PHF3 (PHD finger protein 3) - Rat Genome Database

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Gene: PHF3 (PHD finger protein 3) Homo sapiens
Analyze
Symbol: PHF3
Name: PHD finger protein 3
RGD ID: 1312646
HGNC Page HGNC:8921
Description: Predicted to enable metal ion binding activity. Predicted to be involved in DNA-templated transcription. Predicted to be active in nucleus.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: KIAA0244; MGC142210; MGC142212
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38663,635,802 - 63,726,011 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl663,635,802 - 63,779,336 (+)EnsemblGRCh38hg38GRCh38
GRCh37664,345,707 - 64,435,904 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36664,414,390 - 64,482,364 (+)NCBINCBI36Build 36hg18NCBI36
Build 34664,414,389 - 64,482,364NCBI
Celera662,516,983 - 62,584,942 (+)NCBICelera
Cytogenetic Map6q12NCBI
HuRef661,536,716 - 61,605,152 (+)NCBIHuRef
CHM1_1664,522,719 - 64,590,670 (+)NCBICHM1_1
T2T-CHM13v2.0664,781,733 - 64,872,211 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:9039502   PMID:11464277   PMID:11856869   PMID:12168954   PMID:12477932   PMID:14574404   PMID:14702039   PMID:15302935   PMID:15345747   PMID:15489334   PMID:15906353   PMID:16964243  
PMID:17081983   PMID:18187620   PMID:21873635   PMID:22096494   PMID:22586326   PMID:23324950   PMID:23602568   PMID:24163370   PMID:24457600   PMID:24961364   PMID:24981860   PMID:25363768  
PMID:26167880   PMID:26299517   PMID:26496610   PMID:26972000   PMID:27684187   PMID:28077445   PMID:28186131   PMID:28263302   PMID:28514442   PMID:28700943   PMID:29117863   PMID:29180619  
PMID:29395067   PMID:29478914   PMID:29507755   PMID:29509190   PMID:29568061   PMID:29656893   PMID:29844126   PMID:30021884   PMID:30585729   PMID:30804502   PMID:30884312   PMID:30890647  
PMID:31091453   PMID:31527615   PMID:32416067   PMID:32707033   PMID:32786267   PMID:33640491   PMID:33961781   PMID:34079125   PMID:34244565   PMID:34349018   PMID:34667177   PMID:34672954  
PMID:34795231   PMID:35013218   PMID:35271311   PMID:35439318   PMID:35563538   PMID:35850772   PMID:35915203   PMID:35944360   PMID:36089195   PMID:36114006   PMID:36232890   PMID:36244648  
PMID:36373674   PMID:36424410   PMID:36526897   PMID:36543142   PMID:36931259   PMID:37071682   PMID:37704626   PMID:37827155   PMID:38280479   PMID:38943005  


Genomics

Comparative Map Data
PHF3
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38663,635,802 - 63,726,011 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl663,635,802 - 63,779,336 (+)EnsemblGRCh38hg38GRCh38
GRCh37664,345,707 - 64,435,904 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36664,414,390 - 64,482,364 (+)NCBINCBI36Build 36hg18NCBI36
Build 34664,414,389 - 64,482,364NCBI
Celera662,516,983 - 62,584,942 (+)NCBICelera
Cytogenetic Map6q12NCBI
HuRef661,536,716 - 61,605,152 (+)NCBIHuRef
CHM1_1664,522,719 - 64,590,670 (+)NCBICHM1_1
T2T-CHM13v2.0664,781,733 - 64,872,211 (+)NCBIT2T-CHM13v2.0
Phf3
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39130,841,417 - 30,912,989 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl130,841,420 - 30,913,002 (-)EnsemblGRCm39 Ensembl
GRCm38130,802,342 - 30,873,922 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl130,802,339 - 30,873,921 (-)EnsemblGRCm38mm10GRCm38
MGSCv37130,859,187 - 30,920,101 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36130,746,888 - 30,818,418 (-)NCBIMGSCv36mm8
Celera130,604,134 - 30,667,015 (-)NCBICelera
Cytogenetic Map1A5- BNCBI
cM Map111.45NCBI
Phf3
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8940,559,929 - 40,632,096 (-)NCBIGRCr8
mRatBN7.2933,063,855 - 33,136,013 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl933,063,857 - 33,135,994 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx941,556,629 - 41,628,765 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0946,687,692 - 46,759,740 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0944,969,550 - 45,041,601 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0937,073,514 - 37,144,027 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl937,073,514 - 37,144,015 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0935,878,437 - 35,948,938 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4929,464,632 - 29,537,291 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1929,466,743 - 29,529,306 (-)NCBI
Celera930,884,199 - 30,956,203 (-)NCBICelera
Cytogenetic Map9q21NCBI
Phf3
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955502196,056 - 271,749 (-)EnsemblChiLan1.0
ChiLan1.0NW_004955502195,332 - 271,749 (-)NCBIChiLan1.0ChiLan1.0
PHF3
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2578,498,078 - 78,576,532 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1673,157,926 - 73,236,824 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0661,321,462 - 61,400,421 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1666,594,022 - 66,673,655 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl666,604,032 - 66,672,571 (+)Ensemblpanpan1.1panPan2
PHF3
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11227,104,504 - 27,181,657 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1227,105,398 - 27,219,496 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1227,012,852 - 27,089,962 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01227,639,730 - 27,717,366 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1227,639,938 - 27,715,991 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11227,145,414 - 27,221,910 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01227,227,000 - 27,304,143 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01227,323,850 - 27,400,986 (+)NCBIUU_Cfam_GSD_1.0
Phf3
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494662,579,605 - 62,664,506 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049364761,296,423 - 1,368,411 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049364761,295,697 - 1,380,608 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PHF3
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl145,219,448 - 45,296,401 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1145,219,390 - 45,295,074 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
PHF3
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11711,080,557 - 11,163,821 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1711,081,360 - 11,153,230 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605817,372,764 - 17,459,476 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Phf3
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462475321,968,617 - 22,042,684 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in PHF3
535 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001142800.2(EYS):c.9260T>C (p.Leu3087Pro) single nucleotide variant not provided [RCV001367663] Chr6:63720771 [GRCh38]
Chr6:64430667 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001290259.1(PHF3):c.3759A>G (p.Leu1253=) single nucleotide variant Malignant melanoma [RCV000067434] Chr6:63711611 [GRCh38]
Chr6:64421507 [GRCh37]
Chr6:64479466 [NCBI36]
Chr6:6q12		 not provided
NM_001290259.1(PHF3):c.4466C>T (p.Ser1489Leu) single nucleotide variant Malignant melanoma [RCV000067435] Chr6:63712318 [GRCh38]
Chr6:64422214 [GRCh37]
Chr6:64480173 [NCBI36]
Chr6:6q12		 not provided
NM_001142800.2(EYS):c.8243dup (p.Leu2748fs) duplication Retinal dystrophy [RCV003889974]|Retinitis pigmentosa 25 [RCV003465676]|not provided [RCV000757242] Chr6:63721787..63721788 [GRCh38]
Chr6:64431683..64431684 [GRCh37]
Chr6:6q12		 pathogenic|likely pathogenic|uncertain significance
NM_001142800.2(EYS):c.8816G>C (p.Cys2939Ser) single nucleotide variant Retinitis pigmentosa 25 [RCV001002721] Chr6:63721215 [GRCh38]
Chr6:64431111 [GRCh37]
Chr6:6q12		 pathogenic
NM_001142800.2(EYS):c.8779T>C (p.Cys2927Arg) single nucleotide variant Retinal dystrophy [RCV001073470]|Retinitis pigmentosa 25 [RCV002249466]|Retinitis pigmentosa [RCV000787601]|not provided [RCV000762414] Chr6:63721252 [GRCh38]
Chr6:64431148 [GRCh37]
Chr6:6q12		 pathogenic|likely pathogenic
GRCh38/hg38 6p12.1-q12(chr6:53931543-68149750)x3 copy number gain See cases [RCV000137097] Chr6:53931543..68149750 [GRCh38]
Chr6:53796341..68859642 [GRCh37]
Chr6:53904300..68916363 [NCBI36]
Chr6:6p12.1-q12		 pathogenic
GRCh38/hg38 6p11.2-q12(chr6:57466921-68712228)x3 copy number gain See cases [RCV000138052] Chr6:57466921..68712228 [GRCh38]
Chr6:57329882..69422120 [GRCh37]
Chr6:57437841..69478841 [NCBI36]
Chr6:6p11.2-q12		 pathogenic
NM_001370348.2(PHF3):c.1981C>G (p.Leu661Val) single nucleotide variant not specified [RCV004320374] Chr6:63685703 [GRCh38]
Chr6:64395604 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001142800.2(EYS):c.9144T>C (p.Val3048=) single nucleotide variant Autosomal recessive retinitis pigmentosa [RCV001278443] Chr6:63720887 [GRCh38]
Chr6:64430783 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001142800.2(EYS):c.9218A>C (p.His3073Pro) single nucleotide variant Autosomal recessive retinitis pigmentosa [RCV001278440] Chr6:63720813 [GRCh38]
Chr6:64430709 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001142800.2(EYS):c.9235C>G (p.Leu3079Val) single nucleotide variant Autosomal recessive retinitis pigmentosa [RCV001277919]|not provided [RCV002537777]|not specified [RCV003490164] Chr6:63720796 [GRCh38]
Chr6:64430692 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001142800.2(EYS):c.9156T>C (p.Asn3052=) single nucleotide variant Autosomal recessive retinitis pigmentosa [RCV001278442]|not provided [RCV002537794] Chr6:63720875 [GRCh38]
Chr6:64430771 [GRCh37]
Chr6:6q12		 likely benign|uncertain significance
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3 copy number gain See cases [RCV000512067] Chr6:156975..170919482 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482) copy number gain See cases [RCV000510595] Chr6:156975..170919482 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
NM_001142800.2(EYS):c.9167T>C (p.Ile3056Thr) single nucleotide variant Inborn genetic diseases [RCV003276583] Chr6:63720864 [GRCh38]
Chr6:64430760 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001370348.2(PHF3):c.743T>G (p.Val248Gly) single nucleotide variant not specified [RCV004318282] Chr6:63684465 [GRCh38]
Chr6:64394366 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001370348.2(PHF3):c.4250T>C (p.Leu1417Pro) single nucleotide variant not specified [RCV004327468] Chr6:63711838 [GRCh38]
Chr6:64421734 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001370348.2(PHF3):c.3890G>A (p.Arg1297His) single nucleotide variant Intellectual disability [RCV001252342]|Neurodevelopmental delay [RCV002274160] Chr6:63711255 [GRCh38]
Chr6:64421151 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001142800.2(EYS):c.8326G>C (p.Val2776Leu) single nucleotide variant Retinitis pigmentosa [RCV000276712] Chr6:63721705 [GRCh38]
Chr6:64431601 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001142800.2(EYS):c.8408dup (p.Asn2803fs) duplication Retinal dystrophy [RCV001074553]|Retinitis pigmentosa 25 [RCV002247476]|not provided [RCV000178517] Chr6:63721622..63721623 [GRCh38]
Chr6:64431518..64431519 [GRCh37]
Chr6:6q12		 pathogenic
NM_001142800.2(EYS):c.8648_8655del (p.Thr2883fs) deletion Retinal dystrophy [RCV001073669]|Retinitis pigmentosa 25 [RCV000664636]|Retinitis pigmentosa [RCV000787599]|not provided [RCV000802397] Chr6:63721376..63721383 [GRCh38]
Chr6:64431272..64431279 [GRCh37]
Chr6:6q12		 pathogenic|likely pathogenic
NM_001142800.2(EYS):c.8255_8260del (p.Leu2752_Asn2754delinsTyr) deletion Retinitis pigmentosa [RCV001003012]|not provided [RCV002549198] Chr6:63721771..63721776 [GRCh38]
Chr6:64431667..64431672 [GRCh37]
Chr6:6q12		 pathogenic|uncertain significance
NM_001142800.2(EYS):c.9209T>C (p.Ile3070Thr) single nucleotide variant Retinal dystrophy [RCV003888558]|Retinitis pigmentosa [RCV000132637]|not provided [RCV000938878]|not specified [RCV003330509] Chr6:63720822 [GRCh38]
Chr6:64430718 [GRCh37]
Chr6:6q12		 pathogenic|benign|likely benign|uncertain significance
GRCh37/hg19 6p25.3-q27(chr6:108666-170980171)x3 copy number gain not provided [RCV000745403] Chr6:108666..170980171 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
GRCh37/hg19 6p25.3-q27(chr6:60107-171054786)x3 copy number gain not provided [RCV000745400] Chr6:60107..171054786 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
GRCh37/hg19 6p25.3-q27(chr6:165632-170919470)x3 copy number gain not provided [RCV000745404] Chr6:165632..170919470 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
GRCh37/hg19 6q12(chr6:64408113-64771342)x3 copy number gain not provided [RCV000745779] Chr6:64408113..64771342 [GRCh37]
Chr6:6q12		 benign
NM_001142800.2(EYS):c.9186C>T (p.Asn3062=) single nucleotide variant Retinitis pigmentosa 25 [RCV001825844]|not provided [RCV000917063] Chr6:63720845 [GRCh38]
Chr6:64430741 [GRCh37]
Chr6:6q12		 likely benign
NM_001142800.2(EYS):c.9376_9379del (p.Ile3127fs) deletion Retinitis pigmentosa 25 [RCV002249659]|Retinitis pigmentosa [RCV003331034]|not provided [RCV001053175] Chr6:63720652..63720655 [GRCh38]
Chr6:64430548..64430551 [GRCh37]
Chr6:6q12		 pathogenic|likely pathogenic
NM_001370348.2(PHF3):c.5015G>C (p.Ser1672Thr) single nucleotide variant not specified [RCV004293606] Chr6:63712603 [GRCh38]
Chr6:64422499 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001142800.2(EYS):c.8680G>A (p.Gly2894Ser) single nucleotide variant Retinitis pigmentosa 25 [RCV001827369]|not provided [RCV001058503] Chr6:63721351 [GRCh38]
Chr6:64431247 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001142800.2(EYS):c.9059T>C (p.Ile3020Thr) single nucleotide variant Retinal dystrophy [RCV003890204]|Retinitis pigmentosa 25 [RCV002249665]|not provided [RCV001057746] Chr6:63720972 [GRCh38]
Chr6:64430868 [GRCh37]
Chr6:6q12		 pathogenic|likely pathogenic|uncertain significance
NM_001142800.2(EYS):c.8861T>A (p.Phe2954Tyr) single nucleotide variant Autosomal recessive retinitis pigmentosa [RCV001278447]|Inborn genetic diseases [RCV003160152]|Retinitis pigmentosa [RCV001164469]|not provided [RCV000998640] Chr6:63721170 [GRCh38]
Chr6:64431066 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001370348.2(PHF3):c.4548T>A (p.Thr1516=) single nucleotide variant not provided [RCV000922638] Chr6:63712136 [GRCh38]
Chr6:64422032 [GRCh37]
Chr6:6q12		 likely benign
NM_001370348.2(PHF3):c.2079C>T (p.Asn693=) single nucleotide variant not provided [RCV000899521] Chr6:63685801 [GRCh38]
Chr6:64395702 [GRCh37]
Chr6:6q12		 benign|likely benign
NM_001370348.2(PHF3):c.5375G>C (p.Ser1792Thr) single nucleotide variant PHF3-related disorder [RCV003936167]|not provided [RCV000973386] Chr6:63712963 [GRCh38]
Chr6:64422859 [GRCh37]
Chr6:6q12		 benign
NM_001142800.2(EYS):c.9354dup (p.Gln3119fs) duplication Retinitis pigmentosa 25 [RCV002249646]|Retinitis pigmentosa [RCV001844263]|not provided [RCV001044007] Chr6:63720676..63720677 [GRCh38]
Chr6:64430572..64430573 [GRCh37]
Chr6:6q12		 pathogenic|likely pathogenic
NM_001142800.2(EYS):c.9392G>A (p.Gly3131Glu) single nucleotide variant Retinal dystrophy [RCV001075562] Chr6:63720639 [GRCh38]
Chr6:64430535 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001142800.2(EYS):c.9383_9387del (p.Lys3128fs) microsatellite Retinal dystrophy [RCV001073496]|Retinitis pigmentosa 25 [RCV001833682]|not provided [RCV001382259] Chr6:63720644..63720648 [GRCh38]
Chr6:64430540..64430544 [GRCh37]
Chr6:6q12		 pathogenic|likely pathogenic
NM_001142800.2(EYS):c.8480CTT[1] (p.Ser2828del) microsatellite not provided [RCV001034911] Chr6:63721546..63721548 [GRCh38]
Chr6:64431442..64431444 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001142800.2(EYS):c.9261dup (p.Gly3088fs) duplication Retinal dystrophy [RCV001074352]|not provided [RCV002554709] Chr6:63720769..63720770 [GRCh38]
Chr6:64430665..64430666 [GRCh37]
Chr6:6q12		 pathogenic|likely pathogenic
NM_001142800.2(EYS):c.8830G>A (p.Val2944Met) single nucleotide variant Retinitis pigmentosa 25 [RCV001271917]|not provided [RCV001070695] Chr6:63721201 [GRCh38]
Chr6:64431097 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001142800.2(EYS):c.8620T>C (p.Cys2874Arg) single nucleotide variant Retinal dystrophy [RCV001075176] Chr6:63721411 [GRCh38]
Chr6:64431307 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001142800.2(EYS):c.9083T>A (p.Ile3028Asn) single nucleotide variant Retinal dystrophy [RCV001075177] Chr6:63720948 [GRCh38]
Chr6:64430844 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001142800.2(EYS):c.8422G>A (p.Ala2808Thr) single nucleotide variant Retinal dystrophy [RCV003888653]|Retinitis pigmentosa 25 [RCV000667682]|Retinitis pigmentosa [RCV001164472]|not provided [RCV000757241]|not specified [RCV000239188] Chr6:63721609 [GRCh38]
Chr6:64431505 [GRCh37]
Chr6:6q12		 benign|likely benign|uncertain significance
NM_001370348.2(PHF3):c.1506C>T (p.Thr502=) single nucleotide variant PHF3-related disorder [RCV003943169]|not provided [RCV000968091] Chr6:63685228 [GRCh38]
Chr6:64395129 [GRCh37]
Chr6:6q12		 likely benign
NM_001370348.2(PHF3):c.1294G>A (p.Glu432Lys) single nucleotide variant PHF3-related disorder [RCV003970800]|not provided [RCV000958857] Chr6:63685016 [GRCh38]
Chr6:64394917 [GRCh37]
Chr6:6q12		 benign
NM_001142800.2(EYS):c.8916T>C (p.Tyr2972=) single nucleotide variant Retinitis pigmentosa [RCV001271916]|not provided [RCV000923849] Chr6:63721115 [GRCh38]
Chr6:64431011 [GRCh37]
Chr6:6q12		 likely benign
NM_001370348.2(PHF3):c.443A>G (p.Lys148Arg) single nucleotide variant not provided [RCV000963174] Chr6:63684165 [GRCh38]
Chr6:64394066 [GRCh37]
Chr6:6q12		 benign
GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367) copy number gain not provided [RCV000767714] Chr6:29455465..81447367 [GRCh37]
Chr6:6p22.1-q14.1		 pathogenic
NM_001142800.2(EYS):c.9237A>G (p.Leu3079=) single nucleotide variant Retinal dystrophy [RCV003888844]|Retinitis pigmentosa [RCV000270730]|not provided [RCV000908799] Chr6:63720794 [GRCh38]
Chr6:64430690 [GRCh37]
Chr6:6q12		 benign|uncertain significance
NM_001142800.2(EYS):c.8234-15T>A single nucleotide variant Retinitis pigmentosa [RCV000331448] Chr6:63721812 [GRCh38]
Chr6:64431708 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001142800.2(EYS):c.8314del (p.Thr2772fs) deletion not provided [RCV000729164] Chr6:63721717 [GRCh38]
Chr6:64431613 [GRCh37]
Chr6:6q12		 pathogenic
NM_001142800.2(EYS):c.9181A>T (p.Asn3061Tyr) single nucleotide variant Retinitis pigmentosa 25 [RCV000735774] Chr6:63720850 [GRCh38]
Chr6:64430746 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001142800.2(EYS):c.9079_9082del (p.Arg3027fs) microsatellite Retinitis pigmentosa 25 [RCV000673010]|Retinitis pigmentosa [RCV001779051]|not provided [RCV001207783] Chr6:63720949..63720952 [GRCh38]
Chr6:64430845..64430848 [GRCh37]
Chr6:6q12		 pathogenic|likely pathogenic
GRCh37/hg19 6q12(chr6:64415317-64465162)x3 copy number gain not provided [RCV000846260] Chr6:64415317..64465162 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001142800.2(EYS):c.9130T>C (p.Trp3044Arg) single nucleotide variant not provided [RCV000597172] Chr6:63720901 [GRCh38]
Chr6:64430797 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001142800.2(EYS):c.*529A>C single nucleotide variant Retinitis pigmentosa [RCV000341184] Chr6:63720067 [GRCh38]
Chr6:64429963 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001142800.2(EYS):c.8627G>T (p.Gly2876Val) single nucleotide variant Autosomal recessive retinitis pigmentosa [RCV001271837]|not provided [RCV001058179] Chr6:63721404 [GRCh38]
Chr6:64431300 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001142800.2(EYS):c.9108T>A (p.Asn3036Lys) single nucleotide variant Retinitis pigmentosa 25 [RCV001271915]|not provided [RCV001058548] Chr6:63720923 [GRCh38]
Chr6:64430819 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001142800.2(EYS):c.9317_9336del (p.Thr3106fs) deletion Retinitis pigmentosa 25 [RCV000673873]|Retinitis pigmentosa [RCV000787602]|not provided [RCV001058261] Chr6:63720695..63720714 [GRCh38]
Chr6:64430591..64430610 [GRCh37]
Chr6:6q12		 pathogenic|likely pathogenic
NM_001142800.2(EYS):c.8368A>G (p.Arg2790Gly) single nucleotide variant Retinitis pigmentosa 25 [RCV000670181]|Retinitis pigmentosa [RCV000505047]|not provided [RCV001362404]|not specified [RCV002282186] Chr6:63721663 [GRCh38]
Chr6:64431559 [GRCh37]
Chr6:6q12		 likely pathogenic|uncertain significance
NM_001142800.2(EYS):c.*98A>G single nucleotide variant Retinitis Pigmentosa, Recessive [RCV000310874] Chr6:63720498 [GRCh38]
Chr6:64430394 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001142800.2(EYS):c.9166_9167del (p.Ile3056fs) deletion Retinal dystrophy [RCV001075526]|Retinitis pigmentosa 25 [RCV000674335]|not provided [RCV001861840] Chr6:63720864..63720865 [GRCh38]
Chr6:64430760..64430761 [GRCh37]
Chr6:6q12		 pathogenic|likely pathogenic
NM_001142800.2(EYS):c.*412del deletion Retinitis Pigmentosa, Recessive [RCV000393031] Chr6:63720184 [GRCh38]
Chr6:64430080 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001142800.2(EYS):c.9432del (p.Ter3145LysextTer?) deletion not provided [RCV001062309] Chr6:63720599 [GRCh38]
Chr6:64430495 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001142800.2(EYS):c.8830del (p.Val2944fs) deletion Retinitis pigmentosa 25 [RCV000735773]|not provided [RCV001382122] Chr6:63721201 [GRCh38]
Chr6:64431097 [GRCh37]
Chr6:6q12		 pathogenic|likely pathogenic
NM_001142800.2(EYS):c.8789A>G (p.Asp2930Gly) single nucleotide variant Retinal dystrophy [RCV003888671]|Retinitis Pigmentosa, Recessive [RCV000371200]|Retinitis pigmentosa 25 [RCV003144191]|Retinitis pigmentosa [RCV001271918]|not provided [RCV000353162] Chr6:63721242 [GRCh38]
Chr6:64431138 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001142800.2(EYS):c.9286_9295del (p.Val3096fs) deletion EYS-related disorder [RCV004751444]|Retinal dystrophy [RCV001074689]|Retinitis pigmentosa 25 [RCV000367405]|Retinitis pigmentosa [RCV001003010]|not provided [RCV000726393] Chr6:63720736..63720745 [GRCh38]
Chr6:64430632..64430641 [GRCh37]
Chr6:6q12		 pathogenic|likely pathogenic
NM_001142800.2(EYS):c.9030A>G (p.Ala3010=) single nucleotide variant Retinitis pigmentosa 25 [RCV001831953]|Retinitis pigmentosa [RCV000307156]|not provided [RCV000883207]|not specified [RCV000153206] Chr6:63721001 [GRCh38]
Chr6:64430897 [GRCh37]
Chr6:6q12		 benign|likely benign|uncertain significance
NM_001142800.2(EYS):c.8376_8379dup (p.Glu2794fs) duplication Retinitis pigmentosa [RCV000132635] Chr6:63721651..63721652 [GRCh38]
Chr6:64431547..64431548 [GRCh37]
Chr6:6q12		 likely pathogenic
NM_001142800.2(EYS):c.8805C>A (p.Tyr2935Ter) single nucleotide variant EYS-related disorder [RCV004751283]|Retinal dystrophy [RCV001074003]|Retinitis pigmentosa 25 [RCV001808400]|Retinitis pigmentosa [RCV000132636]|not provided [RCV000803751] Chr6:63721226 [GRCh38]
Chr6:64431122 [GRCh37]
Chr6:6q12		 pathogenic|likely pathogenic
GRCh38/hg38 6q12(chr6:63719407-64994324)x3 copy number gain See cases [RCV000137366] Chr6:63719407..64994324 [GRCh38]
Chr6:64429303..65704217 [GRCh37]
Chr6:64487262..65760938 [NCBI36]
Chr6:6q12		 likely benign
NM_001142800.2(EYS):c.8793_8796del (p.Gln2931fs) deletion Retinal dystrophy [RCV003889927]|Retinitis pigmentosa 25 [RCV000735708]|Retinitis pigmentosa [RCV001199692]|not provided [RCV000585137] Chr6:63721235..63721238 [GRCh38]
Chr6:64431131..64431134 [GRCh37]
Chr6:6q12		 pathogenic|likely pathogenic|uncertain significance
NM_001142800.2(EYS):c.8674G>A (p.Val2892Ile) single nucleotide variant not provided [RCV000585514] Chr6:63721357 [GRCh38]
Chr6:64431253 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001142800.2(EYS):c.*278T>C single nucleotide variant Retinitis pigmentosa [RCV001162432] Chr6:63720318 [GRCh38]
Chr6:64430214 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001142800.2(EYS):c.9405T>A (p.Tyr3135Ter) single nucleotide variant EYS-related disorder [RCV003914789]|Retinal dystrophy [RCV001075385]|Retinitis pigmentosa 25 [RCV000000568]|Retinitis pigmentosa [RCV001723527]|not provided [RCV000593252] Chr6:63720626 [GRCh38]
Chr6:64430522 [GRCh37]
Chr6:6q12		 pathogenic|likely pathogenic
NM_001142800.2(EYS):c.9186_9187del (p.Asn3062fs) deletion Retinal dystrophy [RCV001075567]|Retinitis pigmentosa 25 [RCV001828266]|not provided [RCV000396619] Chr6:63720844..63720845 [GRCh38]
Chr6:64430740..64430741 [GRCh37]
Chr6:6q12		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_001142800.2(EYS):c.9392G>C (p.Gly3131Ala) single nucleotide variant Autosomal recessive retinitis pigmentosa [RCV001271835]|Retinitis pigmentosa 25 [RCV001376277]|Retinitis pigmentosa [RCV001162434]|not provided [RCV000513040]|not specified [RCV002248747] Chr6:63720639 [GRCh38]
Chr6:64430535 [GRCh37]
Chr6:6q12		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_001142800.2(EYS):c.8860T>C (p.Phe2954Leu) single nucleotide variant Retinal dystrophy [RCV003889950]|Retinitis pigmentosa 25 [RCV000667564]|Retinitis pigmentosa [RCV001164470]|not provided [RCV000938879]|not specified [RCV002271554] Chr6:63721171 [GRCh38]
Chr6:64431067 [GRCh37]
Chr6:6q12		 likely benign|uncertain significance
NM_001142800.2(EYS):c.8829G>A (p.Trp2943Ter) single nucleotide variant not provided [RCV001233192] Chr6:63721202 [GRCh38]
Chr6:64431098 [GRCh37]
Chr6:6q12		 pathogenic
NM_001142800.2(EYS):c.8252C>G (p.Ser2751Cys) single nucleotide variant not provided [RCV001248326] Chr6:63721779 [GRCh38]
Chr6:64431675 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001142800.2(EYS):c.9234_9249dup (p.Ile3084delinsSerLysLeuTer) duplication Retinitis pigmentosa 25 [RCV003469456]|not provided [RCV001240579] Chr6:63720781..63720782 [GRCh38]
Chr6:64430677..64430678 [GRCh37]
Chr6:6q12		 pathogenic|likely pathogenic
NM_001142800.2(EYS):c.9371T>C (p.Ile3124Thr) single nucleotide variant Retinitis pigmentosa 25 [RCV001834084]|not provided [RCV001239312] Chr6:63720660 [GRCh38]
Chr6:64430556 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001142800.2(EYS):c.9414T>G (p.Asp3138Glu) single nucleotide variant Retinal dystrophy [RCV003887947]|Retinitis pigmentosa 25 [RCV001828912]|not provided [RCV001238996] Chr6:63720617 [GRCh38]
Chr6:64430513 [GRCh37]
Chr6:6q12		 conflicting interpretations of pathogenicity|uncertain significance
NM_001142800.2(EYS):c.9344T>A (p.Val3115Asp) single nucleotide variant Retinitis pigmentosa 25 [RCV001830678]|Retinitis pigmentosa [RCV000787603]|not provided [RCV001227263] Chr6:63720687 [GRCh38]
Chr6:64430583 [GRCh37]
Chr6:6q12		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_001142800.2(EYS):c.8618A>G (p.Asp2873Gly) single nucleotide variant Retinitis pigmentosa 25 [RCV000670630]|Retinitis pigmentosa [RCV000504755]|not provided [RCV001857221] Chr6:63721413 [GRCh38]
Chr6:64431309 [GRCh37]
Chr6:6q12		 likely pathogenic|uncertain significance
NM_001142800.2(EYS):c.9342TGT[1] (p.Val3116del) microsatellite Retinitis Pigmentosa, Recessive [RCV000365494]|Retinitis pigmentosa 25 [RCV000672667]|not provided [RCV000961738]|not specified [RCV000305528] Chr6:63720684..63720686 [GRCh38]
Chr6:64430580..64430582 [GRCh37]
Chr6:6q12		 benign|likely benign|uncertain significance
NM_001142800.2(EYS):c.8879T>C (p.Met2960Thr) single nucleotide variant Retinitis pigmentosa 25 [RCV001830012]|not provided [RCV001247348] Chr6:63721152 [GRCh38]
Chr6:64431048 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001142800.2(EYS):c.9277_9278dup (p.Arg3094fs) duplication Retinal dystrophy [RCV000210301]|Retinitis pigmentosa 25 [RCV001828049]|Retinitis pigmentosa [RCV003114370]|not provided [RCV001387003] Chr6:63720752..63720753 [GRCh38]
Chr6:64430648..64430649 [GRCh37]
Chr6:6q12		 pathogenic|likely pathogenic
NM_001142800.2(EYS):c.8545C>T (p.Arg2849Ter) single nucleotide variant Retinal dystrophy [RCV003889932]|Retinitis pigmentosa 25 [RCV002248812]|not provided [RCV000597091] Chr6:63721486 [GRCh38]
Chr6:64431382 [GRCh37]
Chr6:6q12		 pathogenic|likely pathogenic|uncertain significance
NM_001142800.2(EYS):c.9400del (p.Val3134fs) deletion not provided [RCV000319016] Chr6:63720631 [GRCh38]
Chr6:64430527 [GRCh37]
Chr6:6q12		 pathogenic|likely pathogenic
NM_001142800.2(EYS):c.8678del (p.Asn2893fs) deletion Retinitis pigmentosa [RCV000609645] Chr6:63721353 [GRCh38]
Chr6:64431249 [GRCh37]
Chr6:6q12		 likely pathogenic
NM_001142800.2(EYS):c.8519A>G (p.Glu2840Gly) single nucleotide variant Astigmatism [RCV000626764]|Retinitis pigmentosa 25 [RCV001270170]|Visual impairment [RCV000626799] Chr6:63721512 [GRCh38]
Chr6:64431408 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001142800.2(EYS):c.9036del (p.Leu3013fs) deletion Retinitis pigmentosa 25 [RCV001784421]|not provided [RCV000802365] Chr6:63720995 [GRCh38]
Chr6:64430891 [GRCh37]
Chr6:6q12		 pathogenic
NM_001142800.2(EYS):c.8411dup (p.Thr2805fs) duplication Retinitis pigmentosa 25 [RCV000668210]|not provided [RCV000814959] Chr6:63721619..63721620 [GRCh38]
Chr6:64431515..64431516 [GRCh37]
Chr6:6q12		 pathogenic|likely pathogenic
NM_001142800.2(EYS):c.8429C>T (p.Thr2810Ile) single nucleotide variant Retinitis pigmentosa 25 [RCV000665932]|Retinitis pigmentosa [RCV001164471]|not provided [RCV000965012]|not specified [RCV000333936] Chr6:63721602 [GRCh38]
Chr6:64431498 [GRCh37]
Chr6:6q12		 benign|likely benign|uncertain significance
NM_001142800.2(EYS):c.9098del (p.Ser3033fs) deletion not provided [RCV001061621] Chr6:63720933 [GRCh38]
Chr6:64430829 [GRCh37]
Chr6:6q12		 pathogenic
NM_001370348.2(PHF3):c.1592A>G (p.Asn531Ser) single nucleotide variant Autism spectrum disorder [RCV003127248] Chr6:63685314 [GRCh38]
Chr6:64395215 [GRCh37]
Chr6:6q12		 likely benign
NM_001142800.2(EYS):c.9178A>C (p.Ile3060Leu) single nucleotide variant not specified [RCV003230954] Chr6:63720853 [GRCh38]
Chr6:64430749 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001370348.2(PHF3):c.1874A>G (p.Lys625Arg) single nucleotide variant not specified [RCV004315846] Chr6:63685596 [GRCh38]
Chr6:64395497 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001370348.2(PHF3):c.3599C>T (p.Thr1200Ile) single nucleotide variant not specified [RCV004305586] Chr6:63706764 [GRCh38]
Chr6:64416654 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001370348.2(PHF3):c.4363A>C (p.Thr1455Pro) single nucleotide variant not specified [RCV004282289] Chr6:63711951 [GRCh38]
Chr6:64421847 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001142800.2(EYS):c.8468T>C (p.Ile2823Thr) single nucleotide variant Retinitis pigmentosa [RCV001724861]|not provided [RCV003120653] Chr6:63721563 [GRCh38]
Chr6:64431459 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001142800.2(EYS):c.9403T>C (p.Tyr3135His) single nucleotide variant Inborn genetic diseases [RCV003242086] Chr6:63720628 [GRCh38]
Chr6:64430524 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001370348.2(PHF3):c.3232-6C>T single nucleotide variant PHF3-related disorder [RCV003930590]|not provided [RCV000883206] Chr6:63703530 [GRCh38]
Chr6:64413420 [GRCh37]
Chr6:6q12		 benign
NM_001370348.2(PHF3):c.454G>T (p.Ala152Ser) single nucleotide variant PHF3-related disorder [RCV003940614]|not provided [RCV000888719] Chr6:63684176 [GRCh38]
Chr6:64394077 [GRCh37]
Chr6:6q12		 benign
NM_001142800.2(EYS):c.8901C>T (p.Tyr2967=) single nucleotide variant Retinitis pigmentosa 25 [RCV001832280]|not provided [RCV000980612] Chr6:63721130 [GRCh38]
Chr6:64431026 [GRCh37]
Chr6:6q12		 likely benign
NM_001142800.2(EYS):c.8388C>T (p.Tyr2796=) single nucleotide variant not provided [RCV000982439] Chr6:63721643 [GRCh38]
Chr6:64431539 [GRCh37]
Chr6:6q12		 likely benign
NM_001142800.2(EYS):c.8834G>A (p.Gly2945Glu) single nucleotide variant Retinal dystrophy [RCV001073472]|Retinitis pigmentosa 25 [RCV001827220]|not provided [RCV001037096]|not specified [RCV002271614] Chr6:63721197 [GRCh38]
Chr6:64431093 [GRCh37]
Chr6:6q12		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_001142800.2(EYS):c.8565_8568del (p.Asn2855fs) deletion Retinitis pigmentosa 25 [RCV003469479]|Retinitis pigmentosa [RCV001249878]|not provided [RCV002570408] Chr6:63721463..63721466 [GRCh38]
Chr6:64431359..64431362 [GRCh37]
Chr6:6q12		 pathogenic|likely pathogenic
NM_001142800.2(EYS):c.9267dup (p.Phe3090fs) duplication not provided [RCV001212736] Chr6:63720763..63720764 [GRCh38]
Chr6:64430659..64430660 [GRCh37]
Chr6:6q12		 pathogenic
NM_001142800.2(EYS):c.8414C>A (p.Thr2805Lys) single nucleotide variant Retinitis pigmentosa 25 [RCV001828919]|not provided [RCV001239467] Chr6:63721617 [GRCh38]
Chr6:64431513 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001142800.2(EYS):c.9185A>G (p.Asn3062Ser) single nucleotide variant Autosomal recessive retinitis pigmentosa [RCV001278441]|not provided [RCV001245103] Chr6:63720846 [GRCh38]
Chr6:64430742 [GRCh37]
Chr6:6q12		 likely benign|uncertain significance
NM_001142800.2(EYS):c.8946A>G (p.Ile2982Met) single nucleotide variant Retinitis pigmentosa 25 [RCV001829041]|not provided [RCV001243732] Chr6:63721085 [GRCh38]
Chr6:64430981 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001142800.2(EYS):c.9088G>A (p.Val3030Met) single nucleotide variant Retinitis pigmentosa 25 [RCV001835243]|not provided [RCV001245478] Chr6:63720943 [GRCh38]
Chr6:64430839 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001142800.2(EYS):c.9338A>G (p.Lys3113Arg) single nucleotide variant not provided [RCV001202759] Chr6:63720693 [GRCh38]
Chr6:64430589 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001142800.2(EYS):c.8851A>G (p.Lys2951Glu) single nucleotide variant Retinitis pigmentosa 25 [RCV001828974]|not provided [RCV001241341] Chr6:63721180 [GRCh38]
Chr6:64431076 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001142800.2(EYS):c.9260_9262delinsAAA (p.Leu3087_Gly3088delinsGlnArg) indel not provided [RCV001241736] Chr6:63720769..63720771 [GRCh38]
Chr6:64430665..64430667 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001142800.2(EYS):c.9234T>G (p.Ala3078=) single nucleotide variant not provided [RCV000914005] Chr6:63720797 [GRCh38]
Chr6:64430693 [GRCh37]
Chr6:6q12		 likely benign
NM_001142800.2(EYS):c.9299_9302del (p.Thr3100fs) deletion EYS-related disorder [RCV003918614]|Retinal dystrophy [RCV001073642]|Retinitis pigmentosa 25 [RCV000987720]|Retinitis pigmentosa [RCV001724203]|not provided [RCV001057792] Chr6:63720729..63720732 [GRCh38]
Chr6:64430625..64430628 [GRCh37]
Chr6:6q12		 pathogenic|likely pathogenic
NM_001142800.2(EYS):c.8590G>T (p.Gly2864Ter) single nucleotide variant Retinitis pigmentosa 25 [RCV000987721]|not provided [RCV001858675] Chr6:63721441 [GRCh38]
Chr6:64431337 [GRCh37]
Chr6:6q12		 pathogenic
NM_001142800.2(EYS):c.9380_9399del (p.Ile3127fs) deletion not provided [RCV001009220] Chr6:63720632..63720651 [GRCh38]
Chr6:64430528..64430547 [GRCh37]
Chr6:6q12		 likely pathogenic
NM_001142800.2(EYS):c.8993T>C (p.Met2998Thr) single nucleotide variant Retinitis pigmentosa 25 [RCV001029832] Chr6:63721038 [GRCh38]
Chr6:64430934 [GRCh37]
Chr6:6q12		 likely pathogenic
NM_001142800.2(EYS):c.*286T>A single nucleotide variant Retinitis pigmentosa [RCV001162431] Chr6:63720310 [GRCh38]
Chr6:64430206 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001142800.2(EYS):c.8424del (p.Ser2809fs) deletion not provided [RCV001066883] Chr6:63721607 [GRCh38]
Chr6:64431503 [GRCh37]
Chr6:6q12		 pathogenic
NM_001142800.2(EYS):c.9266del (p.Gly3089fs) deletion not provided [RCV001067158] Chr6:63720765 [GRCh38]
Chr6:64430661 [GRCh37]
Chr6:6q12		 pathogenic
NM_001142800.2(EYS):c.9223_9232del (p.Asn3075fs) deletion Retinitis pigmentosa [RCV001003011] Chr6:63720799..63720808 [GRCh38]
Chr6:64430695..64430704 [GRCh37]
Chr6:6q12		 pathogenic
NM_001142800.2(EYS):c.8959A>G (p.Ser2987Gly) single nucleotide variant Retinitis pigmentosa 25 [RCV001591932]|not provided [RCV002569132] Chr6:63721072 [GRCh38]
Chr6:64430968 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001142800.2(EYS):c.8561_8564del (p.Asn2854fs) microsatellite not provided [RCV001069978] Chr6:63721467..63721470 [GRCh38]
Chr6:64431363..64431366 [GRCh37]
Chr6:6q12		 pathogenic
NM_001142800.2(EYS):c.*554A>G single nucleotide variant Retinitis pigmentosa [RCV001162428] Chr6:63720042 [GRCh38]
Chr6:64429938 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001142800.2(EYS):c.*514A>G single nucleotide variant Retinitis pigmentosa [RCV001162430] Chr6:63720082 [GRCh38]
Chr6:64429978 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001142800.2(EYS):c.8243del (p.Leu2748fs) deletion Retinitis pigmentosa 25 [RCV003469369]|not provided [RCV001215607] Chr6:63721788 [GRCh38]
Chr6:64431684 [GRCh37]
Chr6:6q12		 pathogenic|likely pathogenic
NM_001142800.2(EYS):c.9224del (p.Asn3075fs) deletion not provided [RCV001218883] Chr6:63720807 [GRCh38]
Chr6:64430703 [GRCh37]
Chr6:6q12		 pathogenic
NM_001142800.2(EYS):c.8984T>A (p.Ile2995Asn) single nucleotide variant Retinitis pigmentosa 25 [RCV003462698]|Retinitis pigmentosa [RCV003226443]|not provided [RCV001208831] Chr6:63721047 [GRCh38]
Chr6:64430943 [GRCh37]
Chr6:6q12		 pathogenic|likely pathogenic
NM_001142800.2(EYS):c.8723A>G (p.Asn2908Ser) single nucleotide variant Inborn genetic diseases [RCV003246793]|Retinitis pigmentosa 25 [RCV001828887]|not provided [RCV001237181] Chr6:63721308 [GRCh38]
Chr6:64431204 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001142800.2(EYS):c.*548G>A single nucleotide variant Retinitis pigmentosa [RCV001162429] Chr6:63720048 [GRCh38]
Chr6:64429944 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001142800.2(EYS):c.*189T>C single nucleotide variant Retinitis pigmentosa [RCV001162433] Chr6:63720407 [GRCh38]
Chr6:64430303 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001142800.2(EYS):c.9329G>C (p.Gly3110Ala) single nucleotide variant Retinitis pigmentosa [RCV001003009] Chr6:63720702 [GRCh38]
Chr6:64430598 [GRCh37]
Chr6:6q12		 likely pathogenic
NM_001142800.2(EYS):c.8598del (p.Gly2867fs) deletion Retinitis pigmentosa 25 [RCV001593220]|not provided [RCV001051193] Chr6:63721433 [GRCh38]
Chr6:64431329 [GRCh37]
Chr6:6q12		 pathogenic
NM_001142800.2(EYS):c.8892_8896del (p.Tyr2964_Lys2966delinsTer) deletion Retinitis pigmentosa 25 [RCV003467704]|not provided [RCV001035567] Chr6:63721135..63721139 [GRCh38]
Chr6:64431031..64431035 [GRCh37]
Chr6:6q12		 pathogenic|likely pathogenic
NM_001142800.2(EYS):c.9137A>G (p.His3046Arg) single nucleotide variant Autosomal recessive retinitis pigmentosa [RCV001271836]|not provided [RCV001044112] Chr6:63720894 [GRCh38]
Chr6:64430790 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001142800.2(EYS):c.9368A>C (p.Asn3123Thr) single nucleotide variant not provided [RCV001044285]|not specified [RCV004526069] Chr6:63720663 [GRCh38]
Chr6:64430559 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001142800.2(EYS):c.8750T>A (p.Leu2917Ter) single nucleotide variant Retinitis pigmentosa 25 [RCV002249666]|not provided [RCV001062754] Chr6:63721281 [GRCh38]
Chr6:64431177 [GRCh37]
Chr6:6q12		 pathogenic
NM_001142800.2(EYS):c.8846A>T (p.Glu2949Val) single nucleotide variant Retinitis pigmentosa 25 [RCV001833817]|not provided [RCV001206797] Chr6:63721185 [GRCh38]
Chr6:64431081 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001142800.2(EYS):c.9012_9020del (p.Glu3004_Asn3006del) deletion Retinitis pigmentosa 25 [RCV001832381]|not provided [RCV001037249] Chr6:63721011..63721019 [GRCh38]
Chr6:64430907..64430915 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001142800.2(EYS):c.8283C>G (p.Tyr2761Ter) single nucleotide variant not provided [RCV001045900] Chr6:63721748 [GRCh38]
Chr6:64431644 [GRCh37]
Chr6:6q12		 pathogenic
NM_001142800.2(EYS):c.8659G>T (p.Gly2887Ter) single nucleotide variant Retinitis pigmentosa 25 [RCV003462720]|not provided [RCV001213720] Chr6:63721372 [GRCh38]
Chr6:64431268 [GRCh37]
Chr6:6q12		 pathogenic|likely pathogenic
NM_001142800.2(EYS):c.8695T>C (p.Cys2899Arg) single nucleotide variant not provided [RCV001211354] Chr6:63721336 [GRCh38]
Chr6:64431232 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001142800.2(EYS):c.8734C>T (p.Gln2912Ter) single nucleotide variant Retinitis pigmentosa 25 [RCV003469406]|not provided [RCV001230006] Chr6:63721297 [GRCh38]
Chr6:64431193 [GRCh37]
Chr6:6q12		 pathogenic|likely pathogenic
NM_001142800.2(EYS):c.8476G>T (p.Val2826Leu) single nucleotide variant not provided [RCV001037018] Chr6:63721555 [GRCh38]
Chr6:64431451 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001142800.2(EYS):c.8999T>C (p.Ile3000Thr) single nucleotide variant Autosomal recessive retinitis pigmentosa [RCV001278444]|Retinitis pigmentosa 25 [RCV002484379]|not provided [RCV001246545] Chr6:63721032 [GRCh38]
Chr6:64430928 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001142800.2(EYS):c.9131G>T (p.Trp3044Leu) single nucleotide variant Retinal dystrophy [RCV001073340]|Retinitis pigmentosa 25 [RCV003462627]|Retinitis pigmentosa [RCV003155355] Chr6:63720900 [GRCh38]
Chr6:64430796 [GRCh37]
Chr6:6q12		 likely pathogenic|uncertain significance|no classifications from unflagged records
NM_001142800.2(EYS):c.9352T>C (p.Phe3118Leu) single nucleotide variant Retinitis pigmentosa 25 [RCV001827225]|not provided [RCV001037603] Chr6:63720679 [GRCh38]
Chr6:64430575 [GRCh37]
Chr6:6q12		 uncertain significance
NC_000006.11:g.(?_64389734)_(64454916_?)dup duplication not provided [RCV001032250] Chr6:64389734..64454916 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001142800.2(EYS):c.8522_8525del (p.Pro2841fs) deletion Retinal dystrophy [RCV001074989] Chr6:63721506..63721509 [GRCh38]
Chr6:64431402..64431405 [GRCh37]
Chr6:6q12		 likely pathogenic
NM_001142800.2(EYS):c.8989T>C (p.Trp2997Arg) single nucleotide variant not provided [RCV001349795] Chr6:63721042 [GRCh38]
Chr6:64430938 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001142800.2(EYS):c.9258T>A (p.Tyr3086Ter) single nucleotide variant Retinitis pigmentosa 25 [RCV001262395] Chr6:63720773 [GRCh38]
Chr6:64430669 [GRCh37]
Chr6:6q12		 likely pathogenic
NM_001142800.2(EYS):c.8845G>A (p.Glu2949Lys) single nucleotide variant Autosomal recessive retinitis pigmentosa [RCV001278448]|Retinal dystrophy [RCV003887981]|not provided [RCV001308846] Chr6:63721186 [GRCh38]
Chr6:64431082 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001142800.2(EYS):c.8599G>C (p.Gly2867Arg) single nucleotide variant Autosomal recessive retinitis pigmentosa [RCV001278450] Chr6:63721432 [GRCh38]
Chr6:64431328 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001142800.2(EYS):c.8530T>G (p.Phe2844Val) single nucleotide variant Autosomal recessive retinitis pigmentosa [RCV001278451]|not provided [RCV002537795] Chr6:63721501 [GRCh38]
Chr6:64431397 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001142800.2(EYS):c.8337C>T (p.Asn2779=) single nucleotide variant Autosomal recessive retinitis pigmentosa [RCV001278453]|not provided [RCV002069428] Chr6:63721694 [GRCh38]
Chr6:64431590 [GRCh37]
Chr6:6q12		 likely benign|uncertain significance
NM_001142800.2(EYS):c.8648_8649del (p.Thr2883fs) microsatellite not provided [RCV001268062] Chr6:63721382..63721383 [GRCh38]
Chr6:64431278..64431279 [GRCh37]
Chr6:6q12		 pathogenic
NM_001142800.2(EYS):c.8633C>G (p.Ala2878Gly) single nucleotide variant Retinal dystrophy [RCV003888011]|Retinitis pigmentosa 25 [RCV001836280]|not provided [RCV001308157] Chr6:63721398 [GRCh38]
Chr6:64431294 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001142800.2(EYS):c.8432A>T (p.Lys2811Ile) single nucleotide variant not provided [RCV001314964] Chr6:63721599 [GRCh38]
Chr6:64431495 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001142800.2(EYS):c.9061G>C (p.Ala3021Pro) single nucleotide variant Retinitis pigmentosa 25 [RCV001376518]|not provided [RCV001320706]|not specified [RCV003987831] Chr6:63720970 [GRCh38]
Chr6:64430866 [GRCh37]
Chr6:6q12		 pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_001142800.2(EYS):c.9269T>C (p.Phe3090Ser) single nucleotide variant not provided [RCV001348226] Chr6:63720762 [GRCh38]
Chr6:64430658 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001142800.2(EYS):c.9202G>A (p.Glu3068Lys) single nucleotide variant Retinitis pigmentosa 25 [RCV001835446]|not provided [RCV001302017] Chr6:63720829 [GRCh38]
Chr6:64430725 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001142800.2(EYS):c.8527G>C (p.Gly2843Arg) single nucleotide variant not provided [RCV001294923] Chr6:63721504 [GRCh38]
Chr6:64431400 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001142800.2(EYS):c.8239T>G (p.Phe2747Val) single nucleotide variant Retinitis pigmentosa 25 [RCV001376365]|not provided [RCV001840805] Chr6:63721792 [GRCh38]
Chr6:64431688 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001142800.2(EYS):c.8268_8272del (p.Val2757fs) deletion Retinal dystrophy [RCV003888082]|not provided [RCV001382435] Chr6:63721759..63721763 [GRCh38]
Chr6:64431655..64431659 [GRCh37]
Chr6:6q12		 pathogenic|uncertain significance
NM_001142800.2(EYS):c.8520A>G (p.Glu2840=) single nucleotide variant not provided [RCV001412811] Chr6:63721511 [GRCh38]
Chr6:64431407 [GRCh37]
Chr6:6q12		 likely benign
NM_001142800.2(EYS):c.8499T>A (p.Asn2833Lys) single nucleotide variant Retinitis pigmentosa 25 [RCV001831291]|not provided [RCV001369700] Chr6:63721532 [GRCh38]
Chr6:64431428 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001142800.2(EYS):c.8606C>G (p.Ser2869Ter) single nucleotide variant EYS-related disorder [RCV003416296]|Retinitis pigmentosa 25 [RCV001376254]|Retinitis pigmentosa [RCV001724305]|not provided [RCV001865893] Chr6:63721425 [GRCh38]
Chr6:64431321 [GRCh37]
Chr6:6q12		 pathogenic|likely pathogenic
NM_001142800.2(EYS):c.8815T>C (p.Cys2939Arg) single nucleotide variant Retinitis pigmentosa 25 [RCV001376279] Chr6:63721216 [GRCh38]
Chr6:64431112 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001142800.2(EYS):c.9428_9429dup (p.Thr3144fs) duplication Retinitis pigmentosa 25 [RCV001376443]|not provided [RCV001865900]|not specified [RCV003230668] Chr6:63720601..63720602 [GRCh38]
Chr6:64430497..64430498 [GRCh37]
Chr6:6q12		 likely pathogenic|uncertain significance
NM_001142800.2(EYS):c.9051C>T (p.Thr3017=) single nucleotide variant not provided [RCV001433712] Chr6:63720980 [GRCh38]
Chr6:64430876 [GRCh37]
Chr6:6q12		 likely benign
NM_001142800.2(EYS):c.9202G>C (p.Glu3068Gln) single nucleotide variant Retinitis pigmentosa 25 [RCV001830286]|not provided [RCV001315052] Chr6:63720829 [GRCh38]
Chr6:64430725 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001142800.2(EYS):c.9420A>C (p.Gln3140His) single nucleotide variant Retinitis pigmentosa 25 [RCV001826082]|not provided [RCV001369866] Chr6:63720611 [GRCh38]
Chr6:64430507 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001142800.2(EYS):c.8319C>T (p.Leu2773=) single nucleotide variant not provided [RCV001397303] Chr6:63721712 [GRCh38]
Chr6:64431608 [GRCh37]
Chr6:6q12		 likely benign
NM_001142800.2(EYS):c.8816G>A (p.Cys2939Tyr) single nucleotide variant Retinitis pigmentosa 25 [RCV001376526]|not provided [RCV001343506] Chr6:63721215 [GRCh38]
Chr6:64431111 [GRCh37]
Chr6:6q12		 uncertain significance
NC_000006.11:g.(?_64413426)_(64454916_?)dup duplication not provided [RCV001364848] Chr6:64413426..64454916 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001142800.2(EYS):c.8248A>T (p.Ile2750Phe) single nucleotide variant not provided [RCV001346653] Chr6:63721783 [GRCh38]
Chr6:64431679 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001142800.2(EYS):c.8396T>C (p.Leu2799Pro) single nucleotide variant Autosomal recessive retinitis pigmentosa [RCV001278452] Chr6:63721635 [GRCh38]
Chr6:64431531 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001142800.2(EYS):c.8634C>T (p.Ala2878=) single nucleotide variant Autosomal recessive retinitis pigmentosa [RCV001278449]|not provided [RCV002069427] Chr6:63721397 [GRCh38]
Chr6:64431293 [GRCh37]
Chr6:6q12		 likely benign|uncertain significance
NM_001142800.2(EYS):c.9272A>C (p.Glu3091Ala) single nucleotide variant not provided [RCV001342586] Chr6:63720759 [GRCh38]
Chr6:64430655 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001142800.2(EYS):c.9073G>A (p.Gly3025Arg) single nucleotide variant not provided [RCV001324367] Chr6:63720958 [GRCh38]
Chr6:64430854 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001142800.2(EYS):c.8441C>T (p.Ser2814Phe) single nucleotide variant not provided [RCV001316140] Chr6:63721590 [GRCh38]
Chr6:64431486 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001142800.2(EYS):c.8793A>G (p.Gln2931=) single nucleotide variant Retinitis pigmentosa 25 [RCV001826049]|not provided [RCV001366322] Chr6:63721238 [GRCh38]
Chr6:64431134 [GRCh37]
Chr6:6q12		 likely benign|uncertain significance
NM_001142800.2(EYS):c.8791C>G (p.Gln2931Glu) single nucleotide variant Retinitis pigmentosa 25 [RCV001830373]|not provided [RCV001325470] Chr6:63721240 [GRCh38]
Chr6:64431136 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001142800.2(EYS):c.9276T>C (p.Tyr3092=) single nucleotide variant not provided [RCV001396069] Chr6:63720755 [GRCh38]
Chr6:64430651 [GRCh37]
Chr6:6q12		 likely benign
NM_001142800.2(EYS):c.9263G>A (p.Gly3088Glu) single nucleotide variant Inborn genetic diseases [RCV004619598]|Retinitis pigmentosa 25 [RCV001835405]|not provided [RCV001297137] Chr6:63720768 [GRCh38]
Chr6:64430664 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001142800.2(EYS):c.9101A>G (p.Tyr3034Cys) single nucleotide variant Retinitis pigmentosa 25 [RCV001831271]|not provided [RCV001366814] Chr6:63720930 [GRCh38]
Chr6:64430826 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001142800.2(EYS):c.8893A>G (p.Ile2965Val) single nucleotide variant Autosomal recessive retinitis pigmentosa [RCV001278445]|not provided [RCV001880262] Chr6:63721138 [GRCh38]
Chr6:64431034 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001142800.2(EYS):c.8873A>G (p.Lys2958Arg) single nucleotide variant Autosomal recessive retinitis pigmentosa [RCV001278446]|not provided [RCV001880263] Chr6:63721158 [GRCh38]
Chr6:64431054 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001142800.2(EYS):c.9201C>T (p.Ser3067=) single nucleotide variant not provided [RCV001396238] Chr6:63720830 [GRCh38]
Chr6:64430726 [GRCh37]
Chr6:6q12		 likely benign
NM_001142800.2(EYS):c.9300T>G (p.Thr3100=) single nucleotide variant not provided [RCV001412882] Chr6:63720731 [GRCh38]
Chr6:64430627 [GRCh37]
Chr6:6q12		 likely benign
NM_001142800.2(EYS):c.9060A>G (p.Ile3020Met) single nucleotide variant Retinitis pigmentosa 25 [RCV001836356]|not provided [RCV001351656] Chr6:63720971 [GRCh38]
Chr6:64430867 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001142800.2(EYS):c.8611G>A (p.Val2871Ile) single nucleotide variant Retinitis pigmentosa 25 [RCV001825997]|not provided [RCV001359617] Chr6:63721420 [GRCh38]
Chr6:64431316 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001142800.2(EYS):c.8868del (p.Ala2957fs) deletion Retinal dystrophy [RCV003888088]|Retinitis pigmentosa 25 [RCV004570971]|not provided [RCV001389335] Chr6:63721163 [GRCh38]
Chr6:64431059 [GRCh37]
Chr6:6q12		 pathogenic|likely pathogenic
NM_001142800.2(EYS):c.9366A>G (p.Lys3122=) single nucleotide variant not provided [RCV001473105] Chr6:63720665 [GRCh38]
Chr6:64430561 [GRCh37]
Chr6:6q12		 likely benign
NM_001142800.2(EYS):c.8670T>A (p.Cys2890Ter) single nucleotide variant not provided [RCV001380308] Chr6:63721361 [GRCh38]
Chr6:64431257 [GRCh37]
Chr6:6q12		 pathogenic
NM_001142800.2(EYS):c.8865A>G (p.Ser2955=) single nucleotide variant not provided [RCV001499453] Chr6:63721166 [GRCh38]
Chr6:64431062 [GRCh37]
Chr6:6q12		 likely benign
NM_001142800.2(EYS):c.8424C>T (p.Ala2808=) single nucleotide variant not provided [RCV001417210] Chr6:63721607 [GRCh38]
Chr6:64431503 [GRCh37]
Chr6:6q12		 likely benign
NM_001142800.2(EYS):c.8828G>A (p.Trp2943Ter) single nucleotide variant not provided [RCV001384837] Chr6:63721203 [GRCh38]
Chr6:64431099 [GRCh37]
Chr6:6q12		 pathogenic
NM_001142800.2(EYS):c.8343T>C (p.Ser2781=) single nucleotide variant not provided [RCV001500260] Chr6:63721688 [GRCh38]
Chr6:64431584 [GRCh37]
Chr6:6q12		 likely benign
NM_001142800.2(EYS):c.9093T>C (p.Pro3031=) single nucleotide variant not provided [RCV001496886] Chr6:63720938 [GRCh38]
Chr6:64430834 [GRCh37]
Chr6:6q12		 likely benign
NM_001142800.2(EYS):c.9408T>C (p.Asp3136=) single nucleotide variant not provided [RCV001468256] Chr6:63720623 [GRCh38]
Chr6:64430519 [GRCh37]
Chr6:6q12		 likely benign
NM_001142800.2(EYS):c.9378A>T (p.Leu3126=) single nucleotide variant not provided [RCV001437354] Chr6:63720653 [GRCh38]
Chr6:64430549 [GRCh37]
Chr6:6q12		 likely benign
NM_001142800.2(EYS):c.9207T>C (p.Asp3069=) single nucleotide variant not provided [RCV001453633] Chr6:63720824 [GRCh38]
Chr6:64430720 [GRCh37]
Chr6:6q12		 likely benign
NM_001142800.2(EYS):c.8262T>C (p.Asn2754=) single nucleotide variant not provided [RCV001457044] Chr6:63721769 [GRCh38]
Chr6:64431665 [GRCh37]
Chr6:6q12		 likely benign
NM_001142800.2(EYS):c.8805C>T (p.Tyr2935=) single nucleotide variant not provided [RCV001470822] Chr6:63721226 [GRCh38]
Chr6:64431122 [GRCh37]
Chr6:6q12		 likely benign
NM_001142800.2(EYS):c.9396C>T (p.Tyr3132=) single nucleotide variant not provided [RCV001470894] Chr6:63720635 [GRCh38]
Chr6:64430531 [GRCh37]
Chr6:6q12		 likely benign
NM_001142800.2(EYS):c.8596A>T (p.Lys2866Ter) single nucleotide variant not provided [RCV001384185] Chr6:63721435 [GRCh38]
Chr6:64431331 [GRCh37]
Chr6:6q12		 pathogenic
NM_001142800.2(EYS):c.8646C>T (p.Asn2882=) single nucleotide variant not provided [RCV001492099] Chr6:63721385 [GRCh38]
Chr6:64431281 [GRCh37]
Chr6:6q12		 likely benign
NM_001142800.2(EYS):c.8625T>C (p.Asp2875=) single nucleotide variant not provided [RCV001394055] Chr6:63721406 [GRCh38]
Chr6:64431302 [GRCh37]
Chr6:6q12		 likely benign
NM_001142800.2(EYS):c.9019_9307delinsTTTTTTTAAAATTTTTTTTAAAATTGGT (p.Asp3007_Ile3103delinsPhePheTer) indel not provided [RCV001382149] Chr6:63720724..63721012 [GRCh38]
Chr6:64430620..64430908 [GRCh37]
Chr6:6q12		 pathogenic
NM_001142800.2(EYS):c.8658T>C (p.Asn2886=) single nucleotide variant not provided [RCV001432611] Chr6:63721373 [GRCh38]
Chr6:64431269 [GRCh37]
Chr6:6q12		 likely benign
NM_001142800.2(EYS):c.8676A>C (p.Val2892=) single nucleotide variant not provided [RCV001416798] Chr6:63721355 [GRCh38]
Chr6:64431251 [GRCh37]
Chr6:6q12		 likely benign
NM_001142800.2(EYS):c.9336T>C (p.Ile3112=) single nucleotide variant not provided [RCV001411973] Chr6:63720695 [GRCh38]
Chr6:64430591 [GRCh37]
Chr6:6q12		 likely benign
NM_001142800.2(EYS):c.8679T>C (p.Asn2893=) single nucleotide variant not provided [RCV001428879] Chr6:63721352 [GRCh38]
Chr6:64431248 [GRCh37]
Chr6:6q12		 likely benign
NM_001142800.2(EYS):c.8556C>T (p.Ile2852=) single nucleotide variant not provided [RCV001449079] Chr6:63721475 [GRCh38]
Chr6:64431371 [GRCh37]
Chr6:6q12		 likely benign
NM_001142800.2(EYS):c.8739T>C (p.Ser2913=) single nucleotide variant not provided [RCV001449502] Chr6:63721292 [GRCh38]
Chr6:64431188 [GRCh37]
Chr6:6q12		 likely benign
NM_001142800.2(EYS):c.8917A>C (p.Arg2973=) single nucleotide variant Retinitis pigmentosa 25 [RCV001831430]|not provided [RCV001403132] Chr6:63721114 [GRCh38]
Chr6:64431010 [GRCh37]
Chr6:6q12		 likely benign
NM_001142800.2(EYS):c.9084C>T (p.Ile3028=) single nucleotide variant not provided [RCV001440135] Chr6:63720947 [GRCh38]
Chr6:64430843 [GRCh37]
Chr6:6q12		 likely benign
NM_001142800.2(EYS):c.8928C>T (p.Asn2976=) single nucleotide variant not provided [RCV001408067] Chr6:63721103 [GRCh38]
Chr6:64430999 [GRCh37]
Chr6:6q12		 likely benign
NM_001142800.2(EYS):c.8543del (p.Ile2848fs) deletion Retinitis pigmentosa 25 [RCV003463036]|not provided [RCV001390360] Chr6:63721488 [GRCh38]
Chr6:64431384 [GRCh37]
Chr6:6q12		 pathogenic|likely pathogenic
NM_001142800.2(EYS):c.8577A>G (p.Gln2859=) single nucleotide variant not provided [RCV001431484] Chr6:63721454 [GRCh38]
Chr6:64431350 [GRCh37]
Chr6:6q12		 likely benign
NM_001142800.2(EYS):c.9285G>A (p.Lys3095=) single nucleotide variant not provided [RCV001419465] Chr6:63720746 [GRCh38]
Chr6:64430642 [GRCh37]
Chr6:6q12		 likely benign
NM_001142800.2(EYS):c.8858del (p.Ser2953fs) deletion not provided [RCV001381765] Chr6:63721173 [GRCh38]
Chr6:64431069 [GRCh37]
Chr6:6q12		 pathogenic
NM_001142800.2(EYS):c.9138T>C (p.His3046=) single nucleotide variant not provided [RCV001425792] Chr6:63720893 [GRCh38]
Chr6:64430789 [GRCh37]
Chr6:6q12		 likely benign
NM_001142800.2(EYS):c.8773_8852del (p.Ser2925fs) deletion not provided [RCV001387813] Chr6:63721179..63721258 [GRCh38]
Chr6:64431075..64431154 [GRCh37]
Chr6:6q12		 pathogenic
NM_001142800.2(EYS):c.9294C>T (p.Ile3098=) single nucleotide variant not provided [RCV001408846] Chr6:63720737 [GRCh38]
Chr6:64430633 [GRCh37]
Chr6:6q12		 likely benign
NM_001142800.2(EYS):c.8238T>C (p.Asp2746=) single nucleotide variant not provided [RCV001427511] Chr6:63721793 [GRCh38]
Chr6:64431689 [GRCh37]
Chr6:6q12		 likely benign
NM_001142800.2(EYS):c.9099C>T (p.Ser3033=) single nucleotide variant not provided [RCV001394295] Chr6:63720932 [GRCh38]
Chr6:64430828 [GRCh37]
Chr6:6q12		 likely benign
NM_001142800.2(EYS):c.9354T>C (p.Phe3118=) single nucleotide variant not provided [RCV001411793] Chr6:63720677 [GRCh38]
Chr6:64430573 [GRCh37]
Chr6:6q12		 likely benign
NM_001142800.2(EYS):c.8310A>G (p.Leu2770=) single nucleotide variant not provided [RCV001472660] Chr6:63721721 [GRCh38]
Chr6:64431617 [GRCh37]
Chr6:6q12		 likely benign
NM_001142800.2(EYS):c.8583T>C (p.Thr2861=) single nucleotide variant not provided [RCV001490287] Chr6:63721448 [GRCh38]
Chr6:64431344 [GRCh37]
Chr6:6q12		 likely benign
NM_001142800.2(EYS):c.9198T>C (p.Leu3066=) single nucleotide variant not provided [RCV001452145] Chr6:63720833 [GRCh38]
Chr6:64430729 [GRCh37]
Chr6:6q12		 likely benign
NM_001142800.2(EYS):c.9399T>C (p.Asn3133=) single nucleotide variant not provided [RCV001478479] Chr6:63720632 [GRCh38]
Chr6:64430528 [GRCh37]
Chr6:6q12		 likely benign
NM_001142800.2(EYS):c.8234-4G>A single nucleotide variant not provided [RCV001464303] Chr6:63721801 [GRCh38]
Chr6:64431697 [GRCh37]
Chr6:6q12		 likely benign
NM_001142800.2(EYS):c.9114A>T (p.Thr3038=) single nucleotide variant not provided [RCV001460178] Chr6:63720917 [GRCh38]
Chr6:64430813 [GRCh37]
Chr6:6q12		 likely benign
NM_001142800.2(EYS):c.9327T>C (p.Val3109=) single nucleotide variant not provided [RCV001468560] Chr6:63720704 [GRCh38]
Chr6:64430600 [GRCh37]
Chr6:6q12		 likely benign
NM_001142800.2(EYS):c.8334A>C (p.Ile2778=) single nucleotide variant not provided [RCV001417255] Chr6:63721697 [GRCh38]
Chr6:64431593 [GRCh37]
Chr6:6q12		 likely benign
NM_001142800.2(EYS):c.8355A>T (p.Ile2785=) single nucleotide variant not provided [RCV001506776] Chr6:63721676 [GRCh38]
Chr6:64431572 [GRCh37]
Chr6:6q12		 likely benign
NM_001142800.2(EYS):c.8523T>C (p.Pro2841=) single nucleotide variant not provided [RCV001480337] Chr6:63721508 [GRCh38]
Chr6:64431404 [GRCh37]
Chr6:6q12		 likely benign
NM_001142800.2(EYS):c.8661A>T (p.Gly2887=) single nucleotide variant not provided [RCV001400324] Chr6:63721370 [GRCh38]
Chr6:64431266 [GRCh37]
Chr6:6q12		 likely benign
NM_001142800.2(EYS):c.8781T>C (p.Cys2927=) single nucleotide variant not provided [RCV001426293] Chr6:63721250 [GRCh38]
Chr6:64431146 [GRCh37]
Chr6:6q12		 likely benign
NM_001142800.2(EYS):c.9423T>C (p.Asn3141=) single nucleotide variant not provided [RCV001462301] Chr6:63720608 [GRCh38]
Chr6:64430504 [GRCh37]
Chr6:6q12		 likely benign
NM_001142800.2(EYS):c.8397A>G (p.Leu2799=) single nucleotide variant not provided [RCV001489497] Chr6:63721634 [GRCh38]
Chr6:64431530 [GRCh37]
Chr6:6q12		 likely benign
NM_001142800.2(EYS):c.8412A>C (p.Val2804=) single nucleotide variant not provided [RCV001466929] Chr6:63721619 [GRCh38]
Chr6:64431515 [GRCh37]
Chr6:6q12		 likely benign
NM_001142800.2(EYS):c.8628dup (p.Thr2877fs) duplication Retinitis pigmentosa [RCV002238596] Chr6:63721402..63721403 [GRCh38]
Chr6:64431298..64431299 [GRCh37]
Chr6:6q12		 likely pathogenic
NM_001142800.2(EYS):c.8860_8865del (p.Phe2954_Ser2955del) deletion not provided [RCV002024941] Chr6:63721166..63721171 [GRCh38]
Chr6:64431062..64431067 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001142800.2(EYS):c.9173C>G (p.Ala3058Gly) single nucleotide variant not provided [RCV002008765] Chr6:63720858 [GRCh38]
Chr6:64430754 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001142800.2(EYS):c.8689T>C (p.Phe2897Leu) single nucleotide variant not provided [RCV001914439] Chr6:63721342 [GRCh38]
Chr6:64431238 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001142800.2(EYS):c.8947T>G (p.Ser2983Ala) single nucleotide variant not provided [RCV001984536] Chr6:63721084 [GRCh38]
Chr6:64430980 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001142800.2(EYS):c.9285_9286del (p.Lys3095fs) deletion not provided [RCV001896099] Chr6:63720745..63720746 [GRCh38]
Chr6:64430641..64430642 [GRCh37]
Chr6:6q12		 pathogenic
NM_001142800.2(EYS):c.8501C>T (p.Pro2834Leu) single nucleotide variant not provided [RCV001874966] Chr6:63721530 [GRCh38]
Chr6:64431426 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001142800.2(EYS):c.9329G>A (p.Gly3110Asp) single nucleotide variant not provided [RCV002023734] Chr6:63720702 [GRCh38]
Chr6:64430598 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001142800.2(EYS):c.9402_9403insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGAAGGATACAATGTT (p.Tyr3135fs) insertion not provided [RCV001946644] Chr6:63720628..63720629 [GRCh38]
Chr6:64430524..64430525 [GRCh37]
Chr6:6q12		 pathogenic
NM_001142800.2(EYS):c.8707C>T (p.Pro2903Ser) single nucleotide variant not provided [RCV002001498] Chr6:63721324 [GRCh38]
Chr6:64431220 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001142800.2(EYS):c.8678dup (p.Asn2893fs) duplication not provided [RCV002004745] Chr6:63721352..63721353 [GRCh38]
Chr6:64431248..64431249 [GRCh37]
Chr6:6q12		 pathogenic
NM_001142800.2(EYS):c.8916T>G (p.Tyr2972Ter) single nucleotide variant not provided [RCV001949382] Chr6:63721115 [GRCh38]
Chr6:64431011 [GRCh37]
Chr6:6q12		 pathogenic
NM_001142800.2(EYS):c.8534A>C (p.Gln2845Pro) single nucleotide variant not provided [RCV001891267] Chr6:63721497 [GRCh38]
Chr6:64431393 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001142800.2(EYS):c.8751G>C (p.Leu2917Phe) single nucleotide variant not provided [RCV001908195] Chr6:63721280 [GRCh38]
Chr6:64431176 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001142800.2(EYS):c.9080G>A (p.Arg3027Lys) single nucleotide variant not provided [RCV002044368] Chr6:63720951 [GRCh38]
Chr6:64430847 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001142800.2(EYS):c.8616_8617del (p.Asp2873fs) deletion Retinitis pigmentosa 25 [RCV003389504]|not provided [RCV001987418] Chr6:63721414..63721415 [GRCh38]
Chr6:64431310..64431311 [GRCh37]
Chr6:6q12		 pathogenic|likely pathogenic
NM_001142800.2(EYS):c.9372T>G (p.Ile3124Met) single nucleotide variant not provided [RCV002021416] Chr6:63720659 [GRCh38]
Chr6:64430555 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001142800.2(EYS):c.8327dup (p.Thr2777fs) duplication not provided [RCV002007363] Chr6:63721703..63721704 [GRCh38]
Chr6:64431599..64431600 [GRCh37]
Chr6:6q12		 pathogenic
NM_001142800.2(EYS):c.8692del (p.Ser2898fs) deletion not provided [RCV002007170] Chr6:63721339 [GRCh38]
Chr6:64431235 [GRCh37]
Chr6:6q12		 pathogenic
NM_001142800.2(EYS):c.9019G>T (p.Asp3007Tyr) single nucleotide variant Retinitis pigmentosa 25 [RCV002246649]|Retinitis pigmentosa [RCV002509739]|not provided [RCV002042503] Chr6:63721012 [GRCh38]
Chr6:64430908 [GRCh37]
Chr6:6q12		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_001142800.2(EYS):c.9059dup (p.Ala3021fs) duplication not provided [RCV001889333] Chr6:63720971..63720972 [GRCh38]
Chr6:64430867..64430868 [GRCh37]
Chr6:6q12		 pathogenic
NM_001142800.2(EYS):c.9354del (p.Gln3119fs) deletion not provided [RCV001942243] Chr6:63720677 [GRCh38]
Chr6:64430573 [GRCh37]
Chr6:6q12		 pathogenic
NM_001142800.2(EYS):c.8543T>G (p.Ile2848Ser) single nucleotide variant not provided [RCV001940648] Chr6:63721488 [GRCh38]
Chr6:64431384 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001142800.2(EYS):c.8334_8346del (p.Asn2779fs) deletion not provided [RCV001942273] Chr6:63721685..63721697 [GRCh38]
Chr6:64431581..64431593 [GRCh37]
Chr6:6q12		 pathogenic
NM_001142800.2(EYS):c.9085T>A (p.Ser3029Thr) single nucleotide variant not provided [RCV001922223] Chr6:63720946 [GRCh38]
Chr6:64430842 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001142800.2(EYS):c.9226T>C (p.Phe3076Leu) single nucleotide variant not provided [RCV001886697] Chr6:63720805 [GRCh38]
Chr6:64430701 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001142800.2(EYS):c.9183_9185del (p.Asn3062del) deletion not provided [RCV002038129] Chr6:63720846..63720848 [GRCh38]
Chr6:64430742..64430744 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001142800.2(EYS):c.9161C>T (p.Thr3054Ile) single nucleotide variant not provided [RCV001944074] Chr6:63720870 [GRCh38]
Chr6:64430766 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001142800.2(EYS):c.9119G>A (p.Cys3040Tyr) single nucleotide variant not provided [RCV001887813] Chr6:63720912 [GRCh38]
Chr6:64430808 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001142800.2(EYS):c.8309T>C (p.Leu2770Pro) single nucleotide variant Retinitis pigmentosa 25 [RCV003471279]|not provided [RCV002038632] Chr6:63721722 [GRCh38]
Chr6:64431618 [GRCh37]
Chr6:6q12		 likely pathogenic|uncertain significance
NM_001142800.2(EYS):c.8248A>G (p.Ile2750Val) single nucleotide variant not provided [RCV001958119] Chr6:63721783 [GRCh38]
Chr6:64431679 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001142800.2(EYS):c.9159_9160del (p.Gln3053fs) deletion Retinitis pigmentosa 25 [RCV003470989]|not provided [RCV001886314] Chr6:63720871..63720872 [GRCh38]
Chr6:64430767..64430768 [GRCh37]
Chr6:6q12		 pathogenic|likely pathogenic
NM_001142800.2(EYS):c.9433T>G (p.Ter3145Glu) single nucleotide variant not provided [RCV002038387] Chr6:63720598 [GRCh38]
Chr6:64430494 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001142800.2(EYS):c.8546G>A (p.Arg2849Gln) single nucleotide variant not provided [RCV001980106] Chr6:63721485 [GRCh38]
Chr6:64431381 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001142800.2(EYS):c.9238_9239del (p.Asn3080fs) deletion Retinitis pigmentosa 25 [RCV004571551]|not provided [RCV001882132] Chr6:63720792..63720793 [GRCh38]
Chr6:64430688..64430689 [GRCh37]
Chr6:6q12		 pathogenic|likely pathogenic
NM_001142800.2(EYS):c.9070T>G (p.Leu3024Val) single nucleotide variant Inborn genetic diseases [RCV003375427]|not provided [RCV001899092] Chr6:63720961 [GRCh38]
Chr6:64430857 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001142800.2(EYS):c.8626G>A (p.Gly2876Arg) single nucleotide variant Inborn genetic diseases [RCV004045447]|not provided [RCV002014996] Chr6:63721405 [GRCh38]
Chr6:64431301 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001142800.2(EYS):c.9334A>G (p.Ile3112Val) single nucleotide variant not provided [RCV001937655] Chr6:63720697 [GRCh38]
Chr6:64430593 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001142800.2(EYS):c.9176A>G (p.Tyr3059Cys) single nucleotide variant not provided [RCV001916610] Chr6:63720855 [GRCh38]
Chr6:64430751 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001142800.2(EYS):c.8875T>C (p.Phe2959Leu) single nucleotide variant Inborn genetic diseases [RCV002554339]|not provided [RCV001918016] Chr6:63721156 [GRCh38]
Chr6:64431052 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001142800.2(EYS):c.8279G>A (p.Arg2760His) single nucleotide variant Inborn genetic diseases [RCV002545388]|not provided [RCV002047063] Chr6:63721752 [GRCh38]
Chr6:64431648 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001142800.2(EYS):c.9167_9168insTCCC (p.Lys3057fs) insertion not provided [RCV001919775] Chr6:63720863..63720864 [GRCh38]
Chr6:64430759..64430760 [GRCh37]
Chr6:6q12		 pathogenic
NM_001142800.2(EYS):c.9339dup (p.Asp3114fs) duplication not provided [RCV001921624] Chr6:63720691..63720692 [GRCh38]
Chr6:64430587..64430588 [GRCh37]
Chr6:6q12		 pathogenic
NM_001142800.2(EYS):c.8612T>C (p.Val2871Ala) single nucleotide variant not provided [RCV001916182] Chr6:63721419 [GRCh38]
Chr6:64431315 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001142800.2(EYS):c.9190_9191del (p.Leu3064fs) deletion not provided [RCV001994873] Chr6:63720840..63720841 [GRCh38]
Chr6:64430736..64430737 [GRCh37]
Chr6:6q12		 pathogenic
NM_001142800.2(EYS):c.8345C>T (p.Thr2782Ile) single nucleotide variant not provided [RCV001978651] Chr6:63721686 [GRCh38]
Chr6:64431582 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001142800.2(EYS):c.9172G>C (p.Ala3058Pro) single nucleotide variant not provided [RCV001924799] Chr6:63720859 [GRCh38]
Chr6:64430755 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001142800.2(EYS):c.8579T>A (p.Leu2860Ter) single nucleotide variant not provided [RCV001956302] Chr6:63721452 [GRCh38]
Chr6:64431348 [GRCh37]
Chr6:6q12		 pathogenic
NM_001142800.2(EYS):c.8788del (p.Asp2930fs) deletion Retinitis pigmentosa 25 [RCV004571434]|not provided [RCV001866782] Chr6:63721243 [GRCh38]
Chr6:64431139 [GRCh37]
Chr6:6q12		 pathogenic|likely pathogenic
NM_001142800.2(EYS):c.8768A>G (p.His2923Arg) single nucleotide variant not provided [RCV001923646] Chr6:63721263 [GRCh38]
Chr6:64431159 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001142800.2(EYS):c.8333T>C (p.Ile2778Thr) single nucleotide variant not provided [RCV001973615] Chr6:63721698 [GRCh38]
Chr6:64431594 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001142800.2(EYS):c.8348G>A (p.Trp2783Ter) single nucleotide variant not provided [RCV001922034] Chr6:63721683 [GRCh38]
Chr6:64431579 [GRCh37]
Chr6:6q12		 pathogenic
NM_001142800.2(EYS):c.9279T>C (p.Gly3093=) single nucleotide variant not provided [RCV001974964] Chr6:63720752 [GRCh38]
Chr6:64430648 [GRCh37]
Chr6:6q12		 likely benign|uncertain significance
NM_001142800.2(EYS):c.8516dup (p.Asn2839fs) duplication not provided [RCV001880838] Chr6:63721514..63721515 [GRCh38]
Chr6:64431410..64431411 [GRCh37]
Chr6:6q12		 pathogenic
NM_001142800.2(EYS):c.8338_8342delinsTATAAACTATAACTATAAACTATAAACTATAAACTATAAACTATAAACTATAAACTATA (p.Gly2780_Ser2781delinsTyrLysLeuTer) indel not provided [RCV001960514] Chr6:63721689..63721693 [GRCh38]
Chr6:64431585..64431589 [GRCh37]
Chr6:6q12		 pathogenic
NM_001142800.2(EYS):c.9115T>C (p.Phe3039Leu) single nucleotide variant Retinal dystrophy [RCV003888933]|not provided [RCV001960358] Chr6:63720916 [GRCh38]
Chr6:64430812 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001142800.2(EYS):c.8981T>A (p.Leu2994Gln) single nucleotide variant not provided [RCV001981314] Chr6:63721050 [GRCh38]
Chr6:64430946 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001142800.2(EYS):c.8377G>A (p.Ala2793Thr) single nucleotide variant not provided [RCV001864716] Chr6:63721654 [GRCh38]
Chr6:64431550 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001142800.2(EYS):c.9177C>G (p.Tyr3059Ter) single nucleotide variant not provided [RCV001956352] Chr6:63720854 [GRCh38]
Chr6:64430750 [GRCh37]
Chr6:6q12		 pathogenic
NM_001142800.2(EYS):c.8261A>G (p.Asn2754Ser) single nucleotide variant not provided [RCV002027211] Chr6:63721770 [GRCh38]
Chr6:64431666 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001142800.2(EYS):c.8773T>C (p.Ser2925Pro) single nucleotide variant not provided [RCV002031541] Chr6:63721258 [GRCh38]
Chr6:64431154 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001142800.2(EYS):c.9401T>C (p.Val3134Ala) single nucleotide variant not provided [RCV001923141] Chr6:63720630 [GRCh38]
Chr6:64430526 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001142800.2(EYS):c.9221A>C (p.Lys3074Thr) single nucleotide variant not provided [RCV001952601] Chr6:63720810 [GRCh38]
Chr6:64430706 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001142800.2(EYS):c.8565T>C (p.Asn2855=) single nucleotide variant not provided [RCV002110271] Chr6:63721466 [GRCh38]
Chr6:64431362 [GRCh37]
Chr6:6q12		 likely benign
NM_001142800.2(EYS):c.8295C>T (p.Asp2765=) single nucleotide variant not provided [RCV002210843] Chr6:63721736 [GRCh38]
Chr6:64431632 [GRCh37]
Chr6:6q12		 likely benign
NM_001142800.2(EYS):c.8301T>A (p.Thr2767=) single nucleotide variant not provided [RCV002072610] Chr6:63721730 [GRCh38]
Chr6:64431626 [GRCh37]
Chr6:6q12		 likely benign
NM_001142800.2(EYS):c.8943T>C (p.Thr2981=) single nucleotide variant not provided [RCV002190205] Chr6:63721088 [GRCh38]
Chr6:64430984 [GRCh37]
Chr6:6q12		 likely benign
NM_001142800.2(EYS):c.9228T>C (p.Phe3076=) single nucleotide variant not provided [RCV002071239] Chr6:63720803 [GRCh38]
Chr6:64430699 [GRCh37]
Chr6:6q12		 likely benign
NM_001142800.2(EYS):c.8346T>C (p.Thr2782=) single nucleotide variant not provided [RCV002074497] Chr6:63721685 [GRCh38]
Chr6:64431581 [GRCh37]
Chr6:6q12		 likely benign
NM_001142800.2(EYS):c.8556C>A (p.Ile2852=) single nucleotide variant not provided [RCV002209873] Chr6:63721475 [GRCh38]
Chr6:64431371 [GRCh37]
Chr6:6q12		 likely benign
NM_001142800.2(EYS):c.8821T>C (p.Leu2941=) single nucleotide variant not provided [RCV002190134] Chr6:63721210 [GRCh38]
Chr6:64431106 [GRCh37]
Chr6:6q12		 likely benign
NM_001142800.2(EYS):c.9190C>T (p.Leu3064=) single nucleotide variant not provided [RCV002169678] Chr6:63720841 [GRCh38]
Chr6:64430737 [GRCh37]
Chr6:6q12		 likely benign
NM_001142800.2(EYS):c.9369C>T (p.Asn3123=) single nucleotide variant not provided [RCV002167844] Chr6:63720662 [GRCh38]
Chr6:64430558 [GRCh37]
Chr6:6q12		 likely benign
NM_001142800.2(EYS):c.9048G>A (p.Gln3016=) single nucleotide variant not provided [RCV002127780] Chr6:63720983 [GRCh38]
Chr6:64430879 [GRCh37]
Chr6:6q12		 likely benign
NM_001142800.2(EYS):c.8871A>G (p.Ala2957=) single nucleotide variant not provided [RCV002116779] Chr6:63721160 [GRCh38]
Chr6:64431056 [GRCh37]
Chr6:6q12		 likely benign
NM_001142800.2(EYS):c.9368del (p.Asn3123fs) deletion Retinitis pigmentosa 25 [RCV002225231]|not provided [RCV003728048] Chr6:63720663 [GRCh38]
Chr6:64430559 [GRCh37]
Chr6:6q12		 pathogenic|likely pathogenic
NM_001142800.2(EYS):c.9192A>T (p.Leu3064=) single nucleotide variant not provided [RCV002195528] Chr6:63720839 [GRCh38]
Chr6:64430735 [GRCh37]
Chr6:6q12		 likely benign
NM_001142800.2(EYS):c.8234-11C>G single nucleotide variant not provided [RCV002135083] Chr6:63721808 [GRCh38]
Chr6:64431704 [GRCh37]
Chr6:6q12		 likely benign
NM_001142800.2(EYS):c.8670T>C (p.Cys2890=) single nucleotide variant not provided [RCV002196015] Chr6:63721361 [GRCh38]
Chr6:64431257 [GRCh37]
Chr6:6q12		 likely benign
NM_001142800.2(EYS):c.9078A>G (p.Glu3026=) single nucleotide variant not provided [RCV002196635] Chr6:63720953 [GRCh38]
Chr6:64430849 [GRCh37]
Chr6:6q12		 likely benign
NM_001142800.2(EYS):c.8814G>C (p.Leu2938=) single nucleotide variant not provided [RCV002087541] Chr6:63721217 [GRCh38]
Chr6:64431113 [GRCh37]
Chr6:6q12		 likely benign
NM_001142800.2(EYS):c.8379A>G (p.Ala2793=) single nucleotide variant not provided [RCV002193421] Chr6:63721652 [GRCh38]
Chr6:64431548 [GRCh37]
Chr6:6q12		 likely benign
NM_001142800.2(EYS):c.8841T>C (p.Tyr2947=) single nucleotide variant not provided [RCV002152055] Chr6:63721190 [GRCh38]
Chr6:64431086 [GRCh37]
Chr6:6q12		 likely benign
NM_001142800.2(EYS):c.9345T>C (p.Val3115=) single nucleotide variant not provided [RCV002193885] Chr6:63720686 [GRCh38]
Chr6:64430582 [GRCh37]
Chr6:6q12		 likely benign
NM_001142800.2(EYS):c.8949C>T (p.Ser2983=) single nucleotide variant not provided [RCV002174574] Chr6:63721082 [GRCh38]
Chr6:64430978 [GRCh37]
Chr6:6q12		 likely benign
NM_001142800.2(EYS):c.9051C>G (p.Thr3017=) single nucleotide variant not provided [RCV002199348] Chr6:63720980 [GRCh38]
Chr6:64430876 [GRCh37]
Chr6:6q12		 likely benign
NM_001142800.2(EYS):c.9027G>C (p.Leu3009=) single nucleotide variant not provided [RCV002180886] Chr6:63721004 [GRCh38]
Chr6:64430900 [GRCh37]
Chr6:6q12		 likely benign
NM_001142800.2(EYS):c.9216A>G (p.Pro3072=) single nucleotide variant not provided [RCV002216583] Chr6:63720815 [GRCh38]
Chr6:64430711 [GRCh37]
Chr6:6q12		 likely benign
NM_001142800.2(EYS):c.9102T>C (p.Tyr3034=) single nucleotide variant not provided [RCV002081342] Chr6:63720929 [GRCh38]
Chr6:64430825 [GRCh37]
Chr6:6q12		 likely benign
NM_001142800.2(EYS):c.8445G>T (p.Leu2815=) single nucleotide variant not provided [RCV002182169] Chr6:63721586 [GRCh38]
Chr6:64431482 [GRCh37]
Chr6:6q12		 likely benign
NM_001142800.2(EYS):c.9234T>C (p.Ala3078=) single nucleotide variant not provided [RCV002160821] Chr6:63720797 [GRCh38]
Chr6:64430693 [GRCh37]
Chr6:6q12		 likely benign
NM_001142800.2(EYS):c.9405T>C (p.Tyr3135=) single nucleotide variant not provided [RCV002120638] Chr6:63720626 [GRCh38]
Chr6:64430522 [GRCh37]
Chr6:6q12		 likely benign
NM_001142800.2(EYS):c.8919A>G (p.Arg2973=) single nucleotide variant not provided [RCV002121301] Chr6:63721112 [GRCh38]
Chr6:64431008 [GRCh37]
Chr6:6q12		 likely benign
NM_001142800.2(EYS):c.8457A>G (p.Thr2819=) single nucleotide variant not provided [RCV002102088] Chr6:63721574 [GRCh38]
Chr6:64431470 [GRCh37]
Chr6:6q12		 likely benign
NM_001142800.2(EYS):c.9066T>C (p.Val3022=) single nucleotide variant not provided [RCV002180715] Chr6:63720965 [GRCh38]
Chr6:64430861 [GRCh37]
Chr6:6q12		 likely benign
NM_001142800.2(EYS):c.8748T>C (p.Cys2916=) single nucleotide variant not provided [RCV002098404] Chr6:63721283 [GRCh38]
Chr6:64431179 [GRCh37]
Chr6:6q12		 likely benign
GRCh37/hg19 6p21.1-q12(chr6:43636308-64947206)x3 copy number gain not provided [RCV002221457] Chr6:43636308..64947206 [GRCh37]
Chr6:6p21.1-q12		 likely pathogenic
NM_001142800.2(EYS):c.8305A>C (p.Ile2769Leu) single nucleotide variant not provided [RCV003117201] Chr6:63721726 [GRCh38]
Chr6:64431622 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001142800.2(EYS):c.9048G>C (p.Gln3016His) single nucleotide variant Inborn genetic diseases [RCV003242085] Chr6:63720983 [GRCh38]
Chr6:64430879 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001142800.2(EYS):c.8236G>T (p.Asp2746Tyr) single nucleotide variant Retinitis pigmentosa 25 [RCV002249943] Chr6:63721795 [GRCh38]
Chr6:64431691 [GRCh37]
Chr6:6q12		 pathogenic
NM_001142800.2(EYS):c.8844T>G (p.Cys2948Trp) single nucleotide variant not provided [RCV001772759] Chr6:63721187 [GRCh38]
Chr6:64431083 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001142800.2(EYS):c.8278C>T (p.Arg2760Cys) single nucleotide variant Retinal dystrophy [RCV003888316]|not provided [RCV001763497] Chr6:63721753 [GRCh38]
Chr6:64431649 [GRCh37]
Chr6:6q12		 likely pathogenic|uncertain significance
NM_001370348.2(PHF3):c.3610C>T (p.Arg1204Ter) single nucleotide variant Neurodevelopmental disorder [RCV002277655] Chr6:63706775 [GRCh38]
Chr6:64416665 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001142800.2(EYS):c.8541T>A (p.Cys2847Ter) single nucleotide variant Retinitis pigmentosa 25 [RCV003471307]|Retinitis pigmentosa [RCV002282842] Chr6:63721490 [GRCh38]
Chr6:64431386 [GRCh37]
Chr6:6q12		 likely pathogenic
NM_001370348.2(PHF3):c.2575A>G (p.Met859Val) single nucleotide variant not specified [RCV004163639] Chr6:63694659 [GRCh38]
Chr6:64404549 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001142800.2(EYS):c.9166_9167delinsCCTCCC (p.Ile3056fs) indel Retinitis pigmentosa 25 [RCV002471379] Chr6:63720864..63720865 [GRCh38]
Chr6:64430760..64430761 [GRCh37]
Chr6:6q12		 pathogenic
NM_001142800.2(EYS):c.8780_8783del (p.Cys2927fs) deletion Retinitis pigmentosa 25 [RCV002444355] Chr6:63721248..63721251 [GRCh38]
Chr6:64431144..64431147 [GRCh37]
Chr6:6q12		 likely pathogenic
NM_001142800.2(EYS):c.9197T>C (p.Leu3066Pro) single nucleotide variant Retinitis pigmentosa 25 [RCV002444356] Chr6:63720834 [GRCh38]
Chr6:64430730 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001142800.2(EYS):c.8784A>G (p.Ile2928Met) single nucleotide variant not provided [RCV002301192] Chr6:63721247 [GRCh38]
Chr6:64431143 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001142800.2(EYS):c.8500C>T (p.Pro2834Ser) single nucleotide variant Inborn genetic diseases [RCV002752968] Chr6:63721531 [GRCh38]
Chr6:64431427 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001142800.2(EYS):c.8564A>G (p.Asn2855Ser) single nucleotide variant not provided [RCV002991604] Chr6:63721467 [GRCh38]
Chr6:64431363 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001142800.2(EYS):c.9249C>T (p.Gly3083=) single nucleotide variant not provided [RCV002857867] Chr6:63720782 [GRCh38]
Chr6:64430678 [GRCh37]
Chr6:6q12		 likely benign
NM_001370348.2(PHF3):c.1685A>G (p.Asn562Ser) single nucleotide variant not specified [RCV004142767] Chr6:63685407 [GRCh38]
Chr6:64395308 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001142800.2(EYS):c.8964C>A (p.Thr2988=) single nucleotide variant not provided [RCV002862790] Chr6:63721067 [GRCh38]
Chr6:64430963 [GRCh37]
Chr6:6q12		 likely benign
NM_001370348.2(PHF3):c.5998A>G (p.Lys2000Glu) single nucleotide variant not specified [RCV004126514] Chr6:63713586 [GRCh38]
Chr6:64423482 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001142800.2(EYS):c.9105C>T (p.Asn3035=) single nucleotide variant not provided [RCV002690265] Chr6:63720926 [GRCh38]
Chr6:64430822 [GRCh37]
Chr6:6q12		 likely benign
NM_001142800.2(EYS):c.8899T>C (p.Tyr2967His) single nucleotide variant not provided [RCV002780109] Chr6:63721132 [GRCh38]
Chr6:64431028 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001370348.2(PHF3):c.1909A>G (p.Met637Val) single nucleotide variant not specified [RCV004223725] Chr6:63685631 [GRCh38]
Chr6:64395532 [GRCh37]
Chr6:6q12		 likely benign
NM_001142800.2(EYS):c.8883T>A (p.Gly2961=) single nucleotide variant not provided [RCV002880576] Chr6:63721148 [GRCh38]
Chr6:64431044 [GRCh37]
Chr6:6q12		 likely benign
NM_001370348.2(PHF3):c.1459A>G (p.Lys487Glu) single nucleotide variant not specified [RCV004090017] Chr6:63685181 [GRCh38]
Chr6:64395082 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001142800.2(EYS):c.8817T>C (p.Cys2939=) single nucleotide variant not provided [RCV002975560] Chr6:63721214 [GRCh38]
Chr6:64431110 [GRCh37]
Chr6:6q12		 likely benign
NM_001142800.2(EYS):c.9101A>C (p.Tyr3034Ser) single nucleotide variant Inborn genetic diseases [RCV002840877] Chr6:63720930 [GRCh38]
Chr6:64430826 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001142800.2(EYS):c.8411T>C (p.Val2804Ala) single nucleotide variant not provided [RCV002750529] Chr6:63721620 [GRCh38]
Chr6:64431516 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001142800.2(EYS):c.8615G>A (p.Gly2872Asp) single nucleotide variant not provided [RCV003013282] Chr6:63721416 [GRCh38]
Chr6:64431312 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001142800.2(EYS):c.8831T>C (p.Val2944Ala) single nucleotide variant not provided [RCV002838564] Chr6:63721200 [GRCh38]
Chr6:64431096 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001142800.2(EYS):c.9188G>A (p.Ser3063Asn) single nucleotide variant not provided [RCV002816165] Chr6:63720843 [GRCh38]
Chr6:64430739 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001142800.2(EYS):c.8984T>C (p.Ile2995Thr) single nucleotide variant not provided [RCV003017050] Chr6:63721047 [GRCh38]
Chr6:64430943 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001370348.2(PHF3):c.5630G>T (p.Arg1877Met) single nucleotide variant not specified [RCV004235552] Chr6:63713218 [GRCh38]
Chr6:64423114 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001142800.2(EYS):c.8403G>C (p.Gly2801=) single nucleotide variant not provided [RCV003073787] Chr6:63721628 [GRCh38]
Chr6:64431524 [GRCh37]
Chr6:6q12		 likely benign
NM_001370348.2(PHF3):c.4464G>A (p.Met1488Ile) single nucleotide variant not specified [RCV004196561] Chr6:63712052 [GRCh38]
Chr6:64421948 [GRCh37]
Chr6:6q12		 likely benign
NM_001142800.2(EYS):c.9166A>G (p.Ile3056Val) single nucleotide variant not provided [RCV003074796] Chr6:63720865 [GRCh38]
Chr6:64430761 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001142800.2(EYS):c.9288A>G (p.Val3096=) single nucleotide variant not provided [RCV002639423] Chr6:63720743 [GRCh38]
Chr6:64430639 [GRCh37]
Chr6:6q12		 likely benign
NM_001142800.2(EYS):c.8342G>A (p.Ser2781Asn) single nucleotide variant not provided [RCV002593041] Chr6:63721689 [GRCh38]
Chr6:64431585 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001142800.2(EYS):c.8642A>G (p.Tyr2881Cys) single nucleotide variant not provided [RCV002735368] Chr6:63721389 [GRCh38]
Chr6:64431285 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001142800.2(EYS):c.8403G>T (p.Gly2801=) single nucleotide variant not provided [RCV003038920] Chr6:63721628 [GRCh38]
Chr6:64431524 [GRCh37]
Chr6:6q12		 likely benign
NM_001142800.2(EYS):c.9152A>G (p.Gln3051Arg) single nucleotide variant not provided [RCV002638059] Chr6:63720879 [GRCh38]
Chr6:64430775 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001370348.2(PHF3):c.917A>C (p.Glu306Ala) single nucleotide variant not specified [RCV004158640] Chr6:63684639 [GRCh38]
Chr6:64394540 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001142800.2(EYS):c.9182_9185del (p.Asn3061fs) microsatellite Retinitis pigmentosa 25 [RCV004572721]|Retinitis pigmentosa [RCV003235758]|not provided [RCV003037173] Chr6:63720846..63720849 [GRCh38]
Chr6:64430742..64430745 [GRCh37]
Chr6:6q12		 pathogenic
NM_001142800.2(EYS):c.8933A>C (p.Gln2978Pro) single nucleotide variant not provided [RCV003078642] Chr6:63721098 [GRCh38]
Chr6:64430994 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001142800.2(EYS):c.8650T>A (p.Cys2884Ser) single nucleotide variant not provided [RCV003055460] Chr6:63721381 [GRCh38]
Chr6:64431277 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001142800.2(EYS):c.8587T>C (p.Phe2863Leu) single nucleotide variant Inborn genetic diseases [RCV003077448]|not provided [RCV003085501] Chr6:63721444 [GRCh38]
Chr6:64431340 [GRCh37]
Chr6:6q12		 likely benign|uncertain significance
NM_001370348.2(PHF3):c.2728G>A (p.Val910Met) single nucleotide variant not specified [RCV004172831] Chr6:63698270 [GRCh38]
Chr6:64408160 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001142800.2(EYS):c.9045T>C (p.Asn3015=) single nucleotide variant not provided [RCV002923048] Chr6:63720986 [GRCh38]
Chr6:64430882 [GRCh37]
Chr6:6q12		 likely benign
NM_001142800.2(EYS):c.8349G>A (p.Trp2783Ter) single nucleotide variant not provided [RCV003037174] Chr6:63721682 [GRCh38]
Chr6:64431578 [GRCh37]
Chr6:6q12		 pathogenic
NM_001142800.2(EYS):c.8327T>A (p.Val2776Glu) single nucleotide variant not provided [RCV003077652] Chr6:63721704 [GRCh38]
Chr6:64431600 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001370348.2(PHF3):c.2405G>A (p.Cys802Tyr) single nucleotide variant not specified [RCV004210883] Chr6:63691952 [GRCh38]
Chr6:64401842 [GRCh37]
Chr6:6q12		 likely benign
NM_001142800.2(EYS):c.8478A>G (p.Val2826=) single nucleotide variant not provided [RCV002910130] Chr6:63721553 [GRCh38]
Chr6:64431449 [GRCh37]
Chr6:6q12		 likely benign
NM_001370348.2(PHF3):c.2668G>C (p.Ala890Pro) single nucleotide variant not specified [RCV004211002] Chr6:63694752 [GRCh38]
Chr6:64404642 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001370348.2(PHF3):c.1229A>T (p.Gln410Leu) single nucleotide variant not specified [RCV004158084] Chr6:63684951 [GRCh38]
Chr6:64394852 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001142800.2(EYS):c.9180A>C (p.Ile3060=) single nucleotide variant not provided [RCV002658902] Chr6:63720851 [GRCh38]
Chr6:64430747 [GRCh37]
Chr6:6q12		 likely benign
NM_001142800.2(EYS):c.9333_9334del (p.Lys3111fs) deletion not provided [RCV002796484] Chr6:63720697..63720698 [GRCh38]
Chr6:64430593..64430594 [GRCh37]
Chr6:6q12		 pathogenic
NM_001142800.2(EYS):c.9183T>C (p.Asn3061=) single nucleotide variant not provided [RCV002999867] Chr6:63720848 [GRCh38]
Chr6:64430744 [GRCh37]
Chr6:6q12		 likely benign
NM_001142800.2(EYS):c.8370_8371del (p.Arg2790fs) microsatellite not provided [RCV002866393] Chr6:63721660..63721661 [GRCh38]
Chr6:64431556..64431557 [GRCh37]
Chr6:6q12		 pathogenic
NM_001142800.2(EYS):c.8544C>A (p.Ile2848=) single nucleotide variant not provided [RCV002844030] Chr6:63721487 [GRCh38]
Chr6:64431383 [GRCh37]
Chr6:6q12		 likely benign
NM_001142800.2(EYS):c.8788G>A (p.Asp2930Asn) single nucleotide variant not provided [RCV003053288] Chr6:63721243 [GRCh38]
Chr6:64431139 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001142800.2(EYS):c.9237A>C (p.Leu3079=) single nucleotide variant not provided [RCV002846988] Chr6:63720794 [GRCh38]
Chr6:64430690 [GRCh37]
Chr6:6q12		 likely benign
NM_001370348.2(PHF3):c.4654G>A (p.Ala1552Thr) single nucleotide variant not specified [RCV004112160] Chr6:63712242 [GRCh38]
Chr6:64422138 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001142800.2(EYS):c.9432A>G (p.Thr3144=) single nucleotide variant Retinal dystrophy [RCV003889235]|not provided [RCV003080385] Chr6:63720599 [GRCh38]
Chr6:64430495 [GRCh37]
Chr6:6q12		 likely pathogenic|uncertain significance
NM_001142800.2(EYS):c.8704T>C (p.Leu2902=) single nucleotide variant not provided [RCV002736387] Chr6:63721327 [GRCh38]
Chr6:64431223 [GRCh37]
Chr6:6q12		 likely benign
NM_001370348.2(PHF3):c.5755G>A (p.Asp1919Asn) single nucleotide variant not specified [RCV004163245] Chr6:63713343 [GRCh38]
Chr6:64423239 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001142800.2(EYS):c.8812C>T (p.Leu2938=) single nucleotide variant not provided [RCV002780871] Chr6:63721219 [GRCh38]
Chr6:64431115 [GRCh37]
Chr6:6q12		 likely benign
NM_001370348.2(PHF3):c.3995C>G (p.Pro1332Arg) single nucleotide variant not specified [RCV004153576] Chr6:63711360 [GRCh38]
Chr6:64421256 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001142800.2(EYS):c.8592A>G (p.Gly2864=) single nucleotide variant not provided [RCV003036631] Chr6:63721439 [GRCh38]
Chr6:64431335 [GRCh37]
Chr6:6q12		 likely benign
NM_001142800.2(EYS):c.9346G>C (p.Val3116Leu) single nucleotide variant not provided [RCV003079798] Chr6:63720685 [GRCh38]
Chr6:64430581 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001142800.2(EYS):c.9214C>A (p.Pro3072Thr) single nucleotide variant not provided [RCV002690702] Chr6:63720817 [GRCh38]
Chr6:64430713 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001142800.2(EYS):c.8593G>A (p.Ala2865Thr) single nucleotide variant Inborn genetic diseases [RCV002845278] Chr6:63721438 [GRCh38]
Chr6:64431334 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001370348.2(PHF3):c.312A>T (p.Glu104Asp) single nucleotide variant not specified [RCV004082423] Chr6:63680067 [GRCh38]
Chr6:64389968 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001370348.2(PHF3):c.4877A>G (p.Asp1626Gly) single nucleotide variant not specified [RCV004246533] Chr6:63712465 [GRCh38]
Chr6:64422361 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001142800.2(EYS):c.8980C>G (p.Leu2994Val) single nucleotide variant not provided [RCV003080629] Chr6:63721051 [GRCh38]
Chr6:64430947 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001370348.2(PHF3):c.3041G>A (p.Ser1014Asn) single nucleotide variant not specified [RCV004174382] Chr6:63700408 [GRCh38]
Chr6:64410298 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001142800.2(EYS):c.8325_8326del (p.Lys2775fs) deletion not provided [RCV003042329] Chr6:63721705..63721706 [GRCh38]
Chr6:64431601..64431602 [GRCh37]
Chr6:6q12		 pathogenic
NM_001142800.2(EYS):c.8723A>C (p.Asn2908Thr) single nucleotide variant not provided [RCV003043488] Chr6:63721308 [GRCh38]
Chr6:64431204 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001370348.2(PHF3):c.1015G>T (p.Ala339Ser) single nucleotide variant not specified [RCV004132348] Chr6:63684737 [GRCh38]
Chr6:64394638 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001370348.2(PHF3):c.5020C>T (p.Arg1674Trp) single nucleotide variant not specified [RCV004199650] Chr6:63712608 [GRCh38]
Chr6:64422504 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001142800.2(EYS):c.9410_9415del (p.Gly3137_Asp3138del) deletion not provided [RCV002576321] Chr6:63720616..63720621 [GRCh38]
Chr6:64430512..64430517 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001370348.2(PHF3):c.5303G>T (p.Gly1768Val) single nucleotide variant not specified [RCV004157420] Chr6:63712891 [GRCh38]
Chr6:64422787 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001142800.2(EYS):c.8910A>G (p.Pro2970=) single nucleotide variant not provided [RCV002575597] Chr6:63721121 [GRCh38]
Chr6:64431017 [GRCh37]
Chr6:6q12		 likely benign
NM_001370348.2(PHF3):c.5642C>A (p.Pro1881Gln) single nucleotide variant not specified [RCV004091488] Chr6:63713230 [GRCh38]
Chr6:64423126 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001142800.2(EYS):c.9141A>G (p.Val3047=) single nucleotide variant not provided [RCV002830240] Chr6:63720890 [GRCh38]
Chr6:64430786 [GRCh37]
Chr6:6q12		 likely benign
NM_001370348.2(PHF3):c.1465A>G (p.Lys489Glu) single nucleotide variant not specified [RCV004114256] Chr6:63685187 [GRCh38]
Chr6:64395088 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001142800.2(EYS):c.8663G>C (p.Gly2888Ala) single nucleotide variant not provided [RCV002711090] Chr6:63721368 [GRCh38]
Chr6:64431264 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001370348.2(PHF3):c.4162A>G (p.Thr1388Ala) single nucleotide variant not specified [RCV004164417] Chr6:63711750 [GRCh38]
Chr6:64421646 [GRCh37]
Chr6:6q12		 likely benign
NM_001142800.2(EYS):c.8283C>T (p.Tyr2761=) single nucleotide variant not provided [RCV002851755] Chr6:63721748 [GRCh38]
Chr6:64431644 [GRCh37]
Chr6:6q12		 likely benign
NM_001370348.2(PHF3):c.1214C>T (p.Ala405Val) single nucleotide variant not provided [RCV003435914]|not specified [RCV004149084] Chr6:63684936 [GRCh38]
Chr6:64394837 [GRCh37]
Chr6:6q12		 likely benign|uncertain significance
NM_001142800.2(EYS):c.8329_8332del (p.Val2776_Thr2777insTer) deletion not provided [RCV003056358] Chr6:63721699..63721702 [GRCh38]
Chr6:64431595..64431598 [GRCh37]
Chr6:6q12		 pathogenic
NM_001142800.2(EYS):c.8927A>G (p.Asn2976Ser) single nucleotide variant not provided [RCV003081873] Chr6:63721104 [GRCh38]
Chr6:64431000 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001370348.2(PHF3):c.3629A>G (p.Lys1210Arg) single nucleotide variant not specified [RCV004202621] Chr6:63706794 [GRCh38]
Chr6:64416684 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001142800.2(EYS):c.9427G>A (p.Val3143Ile) single nucleotide variant not provided [RCV002667874] Chr6:63720604 [GRCh38]
Chr6:64430500 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001142800.2(EYS):c.8400T>C (p.Asp2800=) single nucleotide variant not provided [RCV003024438] Chr6:63721631 [GRCh38]
Chr6:64431527 [GRCh37]
Chr6:6q12		 likely benign
NM_001370348.2(PHF3):c.4191C>G (p.Asp1397Glu) single nucleotide variant not specified [RCV004182725] Chr6:63711779 [GRCh38]
Chr6:64421675 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001142800.2(EYS):c.9177_9180del (p.Ala3058_Tyr3059insTer) deletion Retinitis pigmentosa 25 [RCV003464585]|not provided [RCV002699994] Chr6:63720851..63720854 [GRCh38]
Chr6:64430747..64430750 [GRCh37]
Chr6:6q12		 pathogenic|likely pathogenic
NM_001370348.2(PHF3):c.1804G>A (p.Ala602Thr) single nucleotide variant PHF3-related disorder [RCV003963773]|not specified [RCV004200613] Chr6:63685526 [GRCh38]
Chr6:64395427 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001370348.2(PHF3):c.2381A>C (p.His794Pro) single nucleotide variant not specified [RCV004168101] Chr6:63691928 [GRCh38]
Chr6:64401818 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001142800.2(EYS):c.9280A>G (p.Arg3094Gly) single nucleotide variant not provided [RCV002700738] Chr6:63720751 [GRCh38]
Chr6:64430647 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001142800.2(EYS):c.9096_9102del (p.Met3032fs) deletion Retinitis pigmentosa 25 [RCV003234802]|not provided [RCV002642360] Chr6:63720929..63720935 [GRCh38]
Chr6:64430825..64430831 [GRCh37]
Chr6:6q12		 pathogenic|likely pathogenic
NM_001142800.2(EYS):c.9389_9391del (p.Glu3130del) deletion not provided [RCV002596256] Chr6:63720640..63720642 [GRCh38]
Chr6:64430536..64430538 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001370348.2(PHF3):c.1705A>G (p.Lys569Glu) single nucleotide variant not specified [RCV004165685] Chr6:63685427 [GRCh38]
Chr6:64395328 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001370348.2(PHF3):c.4919C>T (p.Ala1640Val) single nucleotide variant not specified [RCV004080118] Chr6:63712507 [GRCh38]
Chr6:64422403 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001370348.2(PHF3):c.1952G>A (p.Gly651Asp) single nucleotide variant not specified [RCV004187503] Chr6:63685674 [GRCh38]
Chr6:64395575 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001142800.2(EYS):c.8441C>A (p.Ser2814Tyr) single nucleotide variant Inborn genetic diseases [RCV002920200] Chr6:63721590 [GRCh38]
Chr6:64431486 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001142800.2(EYS):c.9304G>A (p.Glu3102Lys) single nucleotide variant not provided [RCV003090120] Chr6:63720727 [GRCh38]
Chr6:64430623 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001142800.2(EYS):c.8423C>T (p.Ala2808Val) single nucleotide variant not provided [RCV002628344] Chr6:63721608 [GRCh38]
Chr6:64431504 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001142800.2(EYS):c.9063A>C (p.Ala3021=) single nucleotide variant not provided [RCV003044721] Chr6:63720968 [GRCh38]
Chr6:64430864 [GRCh37]
Chr6:6q12		 likely benign
NM_001142800.2(EYS):c.9252T>C (p.Ile3084=) single nucleotide variant not provided [RCV003048635] Chr6:63720779 [GRCh38]
Chr6:64430675 [GRCh37]
Chr6:6q12		 likely benign
NM_001142800.2(EYS):c.9258T>C (p.Tyr3086=) single nucleotide variant not provided [RCV002579803] Chr6:63720773 [GRCh38]
Chr6:64430669 [GRCh37]
Chr6:6q12		 likely benign
NM_001142800.2(EYS):c.8293G>A (p.Asp2765Asn) single nucleotide variant not provided [RCV002578113] Chr6:63721738 [GRCh38]
Chr6:64431634 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001370348.2(PHF3):c.3915G>A (p.Met1305Ile) single nucleotide variant not specified [RCV004132606] Chr6:63711280 [GRCh38]
Chr6:64421176 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001142800.2(EYS):c.8335A>T (p.Asn2779Tyr) single nucleotide variant not provided [RCV003029346] Chr6:63721696 [GRCh38]
Chr6:64431592 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001142800.2(EYS):c.8614G>A (p.Gly2872Ser) single nucleotide variant not provided [RCV002646959] Chr6:63721417 [GRCh38]
Chr6:64431313 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001370348.2(PHF3):c.2903C>G (p.Ser968Cys) single nucleotide variant not specified [RCV004170813] Chr6:63698526 [GRCh38]
Chr6:64408416 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001370348.2(PHF3):c.4537G>T (p.Val1513Leu) single nucleotide variant not specified [RCV004080079] Chr6:63712125 [GRCh38]
Chr6:64422021 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001142800.2(EYS):c.9300T>C (p.Thr3100=) single nucleotide variant not provided [RCV002899033] Chr6:63720731 [GRCh38]
Chr6:64430627 [GRCh37]
Chr6:6q12		 likely benign
NM_001142800.2(EYS):c.8510T>C (p.Ile2837Thr) single nucleotide variant not provided [RCV003063252] Chr6:63721521 [GRCh38]
Chr6:64431417 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001142800.2(EYS):c.8475A>T (p.Gly2825=) single nucleotide variant not provided [RCV002715890] Chr6:63721556 [GRCh38]
Chr6:64431452 [GRCh37]
Chr6:6q12		 likely benign
NM_001370348.2(PHF3):c.5452C>T (p.Pro1818Ser) single nucleotide variant not specified [RCV004104990] Chr6:63713040 [GRCh38]
Chr6:64422936 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001142800.2(EYS):c.9043_9044insTATA (p.Asn3015delinsIleTer) microsatellite not provided [RCV003030926] Chr6:63720987..63720988 [GRCh38]
Chr6:64430883..64430884 [GRCh37]
Chr6:6q12		 pathogenic
NM_001142800.2(EYS):c.9302_9303del (p.Gln3101fs) deletion Retinal dystrophy [RCV003889201]|Retinitis pigmentosa 25 [RCV003465894]|not provided [RCV003030925] Chr6:63720728..63720729 [GRCh38]
Chr6:64430624..64430625 [GRCh37]
Chr6:6q12		 pathogenic|likely pathogenic|uncertain significance
NM_001142800.2(EYS):c.8843G>A (p.Cys2948Tyr) single nucleotide variant not provided [RCV002770718] Chr6:63721188 [GRCh38]
Chr6:64431084 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001142800.2(EYS):c.8410G>T (p.Val2804Leu) single nucleotide variant not provided [RCV003089559] Chr6:63721621 [GRCh38]
Chr6:64431517 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001370348.2(PHF3):c.2440G>C (p.Asp814His) single nucleotide variant not specified [RCV004075087] Chr6:63691987 [GRCh38]
Chr6:64401877 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001142800.2(EYS):c.8751_8754del (p.Asn2918fs) deletion Retinitis pigmentosa 25 [RCV003459693]|not provided [RCV003009973] Chr6:63721277..63721280 [GRCh38]
Chr6:64431173..64431176 [GRCh37]
Chr6:6q12		 pathogenic|likely pathogenic
NM_001142800.2(EYS):c.8661A>C (p.Gly2887=) single nucleotide variant not provided [RCV003046596] Chr6:63721370 [GRCh38]
Chr6:64431266 [GRCh37]
Chr6:6q12		 likely benign
NM_001370348.2(PHF3):c.1940T>A (p.Leu647His) single nucleotide variant not specified [RCV004104747] Chr6:63685662 [GRCh38]
Chr6:64395563 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001370348.2(PHF3):c.2582A>G (p.Gln861Arg) single nucleotide variant not specified [RCV004195381] Chr6:63694666 [GRCh38]
Chr6:64404556 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001142800.2(EYS):c.9379A>G (p.Ile3127Val) single nucleotide variant not provided [RCV003047688] Chr6:63720652 [GRCh38]
Chr6:64430548 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001142800.2(EYS):c.9381T>G (p.Ile3127Met) single nucleotide variant not provided [RCV003060766] Chr6:63720650 [GRCh38]
Chr6:64430546 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001142800.2(EYS):c.9107A>G (p.Asn3036Ser) single nucleotide variant not provided [RCV003063703] Chr6:63720924 [GRCh38]
Chr6:64430820 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001142800.2(EYS):c.8769C>T (p.His2923=) single nucleotide variant not provided [RCV003031625] Chr6:63721262 [GRCh38]
Chr6:64431158 [GRCh37]
Chr6:6q12		 likely benign
NM_001370348.2(PHF3):c.3212A>T (p.Glu1071Val) single nucleotide variant not specified [RCV004176527] Chr6:63702620 [GRCh38]
Chr6:64412510 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001142800.2(EYS):c.8982A>G (p.Leu2994=) single nucleotide variant not provided [RCV002988477] Chr6:63721049 [GRCh38]
Chr6:64430945 [GRCh37]
Chr6:6q12		 likely benign
NM_001142800.2(EYS):c.8685_8687del (p.Thr2896del) deletion not provided [RCV002627897] Chr6:63721344..63721346 [GRCh38]
Chr6:64431240..64431242 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001142800.2(EYS):c.8983A>G (p.Ile2995Val) single nucleotide variant not provided [RCV002583571] Chr6:63721048 [GRCh38]
Chr6:64430944 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001142800.2(EYS):c.8641T>C (p.Tyr2881His) single nucleotide variant not provided [RCV003051069] Chr6:63721390 [GRCh38]
Chr6:64431286 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001142800.2(EYS):c.8820T>G (p.Thr2940=) single nucleotide variant not provided [RCV002634784] Chr6:63721211 [GRCh38]
Chr6:64431107 [GRCh37]
Chr6:6q12		 likely benign
NM_001142800.2(EYS):c.8786C>T (p.Pro2929Leu) single nucleotide variant not provided [RCV002582324] Chr6:63721245 [GRCh38]
Chr6:64431141 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001370348.2(PHF3):c.5264G>A (p.Arg1755Gln) single nucleotide variant not specified [RCV004218954] Chr6:63712852 [GRCh38]
Chr6:64422748 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001142800.2(EYS):c.8728T>C (p.Cys2910Arg) single nucleotide variant not provided [RCV002608558] Chr6:63721303 [GRCh38]
Chr6:64431199 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001142800.2(EYS):c.8488A>C (p.Asn2830His) single nucleotide variant not provided [RCV003071943] Chr6:63721543 [GRCh38]
Chr6:64431439 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001370348.2(PHF3):c.761A>C (p.Asn254Thr) single nucleotide variant not specified [RCV004082047] Chr6:63684483 [GRCh38]
Chr6:64394384 [GRCh37]
Chr6:6q12		 likely benign
NM_001142800.2(EYS):c.8758C>A (p.Leu2920Ile) single nucleotide variant Inborn genetic diseases [RCV004617184]|not provided [RCV003072346] Chr6:63721273 [GRCh38]
Chr6:64431169 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001142800.2(EYS):c.8477T>C (p.Val2826Ala) single nucleotide variant not provided [RCV002582498] Chr6:63721554 [GRCh38]
Chr6:64431450 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001142800.2(EYS):c.8581A>T (p.Thr2861Ser) single nucleotide variant not provided [RCV002942774] Chr6:63721450 [GRCh38]
Chr6:64431346 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001142800.2(EYS):c.8411_8412insTT (p.Val2804_Thr2805insTer) insertion Retinitis pigmentosa 25 [RCV003465982]|not provided [RCV002611861] Chr6:63721619..63721620 [GRCh38]
Chr6:64431515..64431516 [GRCh37]
Chr6:6q12		 pathogenic
NM_001142800.2(EYS):c.9211G>C (p.Asp3071His) single nucleotide variant not provided [RCV003067273] Chr6:63720820 [GRCh38]
Chr6:64430716 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001370348.2(PHF3):c.5282C>T (p.Ala1761Val) single nucleotide variant not specified [RCV004283661] Chr6:63712870 [GRCh38]
Chr6:64422766 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001370348.2(PHF3):c.1906G>A (p.Ala636Thr) single nucleotide variant not specified [RCV004279571] Chr6:63685628 [GRCh38]
Chr6:64395529 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001370348.2(PHF3):c.1133A>G (p.Lys378Arg) single nucleotide variant not specified [RCV004309009] Chr6:63684855 [GRCh38]
Chr6:64394756 [GRCh37]
Chr6:6q12		 likely benign
NM_001370348.2(PHF3):c.5090T>C (p.Val1697Ala) single nucleotide variant not specified [RCV004258198] Chr6:63712678 [GRCh38]
Chr6:64422574 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001370348.2(PHF3):c.4088A>C (p.His1363Pro) single nucleotide variant not specified [RCV004268913] Chr6:63711676 [GRCh38]
Chr6:64421572 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001370348.2(PHF3):c.106G>A (p.Ala36Thr) single nucleotide variant not specified [RCV004333827] Chr6:63646657 [GRCh38]
Chr6:64356562 [GRCh37]
Chr6:6q12		 likely benign
NM_001370348.2(PHF3):c.1634T>C (p.Val545Ala) single nucleotide variant not specified [RCV004291026] Chr6:63685356 [GRCh38]
Chr6:64395257 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001370348.2(PHF3):c.1364A>C (p.Glu455Ala) single nucleotide variant not specified [RCV004345743] Chr6:63685086 [GRCh38]
Chr6:64394987 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001370348.2(PHF3):c.2720A>G (p.Glu907Gly) single nucleotide variant not specified [RCV004354387] Chr6:63698262 [GRCh38]
Chr6:64408152 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001370348.2(PHF3):c.3463A>G (p.Ile1155Val) single nucleotide variant not specified [RCV004361254] Chr6:63706124 [GRCh38]
Chr6:64416014 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001370348.2(PHF3):c.3647C>T (p.Pro1216Leu) single nucleotide variant not specified [RCV004352606] Chr6:63706812 [GRCh38]
Chr6:64416702 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001370348.2(PHF3):c.3032T>C (p.Ile1011Thr) single nucleotide variant not specified [RCV004357655] Chr6:63700399 [GRCh38]
Chr6:64410289 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001370348.2(PHF3):c.5599C>T (p.Arg1867Cys) single nucleotide variant not specified [RCV004357785] Chr6:63713187 [GRCh38]
Chr6:64423083 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001370348.2(PHF3):c.4436A>T (p.Gln1479Leu) single nucleotide variant not specified [RCV004359861] Chr6:63712024 [GRCh38]
Chr6:64421920 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001142800.2(EYS):c.9013G>T (p.Glu3005Ter) single nucleotide variant Retinitis pigmentosa 25 [RCV003468017] Chr6:63721018 [GRCh38]
Chr6:64430914 [GRCh37]
Chr6:6q12		 likely pathogenic
NM_001142800.2(EYS):c.8242_8243del (p.Leu2748fs) deletion Retinitis pigmentosa 25 [RCV003468036] Chr6:63721788..63721789 [GRCh38]
Chr6:64431684..64431685 [GRCh37]
Chr6:6q12		 pathogenic
NM_001142800.2(EYS):c.8413dup (p.Thr2805fs) duplication Retinitis pigmentosa 25 [RCV003468041] Chr6:63721617..63721618 [GRCh38]
Chr6:64431513..64431514 [GRCh37]
Chr6:6q12		 pathogenic
NM_001370348.2(PHF3):c.2981A>G (p.Asn994Ser) single nucleotide variant not specified [RCV004343210] Chr6:63698604 [GRCh38]
Chr6:64408494 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001370348.2(PHF3):c.718T>C (p.Cys240Arg) single nucleotide variant not specified [RCV004350920] Chr6:63684440 [GRCh38]
Chr6:64394341 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001370348.2(PHF3):c.3385G>A (p.Val1129Ile) single nucleotide variant not specified [RCV004354985] Chr6:63706046 [GRCh38]
Chr6:64415936 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001142800.2(EYS):c.9067_9085del (p.Asn3023fs) deletion Retinitis pigmentosa 25 [RCV003460061] Chr6:63720946..63720964 [GRCh38]
Chr6:64430842..64430860 [GRCh37]
Chr6:6q12		 likely pathogenic
NM_001142800.2(EYS):c.9086_9087del (p.Ser3029fs) microsatellite Retinitis pigmentosa 25 [RCV003460062] Chr6:63720944..63720945 [GRCh38]
Chr6:64430840..64430841 [GRCh37]
Chr6:6q12		 likely pathogenic
NM_001142800.2(EYS):c.9380_9383del (p.Ile3127fs) deletion Retinitis pigmentosa 25 [RCV003460086]|not provided [RCV003679218] Chr6:63720648..63720651 [GRCh38]
Chr6:64430544..64430547 [GRCh37]
Chr6:6q12		 pathogenic|likely pathogenic
NM_001142800.2(EYS):c.9163_9164del (p.Leu3055fs) microsatellite Retinitis pigmentosa 25 [RCV003460083] Chr6:63720867..63720868 [GRCh38]
Chr6:64430763..64430764 [GRCh37]
Chr6:6q12		 likely pathogenic
NM_001142800.2(EYS):c.9337_9350del (p.Lys3113fs) deletion Retinitis pigmentosa 25 [RCV003468040]|not provided [RCV003661059] Chr6:63720681..63720694 [GRCh38]
Chr6:64430577..64430590 [GRCh37]
Chr6:6q12		 pathogenic
NM_001142800.2(EYS):c.8392del (p.Asp2798fs) deletion Retinitis pigmentosa 25 [RCV003468045]|not provided [RCV003553953] Chr6:63721639 [GRCh38]
Chr6:64431535 [GRCh37]
Chr6:6q12		 pathogenic
NM_001142800.2(EYS):c.9291T>C (p.Asn3097=) single nucleotide variant not provided [RCV003873737] Chr6:63720740 [GRCh38]
Chr6:64430636 [GRCh37]
Chr6:6q12		 likely benign
GRCh37/hg19 6q11.1-12(chr6:61886427-67715541)x1 copy number loss not provided [RCV003485513] Chr6:61886427..67715541 [GRCh37]
Chr6:6q11.1-12		 uncertain significance
NM_001142800.2(EYS):c.8410del (p.Asn2803_Val2804insTer) deletion not provided [RCV003686205] Chr6:63721621 [GRCh38]
Chr6:64431517 [GRCh37]
Chr6:6q12		 pathogenic
NM_001142800.2(EYS):c.8907T>C (p.Asp2969=) single nucleotide variant not provided [RCV003712592] Chr6:63721124 [GRCh38]
Chr6:64431020 [GRCh37]
Chr6:6q12		 likely benign
NM_001370348.2(PHF3):c.4429A>G (p.Thr1477Ala) single nucleotide variant PHF3-related disorder [RCV003420724] Chr6:63712017 [GRCh38]
Chr6:64421913 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001142800.2(EYS):c.8804dup (p.Tyr2935Ter) duplication Retinitis pigmentosa 25 [RCV003460085] Chr6:63721226..63721227 [GRCh38]
Chr6:64431122..64431123 [GRCh37]
Chr6:6q12		 pathogenic
NM_001142800.2(EYS):c.9301C>T (p.Gln3101Ter) single nucleotide variant Retinitis pigmentosa 25 [RCV003468008]|not provided [RCV003679215] Chr6:63720730 [GRCh38]
Chr6:64430626 [GRCh37]
Chr6:6q12		 pathogenic|likely pathogenic
NM_001142800.2(EYS):c.8412_8413insCA (p.Thr2805fs) insertion Retinitis pigmentosa 25 [RCV003460078]|not provided [RCV003779021] Chr6:63721618..63721619 [GRCh38]
Chr6:64431514..64431515 [GRCh37]
Chr6:6q12		 pathogenic|likely pathogenic
NM_001142800.2(EYS):c.8455del (p.Thr2819fs) deletion Retinitis pigmentosa 25 [RCV003460056] Chr6:63721576 [GRCh38]
Chr6:64431472 [GRCh37]
Chr6:6q12		 pathogenic
NM_001142800.2(EYS):c.9324_9326delinsGG (p.Phe3108fs) indel Retinitis pigmentosa 25 [RCV003460095] Chr6:63720705..63720707 [GRCh38]
Chr6:64430601..64430603 [GRCh37]
Chr6:6q12		 likely pathogenic
NM_001142800.2(EYS):c.9010_9019del (p.Glu3004fs) deletion Retinitis pigmentosa 25 [RCV003468046] Chr6:63721012..63721021 [GRCh38]
Chr6:64430908..64430917 [GRCh37]
Chr6:6q12		 likely pathogenic
NM_001142800.2(EYS):c.8697C>A (p.Cys2899Ter) single nucleotide variant Retinitis pigmentosa 25 [RCV003460091] Chr6:63721334 [GRCh38]
Chr6:64431230 [GRCh37]
Chr6:6q12		 likely pathogenic
NM_001142800.2(EYS):c.8858C>A (p.Ser2953Ter) single nucleotide variant Retinal dystrophy [RCV003889304]|Retinitis pigmentosa 25 [RCV003468056] Chr6:63721173 [GRCh38]
Chr6:64431069 [GRCh37]
Chr6:6q12		 likely pathogenic|uncertain significance
NM_001142800.2(EYS):c.8906A>T (p.Asp2969Val) single nucleotide variant EYS-related disorder [RCV003420874] Chr6:63721125 [GRCh38]
Chr6:64431021 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001370348.2(PHF3):c.962A>G (p.Asp321Gly) single nucleotide variant PHF3-related disorder [RCV003391582] Chr6:63684684 [GRCh38]
Chr6:64394585 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001370348.2(PHF3):c.3232-5G>A single nucleotide variant not provided [RCV003436624] Chr6:63703531 [GRCh38]
Chr6:64413421 [GRCh37]
Chr6:6q12		 likely benign
NM_001370348.2(PHF3):c.151G>A (p.Asp51Asn) single nucleotide variant PHF3-related disorder [RCV003392812] Chr6:63646702 [GRCh38]
Chr6:64356607 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001370348.2(PHF3):c.2272G>A (p.Gly758Ser) single nucleotide variant not provided [RCV003457141] Chr6:63691819 [GRCh38]
Chr6:64401709 [GRCh37]
Chr6:6q12		 likely benign
NM_001370348.2(PHF3):c.2414_2415inv (p.Leu805Gln) inversion PHF3-related disorder [RCV003414447] Chr6:63691961..63691962 [GRCh38]
Chr6:64401851..64401852 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001370348.2(PHF3):c.5095dup (p.Glu1699fs) duplication PHF3-related disorder [RCV003416936] Chr6:63712681..63712682 [GRCh38]
Chr6:64422577..64422578 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001142800.2(EYS):c.9248G>A (p.Gly3083Asp) single nucleotide variant Retinal dystrophy [RCV003889299]|not specified [RCV003388478] Chr6:63720783 [GRCh38]
Chr6:64430679 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001370348.2(PHF3):c.5614C>T (p.Leu1872Phe) single nucleotide variant PHF3-related disorder [RCV003406226]|not specified [RCV004362832] Chr6:63713202 [GRCh38]
Chr6:64423098 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001142800.2(EYS):c.8945_8946delinsATTTCAC (p.Ile2982fs) indel Retinitis pigmentosa 25 [RCV003460058] Chr6:63721085..63721086 [GRCh38]
Chr6:64430981..64430982 [GRCh37]
Chr6:6q12		 likely pathogenic
NM_001142800.2(EYS):c.8254_8255del (p.Leu2752fs) deletion Retinitis pigmentosa 25 [RCV003460076] Chr6:63721776..63721777 [GRCh38]
Chr6:64431672..64431673 [GRCh37]
Chr6:6q12		 likely pathogenic
NM_001370348.2(PHF3):c.6065G>C (p.Arg2022Thr) single nucleotide variant PHF3-related disorder [RCV003402794] Chr6:63713653 [GRCh38]
Chr6:64423549 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001142800.2(EYS):c.9313A>T (p.Lys3105Ter) single nucleotide variant not provided [RCV003578214] Chr6:63720718 [GRCh38]
Chr6:64430614 [GRCh37]
Chr6:6q12		 pathogenic
NM_001142800.2(EYS):c.8835A>G (p.Gly2945=) single nucleotide variant not provided [RCV003692040] Chr6:63721196 [GRCh38]
Chr6:64431092 [GRCh37]
Chr6:6q12		 likely benign
NM_001370348.2(PHF3):c.244+33del deletion not provided [RCV003662990] Chr6:63646807 [GRCh38]
Chr6:64356712 [GRCh37]
Chr6:6q12		 benign
NM_001142800.2(EYS):c.8808T>C (p.Ser2936=) single nucleotide variant not provided [RCV003544828] Chr6:63721223 [GRCh38]
Chr6:64431119 [GRCh37]
Chr6:6q12		 likely benign
NM_001142800.2(EYS):c.9399del (p.Asn3133fs) deletion not provided [RCV003695819] Chr6:63720632 [GRCh38]
Chr6:64430528 [GRCh37]
Chr6:6q12		 pathogenic
NM_001142800.2(EYS):c.8490T>C (p.Asn2830=) single nucleotide variant not provided [RCV003848853] Chr6:63721541 [GRCh38]
Chr6:64431437 [GRCh37]
Chr6:6q12		 likely benign
NM_001142800.2(EYS):c.9240_9273del (p.Tyr3081fs) deletion not provided [RCV003572620] Chr6:63720758..63720791 [GRCh38]
Chr6:64430654..64430687 [GRCh37]
Chr6:6q12		 pathogenic
NM_001142800.2(EYS):c.8346T>G (p.Thr2782=) single nucleotide variant not provided [RCV003572674] Chr6:63721685 [GRCh38]
Chr6:64431581 [GRCh37]
Chr6:6q12		 likely benign
NM_001142800.2(EYS):c.8726del (p.Thr2909fs) deletion Retinitis pigmentosa 25 [RCV004574303]|not provided [RCV003689334] Chr6:63721305 [GRCh38]
Chr6:64431201 [GRCh37]
Chr6:6q12		 pathogenic|likely pathogenic
NM_001142800.2(EYS):c.8234-7C>T single nucleotide variant not provided [RCV003695143] Chr6:63721804 [GRCh38]
Chr6:64431700 [GRCh37]
Chr6:6q12		 likely benign
NM_001142800.2(EYS):c.9348A>G (p.Val3116=) single nucleotide variant not provided [RCV003694093] Chr6:63720683 [GRCh38]
Chr6:64430579 [GRCh37]
Chr6:6q12		 likely benign
NM_001142800.2(EYS):c.8322_8325del (p.Gln2774_Lys2775insTer) deletion not provided [RCV003696182] Chr6:63721706..63721709 [GRCh38]
Chr6:64431602..64431605 [GRCh37]
Chr6:6q12		 pathogenic
NM_001142800.2(EYS):c.8691_8692del (p.Ser2898fs) deletion not provided [RCV003578463] Chr6:63721339..63721340 [GRCh38]
Chr6:64431235..64431236 [GRCh37]
Chr6:6q12		 pathogenic
NM_001142800.2(EYS):c.8268C>T (p.Ser2756=) single nucleotide variant not provided [RCV003831034] Chr6:63721763 [GRCh38]
Chr6:64431659 [GRCh37]
Chr6:6q12		 likely benign
NM_001142800.2(EYS):c.9079A>T (p.Arg3027Ter) single nucleotide variant not provided [RCV003544701] Chr6:63720952 [GRCh38]
Chr6:64430848 [GRCh37]
Chr6:6q12		 pathogenic
NM_001142800.2(EYS):c.9293del (p.Ile3098fs) deletion not provided [RCV003688386] Chr6:63720738 [GRCh38]
Chr6:64430634 [GRCh37]
Chr6:6q12		 pathogenic
NM_001142800.2(EYS):c.8640G>A (p.Gly2880=) single nucleotide variant not provided [RCV003689875] Chr6:63721391 [GRCh38]
Chr6:64431287 [GRCh37]
Chr6:6q12		 likely benign
NM_001142800.2(EYS):c.8811C>T (p.Cys2937=) single nucleotide variant not provided [RCV003875897] Chr6:63721220 [GRCh38]
Chr6:64431116 [GRCh37]
Chr6:6q12		 likely benign
NM_001142800.2(EYS):c.8983_8988del (p.Ile2995_Val2996del) deletion not provided [RCV003686820] Chr6:63721043..63721048 [GRCh38]
Chr6:64430939..64430944 [GRCh37]
Chr6:6q12		 pathogenic
NM_001142800.2(EYS):c.8234-18C>T single nucleotide variant not provided [RCV003717741] Chr6:63721815 [GRCh38]
Chr6:64431711 [GRCh37]
Chr6:6q12		 likely benign
NM_001142800.2(EYS):c.9147A>G (p.Val3049=) single nucleotide variant not provided [RCV003548888] Chr6:63720884 [GRCh38]
Chr6:64430780 [GRCh37]
Chr6:6q12		 likely benign
NM_001142800.2(EYS):c.8389del (p.Leu2797fs) deletion not provided [RCV003697500] Chr6:63721642 [GRCh38]
Chr6:64431538 [GRCh37]
Chr6:6q12		 pathogenic
NM_001142800.2(EYS):c.9303A>G (p.Gln3101=) single nucleotide variant not provided [RCV003723894] Chr6:63720728 [GRCh38]
Chr6:64430624 [GRCh37]
Chr6:6q12		 likely benign
NM_001142800.2(EYS):c.8234-4del deletion not provided [RCV003725159] Chr6:63721801 [GRCh38]
Chr6:64431697 [GRCh37]
Chr6:6q12		 likely benign
NM_001142800.2(EYS):c.8673A>C (p.Thr2891=) single nucleotide variant not provided [RCV003701711] Chr6:63721358 [GRCh38]
Chr6:64431254 [GRCh37]
Chr6:6q12		 likely benign
NM_001142800.2(EYS):c.9388G>T (p.Glu3130Ter) single nucleotide variant not provided [RCV003701417] Chr6:63720643 [GRCh38]
Chr6:64430539 [GRCh37]
Chr6:6q12		 pathogenic
NM_001142800.2(EYS):c.8234-6T>C single nucleotide variant not provided [RCV003725161] Chr6:63721803 [GRCh38]
Chr6:64431699 [GRCh37]
Chr6:6q12		 likely benign
NM_001142800.2(EYS):c.8831dup (p.Arg2946fs) duplication not provided [RCV003665383] Chr6:63721199..63721200 [GRCh38]
Chr6:64431095..64431096 [GRCh37]
Chr6:6q12		 pathogenic
NM_001142800.2(EYS):c.9397_9398dup (p.Asn3133fs) duplication not provided [RCV003663820] Chr6:63720632..63720633 [GRCh38]
Chr6:64430528..64430529 [GRCh37]
Chr6:6q12		 pathogenic
NM_001142800.2(EYS):c.8234-5T>C single nucleotide variant not provided [RCV003725160] Chr6:63721802 [GRCh38]
Chr6:64431698 [GRCh37]
Chr6:6q12		 likely benign
NM_001142800.2(EYS):c.8751G>A (p.Leu2917=) single nucleotide variant not provided [RCV003564158] Chr6:63721280 [GRCh38]
Chr6:64431176 [GRCh37]
Chr6:6q12		 likely benign
NM_001142800.2(EYS):c.8997A>T (p.Gly2999=) single nucleotide variant not provided [RCV003565202] Chr6:63721034 [GRCh38]
Chr6:64430930 [GRCh37]
Chr6:6q12		 likely benign
NM_001142800.2(EYS):c.8439T>C (p.Ser2813=) single nucleotide variant not provided [RCV003677099] Chr6:63721592 [GRCh38]
Chr6:64431488 [GRCh37]
Chr6:6q12		 likely benign
NM_001142800.2(EYS):c.8847A>G (p.Glu2949=) single nucleotide variant not provided [RCV003677685] Chr6:63721184 [GRCh38]
Chr6:64431080 [GRCh37]
Chr6:6q12		 likely benign
NM_001142800.2(EYS):c.8749T>C (p.Leu2917=) single nucleotide variant not provided [RCV003841063] Chr6:63721282 [GRCh38]
Chr6:64431178 [GRCh37]
Chr6:6q12		 likely benign
NM_001142800.2(EYS):c.8913T>C (p.Asn2971=) single nucleotide variant not provided [RCV003681506] Chr6:63721118 [GRCh38]
Chr6:64431014 [GRCh37]
Chr6:6q12		 likely benign
NM_001142800.2(EYS):c.8727A>C (p.Thr2909=) single nucleotide variant not provided [RCV003551524] Chr6:63721304 [GRCh38]
Chr6:64431200 [GRCh37]
Chr6:6q12		 likely benign
NM_001142800.2(EYS):c.8545C>A (p.Arg2849=) single nucleotide variant not provided [RCV003719125] Chr6:63721486 [GRCh38]
Chr6:64431382 [GRCh37]
Chr6:6q12		 likely benign
NM_001142800.2(EYS):c.9316del (p.Thr3106fs) deletion not provided [RCV003840628] Chr6:63720715 [GRCh38]
Chr6:64430611 [GRCh37]
Chr6:6q12		 pathogenic
NM_001142800.2(EYS):c.8244A>G (p.Leu2748=) single nucleotide variant not provided [RCV003719320] Chr6:63721787 [GRCh38]
Chr6:64431683 [GRCh37]
Chr6:6q12		 likely benign
NM_001142800.2(EYS):c.9434A>G (p.Ter3145=) single nucleotide variant not provided [RCV003870861] Chr6:63720597 [GRCh38]
Chr6:64430493 [GRCh37]
Chr6:6q12		 likely benign
NM_001142800.2(EYS):c.9321T>C (p.Asn3107=) single nucleotide variant not provided [RCV003866865] Chr6:63720710 [GRCh38]
Chr6:64430606 [GRCh37]
Chr6:6q12		 likely benign
NM_001142800.2(EYS):c.8629_8633del (p.Thr2877fs) deletion not provided [RCV003721129] Chr6:63721398..63721402 [GRCh38]
Chr6:64431294..64431298 [GRCh37]
Chr6:6q12		 pathogenic
NM_001142800.2(EYS):c.8831del (p.Val2944fs) deletion not provided [RCV003706765] Chr6:63721200 [GRCh38]
Chr6:64431096 [GRCh37]
Chr6:6q12		 pathogenic
NM_001142800.2(EYS):c.8715G>A (p.Trp2905Ter) single nucleotide variant not provided [RCV003564064] Chr6:63721316 [GRCh38]
Chr6:64431212 [GRCh37]
Chr6:6q12		 pathogenic
NM_001142800.2(EYS):c.8727A>G (p.Thr2909=) single nucleotide variant not provided [RCV003679720] Chr6:63721304 [GRCh38]
Chr6:64431200 [GRCh37]
Chr6:6q12		 likely benign
NM_001142800.2(EYS):c.9324T>C (p.Phe3108=) single nucleotide variant not provided [RCV003872120] Chr6:63720707 [GRCh38]
Chr6:64430603 [GRCh37]
Chr6:6q12		 likely benign
NM_001142800.2(EYS):c.8883T>C (p.Gly2961=) single nucleotide variant not provided [RCV003707363] Chr6:63721148 [GRCh38]
Chr6:64431044 [GRCh37]
Chr6:6q12		 likely benign
NM_001142800.2(EYS):c.8409T>C (p.Asn2803=) single nucleotide variant not provided [RCV003685684] Chr6:63721622 [GRCh38]
Chr6:64431518 [GRCh37]
Chr6:6q12		 likely benign
NM_001142800.2(EYS):c.8772A>G (p.Gln2924=) single nucleotide variant not provided [RCV003555210] Chr6:63721259 [GRCh38]
Chr6:64431155 [GRCh37]
Chr6:6q12		 likely benign
NM_001142800.2(EYS):c.8477dup (p.Ser2827fs) duplication not provided [RCV003840605] Chr6:63721553..63721554 [GRCh38]
Chr6:64431449..64431450 [GRCh37]
Chr6:6q12		 pathogenic
NM_001142800.2(EYS):c.8643C>G (p.Tyr2881Ter) single nucleotide variant not provided [RCV003723204] Chr6:63721388 [GRCh38]
Chr6:64431284 [GRCh37]
Chr6:6q12		 pathogenic
NM_001142800.2(EYS):c.9417A>G (p.Glu3139=) single nucleotide variant not provided [RCV003681032] Chr6:63720614 [GRCh38]
Chr6:64430510 [GRCh37]
Chr6:6q12		 likely benign
NM_001142800.2(EYS):c.8613A>C (p.Val2871=) single nucleotide variant not provided [RCV003712067] Chr6:63721418 [GRCh38]
Chr6:64431314 [GRCh37]
Chr6:6q12		 likely benign
NM_001142800.2(EYS):c.9157del (p.Gln3053fs) deletion not provided [RCV003554898] Chr6:63720874 [GRCh38]
Chr6:64430770 [GRCh37]
Chr6:6q12		 pathogenic
NM_001142800.2(EYS):c.8574A>G (p.Leu2858=) single nucleotide variant not provided [RCV003685612] Chr6:63721457 [GRCh38]
Chr6:64431353 [GRCh37]
Chr6:6q12		 likely benign
NM_001142800.2(EYS):c.8234-20T>C single nucleotide variant not provided [RCV003566874] Chr6:63721817 [GRCh38]
Chr6:64431713 [GRCh37]
Chr6:6q12		 likely benign
NM_001142800.2(EYS):c.9027G>A (p.Leu3009=) single nucleotide variant not provided [RCV003734514] Chr6:63721004 [GRCh38]
Chr6:64430900 [GRCh37]
Chr6:6q12		 likely benign
NM_001142800.2(EYS):c.9111C>T (p.Gly3037=) single nucleotide variant not provided [RCV003676864] Chr6:63720920 [GRCh38]
Chr6:64430816 [GRCh37]
Chr6:6q12		 likely benign
NM_001142800.2(EYS):c.9165T>C (p.Leu3055=) single nucleotide variant not provided [RCV003734181] Chr6:63720866 [GRCh38]
Chr6:64430762 [GRCh37]
Chr6:6q12		 likely benign
NM_001142800.2(EYS):c.8756del (p.Asn2919fs) deletion not provided [RCV003541877] Chr6:63721275 [GRCh38]
Chr6:64431171 [GRCh37]
Chr6:6q12		 pathogenic
NM_001142800.2(EYS):c.9009T>C (p.Asn3003=) single nucleotide variant not provided [RCV003704438] Chr6:63721022 [GRCh38]
Chr6:64430918 [GRCh37]
Chr6:6q12		 likely benign
NM_001142800.2(EYS):c.8292C>T (p.Gly2764=) single nucleotide variant not provided [RCV003541896] Chr6:63721739 [GRCh38]
Chr6:64431635 [GRCh37]
Chr6:6q12		 likely benign
NM_001142800.2(EYS):c.8234-15T>C single nucleotide variant not provided [RCV003821525] Chr6:63721812 [GRCh38]
Chr6:64431708 [GRCh37]
Chr6:6q12		 likely benign
NM_001142800.2(EYS):c.8320C>T (p.Gln2774Ter) single nucleotide variant not provided [RCV003566750] Chr6:63721711 [GRCh38]
Chr6:64431607 [GRCh37]
Chr6:6q12		 pathogenic
NM_001142800.2(EYS):c.8983_8992del (p.Ile2995fs) deletion Retinal dystrophy [RCV003891009] Chr6:63721039..63721048 [GRCh38]
Chr6:64430935..64430944 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001142800.2(EYS):c.8825G>T (p.Gly2942Val) single nucleotide variant Retinal dystrophy [RCV003891011] Chr6:63721206 [GRCh38]
Chr6:64431102 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001142800.2(EYS):c.8812C>A (p.Leu2938Met) single nucleotide variant Retinal dystrophy [RCV003891012] Chr6:63721219 [GRCh38]
Chr6:64431115 [GRCh37]
Chr6:6q12		 likely benign
NM_001142800.2(EYS):c.8411T>A (p.Val2804Glu) single nucleotide variant Retinal dystrophy [RCV003891019] Chr6:63721620 [GRCh38]
Chr6:64431516 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001142800.2(EYS):c.8299_8302del (p.Thr2767fs) deletion Retinal dystrophy [RCV003891020] Chr6:63721729..63721732 [GRCh38]
Chr6:64431625..64431628 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001370348.2(PHF3):c.2862G>T (p.Lys954Asn) single nucleotide variant PHF3-related disorder [RCV003904291] Chr6:63698485 [GRCh38]
Chr6:64408375 [GRCh37]
Chr6:6q12		 likely benign
NM_001370348.2(PHF3):c.4692A>G (p.Pro1564=) single nucleotide variant PHF3-related disorder [RCV003909776] Chr6:63712280 [GRCh38]
Chr6:64422176 [GRCh37]
Chr6:6q12		 likely benign
NM_001370348.2(PHF3):c.407-9_407-8del deletion PHF3-related disorder [RCV003917129] Chr6:63684120..63684121 [GRCh38]
Chr6:64394021..64394022 [GRCh37]
Chr6:6q12		 benign
NM_001142800.2(EYS):c.9219T>A (p.His3073Gln) single nucleotide variant Retinal dystrophy [RCV003891008] Chr6:63720812 [GRCh38]
Chr6:64430708 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001142800.2(EYS):c.8695del (p.Cys2899fs) deletion Retinal dystrophy [RCV003891013] Chr6:63721336 [GRCh38]
Chr6:64431232 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001370348.2(PHF3):c.5021G>A (p.Arg1674Gln) single nucleotide variant PHF3-related disorder [RCV003976307] Chr6:63712609 [GRCh38]
Chr6:64422505 [GRCh37]
Chr6:6q12		 benign
NM_001370348.2(PHF3):c.2415T>A (p.Leu805=) single nucleotide variant PHF3-related disorder [RCV003969147] Chr6:63691962 [GRCh38]
Chr6:64401852 [GRCh37]
Chr6:6q12		 likely benign
NM_001370348.2(PHF3):c.852A>G (p.Pro284=) single nucleotide variant PHF3-related disorder [RCV003911946] Chr6:63684574 [GRCh38]
Chr6:64394475 [GRCh37]
Chr6:6q12		 likely benign
NM_001370348.2(PHF3):c.4827G>C (p.Gln1609His) single nucleotide variant PHF3-related disorder [RCV003976933] Chr6:63712415 [GRCh38]
Chr6:64422311 [GRCh37]
Chr6:6q12		 likely benign
NM_001370348.2(PHF3):c.498A>G (p.Val166=) single nucleotide variant PHF3-related disorder [RCV003924473] Chr6:63684220 [GRCh38]
Chr6:64394121 [GRCh37]
Chr6:6q12		 benign
NM_001370348.2(PHF3):c.2681G>T (p.Gly894Val) single nucleotide variant PHF3-related disorder [RCV003936880] Chr6:63698223 [GRCh38]
Chr6:64408113 [GRCh37]
Chr6:6q12		 benign
NM_001370348.2(PHF3):c.3712-7del deletion PHF3-related disorder [RCV003951794] Chr6:63709143 [GRCh38]
Chr6:64419039 [GRCh37]
Chr6:6q12		 likely benign
NM_001370348.2(PHF3):c.1927G>A (p.Val643Met) single nucleotide variant PHF3-related disorder [RCV003966796] Chr6:63685649 [GRCh38]
Chr6:64395550 [GRCh37]
Chr6:6q12		 benign
NM_001370348.2(PHF3):c.2560G>A (p.Ala854Thr) single nucleotide variant PHF3-related disorder [RCV003951942] Chr6:63694644 [GRCh38]
Chr6:64404534 [GRCh37]
Chr6:6q12		 benign
NM_001370348.2(PHF3):c.3140G>A (p.Arg1047Gln) single nucleotide variant PHF3-related disorder [RCV003962021] Chr6:63702548 [GRCh38]
Chr6:64412438 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001370348.2(PHF3):c.2996A>G (p.Lys999Arg) single nucleotide variant PHF3-related disorder [RCV003983577] Chr6:63700363 [GRCh38]
Chr6:64410253 [GRCh37]
Chr6:6q12		 likely benign
NM_001142800.2(EYS):c.8534A>G (p.Gln2845Arg) single nucleotide variant Retinal dystrophy [RCV003891016] Chr6:63721497 [GRCh38]
Chr6:64431393 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001142800.2(EYS):c.8474G>T (p.Gly2825Val) single nucleotide variant Retinal dystrophy [RCV003891017] Chr6:63721557 [GRCh38]
Chr6:64431453 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001370348.2(PHF3):c.5745G>A (p.Arg1915=) single nucleotide variant PHF3-related disorder [RCV003932155] Chr6:63713333 [GRCh38]
Chr6:64423229 [GRCh37]
Chr6:6q12		 benign
NM_001370348.2(PHF3):c.697G>A (p.Gly233Arg) single nucleotide variant PHF3-related disorder [RCV003932245] Chr6:63684419 [GRCh38]
Chr6:64394320 [GRCh37]
Chr6:6q12		 benign
NM_001370348.2(PHF3):c.1584G>A (p.Val528=) single nucleotide variant PHF3-related disorder [RCV003909565] Chr6:63685306 [GRCh38]
Chr6:64395207 [GRCh37]
Chr6:6q12		 likely benign
NM_001370348.2(PHF3):c.4455G>C (p.Gln1485His) single nucleotide variant PHF3-related disorder [RCV003929393] Chr6:63712043 [GRCh38]
Chr6:64421939 [GRCh37]
Chr6:6q12		 likely benign
NM_001370348.2(PHF3):c.4870A>T (p.Asn1624Tyr) single nucleotide variant PHF3-related disorder [RCV003969819] Chr6:63712458 [GRCh38]
Chr6:64422354 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001370348.2(PHF3):c.2061A>G (p.Pro687=) single nucleotide variant PHF3-related disorder [RCV003934122] Chr6:63685783 [GRCh38]
Chr6:64395684 [GRCh37]
Chr6:6q12		 likely benign
NM_001370348.2(PHF3):c.2454T>C (p.Tyr818=) single nucleotide variant PHF3-related disorder [RCV003917255] Chr6:63692001 [GRCh38]
Chr6:64401891 [GRCh37]
Chr6:6q12		 likely benign
NM_001370348.2(PHF3):c.244+7C>A single nucleotide variant PHF3-related disorder [RCV003934298] Chr6:63646802 [GRCh38]
Chr6:64356707 [GRCh37]
Chr6:6q12		 likely benign
NM_001370348.2(PHF3):c.5772T>C (p.Tyr1924=) single nucleotide variant PHF3-related disorder [RCV003906855] Chr6:63713360 [GRCh38]
Chr6:64423256 [GRCh37]
Chr6:6q12		 likely benign
NM_001142800.2(EYS):c.8241_8243del (p.Phe2747del) deletion Retinal dystrophy [RCV003891021] Chr6:63721788..63721790 [GRCh38]
Chr6:64431684..64431686 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001370348.2(PHF3):c.2163G>T (p.Gly721=) single nucleotide variant PHF3-related disorder [RCV003954494] Chr6:63685885 [GRCh38]
Chr6:64395786 [GRCh37]
Chr6:6q12		 likely benign
NM_001370348.2(PHF3):c.1803C>T (p.His601=) single nucleotide variant PHF3-related disorder [RCV003976802] Chr6:63685525 [GRCh38]
Chr6:64395426 [GRCh37]
Chr6:6q12		 likely benign
NM_001370348.2(PHF3):c.5872_5873del (p.Asp1958fs) microsatellite PHF3-related disorder [RCV003899649] Chr6:63713457..63713458 [GRCh38]
Chr6:64423353..64423354 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001370348.2(PHF3):c.3276A>C (p.Glu1092Asp) single nucleotide variant PHF3-related disorder [RCV003909421] Chr6:63703580 [GRCh38]
Chr6:64413470 [GRCh37]
Chr6:6q12		 benign
NM_001142800.2(EYS):c.8942_8943insGATA (p.Ser2983fs) insertion Retinal dystrophy [RCV003891010] Chr6:63721088..63721089 [GRCh38]
Chr6:64430984..64430985 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001142800.2(EYS):c.8687del (p.Thr2896fs) deletion Retinal dystrophy [RCV003891014] Chr6:63721344 [GRCh38]
Chr6:64431240 [GRCh37]
Chr6:6q12		 likely pathogenic
NM_001142800.2(EYS):c.8623G>C (p.Asp2875His) single nucleotide variant Retinal dystrophy [RCV003891015] Chr6:63721408 [GRCh38]
Chr6:64431304 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001142800.2(EYS):c.8469T>G (p.Ile2823Met) single nucleotide variant Retinal dystrophy [RCV003891018] Chr6:63721562 [GRCh38]
Chr6:64431458 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001142800.2(EYS):c.8236G>C (p.Asp2746His) single nucleotide variant Retinal dystrophy [RCV003891022] Chr6:63721795 [GRCh38]
Chr6:64431691 [GRCh37]
Chr6:6q12		 likely pathogenic
NM_001142800.2(EYS):c.8234G>A (p.Gly2745Asp) single nucleotide variant Retinal dystrophy [RCV003891023] Chr6:63721797 [GRCh38]
Chr6:64431693 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001370348.2(PHF3):c.3379C>T (p.Pro1127Ser) single nucleotide variant not specified [RCV004501110] Chr6:63706040 [GRCh38]
Chr6:64415930 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001370348.2(PHF3):c.2117C>T (p.Ser706Phe) single nucleotide variant not specified [RCV004501105] Chr6:63685839 [GRCh38]
Chr6:64395740 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001370348.2(PHF3):c.2393A>C (p.Lys798Thr) single nucleotide variant not specified [RCV004501106] Chr6:63691940 [GRCh38]
Chr6:64401830 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001370348.2(PHF3):c.4363A>G (p.Thr1455Ala) single nucleotide variant not specified [RCV004501112] Chr6:63711951 [GRCh38]
Chr6:64421847 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001370348.2(PHF3):c.4732A>G (p.Ile1578Val) single nucleotide variant not specified [RCV004501113] Chr6:63712320 [GRCh38]
Chr6:64422216 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001370348.2(PHF3):c.502A>G (p.Thr168Ala) single nucleotide variant not specified [RCV004501117] Chr6:63684224 [GRCh38]
Chr6:64394125 [GRCh37]
Chr6:6q12		 likely benign
NM_001370348.2(PHF3):c.5134C>G (p.Gln1712Glu) single nucleotide variant not specified [RCV004501118] Chr6:63712722 [GRCh38]
Chr6:64422618 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001370348.2(PHF3):c.824A>G (p.Glu275Gly) single nucleotide variant not specified [RCV004501125] Chr6:63684546 [GRCh38]
Chr6:64394447 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001370348.2(PHF3):c.946A>G (p.Arg316Gly) single nucleotide variant not specified [RCV004501126] Chr6:63684668 [GRCh38]
Chr6:64394569 [GRCh37]
Chr6:6q12		 likely benign
NM_001370348.2(PHF3):c.2008C>G (p.Leu670Val) single nucleotide variant not specified [RCV004501104] Chr6:63685730 [GRCh38]
Chr6:64395631 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001370348.2(PHF3):c.1517C>T (p.Pro506Leu) single nucleotide variant not specified [RCV004501101] Chr6:63685239 [GRCh38]
Chr6:64395140 [GRCh37]
Chr6:6q12		 likely benign
NM_001370348.2(PHF3):c.2498A>C (p.Glu833Ala) single nucleotide variant not specified [RCV004501107] Chr6:63694582 [GRCh38]
Chr6:64404472 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001370348.2(PHF3):c.1780C>T (p.His594Tyr) single nucleotide variant not specified [RCV004501102] Chr6:63685502 [GRCh38]
Chr6:64395403 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001142800.2(EYS):c.8236del (p.Asp2746fs) deletion Retinitis pigmentosa 25 [RCV004576485] Chr6:63721795 [GRCh38]
Chr6:64431691 [GRCh37]
Chr6:6q12		 likely pathogenic
NM_001142800.2(EYS):c.8291G>T (p.Gly2764Val) single nucleotide variant Inborn genetic diseases [RCV004385739] Chr6:63721740 [GRCh38]
Chr6:64431636 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001142800.2(EYS):c.8573del (p.Leu2858fs) deletion Retinitis pigmentosa 25 [RCV004576482] Chr6:63721458 [GRCh38]
Chr6:64431354 [GRCh37]
Chr6:6q12		 likely pathogenic
NM_001370348.2(PHF3):c.2635G>A (p.Glu879Lys) single nucleotide variant PHF3-related disorder [RCV004747430]|not specified [RCV004501109] Chr6:63694719 [GRCh38]
Chr6:64404609 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001142800.2(EYS):c.8971del (p.Thr2991fs) deletion Retinitis pigmentosa 25 [RCV004576476] Chr6:63721060 [GRCh38]
Chr6:64430956 [GRCh37]
Chr6:6q12		 likely pathogenic
NM_001142800.2(EYS):c.9278del (p.Gly3093fs) deletion Retinitis pigmentosa 25 [RCV004576475] Chr6:63720753 [GRCh38]
Chr6:64430649 [GRCh37]
Chr6:6q12		 likely pathogenic
NM_001142800.2(EYS):c.8652C>A (p.Cys2884Ter) single nucleotide variant Retinitis pigmentosa 25 [RCV004576492] Chr6:63721379 [GRCh38]
Chr6:64431275 [GRCh37]
Chr6:6q12		 likely pathogenic
NM_001370348.2(PHF3):c.491A>G (p.Lys164Arg) single nucleotide variant not specified [RCV004501115] Chr6:63684213 [GRCh38]
Chr6:64394114 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001370348.2(PHF3):c.5687G>A (p.Arg1896His) single nucleotide variant not specified [RCV004501121] Chr6:63713275 [GRCh38]
Chr6:64423171 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001370348.2(PHF3):c.1513G>A (p.Ala505Thr) single nucleotide variant not specified [RCV004501100] Chr6:63685235 [GRCh38]
Chr6:64395136 [GRCh37]
Chr6:6q12		 likely benign
NM_001370348.2(PHF3):c.4798G>A (p.Asp1600Asn) single nucleotide variant not specified [RCV004501114] Chr6:63712386 [GRCh38]
Chr6:64422282 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001370348.2(PHF3):c.2594C>G (p.Pro865Arg) single nucleotide variant not specified [RCV004501108] Chr6:63694678 [GRCh38]
Chr6:64404568 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001370348.2(PHF3):c.4043G>A (p.Arg1348His) single nucleotide variant not specified [RCV004501111] Chr6:63711631 [GRCh38]
Chr6:64421527 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001370348.2(PHF3):c.5600G>A (p.Arg1867His) single nucleotide variant not specified [RCV004501119] Chr6:63713188 [GRCh38]
Chr6:64423084 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001370348.2(PHF3):c.5609G>T (p.Gly1870Val) single nucleotide variant not specified [RCV004501120] Chr6:63713197 [GRCh38]
Chr6:64423093 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001370348.2(PHF3):c.5801G>A (p.Arg1934Gln) single nucleotide variant not specified [RCV004501122] Chr6:63713389 [GRCh38]
Chr6:64423285 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001370348.2(PHF3):c.737T>C (p.Ile246Thr) single nucleotide variant not specified [RCV004501123] Chr6:63684459 [GRCh38]
Chr6:64394360 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001142800.2(EYS):c.8350C>G (p.His2784Asp) single nucleotide variant Retinitis pigmentosa 25 [RCV004691603] Chr6:63721681 [GRCh38]
Chr6:64431577 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001370348.2(PHF3):c.5123C>T (p.Ser1708Leu) single nucleotide variant not specified [RCV004657020] Chr6:63712711 [GRCh38]
Chr6:64422607 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001370348.2(PHF3):c.5759G>A (p.Arg1920His) single nucleotide variant not specified [RCV004657021] Chr6:63713347 [GRCh38]
Chr6:64423243 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001370348.2(PHF3):c.1169C>A (p.Thr390Asn) single nucleotide variant not specified [RCV004657022] Chr6:63684891 [GRCh38]
Chr6:64394792 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001370348.2(PHF3):c.5762A>G (p.Gln1921Arg) single nucleotide variant not specified [RCV004657023] Chr6:63713350 [GRCh38]
Chr6:64423246 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001370348.2(PHF3):c.5164T>C (p.Ser1722Pro) single nucleotide variant not specified [RCV004657024] Chr6:63712752 [GRCh38]
Chr6:64422648 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001370348.2(PHF3):c.794T>C (p.Ile265Thr) single nucleotide variant not specified [RCV004657018] Chr6:63684516 [GRCh38]
Chr6:64394417 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001370348.2(PHF3):c.182A>C (p.Asn61Thr) single nucleotide variant not specified [RCV004657019] Chr6:63646733 [GRCh38]
Chr6:64356638 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001370348.2(PHF3):c.825A>C (p.Glu275Asp) single nucleotide variant not specified [RCV004657017] Chr6:63684547 [GRCh38]
Chr6:64394448 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001370348.2(PHF3):c.181A>G (p.Asn61Asp) single nucleotide variant not specified [RCV004655918] Chr6:63646732 [GRCh38]
Chr6:64356637 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001370348.2(PHF3):c.5918G>A (p.Arg1973Gln) single nucleotide variant not specified [RCV004655919] Chr6:63713506 [GRCh38]
Chr6:64423402 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001370348.2(PHF3):c.4603G>T (p.Asp1535Tyr) single nucleotide variant not specified [RCV004655920] Chr6:63712191 [GRCh38]
Chr6:64422087 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001370348.2(PHF3):c.4930C>G (p.Gln1644Glu) single nucleotide variant not specified [RCV004655921] Chr6:63712518 [GRCh38]
Chr6:64422414 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001370348.2(PHF3):c.413T>C (p.Val138Ala) single nucleotide variant not specified [RCV004655922] Chr6:63684135 [GRCh38]
Chr6:64394036 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001370348.2(PHF3):c.1186A>G (p.Ile396Val) single nucleotide variant not specified [RCV004655923] Chr6:63684908 [GRCh38]
Chr6:64394809 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001370348.2(PHF3):c.1292C>A (p.Pro431Gln) single nucleotide variant not specified [RCV004655924] Chr6:63685014 [GRCh38]
Chr6:64394915 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001370348.2(PHF3):c.5290C>A (p.His1764Asn) single nucleotide variant not specified [RCV004655925] Chr6:63712878 [GRCh38]
Chr6:64422774 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001142800.2(EYS):c.9402_9403insGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGGAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC (p.Tyr3135delinsGlyGlyIleSerAlaHisCysLysLeuArgLeuProGlySerArgHisSerProAlaSerAlaSerGlnGlyAlaGlyThrThrGlyAlaArgHisTyrAlaArgLeuIlePheCysIlePheSerArgAspGlyValSerProPheTer) insertion Retinitis pigmentosa 25 [RCV004698364] Chr6:63720628..63720629 [GRCh38]
Chr6:64430524..64430525 [GRCh37]
Chr6:6q12		 pathogenic
NM_001370348.2(PHF3):c.1822A>G (p.Lys608Glu) single nucleotide variant PHF3-related disorder [RCV004724265] Chr6:63685544 [GRCh38]
Chr6:64395445 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001370348.2(PHF3):c.1793A>C (p.Asp598Ala) single nucleotide variant PHF3-related disorder [RCV004729673] Chr6:63685515 [GRCh38]
Chr6:64395416 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001370348.2(PHF3):c.1335C>T (p.Asp445=) single nucleotide variant PHF3-related disorder [RCV004745956] Chr6:63685057 [GRCh38]
Chr6:64394958 [GRCh37]
Chr6:6q12		 likely benign
NM_001370348.2(PHF3):c.5038A>G (p.Met1680Val) single nucleotide variant PHF3-related disorder [RCV004729758] Chr6:63712626 [GRCh38]
Chr6:64422522 [GRCh37]
Chr6:6q12		 uncertain significance
NM_001370348.2(PHF3):c.612C>T (p.Ser204=) single nucleotide variant PHF3-related disorder [RCV004746862] Chr6:63684334 [GRCh38]
Chr6:64394235 [GRCh37]
Chr6:6q12		 likely benign
NM_001370348.2(PHF3):c.4748A>C (p.Glu1583Ala) single nucleotide variant PHF3-related disorder [RCV004747904] Chr6:63712336 [GRCh38]
Chr6:64422232 [GRCh37]
Chr6:6q12		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:4156
Count of miRNA genes:1290
Interacting mature miRNAs:1674
Transcripts:ENST00000262043, ENST00000393387, ENST00000420043, ENST00000481385, ENST00000494284, ENST00000503248, ENST00000505138, ENST00000506783, ENST00000509330, ENST00000509876, ENST00000514822, ENST00000515594
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
1298452OSTEAR16_HOsteoarthritis QTL 16 (human)1.850.0016Joint/bone inflammationhip osteoarthritis65725907283259072Human
407202562GWAS851538_HTourette syndrome, schizophrenia QTL GWAS851538 (human)5e-08Tourette syndrome, schizophrenia66365746863657469Human
407080265GWAS729241_Hunipolar depression, neuroticism measurement QTL GWAS729241 (human)0.000005unipolar depression, neuroticism measurement66367615963676160Human
407328587GWAS977563_HAlzheimer disease, polygenic risk score QTL GWAS977563 (human)1e-10Alzheimer disease, polygenic risk score66364311563643116Human

Markers in Region
STS-H96569  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37664,421,828 - 64,421,951UniSTSGRCh37
Build 36664,479,787 - 64,479,910RGDNCBI36
Celera662,582,365 - 62,582,488RGD
Cytogenetic Map6q12UniSTS
HuRef661,602,575 - 61,602,698UniSTS
GeneMap99-GB4 RH Map6290.91UniSTS
G35019  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37664,371,252 - 64,371,354UniSTSGRCh37
Build 36664,429,211 - 64,429,313RGDNCBI36
Celera662,531,787 - 62,531,889RGD
Cytogenetic Map6q12UniSTS
HuRef661,551,525 - 61,551,627UniSTS
SHGC-105953  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37664,401,923 - 64,402,223UniSTSGRCh37
Build 36664,459,882 - 64,460,182RGDNCBI36
Celera662,562,460 - 62,562,760RGD
Cytogenetic Map6q12UniSTS
HuRef661,582,670 - 61,582,970UniSTS
TNG Radiation Hybrid Map630257.0UniSTS
SHGC-106853  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37664,401,336 - 64,401,670UniSTSGRCh37
Build 36664,459,295 - 64,459,629RGDNCBI36
Celera662,561,873 - 62,562,207RGD
Cytogenetic Map6q12UniSTS
HuRef661,582,083 - 61,582,417UniSTS
TNG Radiation Hybrid Map630254.0UniSTS
G19628  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37664,423,617 - 64,423,821UniSTSGRCh37
Build 36664,481,576 - 64,481,780RGDNCBI36
Celera662,584,154 - 62,584,358RGD
Cytogenetic Map6q12UniSTS
HuRef661,604,364 - 61,604,568UniSTS
A001T23  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37664,423,617 - 64,423,821UniSTSGRCh37
Build 36664,481,576 - 64,481,780RGDNCBI36
Celera662,584,154 - 62,584,358RGD
Cytogenetic Map6q12UniSTS
HuRef661,604,364 - 61,604,568UniSTS
GeneMap99-GB4 RH Map6291.31UniSTS
NCBI RH Map6754.8UniSTS
D6S1215E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37664,422,605 - 64,422,709UniSTSGRCh37
Build 36664,480,564 - 64,480,668RGDNCBI36
Celera662,583,142 - 62,583,246RGD
Cytogenetic Map6q12UniSTS
HuRef661,603,352 - 61,603,456UniSTS
GeneMap99-GB4 RH Map6291.82UniSTS
NCBI RH Map6779.7UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2439 2788 2253 4974 1726 2351 6 624 1951 465 2270 7306 6472 53 3734 1 852 1744 1617 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_034034 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001290259 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001290260 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001370348 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001370349 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001370350 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_015153 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005248703 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006715426 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011535648 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047418528 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047418529 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047418530 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054354941 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054354942 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054354943 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054354944 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF091622 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK025283 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK026492 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK055678 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK290491 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK298580 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK307869 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK315868 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL050329 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL354719 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL513043 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC040583 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC113650 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC113652 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX648268 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471143 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068272 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR737498 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D87685 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000262043   ⟹   ENSP00000262043
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl663,635,802 - 63,726,011 (+)Ensembl
Ensembl Acc Id: ENST00000393387   ⟹   ENSP00000377048
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl663,646,526 - 63,714,509 (+)Ensembl
Ensembl Acc Id: ENST00000420043
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl663,777,605 - 63,779,336 (+)Ensembl
Ensembl Acc Id: ENST00000481385   ⟹   ENSP00000425227
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl663,635,823 - 63,698,245 (+)Ensembl
Ensembl Acc Id: ENST00000494284   ⟹   ENSP00000424078
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl663,635,836 - 63,694,690 (+)Ensembl
Ensembl Acc Id: ENST00000503248
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl663,702,293 - 63,706,154 (+)Ensembl
Ensembl Acc Id: ENST00000505138   ⟹   ENSP00000421417
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl663,706,800 - 63,779,208 (+)Ensembl
Ensembl Acc Id: ENST00000506783   ⟹   ENSP00000424694
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl663,635,820 - 63,709,214 (+)Ensembl
Ensembl Acc Id: ENST00000509330   ⟹   ENSP00000422841
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl663,636,481 - 63,686,324 (+)Ensembl
Ensembl Acc Id: ENST00000509876   ⟹   ENSP00000424994
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl663,636,111 - 63,714,454 (+)Ensembl
Ensembl Acc Id: ENST00000514822   ⟹   ENSP00000424197
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl663,679,685 - 63,684,245 (+)Ensembl
Ensembl Acc Id: ENST00000515594   ⟹   ENSP00000425338
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl663,635,825 - 63,712,363 (+)Ensembl
RefSeq Acc Id: NM_001290259   ⟹   NP_001277188
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38663,635,802 - 63,726,011 (+)NCBI
CHM1_1664,511,996 - 64,591,683 (+)NCBI
T2T-CHM13v2.0664,781,733 - 64,872,211 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001290260   ⟹   NP_001277189
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38663,636,481 - 63,686,324 (+)NCBI
CHM1_1664,512,675 - 64,562,504 (+)NCBI
T2T-CHM13v2.0664,782,412 - 64,832,371 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001370348   ⟹   NP_001357277
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38663,635,802 - 63,726,011 (+)NCBI
T2T-CHM13v2.0664,781,733 - 64,872,211 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001370349   ⟹   NP_001357278
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38663,635,802 - 63,726,011 (+)NCBI
T2T-CHM13v2.0664,781,733 - 64,872,211 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001370350   ⟹   NP_001357279
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38663,635,802 - 63,726,011 (+)NCBI
T2T-CHM13v2.0664,781,733 - 64,872,211 (+)NCBI
Sequence:
RefSeq Acc Id: NM_015153   ⟹   NP_055968
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38663,646,526 - 63,726,011 (+)NCBI
GRCh37664,345,707 - 64,424,407 (+)NCBI
Build 36664,414,390 - 64,482,364 (+)NCBI Archive
Celera662,516,983 - 62,584,942 (+)RGD
HuRef661,536,716 - 61,605,152 (+)ENTREZGENE
CHM1_1664,522,719 - 64,591,683 (+)NCBI
T2T-CHM13v2.0664,792,456 - 64,872,211 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011535648   ⟹   XP_011533950
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38663,636,103 - 63,726,011 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047418528   ⟹   XP_047274484
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38663,646,526 - 63,726,011 (+)NCBI
RefSeq Acc Id: XM_047418529   ⟹   XP_047274485
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38663,636,481 - 63,726,011 (+)NCBI
RefSeq Acc Id: XM_047418530   ⟹   XP_047274486
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38663,646,526 - 63,726,011 (+)NCBI
RefSeq Acc Id: XM_054354941   ⟹   XP_054210916
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0664,782,182 - 64,872,211 (+)NCBI
RefSeq Acc Id: XM_054354942   ⟹   XP_054210917
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0664,782,412 - 64,872,211 (+)NCBI
RefSeq Acc Id: XM_054354943   ⟹   XP_054210918
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0664,792,456 - 64,872,211 (+)NCBI
RefSeq Acc Id: XM_054354944   ⟹   XP_054210919
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0664,792,456 - 64,872,211 (+)NCBI
Protein Sequences
Protein RefSeqs NP_001277188 (Get FASTA)   NCBI Sequence Viewer  
  NP_001277189 (Get FASTA)   NCBI Sequence Viewer  
  NP_001357277 (Get FASTA)   NCBI Sequence Viewer  
  NP_001357278 (Get FASTA)   NCBI Sequence Viewer  
  NP_001357279 (Get FASTA)   NCBI Sequence Viewer  
  NP_055968 (Get FASTA)   NCBI Sequence Viewer  
  XP_011533950 (Get FASTA)   NCBI Sequence Viewer  
  XP_047274484 (Get FASTA)   NCBI Sequence Viewer  
  XP_047274485 (Get FASTA)   NCBI Sequence Viewer  
  XP_047274486 (Get FASTA)   NCBI Sequence Viewer  
  XP_054210916 (Get FASTA)   NCBI Sequence Viewer  
  XP_054210917 (Get FASTA)   NCBI Sequence Viewer  
  XP_054210918 (Get FASTA)   NCBI Sequence Viewer  
  XP_054210919 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAF21292 (Get FASTA)   NCBI Sequence Viewer  
  AAI13651 (Get FASTA)   NCBI Sequence Viewer  
  AAI13653 (Get FASTA)   NCBI Sequence Viewer  
  BAA13438 (Get FASTA)   NCBI Sequence Viewer  
  BAF83180 (Get FASTA)   NCBI Sequence Viewer  
  BAF98759 (Get FASTA)   NCBI Sequence Viewer  
  BAG51553 (Get FASTA)   NCBI Sequence Viewer  
  BAG60771 (Get FASTA)   NCBI Sequence Viewer  
  CAI56715 (Get FASTA)   NCBI Sequence Viewer  
  CAM45842 (Get FASTA)   NCBI Sequence Viewer  
  EAW88496 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000262043
  ENSP00000262043.4
  ENSP00000377048
  ENSP00000377048.1
  ENSP00000421417.1
  ENSP00000422841
  ENSP00000422841.1
  ENSP00000424078.1
  ENSP00000424197.1
  ENSP00000424694.1
  ENSP00000424994.1
  ENSP00000425227.1
  ENSP00000425338.1
GenBank Protein Q92576 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_055968   ⟸   NM_015153
- Peptide Label: isoform 1
- UniProtKB: Q9NQ16 (UniProtKB/Swiss-Prot),   Q5T1T6 (UniProtKB/Swiss-Prot),   Q5CZI1 (UniProtKB/Swiss-Prot),   Q14CR5 (UniProtKB/Swiss-Prot),   A3KFI8 (UniProtKB/Swiss-Prot),   Q9UI45 (UniProtKB/Swiss-Prot),   Q92576 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001277188   ⟸   NM_001290259
- Peptide Label: isoform 2
- UniProtKB: Q92576 (UniProtKB/Swiss-Prot),   B3KP41 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001277189   ⟸   NM_001290260
- Peptide Label: isoform 3
- UniProtKB: D6R9X2 (UniProtKB/TrEMBL),   A8K376 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011533950   ⟸   XM_011535648
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: NP_001357277   ⟸   NM_001370348
- Peptide Label: isoform 1
- UniProtKB: Q9NQ16 (UniProtKB/Swiss-Prot),   Q92576 (UniProtKB/Swiss-Prot),   Q5T1T6 (UniProtKB/Swiss-Prot),   Q5CZI1 (UniProtKB/Swiss-Prot),   Q14CR5 (UniProtKB/Swiss-Prot),   A3KFI8 (UniProtKB/Swiss-Prot),   Q9UI45 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: NP_001357279   ⟸   NM_001370350
- Peptide Label: isoform 4
RefSeq Acc Id: NP_001357278   ⟸   NM_001370349
- Peptide Label: isoform 2
Ensembl Acc Id: ENSP00000421417   ⟸   ENST00000505138
Ensembl Acc Id: ENSP00000424694   ⟸   ENST00000506783
Ensembl Acc Id: ENSP00000424078   ⟸   ENST00000494284
Ensembl Acc Id: ENSP00000422841   ⟸   ENST00000509330
Ensembl Acc Id: ENSP00000425227   ⟸   ENST00000481385
Ensembl Acc Id: ENSP00000424994   ⟸   ENST00000509876
Ensembl Acc Id: ENSP00000377048   ⟸   ENST00000393387
Ensembl Acc Id: ENSP00000262043   ⟸   ENST00000262043
Ensembl Acc Id: ENSP00000424197   ⟸   ENST00000514822
Ensembl Acc Id: ENSP00000425338   ⟸   ENST00000515594
RefSeq Acc Id: XP_047274485   ⟸   XM_047418529
- Peptide Label: isoform X2
RefSeq Acc Id: XP_047274484   ⟸   XM_047418528
- Peptide Label: isoform X2
RefSeq Acc Id: XP_047274486   ⟸   XM_047418530
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054210916   ⟸   XM_054354941
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054210917   ⟸   XM_054354942
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054210919   ⟸   XM_054354944
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054210918   ⟸   XM_054354943
- Peptide Label: isoform X2
Protein Domains
PHD-type   Spen paralogue and orthologue SPOC C-terminal   TFIIS central

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q92576-F1-model_v2 AlphaFold Q92576 1-2039 view protein structure

Promoters
RGD ID:7208425
Promoter ID:EPDNEW_H9957
Type:initiation region
Name:PHF3_2
Description:PHD finger protein 3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H9958  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38663,635,825 - 63,635,885EPDNEW
RGD ID:7208423
Promoter ID:EPDNEW_H9958
Type:initiation region
Name:PHF3_1
Description:PHD finger protein 3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H9957  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38663,636,123 - 63,636,183EPDNEW
RGD ID:6804533
Promoter ID:HG_KWN:53981
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000262043,   OTTHUMT00000041087,   UC003PEM.2,   UC003PEN.2,   UC003PEO.2,   UC010KAF.1,   UC010KAG.1,   UC010KAH.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36664,403,491 - 64,404,627 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:8921 AgrOrtholog
COSMIC PHF3 COSMIC
Ensembl Genes ENSG00000118482 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000262043 ENTREZGENE
  ENST00000262043.8 UniProtKB/Swiss-Prot
  ENST00000393387 ENTREZGENE
  ENST00000393387.5 UniProtKB/Swiss-Prot
  ENST00000481385.6 UniProtKB/TrEMBL
  ENST00000494284.6 UniProtKB/TrEMBL
  ENST00000505138.1 UniProtKB/TrEMBL
  ENST00000506783.5 UniProtKB/TrEMBL
  ENST00000509330 ENTREZGENE
  ENST00000509330.5 UniProtKB/TrEMBL
  ENST00000509876.5 UniProtKB/TrEMBL
  ENST00000514822.1 UniProtKB/TrEMBL
  ENST00000515594.5 UniProtKB/TrEMBL
Gene3D-CATH 1.10.472.30 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.30.40.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000118482 GTEx
HGNC ID HGNC:8921 ENTREZGENE
Human Proteome Map PHF3 Human Proteome Map
InterPro SPOC_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TFIIS_cen_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TFIIS_cen_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Zinc_finger_PHD-type_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_FYVE_PHD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_PHD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_PHD-finger UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_RING/FYVE/PHD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:23469 UniProtKB/Swiss-Prot
NCBI Gene 23469 ENTREZGENE
OMIM 607789 OMIM
PANTHER PHD FINGER PROTEIN 3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TRANSCRIPTION FACTOR S-II ZINC FINGER DOMAIN-CONTAINING PROTEIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam PHD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SPOC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TFIIS_M UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA33261 PharmGKB
PROSITE TFIIS_CENTRAL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ZF_PHD_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ZF_PHD_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART PHD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TFS2M UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF46942 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF57903 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A1B0GX99_HUMAN UniProtKB/TrEMBL
  A3KFI8 ENTREZGENE
  A8K376 ENTREZGENE, UniProtKB/TrEMBL
  B3KP41 ENTREZGENE, UniProtKB/TrEMBL
  D6R9X2 ENTREZGENE, UniProtKB/TrEMBL
  D6RBF0_HUMAN UniProtKB/TrEMBL
  D6REP0_HUMAN UniProtKB/TrEMBL
  E7ER40_HUMAN UniProtKB/TrEMBL
  E7EVH3_HUMAN UniProtKB/TrEMBL
  E9PE34_HUMAN UniProtKB/TrEMBL
  H0Y8L0_HUMAN UniProtKB/TrEMBL
  PHF3_HUMAN UniProtKB/Swiss-Prot
  Q14CR5 ENTREZGENE
  Q5CZI1 ENTREZGENE
  Q5T1T6 ENTREZGENE
  Q92576 ENTREZGENE
  Q9NQ16 ENTREZGENE
  Q9UI45 ENTREZGENE
UniProt Secondary A0A0A6YYS8 UniProtKB/TrEMBL
  A0A0K0K1F3 UniProtKB/TrEMBL
  A3KFI8 UniProtKB/Swiss-Prot
  F6UN30 UniProtKB/TrEMBL
  Q14CR5 UniProtKB/Swiss-Prot
  Q5CZI1 UniProtKB/Swiss-Prot
  Q5T1T6 UniProtKB/Swiss-Prot
  Q9NQ16 UniProtKB/Swiss-Prot
  Q9UI45 UniProtKB/Swiss-Prot