VSX2 (visual system homeobox 2) - Rat Genome Database

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Gene: VSX2 (visual system homeobox 2) Homo sapiens
Analyze
Symbol: VSX2
Name: visual system homeobox 2
RGD ID: 1348218
HGNC Page HGNC:1975
Description: Enables DNA-binding transcription repressor activity, RNA polymerase II-specific and RNA polymerase II transcription regulatory region sequence-specific DNA binding activity. Involved in negative regulation of transcription by RNA polymerase II. Predicted to be located in cytoplasm. Predicted to be part of chromatin. Predicted to be active in nucleus. Implicated in blindness and isolated microphthalmia 2.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: ceh-10 homeo domain containing homolog; ceh-10 homeo domain containing homolog (c. elegans); ceh-10 homeodomain-containing homolog; CHX10; homeobox protein CHX10; HOX10; MCOP2; MCOPCB3; RET1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381474,239,449 - 74,262,738 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1474,239,449 - 74,262,738 (+)EnsemblGRCh38hg38GRCh38
GRCh371474,706,152 - 74,729,441 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361473,775,928 - 73,799,194 (+)NCBINCBI36Build 36hg18NCBI36
Build 341473,775,927 - 73,799,193NCBI
Celera1454,743,463 - 54,766,749 (+)NCBICelera
Cytogenetic Map14q24.3NCBI
HuRef1454,873,146 - 54,896,407 (+)NCBIHuRef
CHM1_11474,645,738 - 74,668,970 (+)NCBICHM1_1
T2T-CHM13v2.01468,447,256 - 68,470,582 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. Human microphthalmia associated with mutations in the retinal homeobox gene CHX10. Ferda Percin E, etal., Nat Genet 2000 Aug;25(4):397-401.
2. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
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:1973146   PMID:9847074   PMID:11069920   PMID:12477932   PMID:12508121   PMID:15257456   PMID:15647262   PMID:15909363   PMID:16236706   PMID:17661825   PMID:18029348   PMID:18385794  
PMID:18514541   PMID:18648522   PMID:19274049   PMID:19638341   PMID:19843539   PMID:20057906   PMID:20301552   PMID:20414678   PMID:20494911   PMID:20565746   PMID:21873635   PMID:21976963  
PMID:24001013   PMID:24532057   PMID:24705354   PMID:26186194   PMID:26292211   PMID:27301076   PMID:28121235   PMID:28473536   PMID:28514442   PMID:31666091   PMID:32814053   PMID:33961781  
PMID:35831950   PMID:36264558  


Genomics

Comparative Map Data
VSX2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381474,239,449 - 74,262,738 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1474,239,449 - 74,262,738 (+)EnsemblGRCh38hg38GRCh38
GRCh371474,706,152 - 74,729,441 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361473,775,928 - 73,799,194 (+)NCBINCBI36Build 36hg18NCBI36
Build 341473,775,927 - 73,799,193NCBI
Celera1454,743,463 - 54,766,749 (+)NCBICelera
Cytogenetic Map14q24.3NCBI
HuRef1454,873,146 - 54,896,407 (+)NCBIHuRef
CHM1_11474,645,738 - 74,668,970 (+)NCBICHM1_1
T2T-CHM13v2.01468,447,256 - 68,470,582 (+)NCBIT2T-CHM13v2.0
Vsx2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391284,616,602 - 84,642,231 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1284,616,536 - 84,642,231 (+)EnsemblGRCm39 Ensembl
GRCm381284,569,828 - 84,595,457 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1284,569,762 - 84,595,457 (+)EnsemblGRCm38mm10GRCm38
MGSCv371285,910,802 - 85,936,407 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361285,459,600 - 85,485,205 (+)NCBIMGSCv36mm8
Celera1286,025,411 - 86,051,063 (+)NCBICelera
Cytogenetic Map12D1NCBI
cM Map1239.28NCBI
Vsx2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr86109,932,943 - 109,972,005 (+)NCBIGRCr8
mRatBN7.26104,214,842 - 104,240,264 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl6104,217,230 - 104,240,018 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx6104,379,571 - 104,402,356 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.06104,678,655 - 104,701,440 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.06104,048,242 - 104,071,028 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.06108,285,031 - 108,308,588 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl6108,285,822 - 108,308,587 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.06117,237,657 - 117,260,423 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.46108,638,063 - 108,660,830 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.16108,647,664 - 108,647,779 (+)NCBI
Celera6102,045,137 - 102,067,982 (+)NCBICelera
Cytogenetic Map6q31NCBI
Vsx2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555231,193,686 - 1,210,641 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049555231,192,035 - 1,207,949 (-)NCBIChiLan1.0ChiLan1.0
VSX2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21575,328,455 - 75,349,803 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11474,544,961 - 74,566,309 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01454,797,734 - 54,821,081 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11473,651,133 - 73,672,666 (+)NCBIpanpan1.1PanPan1.1panPan2
VSX2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1847,455,337 - 47,473,786 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl847,455,340 - 47,473,684 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha847,140,385 - 47,158,661 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0847,682,709 - 47,700,996 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl847,682,709 - 47,700,979 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1847,351,896 - 47,370,154 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0847,373,742 - 47,392,004 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0847,760,454 - 47,778,742 (+)NCBIUU_Cfam_GSD_1.0
Vsx2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440864028,561,166 - 28,581,265 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049364883,487,702 - 3,508,191 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049364883,487,718 - 3,507,802 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
VSX2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl797,531,860 - 97,552,033 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1797,532,021 - 97,551,072 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.27103,375,425 - 103,394,310 (+)NCBISscrofa10.2Sscrofa10.2susScr3
VSX2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12451,446,781 - 51,471,156 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2451,447,714 - 51,469,345 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605339,680,858 - 39,704,250 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Vsx2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462473427,344,221 - 27,363,372 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462473427,342,668 - 27,363,372 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in VSX2
325 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_182894.3(VSX2):c.66G>C (p.Ser22=) single nucleotide variant Isolated microphthalmia 2 [RCV000554268] Chr14:74239627 [GRCh38]
Chr14:74706330 [GRCh37]
Chr14:14q24.3
likely benign
NM_182894.3(VSX2):c.599G>A (p.Arg200Gln) single nucleotide variant Isolated microphthalmia 2 [RCV001851882]|Microphthalmia, cataracts, and iris abnormalities [RCV000015985] Chr14:74259621 [GRCh38]
Chr14:74726324 [GRCh37]
Chr14:14q24.3
pathogenic
NM_182894.3(VSX2):c.599G>C (p.Arg200Pro) single nucleotide variant Isolated microphthalmia 2 [RCV000015987]|Microphthalmia, cataracts, and iris abnormalities [RCV000015986]|Microphthalmia, isolated, with coloboma 3 [RCV001330573]|not provided [RCV000413928] Chr14:74259621 [GRCh38]
Chr14:74726324 [GRCh37]
Chr14:14q24.3
pathogenic|likely pathogenic
NM_182894.3(VSX2):c.679C>T (p.Arg227Trp) single nucleotide variant Isolated microphthalmia 2 [RCV000015988]|Microphthalmia [RCV000786019]|Microphthalmia, isolated, with coloboma 3 [RCV000714543] Chr14:74259701 [GRCh38]
Chr14:74726404 [GRCh37]
Chr14:14q24.3
pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NG_013092.1:g.(7926_9509)_(12624_14744)del deletion Isolated microphthalmia 2 [RCV000015989] Chr14:14q24.3 pathogenic
CHX10, IVS1, G-A, -1 single nucleotide variant Microphthalmia, isolated, with coloboma 3 [RCV000015990] Chr14:14q24.3 pathogenic
NM_182894.3(VSX2):c.821G>A (p.Arg274His) single nucleotide variant Inborn genetic diseases [RCV002535103]|Isolated microphthalmia 2 [RCV001240477]|not provided [RCV000729037] Chr14:74260654 [GRCh38]
Chr14:74727357 [GRCh37]
Chr14:14q24.3
uncertain significance
GRCh38/hg38 14q24.3(chr14:73877072-78042422)x1 copy number loss See cases [RCV000051548] Chr14:73877072..78042422 [GRCh38]
Chr14:74343775..78508765 [GRCh37]
Chr14:73413528..77578518 [NCBI36]
Chr14:14q24.3
pathogenic
GRCh38/hg38 14q24.2-32.2(chr14:72787506-99596719)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052293]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052293]|See cases [RCV000052293] Chr14:72787506..99596719 [GRCh38]
Chr14:73254214..100063056 [GRCh37]
Chr14:72323967..99132809 [NCBI36]
Chr14:14q24.2-32.2
pathogenic
NM_182894.3(VSX2):c.866G>A (p.Gly289Asp) single nucleotide variant Microphthalmia, isolated, with coloboma 3 [RCV000673950]|not provided [RCV000058885] Chr14:74260699 [GRCh38]
Chr14:74727402 [GRCh37]
Chr14:14q24.3
uncertain significance|not provided
NM_182894.3(VSX2):c.371-6T>C single nucleotide variant not provided [RCV000082717] Chr14:74241176 [GRCh38]
Chr14:74707879 [GRCh37]
Chr14:14q24.3
uncertain significance
GRCh37/hg19 14q24.2-q24.3(chr14:73152115..77698582) deletion Intellectual disability, mild [RCV000190520] Chr14:73152115..77698582 [GRCh37]
Chr14:14q24.2-24.3
pathogenic|likely pathogenic
NM_182894.3(VSX2):c.871G>A (p.Asp291Asn) single nucleotide variant Isolated microphthalmia 2 [RCV000530264]|Microphthalmia, isolated, with coloboma 3 [RCV000394769]|not provided [RCV000828982]|not specified [RCV000179037] Chr14:74260704 [GRCh38]
Chr14:74727407 [GRCh37]
Chr14:14q24.3
benign|likely benign
NM_182894.3(VSX2):c.831G>A (p.Leu277=) single nucleotide variant Isolated microphthalmia 2 [RCV000394774]|Microphthalmia [RCV001826913]|Microphthalmia, isolated, with coloboma 3 [RCV000349216]|not provided [RCV001618334]|not specified [RCV000179038] Chr14:74260664 [GRCh38]
Chr14:74727367 [GRCh37]
Chr14:14q24.3
benign|likely benign
NM_182894.3(VSX2):c.336G>A (p.Ser112=) single nucleotide variant Isolated microphthalmia 2 [RCV001087653]|Microphthalmia [RCV001275440]|not provided [RCV000173584] Chr14:74239897 [GRCh38]
Chr14:74706600 [GRCh37]
Chr14:14q24.3
benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh38/hg38 14q24.1-31.1(chr14:69562099-81975384)x1 copy number loss See cases [RCV000134154] Chr14:69562099..81975384 [GRCh38]
Chr14:70028816..82441728 [GRCh37]
Chr14:69098569..81511481 [NCBI36]
Chr14:14q24.1-31.1
pathogenic
GRCh38/hg38 14q24.3-32.33(chr14:73655772-106879298)x3 copy number gain See cases [RCV000134000] Chr14:73655772..106879298 [GRCh38]
Chr14:74122475..107287505 [GRCh37]
Chr14:73192228..106358550 [NCBI36]
Chr14:14q24.3-32.33
pathogenic
GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3 copy number gain See cases [RCV000135543] Chr14:20151149..106855263 [GRCh38]
Chr14:20619308..107263478 [GRCh37]
Chr14:19689148..106334523 [NCBI36]
Chr14:14q11.2-32.33
pathogenic
GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3 copy number gain See cases [RCV000143373] Chr14:20043514..106877229 [GRCh38]
Chr14:20511673..107285437 [GRCh37]
Chr14:19581513..106356482 [NCBI36]
Chr14:14q11.2-32.33
pathogenic
GRCh38/hg38 14q24.3-31.1(chr14:73343213-78835059)x1 copy number loss See cases [RCV000143265] Chr14:73343213..78835059 [GRCh38]
Chr14:73809921..79301402 [GRCh37]
Chr14:72879674..78371155 [NCBI36]
Chr14:14q24.3-31.1
pathogenic|likely pathogenic
NM_182894.3(VSX2):c.299C>A (p.Pro100Gln) single nucleotide variant Isolated microphthalmia 2 [RCV000525664]|Microphthalmia [RCV001277211]|Microphthalmia, isolated, with coloboma 3 [RCV001117921]|not provided [RCV001682871]|not specified [RCV000154136] Chr14:74239860 [GRCh38]
Chr14:74706563 [GRCh37]
Chr14:14q24.3
benign|likely benign|uncertain significance
NM_182894.3(VSX2):c.471C>T (p.Ser157=) single nucleotide variant Isolated microphthalmia 2 [RCV000276080]|Microphthalmia [RCV001835694]|Microphthalmia, isolated, with coloboma 3 [RCV000368201]|not provided [RCV001651025]|not specified [RCV000154137] Chr14:74245180 [GRCh38]
Chr14:74711883 [GRCh37]
Chr14:14q24.3
benign
NM_182894.3(VSX2):c.576A>G (p.Ile192Met) single nucleotide variant not provided [RCV000154138] Chr14:74245285 [GRCh38]
Chr14:74711988 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_182894.3(VSX2):c.667G>A (p.Gly223Arg) single nucleotide variant Anophthalmia-microphthalmia syndrome [RCV000207355]|Isolated microphthalmia 2 [RCV001378265]|Microphthalmia [RCV001828043]|VSX2-related Microphthalmia [RCV000778906] Chr14:74259689 [GRCh38]
Chr14:74726392 [GRCh37]
Chr14:14q24.3
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_182894.3(VSX2):c.71dup (p.Ala25fs) duplication Anophthalmia-microphthalmia syndrome [RCV000207414] Chr14:74239626..74239627 [GRCh38]
Chr14:74706329..74706330 [GRCh37]
Chr14:14q24.3
pathogenic
NM_182894.3(VSX2):c.166C>T (p.Leu56=) single nucleotide variant Isolated microphthalmia 2 [RCV001494899] Chr14:74239727 [GRCh38]
Chr14:74706430 [GRCh37]
Chr14:14q24.3
likely benign
NM_182894.3(VSX2):c.244G>A (p.Gly82Arg) single nucleotide variant Isolated microphthalmia 2 [RCV001085005]|Microphthalmia, isolated, with coloboma 3 [RCV000307977]|not provided [RCV000350100] Chr14:74239805 [GRCh38]
Chr14:74706508 [GRCh37]
Chr14:14q24.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_182894.3(VSX2):c.*156G>A single nucleotide variant Isolated microphthalmia 2 [RCV000281917]|Microphthalmia, isolated, with coloboma 3 [RCV000339327] Chr14:74261075 [GRCh38]
Chr14:74727778 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_182894.3(VSX2):c.-54G>A single nucleotide variant Isolated microphthalmia 2 [RCV000339371]|Microphthalmia, isolated, with coloboma 3 [RCV000281971] Chr14:74239508 [GRCh38]
Chr14:74706211 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_182894.3(VSX2):c.*1565G>A single nucleotide variant Isolated microphthalmia 2 [RCV000282273]|Microphthalmia, isolated, with coloboma 3 [RCV000337211] Chr14:74262484 [GRCh38]
Chr14:74729187 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_182894.3(VSX2):c.*1029T>A single nucleotide variant Isolated microphthalmia 2 [RCV000283312]|Microphthalmia, isolated, with coloboma 3 [RCV000375525] Chr14:74261948 [GRCh38]
Chr14:74728651 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_182894.3(VSX2):c.750G>A (p.Pro250=) single nucleotide variant Isolated microphthalmia 2 [RCV000877377]|Microphthalmia [RCV001277213]|Microphthalmia, isolated, with coloboma 3 [RCV000376639] Chr14:74259772 [GRCh38]
Chr14:74726475 [GRCh37]
Chr14:14q24.3
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_182894.3(VSX2):c.921G>T (p.Ala307=) single nucleotide variant Isolated microphthalmia 2 [RCV000359545]|Microphthalmia, isolated, with coloboma 3 [RCV000302651] Chr14:74260754 [GRCh38]
Chr14:74727457 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_182894.3(VSX2):c.*250C>T single nucleotide variant Isolated microphthalmia 2 [RCV000396643]|Microphthalmia, isolated, with coloboma 3 [RCV000304032] Chr14:74261169 [GRCh38]
Chr14:74727872 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_182894.3(VSX2):c.939T>A (p.Ala313=) single nucleotide variant Isolated microphthalmia 2 [RCV000543008]|Microphthalmia [RCV001275947]|Microphthalmia, isolated, with coloboma 3 [RCV000324740] Chr14:74260772 [GRCh38]
Chr14:74727475 [GRCh37]
Chr14:14q24.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_182894.3(VSX2):c.*11G>A single nucleotide variant Isolated microphthalmia 2 [RCV000270557]|Microphthalmia, isolated, with coloboma 3 [RCV000381669] Chr14:74260930 [GRCh38]
Chr14:74727633 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_182894.3(VSX2):c.*1803A>C single nucleotide variant Isolated microphthalmia 2 [RCV000363383]|Microphthalmia, isolated, with coloboma 3 [RCV000268739] Chr14:74262722 [GRCh38]
Chr14:74729425 [GRCh37]
Chr14:14q24.3
likely benign
NM_182894.3(VSX2):c.*1161C>A single nucleotide variant Isolated microphthalmia 2 [RCV000344440]|Microphthalmia, isolated, with coloboma 3 [RCV000286976]|not provided [RCV003324743] Chr14:74262080 [GRCh38]
Chr14:74728783 [GRCh37]
Chr14:14q24.3
likely benign|uncertain significance
NM_182894.3(VSX2):c.777G>T (p.Ser259=) single nucleotide variant Isolated microphthalmia 2 [RCV000345660]|Microphthalmia, isolated, with coloboma 3 [RCV000288252] Chr14:74260610 [GRCh38]
Chr14:74727313 [GRCh37]
Chr14:14q24.3
conflicting interpretations of pathogenicity|uncertain significance
NM_182894.3(VSX2):c.*1511C>T single nucleotide variant Isolated microphthalmia 2 [RCV000325791]|Microphthalmia, isolated, with coloboma 3 [RCV000289733] Chr14:74262430 [GRCh38]
Chr14:74729133 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_182894.3(VSX2):c.*579C>T single nucleotide variant Isolated microphthalmia 2 [RCV000330134]|Microphthalmia, isolated, with coloboma 3 [RCV000272644] Chr14:74261498 [GRCh38]
Chr14:74728201 [GRCh37]
Chr14:14q24.3
benign|likely benign
NM_182894.3(VSX2):c.*1212G>A single nucleotide variant Isolated microphthalmia 2 [RCV000309454]|Microphthalmia, isolated, with coloboma 3 [RCV000396428] Chr14:74262131 [GRCh38]
Chr14:74728834 [GRCh37]
Chr14:14q24.3
likely benign|uncertain significance
NM_182894.3(VSX2):c.*1347G>A single nucleotide variant Isolated microphthalmia 6 [RCV000333109]|VSX2-related Microphthalmia [RCV000259328] Chr14:74262266 [GRCh38]
Chr14:74728969 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_182894.3(VSX2):c.*1377C>T single nucleotide variant Isolated microphthalmia 2 [RCV000369121]|Microphthalmia, isolated, with coloboma 3 [RCV000274415]|not provided [RCV002285311] Chr14:74262296 [GRCh38]
Chr14:74728999 [GRCh37]
Chr14:14q24.3
likely benign|uncertain significance
NM_182894.3(VSX2):c.810C>G (p.Pro270=) single nucleotide variant Isolated microphthalmia 2 [RCV000383842]|Microphthalmia, isolated, with coloboma 3 [RCV000291925] Chr14:74260643 [GRCh38]
Chr14:74727346 [GRCh37]
Chr14:14q24.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_182894.3(VSX2):c.*39C>T single nucleotide variant Isolated microphthalmia 2 [RCV000350224]|Microphthalmia, isolated, with coloboma 3 [RCV000292782]|not provided [RCV001712021] Chr14:74260958 [GRCh38]
Chr14:74727661 [GRCh37]
Chr14:14q24.3
benign|likely benign
NM_182894.3(VSX2):c.863G>A (p.Arg288Gln) single nucleotide variant Isolated microphthalmia 6 [RCV000313331]|VSX2-related Microphthalmia [RCV000351791]|not provided [RCV003165846] Chr14:74260696 [GRCh38]
Chr14:74727399 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_182894.3(VSX2):c.*670G>A single nucleotide variant Isolated microphthalmia 2 [RCV000276005]|Microphthalmia, isolated, with coloboma 3 [RCV000368438] Chr14:74261589 [GRCh38]
Chr14:74728292 [GRCh37]
Chr14:14q24.3
benign|likely benign
NM_182894.3(VSX2):c.874G>C (p.Ala292Pro) single nucleotide variant Isolated microphthalmia 2 [RCV000356303]|Microphthalmia [RCV001278145]|Microphthalmia, isolated, with coloboma 3 [RCV000263880] Chr14:74260707 [GRCh38]
Chr14:74727410 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_182894.3(VSX2):c.*45T>C single nucleotide variant Isolated microphthalmia 2 [RCV000296506]|Microphthalmia, isolated, with coloboma 3 [RCV000388454] Chr14:74260964 [GRCh38]
Chr14:74727667 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_182894.3(VSX2):c.579G>A (p.Gln193=) single nucleotide variant Isolated microphthalmia 2 [RCV000877376]|Microphthalmia [RCV001277212]|Microphthalmia, isolated, with coloboma 3 [RCV000262234] Chr14:74245288 [GRCh38]
Chr14:74711991 [GRCh37]
Chr14:14q24.3
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_182894.3(VSX2):c.*1585A>C single nucleotide variant Isolated microphthalmia 2 [RCV000403891]|Microphthalmia, isolated, with coloboma 3 [RCV000297637] Chr14:74262504 [GRCh38]
Chr14:74729207 [GRCh37]
Chr14:14q24.3
likely benign|uncertain significance
NM_182894.3(VSX2):c.*1311G>A single nucleotide variant Isolated microphthalmia 2 [RCV000354163]|Microphthalmia, isolated, with coloboma 3 [RCV000299353]|not provided [RCV002244796] Chr14:74262230 [GRCh38]
Chr14:74728933 [GRCh37]
Chr14:14q24.3
likely benign|uncertain significance
NM_182894.3(VSX2):c.*855G>A single nucleotide variant Isolated microphthalmia 2 [RCV000318631]|Microphthalmia, isolated, with coloboma 3 [RCV000279656] Chr14:74261774 [GRCh38]
Chr14:74728477 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_182894.3(VSX2):c.*1302G>A single nucleotide variant Isolated microphthalmia 2 [RCV000396422]|Microphthalmia, isolated, with coloboma 3 [RCV000366501]|not provided [RCV001690044] Chr14:74262221 [GRCh38]
Chr14:74728924 [GRCh37]
Chr14:14q24.3
benign|likely benign
NM_182894.3(VSX2):c.650C>T (p.Ala217Val) single nucleotide variant VSX2-related condition [RCV003391038]|not provided [RCV000378514] Chr14:74259672 [GRCh38]
Chr14:74726375 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_182894.3(VSX2):c.777G>A (p.Ser259=) single nucleotide variant Isolated microphthalmia 2 [RCV000323426]|Microphthalmia, isolated, with coloboma 3 [RCV000380249] Chr14:74260610 [GRCh38]
Chr14:74727313 [GRCh37]
Chr14:14q24.3
conflicting interpretations of pathogenicity|uncertain significance
NM_182894.3(VSX2):c.*1764A>G single nucleotide variant Isolated microphthalmia 2 [RCV000272424]|Microphthalmia, isolated, with coloboma 3 [RCV000308747] Chr14:74262683 [GRCh38]
Chr14:74729386 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_182894.3(VSX2):c.522C>T (p.Asp174=) single nucleotide variant Isolated microphthalmia 2 [RCV000644623]|Microphthalmia [RCV001833394]|not provided [RCV001531809]|not specified [RCV000278619] Chr14:74245231 [GRCh38]
Chr14:74711934 [GRCh37]
Chr14:14q24.3
benign|likely benign
NM_182894.3(VSX2):c.*455C>T single nucleotide variant Isolated microphthalmia 2 [RCV000364917]|Microphthalmia, isolated, with coloboma 3 [RCV000307443]|not provided [RCV001690043] Chr14:74261374 [GRCh38]
Chr14:74728077 [GRCh37]
Chr14:14q24.3
benign|likely benign
NM_182894.3(VSX2):c.714G>A (p.Lys238=) single nucleotide variant Isolated microphthalmia 2 [RCV001087322]|Microphthalmia [RCV001275443]|not provided [RCV000394016] Chr14:74259736 [GRCh38]
Chr14:74726439 [GRCh37]
Chr14:14q24.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_182894.3(VSX2):c.*54G>A single nucleotide variant Isolated microphthalmia 2 [RCV000335074]|Microphthalmia, isolated, with coloboma 3 [RCV000406172]|not provided [RCV001597072] Chr14:74260973 [GRCh38]
Chr14:74727676 [GRCh37]
Chr14:14q24.3
likely benign|uncertain significance
NM_182894.3(VSX2):c.*261G>T single nucleotide variant Isolated microphthalmia 2 [RCV000396750]|Microphthalmia, isolated, with coloboma 3 [RCV000361050]|not provided [RCV001556963] Chr14:74261180 [GRCh38]
Chr14:74727883 [GRCh37]
Chr14:14q24.3
likely benign|uncertain significance
NM_182894.3(VSX2):c.*1074C>T single nucleotide variant Isolated microphthalmia 2 [RCV000340696]|Microphthalmia, isolated, with coloboma 3 [RCV000403192]|not provided [RCV001597073] Chr14:74261993 [GRCh38]
Chr14:74728696 [GRCh37]
Chr14:14q24.3
benign|likely benign
NM_182894.3(VSX2):c.456-165G>C single nucleotide variant not provided [RCV001571854] Chr14:74245000 [GRCh38]
Chr14:74711703 [GRCh37]
Chr14:14q24.3
likely benign
NM_182894.3(VSX2):c.93G>A (p.Gly31=) single nucleotide variant Isolated microphthalmia 2 [RCV000555435] Chr14:74239654 [GRCh38]
Chr14:74706357 [GRCh37]
Chr14:14q24.3
likely benign
NM_182894.3(VSX2):c.862C>T (p.Arg288Trp) single nucleotide variant Isolated microphthalmia 2 [RCV002504392]|Isolated microphthalmia 2 [RCV002542873]|Microphthalmia [RCV001277624] Chr14:74260695 [GRCh38]
Chr14:74727398 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_182894.3(VSX2):c.*8C>T single nucleotide variant Microphthalmia [RCV001278147] Chr14:74260927 [GRCh38]
Chr14:74727630 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_182894.3(VSX2):c.*1447C>G single nucleotide variant Isolated microphthalmia 2 [RCV000329415]|Microphthalmia, isolated, with coloboma 3 [RCV000384103] Chr14:74262366 [GRCh38]
Chr14:74729069 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_182894.3(VSX2):c.533G>A (p.Arg178Gln) single nucleotide variant Isolated microphthalmia 2 [RCV000314806]|Microphthalmia, isolated, with coloboma 3 [RCV000354772] Chr14:74245242 [GRCh38]
Chr14:74711945 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_182894.3(VSX2):c.-68G>C single nucleotide variant Isolated microphthalmia 2 [RCV000374133]|Microphthalmia, isolated, with coloboma 3 [RCV000317090] Chr14:74239494 [GRCh38]
Chr14:74706197 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_182894.3(VSX2):c.*775A>G single nucleotide variant Isolated microphthalmia 2 [RCV000333419]|Microphthalmia, isolated, with coloboma 3 [RCV000371788] Chr14:74261694 [GRCh38]
Chr14:74728397 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_182894.3(VSX2):c.-43dup duplication Isolated microphthalmia 6 [RCV000285124]|VSX2-related Microphthalmia [RCV000403381] Chr14:74239513..74239514 [GRCh38]
Chr14:74706216..74706217 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_182894.3(VSX2):c.*1753C>T single nucleotide variant Isolated microphthalmia 2 [RCV000394653]|Microphthalmia, isolated, with coloboma 3 [RCV000352460] Chr14:74262672 [GRCh38]
Chr14:74729375 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_182894.3(VSX2):c.*1521T>C single nucleotide variant Isolated microphthalmia 2 [RCV000380397]|Microphthalmia, isolated, with coloboma 3 [RCV000286194] Chr14:74262440 [GRCh38]
Chr14:74729143 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_182894.3(VSX2):c.306C>A (p.Ser102Arg) single nucleotide variant Isolated microphthalmia 2 [RCV000311268]|Microphthalmia, isolated, with coloboma 3 [RCV000394955] Chr14:74239867 [GRCh38]
Chr14:74706570 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_182894.3(VSX2):c.*1548_*1549del deletion Isolated microphthalmia 6 [RCV000341114]|VSX2-related Microphthalmia [RCV000376730] Chr14:74262464..74262465 [GRCh38]
Chr14:74729167..74729168 [GRCh37]
Chr14:14q24.3
likely benign
NM_182894.3(VSX2):c.162C>A (p.Asp54Glu) single nucleotide variant Isolated microphthalmia 2 [RCV000553919]|Microphthalmia [RCV001277210]|Microphthalmia, isolated, with coloboma 3 [RCV001116467] Chr14:74239723 [GRCh38]
Chr14:74706426 [GRCh37]
Chr14:14q24.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_182894.3(VSX2):c.*1757A>T single nucleotide variant Isolated microphthalmia 2 [RCV000367064]|Microphthalmia, isolated, with coloboma 3 [RCV000312950] Chr14:74262676 [GRCh38]
Chr14:74729379 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_182894.3(VSX2):c.*13T>G single nucleotide variant Isolated microphthalmia 2 [RCV000327924]|Microphthalmia, isolated, with coloboma 3 [RCV000384758] Chr14:74260932 [GRCh38]
Chr14:74727635 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_182894.3(VSX2):c.175G>A (p.Gly59Arg) single nucleotide variant Isolated microphthalmia 2 [RCV000342420]|Microphthalmia, isolated, with coloboma 3 [RCV000394911] Chr14:74239736 [GRCh38]
Chr14:74706439 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_182894.3(VSX2):c.798G>A (p.Ser266=) single nucleotide variant Isolated microphthalmia 2 [RCV001086778]|not provided [RCV000593716] Chr14:74260631 [GRCh38]
Chr14:74727334 [GRCh37]
Chr14:14q24.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_182894.3(VSX2):c.504C>T (p.Asn168=) single nucleotide variant Isolated microphthalmia 2 [RCV000542654]|Microphthalmia, isolated, with coloboma 3 [RCV001121468] Chr14:74245213 [GRCh38]
Chr14:74711916 [GRCh37]
Chr14:14q24.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3 copy number gain See cases [RCV000446256] Chr14:19794561..107234280 [GRCh37]
Chr14:14q11.2-32.33
pathogenic
GRCh37/hg19 14q23.2-32.33(chr14:62493932-107285437)x3 copy number gain See cases [RCV000448557] Chr14:62493932..107285437 [GRCh37]
Chr14:14q23.2-32.33
pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437) copy number gain See cases [RCV000512041] Chr14:20511673..107285437 [GRCh37]
Chr14:14q11.2-32.33
pathogenic
NM_182894.3(VSX2):c.91G>A (p.Gly31Arg) single nucleotide variant not provided [RCV000498525] Chr14:74239652 [GRCh38]
Chr14:74706355 [GRCh37]
Chr14:14q24.3
likely pathogenic
GRCh37/hg19 14q24.3(chr14:74040231-76368547) copy number loss not provided [RCV000767572] Chr14:74040231..76368547 [GRCh37]
Chr14:14q24.3
likely pathogenic
NM_182894.3(VSX2):c.1013AGG[5] (p.Glu341dup) microsatellite Isolated microphthalmia 2 [RCV000644622]|Microphthalmia [RCV001277214]|not provided [RCV001672912] Chr14:74260844..74260845 [GRCh38]
Chr14:74727547..74727548 [GRCh37]
Chr14:14q24.3
benign
NM_182894.3(VSX2):c.226A>G (p.Met76Val) single nucleotide variant Inborn genetic diseases [RCV003243548] Chr14:74239787 [GRCh38]
Chr14:74706490 [GRCh37]
Chr14:14q24.3
uncertain significance
GRCh37/hg19 14q24.2-32.33(chr14:73750741-107285437)x3 copy number gain See cases [RCV000512497] Chr14:73750741..107285437 [GRCh37]
Chr14:14q24.2-32.33
pathogenic
NM_182894.3(VSX2):c.803G>A (p.Arg268Lys) single nucleotide variant Isolated microphthalmia 2 [RCV000644621] Chr14:74260636 [GRCh38]
Chr14:74727339 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_182894.3(VSX2):c.455G>A (p.Arg152Lys) single nucleotide variant Retinitis pigmentosa [RCV000678660] Chr14:74241266 [GRCh38]
Chr14:74707969 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_182894.3(VSX2):c.609G>A (p.Trp203Ter) single nucleotide variant Retinitis pigmentosa [RCV000678661] Chr14:74259631 [GRCh38]
Chr14:74726334 [GRCh37]
Chr14:14q24.3
pathogenic
GRCh37/hg19 14q24.3(chr14:74219440-74883692)x3 copy number gain not provided [RCV000683615] Chr14:74219440..74883692 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_182894.3(VSX2):c.1013AGG[3] (p.Glu341del) microsatellite Isolated microphthalmia 2 [RCV000696969] Chr14:74260845..74260847 [GRCh38]
Chr14:74727548..74727550 [GRCh37]
Chr14:14q24.3
uncertain significance
GRCh37/hg19 14q11.1-32.33(chr14:19000422-107289053)x3 copy number gain not provided [RCV000738412] Chr14:19000422..107289053 [GRCh37]
Chr14:14q11.1-32.33
pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:19280733-107287663)x3 copy number gain not provided [RCV000738413] Chr14:19280733..107287663 [GRCh37]
Chr14:14q11.2-32.33
pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:19327823-107287663)x3 copy number gain not provided [RCV000738414] Chr14:19327823..107287663 [GRCh37]
Chr14:14q11.2-32.33
pathogenic
NM_182894.3(VSX2):c.456-244_456-243insAAA insertion not provided [RCV001571124] Chr14:74244921..74244922 [GRCh38]
Chr14:74711624..74711625 [GRCh37]
Chr14:14q24.3
likely benign
NM_182894.3(VSX2):c.456-163G>C single nucleotide variant not provided [RCV001534898] Chr14:74245002 [GRCh38]
Chr14:74711705 [GRCh37]
Chr14:14q24.3
benign
NM_182894.3(VSX2):c.371-99G>A single nucleotide variant not provided [RCV001567038] Chr14:74241083 [GRCh38]
Chr14:74707786 [GRCh37]
Chr14:14q24.3
likely benign
NM_182894.3(VSX2):c.171C>G (p.Ala57=) single nucleotide variant Isolated microphthalmia 2 [RCV000877246]|Microphthalmia [RCV001275438]|Microphthalmia, isolated, with coloboma 3 [RCV001116468] Chr14:74239732 [GRCh38]
Chr14:74706435 [GRCh37]
Chr14:14q24.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_182894.3(VSX2):c.858C>T (p.Asp286=) single nucleotide variant Isolated microphthalmia 2 [RCV000937687]|Microphthalmia [RCV001275946] Chr14:74260691 [GRCh38]
Chr14:74727394 [GRCh37]
Chr14:14q24.3
likely benign|uncertain significance
NM_182894.3(VSX2):c.90T>C (p.Thr30=) single nucleotide variant not provided [RCV000981060] Chr14:74239651 [GRCh38]
Chr14:74706354 [GRCh37]
Chr14:14q24.3
likely benign
NM_182894.3(VSX2):c.1014G>A (p.Glu338=) single nucleotide variant Isolated microphthalmia 2 [RCV001475503] Chr14:74260847 [GRCh38]
Chr14:74727550 [GRCh37]
Chr14:14q24.3
likely benign
NM_182894.3(VSX2):c.249G>A (p.Gly83=) single nucleotide variant Isolated microphthalmia 2 [RCV000877147]|Microphthalmia [RCV001275439]|Microphthalmia, isolated, with coloboma 3 [RCV001117920] Chr14:74239810 [GRCh38]
Chr14:74706513 [GRCh37]
Chr14:14q24.3
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_182894.3(VSX2):c.72C>T (p.Gly24=) single nucleotide variant Isolated microphthalmia 2 [RCV000900029] Chr14:74239633 [GRCh38]
Chr14:74706336 [GRCh37]
Chr14:14q24.3
likely benign
NM_182894.3(VSX2):c.267del (p.Gln90fs) deletion Isolated microphthalmia 2 [RCV001052936] Chr14:74239828 [GRCh38]
Chr14:74706531 [GRCh37]
Chr14:14q24.3
pathogenic
NM_182894.3(VSX2):c.308T>C (p.Val103Ala) single nucleotide variant Isolated microphthalmia 2 [RCV000970596] Chr14:74239869 [GRCh38]
Chr14:74706572 [GRCh37]
Chr14:14q24.3
likely benign
NM_182894.3(VSX2):c.1046C>T (p.Ala349Val) single nucleotide variant Isolated microphthalmia 2 [RCV000876336]|Microphthalmia [RCV001275949] Chr14:74260879 [GRCh38]
Chr14:74727582 [GRCh37]
Chr14:14q24.3
likely benign|uncertain significance
NM_182894.3(VSX2):c.210C>A (p.Pro70=) single nucleotide variant Isolated microphthalmia 2 [RCV000979052] Chr14:74239771 [GRCh38]
Chr14:74706474 [GRCh37]
Chr14:14q24.3
likely benign
NM_182894.3(VSX2):c.276C>A (p.Thr92=) single nucleotide variant Isolated microphthalmia 2 [RCV001418957] Chr14:74239837 [GRCh38]
Chr14:74706540 [GRCh37]
Chr14:14q24.3
likely benign
NM_182894.3(VSX2):c.1065G>A (p.Pro355=) single nucleotide variant Isolated microphthalmia 2 [RCV000920163]|Microphthalmia [RCV001275950] Chr14:74260898 [GRCh38]
Chr14:74727601 [GRCh37]
Chr14:14q24.3
likely benign|uncertain significance
NM_182894.3(VSX2):c.651G>A (p.Ala217=) single nucleotide variant Isolated microphthalmia 2 [RCV000920161]|Microphthalmia [RCV001275442] Chr14:74259673 [GRCh38]
Chr14:74726376 [GRCh37]
Chr14:14q24.3
likely benign|uncertain significance
NM_182894.3(VSX2):c.351C>T (p.Thr117=) single nucleotide variant Isolated microphthalmia 2 [RCV001418474] Chr14:74239912 [GRCh38]
Chr14:74706615 [GRCh37]
Chr14:14q24.3
likely benign
NM_182894.3(VSX2):c.699C>T (p.Pro233=) single nucleotide variant Isolated microphthalmia 2 [RCV000876079]|Microphthalmia, isolated, with coloboma 3 [RCV001116576] Chr14:74259721 [GRCh38]
Chr14:74726424 [GRCh37]
Chr14:14q24.3
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_182894.3(VSX2):c.638G>A (p.Ser213Asn) single nucleotide variant Isolated microphthalmia 2 [RCV000817859]|Microphthalmia [RCV001830794] Chr14:74259660 [GRCh38]
Chr14:74726363 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_182894.3(VSX2):c.564G>A (p.Pro188=) single nucleotide variant Isolated microphthalmia 2 [RCV000914221]|Microphthalmia [RCV001275441]|Microphthalmia, isolated, with coloboma 3 [RCV001116573] Chr14:74245273 [GRCh38]
Chr14:74711976 [GRCh37]
Chr14:14q24.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_182894.3(VSX2):c.760+74C>G single nucleotide variant not provided [RCV000834535] Chr14:74259856 [GRCh38]
Chr14:74726559 [GRCh37]
Chr14:14q24.3
likely benign
NM_182894.3(VSX2):c.*962G>T single nucleotide variant Isolated microphthalmia 2 [RCV001118237]|Microphthalmia, isolated, with coloboma 3 [RCV001118236] Chr14:74261881 [GRCh38]
Chr14:74728584 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_182894.3(VSX2):c.*1537G>A single nucleotide variant Isolated microphthalmia 2 [RCV001115196]|Microphthalmia, isolated, with coloboma 3 [RCV001115197] Chr14:74262456 [GRCh38]
Chr14:74729159 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_182894.3(VSX2):c.-46G>C single nucleotide variant Isolated microphthalmia 2 [RCV001116466]|Microphthalmia, isolated, with coloboma 3 [RCV001116465] Chr14:74239516 [GRCh38]
Chr14:74706219 [GRCh37]
Chr14:14q24.3
likely benign
NM_182894.3(VSX2):c.370+3A>G single nucleotide variant Isolated microphthalmia 2 [RCV001119466]|Microphthalmia, isolated, with coloboma 3 [RCV001119465] Chr14:74239934 [GRCh38]
Chr14:74706637 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_182894.3(VSX2):c.*782C>A single nucleotide variant Isolated microphthalmia 2 [RCV001116785]|Microphthalmia, isolated, with coloboma 3 [RCV001116786] Chr14:74261701 [GRCh38]
Chr14:74728404 [GRCh37]
Chr14:14q24.3
uncertain significance
NC_000014.8:g.(?_74111723)_(74727642_?)dup duplication Primary ciliary dyskinesia 16 [RCV000812680] Chr14:73645020..74260939 [GRCh38]
Chr14:74111723..74727642 [GRCh37]
Chr14:14q24.3
uncertain significance
NC_000014.9:g.(?_74239552)_(74245298_?)del deletion Isolated microphthalmia 2 [RCV000799426] Chr14:74239552..74245298 [GRCh38]
Chr14:74706255..74712001 [GRCh37]
Chr14:14q24.3
pathogenic
NM_182894.3(VSX2):c.570C>T (p.Asp190=) single nucleotide variant Isolated microphthalmia 2 [RCV001498495] Chr14:74245279 [GRCh38]
Chr14:74711982 [GRCh37]
Chr14:14q24.3
likely benign
NM_182894.3(VSX2):c.78G>A (p.Pro26=) single nucleotide variant Isolated microphthalmia 2 [RCV001501058] Chr14:74239639 [GRCh38]
Chr14:74706342 [GRCh37]
Chr14:14q24.3
likely benign
NM_182894.3(VSX2):c.210del (p.Ala71fs) deletion Isolated microphthalmia 2 [RCV001206613] Chr14:74239768 [GRCh38]
Chr14:74706471 [GRCh37]
Chr14:14q24.3
pathogenic
NM_182894.3(VSX2):c.539T>C (p.Met180Thr) single nucleotide variant Isolated microphthalmia 2 [RCV001242286]|Microphthalmia [RCV001835124] Chr14:74245248 [GRCh38]
Chr14:74711951 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_182894.3(VSX2):c.*250C>G single nucleotide variant Isolated microphthalmia 2 [RCV001118132]|Microphthalmia, isolated, with coloboma 3 [RCV001118131] Chr14:74261169 [GRCh38]
Chr14:74727872 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_182894.3(VSX2):c.*1073G>A single nucleotide variant Isolated microphthalmia 2 [RCV001118238]|Microphthalmia, isolated, with coloboma 3 [RCV001118239] Chr14:74261992 [GRCh38]
Chr14:74728695 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_182894.3(VSX2):c.456-283GT[23] microsatellite not provided [RCV001641464] Chr14:74244882..74244883 [GRCh38]
Chr14:74711585..74711586 [GRCh37]
Chr14:14q24.3
benign
NM_182894.3(VSX2):c.649G>C (p.Ala217Pro) single nucleotide variant Isolated microphthalmia 2 [RCV001116575]|Microphthalmia, isolated, with coloboma 3 [RCV001116574] Chr14:74259671 [GRCh38]
Chr14:74726374 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_182894.3(VSX2):c.456-219GT[14] microsatellite not provided [RCV001689416] Chr14:74244946..74244953 [GRCh38]
Chr14:74711649..74711656 [GRCh37]
Chr14:14q24.3
benign
NM_182894.3(VSX2):c.456-233A>C single nucleotide variant not provided [RCV001569453] Chr14:74244932 [GRCh38]
Chr14:74711635 [GRCh37]
Chr14:14q24.3
likely benign
NM_182894.3(VSX2):c.456-161G>C single nucleotide variant not provided [RCV001547983] Chr14:74245004 [GRCh38]
Chr14:74711707 [GRCh37]
Chr14:14q24.3
likely benign
NM_182894.3(VSX2):c.580-45A>C single nucleotide variant not provided [RCV001548130] Chr14:74259557 [GRCh38]
Chr14:74726260 [GRCh37]
Chr14:14q24.3
likely benign
NM_182894.3(VSX2):c.456-283GT[20] microsatellite not provided [RCV001635730] Chr14:74244882..74244889 [GRCh38]
Chr14:74711585..74711592 [GRCh37]
Chr14:14q24.3
benign
NM_182894.3(VSX2):c.456-219GT[17] microsatellite not provided [RCV001667924] Chr14:74244946..74244947 [GRCh38]
Chr14:74711649..74711650 [GRCh37]
Chr14:14q24.3
benign
NM_182894.3(VSX2):c.456-219GT[10] microsatellite not provided [RCV001560543] Chr14:74244946..74244961 [GRCh38]
Chr14:74711649..74711664 [GRCh37]
Chr14:14q24.3
likely benign
NM_182894.3(VSX2):c.760+86G>A single nucleotide variant not provided [RCV001615522] Chr14:74259868 [GRCh38]
Chr14:74726571 [GRCh37]
Chr14:14q24.3
benign
NM_182894.3(VSX2):c.456-283GT[22] microsatellite not provided [RCV001695347] Chr14:74244882..74244885 [GRCh38]
Chr14:74711585..74711588 [GRCh37]
Chr14:14q24.3
benign
NM_182894.3(VSX2):c.456-212T>A single nucleotide variant not provided [RCV001560966] Chr14:74244953 [GRCh38]
Chr14:74711656 [GRCh37]
Chr14:14q24.3
likely benign
NM_182894.3(VSX2):c.456-183GA[12] microsatellite not provided [RCV001639147] Chr14:74244982..74244983 [GRCh38]
Chr14:74711685..74711686 [GRCh37]
Chr14:14q24.3
benign
NM_182894.3(VSX2):c.456-186_456-181del deletion not provided [RCV001546554] Chr14:74244978..74244983 [GRCh38]
Chr14:74711681..74711686 [GRCh37]
Chr14:14q24.3
likely benign
NM_182894.3(VSX2):c.105G>A (p.Gln35=) single nucleotide variant Isolated microphthalmia 2 [RCV001416156] Chr14:74239666 [GRCh38]
Chr14:74706369 [GRCh37]
Chr14:14q24.3
likely benign
NM_182894.3(VSX2):c.117C>T (p.Gly39=) single nucleotide variant Isolated microphthalmia 2 [RCV001395429] Chr14:74239678 [GRCh38]
Chr14:74706381 [GRCh37]
Chr14:14q24.3
likely benign
NM_182894.3(VSX2):c.1002C>T (p.Thr334=) single nucleotide variant Isolated microphthalmia 2 [RCV000930236]|Microphthalmia [RCV001275948] Chr14:74260835 [GRCh38]
Chr14:74727538 [GRCh37]
Chr14:14q24.3
likely benign
NM_182894.3(VSX2):c.411A>G (p.Lys137=) single nucleotide variant Isolated microphthalmia 2 [RCV000942611] Chr14:74241222 [GRCh38]
Chr14:74707925 [GRCh37]
Chr14:14q24.3
likely benign
NM_182894.3(VSX2):c.1047G>A (p.Ala349=) single nucleotide variant Isolated microphthalmia 2 [RCV000877016] Chr14:74260880 [GRCh38]
Chr14:74727583 [GRCh37]
Chr14:14q24.3
likely benign
NM_182894.3(VSX2):c.*10C>T single nucleotide variant Isolated microphthalmia 2 [RCV001121564]|Microphthalmia, isolated, with coloboma 3 [RCV001121563] Chr14:74260929 [GRCh38]
Chr14:74727632 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_182894.3(VSX2):c.456-214T>A single nucleotide variant not provided [RCV001563306] Chr14:74244951 [GRCh38]
Chr14:74711654 [GRCh37]
Chr14:14q24.3
likely benign
NM_182894.3(VSX2):c.456-219GT[16] microsatellite not provided [RCV001570646] Chr14:74244946..74244949 [GRCh38]
Chr14:74711649..74711652 [GRCh37]
Chr14:14q24.3
likely benign
NM_182894.3(VSX2):c.456-188_456-177del deletion not provided [RCV001578174] Chr14:74244976..74244987 [GRCh38]
Chr14:74711679..74711690 [GRCh37]
Chr14:14q24.3
likely benign
NM_182894.3(VSX2):c.455+216C>T single nucleotide variant not provided [RCV001677734] Chr14:74241482 [GRCh38]
Chr14:74708185 [GRCh37]
Chr14:14q24.3
benign
NM_182894.3(VSX2):c.456-283GT[15] microsatellite not provided [RCV001594212] Chr14:74244882..74244899 [GRCh38]
Chr14:74711585..74711602 [GRCh37]
Chr14:14q24.3
likely benign
NM_182894.3(VSX2):c.456-157_456-154del deletion not provided [RCV001561364] Chr14:74245005..74245008 [GRCh38]
Chr14:74711708..74711711 [GRCh37]
Chr14:14q24.3
likely benign
NM_182894.3(VSX2):c.456-183GA[14] microsatellite not provided [RCV001659066] Chr14:74244981..74244982 [GRCh38]
Chr14:74711684..74711685 [GRCh37]
Chr14:14q24.3
likely benign
NM_182894.3(VSX2):c.760+225A>G single nucleotide variant not provided [RCV001660897] Chr14:74260007 [GRCh38]
Chr14:74726710 [GRCh37]
Chr14:14q24.3
benign
NM_182894.3(VSX2):c.456-140_456-139insCA insertion not provided [RCV001639184] Chr14:74245024..74245025 [GRCh38]
Chr14:74711727..74711728 [GRCh37]
Chr14:14q24.3
benign
NM_182894.3(VSX2):c.456-157C>G single nucleotide variant not provided [RCV001676397] Chr14:74245008 [GRCh38]
Chr14:74711711 [GRCh37]
Chr14:14q24.3
benign
NM_182894.3(VSX2):c.456-221A>G single nucleotide variant not provided [RCV001640828] Chr14:74244944 [GRCh38]
Chr14:74711647 [GRCh37]
Chr14:14q24.3
benign
NM_182894.3(VSX2):c.579+276G>A single nucleotide variant not provided [RCV001649987] Chr14:74245564 [GRCh38]
Chr14:74712267 [GRCh37]
Chr14:14q24.3
benign
NM_182894.3(VSX2):c.456-162_456-161insCA insertion not provided [RCV001674001] Chr14:74245002..74245003 [GRCh38]
Chr14:74711705..74711706 [GRCh37]
Chr14:14q24.3
benign
NM_182894.3(VSX2):c.456-219GT[15] microsatellite not provided [RCV001676697] Chr14:74244946..74244951 [GRCh38]
Chr14:74711649..74711654 [GRCh37]
Chr14:14q24.3
benign
NM_182894.3(VSX2):c.456-283GT[21] microsatellite not provided [RCV001635825] Chr14:74244882..74244887 [GRCh38]
Chr14:74711585..74711590 [GRCh37]
Chr14:14q24.3
benign
NM_182894.3(VSX2):c.456-190_456-177del deletion not provided [RCV001588248] Chr14:74244974..74244987 [GRCh38]
Chr14:74711677..74711690 [GRCh37]
Chr14:14q24.3
likely benign
NM_182894.3(VSX2):c.760+149C>T single nucleotide variant not provided [RCV001710396] Chr14:74259931 [GRCh38]
Chr14:74726634 [GRCh37]
Chr14:14q24.3
benign
NM_182894.3(VSX2):c.*1718T>C single nucleotide variant Isolated microphthalmia 2 [RCV001118341]|Microphthalmia, isolated, with coloboma 3 [RCV001118342] Chr14:74262637 [GRCh38]
Chr14:74729340 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_182894.3(VSX2):c.371-14C>T single nucleotide variant Isolated microphthalmia 2 [RCV001119467]|Microphthalmia, isolated, with coloboma 3 [RCV001119468] Chr14:74241168 [GRCh38]
Chr14:74707871 [GRCh37]
Chr14:14q24.3
conflicting interpretations of pathogenicity|uncertain significance
NM_182894.3(VSX2):c.*430C>T single nucleotide variant Isolated microphthalmia 2 [RCV001119671]|Microphthalmia, isolated, with coloboma 3 [RCV001119670] Chr14:74261349 [GRCh38]
Chr14:74728052 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_182894.3(VSX2):c.*1252C>T single nucleotide variant Isolated microphthalmia 2 [RCV001119778]|Microphthalmia, isolated, with coloboma 3 [RCV001119779]|not provided [RCV002285445] Chr14:74262171 [GRCh38]
Chr14:74728874 [GRCh37]
Chr14:14q24.3
likely benign|uncertain significance
NM_182894.3(VSX2):c.*1396C>T single nucleotide variant Isolated microphthalmia 2 [RCV001121758]|Microphthalmia, isolated, with coloboma 3 [RCV001121759] Chr14:74262315 [GRCh38]
Chr14:74729018 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_182894.3(VSX2):c.*602T>G single nucleotide variant Isolated microphthalmia 2 [RCV001121659]|Microphthalmia, isolated, with coloboma 3 [RCV001121658] Chr14:74261521 [GRCh38]
Chr14:74728224 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_182894.3(VSX2):c.456-246_456-173del deletion not provided [RCV001590250] Chr14:74244918..74244991 [GRCh38]
Chr14:74711621..74711694 [GRCh37]
Chr14:14q24.3
likely benign
NM_182894.3(VSX2):c.760+209A>C single nucleotide variant not provided [RCV001615000] Chr14:74259991 [GRCh38]
Chr14:74726694 [GRCh37]
Chr14:14q24.3
benign
NM_182894.3(VSX2):c.456-190_456-181del deletion not provided [RCV001615004] Chr14:74244974..74244983 [GRCh38]
Chr14:74711677..74711686 [GRCh37]
Chr14:14q24.3
benign
NM_182894.3(VSX2):c.456-184T>A single nucleotide variant not provided [RCV001647929] Chr14:74244981 [GRCh38]
Chr14:74711684 [GRCh37]
Chr14:14q24.3
benign
NM_182894.3(VSX2):c.456-157_456-156del deletion not provided [RCV001710860] Chr14:74245007..74245008 [GRCh38]
Chr14:74711710..74711711 [GRCh37]
Chr14:14q24.3
benign
NM_182894.3(VSX2):c.456-246T>A single nucleotide variant not provided [RCV001546331] Chr14:74244919 [GRCh38]
Chr14:74711622 [GRCh37]
Chr14:14q24.3
likely benign
NM_182894.3(VSX2):c.456-233A>G single nucleotide variant not provided [RCV001641096] Chr14:74244932 [GRCh38]
Chr14:74711635 [GRCh37]
Chr14:14q24.3
benign
NM_182894.3(VSX2):c.370+301G>A single nucleotide variant not provided [RCV001586161] Chr14:74240232 [GRCh38]
Chr14:74706935 [GRCh37]
Chr14:14q24.3
likely benign
NM_182894.3(VSX2):c.580-44G>A single nucleotide variant not provided [RCV001546947] Chr14:74259558 [GRCh38]
Chr14:74726261 [GRCh37]
Chr14:14q24.3
likely benign
NM_182894.3(VSX2):c.456-218T>A single nucleotide variant not provided [RCV001574720] Chr14:74244947 [GRCh38]
Chr14:74711650 [GRCh37]
Chr14:14q24.3
likely benign
NM_182894.3(VSX2):c.*641C>T single nucleotide variant Isolated microphthalmia 2 [RCV001116783]|Microphthalmia, isolated, with coloboma 3 [RCV001116784] Chr14:74261560 [GRCh38]
Chr14:74728263 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_182894.3(VSX2):c.1025C>T (p.Ala342Val) single nucleotide variant Isolated microphthalmia 2 [RCV001247142]|Microphthalmia [RCV001278146] Chr14:74260858 [GRCh38]
Chr14:74727561 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_182894.3(VSX2):c.760+11G>A single nucleotide variant Isolated microphthalmia 2 [RCV001118026]|Microphthalmia, isolated, with coloboma 3 [RCV001118025] Chr14:74259793 [GRCh38]
Chr14:74726496 [GRCh37]
Chr14:14q24.3
conflicting interpretations of pathogenicity|uncertain significance
NM_182894.3(VSX2):c.*70C>T single nucleotide variant Isolated microphthalmia 2 [RCV001118127]|Microphthalmia, isolated, with coloboma 3 [RCV001118128] Chr14:74260989 [GRCh38]
Chr14:74727692 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_182894.3(VSX2):c.*150G>C single nucleotide variant Isolated microphthalmia 2 [RCV001118129]|Microphthalmia, isolated, with coloboma 3 [RCV001118130] Chr14:74261069 [GRCh38]
Chr14:74727772 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_182894.3(VSX2):c.*1640T>C single nucleotide variant Isolated microphthalmia 2 [RCV001118340]|Microphthalmia, isolated, with coloboma 3 [RCV001118339] Chr14:74262559 [GRCh38]
Chr14:74729262 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_182894.3(VSX2):c.455+3G>T single nucleotide variant Isolated microphthalmia 2 [RCV001119470]|Microphthalmia, isolated, with coloboma 3 [RCV001119469] Chr14:74241269 [GRCh38]
Chr14:74707972 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_182894.3(VSX2):c.*291A>T single nucleotide variant Isolated microphthalmia 2 [RCV001119669]|Microphthalmia, isolated, with coloboma 3 [RCV001119668]|not provided [RCV001546598] Chr14:74261210 [GRCh38]
Chr14:74727913 [GRCh37]
Chr14:14q24.3
likely benign|uncertain significance
NM_182894.3(VSX2):c.505G>A (p.Glu169Lys) single nucleotide variant Isolated microphthalmia 2 [RCV001121469]|Microphthalmia, isolated, with coloboma 3 [RCV001121470]|not provided [RCV001358316] Chr14:74245214 [GRCh38]
Chr14:74711917 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_182894.3(VSX2):c.*590C>T single nucleotide variant Isolated microphthalmia 2 [RCV001121657]|Microphthalmia, isolated, with coloboma 3 [RCV001121656] Chr14:74261509 [GRCh38]
Chr14:74728212 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_182894.3(VSX2):c.397C>T (p.Arg133Ter) single nucleotide variant Isolated microphthalmia 2 [RCV001201789] Chr14:74241208 [GRCh38]
Chr14:74707911 [GRCh37]
Chr14:14q24.3
pathogenic
NM_182894.3(VSX2):c.421A>T (p.Asn141Tyr) single nucleotide variant Isolated microphthalmia 2 [RCV001034815]|Microphthalmia [RCV001832367] Chr14:74241232 [GRCh38]
Chr14:74707935 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_182894.3(VSX2):c.173C>A (p.Pro58His) single nucleotide variant Microphthalmia [RCV001277621] Chr14:74239734 [GRCh38]
Chr14:74706437 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_182894.3(VSX2):c.294C>G (p.Ser98=) single nucleotide variant Isolated microphthalmia 2 [RCV001392520] Chr14:74239855 [GRCh38]
Chr14:74706558 [GRCh37]
Chr14:14q24.3
likely benign
NM_182894.3(VSX2):c.135G>A (p.Pro45=) single nucleotide variant Isolated microphthalmia 2 [RCV001396742] Chr14:74239696 [GRCh38]
Chr14:74706399 [GRCh37]
Chr14:14q24.3
likely benign
NM_182894.3(VSX2):c.470C>T (p.Ser157Phe) single nucleotide variant Microphthalmia [RCV001277622] Chr14:74245179 [GRCh38]
Chr14:74711882 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_182894.3(VSX2):c.456-244T>A single nucleotide variant not provided [RCV001538256] Chr14:74244921 [GRCh38]
Chr14:74711624 [GRCh37]
Chr14:14q24.3
likely benign
NM_182894.3(VSX2):c.552A>G (p.Lys184=) single nucleotide variant Isolated microphthalmia 2 [RCV001396452] Chr14:74245261 [GRCh38]
Chr14:74711964 [GRCh37]
Chr14:14q24.3
likely benign
NM_182894.3(VSX2):c.760+7G>A single nucleotide variant Isolated microphthalmia 2 [RCV001423154] Chr14:74259789 [GRCh38]
Chr14:74726492 [GRCh37]
Chr14:14q24.3
likely benign
NM_182894.3(VSX2):c.579+9C>A single nucleotide variant Isolated microphthalmia 2 [RCV001423167] Chr14:74245297 [GRCh38]
Chr14:74712000 [GRCh37]
Chr14:14q24.3
likely benign
NM_182894.3(VSX2):c.859G>C (p.Glu287Gln) single nucleotide variant Microphthalmia [RCV001277623] Chr14:74260692 [GRCh38]
Chr14:74727395 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_182894.3(VSX2):c.598C>T (p.Arg200Ter) single nucleotide variant Isolated microphthalmia 2 [RCV001915878] Chr14:74259620 [GRCh38]
Chr14:74726323 [GRCh37]
Chr14:14q24.3
pathogenic
NM_182894.3(VSX2):c.757C>T (p.Leu253=) single nucleotide variant Isolated microphthalmia 2 [RCV001395048] Chr14:74259779 [GRCh38]
Chr14:74726482 [GRCh37]
Chr14:14q24.3
likely benign
NM_182894.3(VSX2):c.396T>C (p.Asp132=) single nucleotide variant Isolated microphthalmia 2 [RCV001421558] Chr14:74241207 [GRCh38]
Chr14:74707910 [GRCh37]
Chr14:14q24.3
likely benign
NM_182894.3(VSX2):c.327C>T (p.Gly109=) single nucleotide variant Isolated microphthalmia 2 [RCV001474961] Chr14:74239888 [GRCh38]
Chr14:74706591 [GRCh37]
Chr14:14q24.3
likely benign
NM_182894.3(VSX2):c.132C>G (p.Pro44=) single nucleotide variant Isolated microphthalmia 2 [RCV001404491] Chr14:74239693 [GRCh38]
Chr14:74706396 [GRCh37]
Chr14:14q24.3
likely benign
NM_182894.3(VSX2):c.1056C>T (p.Leu352=) single nucleotide variant Isolated microphthalmia 2 [RCV001465012] Chr14:74260889 [GRCh38]
Chr14:74727592 [GRCh37]
Chr14:14q24.3
likely benign
NM_182894.3(VSX2):c.6G>A (p.Thr2=) single nucleotide variant Isolated microphthalmia 2 [RCV001490516] Chr14:74239567 [GRCh38]
Chr14:74706270 [GRCh37]
Chr14:14q24.3
likely benign
NM_182894.3(VSX2):c.78G>T (p.Pro26=) single nucleotide variant Isolated microphthalmia 2 [RCV001492320] Chr14:74239639 [GRCh38]
Chr14:74706342 [GRCh37]
Chr14:14q24.3
likely benign
NM_182894.3(VSX2):c.618G>A (p.Arg206=) single nucleotide variant Isolated microphthalmia 2 [RCV001454831] Chr14:74259640 [GRCh38]
Chr14:74726343 [GRCh37]
Chr14:14q24.3
likely benign
NM_182894.3(VSX2):c.972G>T (p.Val324=) single nucleotide variant Isolated microphthalmia 2 [RCV001475253] Chr14:74260805 [GRCh38]
Chr14:74727508 [GRCh37]
Chr14:14q24.3
likely benign
NM_182894.3(VSX2):c.455+10C>T single nucleotide variant Isolated microphthalmia 2 [RCV001499935] Chr14:74241276 [GRCh38]
Chr14:74707979 [GRCh37]
Chr14:14q24.3
likely benign
NM_182894.3(VSX2):c.448C>A (p.Arg150=) single nucleotide variant Isolated microphthalmia 2 [RCV001458775] Chr14:74241259 [GRCh38]
Chr14:74707962 [GRCh37]
Chr14:14q24.3
likely benign
NM_182894.3(VSX2):c.669G>A (p.Gly223=) single nucleotide variant Isolated microphthalmia 2 [RCV001476170] Chr14:74259691 [GRCh38]
Chr14:74726394 [GRCh37]
Chr14:14q24.3
likely benign
NM_182894.3(VSX2):c.204C>G (p.Leu68=) single nucleotide variant Isolated microphthalmia 2 [RCV001451640] Chr14:74239765 [GRCh38]
Chr14:74706468 [GRCh37]
Chr14:14q24.3
likely benign
NM_182894.3(VSX2):c.455+8C>T single nucleotide variant Isolated microphthalmia 2 [RCV001454426] Chr14:74241274 [GRCh38]
Chr14:74707977 [GRCh37]
Chr14:14q24.3
likely benign
NM_182894.3(VSX2):c.564G>T (p.Pro188=) single nucleotide variant Isolated microphthalmia 2 [RCV001451798] Chr14:74245273 [GRCh38]
Chr14:74711976 [GRCh37]
Chr14:14q24.3
likely benign
NM_182894.3(VSX2):c.360G>A (p.Thr120=) single nucleotide variant Isolated microphthalmia 2 [RCV001431137] Chr14:74239921 [GRCh38]
Chr14:74706624 [GRCh37]
Chr14:14q24.3
likely benign
NM_182894.3(VSX2):c.213G>C (p.Ala71=) single nucleotide variant Isolated microphthalmia 2 [RCV001471638] Chr14:74239774 [GRCh38]
Chr14:74706477 [GRCh37]
Chr14:14q24.3
likely benign
NM_182894.3(VSX2):c.531C>A (p.Ala177=) single nucleotide variant Isolated microphthalmia 2 [RCV001491530] Chr14:74245240 [GRCh38]
Chr14:74711943 [GRCh37]
Chr14:14q24.3
likely benign
NM_182894.3(VSX2):c.760+33dup duplication not provided [RCV001536423] Chr14:74259812..74259813 [GRCh38]
Chr14:74726515..74726516 [GRCh37]
Chr14:14q24.3
benign
NM_182894.3(VSX2):c.531C>T (p.Ala177=) single nucleotide variant Isolated microphthalmia 2 [RCV001499834] Chr14:74245240 [GRCh38]
Chr14:74711943 [GRCh37]
Chr14:14q24.3
likely benign
NM_182894.3(VSX2):c.455+175G>C single nucleotide variant not provided [RCV001538662] Chr14:74241441 [GRCh38]
Chr14:74708144 [GRCh37]
Chr14:14q24.3
benign
GRCh37/hg19 14q22.2-24.3(chr14:54654001-75828024)x3 copy number gain 14q22.2q24.3 duplication [RCV001506967] Chr14:54654001..75828024 [GRCh37]
Chr14:14q22.2-24.3
likely pathogenic
NM_182894.3(VSX2):c.948C>T (p.His316=) single nucleotide variant Isolated microphthalmia 2 [RCV001469551] Chr14:74260781 [GRCh38]
Chr14:74727484 [GRCh37]
Chr14:14q24.3
likely benign
NM_182894.3(VSX2):c.810C>T (p.Pro270=) single nucleotide variant Isolated microphthalmia 2 [RCV001439938] Chr14:74260643 [GRCh38]
Chr14:74727346 [GRCh37]
Chr14:14q24.3
likely benign
NM_182894.3(VSX2):c.792C>T (p.Ala264=) single nucleotide variant Isolated microphthalmia 2 [RCV001429260] Chr14:74260625 [GRCh38]
Chr14:74727328 [GRCh37]
Chr14:14q24.3
likely benign
NM_182894.3(VSX2):c.456-7C>T single nucleotide variant Isolated microphthalmia 2 [RCV001500833] Chr14:74245158 [GRCh38]
Chr14:74711861 [GRCh37]
Chr14:14q24.3
likely benign
NM_182894.3(VSX2):c.18G>A (p.Gly6=) single nucleotide variant Isolated microphthalmia 2 [RCV001460938] Chr14:74239579 [GRCh38]
Chr14:74706282 [GRCh37]
Chr14:14q24.3
likely benign
NM_182894.3(VSX2):c.1083T>A (p.Ala361=) single nucleotide variant Isolated microphthalmia 2 [RCV001504991] Chr14:74260916 [GRCh38]
Chr14:74727619 [GRCh37]
Chr14:14q24.3
likely benign
NM_182894.3(VSX2):c.906G>A (p.Arg302=) single nucleotide variant Isolated microphthalmia 2 [RCV001426976] Chr14:74260739 [GRCh38]
Chr14:74727442 [GRCh37]
Chr14:14q24.3
likely benign
NM_182894.3(VSX2):c.804G>A (p.Arg268=) single nucleotide variant Isolated microphthalmia 2 [RCV001437859] Chr14:74260637 [GRCh38]
Chr14:74727340 [GRCh37]
Chr14:14q24.3
likely benign
NM_182894.3(VSX2):c.580-7C>T single nucleotide variant Isolated microphthalmia 2 [RCV001506465] Chr14:74259595 [GRCh38]
Chr14:74726298 [GRCh37]
Chr14:14q24.3
likely benign
NM_182894.3(VSX2):c.231G>T (p.Gly77=) single nucleotide variant Isolated microphthalmia 2 [RCV001486293] Chr14:74239792 [GRCh38]
Chr14:74706495 [GRCh37]
Chr14:14q24.3
likely benign
NM_182894.3(VSX2):c.994C>A (p.Arg332=) single nucleotide variant Isolated microphthalmia 2 [RCV001456716] Chr14:74260827 [GRCh38]
Chr14:74727530 [GRCh37]
Chr14:14q24.3
likely benign
NM_182894.3(VSX2):c.267G>T (p.Thr89=) single nucleotide variant Isolated microphthalmia 2 [RCV001498924] Chr14:74239828 [GRCh38]
Chr14:74706531 [GRCh37]
Chr14:14q24.3
likely benign
NM_182894.3(VSX2):c.584G>A (p.Trp195Ter) single nucleotide variant Isolated microphthalmia 2 [RCV001384317] Chr14:74259606 [GRCh38]
Chr14:74726309 [GRCh37]
Chr14:14q24.3
pathogenic
NM_182894.3(VSX2):c.222C>A (p.Gly74=) single nucleotide variant Isolated microphthalmia 2 [RCV001448464] Chr14:74239783 [GRCh38]
Chr14:74706486 [GRCh37]
Chr14:14q24.3
likely benign
NM_182894.3(VSX2):c.603C>T (p.Ala201=) single nucleotide variant Isolated microphthalmia 2 [RCV001432619] Chr14:74259625 [GRCh38]
Chr14:74726328 [GRCh37]
Chr14:14q24.3
likely benign
NM_182894.3(VSX2):c.318G>A (p.Gln106=) single nucleotide variant Isolated microphthalmia 2 [RCV001446015] Chr14:74239879 [GRCh38]
Chr14:74706582 [GRCh37]
Chr14:14q24.3
likely benign
NM_182894.3(VSX2):c.222C>T (p.Gly74=) single nucleotide variant Isolated microphthalmia 2 [RCV001411901] Chr14:74239783 [GRCh38]
Chr14:74706486 [GRCh37]
Chr14:14q24.3
likely benign
NM_182894.3(VSX2):c.156G>T (p.Ala52=) single nucleotide variant Isolated microphthalmia 2 [RCV001420071] Chr14:74239717 [GRCh38]
Chr14:74706420 [GRCh37]
Chr14:14q24.3
likely benign
NM_182894.3(VSX2):c.666C>T (p.Tyr222=) single nucleotide variant Isolated microphthalmia 2 [RCV001432796] Chr14:74259688 [GRCh38]
Chr14:74726391 [GRCh37]
Chr14:14q24.3
likely benign
NM_182894.3(VSX2):c.6G>C (p.Thr2=) single nucleotide variant Isolated microphthalmia 2 [RCV001430715] Chr14:74239567 [GRCh38]
Chr14:74706270 [GRCh37]
Chr14:14q24.3
likely benign
NM_182894.3(VSX2):c.822C>G (p.Arg274=) single nucleotide variant Isolated microphthalmia 2 [RCV001407342] Chr14:74260655 [GRCh38]
Chr14:74727358 [GRCh37]
Chr14:14q24.3
likely benign
NM_182894.3(VSX2):c.780G>A (p.Leu260=) single nucleotide variant Isolated microphthalmia 2 [RCV001425751] Chr14:74260613 [GRCh38]
Chr14:74727316 [GRCh37]
Chr14:14q24.3
likely benign
NM_182894.3(VSX2):c.322T>C (p.Leu108=) single nucleotide variant Isolated microphthalmia 2 [RCV001430640] Chr14:74239883 [GRCh38]
Chr14:74706586 [GRCh37]
Chr14:14q24.3
likely benign
NM_182894.3(VSX2):c.69G>A (p.Gly23=) single nucleotide variant Isolated microphthalmia 2 [RCV001434409] Chr14:74239630 [GRCh38]
Chr14:74706333 [GRCh37]
Chr14:14q24.3
likely benign
NM_182894.3(VSX2):c.1086G>A (p.Ter362=) single nucleotide variant Isolated microphthalmia 2 [RCV001410445] Chr14:74260919 [GRCh38]
Chr14:74727622 [GRCh37]
Chr14:14q24.3
likely benign
NM_182894.3(VSX2):c.456-9T>C single nucleotide variant Isolated microphthalmia 2 [RCV001410346] Chr14:74245156 [GRCh38]
Chr14:74711859 [GRCh37]
Chr14:14q24.3
likely benign
NM_182894.3(VSX2):c.921G>A (p.Ala307=) single nucleotide variant Isolated microphthalmia 2 [RCV001417512] Chr14:74260754 [GRCh38]
Chr14:74727457 [GRCh37]
Chr14:14q24.3
likely benign
NM_182894.3(VSX2):c.525C>T (p.Val175=) single nucleotide variant Isolated microphthalmia 2 [RCV001397819] Chr14:74245234 [GRCh38]
Chr14:74711937 [GRCh37]
Chr14:14q24.3
likely benign
NM_182894.3(VSX2):c.870C>T (p.Pro290=) single nucleotide variant Isolated microphthalmia 2 [RCV001444868] Chr14:74260703 [GRCh38]
Chr14:74727406 [GRCh37]
Chr14:14q24.3
likely benign
NM_182894.3(VSX2):c.288G>T (p.Val96=) single nucleotide variant Isolated microphthalmia 2 [RCV001447731] Chr14:74239849 [GRCh38]
Chr14:74706552 [GRCh37]
Chr14:14q24.3
likely benign
NM_182894.3(VSX2):c.606G>A (p.Lys202=) single nucleotide variant Isolated microphthalmia 2 [RCV001411314] Chr14:74259628 [GRCh38]
Chr14:74726331 [GRCh37]
Chr14:14q24.3
likely benign
NM_182894.3(VSX2):c.720C>T (p.Ala240=) single nucleotide variant Isolated microphthalmia 2 [RCV001448183] Chr14:74259742 [GRCh38]
Chr14:74726445 [GRCh37]
Chr14:14q24.3
likely benign
NM_182894.3(VSX2):c.456-216T>A single nucleotide variant not provided [RCV001581634] Chr14:74244949 [GRCh38]
Chr14:74711652 [GRCh37]
Chr14:14q24.3
likely benign
NM_182894.3(VSX2):c.456-156AG[11] microsatellite not provided [RCV001587875] Chr14:74245008..74245009 [GRCh38]
Chr14:74711711..74711712 [GRCh37]
Chr14:14q24.3
likely benign
NM_182894.3(VSX2):c.456-238T>A single nucleotide variant not provided [RCV001619438] Chr14:74244927 [GRCh38]
Chr14:74711630 [GRCh37]
Chr14:14q24.3
benign
NM_182894.3(VSX2):c.192G>A (p.Ala64=) single nucleotide variant Isolated microphthalmia 2 [RCV001499482] Chr14:74239753 [GRCh38]
Chr14:74706456 [GRCh37]
Chr14:14q24.3
likely benign
NM_182894.3(VSX2):c.456-242T>A single nucleotide variant not provided [RCV001716539] Chr14:74244923 [GRCh38]
Chr14:74711626 [GRCh37]
Chr14:14q24.3
benign
NM_182894.3(VSX2):c.760+10C>T single nucleotide variant Isolated microphthalmia 2 [RCV001491399] Chr14:74259792 [GRCh38]
Chr14:74726495 [GRCh37]
Chr14:14q24.3
likely benign
NM_182894.3(VSX2):c.456-182A>T single nucleotide variant not provided [RCV001655510] Chr14:74244983 [GRCh38]
Chr14:74711686 [GRCh37]
Chr14:14q24.3
benign
NM_182894.3(VSX2):c.184C>T (p.Leu62=) single nucleotide variant Isolated microphthalmia 2 [RCV001452149] Chr14:74239745 [GRCh38]
Chr14:74706448 [GRCh37]
Chr14:14q24.3
likely benign
NM_182894.3(VSX2):c.711C>T (p.Leu237=) single nucleotide variant Isolated microphthalmia 2 [RCV001452283] Chr14:74259733 [GRCh38]
Chr14:74726436 [GRCh37]
Chr14:14q24.3
likely benign
NM_182894.3(VSX2):c.246G>A (p.Gly82=) single nucleotide variant Isolated microphthalmia 2 [RCV001487629] Chr14:74239807 [GRCh38]
Chr14:74706510 [GRCh37]
Chr14:14q24.3
likely benign
NM_182894.3(VSX2):c.456-240T>A single nucleotide variant not provided [RCV001654899] Chr14:74244925 [GRCh38]
Chr14:74711628 [GRCh37]
Chr14:14q24.3
benign
NM_182894.3(VSX2):c.456-183GA[10] microsatellite not provided [RCV001589743] Chr14:74244982..74244987 [GRCh38]
Chr14:74711685..74711690 [GRCh37]
Chr14:14q24.3
likely benign
NM_182894.3(VSX2):c.612G>A (p.Arg204=) single nucleotide variant Isolated microphthalmia 2 [RCV001454100] Chr14:74259634 [GRCh38]
Chr14:74726337 [GRCh37]
Chr14:14q24.3
likely benign
NM_182894.3(VSX2):c.162C>T (p.Asp54=) single nucleotide variant Isolated microphthalmia 2 [RCV001477433] Chr14:74239723 [GRCh38]
Chr14:74706426 [GRCh37]
Chr14:14q24.3
likely benign
NM_182894.3(VSX2):c.455+7C>T single nucleotide variant Isolated microphthalmia 2 [RCV001502891] Chr14:74241273 [GRCh38]
Chr14:74707976 [GRCh37]
Chr14:14q24.3
likely benign
NM_182894.3(VSX2):c.819A>G (p.Glu273=) single nucleotide variant Isolated microphthalmia 2 [RCV001487320] Chr14:74260652 [GRCh38]
Chr14:74727355 [GRCh37]
Chr14:14q24.3
likely benign
NM_182894.3(VSX2):c.762G>A (p.Gly254=) single nucleotide variant Isolated microphthalmia 2 [RCV001464698] Chr14:74260595 [GRCh38]
Chr14:74727298 [GRCh37]
Chr14:14q24.3
likely benign
NM_182894.3(VSX2):c.240G>C (p.Gly80=) single nucleotide variant Isolated microphthalmia 2 [RCV001467197] Chr14:74239801 [GRCh38]
Chr14:74706504 [GRCh37]
Chr14:14q24.3
likely benign
NM_182894.3(VSX2):c.1017G>A (p.Glu339=) single nucleotide variant Isolated microphthalmia 2 [RCV001478864] Chr14:74260850 [GRCh38]
Chr14:74727553 [GRCh37]
Chr14:14q24.3
likely benign
NM_182894.3(VSX2):c.654G>A (p.Glu218=) single nucleotide variant Isolated microphthalmia 2 [RCV001465983] Chr14:74259676 [GRCh38]
Chr14:74726379 [GRCh37]
Chr14:14q24.3
likely benign
NM_182894.3(VSX2):c.1002C>G (p.Thr334=) single nucleotide variant Isolated microphthalmia 2 [RCV001498590] Chr14:74260835 [GRCh38]
Chr14:74727538 [GRCh37]
Chr14:14q24.3
likely benign
NM_182894.3(VSX2):c.873C>T (p.Asp291=) single nucleotide variant Isolated microphthalmia 2 [RCV001434493] Chr14:74260706 [GRCh38]
Chr14:74727409 [GRCh37]
Chr14:14q24.3
likely benign
NM_182894.3(VSX2):c.165C>A (p.Gly55=) single nucleotide variant Isolated microphthalmia 2 [RCV001400352] Chr14:74239726 [GRCh38]
Chr14:74706429 [GRCh37]
Chr14:14q24.3
likely benign
NM_182894.3(VSX2):c.267G>A (p.Thr89=) single nucleotide variant Isolated microphthalmia 2 [RCV001419566] Chr14:74239828 [GRCh38]
Chr14:74706531 [GRCh37]
Chr14:14q24.3
likely benign
NM_182894.3(VSX2):c.336G>C (p.Ser112=) single nucleotide variant Isolated microphthalmia 2 [RCV001437300] Chr14:74239897 [GRCh38]
Chr14:74706600 [GRCh37]
Chr14:14q24.3
likely benign
NM_182894.3(VSX2):c.42C>A (p.Ser14=) single nucleotide variant Isolated microphthalmia 2 [RCV001416443] Chr14:74239603 [GRCh38]
Chr14:74706306 [GRCh37]
Chr14:14q24.3
likely benign
NM_182894.3(VSX2):c.177G>A (p.Gly59=) single nucleotide variant Isolated microphthalmia 2 [RCV001504137] Chr14:74239738 [GRCh38]
Chr14:74706441 [GRCh37]
Chr14:14q24.3
likely benign
NM_182894.3(VSX2):c.117C>A (p.Gly39=) single nucleotide variant Isolated microphthalmia 2 [RCV001416803] Chr14:74239678 [GRCh38]
Chr14:74706381 [GRCh37]
Chr14:14q24.3
likely benign
NM_182894.3(VSX2):c.294C>T (p.Ser98=) single nucleotide variant Isolated microphthalmia 2 [RCV001466853] Chr14:74239855 [GRCh38]
Chr14:74706558 [GRCh37]
Chr14:14q24.3
likely benign
NM_182894.3(VSX2):c.579+8C>A single nucleotide variant Isolated microphthalmia 2 [RCV001456698] Chr14:74245296 [GRCh38]
Chr14:74711999 [GRCh37]
Chr14:14q24.3
likely benign
GRCh37/hg19 14q24.3(chr14:74490251-75116040)x3 copy number gain not provided [RCV001827622] Chr14:74490251..75116040 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_182894.3(VSX2):c.654G>T (p.Glu218Asp) single nucleotide variant Isolated microphthalmia 2 [RCV001946535] Chr14:74259676 [GRCh38]
Chr14:74726379 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_182894.3(VSX2):c.179dup (p.His60fs) duplication Isolated microphthalmia 2 [RCV001910499] Chr14:74239739..74239740 [GRCh38]
Chr14:74706442..74706443 [GRCh37]
Chr14:14q24.3
pathogenic
NM_182894.3(VSX2):c.224del (p.Gly75fs) deletion Isolated microphthalmia 2 [RCV001905978] Chr14:74239784 [GRCh38]
Chr14:74706487 [GRCh37]
Chr14:14q24.3
pathogenic
NM_182894.3(VSX2):c.87C>A (p.Cys29Ter) single nucleotide variant Isolated microphthalmia 2 [RCV001942909] Chr14:74239648 [GRCh38]
Chr14:74706351 [GRCh37]
Chr14:14q24.3
pathogenic
NM_182894.3(VSX2):c.59del (p.Ser20fs) deletion Isolated microphthalmia 2 [RCV002000144] Chr14:74239620 [GRCh38]
Chr14:74706323 [GRCh37]
Chr14:14q24.3
pathogenic
NM_182894.3(VSX2):c.51G>A (p.Val17=) single nucleotide variant Isolated microphthalmia 2 [RCV001994972] Chr14:74239612 [GRCh38]
Chr14:74706315 [GRCh37]
Chr14:14q24.3
likely benign
NM_182894.3(VSX2):c.84del (p.Arg28fs) deletion Isolated microphthalmia 2 [RCV001879333] Chr14:74239644 [GRCh38]
Chr14:74706347 [GRCh37]
Chr14:14q24.3
pathogenic
NM_182894.3(VSX2):c.608G>A (p.Trp203Ter) single nucleotide variant Isolated microphthalmia 2 [RCV001993138] Chr14:74259630 [GRCh38]
Chr14:74726333 [GRCh37]
Chr14:14q24.3
pathogenic
NM_182894.3(VSX2):c.589C>T (p.Gln197Ter) single nucleotide variant Isolated microphthalmia 2 [RCV001931412] Chr14:74259611 [GRCh38]
Chr14:74726314 [GRCh37]
Chr14:14q24.3
pathogenic
NC_000014.8:g.(?_74707875)_(74712001_?)del deletion Isolated microphthalmia 2 [RCV001956123] Chr14:74707875..74712001 [GRCh37]
Chr14:14q24.3
pathogenic
NM_182894.3(VSX2):c.50_51insAT (p.Ala18fs) insertion Isolated microphthalmia 2 [RCV001925563] Chr14:74239610..74239611 [GRCh38]
Chr14:74706313..74706314 [GRCh37]
Chr14:14q24.3
pathogenic
NM_182894.3(VSX2):c.596G>A (p.Arg199His) single nucleotide variant Isolated microphthalmia 2 [RCV001955544] Chr14:74259618 [GRCh38]
Chr14:74726321 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_182894.3(VSX2):c.371-1G>A single nucleotide variant Isolated microphthalmia 2 [RCV001884138]|Microphthalmia, isolated, with coloboma 3 [RCV002077342] Chr14:74241181 [GRCh38]
Chr14:74707884 [GRCh37]
Chr14:14q24.3
pathogenic
NM_182894.3(VSX2):c.1017G>C (p.Glu339Asp) single nucleotide variant Isolated microphthalmia 2 [RCV001976363] Chr14:74260850 [GRCh38]
Chr14:74727553 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_182894.3(VSX2):c.201G>C (p.Val67=) single nucleotide variant Isolated microphthalmia 2 [RCV002107141] Chr14:74239762 [GRCh38]
Chr14:74706465 [GRCh37]
Chr14:14q24.3
likely benign
NM_182894.3(VSX2):c.183G>A (p.Leu61=) single nucleotide variant Isolated microphthalmia 2 [RCV002167925] Chr14:74239744 [GRCh38]
Chr14:74706447 [GRCh37]
Chr14:14q24.3
likely benign
NM_182894.3(VSX2):c.660G>A (p.Gly220=) single nucleotide variant Isolated microphthalmia 2 [RCV002130487] Chr14:74259682 [GRCh38]
Chr14:74726385 [GRCh37]
Chr14:14q24.3
likely benign
NM_182894.3(VSX2):c.882G>A (p.Ala294=) single nucleotide variant Isolated microphthalmia 2 [RCV002167320] Chr14:74260715 [GRCh38]
Chr14:74727418 [GRCh37]
Chr14:14q24.3
likely benign
NM_182894.3(VSX2):c.1044G>A (p.Pro348=) single nucleotide variant Isolated microphthalmia 2 [RCV002117210] Chr14:74260877 [GRCh38]
Chr14:74727580 [GRCh37]
Chr14:14q24.3
likely benign
NM_182894.3(VSX2):c.840C>T (p.Leu280=) single nucleotide variant Isolated microphthalmia 2 [RCV002132642] Chr14:74260673 [GRCh38]
Chr14:74727376 [GRCh37]
Chr14:14q24.3
likely benign
NM_182894.3(VSX2):c.1023G>A (p.Glu341=) single nucleotide variant Isolated microphthalmia 2 [RCV002116528] Chr14:74260856 [GRCh38]
Chr14:74727559 [GRCh37]
Chr14:14q24.3
likely benign
NM_182894.3(VSX2):c.321A>G (p.Pro107=) single nucleotide variant Isolated microphthalmia 2 [RCV002153277] Chr14:74239882 [GRCh38]
Chr14:74706585 [GRCh37]
Chr14:14q24.3
likely benign
NM_182894.3(VSX2):c.300G>A (p.Pro100=) single nucleotide variant Isolated microphthalmia 2 [RCV002151616] Chr14:74239861 [GRCh38]
Chr14:74706564 [GRCh37]
Chr14:14q24.3
likely benign
NM_182894.3(VSX2):c.616C>A (p.Arg206=) single nucleotide variant Isolated microphthalmia 2 [RCV002152833] Chr14:74259638 [GRCh38]
Chr14:74726341 [GRCh37]
Chr14:14q24.3
likely benign
NM_182894.3(VSX2):c.480A>G (p.Leu160=) single nucleotide variant Isolated microphthalmia 2 [RCV002113946] Chr14:74245189 [GRCh38]
Chr14:74711892 [GRCh37]
Chr14:14q24.3
likely benign
NM_182894.3(VSX2):c.1026C>T (p.Ala342=) single nucleotide variant Isolated microphthalmia 2 [RCV002076055] Chr14:74260859 [GRCh38]
Chr14:74727562 [GRCh37]
Chr14:14q24.3
likely benign
NM_182894.3(VSX2):c.370+10G>A single nucleotide variant Isolated microphthalmia 2 [RCV002096186] Chr14:74239941 [GRCh38]
Chr14:74706644 [GRCh37]
Chr14:14q24.3
likely benign
NM_182894.3(VSX2):c.598C>A (p.Arg200=) single nucleotide variant Isolated microphthalmia 2 [RCV002131571] Chr14:74259620 [GRCh38]
Chr14:74726323 [GRCh37]
Chr14:14q24.3
likely benign
NM_182894.3(VSX2):c.189G>T (p.Ala63=) single nucleotide variant Isolated microphthalmia 2 [RCV002113518] Chr14:74239750 [GRCh38]
Chr14:74706453 [GRCh37]
Chr14:14q24.3
likely benign
NM_182894.3(VSX2):c.459A>T (p.Thr153=) single nucleotide variant Isolated microphthalmia 2 [RCV002150226] Chr14:74245168 [GRCh38]
Chr14:74711871 [GRCh37]
Chr14:14q24.3
likely benign
NM_182894.3(VSX2):c.397C>A (p.Arg133=) single nucleotide variant Isolated microphthalmia 2 [RCV002177388] Chr14:74241208 [GRCh38]
Chr14:74707911 [GRCh37]
Chr14:14q24.3
likely benign
NM_182894.3(VSX2):c.48A>T (p.Thr16=) single nucleotide variant Isolated microphthalmia 2 [RCV002178422] Chr14:74239609 [GRCh38]
Chr14:74706312 [GRCh37]
Chr14:14q24.3
likely benign
NM_182894.3(VSX2):c.306C>T (p.Ser102=) single nucleotide variant Isolated microphthalmia 2 [RCV002118795] Chr14:74239867 [GRCh38]
Chr14:74706570 [GRCh37]
Chr14:14q24.3
likely benign
NM_182894.3(VSX2):c.1074G>A (p.Glu358=) single nucleotide variant Isolated microphthalmia 2 [RCV002083660] Chr14:74260907 [GRCh38]
Chr14:74727610 [GRCh37]
Chr14:14q24.3
likely benign
NM_182894.3(VSX2):c.813G>A (p.Glu271=) single nucleotide variant Isolated microphthalmia 2 [RCV002183778] Chr14:74260646 [GRCh38]
Chr14:74727349 [GRCh37]
Chr14:14q24.3
likely benign
NM_182894.3(VSX2):c.483G>A (p.Glu161=) single nucleotide variant Isolated microphthalmia 2 [RCV002098127] Chr14:74245192 [GRCh38]
Chr14:74711895 [GRCh37]
Chr14:14q24.3
likely benign
NM_182894.3(VSX2):c.371-9G>T single nucleotide variant Isolated microphthalmia 2 [RCV002136111] Chr14:74241173 [GRCh38]
Chr14:74707876 [GRCh37]
Chr14:14q24.3
likely benign
NM_182894.3(VSX2):c.867C>T (p.Gly289=) single nucleotide variant Isolated microphthalmia 2 [RCV002183032] Chr14:74260700 [GRCh38]
Chr14:74727403 [GRCh37]
Chr14:14q24.3
likely benign
NM_182894.3(VSX2):c.760+9C>T single nucleotide variant Isolated microphthalmia 2 [RCV002203203] Chr14:74259791 [GRCh38]
Chr14:74726494 [GRCh37]
Chr14:14q24.3
likely benign
NM_182894.3(VSX2):c.600A>C (p.Arg200=) single nucleotide variant Isolated microphthalmia 2 [RCV002183592] Chr14:74259622 [GRCh38]
Chr14:74726325 [GRCh37]
Chr14:14q24.3
likely benign
NM_182894.3(VSX2):c.600A>G (p.Arg200=) single nucleotide variant Isolated microphthalmia 2 [RCV002101160] Chr14:74259622 [GRCh38]
Chr14:74726325 [GRCh37]
Chr14:14q24.3
likely benign
NM_182894.3(VSX2):c.486G>A (p.Glu162=) single nucleotide variant Isolated microphthalmia 2 [RCV002163088] Chr14:74245195 [GRCh38]
Chr14:74711898 [GRCh37]
Chr14:14q24.3
likely benign
NM_182894.3(VSX2):c.778C>T (p.Leu260=) single nucleotide variant Isolated microphthalmia 2 [RCV002140590] Chr14:74260611 [GRCh38]
Chr14:74727314 [GRCh37]
Chr14:14q24.3
likely benign
NM_182894.3(VSX2):c.144C>T (p.His48=) single nucleotide variant Isolated microphthalmia 2 [RCV002103050] Chr14:74239705 [GRCh38]
Chr14:74706408 [GRCh37]
Chr14:14q24.3
likely benign
NC_000014.8:g.(?_74726295)_(74727632_?)del deletion Isolated microphthalmia 2 [RCV003113928] Chr14:74726295..74727632 [GRCh37]
Chr14:14q24.3
pathogenic
GRCh37/hg19 14q13.3-32.33(chr14:37671058-106985955)x2 copy number gain See cases [RCV002286356] Chr14:37671058..106985955 [GRCh37]
Chr14:14q13.3-32.33
pathogenic
NM_182894.3(VSX2):c.456-156AG[6] microsatellite not provided [RCV002286035] Chr14:74245009..74245016 [GRCh38]
Chr14:74711712..74711719 [GRCh37]
Chr14:14q24.3
likely benign
NM_182894.3(VSX2):c.274A>T (p.Thr92Ser) single nucleotide variant Inborn genetic diseases [RCV003261123] Chr14:74239835 [GRCh38]
Chr14:74706538 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_182894.3(VSX2):c.474C>T (p.Tyr158=) single nucleotide variant Isolated microphthalmia 2 [RCV002862740] Chr14:74245183 [GRCh38]
Chr14:74711886 [GRCh37]
Chr14:14q24.3
likely benign
NM_182894.3(VSX2):c.580G>A (p.Val194Ile) single nucleotide variant Inborn genetic diseases [RCV002836639] Chr14:74259602 [GRCh38]
Chr14:74726305 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_182894.3(VSX2):c.104A>G (p.Gln35Arg) single nucleotide variant Isolated microphthalmia 2 [RCV002771115] Chr14:74239665 [GRCh38]
Chr14:74706368 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_182894.3(VSX2):c.960G>T (p.Val320=) single nucleotide variant Isolated microphthalmia 2 [RCV003017581] Chr14:74260793 [GRCh38]
Chr14:74727496 [GRCh37]
Chr14:14q24.3
likely benign
NM_182894.3(VSX2):c.669G>T (p.Gly223=) single nucleotide variant Isolated microphthalmia 2 [RCV003017584] Chr14:74259691 [GRCh38]
Chr14:74726394 [GRCh37]
Chr14:14q24.3
likely benign
NM_182894.3(VSX2):c.148C>A (p.Arg50=) single nucleotide variant Isolated microphthalmia 2 [RCV003033729] Chr14:74239709 [GRCh38]
Chr14:74706412 [GRCh37]
Chr14:14q24.3
likely benign
NM_182894.3(VSX2):c.84G>A (p.Arg28=) single nucleotide variant Isolated microphthalmia 2 [RCV002770975] Chr14:74239645 [GRCh38]
Chr14:74706348 [GRCh37]
Chr14:14q24.3
likely benign
NM_182894.3(VSX2):c.240G>A (p.Gly80=) single nucleotide variant Isolated microphthalmia 2 [RCV003034990] Chr14:74239801 [GRCh38]
Chr14:74706504 [GRCh37]
Chr14:14q24.3
likely benign
NM_182894.3(VSX2):c.134C>T (p.Pro45Leu) single nucleotide variant Isolated microphthalmia 2 [RCV002904315] Chr14:74239695 [GRCh38]
Chr14:74706398 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_182894.3(VSX2):c.346G>A (p.Asp116Asn) single nucleotide variant Isolated microphthalmia 2 [RCV002696323] Chr14:74239907 [GRCh38]
Chr14:74706610 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_182894.3(VSX2):c.201G>T (p.Val67=) single nucleotide variant Isolated microphthalmia 2 [RCV002871503] Chr14:74239762 [GRCh38]
Chr14:74706465 [GRCh37]
Chr14:14q24.3
likely benign
NM_182894.3(VSX2):c.929G>C (p.Arg310Pro) single nucleotide variant Inborn genetic diseases [RCV002759709] Chr14:74260762 [GRCh38]
Chr14:74727465 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_182894.3(VSX2):c.967A>G (p.Thr323Ala) single nucleotide variant Isolated microphthalmia 2 [RCV002695907] Chr14:74260800 [GRCh38]
Chr14:74727503 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_182894.3(VSX2):c.419del (p.Ala139_Leu140insTer) deletion Isolated microphthalmia 2 [RCV002885006] Chr14:74241228 [GRCh38]
Chr14:74707931 [GRCh37]
Chr14:14q24.3
pathogenic
NM_182894.3(VSX2):c.513del (p.Tyr172fs) deletion Isolated microphthalmia 2 [RCV002756871] Chr14:74245222 [GRCh38]
Chr14:74711925 [GRCh37]
Chr14:14q24.3
pathogenic
NM_182894.3(VSX2):c.300G>T (p.Pro100=) single nucleotide variant Isolated microphthalmia 2 [RCV002706572] Chr14:74239861 [GRCh38]
Chr14:74706564 [GRCh37]
Chr14:14q24.3
likely benign
NM_182894.3(VSX2):c.297C>T (p.Asp99=) single nucleotide variant Isolated microphthalmia 2 [RCV002780692] Chr14:74239858 [GRCh38]
Chr14:74706561 [GRCh37]
Chr14:14q24.3
likely benign
NM_182894.3(VSX2):c.580-12G>T single nucleotide variant Isolated microphthalmia 2 [RCV002927579] Chr14:74259590 [GRCh38]
Chr14:74726293 [GRCh37]
Chr14:14q24.3
likely benign
NM_182894.3(VSX2):c.580-2A>C single nucleotide variant Isolated microphthalmia 2 [RCV003035344] Chr14:74259600 [GRCh38]
Chr14:74726303 [GRCh37]
Chr14:14q24.3
likely pathogenic
NM_182894.3(VSX2):c.696G>A (p.Leu232=) single nucleotide variant Isolated microphthalmia 2 [RCV003059784] Chr14:74259718 [GRCh38]
Chr14:74726421 [GRCh37]
Chr14:14q24.3
likely benign
NM_182894.3(VSX2):c.15del (p.Glu7fs) deletion Isolated microphthalmia 2 [RCV002852768] Chr14:74239576 [GRCh38]
Chr14:74706279 [GRCh37]
Chr14:14q24.3
pathogenic
NM_182894.3(VSX2):c.286G>C (p.Val96Leu) single nucleotide variant Inborn genetic diseases [RCV002664852] Chr14:74239847 [GRCh38]
Chr14:74706550 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_182894.3(VSX2):c.174C>A (p.Pro58=) single nucleotide variant Isolated microphthalmia 2 [RCV002872120] Chr14:74239735 [GRCh38]
Chr14:74706438 [GRCh37]
Chr14:14q24.3
likely benign
NM_182894.3(VSX2):c.885C>T (p.Ala295=) single nucleotide variant Isolated microphthalmia 2 [RCV002623708] Chr14:74260718 [GRCh38]
Chr14:74727421 [GRCh37]
Chr14:14q24.3
likely benign
NM_182894.3(VSX2):c.126G>A (p.Lys42=) single nucleotide variant Isolated microphthalmia 2 [RCV002871637] Chr14:74239687 [GRCh38]
Chr14:74706390 [GRCh37]
Chr14:14q24.3
likely benign
NM_182894.3(VSX2):c.8G>A (p.Gly3Glu) single nucleotide variant Inborn genetic diseases [RCV002644815] Chr14:74239569 [GRCh38]
Chr14:74706272 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_182894.3(VSX2):c.471C>A (p.Ser157=) single nucleotide variant Isolated microphthalmia 2 [RCV002872777] Chr14:74245180 [GRCh38]
Chr14:74711883 [GRCh37]
Chr14:14q24.3
likely benign
NM_182894.3(VSX2):c.135G>C (p.Pro45=) single nucleotide variant Isolated microphthalmia 2 [RCV002623738] Chr14:74239696 [GRCh38]
Chr14:74706399 [GRCh37]
Chr14:14q24.3
likely benign
NM_182894.3(VSX2):c.684C>T (p.His228=) single nucleotide variant Isolated microphthalmia 2 [RCV002575906] Chr14:74259706 [GRCh38]
Chr14:74726409 [GRCh37]
Chr14:14q24.3
likely benign
NM_182894.3(VSX2):c.582C>T (p.Val194=) single nucleotide variant Isolated microphthalmia 2 [RCV003022196] Chr14:74259604 [GRCh38]
Chr14:74726307 [GRCh37]
Chr14:14q24.3
likely benign
NM_182894.3(VSX2):c.240G>T (p.Gly80=) single nucleotide variant Isolated microphthalmia 2 [RCV002933628] Chr14:74239801 [GRCh38]
Chr14:74706504 [GRCh37]
Chr14:14q24.3
likely benign
NM_182894.3(VSX2):c.455+11del deletion Isolated microphthalmia 2 [RCV003063819] Chr14:74241273 [GRCh38]
Chr14:74707976 [GRCh37]
Chr14:14q24.3
benign
NM_182894.3(VSX2):c.171C>T (p.Ala57=) single nucleotide variant Isolated microphthalmia 2 [RCV002627534] Chr14:74239732 [GRCh38]
Chr14:74706435 [GRCh37]
Chr14:14q24.3
likely benign
NM_182894.3(VSX2):c.456-18C>T single nucleotide variant Isolated microphthalmia 2 [RCV002647847] Chr14:74245147 [GRCh38]
Chr14:74711850 [GRCh37]
Chr14:14q24.3
likely benign
NM_182894.3(VSX2):c.1051A>G (p.Arg351Gly) single nucleotide variant Isolated microphthalmia 2 [RCV002895686] Chr14:74260884 [GRCh38]
Chr14:74727587 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_182894.3(VSX2):c.840C>G (p.Leu280=) single nucleotide variant Isolated microphthalmia 2 [RCV002671584] Chr14:74260673 [GRCh38]
Chr14:74727376 [GRCh37]
Chr14:14q24.3
likely benign
NM_182894.3(VSX2):c.164G>A (p.Gly55Asp) single nucleotide variant Inborn genetic diseases [RCV002935472] Chr14:74239725 [GRCh38]
Chr14:74706428 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_182894.3(VSX2):c.264C>G (p.Tyr88Ter) single nucleotide variant Isolated microphthalmia 2 [RCV002835089] Chr14:74239825 [GRCh38]
Chr14:74706528 [GRCh37]
Chr14:14q24.3
pathogenic
NM_182894.3(VSX2):c.159C>T (p.Leu53=) single nucleotide variant Isolated microphthalmia 2 [RCV003064071] Chr14:74239720 [GRCh38]
Chr14:74706423 [GRCh37]
Chr14:14q24.3
likely benign
NM_182894.3(VSX2):c.754C>T (p.Leu252=) single nucleotide variant Isolated microphthalmia 2 [RCV002716310] Chr14:74259776 [GRCh38]
Chr14:74726479 [GRCh37]
Chr14:14q24.3
likely benign
NM_182894.3(VSX2):c.523G>A (p.Val175Ile) single nucleotide variant Isolated microphthalmia 2 [RCV002628668] Chr14:74245232 [GRCh38]
Chr14:74711935 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_182894.3(VSX2):c.525C>G (p.Val175=) single nucleotide variant Isolated microphthalmia 2 [RCV002715556] Chr14:74245234 [GRCh38]
Chr14:74711937 [GRCh37]
Chr14:14q24.3
likely benign
NM_182894.3(VSX2):c.667G>C (p.Gly223Arg) single nucleotide variant Isolated microphthalmia 2 [RCV003026986] Chr14:74259689 [GRCh38]
Chr14:74726392 [GRCh37]
Chr14:14q24.3
pathogenic
NM_182894.3(VSX2):c.795G>A (p.Glu265=) single nucleotide variant Isolated microphthalmia 2 [RCV002899252] Chr14:74260628 [GRCh38]
Chr14:74727331 [GRCh37]
Chr14:14q24.3
likely benign
NM_182894.3(VSX2):c.558G>A (p.Glu186=) single nucleotide variant Isolated microphthalmia 2 [RCV002898623] Chr14:74245267 [GRCh38]
Chr14:74711970 [GRCh37]
Chr14:14q24.3
likely benign
NM_182894.3(VSX2):c.409A>G (p.Lys137Glu) single nucleotide variant Isolated microphthalmia 2 [RCV002649481] Chr14:74241220 [GRCh38]
Chr14:74707923 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_182894.3(VSX2):c.617G>A (p.Arg206Gln) single nucleotide variant Inborn genetic diseases [RCV002633574]|Isolated microphthalmia 2 [RCV002633573] Chr14:74259639 [GRCh38]
Chr14:74726342 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_182894.3(VSX2):c.193C>T (p.Arg65Cys) single nucleotide variant Inborn genetic diseases [RCV002655843] Chr14:74239754 [GRCh38]
Chr14:74706457 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_182894.3(VSX2):c.580-8A>G single nucleotide variant Isolated microphthalmia 2 [RCV002583985] Chr14:74259594 [GRCh38]
Chr14:74726297 [GRCh37]
Chr14:14q24.3
likely benign
NM_182894.3(VSX2):c.1069C>G (p.Leu357Val) single nucleotide variant Inborn genetic diseases [RCV003200638] Chr14:74260902 [GRCh38]
Chr14:74727605 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_182894.3(VSX2):c.664dup (p.Tyr222fs) duplication not provided [RCV003134761] Chr14:74259685..74259686 [GRCh38]
Chr14:74726388..74726389 [GRCh37]
Chr14:14q24.3
likely pathogenic
NM_182894.3(VSX2):c.994C>T (p.Arg332Trp) single nucleotide variant Inborn genetic diseases [RCV003185585] Chr14:74260827 [GRCh38]
Chr14:74727530 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_182894.3(VSX2):c.881C>T (p.Ala294Val) single nucleotide variant Inborn genetic diseases [RCV003359243] Chr14:74260714 [GRCh38]
Chr14:74727417 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_182894.3(VSX2):c.775T>C (p.Ser259Pro) single nucleotide variant Inborn genetic diseases [RCV003363642] Chr14:74260608 [GRCh38]
Chr14:74727311 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_182894.3(VSX2):c.690C>T (p.Ile230=) single nucleotide variant Isolated microphthalmia 2 [RCV003873139] Chr14:74259712 [GRCh38]
Chr14:74726415 [GRCh37]
Chr14:14q24.3
likely benign
GRCh37/hg19 14q23.1-32.33(chr14:58894502-107227240)x3 copy number gain not provided [RCV003485036] Chr14:58894502..107227240 [GRCh37]
Chr14:14q23.1-32.33
pathogenic
GRCh37/hg19 14q24.3(chr14:74386185-74726710)x3 copy number gain not provided [RCV003485043] Chr14:74386185..74726710 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_182894.3(VSX2):c.483G>T (p.Glu161Asp) single nucleotide variant VSX2-related condition [RCV003392734] Chr14:74245192 [GRCh38]
Chr14:74711895 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_182894.3(VSX2):c.579+14G>A single nucleotide variant Isolated microphthalmia 2 [RCV003630249] Chr14:74245302 [GRCh38]
Chr14:74712005 [GRCh37]
Chr14:14q24.3
likely benign
NM_182894.3(VSX2):c.390C>T (p.Ser130=) single nucleotide variant Isolated microphthalmia 2 [RCV003630254] Chr14:74241201 [GRCh38]
Chr14:74707904 [GRCh37]
Chr14:14q24.3
likely benign
NM_182894.3(VSX2):c.961C>T (p.Leu321=) single nucleotide variant Isolated microphthalmia 2 [RCV003630383] Chr14:74260794 [GRCh38]
Chr14:74727497 [GRCh37]
Chr14:14q24.3
likely benign
NM_182894.3(VSX2):c.627C>T (p.Cys209=) single nucleotide variant Isolated microphthalmia 2 [RCV003629724] Chr14:74259649 [GRCh38]
Chr14:74726352 [GRCh37]
Chr14:14q24.3
likely benign
NM_182894.3(VSX2):c.760+15C>T single nucleotide variant Isolated microphthalmia 2 [RCV003629751] Chr14:74259797 [GRCh38]
Chr14:74726500 [GRCh37]
Chr14:14q24.3
likely benign
NM_182894.3(VSX2):c.579+14G>T single nucleotide variant Isolated microphthalmia 2 [RCV003876817] Chr14:74245302 [GRCh38]
Chr14:74712005 [GRCh37]
Chr14:14q24.3
likely benign
NM_182894.3(VSX2):c.189G>A (p.Ala63=) single nucleotide variant Isolated microphthalmia 2 [RCV003629902] Chr14:74239750 [GRCh38]
Chr14:74706453 [GRCh37]
Chr14:14q24.3
likely benign
NM_182894.3(VSX2):c.255T>C (p.Pro85=) single nucleotide variant Isolated microphthalmia 2 [RCV003629636] Chr14:74239816 [GRCh38]
Chr14:74706519 [GRCh37]
Chr14:14q24.3
likely benign
NM_182894.3(VSX2):c.456-14C>T single nucleotide variant Isolated microphthalmia 2 [RCV003878495] Chr14:74245151 [GRCh38]
Chr14:74711854 [GRCh37]
Chr14:14q24.3
likely benign
NM_182894.3(VSX2):c.579+20C>T single nucleotide variant Isolated microphthalmia 2 [RCV003629017] Chr14:74245308 [GRCh38]
Chr14:74712011 [GRCh37]
Chr14:14q24.3
likely benign
NM_182894.3(VSX2):c.4del (p.Thr2fs) deletion Isolated microphthalmia 2 [RCV003630329] Chr14:74239565 [GRCh38]
Chr14:74706268 [GRCh37]
Chr14:14q24.3
pathogenic
NM_182894.3(VSX2):c.455+1G>A single nucleotide variant Isolated microphthalmia 2 [RCV003630373] Chr14:74241267 [GRCh38]
Chr14:74707970 [GRCh37]
Chr14:14q24.3
likely pathogenic
NM_182894.3(VSX2):c.642T>C (p.Ser214=) single nucleotide variant Isolated microphthalmia 2 [RCV003628998] Chr14:74259664 [GRCh38]
Chr14:74726367 [GRCh37]
Chr14:14q24.3
likely benign
NM_182894.3(VSX2):c.969T>C (p.Thr323=) single nucleotide variant Isolated microphthalmia 2 [RCV003630388] Chr14:74260802 [GRCh38]
Chr14:74727505 [GRCh37]
Chr14:14q24.3
likely benign
NM_182894.3(VSX2):c.444G>A (p.Lys148=) single nucleotide variant Isolated microphthalmia 2 [RCV003629825] Chr14:74241255 [GRCh38]
Chr14:74707958 [GRCh37]
Chr14:14q24.3
likely benign
NM_182894.3(VSX2):c.579+11T>C single nucleotide variant Isolated microphthalmia 2 [RCV003629911] Chr14:74245299 [GRCh38]
Chr14:74712002 [GRCh37]
Chr14:14q24.3
likely benign
NM_182894.3(VSX2):c.867C>A (p.Gly289=) single nucleotide variant Isolated microphthalmia 2 [RCV003629985] Chr14:74260700 [GRCh38]
Chr14:74727403 [GRCh37]
Chr14:14q24.3
likely benign
NM_182894.3(VSX2):c.414T>C (p.Ser138=) single nucleotide variant Isolated microphthalmia 2 [RCV003630174] Chr14:74241225 [GRCh38]
Chr14:74707928 [GRCh37]
Chr14:14q24.3
likely benign
NM_182894.3(VSX2):c.198A>G (p.Ser66=) single nucleotide variant Isolated microphthalmia 2 [RCV003630226] Chr14:74239759 [GRCh38]
Chr14:74706462 [GRCh37]
Chr14:14q24.3
likely benign
NM_182894.3(VSX2):c.96C>T (p.Phe32=) single nucleotide variant Isolated microphthalmia 2 [RCV003629635] Chr14:74239657 [GRCh38]
Chr14:74706360 [GRCh37]
Chr14:14q24.3
likely benign
NM_182894.3(VSX2):c.930G>A (p.Arg310=) single nucleotide variant Isolated microphthalmia 2 [RCV003629637] Chr14:74260763 [GRCh38]
Chr14:74727466 [GRCh37]
Chr14:14q24.3
likely benign
NM_182894.3(VSX2):c.370+13A>G single nucleotide variant Isolated microphthalmia 2 [RCV003630234] Chr14:74239944 [GRCh38]
Chr14:74706647 [GRCh37]
Chr14:14q24.3
likely benign
NM_182894.3(VSX2):c.371-18C>T single nucleotide variant Isolated microphthalmia 2 [RCV003628913] Chr14:74241164 [GRCh38]
Chr14:74707867 [GRCh37]
Chr14:14q24.3
likely benign
NM_182894.3(VSX2):c.939T>G (p.Ala313=) single nucleotide variant Isolated microphthalmia 2 [RCV003629638] Chr14:74260772 [GRCh38]
Chr14:74727475 [GRCh37]
Chr14:14q24.3
likely benign
NM_182894.3(VSX2):c.579+12G>T single nucleotide variant Isolated microphthalmia 2 [RCV003876815] Chr14:74245300 [GRCh38]
Chr14:74712003 [GRCh37]
Chr14:14q24.3
likely benign
NM_182894.3(VSX2):c.370+20G>C single nucleotide variant Isolated microphthalmia 2 [RCV003629036] Chr14:74239951 [GRCh38]
Chr14:74706654 [GRCh37]
Chr14:14q24.3
likely benign
NM_182894.3(VSX2):c.579+13A>C single nucleotide variant Isolated microphthalmia 2 [RCV003876816] Chr14:74245301 [GRCh38]
Chr14:74712004 [GRCh37]
Chr14:14q24.3
likely benign
NM_182894.3(VSX2):c.249G>T (p.Gly83=) single nucleotide variant Isolated microphthalmia 2 [RCV003629061] Chr14:74239810 [GRCh38]
Chr14:74706513 [GRCh37]
Chr14:14q24.3
likely benign
NM_182894.3(VSX2):c.636G>A (p.Arg212=) single nucleotide variant Isolated microphthalmia 2 [RCV003629074] Chr14:74259658 [GRCh38]
Chr14:74726361 [GRCh37]
Chr14:14q24.3
likely benign
NM_182894.3(VSX2):c.610A>C (p.Arg204=) single nucleotide variant Isolated microphthalmia 2 [RCV003628997] Chr14:74259632 [GRCh38]
Chr14:74726335 [GRCh37]
Chr14:14q24.3
likely benign
NM_182894.3(VSX2):c.996G>C (p.Arg332=) single nucleotide variant Isolated microphthalmia 2 [RCV003630428] Chr14:74260829 [GRCh38]
Chr14:74727532 [GRCh37]
Chr14:14q24.3
likely benign
NM_182894.3(VSX2):c.371-13G>T single nucleotide variant Isolated microphthalmia 2 [RCV003629936] Chr14:74241169 [GRCh38]
Chr14:74707872 [GRCh37]
Chr14:14q24.3
likely benign
NM_182894.3(VSX2):c.455+12G>T single nucleotide variant Isolated microphthalmia 2 [RCV003629722] Chr14:74241278 [GRCh38]
Chr14:74707981 [GRCh37]
Chr14:14q24.3
likely benign
NM_182894.3(VSX2):c.555G>T (p.Thr185=) single nucleotide variant Isolated microphthalmia 2 [RCV003630150] Chr14:74245264 [GRCh38]
Chr14:74711967 [GRCh37]
Chr14:14q24.3
likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1039
Count of miRNA genes:658
Interacting mature miRNAs:728
Transcripts:ENST00000261980
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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

Markers in Region
D14S1175  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371474,723,180 - 74,723,301UniSTSGRCh37
Build 361473,792,933 - 73,793,054RGDNCBI36
Celera1454,760,487 - 54,760,608RGD
Cytogenetic Map14q24.3UniSTS
HuRef1454,890,145 - 54,890,266UniSTS
D14S1271  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371474,705,808 - 74,705,995UniSTSGRCh37
Build 361473,775,561 - 73,775,748RGDNCBI36
Celera1454,743,096 - 54,743,283RGD
Cytogenetic Map14q24.3UniSTS
HuRef1454,872,779 - 54,872,966UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component
High
Medium 1 3 1 1 1
Low 1 1 12 103 55 1 81 6 311 6 41 6
Below cutoff 1029 1134 625 145 649 81 2600 770 3042 56 454 660 68 902 1546 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_013092 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_182894 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC005519 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC006349 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY336059 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC128153 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471061 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068264 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KM873239 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KM873240 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KM873241 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KM873242 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KM873243 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KM873244 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KM873245 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KM873246 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KR052794 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KR052795 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT454801 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT454802 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU342034 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU342035 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

RefSeq Acc Id: ENST00000261980   ⟹   ENSP00000261980
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1474,239,449 - 74,262,738 (+)Ensembl
RefSeq Acc Id: NM_182894   ⟹   NP_878314
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381474,239,449 - 74,262,738 (+)NCBI
GRCh371474,706,175 - 74,729,441 (+)ENTREZGENE
Build 361473,775,928 - 73,799,194 (+)NCBI Archive
HuRef1454,873,146 - 54,896,407 (+)ENTREZGENE
CHM1_11474,645,738 - 74,668,970 (+)NCBI
T2T-CHM13v2.01468,447,256 - 68,470,582 (+)NCBI
Sequence:
RefSeq Acc Id: NP_878314   ⟸   NM_182894
- UniProtKB: A1A4X6 (UniProtKB/Swiss-Prot),   P58304 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000261980   ⟸   ENST00000261980
Protein Domains
CVC   Homeobox   OAR

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P58304-F1-model_v2 AlphaFold P58304 1-361 view protein structure

Promoters
RGD ID:7228133
Promoter ID:EPDNEW_H19811
Type:initiation region
Name:VSX2_1
Description:visual system homeobox 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381474,239,449 - 74,239,509EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:1975 AgrOrtholog
COSMIC VSX2 COSMIC
Ensembl Genes ENSG00000119614 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000261980 ENTREZGENE
  ENST00000261980.3 UniProtKB/Swiss-Prot
Gene3D-CATH Homeodomain-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000119614 GTEx
HGNC ID HGNC:1975 ENTREZGENE
Human Proteome Map VSX2 Human Proteome Map
InterPro CVC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Homeobox-like_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Homeobox_CS UniProtKB/Swiss-Prot
  Homeobox_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  OAR_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:338917 UniProtKB/Swiss-Prot
NCBI Gene 338917 ENTREZGENE
OMIM 142993 OMIM
PANTHER VISUAL SYSTEM HOMEOBOX 2 UniProtKB/Swiss-Prot
  VISUAL SYSTEM HOMEOBOX 2 UniProtKB/Swiss-Prot
  VISUAL SYSTEM HOMEOBOX 2 UniProtKB/TrEMBL
  VISUAL SYSTEM HOMEOBOX 2 UniProtKB/TrEMBL
Pfam Homeodomain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  OAR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA26511 PharmGKB
PROSITE CVC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HOMEOBOX_1 UniProtKB/Swiss-Prot
  HOMEOBOX_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  OAR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART HOX UniProtKB/Swiss-Prot
Superfamily-SCOP SSF46689 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A0C5G2R3_HUMAN UniProtKB/TrEMBL
  A0A0C5G2R6_HUMAN UniProtKB/TrEMBL
  A0A0C5G9Q0_HUMAN UniProtKB/TrEMBL
  A0A0C5G9Q3_HUMAN UniProtKB/TrEMBL
  A0A0C5GCB1_HUMAN UniProtKB/TrEMBL
  A0A0C5GDS6_HUMAN UniProtKB/TrEMBL
  A0A0C5GPM7_HUMAN UniProtKB/TrEMBL
  A0A0C5GPM8_HUMAN UniProtKB/TrEMBL
  A0A0H3W5J1_HUMAN UniProtKB/TrEMBL
  A0A0H3W5U6_HUMAN UniProtKB/TrEMBL
  A0A0Y0SDY8_HUMAN UniProtKB/TrEMBL
  A0A0Y0SIA8_HUMAN UniProtKB/TrEMBL
  A0A127AXL4_HUMAN UniProtKB/TrEMBL
  A0A127AYT6_HUMAN UniProtKB/TrEMBL
  A1A4X6 ENTREZGENE
  P58304 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary A1A4X6 UniProtKB/Swiss-Prot