia 5 [RCV003503582] Chr11:119342744 [GRCh38]
Chr11:119213454 [GRCh37]
Chr11:11q23.3		 likely benign
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.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.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.465C>A (p.Phe155Leu) single nucleotide variant Isolated microphthalmia 5 [RCV003613523] Chr11:119345596 [GRCh38]
Chr11:119216306 [GRCh37]
Chr11:11q23.3		 uncertain significance
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_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_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_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.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.976-4C>G single nucleotide variant Isolated microphthalmia 5 [RCV003612928] Chr11:119343968 [GRCh38]
Chr11:119214678 [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.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.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.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.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.1212T>C (p.Ser404=) single nucleotide variant Isolated microphthalmia 5 [RCV003503579] Chr11:119342916 [GRCh38]
Chr11:119213626 [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_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_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.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.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.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.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.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.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_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.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_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.843T>G (p.Gly281=) single nucleotide variant Isolated microphthalmia 5 [RCV003858859] Chr11:119344687 [GRCh38]
Chr11:119215397 [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
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.981C>G (p.Cys327Trp) single nucleotide variant Inborn genetic diseases [RCV004417053] Chr11:119343959 [GRCh38]
Chr11:119214669 [GRCh37]
Chr11:11q23.3		 uncertain significance
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.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.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_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.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.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.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.549G>A (p.Gly183=) single nucleotide variant not provided [RCV004546380] Chr11:119339514 [GRCh38]
Chr11:119210224 [GRCh37]
Chr11:11q23.3		 likely benign
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.1486G>A (p.Glu496Lys) single nucleotide variant Isolated microphthalmia 5 [RCV004577056] Chr11:119341886 [GRCh38]
Chr11:119212596 [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.1497G>T (p.Glu499Asp) single nucleotide variant Inborn genetic diseases [RCV004628826] Chr11:119341875 [GRCh38]
Chr11:119212585 [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.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_001278431.2(C1QTNF5):c.142G>A (p.Gly48Ser) single nucleotide variant Late-onset retinal degeneration [RCV004759676]   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_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.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.1256-16C>A single nucleotide variant Isolated microphthalmia 5 [RCV005193982] Chr11:119342743 [GRCh38]
Chr11:119213453 [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_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.634dup (p.Leu212fs) duplication Isolated microphthalmia 5 [RCV005199749] Chr11:119345426..119345427 [GRCh38]
Chr11:119216136..119216137 [GRCh37]
Chr11:11q23.3		 pathogenic
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_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_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_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.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.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_031433.4(MFRP):c.1296del (p.Cys433fs) deletion Isolated microphthalmia 5 [RCV005194522] Chr11:119342687 [GRCh38]
Chr11:119213397 [GRCh37]
Chr11:11q23.3		 pathogenic
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.274C>T (p.Leu92=) single nucleotide variant Isolated microphthalmia 5 [RCV005187521] Chr11:119345926 [GRCh38]
Chr11:119216636 [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.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.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.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.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.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.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.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.228T>A (p.Pro76=) single nucleotide variant not provided [RCV005169205] Chr11:119339835 [GRCh38]
Chr11:119210545 [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.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.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.436C>A (p.Gln146Lys) single nucleotide variant not provided [RCV005127738] Chr11:119339627 [GRCh38]
Chr11:119210337 [GRCh37]
Chr11:11q23.3		 uncertain significance
miRNA Target Status (No longer updated)

Predicted Target Of
Summary Value
Count of predictions:1066
Count of miRNA genes:471
Interacting mature miRNAs:540
Transcripts:ENST00000445041, ENST00000525657, ENST00000528368
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
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1157 1924 1872 1958 3080 1047 1419 2 182 362 75 1509 3687 4242 1 2531 1 384 884 1159 110 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_012235 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001278431 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_015645 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB055505 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF086482 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF329841 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ862823 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK055132 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL110261 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP003396 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY358383 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC029485 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC036675 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471065 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068267 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB534759 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF444994 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000525657
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11119,339,370 - 119,340,798 (-)Ensembl
Ensembl Acc Id: ENST00000528368   ⟹   ENSP00000431140
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11119,338,942 - 119,340,883 (-)Ensembl
Ensembl Acc Id: ENST00000530681   ⟹   ENSP00000456533
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11119,339,187 - 119,340,567 (-)Ensembl
Ensembl Acc Id: ENST00000634633   ⟹   ENSP00000489201
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11119,339,775 - 119,340,940 (-)Ensembl
RefSeq Acc Id: NM_001278431   ⟹   NP_001265360
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811119,338,942 - 119,340,883 (-)NCBI
HuRef11115,150,343 - 115,158,082 (-)NCBI
CHM1_111119,096,203 - 119,098,152 (-)NCBI
T2T-CHM13v2.011119,359,579 - 119,361,520 (-)NCBI
Sequence:
RefSeq Acc Id: NM_015645   ⟹   NP_056460
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 3611118,714,862 - 118,716,791 (-)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_056460   ⟸   NM_015645
- Peptide Label: precursor
- UniProtKB: Q8N6P2 (UniProtKB/Swiss-Prot),   Q335M2 (UniProtKB/Swiss-Prot),   B0YJ35 (UniProtKB/Swiss-Prot),   A6NDD3 (UniProtKB/Swiss-Prot),   Q9UFX4 (UniProtKB/Swiss-Prot),   Q9BXJ0 (UniProtKB/Swiss-Prot),   A0A024R3F8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001265360   ⟸   NM_001278431
- Peptide Label: precursor
- UniProtKB: Q8N6P2 (UniProtKB/Swiss-Prot),   Q335M2 (UniProtKB/Swiss-Prot),   B0YJ35 (UniProtKB/Swiss-Prot),   A6NDD3 (UniProtKB/Swiss-Prot),   Q9UFX4 (UniProtKB/Swiss-Prot),   Q9BXJ0 (UniProtKB/Swiss-Prot),   A0A024R3F8 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000489201   ⟸   ENST00000634633
Ensembl Acc Id: ENSP00000456533   ⟸   ENST00000530681
Ensembl Acc Id: ENSP00000431140   ⟸   ENST00000528368
Protein Domains
C1q   Collagen-like

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9BXJ0-F1-model_v2 AlphaFold Q9BXJ0 1-243 view protein structure

Promoters
RGD ID:7222403
Promoter ID:EPDNEW_H16947
Type:initiation region
Name:MFRP_3
Description:membrane frizzled-related protein
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H16948  EPDNEW_H16951  EPDNEW_H16952  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811119,339,208 - 119,339,268EPDNEW
RGD ID:7222405
Promoter ID:EPDNEW_H16948
Type:initiation region
Name:MFRP_4
Description:membrane frizzled-related protein
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H16947  EPDNEW_H16951  EPDNEW_H16952  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811119,340,211 - 119,340,271EPDNEW
RGD ID:7222407
Promoter ID:EPDNEW_H16949
Type:initiation region
Name:C1QTNF5_1
Description:C1q and TNF related 5
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H16950  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811119,340,550 - 119,340,610EPDNEW
RGD ID:7222409
Promoter ID:EPDNEW_H16950
Type:initiation region
Name:C1QTNF5_2
Description:C1q and TNF related 5
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H16949  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811119,340,883 - 119,340,943EPDNEW
RGD ID:7222411
Promoter ID:EPDNEW_H16951
Type:initiation region
Name:MFRP_1
Description:membrane frizzled-related protein
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H16947  EPDNEW_H16948  EPDNEW_H16952  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811119,340,883 - 119,340,943EPDNEW
RGD ID:7222415
Promoter ID:EPDNEW_H16952
Type:initiation region
Name:MFRP_2
Description:membrane frizzled-related protein
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H16947  EPDNEW_H16948  EPDNEW_H16951  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811119,346,617 - 119,346,677EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:14344 AgrOrtholog
COSMIC C1QTNF5 COSMIC
Ensembl Genes ENSG00000223953 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000528368 ENTREZGENE
  ENST00000528368.3 UniProtKB/Swiss-Prot
  ENST00000530681.2 UniProtKB/Swiss-Prot
Gene3D-CATH 2.60.120.40 UniProtKB/Swiss-Prot
GTEx ENSG00000223953 GTEx
HGNC ID HGNC:14344 ENTREZGENE
Human Proteome Map C1QTNF5 Human Proteome Map
InterPro C1q_dom UniProtKB/Swiss-Prot
  Collagen UniProtKB/Swiss-Prot
  Collagen/C1q_domain UniProtKB/Swiss-Prot
  Tumour_necrosis_fac-like_dom UniProtKB/Swiss-Prot
KEGG Report hsa:114902 UniProtKB/Swiss-Prot
NCBI Gene 114902 ENTREZGENE
OMIM 608752 OMIM
PANTHER COMPLEMENT C1Q TUMOR NECROSIS FACTOR-RELATED PROTEIN 5 UniProtKB/Swiss-Prot
  EMILIN ELASTIN MICROFIBRIL INTERFACE-LOCATED PROTEIN ELASTIN MICROFIBRIL INTERFACER UniProtKB/Swiss-Prot
Pfam C1q UniProtKB/Swiss-Prot
  Collagen UniProtKB/Swiss-Prot
PharmGKB PA25632 PharmGKB
PRINTS COMPLEMNTC1Q UniProtKB/Swiss-Prot
PROSITE C1Q UniProtKB/Swiss-Prot
SMART C1Q UniProtKB/Swiss-Prot
Superfamily-SCOP SSF49842 UniProtKB/Swiss-Prot
UniProt A0A024R3F8 ENTREZGENE, UniProtKB/TrEMBL
  A0A0U1RQW5_HUMAN UniProtKB/TrEMBL
  A6NDD3 ENTREZGENE
  B0YJ35 ENTREZGENE
  C1QT5_HUMAN UniProtKB/Swiss-Prot
  Q335M2 ENTREZGENE
  Q8N6P2 ENTREZGENE
  Q9BXJ0 ENTREZGENE
  Q9UFX4 ENTREZGENE
UniProt Secondary A6NDD3 UniProtKB/Swiss-Prot
  B0YJ35 UniProtKB/Swiss-Prot
  Q335M2 UniProtKB/Swiss-Prot
  Q8N6P2 UniProtKB/Swiss-Prot
  Q9UFX4 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2017-03-07 C1QTNF5  C1q and TNF related 5    C1q and tumor necrosis factor related protein 5  Symbol and/or name change 5135510 APPROVED