IMPG1 (interphotoreceptor matrix proteoglycan 1) - Rat Genome Database

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Gene: IMPG1 (interphotoreceptor matrix proteoglycan 1) Homo sapiens
Analyze
Symbol: IMPG1
Name: interphotoreceptor matrix proteoglycan 1
RGD ID: 1352807
HGNC Page HGNC:6055
Description: Predicted to enable chondroitin sulfate binding activity; heparin binding activity; and hyaluronic acid binding activity. Predicted to be involved in visual perception. Predicted to act upstream of or within extracellular matrix organization. Predicted to be located in extracellular matrix. Implicated in retinitis pigmentosa and vitelliform macular dystrophy.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: GP147; interphotoreceptor matrix proteoglycan of 150 kDa; IPM-150; IPM150; RP91; sialoprotein associated with cones and rods; SPACR; VMD4
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
GRCh38675,921,114 - 76,072,662 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl675,921,114 - 76,072,678 (-)EnsemblGRCh38hg38GRCh38
GRCh37676,630,831 - 76,782,379 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36676,687,782 - 76,839,055 (-)NCBINCBI36Build 36hg18NCBI36
Build 34676,687,781 - 76,839,055NCBI
Celera677,024,393 - 77,175,569 (-)NCBICelera
Cytogenetic Map6q14.1NCBI
HuRef673,829,832 - 73,981,002 (-)NCBIHuRef
CHM1_1676,797,312 - 76,948,513 (-)NCBICHM1_1
T2T-CHM13v2.0677,097,995 - 77,249,656 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


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

Biological Process

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal central response of multifocal electroretinogram  (IAGP)
Abnormal electroretinogram  (IAGP)
Abnormal full-field electroretinogram  (IAGP)
Abnormal retinal vascular morphology  (IAGP)
Abnormality of retinal pigmentation  (IAGP)
Abnormality of the eye  (IAGP)
Abnormality of vision  (IAGP)
Adult onset  (IAGP)
Attenuation of retinal blood vessels  (IAGP)
Autosomal dominant inheritance  (IAGP)
Blindness  (IAGP)
Bone spicule pigmentation of the retina  (IAGP)
Choroideremia  (IAGP)
Color vision defect  (IAGP)
Conductive hearing impairment  (IAGP)
Cystoid macular edema  (IAGP)
Decreased Arden ratio of electrooculogram  (IAGP)
Drusen  (IAGP)
Dyschromatopsia  (IAGP)
Foveal hyperpigmentation  (IAGP)
Glaucoma  (IAGP)
Hyperinsulinemia  (IAGP)
Iris hypopigmentation  (IAGP)
Keratoconus  (IAGP)
Macular dystrophy  (IAGP)
Moderately reduced visual acuity  (IAGP)
Nyctalopia  (IAGP)
Nystagmus  (IAGP)
Ophthalmoplegia  (IAGP)
Optic atrophy  (IAGP)
Optic disc drusen  (IAGP)
Optic disc pallor  (IAGP)
Peripheral visual field loss  (IAGP)
Photophobia  (IAGP)
Photopsia  (IAGP)
Photoreceptor outer segment loss on macular OCT  (IAGP)
Posterior subcapsular cataract  (IAGP)
Progressive night blindness  (IAGP)
Reduced visual acuity  (IAGP)
Retinal atrophy  (IAGP)
Retinal degeneration  (IAGP)
Retinal dystrophy  (IAGP)
Retinal nonattachment  (IAGP)
Rod-cone dystrophy  (IAGP)
Sensorineural hearing impairment  (IAGP)
Visual field defect  (IAGP)
Visual impairment  (IAGP)
Vitelliform-like macular lesions  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
4. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:8889548   PMID:9691169   PMID:9719369   PMID:9719680   PMID:9813076   PMID:10601738   PMID:12107410   PMID:12477932   PMID:14574404   PMID:14691150   PMID:15489334   PMID:16354621  
PMID:17286855   PMID:20201926   PMID:20379614   PMID:23402259   PMID:23993198   PMID:25085631   PMID:25231870   PMID:29777959   PMID:32817297   PMID:33961781  


Genomics

Comparative Map Data
IMPG1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38675,921,114 - 76,072,662 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl675,921,114 - 76,072,678 (-)EnsemblGRCh38hg38GRCh38
GRCh37676,630,831 - 76,782,379 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36676,687,782 - 76,839,055 (-)NCBINCBI36Build 36hg18NCBI36
Build 34676,687,781 - 76,839,055NCBI
Celera677,024,393 - 77,175,569 (-)NCBICelera
Cytogenetic Map6q14.1NCBI
HuRef673,829,832 - 73,981,002 (-)NCBIHuRef
CHM1_1676,797,312 - 76,948,513 (-)NCBICHM1_1
T2T-CHM13v2.0677,097,995 - 77,249,656 (-)NCBIT2T-CHM13v2.0
Impg1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39980,215,467 - 80,347,707 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl980,220,612 - 80,347,534 (-)EnsemblGRCm39 Ensembl
GRCm38980,312,773 - 80,465,654 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl980,313,330 - 80,465,481 (-)EnsemblGRCm38mm10GRCm38
MGSCv37980,328,600 - 80,359,045 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv37980,161,137 - 80,252,614 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36980,098,771 - 80,190,491 (-)NCBIMGSCv36mm8
Celera977,456,948 - 77,581,047 (-)NCBICelera
Cytogenetic Map9E1NCBI
cM Map943.99NCBI
Impg1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8890,123,821 - 90,269,903 (-)NCBIGRCr8
mRatBN7.2881,243,624 - 81,389,722 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl881,243,624 - 81,389,722 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx886,771,096 - 86,917,445 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0885,048,238 - 85,194,590 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0882,870,882 - 83,017,048 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0887,733,374 - 87,879,958 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl887,733,545 - 87,879,888 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0887,271,174 - 87,416,431 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4885,372,670 - 85,523,184 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1885,392,124 - 85,513,426 (-)NCBI
Celera880,965,165 - 81,108,510 (-)NCBICelera
Cytogenetic Map8q31NCBI
Impg1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_0049555024,359,071 - 4,502,623 (-)NCBIChiLan1.0ChiLan1.0
IMPG1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2595,969,739 - 96,096,728 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1693,850,408 - 93,977,427 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0673,765,927 - 73,892,918 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1677,054,893 - 77,180,578 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl677,055,866 - 77,211,813 (-)Ensemblpanpan1.1panPan2
IMPG1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11237,506,511 - 37,614,683 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1237,507,525 - 37,638,250 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1237,386,127 - 37,500,315 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01238,291,434 - 38,405,667 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1238,292,450 - 38,423,152 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11237,614,190 - 37,728,097 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01237,604,075 - 37,718,507 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01237,733,410 - 37,847,683 (-)NCBIUU_Cfam_GSD_1.0
Impg1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494672,886,398 - 73,019,688 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049367881,268,614 - 1,401,998 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049367881,258,547 - 1,401,910 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
IMPG1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl189,836,050 - 89,987,397 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1189,836,013 - 89,986,530 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21100,849,075 - 100,966,111 (+)NCBISscrofa10.2Sscrofa10.2susScr3
IMPG1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.113624,694 - 783,466 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl13625,891 - 750,525 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666040176,929,491 - 177,077,167 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Impg1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248193,002,718 - 3,030,007 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in IMPG1
664 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001563.4(IMPG1):c.1949C>A (p.Thr650Asn) single nucleotide variant not provided [RCV003051262] Chr6:75947409 [GRCh38]
Chr6:76657126 [GRCh37]
Chr6:76713846 [NCBI36]
Chr6:6q14.1		 uncertain significance|not provided
NM_001563.3(IMPG1):c.791G>A (p.Gly264Glu) single nucleotide variant Malignant melanoma [RCV000061491] Chr6:76018734 [GRCh38]
Chr6:76728451 [GRCh37]
Chr6:76785171 [NCBI36]
Chr6:6q14.1		 not provided
NM_001563.4(IMPG1):c.1519C>T (p.Arg507Ter) single nucleotide variant IMPG1-related disorder [RCV004755779]|Vitelliform macular dystrophy 4 [RCV000149549]|not provided [RCV001223494] Chr6:75950867 [GRCh38]
Chr6:76660584 [GRCh37]
Chr6:6q14.1		 pathogenic|uncertain significance|not provided
GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3 copy number gain See cases [RCV000139729] Chr6:74382807..142040500 [GRCh38]
Chr6:75092523..142361637 [GRCh37]
Chr6:75149243..142403330 [NCBI36]
Chr6:6q13-24.1		 pathogenic
GRCh38/hg38 6q14.1(chr6:75655832-76509933)x3 copy number gain See cases [RCV000140865] Chr6:75655832..76509933 [GRCh38]
Chr6:76365548..77219650 [GRCh37]
Chr6:76422268..77276369 [NCBI36]
Chr6:6q14.1		 uncertain significance
GRCh38/hg38 6q14.1(chr6:75787242-76453312)x3 copy number gain See cases [RCV000142254] Chr6:75787242..76453312 [GRCh38]
Chr6:76496959..77163029 [GRCh37]
Chr6:76553679..77219749 [NCBI36]
Chr6:6q14.1		 likely benign
GRCh38/hg38 6q12-14.2(chr6:64549655-83426791)x1 copy number loss See cases [RCV000142527] Chr6:64549655..83426791 [GRCh38]
Chr6:65259548..84136510 [GRCh37]
Chr6:65316269..84193229 [NCBI36]
Chr6:6q12-14.2		 pathogenic
GRCh38/hg38 6q14.1-16.1(chr6:75926199-92710793)x1 copy number loss See cases [RCV000143505] Chr6:75926199..92710793 [GRCh38]
Chr6:76635916..93420511 [GRCh37]
Chr6:76692636..93477232 [NCBI36]
Chr6:6q14.1-16.1		 pathogenic
NM_001563.4(IMPG1):c.713T>G (p.Leu238Arg) single nucleotide variant Vitelliform macular dystrophy 4 [RCV000149547] Chr6:76018812 [GRCh38]
Chr6:76728529 [GRCh37]
Chr6:6q14.1		 pathogenic|not provided
NM_001563.4(IMPG1):c.807+1G>T single nucleotide variant Vitelliform macular dystrophy 4 [RCV000149548] Chr6:76018717 [GRCh38]
Chr6:76728434 [GRCh37]
Chr6:6q14.1		 pathogenic
NM_001563.4(IMPG1):c.461T>C (p.Leu154Pro) single nucleotide variant Retinal dystrophy [RCV001075243]|Vitelliform macular dystrophy 4 [RCV000149550]|not provided [RCV001213189] Chr6:76034628 [GRCh38]
Chr6:76744345 [GRCh37]
Chr6:6q14.1		 pathogenic|likely pathogenic|uncertain significance|not provided
NM_001563.4(IMPG1):c.1963G>A (p.Gly655Arg) single nucleotide variant not provided [RCV001368087] Chr6:75947395 [GRCh38]
Chr6:76657112 [GRCh37]
Chr6:6q14.1		 uncertain significance
GRCh37/hg19 6q14.1(chr6:76621150-76780723)x1 copy number loss See cases [RCV000446263] Chr6:76621150..76780723 [GRCh37]
Chr6:6q14.1		 likely pathogenic
NM_001563.4(IMPG1):c.1157C>A (p.Ala386Asp) single nucleotide variant Macular dystrophy [RCV000504831]|not provided [RCV001226435] Chr6:76003929 [GRCh38]
Chr6:76713646 [GRCh37]
Chr6:6q14.1		 likely pathogenic|uncertain significance
NM_001563.4(IMPG1):c.646G>A (p.Asp216Asn) single nucleotide variant IMPG1-related disorder [RCV004756240]|not provided [RCV001412262] Chr6:76022136 [GRCh38]
Chr6:76731853 [GRCh37]
Chr6:6q14.1		 likely benign
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_001563.4(IMPG1):c.2T>A (p.Met1Lys) single nucleotide variant IMPG1-related disorder [RCV004756192]|not provided [RCV001214152] Chr6:76072487 [GRCh38]
Chr6:76782204 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.378G>A (p.Trp126Ter) single nucleotide variant Isolated macular dystrophy [RCV001199479]|Retinal dystrophy [RCV004817781]|not provided [RCV000585028] Chr6:76034711 [GRCh38]
Chr6:76744428 [GRCh37]
Chr6:6q14.1		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_001563.4(IMPG1):c.674A>T (p.Glu225Val) single nucleotide variant not specified [RCV004329191] Chr6:76018851 [GRCh38]
Chr6:76728568 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.1291+1G>T single nucleotide variant Retinitis pigmentosa [RCV001199480]|not provided [RCV000659059] Chr6:76002917 [GRCh38]
Chr6:76712634 [GRCh37]
Chr6:6q14.1		 pathogenic|likely pathogenic
GRCh37/hg19 6q13-14.2(chr6:73674612-84829774)x1 copy number loss not provided [RCV000682681] Chr6:73674612..84829774 [GRCh37]
Chr6:6q13-14.2		 pathogenic
NM_001563.4(IMPG1):c.1276G>A (p.Glu426Lys) single nucleotide variant Retinal dystrophy [RCV004814200] Chr6:76002933 [GRCh38]
Chr6:76712650 [GRCh37]
Chr6:6q14.1		 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
NM_005795.6(CALCRL):c.782-58T>C variation Benign concentric annular macular dystrophy [RCV001637982]   pathogenic
NM_001563.4(IMPG1):c.2218C>T (p.Leu740Phe) single nucleotide variant not provided [RCV001053437] Chr6:75930978 [GRCh38]
Chr6:76640695 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.175C>T (p.Arg59Ter) single nucleotide variant not provided [RCV000760627] Chr6:76042019 [GRCh38]
Chr6:76751736 [GRCh37]
Chr6:6q14.1		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_001563.4(IMPG1):c.1758_1824+8del deletion not provided [RCV000998654] Chr6:75950554..75950628 [GRCh38]
Chr6:76660271..76660345 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.1292-7T>G single nucleotide variant not provided [RCV000950148] Chr6:75951101 [GRCh38]
Chr6:76660818 [GRCh37]
Chr6:6q14.1		 benign|likely benign
NM_001563.4(IMPG1):c.173G>A (p.Arg58Lys) single nucleotide variant not provided [RCV000879584]|not specified [RCV001701342] Chr6:76042021 [GRCh38]
Chr6:76751738 [GRCh37]
Chr6:6q14.1		 benign
NM_001563.4(IMPG1):c.1945C>T (p.Leu649Phe) single nucleotide variant not provided [RCV000879622] Chr6:75947413 [GRCh38]
Chr6:76657130 [GRCh37]
Chr6:6q14.1		 benign
NM_001563.4(IMPG1):c.667-9del deletion not provided [RCV000948310] Chr6:76018867 [GRCh38]
Chr6:76728584 [GRCh37]
Chr6:6q14.1		 benign
NM_001563.4(IMPG1):c.2294T>C (p.Phe765Ser) single nucleotide variant not provided [RCV001039791] Chr6:75923656 [GRCh38]
Chr6:76633373 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.130A>G (p.Thr44Ala) single nucleotide variant not provided [RCV001068167] Chr6:76042064 [GRCh38]
Chr6:76751781 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.807+1G>A single nucleotide variant not provided [RCV001068195] Chr6:76018717 [GRCh38]
Chr6:76728434 [GRCh37]
Chr6:6q14.1		 pathogenic|uncertain significance
NC_000006.12:g.(?_76007480)_(76007600_?)del deletion not provided [RCV001031046] Chr6:76717197..76717317 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.178A>T (p.Ile60Leu) single nucleotide variant not provided [RCV001041261] Chr6:76042016 [GRCh38]
Chr6:76751733 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.169A>G (p.Met57Val) single nucleotide variant Retinal dystrophy [RCV004813683]|not provided [RCV001064557]|not specified [RCV004030544] Chr6:76042025 [GRCh38]
Chr6:76751742 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.713T>C (p.Leu238Pro) single nucleotide variant Retinal dystrophy [RCV001073254]|not provided [RCV001362405] Chr6:76018812 [GRCh38]
Chr6:76728529 [GRCh37]
Chr6:6q14.1		 likely pathogenic|uncertain significance
NM_001563.4(IMPG1):c.1972G>A (p.Glu658Lys) single nucleotide variant Retinal dystrophy [RCV001074356]|not provided [RCV001862826] Chr6:75947386 [GRCh38]
Chr6:76657103 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.1350C>G (p.Phe450Leu) single nucleotide variant Retinal dystrophy [RCV001074384] Chr6:75951036 [GRCh38]
Chr6:76660753 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.1292-3C>A single nucleotide variant Retinal dystrophy [RCV001074406]|not provided [RCV001862559] Chr6:75951097 [GRCh38]
Chr6:76660814 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.262C>T (p.Gln88Ter) single nucleotide variant Retinal dystrophy [RCV001074720] Chr6:76041932 [GRCh38]
Chr6:76751649 [GRCh37]
Chr6:6q14.1		 likely pathogenic
NM_001563.4(IMPG1):c.2391T>C (p.Asn797=) single nucleotide variant Retinal dystrophy [RCV001074970]|not provided [RCV003769000] Chr6:75922092 [GRCh38]
Chr6:76631809 [GRCh37]
Chr6:6q14.1		 likely benign|uncertain significance
NM_001563.4(IMPG1):c.326C>A (p.Ala109Glu) single nucleotide variant not provided [RCV001043320] Chr6:76034763 [GRCh38]
Chr6:76744480 [GRCh37]
Chr6:6q14.1		 uncertain significance
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_001563.4(IMPG1):c.1413C>T (p.Asp471=) single nucleotide variant not provided [RCV000880403] Chr6:75950973 [GRCh38]
Chr6:76660690 [GRCh37]
Chr6:6q14.1		 benign
GRCh37/hg19 6q14.1(chr6:76754613-77353189)x1 copy number loss not provided [RCV001005820] Chr6:76754613..77353189 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.2134T>C (p.Cys712Arg) single nucleotide variant not provided [RCV001055605] Chr6:75931062 [GRCh38]
Chr6:76640779 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.541G>A (p.Glu181Lys) single nucleotide variant not provided [RCV001058504] Chr6:76025215 [GRCh38]
Chr6:76734932 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.540T>G (p.Gly180=) single nucleotide variant not provided [RCV000965015]|not specified [RCV001701270] Chr6:76025216 [GRCh38]
Chr6:76734933 [GRCh37]
Chr6:6q14.1		 benign
GRCh37/hg19 6q14.1(chr6:76464395-77139646)x3 copy number gain not provided [RCV001005817] Chr6:76464395..77139646 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.574G>A (p.Val192Ile) single nucleotide variant not provided [RCV001062570] Chr6:76022208 [GRCh38]
Chr6:76731925 [GRCh37]
Chr6:6q14.1		 uncertain significance
GRCh37/hg19 6q14.1(chr6:76604309-76932770)x1 copy number loss not provided [RCV001005819] Chr6:76604309..76932770 [GRCh37]
Chr6:6q14.1		 uncertain significance
GRCh37/hg19 6q14.1(chr6:76553385-77701754)x3 copy number gain not provided [RCV001005818] Chr6:76553385..77701754 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.287A>T (p.Tyr96Phe) single nucleotide variant not provided [RCV001054973] Chr6:76041907 [GRCh38]
Chr6:76751624 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.1823T>C (p.Leu608Pro) single nucleotide variant not provided [RCV001246821] Chr6:75950563 [GRCh38]
Chr6:76660280 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.5A>G (p.Tyr2Cys) single nucleotide variant not provided [RCV001213540] Chr6:76072484 [GRCh38]
Chr6:76782201 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.761C>T (p.Ser254Phe) single nucleotide variant not provided [RCV001236781] Chr6:76018764 [GRCh38]
Chr6:76728481 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.1870G>A (p.Glu624Lys) single nucleotide variant not provided [RCV001205863] Chr6:75947488 [GRCh38]
Chr6:76657205 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.1981C>T (p.Arg661Cys) single nucleotide variant not provided [RCV001205887]|not specified [RCV004033660] Chr6:75947377 [GRCh38]
Chr6:76657094 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.214G>A (p.Ala72Thr) single nucleotide variant Retinal dystrophy [RCV003887913]|not provided [RCV001214008] Chr6:76041980 [GRCh38]
Chr6:76751697 [GRCh37]
Chr6:6q14.1		 benign|uncertain significance
NM_001563.4(IMPG1):c.1739G>A (p.Arg580His) single nucleotide variant not provided [RCV001239098] Chr6:75950647 [GRCh38]
Chr6:76660364 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.68-9_68-6del microsatellite not provided [RCV001240897] Chr6:76042132..76042135 [GRCh38]
Chr6:76751849..76751852 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.2350G>A (p.Val784Ile) single nucleotide variant not provided [RCV001217411]|not specified [RCV004034033] Chr6:75922133 [GRCh38]
Chr6:76631850 [GRCh37]
Chr6:6q14.1		 likely benign|uncertain significance
NM_001563.4(IMPG1):c.2045-10T>A single nucleotide variant IMPG1-related disorder [RCV003963142]|not provided [RCV001234822] Chr6:75931161 [GRCh38]
Chr6:76640878 [GRCh37]
Chr6:6q14.1		 likely benign|uncertain significance
NM_001563.4(IMPG1):c.487_488del (p.Phe163fs) deletion not provided [RCV001237956] Chr6:76034324..76034325 [GRCh38]
Chr6:76744041..76744042 [GRCh37]
Chr6:6q14.1		 pathogenic|uncertain significance
NM_001563.4(IMPG1):c.1010A>G (p.His337Arg) single nucleotide variant Retinal dystrophy [RCV003887952]|not provided [RCV001241026]|not specified [RCV004034669] Chr6:76005412 [GRCh38]
Chr6:76715129 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.1903G>T (p.Val635Leu) single nucleotide variant not provided [RCV001230194] Chr6:75947455 [GRCh38]
Chr6:76657172 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.226A>G (p.Thr76Ala) single nucleotide variant not provided [RCV001211411]|not specified [RCV004927664] Chr6:76041968 [GRCh38]
Chr6:76751685 [GRCh37]
Chr6:6q14.1		 uncertain significance
NC_000006.11:g.(?_76633331)_(76633443_?)del deletion not provided [RCV003107433] Chr6:76633331..76633443 [GRCh37]
Chr6:6q14.1		 uncertain significance
NC_000006.11:g.(?_76657011)_(76660831_?)del deletion not provided [RCV003107434] Chr6:76657011..76660831 [GRCh37]
Chr6:6q14.1		 uncertain significance
NC_000006.11:g.(?_76712615)_(76782205_?)dup duplication not provided [RCV003107435] Chr6:76712615..76782205 [GRCh37]
Chr6:6q14.1		 uncertain significance
NC_000006.11:g.(?_76527265)_(76660831_?)dup duplication not provided [RCV003107436] Chr6:76527265..76660831 [GRCh37]
Chr6:6q14.1		 uncertain significance
NC_000006.11:g.(?_76728415)_(76728595_?)del deletion not provided [RCV003107437] Chr6:76728415..76728595 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.361G>C (p.Gly121Arg) single nucleotide variant Retinal dystrophy [RCV004814281] Chr6:76034728 [GRCh38]
Chr6:76744445 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.667-22dup duplication not specified [RCV001700554] Chr6:76018866..76018867 [GRCh38]
Chr6:76728583..76728584 [GRCh37]
Chr6:6q14.1		 benign
NM_001563.4(IMPG1):c.809T>G (p.Met270Arg) single nucleotide variant not provided [RCV001700627] Chr6:76011223 [GRCh38]
Chr6:76720940 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.2103G>T (p.Lys701Asn) single nucleotide variant not provided [RCV001218309] Chr6:75931093 [GRCh38]
Chr6:76640810 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.1153C>G (p.Pro385Ala) single nucleotide variant not provided [RCV001243092] Chr6:76003933 [GRCh38]
Chr6:76713650 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.755C>G (p.Ala252Gly) single nucleotide variant not provided [RCV001248515] Chr6:76018770 [GRCh38]
Chr6:76728487 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.1936C>G (p.Pro646Ala) single nucleotide variant not provided [RCV001240200] Chr6:75947422 [GRCh38]
Chr6:76657139 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.914C>T (p.Thr305Met) single nucleotide variant not provided [RCV001227816] Chr6:76005508 [GRCh38]
Chr6:76715225 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.1891G>A (p.Gly631Arg) single nucleotide variant not provided [RCV001228032] Chr6:75947467 [GRCh38]
Chr6:76657184 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.1343C>T (p.Pro448Leu) single nucleotide variant not provided [RCV001228096] Chr6:75951043 [GRCh38]
Chr6:76660760 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.1147T>A (p.Ser383Thr) single nucleotide variant not provided [RCV001244133]|not specified [RCV004629517] Chr6:76003939 [GRCh38]
Chr6:76713656 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.2124G>A (p.Ala708=) single nucleotide variant not provided [RCV000911179] Chr6:75931072 [GRCh38]
Chr6:76640789 [GRCh37]
Chr6:6q14.1		 benign
NM_001563.4(IMPG1):c.1956T>A (p.Ala652=) single nucleotide variant not provided [RCV000891482] Chr6:75947402 [GRCh38]
Chr6:76657119 [GRCh37]
Chr6:6q14.1		 benign
NM_001563.4(IMPG1):c.498-1G>C single nucleotide variant Retinal dystrophy [RCV004814354] Chr6:76025259 [GRCh38]
Chr6:76734976 [GRCh37]
Chr6:6q14.1		 pathogenic
NM_001563.4(IMPG1):c.742A>C (p.Lys248Gln) single nucleotide variant Retinitis pigmentosa [RCV002466868] Chr6:76018783 [GRCh38]
Chr6:76728500 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.807+5G>A single nucleotide variant Retinal dystrophy [RCV004815582]|Vitelliform macular dystrophy 4 [RCV001637977] Chr6:76018713 [GRCh38]
Chr6:76728430 [GRCh37]
Chr6:6q14.1		 pathogenic
NM_001563.4(IMPG1):c.1824+1G>A single nucleotide variant Benign concentric annular macular dystrophy [RCV001637979]|Retinitis pigmentosa [RCV003324567]|Vitelliform macular dystrophy 4 [RCV001637980]|not provided [RCV002538519] Chr6:75950561 [GRCh38]
Chr6:76660278 [GRCh37]
Chr6:6q14.1		 pathogenic|likely pathogenic
NM_001563.4(IMPG1):c.960T>A (p.Ser320Arg) single nucleotide variant Vitelliform macular dystrophy 4 [RCV001637981] Chr6:76005462 [GRCh38]
Chr6:76715179 [GRCh37]
Chr6:6q14.1		 pathogenic
NM_001563.4(IMPG1):c.1882T>C (p.Phe628Leu) single nucleotide variant Retinal dystrophy [RCV004813666]|not provided [RCV001061209]|not specified [RCV004031947] Chr6:75947476 [GRCh38]
Chr6:76657193 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.631G>A (p.Asp211Asn) single nucleotide variant not provided [RCV001172171] Chr6:76022151 [GRCh38]
Chr6:76731868 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.754G>A (p.Ala252Thr) single nucleotide variant not provided [RCV001228904]|not specified [RCV004032654] Chr6:76018771 [GRCh38]
Chr6:76728488 [GRCh37]
Chr6:6q14.1		 likely benign|uncertain significance
NM_001563.4(IMPG1):c.289T>A (p.Tyr97Asn) single nucleotide variant not provided [RCV001064217] Chr6:76041905 [GRCh38]
Chr6:76751622 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.1235T>C (p.Leu412Pro) single nucleotide variant not provided [RCV001069793] Chr6:76002974 [GRCh38]
Chr6:76712691 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_005795.6(CALCRL):c.782-58T>C variation Benign concentric annular macular dystrophy [RCV001637978]   pathogenic
NM_001563.4(IMPG1):c.1286T>C (p.Leu429Pro) single nucleotide variant not provided [RCV001060208] Chr6:76002923 [GRCh38]
Chr6:76712640 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.208A>G (p.Arg70Gly) single nucleotide variant not provided [RCV001208309] Chr6:76041986 [GRCh38]
Chr6:76751703 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.1111G>A (p.Val371Met) single nucleotide variant not provided [RCV001236611] Chr6:76005311 [GRCh38]
Chr6:76715028 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.2165T>C (p.Leu722Pro) single nucleotide variant not provided [RCV001204785] Chr6:75931031 [GRCh38]
Chr6:76640748 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.802C>A (p.Leu268Ile) single nucleotide variant Retinal dystrophy [RCV004813943]|not provided [RCV001233406] Chr6:76018723 [GRCh38]
Chr6:76728440 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.184G>C (p.Asp62His) single nucleotide variant not provided [RCV001234788] Chr6:76042010 [GRCh38]
Chr6:76751727 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.2111G>A (p.Arg704Gln) single nucleotide variant Retinal dystrophy [RCV003890175]|not provided [RCV001041758] Chr6:75931085 [GRCh38]
Chr6:76640802 [GRCh37]
Chr6:6q14.1		 benign|uncertain significance
NM_001563.4(IMPG1):c.773A>G (p.Tyr258Cys) single nucleotide variant Retinal dystrophy [RCV003890188]|not provided [RCV001049971] Chr6:76018752 [GRCh38]
Chr6:76728469 [GRCh37]
Chr6:6q14.1		 benign|uncertain significance
NM_001563.4(IMPG1):c.896C>T (p.Ser299Phe) single nucleotide variant not provided [RCV001041894] Chr6:76005526 [GRCh38]
Chr6:76715243 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.2192G>A (p.Gly731Asp) single nucleotide variant not provided [RCV001217938]|not specified [RCV004034050] Chr6:75931004 [GRCh38]
Chr6:76640721 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.807+6T>A single nucleotide variant not provided [RCV001231292] Chr6:76018712 [GRCh38]
Chr6:76728429 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.1841G>A (p.Arg614Gln) single nucleotide variant not provided [RCV001230585]|not specified [RCV004927672] Chr6:75947517 [GRCh38]
Chr6:76657234 [GRCh37]
Chr6:6q14.1		 likely benign|uncertain significance
NM_001563.4(IMPG1):c.1100A>G (p.Gln367Arg) single nucleotide variant Retinal dystrophy [RCV003890349]|not provided [RCV001204725] Chr6:76005322 [GRCh38]
Chr6:76715039 [GRCh37]
Chr6:6q14.1		 benign|uncertain significance
NM_001563.4(IMPG1):c.2156A>G (p.Gln719Arg) single nucleotide variant not provided [RCV001063886] Chr6:75931040 [GRCh38]
Chr6:76640757 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.2170G>A (p.Gly724Ser) single nucleotide variant not provided [RCV001232331]|not specified [RCV004033162] Chr6:75931026 [GRCh38]
Chr6:76640743 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.548T>C (p.Ile183Thr) single nucleotide variant not provided [RCV001245779] Chr6:76025208 [GRCh38]
Chr6:76734925 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.1228C>A (p.Pro410Thr) single nucleotide variant not provided [RCV001230760]|not specified [RCV004033103] Chr6:76002981 [GRCh38]
Chr6:76712698 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.67G>A (p.Asp23Asn) single nucleotide variant not provided [RCV001216953] Chr6:76072422 [GRCh38]
Chr6:76782139 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.1931C>T (p.Ser644Leu) single nucleotide variant not provided [RCV001035633] Chr6:75947427 [GRCh38]
Chr6:76657144 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.115C>T (p.Pro39Ser) single nucleotide variant not provided [RCV001035636]|not specified [RCV004030958] Chr6:76042079 [GRCh38]
Chr6:76751796 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.807+1G>C single nucleotide variant Vitelliform macular dystrophy 2 [RCV001199481] Chr6:76018717 [GRCh38]
Chr6:76728434 [GRCh37]
Chr6:6q14.1		 pathogenic
NM_001563.4(IMPG1):c.188T>C (p.Leu63Ser) single nucleotide variant Retinal dystrophy [RCV001073957] Chr6:76042006 [GRCh38]
Chr6:76751723 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.1578C>G (p.Asp526Glu) single nucleotide variant not provided [RCV001205227]|not specified [RCV004033641] Chr6:75950808 [GRCh38]
Chr6:76660525 [GRCh37]
Chr6:6q14.1		 likely benign|uncertain significance
NM_001563.4(IMPG1):c.496A>C (p.Arg166=) single nucleotide variant Retinal dystrophy [RCV001075002]|not provided [RCV003708561] Chr6:76034316 [GRCh38]
Chr6:76744033 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.618C>T (p.Leu206=) single nucleotide variant Retinal dystrophy [RCV001075004] Chr6:76022164 [GRCh38]
Chr6:76731881 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.1633C>A (p.His545Asn) single nucleotide variant not provided [RCV001233762]|not specified [RCV004033210] Chr6:75950753 [GRCh38]
Chr6:76660470 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.1469G>A (p.Ser490Asn) single nucleotide variant not provided [RCV001211896] Chr6:75950917 [GRCh38]
Chr6:76660634 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.1016C>A (p.Thr339Asn) single nucleotide variant Retinal dystrophy [RCV001075265]|not provided [RCV001234321]|not specified [RCV004031189] Chr6:76005406 [GRCh38]
Chr6:76715123 [GRCh37]
Chr6:6q14.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_001563.4(IMPG1):c.1546G>A (p.Val516Ile) single nucleotide variant not provided [RCV001246096]|not specified [RCV004034852] Chr6:75950840 [GRCh38]
Chr6:76660557 [GRCh37]
Chr6:6q14.1		 uncertain significance
GRCh37/hg19 6q13-14.1(chr6:74226559-80208037)x1 copy number loss not provided [RCV001259387] Chr6:74226559..80208037 [GRCh37]
Chr6:6q13-14.1		 pathogenic
NM_001563.4(IMPG1):c.503A>G (p.Asp168Gly) single nucleotide variant not provided [RCV001348315] Chr6:76025253 [GRCh38]
Chr6:76734970 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.1836T>G (p.Tyr612Ter) single nucleotide variant not provided [RCV001374179] Chr6:75947522 [GRCh38]
Chr6:76657239 [GRCh37]
Chr6:6q14.1		 pathogenic|uncertain significance
NM_001563.4(IMPG1):c.222C>A (p.Phe74Leu) single nucleotide variant not provided [RCV001315834] Chr6:76041972 [GRCh38]
Chr6:76751689 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.1751T>C (p.Met584Thr) single nucleotide variant Vitelliform macular dystrophy 1 [RCV003483817]|Vitelliform macular dystrophy 4 [RCV001328855]|not provided [RCV001863193] Chr6:75950635 [GRCh38]
Chr6:76660352 [GRCh37]
Chr6:6q14.1		 uncertain significance|not provided
NM_001563.4(IMPG1):c.2183G>T (p.Gly728Val) single nucleotide variant not provided [RCV001301348] Chr6:75931013 [GRCh38]
Chr6:76640730 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.68-3C>A single nucleotide variant not provided [RCV001350571] Chr6:76042129 [GRCh38]
Chr6:76751846 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.1135G>A (p.Glu379Lys) single nucleotide variant not provided [RCV001320511] Chr6:76005287 [GRCh38]
Chr6:76715004 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.767C>G (p.Ser256Cys) single nucleotide variant Retinal dystrophy [RCV003888017]|not provided [RCV001315076] Chr6:76018758 [GRCh38]
Chr6:76728475 [GRCh37]
Chr6:6q14.1		 benign|uncertain significance
NM_001563.4(IMPG1):c.1989T>A (p.Ala663=) single nucleotide variant not provided [RCV001301052] Chr6:75947369 [GRCh38]
Chr6:76657086 [GRCh37]
Chr6:6q14.1		 likely benign|uncertain significance
NM_001563.4(IMPG1):c.277C>T (p.Leu93Phe) single nucleotide variant not provided [RCV001302159] Chr6:76041917 [GRCh38]
Chr6:76751634 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.1588C>A (p.Pro530Thr) single nucleotide variant not provided [RCV001341728] Chr6:75950798 [GRCh38]
Chr6:76660515 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.447G>C (p.Glu149Asp) single nucleotide variant not provided [RCV001318039] Chr6:76034642 [GRCh38]
Chr6:76744359 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.1434del (p.Leu479fs) deletion not provided [RCV001318073] Chr6:75950952 [GRCh38]
Chr6:76660669 [GRCh37]
Chr6:6q14.1		 pathogenic|uncertain significance
NM_001563.4(IMPG1):c.974T>C (p.Phe325Ser) single nucleotide variant not provided [RCV001339559] Chr6:76005448 [GRCh38]
Chr6:76715165 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.960T>G (p.Ser320Arg) single nucleotide variant not provided [RCV001325749] Chr6:76005462 [GRCh38]
Chr6:76715179 [GRCh37]
Chr6:6q14.1		 likely pathogenic|uncertain significance
NM_001563.4(IMPG1):c.3G>A (p.Met1Ile) single nucleotide variant not provided [RCV001352136] Chr6:76072486 [GRCh38]
Chr6:76782203 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.1897G>A (p.Val633Met) single nucleotide variant not provided [RCV001326706] Chr6:75947461 [GRCh38]
Chr6:76657178 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.2135G>A (p.Cys712Tyr) single nucleotide variant not provided [RCV001312472] Chr6:75931061 [GRCh38]
Chr6:76640778 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.2150A>C (p.Asp717Ala) single nucleotide variant not provided [RCV001303499] Chr6:75931046 [GRCh38]
Chr6:76640763 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.32T>C (p.Val11Ala) single nucleotide variant not provided [RCV001294907]|not specified [RCV004035625] Chr6:76072457 [GRCh38]
Chr6:76782174 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.498-2A>G single nucleotide variant not provided [RCV002044677] Chr6:76025260 [GRCh38]
Chr6:76734977 [GRCh37]
Chr6:6q14.1		 pathogenic|uncertain significance
NC_000006.11:g.(?_76728435)_(76728575_?)del deletion not provided [RCV001313752] Chr6:76728435..76728575 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.1678A>G (p.Thr560Ala) single nucleotide variant Retinal dystrophy [RCV004815323]|not provided [RCV001309609]|not specified [RCV004034212] Chr6:75950708 [GRCh38]
Chr6:76660425 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.1397A>G (p.Asp466Gly) single nucleotide variant not provided [RCV001297066] Chr6:75950989 [GRCh38]
Chr6:76660706 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.1267G>T (p.Asp423Tyr) single nucleotide variant not provided [RCV001308179] Chr6:76002942 [GRCh38]
Chr6:76712659 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.1092G>A (p.Glu364=) single nucleotide variant not provided [RCV001433077] Chr6:76005330 [GRCh38]
Chr6:76715047 [GRCh37]
Chr6:6q14.1		 likely benign
NM_001563.4(IMPG1):c.1348T>C (p.Phe450Leu) single nucleotide variant not provided [RCV001338273] Chr6:75951038 [GRCh38]
Chr6:76660755 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.1201G>C (p.Val401Leu) single nucleotide variant not provided [RCV001369146] Chr6:76003885 [GRCh38]
Chr6:76713602 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.607G>T (p.Asp203Tyr) single nucleotide variant not provided [RCV001372806] Chr6:76022175 [GRCh38]
Chr6:76731892 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.2132G>A (p.Arg711His) single nucleotide variant Retinal dystrophy [RCV003888128]|Vitelliform macular dystrophy 4 [RCV001421009]|not provided [RCV001515477] Chr6:75931064 [GRCh38]
Chr6:76640781 [GRCh37]
Chr6:6q14.1		 benign
NM_001563.4(IMPG1):c.395A>T (p.Gln132Leu) single nucleotide variant not provided [RCV001296154] Chr6:76034694 [GRCh38]
Chr6:76744411 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.1269C>A (p.Asp423Glu) single nucleotide variant not provided [RCV001296189] Chr6:76002940 [GRCh38]
Chr6:76712657 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.1212+2T>C single nucleotide variant not provided [RCV001316730] Chr6:76003872 [GRCh38]
Chr6:76713589 [GRCh37]
Chr6:6q14.1		 likely pathogenic|uncertain significance
NM_001563.4(IMPG1):c.1930T>G (p.Ser644Ala) single nucleotide variant not provided [RCV001313007]|not specified [RCV001699780] Chr6:75947428 [GRCh38]
Chr6:76657145 [GRCh37]
Chr6:6q14.1		 benign|uncertain significance
NM_001563.4(IMPG1):c.22G>C (p.Ala8Pro) single nucleotide variant not provided [RCV001359501] Chr6:76072467 [GRCh38]
Chr6:76782184 [GRCh37]
Chr6:6q14.1		 uncertain significance
NC_000006.11:g.(?_76717197)_(76720941_?)del deletion not provided [RCV001370516] Chr6:76717197..76720941 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.498-7C>T single nucleotide variant not provided [RCV001413811] Chr6:76025265 [GRCh38]
Chr6:76734982 [GRCh37]
Chr6:6q14.1		 likely benign
NM_001563.4(IMPG1):c.1038del (p.Glu347fs) deletion not provided [RCV001303484] Chr6:76005384 [GRCh38]
Chr6:76715101 [GRCh37]
Chr6:6q14.1		 pathogenic|uncertain significance
NM_001563.4(IMPG1):c.1959G>A (p.Val653=) single nucleotide variant not provided [RCV001415314] Chr6:75947399 [GRCh38]
Chr6:76657116 [GRCh37]
Chr6:6q14.1		 likely benign
NM_001563.4(IMPG1):c.1893G>C (p.Gly631=) single nucleotide variant not provided [RCV001397536] Chr6:75947465 [GRCh38]
Chr6:76657182 [GRCh37]
Chr6:6q14.1		 likely benign
NM_001563.4(IMPG1):c.391C>T (p.Gln131Ter) single nucleotide variant not provided [RCV001372957] Chr6:76034698 [GRCh38]
Chr6:76744415 [GRCh37]
Chr6:6q14.1		 pathogenic|uncertain significance
NM_001563.4(IMPG1):c.332G>A (p.Arg111Gln) single nucleotide variant Vitelliform macular dystrophy 4 [RCV001535679]|not provided [RCV001362754]|not specified [RCV004036847] Chr6:76034757 [GRCh38]
Chr6:76744474 [GRCh37]
Chr6:6q14.1		 uncertain significance|not provided
NM_001563.4(IMPG1):c.907C>T (p.Gln303Ter) single nucleotide variant not specified [RCV001449767] Chr6:76005515 [GRCh38]
Chr6:76715232 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.905T>C (p.Met302Thr) single nucleotide variant not provided [RCV001362186]|not specified [RCV004036829] Chr6:76005517 [GRCh38]
Chr6:76715234 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.890C>T (p.Ser297Leu) single nucleotide variant not provided [RCV001326242] Chr6:76005532 [GRCh38]
Chr6:76715249 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.672A>T (p.Arg224Ser) single nucleotide variant not provided [RCV001346438] Chr6:76018853 [GRCh38]
Chr6:76728570 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.227C>T (p.Thr76Met) single nucleotide variant not provided [RCV001364227] Chr6:76041967 [GRCh38]
Chr6:76751684 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.1096G>A (p.Glu366Lys) single nucleotide variant not provided [RCV001343665]|not specified [RCV004036399] Chr6:76005326 [GRCh38]
Chr6:76715043 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.2324G>A (p.Ser775Asn) single nucleotide variant not provided [RCV001303497]|not specified [RCV004036279] Chr6:75922159 [GRCh38]
Chr6:76631876 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.1186C>T (p.Pro396Ser) single nucleotide variant not provided [RCV001338607] Chr6:76003900 [GRCh38]
Chr6:76713617 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.1518C>G (p.Ser506Arg) single nucleotide variant not provided [RCV001360690] Chr6:75950868 [GRCh38]
Chr6:76660585 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.1982G>A (p.Arg661His) single nucleotide variant Retinal dystrophy [RCV003888066]|Vitelliform macular dystrophy 4 [RCV004813170]|not provided [RCV001365025] Chr6:75947376 [GRCh38]
Chr6:76657093 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.1736T>C (p.Leu579Pro) single nucleotide variant Benign concentric annular macular dystrophy [RCV001644981]|not provided [RCV001305530] Chr6:75950650 [GRCh38]
Chr6:76660367 [GRCh37]
Chr6:6q14.1		 pathogenic|likely pathogenic|uncertain significance
NM_001563.4(IMPG1):c.584G>A (p.Gly195Glu) single nucleotide variant not provided [RCV001338705] Chr6:76022198 [GRCh38]
Chr6:76731915 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.1213G>A (p.Asp405Asn) single nucleotide variant not provided [RCV001339895] Chr6:76002996 [GRCh38]
Chr6:76712713 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.1741G>A (p.Val581Ile) single nucleotide variant not provided [RCV001316656] Chr6:75950645 [GRCh38]
Chr6:76660362 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.913dup (p.Thr305fs) duplication not provided [RCV001303923] Chr6:76005508..76005509 [GRCh38]
Chr6:76715225..76715226 [GRCh37]
Chr6:6q14.1		 pathogenic|uncertain significance
NM_001563.4(IMPG1):c.1966G>T (p.Val656Phe) single nucleotide variant not provided [RCV001324225] Chr6:75947392 [GRCh38]
Chr6:76657109 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.1738C>T (p.Arg580Cys) single nucleotide variant Retinal dystrophy [RCV004815422]|not provided [RCV001346102] Chr6:75950648 [GRCh38]
Chr6:76660365 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.964C>T (p.Leu322Phe) single nucleotide variant not provided [RCV001347331] Chr6:76005458 [GRCh38]
Chr6:76715175 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.25A>G (p.Ile9Val) single nucleotide variant not provided [RCV001320767] Chr6:76072464 [GRCh38]
Chr6:76782181 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.869C>G (p.Pro290Arg) single nucleotide variant not provided [RCV001372562] Chr6:76007498 [GRCh38]
Chr6:76717215 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.649A>G (p.Thr217Ala) single nucleotide variant not provided [RCV001374364] Chr6:76022133 [GRCh38]
Chr6:76731850 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.667-3C>T single nucleotide variant not provided [RCV001350315] Chr6:76018861 [GRCh38]
Chr6:76728578 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.709G>A (p.Glu237Lys) single nucleotide variant not provided [RCV001324868] Chr6:76018816 [GRCh38]
Chr6:76728533 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.1085C>T (p.Ala362Val) single nucleotide variant not provided [RCV001345401]|not specified [RCV004927695] Chr6:76005337 [GRCh38]
Chr6:76715054 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.1838T>C (p.Leu613Pro) single nucleotide variant Benign concentric annular macular dystrophy [RCV001647269]|not provided [RCV001347968] Chr6:75947520 [GRCh38]
Chr6:76657237 [GRCh37]
Chr6:6q14.1		 pathogenic|uncertain significance
NM_001563.4(IMPG1):c.1876C>T (p.Leu626Phe) single nucleotide variant Benign concentric annular macular dystrophy [RCV002222204]|Retinitis pigmentosa [RCV003324563]|not provided [RCV001373204] Chr6:75947482 [GRCh38]
Chr6:76657199 [GRCh37]
Chr6:6q14.1		 likely pathogenic|uncertain significance
NM_001563.4(IMPG1):c.2338del (p.Glu780fs) deletion not provided [RCV001308284] Chr6:75922145 [GRCh38]
Chr6:76631862 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.162G>A (p.Met54Ile) single nucleotide variant not provided [RCV001321262] Chr6:76042032 [GRCh38]
Chr6:76751749 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.685G>A (p.Ala229Thr) single nucleotide variant not provided [RCV001364408]|not specified [RCV004036911] Chr6:76018840 [GRCh38]
Chr6:76728557 [GRCh37]
Chr6:6q14.1		 likely benign|uncertain significance
NM_001563.4(IMPG1):c.568G>A (p.Ala190Thr) single nucleotide variant not provided [RCV001298902] Chr6:76022214 [GRCh38]
Chr6:76731931 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.1718T>C (p.Leu573Pro) single nucleotide variant not provided [RCV001301152] Chr6:75950668 [GRCh38]
Chr6:76660385 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.176G>A (p.Arg59Gln) single nucleotide variant not provided [RCV001341789]|not specified [RCV004035973] Chr6:76042018 [GRCh38]
Chr6:76751735 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.995G>T (p.Ser332Ile) single nucleotide variant not provided [RCV001299380]|not specified [RCV004036133] Chr6:76005427 [GRCh38]
Chr6:76715144 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.106A>G (p.Ile36Val) single nucleotide variant not provided [RCV001370786] Chr6:76042088 [GRCh38]
Chr6:76751805 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.2123C>T (p.Ala708Val) single nucleotide variant not provided [RCV001297452] Chr6:75931073 [GRCh38]
Chr6:76640790 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.1135+1G>T single nucleotide variant not provided [RCV001299436] Chr6:76005286 [GRCh38]
Chr6:76715003 [GRCh37]
Chr6:6q14.1		 likely pathogenic|uncertain significance
NM_001563.4(IMPG1):c.1711C>T (p.Arg571Ter) single nucleotide variant not provided [RCV001350418] Chr6:75950675 [GRCh38]
Chr6:76660392 [GRCh37]
Chr6:6q14.1		 pathogenic|uncertain significance
NM_001563.4(IMPG1):c.448C>T (p.His150Tyr) single nucleotide variant not provided [RCV001309367] Chr6:76034641 [GRCh38]
Chr6:76744358 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.1101A>G (p.Gln367=) single nucleotide variant not provided [RCV001395544] Chr6:76005321 [GRCh38]
Chr6:76715038 [GRCh37]
Chr6:6q14.1		 likely benign
NM_001563.4(IMPG1):c.366A>C (p.Glu122Asp) single nucleotide variant not provided [RCV001367090]|not specified [RCV004036994] Chr6:76034723 [GRCh38]
Chr6:76744440 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.1795C>T (p.Arg599Ter) single nucleotide variant not specified [RCV001449766] Chr6:75950591 [GRCh38]
Chr6:76660308 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.2292G>T (p.Lys764Asn) single nucleotide variant not provided [RCV001367252] Chr6:75923658 [GRCh38]
Chr6:76633375 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.1224G>C (p.Leu408Phe) single nucleotide variant not provided [RCV001360694] Chr6:76002985 [GRCh38]
Chr6:76712702 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.1126T>G (p.Phe376Val) single nucleotide variant not provided [RCV001307179] Chr6:76005296 [GRCh38]
Chr6:76715013 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.1253del (p.Gln418fs) deletion not provided [RCV001361155] Chr6:76002956 [GRCh38]
Chr6:76712673 [GRCh37]
Chr6:6q14.1		 pathogenic|uncertain significance
NC_000006.11:g.(?_76744012)_(76751863_?)dup duplication not provided [RCV001304385] Chr6:76744012..76751863 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.1269C>T (p.Asp423=) single nucleotide variant not provided [RCV001499024] Chr6:76002940 [GRCh38]
Chr6:76712657 [GRCh37]
Chr6:6q14.1		 likely benign
NM_001563.4(IMPG1):c.1812A>G (p.Gln604=) single nucleotide variant not provided [RCV001398873] Chr6:75950574 [GRCh38]
Chr6:76660291 [GRCh37]
Chr6:6q14.1		 likely benign
NM_001563.4(IMPG1):c.2079C>T (p.Cys693=) single nucleotide variant not provided [RCV001470006] Chr6:75931117 [GRCh38]
Chr6:76640834 [GRCh37]
Chr6:6q14.1		 likely benign
NM_001563.4(IMPG1):c.1824+8G>A single nucleotide variant not provided [RCV001509838] Chr6:75950554 [GRCh38]
Chr6:76660271 [GRCh37]
Chr6:6q14.1		 benign
NM_001563.4(IMPG1):c.1515C>T (p.Asp505=) single nucleotide variant not provided [RCV001441272] Chr6:75950871 [GRCh38]
Chr6:76660588 [GRCh37]
Chr6:6q14.1		 likely benign
NM_001563.4(IMPG1):c.2325T>C (p.Ser775=) single nucleotide variant not provided [RCV001464760] Chr6:75922158 [GRCh38]
Chr6:76631875 [GRCh37]
Chr6:6q14.1		 likely benign
NM_001563.4(IMPG1):c.1706A>G (p.Lys569Arg) single nucleotide variant Retinal dystrophy [RCV003888264]|not provided [RCV001516105] Chr6:75950680 [GRCh38]
Chr6:76660397 [GRCh37]
Chr6:6q14.1		 benign
NM_001563.4(IMPG1):c.675A>G (p.Glu225=) single nucleotide variant not provided [RCV001499028] Chr6:76018850 [GRCh38]
Chr6:76728567 [GRCh37]
Chr6:6q14.1		 likely benign
NM_001563.4(IMPG1):c.2106C>T (p.Asn702=) single nucleotide variant not provided [RCV001451878] Chr6:75931090 [GRCh38]
Chr6:76640807 [GRCh37]
Chr6:6q14.1		 likely benign
NM_001563.4(IMPG1):c.667-9T>A single nucleotide variant not provided [RCV001483543] Chr6:76018867 [GRCh38]
Chr6:76728584 [GRCh37]
Chr6:6q14.1		 likely benign
NM_001563.4(IMPG1):c.562+10G>A single nucleotide variant not provided [RCV001486829] Chr6:76025184 [GRCh38]
Chr6:76734901 [GRCh37]
Chr6:6q14.1		 likely benign
NM_001563.4(IMPG1):c.1722A>G (p.Val574=) single nucleotide variant not provided [RCV001442324] Chr6:75950664 [GRCh38]
Chr6:76660381 [GRCh37]
Chr6:6q14.1		 likely benign
NM_001563.4(IMPG1):c.1062C>T (p.Asp354=) single nucleotide variant not provided [RCV001429003] Chr6:76005360 [GRCh38]
Chr6:76715077 [GRCh37]
Chr6:6q14.1		 likely benign
NM_001563.4(IMPG1):c.123A>G (p.Arg41=) single nucleotide variant not provided [RCV001481436] Chr6:76042071 [GRCh38]
Chr6:76751788 [GRCh37]
Chr6:6q14.1		 likely benign
NM_001563.4(IMPG1):c.1842A>C (p.Arg614=) single nucleotide variant not provided [RCV001484462] Chr6:75947516 [GRCh38]
Chr6:76657233 [GRCh37]
Chr6:6q14.1		 likely benign
NM_001563.4(IMPG1):c.777C>T (p.Tyr259=) single nucleotide variant IMPG1-related disorder [RCV003965948]|not provided [RCV001472571] Chr6:76018748 [GRCh38]
Chr6:76728465 [GRCh37]
Chr6:6q14.1		 likely benign
NM_001563.4(IMPG1):c.1611C>T (p.Ser537=) single nucleotide variant not provided [RCV001489915] Chr6:75950775 [GRCh38]
Chr6:76660492 [GRCh37]
Chr6:6q14.1		 likely benign
NM_001563.4(IMPG1):c.888-12T>G single nucleotide variant not provided [RCV001519171] Chr6:76005546 [GRCh38]
Chr6:76715263 [GRCh37]
Chr6:6q14.1		 benign
NM_001563.4(IMPG1):c.2243+20G>A single nucleotide variant not provided [RCV001446020] Chr6:75930933 [GRCh38]
Chr6:76640650 [GRCh37]
Chr6:6q14.1		 likely benign
NM_001563.4(IMPG1):c.1136-14dup duplication not provided [RCV001418571] Chr6:76003958..76003959 [GRCh38]
Chr6:76713675..76713676 [GRCh37]
Chr6:6q14.1		 likely benign
NM_001563.4(IMPG1):c.216A>G (p.Ala72=) single nucleotide variant not provided [RCV001448949] Chr6:76041978 [GRCh38]
Chr6:76751695 [GRCh37]
Chr6:6q14.1		 likely benign
NM_001563.4(IMPG1):c.1169A>G (p.Asp390Gly) single nucleotide variant IMPG1-related disorder [RCV003963272]|not provided [RCV001397971] Chr6:76003917 [GRCh38]
Chr6:76713634 [GRCh37]
Chr6:6q14.1		 likely benign
NM_001563.4(IMPG1):c.51A>G (p.Gln17=) single nucleotide variant not provided [RCV001417122] Chr6:76072438 [GRCh38]
Chr6:76782155 [GRCh37]
Chr6:6q14.1		 likely benign
NM_001563.4(IMPG1):c.15T>C (p.Thr5=) single nucleotide variant not provided [RCV001446615] Chr6:76072474 [GRCh38]
Chr6:76782191 [GRCh37]
Chr6:6q14.1		 likely benign
NM_001563.4(IMPG1):c.1932A>T (p.Ser644=) single nucleotide variant not provided [RCV001439111] Chr6:75947426 [GRCh38]
Chr6:76657143 [GRCh37]
Chr6:6q14.1		 likely benign
NM_001563.4(IMPG1):c.67+19T>C single nucleotide variant not provided [RCV001444302] Chr6:76072403 [GRCh38]
Chr6:76782120 [GRCh37]
Chr6:6q14.1		 likely benign
NM_001563.4(IMPG1):c.1136-8A>G single nucleotide variant not provided [RCV001441912] Chr6:76003958 [GRCh38]
Chr6:76713675 [GRCh37]
Chr6:6q14.1		 likely benign
NM_001563.4(IMPG1):c.1908T>C (p.Asn636=) single nucleotide variant not provided [RCV001415986] Chr6:75947450 [GRCh38]
Chr6:76657167 [GRCh37]
Chr6:6q14.1		 likely benign
NM_001563.4(IMPG1):c.2283T>C (p.Ser761=) single nucleotide variant not provided [RCV001417789] Chr6:75923667 [GRCh38]
Chr6:76633384 [GRCh37]
Chr6:6q14.1		 likely benign
NM_001563.4(IMPG1):c.302-14A>T single nucleotide variant not provided [RCV001431741] Chr6:76034801 [GRCh38]
Chr6:76744518 [GRCh37]
Chr6:6q14.1		 likely benign
NM_001563.4(IMPG1):c.915G>A (p.Thr305=) single nucleotide variant IMPG1-related disorder [RCV003965822]|not provided [RCV001432105] Chr6:76005507 [GRCh38]
Chr6:76715224 [GRCh37]
Chr6:6q14.1		 likely benign
NM_001563.4(IMPG1):c.1278G>A (p.Glu426=) single nucleotide variant not provided [RCV001445605] Chr6:76002931 [GRCh38]
Chr6:76712648 [GRCh37]
Chr6:6q14.1		 likely benign
NM_001563.4(IMPG1):c.563-4A>G single nucleotide variant not provided [RCV001435252] Chr6:76022223 [GRCh38]
Chr6:76731940 [GRCh37]
Chr6:6q14.1		 likely benign
NM_001563.4(IMPG1):c.927G>A (p.Lys309=) single nucleotide variant not provided [RCV001409321] Chr6:76005495 [GRCh38]
Chr6:76715212 [GRCh37]
Chr6:6q14.1		 likely benign
NM_001563.4(IMPG1):c.420T>C (p.Ile140=) single nucleotide variant not provided [RCV001505235] Chr6:76034669 [GRCh38]
Chr6:76744386 [GRCh37]
Chr6:6q14.1		 likely benign
NM_001563.4(IMPG1):c.888-7T>C single nucleotide variant not provided [RCV001450406] Chr6:76005541 [GRCh38]
Chr6:76715258 [GRCh37]
Chr6:6q14.1		 likely benign
NM_001563.4(IMPG1):c.718G>A (p.Val240Ile) single nucleotide variant Retinal dystrophy [RCV003888256]|not provided [RCV001515407] Chr6:76018807 [GRCh38]
Chr6:76728524 [GRCh37]
Chr6:6q14.1		 benign
NM_001563.4(IMPG1):c.645C>T (p.Asn215=) single nucleotide variant not provided [RCV001515098]|not specified [RCV001699564] Chr6:76022137 [GRCh38]
Chr6:76731854 [GRCh37]
Chr6:6q14.1		 benign|likely benign
NM_001563.4(IMPG1):c.1317G>A (p.Met439Ile) single nucleotide variant not provided [RCV001515497] Chr6:75951069 [GRCh38]
Chr6:76660786 [GRCh37]
Chr6:6q14.1		 benign
NM_001563.4(IMPG1):c.650C>T (p.Thr217Ile) single nucleotide variant IMPG1-related disorder [RCV003956171]|Retinal dystrophy [RCV003888263]|not provided [RCV001515982] Chr6:76022132 [GRCh38]
Chr6:76731849 [GRCh37]
Chr6:6q14.1		 benign
NM_001563.4(IMPG1):c.753C>T (p.Leu251=) single nucleotide variant not provided [RCV001451606]|not specified [RCV001701165] Chr6:76018772 [GRCh38]
Chr6:76728489 [GRCh37]
Chr6:6q14.1		 benign|likely benign
NM_001563.4(IMPG1):c.807+8G>C single nucleotide variant not provided [RCV001473955] Chr6:76018710 [GRCh38]
Chr6:76728427 [GRCh37]
Chr6:6q14.1		 likely benign
NM_001563.4(IMPG1):c.63C>A (p.Thr21=) single nucleotide variant not provided [RCV001458431] Chr6:76072426 [GRCh38]
Chr6:76782143 [GRCh37]
Chr6:6q14.1		 likely benign
NM_001563.4(IMPG1):c.1552C>G (p.His518Asp) single nucleotide variant Benign concentric annular macular dystrophy [RCV001730760]|Retinal dystrophy [RCV003888243]|Vitelliform macular dystrophy 4 [RCV001730761]|not provided [RCV001511799] Chr6:75950834 [GRCh38]
Chr6:76660551 [GRCh37]
Chr6:6q14.1		 benign
NM_001563.4(IMPG1):c.1388G>T (p.Gly463Val) single nucleotide variant not provided [RCV001512157] Chr6:75950998 [GRCh38]
Chr6:76660715 [GRCh37]
Chr6:6q14.1		 benign
NM_001563.4(IMPG1):c.1932A>G (p.Ser644=) single nucleotide variant not provided [RCV001504183] Chr6:75947426 [GRCh38]
Chr6:76657143 [GRCh37]
Chr6:6q14.1		 likely benign
NM_001563.4(IMPG1):c.2044+4A>G single nucleotide variant not provided [RCV001477745] Chr6:75947310 [GRCh38]
Chr6:76657027 [GRCh37]
Chr6:6q14.1		 likely benign
NM_001563.4(IMPG1):c.1191A>G (p.Thr397=) single nucleotide variant not provided [RCV001478173] Chr6:76003895 [GRCh38]
Chr6:76713612 [GRCh37]
Chr6:6q14.1		 likely benign
NM_001563.4(IMPG1):c.667-8A>T single nucleotide variant not provided [RCV001477860] Chr6:76018866 [GRCh38]
Chr6:76728583 [GRCh37]
Chr6:6q14.1		 likely benign
NM_001563.4(IMPG1):c.151dup (p.Met51fs) duplication not provided [RCV001682692] Chr6:76042042..76042043 [GRCh38]
Chr6:76751759..76751760 [GRCh37]
Chr6:6q14.1		 pathogenic|conflicting interpretations of pathogenicity
NM_001563.4(IMPG1):c.1271G>A (p.Gly424Glu) single nucleotide variant Retinal dystrophy [RCV003888279]|not provided [RCV001520492] Chr6:76002938 [GRCh38]
Chr6:76712655 [GRCh37]
Chr6:6q14.1		 benign
NM_001563.4(IMPG1):c.630C>T (p.Leu210=) single nucleotide variant not provided [RCV001467159] Chr6:76022152 [GRCh38]
Chr6:76731869 [GRCh37]
Chr6:6q14.1		 likely benign
NM_001563.4(IMPG1):c.2282G>A (p.Ser761Asn) single nucleotide variant Retinal dystrophy [RCV003888236]|not provided [RCV001509837] Chr6:75923668 [GRCh38]
Chr6:76633385 [GRCh37]
Chr6:6q14.1		 benign
NM_001563.4(IMPG1):c.1350C>T (p.Phe450=) single nucleotide variant not provided [RCV001486400] Chr6:75951036 [GRCh38]
Chr6:76660753 [GRCh37]
Chr6:6q14.1		 likely benign
NM_001563.4(IMPG1):c.2110C>T (p.Arg704Trp) single nucleotide variant Retinal dystrophy [RCV003888245]|not provided [RCV001512074] Chr6:75931086 [GRCh38]
Chr6:76640803 [GRCh37]
Chr6:6q14.1		 benign
NM_001563.4(IMPG1):c.2377G>A (p.Asp793Asn) single nucleotide variant Retinal dystrophy [RCV003888253]|not provided [RCV001514428] Chr6:75922106 [GRCh38]
Chr6:76631823 [GRCh37]
Chr6:6q14.1		 benign
NM_001563.4(IMPG1):c.498-8A>G single nucleotide variant not provided [RCV001462804] Chr6:76025266 [GRCh38]
Chr6:76734983 [GRCh37]
Chr6:6q14.1		 likely benign
NM_001563.4(IMPG1):c.213C>T (p.Ser71=) single nucleotide variant IMPG1-related disorder [RCV003965890]|not provided [RCV001452667] Chr6:76041981 [GRCh38]
Chr6:76751698 [GRCh37]
Chr6:6q14.1		 likely benign
NM_001563.4(IMPG1):c.2316+3dup duplication not provided [RCV001521077] Chr6:75923627..75923628 [GRCh38]
Chr6:76633344..76633345 [GRCh37]
Chr6:6q14.1		 benign
NM_001563.4(IMPG1):c.68-7T>C single nucleotide variant not provided [RCV001425603] Chr6:76042133 [GRCh38]
Chr6:76751850 [GRCh37]
Chr6:6q14.1		 likely benign
NM_001563.4(IMPG1):c.1938G>A (p.Pro646=) single nucleotide variant Retinal dystrophy [RCV003888170]|not provided [RCV001455978] Chr6:75947420 [GRCh38]
Chr6:76657137 [GRCh37]
Chr6:6q14.1		 benign|likely benign
NM_001563.4(IMPG1):c.2031C>G (p.Leu677=) single nucleotide variant not provided [RCV001427692] Chr6:75947327 [GRCh38]
Chr6:76657044 [GRCh37]
Chr6:6q14.1		 likely benign
NM_001563.4(IMPG1):c.2126A>G (p.Glu709Gly) single nucleotide variant IMPG1-related disorder [RCV003930939]|not provided [RCV001443520] Chr6:75931070 [GRCh38]
Chr6:76640787 [GRCh37]
Chr6:6q14.1		 likely benign
NM_001563.4(IMPG1):c.2044+16C>T single nucleotide variant not provided [RCV001500895] Chr6:75947298 [GRCh38]
Chr6:76657015 [GRCh37]
Chr6:6q14.1		 likely benign
NM_001563.4(IMPG1):c.572A>G (p.Asn191Ser) single nucleotide variant Retinal dystrophy [RCV003888095]|not provided [RCV001399467] Chr6:76022210 [GRCh38]
Chr6:76731927 [GRCh37]
Chr6:6q14.1		 benign|likely benign
GRCh37/hg19 6q13-14.1(chr6:70165296-79920769)x1 copy number loss not provided [RCV001834215] Chr6:70165296..79920769 [GRCh37]
Chr6:6q13-14.1		 pathogenic
NM_001563.4(IMPG1):c.1010A>T (p.His337Leu) single nucleotide variant not provided [RCV001751865] Chr6:76005412 [GRCh38]
Chr6:76715129 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.470G>T (p.Arg157Ile) single nucleotide variant Retinal dystrophy [RCV004818636] Chr6:76034342 [GRCh38]
Chr6:76744059 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.1874T>C (p.Ile625Thr) single nucleotide variant not provided [RCV001814662] Chr6:75947484 [GRCh38]
Chr6:76657201 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.667-84_706del deletion not provided [RCV001915201] Chr6:76018819..76018942 [GRCh38]
Chr6:76728536..76728659 [GRCh37]
Chr6:6q14.1		 likely pathogenic|uncertain significance
NM_001563.4(IMPG1):c.1000G>A (p.Glu334Lys) single nucleotide variant Retinal dystrophy [RCV003888973]|not provided [RCV001988623] Chr6:76005422 [GRCh38]
Chr6:76715139 [GRCh37]
Chr6:6q14.1		 benign|uncertain significance
NM_001563.4(IMPG1):c.1075A>G (p.Ile359Val) single nucleotide variant not provided [RCV001983390] Chr6:76005347 [GRCh38]
Chr6:76715064 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.1213-15A>G single nucleotide variant not provided [RCV001870740] Chr6:76003011 [GRCh38]
Chr6:76712728 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.705G>T (p.Arg235Ser) single nucleotide variant not provided [RCV002025821]|not specified [RCV004046099] Chr6:76018820 [GRCh38]
Chr6:76728537 [GRCh37]
Chr6:6q14.1		 uncertain significance
GRCh37/hg19 6q14.1(chr6:76680462-78260898) copy number gain not specified [RCV002053586] Chr6:76680462..78260898 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.1384C>T (p.Gln462Ter) single nucleotide variant not provided [RCV001894924] Chr6:75951002 [GRCh38]
Chr6:76660719 [GRCh37]
Chr6:6q14.1		 pathogenic|uncertain significance
NM_001563.4(IMPG1):c.198T>A (p.His66Gln) single nucleotide variant not provided [RCV001874002]|not specified [RCV004631760] Chr6:76041996 [GRCh38]
Chr6:76751713 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.52G>C (p.Val18Leu) single nucleotide variant not provided [RCV001949928] Chr6:76072437 [GRCh38]
Chr6:76782154 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.586C>T (p.Pro196Ser) single nucleotide variant Retinal dystrophy [RCV003888929]|not provided [RCV001949074] Chr6:76022196 [GRCh38]
Chr6:76731913 [GRCh37]
Chr6:6q14.1		 benign|uncertain significance
NM_001563.4(IMPG1):c.539G>C (p.Gly180Ala) single nucleotide variant not provided [RCV002025339] Chr6:76025217 [GRCh38]
Chr6:76734934 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.1363A>G (p.Ser455Gly) single nucleotide variant not provided [RCV001874612] Chr6:75951023 [GRCh38]
Chr6:76660740 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.1069A>G (p.Arg357Gly) single nucleotide variant not provided [RCV002045418] Chr6:76005353 [GRCh38]
Chr6:76715070 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.1907A>G (p.Asn636Ser) single nucleotide variant not provided [RCV002003214] Chr6:75947451 [GRCh38]
Chr6:76657168 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.1985C>T (p.Ser662Phe) single nucleotide variant not provided [RCV002025690] Chr6:75947373 [GRCh38]
Chr6:76657090 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.1393A>T (p.Thr465Ser) single nucleotide variant not provided [RCV001893749]|not specified [RCV004631805] Chr6:75950993 [GRCh38]
Chr6:76660710 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.1673A>G (p.Tyr558Cys) single nucleotide variant not provided [RCV002022396] Chr6:75950713 [GRCh38]
Chr6:76660430 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.1541A>T (p.Asp514Val) single nucleotide variant not provided [RCV001983253] Chr6:75950845 [GRCh38]
Chr6:76660562 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.2305C>T (p.Gln769Ter) single nucleotide variant not provided [RCV002005638] Chr6:75923645 [GRCh38]
Chr6:76633362 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.2045C>A (p.Ala682Asp) single nucleotide variant not provided [RCV001889402] Chr6:75931151 [GRCh38]
Chr6:76640868 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.493G>A (p.Asp165Asn) single nucleotide variant not provided [RCV001891801] Chr6:76034319 [GRCh38]
Chr6:76744036 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.1545G>A (p.Met515Ile) single nucleotide variant Retinal dystrophy [RCV003888932]|not provided [RCV001968032] Chr6:75950841 [GRCh38]
Chr6:76660558 [GRCh37]
Chr6:6q14.1		 benign|uncertain significance
NM_001563.4(IMPG1):c.679G>A (p.Glu227Lys) single nucleotide variant not provided [RCV002039499] Chr6:76018846 [GRCh38]
Chr6:76728563 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.347G>A (p.Arg116His) single nucleotide variant Retinal dystrophy [RCV003888934]|not provided [RCV001987520] Chr6:76034742 [GRCh38]
Chr6:76744459 [GRCh37]
Chr6:6q14.1		 benign|uncertain significance
NM_001563.4(IMPG1):c.1795C>G (p.Arg599Gly) single nucleotide variant not provided [RCV001966046] Chr6:75950591 [GRCh38]
Chr6:76660308 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.1796G>A (p.Arg599Gln) single nucleotide variant not provided [RCV001983151]|not specified [RCV004631868] Chr6:75950590 [GRCh38]
Chr6:76660307 [GRCh37]
Chr6:6q14.1		 likely benign|uncertain significance
NM_001563.4(IMPG1):c.228G>A (p.Thr76=) single nucleotide variant not provided [RCV001910520] Chr6:76041966 [GRCh38]
Chr6:76751683 [GRCh37]
Chr6:6q14.1		 likely benign|uncertain significance
NM_001563.4(IMPG1):c.666A>G (p.Thr222=) single nucleotide variant not provided [RCV001986316] Chr6:76022116 [GRCh38]
Chr6:76731833 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.1559A>G (p.Asp520Gly) single nucleotide variant not provided [RCV001987090] Chr6:75950827 [GRCh38]
Chr6:76660544 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.183C>A (p.Phe61Leu) single nucleotide variant not provided [RCV001927577] Chr6:76042011 [GRCh38]
Chr6:76751728 [GRCh37]
Chr6:6q14.1		 uncertain significance
GRCh37/hg19 6q12-16.1(chr6:69938252-94379210) copy number gain not specified [RCV002053581] Chr6:69938252..94379210 [GRCh37]
Chr6:6q12-16.1		 pathogenic
NM_001563.4(IMPG1):c.32T>G (p.Val11Gly) single nucleotide variant not provided [RCV001968651] Chr6:76072457 [GRCh38]
Chr6:76782174 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.2211C>T (p.Cys737=) single nucleotide variant not provided [RCV001892374] Chr6:75930985 [GRCh38]
Chr6:76640702 [GRCh37]
Chr6:6q14.1		 likely benign|uncertain significance
NM_001563.4(IMPG1):c.2383G>A (p.Glu795Lys) single nucleotide variant not provided [RCV002003150] Chr6:75922100 [GRCh38]
Chr6:76631817 [GRCh37]
Chr6:6q14.1		 uncertain significance
GRCh37/hg19 6q13-14.1(chr6:72799054-83275894)x1 copy number loss not provided [RCV001829197] Chr6:72799054..83275894 [GRCh37]
Chr6:6q13-14.1		 pathogenic
NM_001563.4(IMPG1):c.205A>G (p.Lys69Glu) single nucleotide variant IMPG1-related disorder [RCV004756302]|not provided [RCV001947351] Chr6:76041989 [GRCh38]
Chr6:76751706 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.154T>A (p.Tyr52Asn) single nucleotide variant not provided [RCV001983991] Chr6:76042040 [GRCh38]
Chr6:76751757 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.1862A>G (p.Lys621Arg) single nucleotide variant not provided [RCV002042314] Chr6:75947496 [GRCh38]
Chr6:76657213 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.643_645del (p.Asn215del) deletion not provided [RCV001889678] Chr6:76022137..76022139 [GRCh38]
Chr6:76731854..76731856 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.140G>C (p.Ser47Thr) single nucleotide variant not provided [RCV001986449] Chr6:76042054 [GRCh38]
Chr6:76751771 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.672del (p.Glu225fs) deletion not provided [RCV002039774] Chr6:76018853 [GRCh38]
Chr6:76728570 [GRCh37]
Chr6:6q14.1		 pathogenic|uncertain significance
NM_001563.4(IMPG1):c.301G>C (p.Val101Leu) single nucleotide variant not provided [RCV001938849] Chr6:76041893 [GRCh38]
Chr6:76751610 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.806A>G (p.Gln269Arg) single nucleotide variant not provided [RCV001944687] Chr6:76018719 [GRCh38]
Chr6:76728436 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.807+2T>A single nucleotide variant not provided [RCV002017682] Chr6:76018716 [GRCh38]
Chr6:76728433 [GRCh37]
Chr6:6q14.1		 pathogenic|uncertain significance
NM_001563.4(IMPG1):c.748G>A (p.Glu250Lys) single nucleotide variant not provided [RCV001898021] Chr6:76018777 [GRCh38]
Chr6:76728494 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.2005C>A (p.His669Asn) single nucleotide variant not provided [RCV001920680] Chr6:75947353 [GRCh38]
Chr6:76657070 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.280C>A (p.Gln94Lys) single nucleotide variant not provided [RCV001963431] Chr6:76041914 [GRCh38]
Chr6:76751631 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.1901T>G (p.Ile634Ser) single nucleotide variant not provided [RCV002030009] Chr6:75947457 [GRCh38]
Chr6:76657174 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.253T>C (p.Ser85Pro) single nucleotide variant not provided [RCV001888233] Chr6:76041941 [GRCh38]
Chr6:76751658 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.727G>C (p.Val243Leu) single nucleotide variant not provided [RCV002039141] Chr6:76018798 [GRCh38]
Chr6:76728515 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.450C>A (p.His150Gln) single nucleotide variant not provided [RCV001888815] Chr6:76034639 [GRCh38]
Chr6:76744356 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.1212+6T>C single nucleotide variant not provided [RCV001960271] Chr6:76003868 [GRCh38]
Chr6:76713585 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.1765G>A (p.Asp589Asn) single nucleotide variant not provided [RCV002012837] Chr6:75950621 [GRCh38]
Chr6:76660338 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.1135+2T>C single nucleotide variant not provided [RCV001976667] Chr6:76005285 [GRCh38]
Chr6:76715002 [GRCh37]
Chr6:6q14.1		 likely pathogenic|uncertain significance
NM_001563.4(IMPG1):c.2107G>A (p.Glu703Lys) single nucleotide variant not provided [RCV002015571] Chr6:75931089 [GRCh38]
Chr6:76640806 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.1328C>T (p.Ser443Phe) single nucleotide variant not provided [RCV001867268] Chr6:75951058 [GRCh38]
Chr6:76660775 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.321G>A (p.Trp107Ter) single nucleotide variant not provided [RCV001933645] Chr6:76034768 [GRCh38]
Chr6:76744485 [GRCh37]
Chr6:6q14.1		 pathogenic|uncertain significance
NM_001563.4(IMPG1):c.1861A>C (p.Lys621Gln) single nucleotide variant not provided [RCV001932467] Chr6:75947497 [GRCh38]
Chr6:76657214 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.1309C>T (p.Pro437Ser) single nucleotide variant not provided [RCV002030960] Chr6:75951077 [GRCh38]
Chr6:76660794 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.1841G>C (p.Arg614Pro) single nucleotide variant not provided [RCV002028306] Chr6:75947517 [GRCh38]
Chr6:76657234 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.1763A>G (p.Asn588Ser) single nucleotide variant not provided [RCV002027246] Chr6:75950623 [GRCh38]
Chr6:76660340 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.1778A>G (p.Lys593Arg) single nucleotide variant not provided [RCV001993906] Chr6:75950608 [GRCh38]
Chr6:76660325 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.1901T>C (p.Ile634Thr) single nucleotide variant not provided [RCV002028556]|not specified [RCV004045501] Chr6:75947457 [GRCh38]
Chr6:76657174 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.610A>G (p.Thr204Ala) single nucleotide variant not provided [RCV001971896] Chr6:76022172 [GRCh38]
Chr6:76731889 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.301+13A>G single nucleotide variant not provided [RCV002047466] Chr6:76041880 [GRCh38]
Chr6:76751597 [GRCh37]
Chr6:6q14.1		 likely benign|uncertain significance
NM_001563.4(IMPG1):c.1795_1796delinsTT (p.Arg599Leu) indel not provided [RCV001922072] Chr6:75950590..75950591 [GRCh38]
Chr6:76660307..76660308 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.2376A>G (p.Gln792=) single nucleotide variant not provided [RCV002016492] Chr6:75922107 [GRCh38]
Chr6:76631824 [GRCh37]
Chr6:6q14.1		 likely benign|uncertain significance
NM_001563.4(IMPG1):c.1063C>T (p.Leu355Phe) single nucleotide variant not provided [RCV001864989] Chr6:76005359 [GRCh38]
Chr6:76715076 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.1618G>A (p.Val540Ile) single nucleotide variant not provided [RCV001977651] Chr6:75950768 [GRCh38]
Chr6:76660485 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.1452T>G (p.Ser484Arg) single nucleotide variant not provided [RCV001957394] Chr6:75950934 [GRCh38]
Chr6:76660651 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.1872_1873del (p.Glu624fs) deletion not provided [RCV002049086] Chr6:75947485..75947486 [GRCh38]
Chr6:76657202..76657203 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.1634_1638dup (p.Leu547fs) duplication not provided [RCV002011361] Chr6:75950747..75950748 [GRCh38]
Chr6:76660464..76660465 [GRCh37]
Chr6:6q14.1		 pathogenic|uncertain significance
NM_001563.4(IMPG1):c.302-7_302del deletion not provided [RCV001930850] Chr6:76034787..76034794 [GRCh38]
Chr6:76744504..76744511 [GRCh37]
Chr6:6q14.1		 likely pathogenic|uncertain significance
NM_001563.4(IMPG1):c.308A>T (p.Gln103Leu) single nucleotide variant not provided [RCV002049150] Chr6:76034781 [GRCh38]
Chr6:76744498 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.291T>G (p.Tyr97Ter) single nucleotide variant not provided [RCV001882121] Chr6:76041903 [GRCh38]
Chr6:76751620 [GRCh37]
Chr6:6q14.1		 pathogenic|uncertain significance
NM_001563.4(IMPG1):c.1940A>G (p.Tyr647Cys) single nucleotide variant IMPG1-related disorder [RCV004731223]|not provided [RCV001992005] Chr6:75947418 [GRCh38]
Chr6:76657135 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.2165_2170del (p.Leu722_Gly724delinsArg) deletion not provided [RCV001885636] Chr6:75931026..75931031 [GRCh38]
Chr6:76640743..76640748 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.1448C>G (p.Thr483Ser) single nucleotide variant not provided [RCV002030717] Chr6:75950938 [GRCh38]
Chr6:76660655 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.335del (p.Ile112fs) deletion not provided [RCV001900413] Chr6:76034754 [GRCh38]
Chr6:76744471 [GRCh37]
Chr6:6q14.1		 pathogenic|uncertain significance
NM_001563.4(IMPG1):c.888-4_889dup duplication Retinal dystrophy [RCV003888360]|not provided [RCV001932381] Chr6:76005532..76005533 [GRCh38]
Chr6:76715249..76715250 [GRCh37]
Chr6:6q14.1		 benign|uncertain significance
NM_001563.4(IMPG1):c.468+4A>C single nucleotide variant not provided [RCV002014419] Chr6:76034617 [GRCh38]
Chr6:76744334 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.811C>A (p.Gln271Lys) single nucleotide variant not provided [RCV001906981] Chr6:76011221 [GRCh38]
Chr6:76720938 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.1079G>C (p.Ser360Thr) single nucleotide variant not provided [RCV001867623] Chr6:76005343 [GRCh38]
Chr6:76715060 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.2129G>A (p.Cys710Tyr) single nucleotide variant not provided [RCV002018412] Chr6:75931067 [GRCh38]
Chr6:76640784 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.722C>G (p.Ser241Cys) single nucleotide variant not provided [RCV001991498] Chr6:76018803 [GRCh38]
Chr6:76728520 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.809T>A (p.Met270Lys) single nucleotide variant not provided [RCV001936385] Chr6:76011223 [GRCh38]
Chr6:76720940 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.1513_1514insCAGATCAGATG (p.Asp505fs) insertion not provided [RCV002027585] Chr6:75950872..75950873 [GRCh38]
Chr6:76660589..76660590 [GRCh37]
Chr6:6q14.1		 pathogenic|uncertain significance
NM_001563.4(IMPG1):c.1596G>T (p.Glu532Asp) single nucleotide variant not provided [RCV002011053] Chr6:75950790 [GRCh38]
Chr6:76660507 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.797C>A (p.Ser266Tyr) single nucleotide variant not provided [RCV002046151] Chr6:76018728 [GRCh38]
Chr6:76728445 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.1837C>G (p.Leu613Val) single nucleotide variant not provided [RCV001915894] Chr6:75947521 [GRCh38]
Chr6:76657238 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.85T>C (p.Tyr29His) single nucleotide variant not provided [RCV001899852]|not specified [RCV004039781] Chr6:76042109 [GRCh38]
Chr6:76751826 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.383_385del (p.Ser128del) deletion not provided [RCV002015787] Chr6:76034704..76034706 [GRCh38]
Chr6:76744421..76744423 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.898A>T (p.Thr300Ser) single nucleotide variant not provided [RCV001952633] Chr6:76005524 [GRCh38]
Chr6:76715241 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.2045-3C>G single nucleotide variant not provided [RCV001989397] Chr6:75931154 [GRCh38]
Chr6:76640871 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.346C>T (p.Arg116Cys) single nucleotide variant not provided [RCV001952548]|not specified [RCV004041969] Chr6:76034743 [GRCh38]
Chr6:76744460 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.911T>G (p.Leu304Arg) single nucleotide variant not provided [RCV001884419] Chr6:76005511 [GRCh38]
Chr6:76715228 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.1976A>T (p.Asp659Val) single nucleotide variant not provided [RCV001897947] Chr6:75947382 [GRCh38]
Chr6:76657099 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.605A>G (p.Asp202Gly) single nucleotide variant not provided [RCV001904854] Chr6:76022177 [GRCh38]
Chr6:76731894 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.2080G>A (p.Gly694Ser) single nucleotide variant not provided [RCV002019740] Chr6:75931116 [GRCh38]
Chr6:76640833 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.2082C>T (p.Gly694=) single nucleotide variant not provided [RCV001898014] Chr6:75931114 [GRCh38]
Chr6:76640831 [GRCh37]
Chr6:6q14.1		 likely benign|uncertain significance
NM_001563.4(IMPG1):c.1220C>T (p.Thr407Ile) single nucleotide variant not provided [RCV001917669] Chr6:76002989 [GRCh38]
Chr6:76712706 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.2153G>C (p.Ser718Thr) single nucleotide variant not provided [RCV002027449]|not specified [RCV004046892] Chr6:75931043 [GRCh38]
Chr6:76640760 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.470G>C (p.Arg157Thr) single nucleotide variant not provided [RCV001867517] Chr6:76034342 [GRCh38]
Chr6:76744059 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.334A>T (p.Ile112Phe) single nucleotide variant not provided [RCV001918201] Chr6:76034755 [GRCh38]
Chr6:76744472 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.255C>G (p.Ser85=) single nucleotide variant not provided [RCV002210618] Chr6:76041939 [GRCh38]
Chr6:76751656 [GRCh37]
Chr6:6q14.1		 likely benign
NM_001563.4(IMPG1):c.469-4G>A single nucleotide variant not provided [RCV002186944] Chr6:76034347 [GRCh38]
Chr6:76744064 [GRCh37]
Chr6:6q14.1		 likely benign
NM_001563.4(IMPG1):c.33T>C (p.Val11=) single nucleotide variant not provided [RCV002091342] Chr6:76072456 [GRCh38]
Chr6:76782173 [GRCh37]
Chr6:6q14.1		 likely benign
NM_001563.4(IMPG1):c.808-16T>C single nucleotide variant not provided [RCV002071441] Chr6:76011240 [GRCh38]
Chr6:76720957 [GRCh37]
Chr6:6q14.1		 likely benign
NM_001563.4(IMPG1):c.1074G>T (p.Leu358=) single nucleotide variant not provided [RCV002186098] Chr6:76005348 [GRCh38]
Chr6:76715065 [GRCh37]
Chr6:6q14.1		 likely benign
NM_001563.4(IMPG1):c.1046A>G (p.Tyr349Cys) single nucleotide variant not provided [RCV002186085] Chr6:76005376 [GRCh38]
Chr6:76715093 [GRCh37]
Chr6:6q14.1		 likely benign
NM_001563.4(IMPG1):c.2199C>A (p.Gly733=) single nucleotide variant not provided [RCV002072705] Chr6:75930997 [GRCh38]
Chr6:76640714 [GRCh37]
Chr6:6q14.1		 likely benign
NM_001563.4(IMPG1):c.1542T>C (p.Asp514=) single nucleotide variant not provided [RCV002146298] Chr6:75950844 [GRCh38]
Chr6:76660561 [GRCh37]
Chr6:6q14.1		 likely benign
NM_001563.4(IMPG1):c.1170C>T (p.Asp390=) single nucleotide variant not provided [RCV002206860] Chr6:76003916 [GRCh38]
Chr6:76713633 [GRCh37]
Chr6:6q14.1		 likely benign
NM_001563.4(IMPG1):c.1110T>C (p.Asp370=) single nucleotide variant not provided [RCV002190450] Chr6:76005312 [GRCh38]
Chr6:76715029 [GRCh37]
Chr6:6q14.1		 likely benign
NM_001563.4(IMPG1):c.87C>T (p.Tyr29=) single nucleotide variant not provided [RCV002109051] Chr6:76042107 [GRCh38]
Chr6:76751824 [GRCh37]
Chr6:6q14.1		 likely benign
NM_001563.4(IMPG1):c.759C>T (p.Asp253=) single nucleotide variant not provided [RCV002092716] Chr6:76018766 [GRCh38]
Chr6:76728483 [GRCh37]
Chr6:6q14.1		 likely benign
NM_001563.4(IMPG1):c.301+14T>A single nucleotide variant not provided [RCV002151351] Chr6:76041879 [GRCh38]
Chr6:76751596 [GRCh37]
Chr6:6q14.1		 likely benign
NM_001563.4(IMPG1):c.2166G>C (p.Leu722=) single nucleotide variant not provided [RCV002153818] Chr6:75931030 [GRCh38]
Chr6:76640747 [GRCh37]
Chr6:6q14.1		 likely benign
NM_001563.4(IMPG1):c.1764C>T (p.Asn588=) single nucleotide variant not provided [RCV002090516] Chr6:75950622 [GRCh38]
Chr6:76660339 [GRCh37]
Chr6:6q14.1		 likely benign
NM_001563.4(IMPG1):c.468+19T>C single nucleotide variant not provided [RCV002216347] Chr6:76034602 [GRCh38]
Chr6:76744319 [GRCh37]
Chr6:6q14.1		 likely benign
NM_001563.4(IMPG1):c.441C>A (p.Ser147=) single nucleotide variant not provided [RCV002168478] Chr6:76034648 [GRCh38]
Chr6:76744365 [GRCh37]
Chr6:6q14.1		 likely benign
NM_001563.4(IMPG1):c.807+13G>A single nucleotide variant not provided [RCV002126179] Chr6:76018705 [GRCh38]
Chr6:76728422 [GRCh37]
Chr6:6q14.1		 likely benign
NM_001563.4(IMPG1):c.1890C>T (p.Asn630=) single nucleotide variant Retinal dystrophy [RCV003889042]|not provided [RCV002091368] Chr6:75947468 [GRCh38]
Chr6:76657185 [GRCh37]
Chr6:6q14.1		 benign|likely benign
NM_001563.4(IMPG1):c.792A>G (p.Gly264=) single nucleotide variant not provided [RCV002171816] Chr6:76018733 [GRCh38]
Chr6:76728450 [GRCh37]
Chr6:6q14.1		 likely benign
NM_001563.4(IMPG1):c.1518C>T (p.Ser506=) single nucleotide variant not provided [RCV002188625] Chr6:75950868 [GRCh38]
Chr6:76660585 [GRCh37]
Chr6:6q14.1		 likely benign
NM_001563.4(IMPG1):c.1995C>G (p.Ala665=) single nucleotide variant not provided [RCV002131033] Chr6:75947363 [GRCh38]
Chr6:76657080 [GRCh37]
Chr6:6q14.1		 likely benign
NM_001563.4(IMPG1):c.666+10T>A single nucleotide variant IMPG1-related disorder [RCV003958881]|not provided [RCV002131619] Chr6:76022106 [GRCh38]
Chr6:76731823 [GRCh37]
Chr6:6q14.1		 likely benign
NM_001563.4(IMPG1):c.468+8T>A single nucleotide variant not provided [RCV002212819] Chr6:76034613 [GRCh38]
Chr6:76744330 [GRCh37]
Chr6:6q14.1		 likely benign
NM_001563.4(IMPG1):c.302-16T>C single nucleotide variant not provided [RCV002096240] Chr6:76034803 [GRCh38]
Chr6:76744520 [GRCh37]
Chr6:6q14.1		 likely benign
NM_001563.4(IMPG1):c.1881C>T (p.Asn627=) single nucleotide variant not provided [RCV002151409] Chr6:75947477 [GRCh38]
Chr6:76657194 [GRCh37]
Chr6:6q14.1		 likely benign
NM_001563.4(IMPG1):c.633T>C (p.Asp211=) single nucleotide variant not provided [RCV002080580] Chr6:76022149 [GRCh38]
Chr6:76731866 [GRCh37]
Chr6:6q14.1		 likely benign
NM_001563.4(IMPG1):c.2244-12T>C single nucleotide variant not provided [RCV002114951] Chr6:75923718 [GRCh38]
Chr6:76633435 [GRCh37]
Chr6:6q14.1		 likely benign
NM_001563.4(IMPG1):c.498-11T>C single nucleotide variant not provided [RCV002197065] Chr6:76025269 [GRCh38]
Chr6:76734986 [GRCh37]
Chr6:6q14.1		 likely benign
NM_001563.4(IMPG1):c.1875A>T (p.Ile625=) single nucleotide variant not provided [RCV002138876] Chr6:75947483 [GRCh38]
Chr6:76657200 [GRCh37]
Chr6:6q14.1		 likely benign
NM_001563.4(IMPG1):c.808-14C>A single nucleotide variant not provided [RCV002140917] Chr6:76011238 [GRCh38]
Chr6:76720955 [GRCh37]
Chr6:6q14.1		 likely benign
NM_001563.4(IMPG1):c.231G>T (p.Gly77=) single nucleotide variant not provided [RCV002159756] Chr6:76041963 [GRCh38]
Chr6:76751680 [GRCh37]
Chr6:6q14.1		 likely benign
NM_001563.4(IMPG1):c.1434G>C (p.Gly478=) single nucleotide variant not provided [RCV002176319] Chr6:75950952 [GRCh38]
Chr6:76660669 [GRCh37]
Chr6:6q14.1		 likely benign
NM_001563.4(IMPG1):c.291T>C (p.Tyr97=) single nucleotide variant not provided [RCV002135403] Chr6:76041903 [GRCh38]
Chr6:76751620 [GRCh37]
Chr6:6q14.1		 likely benign
NM_001563.4(IMPG1):c.702G>A (p.Gln234=) single nucleotide variant not provided [RCV002177174] Chr6:76018823 [GRCh38]
Chr6:76728540 [GRCh37]
Chr6:6q14.1		 likely benign
NM_001563.4(IMPG1):c.498-20C>T single nucleotide variant not provided [RCV002144446] Chr6:76025278 [GRCh38]
Chr6:76734995 [GRCh37]
Chr6:6q14.1		 likely benign
NM_001563.4(IMPG1):c.1395A>C (p.Thr465=) single nucleotide variant not provided [RCV002218675] Chr6:75950991 [GRCh38]
Chr6:76660708 [GRCh37]
Chr6:6q14.1		 likely benign
NM_001563.4(IMPG1):c.68-12T>C single nucleotide variant not provided [RCV002163484] Chr6:76042138 [GRCh38]
Chr6:76751855 [GRCh37]
Chr6:6q14.1		 likely benign
NM_001563.4(IMPG1):c.302-13C>G single nucleotide variant not provided [RCV002136633] Chr6:76034800 [GRCh38]
Chr6:76744517 [GRCh37]
Chr6:6q14.1		 likely benign
NM_001563.4(IMPG1):c.1341T>G (p.Ala447=) single nucleotide variant not provided [RCV002176861] Chr6:75951045 [GRCh38]
Chr6:76660762 [GRCh37]
Chr6:6q14.1		 likely benign
NM_001563.4(IMPG1):c.1992A>C (p.Ala664=) single nucleotide variant not provided [RCV002099753] Chr6:75947366 [GRCh38]
Chr6:76657083 [GRCh37]
Chr6:6q14.1		 likely benign
NM_001563.4(IMPG1):c.866+14T>C single nucleotide variant not provided [RCV002143007] Chr6:76011152 [GRCh38]
Chr6:76720869 [GRCh37]
Chr6:6q14.1		 likely benign
NM_001563.4(IMPG1):c.684C>T (p.Phe228=) single nucleotide variant Retinal dystrophy [RCV003889033]|not provided [RCV002218702] Chr6:76018841 [GRCh38]
Chr6:76728558 [GRCh37]
Chr6:6q14.1		 benign|likely benign
NM_001563.4(IMPG1):c.717C>T (p.Ser239=) single nucleotide variant not provided [RCV002181108] Chr6:76018808 [GRCh38]
Chr6:76728525 [GRCh37]
Chr6:6q14.1		 likely benign
NM_001563.4(IMPG1):c.1824+13T>G single nucleotide variant not provided [RCV002181109] Chr6:75950549 [GRCh38]
Chr6:76660266 [GRCh37]
Chr6:6q14.1		 likely benign
NM_001563.4(IMPG1):c.1617T>C (p.Tyr539=) single nucleotide variant not provided [RCV002138311] Chr6:75950769 [GRCh38]
Chr6:76660486 [GRCh37]
Chr6:6q14.1		 likely benign
NM_001563.4(IMPG1):c.807+12C>T single nucleotide variant not provided [RCV002184070] Chr6:76018706 [GRCh38]
Chr6:76728423 [GRCh37]
Chr6:6q14.1		 likely benign
NM_001563.4(IMPG1):c.2045-5T>C single nucleotide variant not provided [RCV002102728] Chr6:75931156 [GRCh38]
Chr6:76640873 [GRCh37]
Chr6:6q14.1		 likely benign
NM_001563.4(IMPG1):c.2245T>C (p.Leu749=) single nucleotide variant not provided [RCV002204071] Chr6:75923705 [GRCh38]
Chr6:76633422 [GRCh37]
Chr6:6q14.1		 likely benign
NM_001563.4(IMPG1):c.2238A>C (p.Pro746=) single nucleotide variant not provided [RCV002138387] Chr6:75930958 [GRCh38]
Chr6:76640675 [GRCh37]
Chr6:6q14.1		 likely benign
NM_001563.4(IMPG1):c.24T>A (p.Ala8=) single nucleotide variant not provided [RCV002199024] Chr6:76072465 [GRCh38]
Chr6:76782182 [GRCh37]
Chr6:6q14.1		 likely benign
NM_001563.4(IMPG1):c.1786C>T (p.Leu596=) single nucleotide variant not provided [RCV002204831] Chr6:75950600 [GRCh38]
Chr6:76660317 [GRCh37]
Chr6:6q14.1		 likely benign
NM_001563.4(IMPG1):c.468+11A>G single nucleotide variant not provided [RCV002161043] Chr6:76034610 [GRCh38]
Chr6:76744327 [GRCh37]
Chr6:6q14.1		 likely benign
NM_001563.4(IMPG1):c.687T>A (p.Ala229=) single nucleotide variant not provided [RCV003115342] Chr6:76018838 [GRCh38]
Chr6:76728555 [GRCh37]
Chr6:6q14.1		 likely benign
NM_001563.4(IMPG1):c.534G>T (p.Glu178Asp) single nucleotide variant Retinal dystrophy [RCV003889281]|not provided [RCV003116948] Chr6:76025222 [GRCh38]
Chr6:76734939 [GRCh37]
Chr6:6q14.1		 likely benign|uncertain significance
NM_001563.4(IMPG1):c.468+6C>T single nucleotide variant not provided [RCV003114816] Chr6:76034615 [GRCh38]
Chr6:76744332 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.2074G>A (p.Ala692Thr) single nucleotide variant not provided [RCV003116191] Chr6:75931122 [GRCh38]
Chr6:76640839 [GRCh37]
Chr6:6q14.1		 uncertain significance
NC_000006.11:g.(?_76621369)_(76782205_?)del deletion not provided [RCV003116287] Chr6:76621369..76782205 [GRCh37]
Chr6:6q14.1		 pathogenic
NM_001563.4(IMPG1):c.2190T>G (p.Cys730Trp) single nucleotide variant not provided [RCV002281531] Chr6:75931006 [GRCh38]
Chr6:76640723 [GRCh37]
Chr6:6q14.1		 uncertain significance
GRCh37/hg19 6q12-14.1(chr6:64954687-79581678) copy number loss Chromosome 6q11-q14 deletion syndrome [RCV002280752] Chr6:64954687..79581678 [GRCh37]
Chr6:6q12-14.1		 pathogenic
NM_001563.4(IMPG1):c.1079G>A (p.Ser360Asn) single nucleotide variant Benign concentric annular macular dystrophy [RCV002290160] Chr6:76005343 [GRCh38]
Chr6:76715060 [GRCh37]
Chr6:6q14.1		 uncertain significance
GRCh37/hg19 6q14.1(chr6:76435646-76979568)x1 copy number loss not provided [RCV002473764] Chr6:76435646..76979568 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.2362G>T (p.Glu788Ter) single nucleotide variant Vitelliform macular dystrophy 4 [RCV002510238] Chr6:75922121 [GRCh38]
Chr6:76631838 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.1530del (p.Gly511fs) deletion Vitelliform macular dystrophy 4 [RCV002466292] Chr6:75950856 [GRCh38]
Chr6:76660573 [GRCh37]
Chr6:6q14.1		 likely pathogenic
NM_001563.4(IMPG1):c.82A>G (p.Ile28Val) single nucleotide variant not provided [RCV002303051] Chr6:76042112 [GRCh38]
Chr6:76751829 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.1192T>C (p.Ser398Pro) single nucleotide variant not provided [RCV002299448] Chr6:76003894 [GRCh38]
Chr6:76713611 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.2009T>G (p.Leu670Arg) single nucleotide variant not provided [RCV002303179] Chr6:75947349 [GRCh38]
Chr6:76657066 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.1064T>C (p.Leu355Pro) single nucleotide variant not specified [RCV004142123] Chr6:76005358 [GRCh38]
Chr6:76715075 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.1291+19A>G single nucleotide variant not provided [RCV002726408] Chr6:76002899 [GRCh38]
Chr6:76712616 [GRCh37]
Chr6:6q14.1		 likely benign
NM_001563.4(IMPG1):c.1701C>T (p.Ala567=) single nucleotide variant not provided [RCV002971977] Chr6:75950685 [GRCh38]
Chr6:76660402 [GRCh37]
Chr6:6q14.1		 likely benign
NM_001563.4(IMPG1):c.301+19C>G single nucleotide variant not provided [RCV002617246] Chr6:76041874 [GRCh38]
Chr6:76751591 [GRCh37]
Chr6:6q14.1		 likely benign
NM_001563.4(IMPG1):c.43T>C (p.Phe15Leu) single nucleotide variant not provided [RCV002862130] Chr6:76072446 [GRCh38]
Chr6:76782163 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.360_361del (p.Glu122fs) deletion not provided [RCV002681224] Chr6:76034728..76034729 [GRCh38]
Chr6:76744445..76744446 [GRCh37]
Chr6:6q14.1		 pathogenic|uncertain significance
NM_001563.4(IMPG1):c.2015T>G (p.Ile672Arg) single nucleotide variant not provided [RCV003016671] Chr6:75947343 [GRCh38]
Chr6:76657060 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.371A>G (p.Gln124Arg) single nucleotide variant not provided [RCV002819373] Chr6:76034718 [GRCh38]
Chr6:76744435 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.68-1G>C single nucleotide variant not provided [RCV002734903] Chr6:76042127 [GRCh38]
Chr6:76751844 [GRCh37]
Chr6:6q14.1		 likely pathogenic|uncertain significance
NM_001563.4(IMPG1):c.36T>C (p.Phe12=) single nucleotide variant not provided [RCV002617817] Chr6:76072453 [GRCh38]
Chr6:76782170 [GRCh37]
Chr6:6q14.1		 likely benign
NM_001563.4(IMPG1):c.290A>G (p.Tyr97Cys) single nucleotide variant not provided [RCV002843201] Chr6:76041904 [GRCh38]
Chr6:76751621 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.1190C>T (p.Thr397Ile) single nucleotide variant not provided [RCV003035232] Chr6:76003896 [GRCh38]
Chr6:76713613 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.723T>C (p.Ser241=) single nucleotide variant not provided [RCV002904424] Chr6:76018802 [GRCh38]
Chr6:76728519 [GRCh37]
Chr6:6q14.1		 likely benign
NM_001563.4(IMPG1):c.1443C>A (p.Ile481=) single nucleotide variant not provided [RCV003017032] Chr6:75950943 [GRCh38]
Chr6:76660660 [GRCh37]
Chr6:6q14.1		 likely benign
NM_001563.4(IMPG1):c.2212G>A (p.Glu738Lys) single nucleotide variant not provided [RCV002613490] Chr6:75930984 [GRCh38]
Chr6:76640701 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.272A>G (p.Asp91Gly) single nucleotide variant not provided [RCV002904929] Chr6:76041922 [GRCh38]
Chr6:76751639 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.808-31_808-19del deletion not provided [RCV002617808] Chr6:76011243..76011255 [GRCh38]
Chr6:76720960..76720972 [GRCh37]
Chr6:6q14.1		 likely benign|uncertain significance
NM_001563.4(IMPG1):c.866+8A>T single nucleotide variant not provided [RCV002967748] Chr6:76011158 [GRCh38]
Chr6:76720875 [GRCh37]
Chr6:6q14.1		 likely benign
NM_001563.4(IMPG1):c.1502C>T (p.Ala501Val) single nucleotide variant not provided [RCV002815491] Chr6:75950884 [GRCh38]
Chr6:76660601 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.2168A>G (p.Asp723Gly) single nucleotide variant not provided [RCV002750206] Chr6:75931028 [GRCh38]
Chr6:76640745 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.1522T>A (p.Ser508Thr) single nucleotide variant not provided [RCV002685752] Chr6:75950864 [GRCh38]
Chr6:76660581 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.1341T>C (p.Ala447=) single nucleotide variant not provided [RCV003015586] Chr6:75951045 [GRCh38]
Chr6:76660762 [GRCh37]
Chr6:6q14.1		 likely benign
NM_001563.4(IMPG1):c.562+7T>G single nucleotide variant not provided [RCV002903947] Chr6:76025187 [GRCh38]
Chr6:76734904 [GRCh37]
Chr6:6q14.1		 likely benign
NM_001563.4(IMPG1):c.175C>G (p.Arg59Gly) single nucleotide variant not provided [RCV002727126] Chr6:76042019 [GRCh38]
Chr6:76751736 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.746C>T (p.Ala249Val) single nucleotide variant not provided [RCV002842738] Chr6:76018779 [GRCh38]
Chr6:76728496 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.2162G>C (p.Ser721Thr) single nucleotide variant not provided [RCV002967500] Chr6:75931034 [GRCh38]
Chr6:76640751 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.468+7C>T single nucleotide variant not provided [RCV002843127] Chr6:76034614 [GRCh38]
Chr6:76744331 [GRCh37]
Chr6:6q14.1		 likely benign
NM_001563.4(IMPG1):c.1590A>G (p.Pro530=) single nucleotide variant not provided [RCV002695971] Chr6:75950796 [GRCh38]
Chr6:76660513 [GRCh37]
Chr6:6q14.1		 likely benign
NM_001563.4(IMPG1):c.1548C>A (p.Val516=) single nucleotide variant not provided [RCV002571938] Chr6:75950838 [GRCh38]
Chr6:76660555 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.1520G>A (p.Arg507Gln) single nucleotide variant Retinal dystrophy [RCV003889126]|not provided [RCV002592971]|not specified [RCV004064605] Chr6:75950866 [GRCh38]
Chr6:76660583 [GRCh37]
Chr6:6q14.1		 benign|uncertain significance
NM_001563.4(IMPG1):c.2243+6T>G single nucleotide variant not provided [RCV002871443] Chr6:75930947 [GRCh38]
Chr6:76640664 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.1543_1544dup (p.Met515fs) microsatellite not provided [RCV002760791] Chr6:75950841..75950842 [GRCh38]
Chr6:76660558..76660559 [GRCh37]
Chr6:6q14.1		 pathogenic|uncertain significance
NM_001563.4(IMPG1):c.667-39_713del deletion not provided [RCV002885463] Chr6:76018812..76018897 [GRCh38]
Chr6:76728529..76728614 [GRCh37]
Chr6:6q14.1		 likely pathogenic|uncertain significance
NM_001563.4(IMPG1):c.246A>G (p.Pro82=) single nucleotide variant not provided [RCV002847026] Chr6:76041948 [GRCh38]
Chr6:76751665 [GRCh37]
Chr6:6q14.1		 likely benign
NM_001563.4(IMPG1):c.666+20G>A single nucleotide variant not provided [RCV002694872] Chr6:76022096 [GRCh38]
Chr6:76731813 [GRCh37]
Chr6:6q14.1		 likely benign
NM_001563.4(IMPG1):c.1133A>G (p.Asp378Gly) single nucleotide variant not provided [RCV003035616] Chr6:76005289 [GRCh38]
Chr6:76715006 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.1840C>A (p.Arg614=) single nucleotide variant not provided [RCV002923022] Chr6:75947518 [GRCh38]
Chr6:76657235 [GRCh37]
Chr6:6q14.1		 likely benign|uncertain significance
NM_001563.4(IMPG1):c.262C>A (p.Gln88Lys) single nucleotide variant not provided [RCV003037873] Chr6:76041932 [GRCh38]
Chr6:76751649 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.1840C>T (p.Arg614Ter) single nucleotide variant not provided [RCV002590686] Chr6:75947518 [GRCh38]
Chr6:76657235 [GRCh37]
Chr6:6q14.1		 pathogenic|uncertain significance
NM_001563.4(IMPG1):c.1592C>A (p.Ser531Tyr) single nucleotide variant not specified [RCV004153916] Chr6:75950794 [GRCh38]
Chr6:76660511 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.1212+13T>G single nucleotide variant not provided [RCV003021232] Chr6:76003861 [GRCh38]
Chr6:76713578 [GRCh37]
Chr6:6q14.1		 likely benign
NM_001563.4(IMPG1):c.2099T>C (p.Val700Ala) single nucleotide variant not provided [RCV002846620] Chr6:75931097 [GRCh38]
Chr6:76640814 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.67+4A>G single nucleotide variant not provided [RCV002621910] Chr6:76072418 [GRCh38]
Chr6:76782135 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.1350_1353del (p.Phe450fs) microsatellite not provided [RCV002913467] Chr6:75951033..75951036 [GRCh38]
Chr6:76660750..76660753 [GRCh37]
Chr6:6q14.1		 pathogenic|uncertain significance
NM_001563.4(IMPG1):c.1212+19T>C single nucleotide variant not provided [RCV002979473] Chr6:76003855 [GRCh38]
Chr6:76713572 [GRCh37]
Chr6:6q14.1		 likely benign
NM_001563.4(IMPG1):c.1929G>A (p.Lys643=) single nucleotide variant not provided [RCV002823832] Chr6:75947429 [GRCh38]
Chr6:76657146 [GRCh37]
Chr6:6q14.1		 likely benign
NM_001563.4(IMPG1):c.807+8G>A single nucleotide variant not provided [RCV002909544] Chr6:76018710 [GRCh38]
Chr6:76728427 [GRCh37]
Chr6:6q14.1		 likely benign
NM_001563.4(IMPG1):c.607del (p.Asp203fs) deletion not provided [RCV003036358] Chr6:76022175 [GRCh38]
Chr6:76731892 [GRCh37]
Chr6:6q14.1		 pathogenic|uncertain significance
NM_001563.4(IMPG1):c.585G>A (p.Gly195=) single nucleotide variant not provided [RCV002952559] Chr6:76022197 [GRCh38]
Chr6:76731914 [GRCh37]
Chr6:6q14.1		 likely benign
NM_001563.4(IMPG1):c.14C>T (p.Thr5Ile) single nucleotide variant not provided [RCV002949604] Chr6:76072475 [GRCh38]
Chr6:76782192 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.127G>A (p.Glu43Lys) single nucleotide variant not provided [RCV002639478] Chr6:76042067 [GRCh38]
Chr6:76751784 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.615C>T (p.Leu205=) single nucleotide variant not provided [RCV003026216] Chr6:76022167 [GRCh38]
Chr6:76731884 [GRCh37]
Chr6:6q14.1		 likely benign
NM_001563.4(IMPG1):c.419T>C (p.Ile140Thr) single nucleotide variant not provided [RCV002597188]|not specified [RCV004927825] Chr6:76034670 [GRCh38]
Chr6:76744387 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.498-3T>C single nucleotide variant not specified [RCV004117773] Chr6:76025261 [GRCh38]
Chr6:76734978 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.2293T>G (p.Phe765Val) single nucleotide variant not provided [RCV002929078]|not specified [RCV004068061] Chr6:75923657 [GRCh38]
Chr6:76633374 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.1136-3T>C single nucleotide variant not provided [RCV003043216] Chr6:76003953 [GRCh38]
Chr6:76713670 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.351C>T (p.Ile117=) single nucleotide variant not provided [RCV002852097] Chr6:76034738 [GRCh38]
Chr6:76744455 [GRCh37]
Chr6:6q14.1		 likely benign
NM_001563.4(IMPG1):c.985A>G (p.Lys329Glu) single nucleotide variant not provided [RCV002894974] Chr6:76005437 [GRCh38]
Chr6:76715154 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.2184C>T (p.Gly728=) single nucleotide variant not provided [RCV002596510] Chr6:75931012 [GRCh38]
Chr6:76640729 [GRCh37]
Chr6:6q14.1		 likely benign
NM_001563.4(IMPG1):c.732C>A (p.Asn244Lys) single nucleotide variant not provided [RCV002957648] Chr6:76018793 [GRCh38]
Chr6:76728510 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.768C>T (p.Ser256=) single nucleotide variant not provided [RCV002663883] Chr6:76018757 [GRCh38]
Chr6:76728474 [GRCh37]
Chr6:6q14.1		 likely benign
NM_001563.4(IMPG1):c.454G>C (p.Asp152His) single nucleotide variant not provided [RCV003055914] Chr6:76034635 [GRCh38]
Chr6:76744352 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.1212+7T>C single nucleotide variant not provided [RCV002917554] Chr6:76003867 [GRCh38]
Chr6:76713584 [GRCh37]
Chr6:6q14.1		 likely benign
NM_001563.4(IMPG1):c.1724T>C (p.Val575Ala) single nucleotide variant not provided [RCV003005987] Chr6:75950662 [GRCh38]
Chr6:76660379 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.807+16C>T single nucleotide variant not provided [RCV002745276] Chr6:76018702 [GRCh38]
Chr6:76728419 [GRCh37]
Chr6:6q14.1		 likely benign
NM_001563.4(IMPG1):c.31G>A (p.Val11Ile) single nucleotide variant not provided [RCV003057453] Chr6:76072458 [GRCh38]
Chr6:76782175 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.1330C>G (p.Leu444Val) single nucleotide variant not provided [RCV003024036] Chr6:75951056 [GRCh38]
Chr6:76660773 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.2062T>C (p.Cys688Arg) single nucleotide variant not provided [RCV003057334] Chr6:75931134 [GRCh38]
Chr6:76640851 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.1725_1730del (p.Phe576_Phe577del) deletion not provided [RCV002829369] Chr6:75950656..75950661 [GRCh38]
Chr6:76660373..76660378 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.1825-18C>T single nucleotide variant not provided [RCV002576041] Chr6:75947551 [GRCh38]
Chr6:76657268 [GRCh37]
Chr6:6q14.1		 likely benign
NM_001563.4(IMPG1):c.409C>A (p.Leu137Ile) single nucleotide variant not provided [RCV002745490] Chr6:76034680 [GRCh38]
Chr6:76744397 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.331C>T (p.Arg111Trp) single nucleotide variant not provided [RCV002624447]|not specified [RCV004070771] Chr6:76034758 [GRCh38]
Chr6:76744475 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.2316G>A (p.Lys772=) single nucleotide variant not provided [RCV002712007] Chr6:75923634 [GRCh38]
Chr6:76633351 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.1671G>A (p.Gln557=) single nucleotide variant not provided [RCV002700089] Chr6:75950715 [GRCh38]
Chr6:76660432 [GRCh37]
Chr6:6q14.1		 likely benign
NM_001563.4(IMPG1):c.2185C>T (p.Leu729Phe) single nucleotide variant not provided [RCV002594269] Chr6:75931011 [GRCh38]
Chr6:76640728 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.1358C>T (p.Ala453Val) single nucleotide variant not provided [RCV002932373] Chr6:75951028 [GRCh38]
Chr6:76660745 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.98_102del (p.Thr33fs) deletion not provided [RCV003022648] Chr6:76042092..76042096 [GRCh38]
Chr6:76751809..76751813 [GRCh37]
Chr6:6q14.1		 pathogenic|uncertain significance
NM_001563.4(IMPG1):c.562+10G>C single nucleotide variant not provided [RCV002875878] Chr6:76025184 [GRCh38]
Chr6:76734901 [GRCh37]
Chr6:6q14.1		 likely benign
NM_001563.4(IMPG1):c.171G>A (p.Met57Ile) single nucleotide variant not provided [RCV003049049] Chr6:76042023 [GRCh38]
Chr6:76751740 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.603T>C (p.Pro201=) single nucleotide variant not provided [RCV002811466] Chr6:76022179 [GRCh38]
Chr6:76731896 [GRCh37]
Chr6:6q14.1		 likely benign
NM_001563.4(IMPG1):c.883G>A (p.Asp295Asn) single nucleotide variant not provided [RCV002900187]|not specified [RCV004927860] Chr6:76007484 [GRCh38]
Chr6:76717201 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.1567_1574delinsTTTTGTTGACATTTGTTGACATTTGTTGACATGAAATGTTTTGTTGTCAGGAGA (p.Asp523_Ser525delinsPheCysTer) indel not provided [RCV003044518] Chr6:75950812..75950819 [GRCh38]
Chr6:76660529..76660536 [GRCh37]
Chr6:6q14.1		 pathogenic|uncertain significance
NM_001563.4(IMPG1):c.289T>C (p.Tyr97His) single nucleotide variant not provided [RCV002720708] Chr6:76041905 [GRCh38]
Chr6:76751622 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.1136-8A>C single nucleotide variant not provided [RCV002922941] Chr6:76003958 [GRCh38]
Chr6:76713675 [GRCh37]
Chr6:6q14.1		 likely benign
NM_001563.4(IMPG1):c.184G>A (p.Asp62Asn) single nucleotide variant not provided [RCV002581458] Chr6:76042010 [GRCh38]
Chr6:76751727 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.215C>T (p.Ala72Val) single nucleotide variant not specified [RCV004121006] Chr6:76041979 [GRCh38]
Chr6:76751696 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.68A>T (p.Asp23Val) single nucleotide variant not provided [RCV003028656] Chr6:76042126 [GRCh38]
Chr6:76751843 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.498-15C>A single nucleotide variant not provided [RCV002671262] Chr6:76025273 [GRCh38]
Chr6:76734990 [GRCh37]
Chr6:6q14.1		 likely benign
NM_001563.4(IMPG1):c.421G>T (p.Gly141Ter) single nucleotide variant not provided [RCV002671492] Chr6:76034668 [GRCh38]
Chr6:76744385 [GRCh37]
Chr6:6q14.1		 pathogenic|uncertain significance
NM_001563.4(IMPG1):c.2213A>T (p.Glu738Val) single nucleotide variant not specified [RCV004143404] Chr6:75930983 [GRCh38]
Chr6:76640700 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.2317-8_2317-3del deletion not provided [RCV002578595] Chr6:75922169..75922174 [GRCh38]
Chr6:76631886..76631891 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.68-19A>G single nucleotide variant not provided [RCV002627540] Chr6:76042145 [GRCh38]
Chr6:76751862 [GRCh37]
Chr6:6q14.1		 likely benign
NM_001563.4(IMPG1):c.1388del (p.Gly463fs) deletion not provided [RCV003046765] Chr6:75950998 [GRCh38]
Chr6:76660715 [GRCh37]
Chr6:6q14.1		 pathogenic|uncertain significance
NM_001563.4(IMPG1):c.867-14A>G single nucleotide variant not provided [RCV002646033] Chr6:76007514 [GRCh38]
Chr6:76717231 [GRCh37]
Chr6:6q14.1		 likely benign
NM_001563.4(IMPG1):c.2317G>A (p.Val773Ile) single nucleotide variant not provided [RCV002810979] Chr6:75922166 [GRCh38]
Chr6:76631883 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.364G>A (p.Glu122Lys) single nucleotide variant not provided [RCV002601867] Chr6:76034725 [GRCh38]
Chr6:76744442 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.388T>C (p.Cys130Arg) single nucleotide variant not provided [RCV003698994]|not specified [RCV004146448] Chr6:76034701 [GRCh38]
Chr6:76744418 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.867-10T>C single nucleotide variant not provided [RCV002577811] Chr6:76007510 [GRCh38]
Chr6:76717227 [GRCh37]
Chr6:6q14.1		 likely benign
NM_001563.4(IMPG1):c.721T>C (p.Ser241Pro) single nucleotide variant not provided [RCV002811588] Chr6:76018804 [GRCh38]
Chr6:76728521 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.402C>T (p.Thr134=) single nucleotide variant not provided [RCV002630792] Chr6:76034687 [GRCh38]
Chr6:76744404 [GRCh37]
Chr6:6q14.1		 likely benign
NM_001563.4(IMPG1):c.1700C>T (p.Ala567Val) single nucleotide variant not provided [RCV002601197]|not specified [RCV004927828] Chr6:75950686 [GRCh38]
Chr6:76660403 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.1509A>G (p.Ser503=) single nucleotide variant not provided [RCV003045932] Chr6:75950877 [GRCh38]
Chr6:76660594 [GRCh37]
Chr6:6q14.1		 likely benign
NM_001563.4(IMPG1):c.1247A>G (p.Glu416Gly) single nucleotide variant not provided [RCV003046401] Chr6:76002962 [GRCh38]
Chr6:76712679 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.422G>C (p.Gly141Ala) single nucleotide variant not provided [RCV002578289] Chr6:76034667 [GRCh38]
Chr6:76744384 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.509T>C (p.Ile170Thr) single nucleotide variant not provided [RCV002806603] Chr6:76025247 [GRCh38]
Chr6:76734964 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.1824+16T>C single nucleotide variant not provided [RCV002937617] Chr6:75950546 [GRCh38]
Chr6:76660263 [GRCh37]
Chr6:6q14.1		 likely benign
NM_001563.4(IMPG1):c.1561G>T (p.Glu521Ter) single nucleotide variant not provided [RCV002649590] Chr6:75950825 [GRCh38]
Chr6:76660542 [GRCh37]
Chr6:6q14.1		 pathogenic|uncertain significance
NM_001563.4(IMPG1):c.2089G>C (p.Ala697Pro) single nucleotide variant not provided [RCV003046086] Chr6:75931107 [GRCh38]
Chr6:76640824 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.1791G>A (p.Glu597=) single nucleotide variant not provided [RCV002646896] Chr6:75950595 [GRCh38]
Chr6:76660312 [GRCh37]
Chr6:6q14.1		 likely benign
NM_001563.4(IMPG1):c.1843T>C (p.Ser615Pro) single nucleotide variant not provided [RCV002631962] Chr6:75947515 [GRCh38]
Chr6:76657232 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.1670A>G (p.Gln557Arg) single nucleotide variant not provided [RCV002715949] Chr6:75950716 [GRCh38]
Chr6:76660433 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.720C>G (p.Val240=) single nucleotide variant not provided [RCV002715961] Chr6:76018805 [GRCh38]
Chr6:76728522 [GRCh37]
Chr6:6q14.1		 likely benign
NM_001563.4(IMPG1):c.1578C>A (p.Asp526Glu) single nucleotide variant not provided [RCV002581183] Chr6:75950808 [GRCh38]
Chr6:76660525 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.301+12G>A single nucleotide variant not provided [RCV002676124] Chr6:76041881 [GRCh38]
Chr6:76751598 [GRCh37]
Chr6:6q14.1		 likely benign
NM_001563.4(IMPG1):c.640_643dup (p.Asn215fs) duplication not provided [RCV002715208] Chr6:76022138..76022139 [GRCh38]
Chr6:76731855..76731856 [GRCh37]
Chr6:6q14.1		 pathogenic|uncertain significance
NM_001563.4(IMPG1):c.52del (p.Val18fs) deletion not provided [RCV002834046] Chr6:76072437 [GRCh38]
Chr6:76782154 [GRCh37]
Chr6:6q14.1		 pathogenic|uncertain significance
NM_001563.4(IMPG1):c.846A>C (p.Lys282Asn) single nucleotide variant Retinal dystrophy [RCV004817208]|not provided [RCV003066848] Chr6:76011186 [GRCh38]
Chr6:76720903 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.1207A>G (p.Thr403Ala) single nucleotide variant not provided [RCV002814896] Chr6:76003879 [GRCh38]
Chr6:76713596 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.2027C>T (p.Ser676Phe) single nucleotide variant not provided [RCV002584304] Chr6:75947331 [GRCh38]
Chr6:76657048 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.2193C>T (p.Gly731=) single nucleotide variant not provided [RCV002814879] Chr6:75931003 [GRCh38]
Chr6:76640720 [GRCh37]
Chr6:6q14.1		 likely benign
NM_001563.4(IMPG1):c.2045-19T>C single nucleotide variant not provided [RCV002583090] Chr6:75931170 [GRCh38]
Chr6:76640887 [GRCh37]
Chr6:6q14.1		 likely benign
NM_001563.4(IMPG1):c.1537G>A (p.Glu513Lys) single nucleotide variant IMPG1-related disorder [RCV003403879]|not provided [RCV002635633] Chr6:75950849 [GRCh38]
Chr6:76660566 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.1612G>A (p.Glu538Lys) single nucleotide variant not provided [RCV002943849]|not specified [RCV004068117] Chr6:75950774 [GRCh38]
Chr6:76660491 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.1433G>A (p.Gly478Glu) single nucleotide variant not provided [RCV002657853] Chr6:75950953 [GRCh38]
Chr6:76660670 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.2210G>T (p.Cys737Phe) single nucleotide variant not provided [RCV002635149] Chr6:75930986 [GRCh38]
Chr6:76640703 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.418A>T (p.Ile140Phe) single nucleotide variant not provided [RCV002942398] Chr6:76034671 [GRCh38]
Chr6:76744388 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.497+8C>T single nucleotide variant not provided [RCV002609386] Chr6:76034307 [GRCh38]
Chr6:76744024 [GRCh37]
Chr6:6q14.1		 likely benign
NM_001563.4(IMPG1):c.2045-7del deletion not provided [RCV002721640] Chr6:75931158 [GRCh38]
Chr6:76640875 [GRCh37]
Chr6:6q14.1		 likely benign
NM_001563.4(IMPG1):c.316G>C (p.Val106Leu) single nucleotide variant not provided [RCV002609780] Chr6:76034773 [GRCh38]
Chr6:76744490 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.2317-14T>G single nucleotide variant not provided [RCV002585982] Chr6:75922180 [GRCh38]
Chr6:76631897 [GRCh37]
Chr6:6q14.1		 likely benign
NM_001563.4(IMPG1):c.866+16A>G single nucleotide variant not provided [RCV002725650] Chr6:76011150 [GRCh38]
Chr6:76720867 [GRCh37]
Chr6:6q14.1		 likely benign
NM_001563.4(IMPG1):c.573C>T (p.Asn191=) single nucleotide variant not provided [RCV003067969] Chr6:76022209 [GRCh38]
Chr6:76731926 [GRCh37]
Chr6:6q14.1		 likely benign
NM_001563.4(IMPG1):c.1112T>C (p.Val371Ala) single nucleotide variant not provided [RCV002604170] Chr6:76005310 [GRCh38]
Chr6:76715027 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.2131C>T (p.Arg711Cys) single nucleotide variant not specified [RCV004302052] Chr6:75931065 [GRCh38]
Chr6:76640782 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.1514A>T (p.Asp505Val) single nucleotide variant not specified [RCV004365122] Chr6:75950872 [GRCh38]
Chr6:76660589 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.536C>G (p.Pro179Arg) single nucleotide variant not provided [RCV003778020]|not specified [RCV004350737] Chr6:76025220 [GRCh38]
Chr6:76734937 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.1320C>G (p.Ala440=) single nucleotide variant not provided [RCV003872970] Chr6:75951066 [GRCh38]
Chr6:76660783 [GRCh37]
Chr6:6q14.1		 likely benign
NM_001563.4(IMPG1):c.2364A>T (p.Glu788Asp) single nucleotide variant not provided [RCV003571604] Chr6:75922119 [GRCh38]
Chr6:76631836 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.221T>C (p.Phe74Ser) single nucleotide variant not provided [RCV003694260] Chr6:76041973 [GRCh38]
Chr6:76751690 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.1811A>C (p.Gln604Pro) single nucleotide variant not provided [RCV003696061] Chr6:75950575 [GRCh38]
Chr6:76660292 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.202A>G (p.Thr68Ala) single nucleotide variant not provided [RCV003547251] Chr6:76041992 [GRCh38]
Chr6:76751709 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.2208A>C (p.Glu736Asp) single nucleotide variant not provided [RCV003577284] Chr6:75930988 [GRCh38]
Chr6:76640705 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.1824+10C>T single nucleotide variant not provided [RCV003577542] Chr6:75950552 [GRCh38]
Chr6:76660269 [GRCh37]
Chr6:6q14.1		 likely benign
NM_001563.4(IMPG1):c.995G>C (p.Ser332Thr) single nucleotide variant not provided [RCV003831334] Chr6:76005427 [GRCh38]
Chr6:76715144 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.2344C>T (p.Leu782=) single nucleotide variant not provided [RCV003692802] Chr6:75922139 [GRCh38]
Chr6:76631856 [GRCh37]
Chr6:6q14.1		 likely benign
NM_001563.4(IMPG1):c.146A>G (p.Glu49Gly) single nucleotide variant not provided [RCV003662442] Chr6:76042048 [GRCh38]
Chr6:76751765 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.388T>A (p.Cys130Ser) single nucleotide variant not provided [RCV003828746] Chr6:76034701 [GRCh38]
Chr6:76744418 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.122G>T (p.Arg41Ile) single nucleotide variant not provided [RCV003689190] Chr6:76042072 [GRCh38]
Chr6:76751789 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.807+20A>G single nucleotide variant not provided [RCV003824413] Chr6:76018698 [GRCh38]
Chr6:76728415 [GRCh37]
Chr6:6q14.1		 likely benign
NM_001563.4(IMPG1):c.216A>C (p.Ala72=) single nucleotide variant not provided [RCV003576709] Chr6:76041978 [GRCh38]
Chr6:76751695 [GRCh37]
Chr6:6q14.1		 likely benign
NM_001563.4(IMPG1):c.1819C>T (p.Gln607Ter) single nucleotide variant not provided [RCV003572714] Chr6:75950567 [GRCh38]
Chr6:76660284 [GRCh37]
Chr6:6q14.1		 pathogenic
NM_001563.4(IMPG1):c.212C>T (p.Ser71Phe) single nucleotide variant not provided [RCV003696027] Chr6:76041982 [GRCh38]
Chr6:76751699 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.601C>T (p.Pro201Ser) single nucleotide variant not provided [RCV003662019] Chr6:76022181 [GRCh38]
Chr6:76731898 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.1339G>A (p.Ala447Thr) single nucleotide variant not provided [RCV003574455] Chr6:75951047 [GRCh38]
Chr6:76660764 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.2083G>A (p.Glu695Lys) single nucleotide variant Retinal dystrophy [RCV003889329]|not provided [RCV003715537] Chr6:75931113 [GRCh38]
Chr6:76640830 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.1004T>C (p.Val335Ala) single nucleotide variant not provided [RCV003831922] Chr6:76005418 [GRCh38]
Chr6:76715135 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.144T>G (p.Thr48=) single nucleotide variant not provided [RCV003549137] Chr6:76042050 [GRCh38]
Chr6:76751767 [GRCh37]
Chr6:6q14.1		 likely benign
NM_001563.4(IMPG1):c.500A>C (p.Lys167Thr) single nucleotide variant not provided [RCV003810734] Chr6:76025256 [GRCh38]
Chr6:76734973 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.797C>T (p.Ser266Phe) single nucleotide variant not provided [RCV003697496] Chr6:76018728 [GRCh38]
Chr6:76728445 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.666+4A>T single nucleotide variant not provided [RCV003850997] Chr6:76022112 [GRCh38]
Chr6:76731829 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.2287_2302A[5]GTTCCAAAATCCCTCTCCCTCTCCCGCTCCCGGGGGGGGGGGGCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAAGTTCCAAAATC[1] (p.Gln768fs) insertion not provided [RCV003549991] Chr6:75923647..75923648 [GRCh38]
Chr6:76633364..76633365 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.2244-5T>C single nucleotide variant not provided [RCV003703669] Chr6:75923711 [GRCh38]
Chr6:76633428 [GRCh37]
Chr6:6q14.1		 likely benign
NM_001563.4(IMPG1):c.769C>T (p.Pro257Ser) single nucleotide variant not provided [RCV003659496] Chr6:76018756 [GRCh38]
Chr6:76728473 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.1394C>T (p.Thr465Ile) single nucleotide variant not provided [RCV003697522] Chr6:75950992 [GRCh38]
Chr6:76660709 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.2044+16C>A single nucleotide variant not provided [RCV003673438] Chr6:75947298 [GRCh38]
Chr6:76657015 [GRCh37]
Chr6:6q14.1		 likely benign
NM_001563.4(IMPG1):c.197A>G (p.His66Arg) single nucleotide variant not provided [RCV003856089] Chr6:76041997 [GRCh38]
Chr6:76751714 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.2045-14_2073del deletion not provided [RCV003839527] Chr6:75931123..75931165 [GRCh38]
Chr6:76640840..76640882 [GRCh37]
Chr6:6q14.1		 likely pathogenic
NM_001563.4(IMPG1):c.1135+18T>G single nucleotide variant not provided [RCV003702731] Chr6:76005269 [GRCh38]
Chr6:76714986 [GRCh37]
Chr6:6q14.1		 likely benign
NM_001563.4(IMPG1):c.1213G>C (p.Asp405His) single nucleotide variant not provided [RCV003856049] Chr6:76002996 [GRCh38]
Chr6:76712713 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.1152G>A (p.Leu384=) single nucleotide variant not provided [RCV003837531] Chr6:76003934 [GRCh38]
Chr6:76713651 [GRCh37]
Chr6:6q14.1		 likely benign
NM_001563.4(IMPG1):c.200G>A (p.Arg67Gln) single nucleotide variant not provided [RCV003832920] Chr6:76041994 [GRCh38]
Chr6:76751711 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.2189G>C (p.Cys730Ser) single nucleotide variant not provided [RCV003850780] Chr6:75931007 [GRCh38]
Chr6:76640724 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.573C>A (p.Asn191Lys) single nucleotide variant not provided [RCV003848423] Chr6:76022209 [GRCh38]
Chr6:76731926 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.991G>C (p.Glu331Gln) single nucleotide variant not provided [RCV003542050] Chr6:76005431 [GRCh38]
Chr6:76715148 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.1779G>C (p.Lys593Asn) single nucleotide variant not provided [RCV003705811] Chr6:75950607 [GRCh38]
Chr6:76660324 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.1907A>C (p.Asn636Thr) single nucleotide variant not provided [RCV003841550] Chr6:75947451 [GRCh38]
Chr6:76657168 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.434G>A (p.Ser145Asn) single nucleotide variant not provided [RCV003841662] Chr6:76034655 [GRCh38]
Chr6:76744372 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.717C>A (p.Ser239Arg) single nucleotide variant not provided [RCV003719159] Chr6:76018808 [GRCh38]
Chr6:76728525 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.2139A>G (p.Lys713=) single nucleotide variant not provided [RCV003719394] Chr6:75931057 [GRCh38]
Chr6:76640774 [GRCh37]
Chr6:6q14.1		 likely benign
NM_001563.4(IMPG1):c.1718T>A (p.Leu573Gln) single nucleotide variant not provided [RCV003685342] Chr6:75950668 [GRCh38]
Chr6:76660385 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.116C>T (p.Pro39Leu) single nucleotide variant not provided [RCV003677564] Chr6:76042078 [GRCh38]
Chr6:76751795 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.17_18insT (p.Arg6fs) insertion not provided [RCV003710561] Chr6:76072471..76072472 [GRCh38]
Chr6:76782188..76782189 [GRCh37]
Chr6:6q14.1		 pathogenic
NM_001563.4(IMPG1):c.2316+8C>A single nucleotide variant not provided [RCV003709054] Chr6:75923626 [GRCh38]
Chr6:76633343 [GRCh37]
Chr6:6q14.1		 likely benign
GRCh37/hg19 6q14.1(chr6:76644218-76704148)x1 copy number loss not specified [RCV003986665] Chr6:76644218..76704148 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.2107G>C (p.Glu703Gln) single nucleotide variant not provided [RCV003567714] Chr6:75931089 [GRCh38]
Chr6:76640806 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.1122T>G (p.Ile374Met) single nucleotide variant not provided [RCV003567662] Chr6:76005300 [GRCh38]
Chr6:76715017 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.151del (p.Met51fs) deletion not provided [RCV003683819] Chr6:76042043 [GRCh38]
Chr6:76751760 [GRCh37]
Chr6:6q14.1		 pathogenic
NM_001563.4(IMPG1):c.1704C>A (p.Pro568=) single nucleotide variant not provided [RCV003719004] Chr6:75950682 [GRCh38]
Chr6:76660399 [GRCh37]
Chr6:6q14.1		 likely benign
NM_001563.4(IMPG1):c.1385A>G (p.Gln462Arg) single nucleotide variant not provided [RCV003820645] Chr6:75951001 [GRCh38]
Chr6:76660718 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.1157C>T (p.Ala386Val) single nucleotide variant not provided [RCV003682297] Chr6:76003929 [GRCh38]
Chr6:76713646 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.1382A>G (p.Asp461Gly) single nucleotide variant not provided [RCV003684954] Chr6:75951004 [GRCh38]
Chr6:76660721 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.1428del (p.Pro477fs) deletion not provided [RCV003818471] Chr6:75950958 [GRCh38]
Chr6:76660675 [GRCh37]
Chr6:6q14.1		 pathogenic
NM_001563.4(IMPG1):c.497+9C>T single nucleotide variant not provided [RCV003728781] Chr6:76034306 [GRCh38]
Chr6:76744023 [GRCh37]
Chr6:6q14.1		 likely benign
NM_001563.4(IMPG1):c.1590del (p.Ser531fs) deletion not provided [RCV003541994] Chr6:75950796 [GRCh38]
Chr6:76660513 [GRCh37]
Chr6:6q14.1		 pathogenic
NM_001563.4(IMPG1):c.807+19T>C single nucleotide variant not provided [RCV003862591] Chr6:76018699 [GRCh38]
Chr6:76728416 [GRCh37]
Chr6:6q14.1		 likely benign
NM_001563.4(IMPG1):c.2044+11C>A single nucleotide variant not provided [RCV003675396] Chr6:75947303 [GRCh38]
Chr6:76657020 [GRCh37]
Chr6:6q14.1		 likely benign
NM_001563.4(IMPG1):c.2075C>T (p.Ala692Val) single nucleotide variant not provided [RCV003682087] Chr6:75931121 [GRCh38]
Chr6:76640838 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.700C>T (p.Gln234Ter) single nucleotide variant not provided [RCV003728215] Chr6:76018825 [GRCh38]
Chr6:76728542 [GRCh37]
Chr6:6q14.1		 pathogenic
NM_001563.4(IMPG1):c.2243+13T>C single nucleotide variant not provided [RCV003841831] Chr6:75930940 [GRCh38]
Chr6:76640657 [GRCh37]
Chr6:6q14.1		 likely benign
NM_001563.4(IMPG1):c.497+18del deletion not provided [RCV003566197] Chr6:76034297 [GRCh38]
Chr6:76744014 [GRCh37]
Chr6:6q14.1		 likely benign
NM_001563.4(IMPG1):c.444G>A (p.Gln148=) single nucleotide variant not provided [RCV003678229] Chr6:76034645 [GRCh38]
Chr6:76744362 [GRCh37]
Chr6:6q14.1		 likely benign
NM_001563.4(IMPG1):c.1712G>A (p.Arg571Gln) single nucleotide variant not provided [RCV003705812] Chr6:75950674 [GRCh38]
Chr6:76660391 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.849C>T (p.Ile283=) single nucleotide variant not provided [RCV003676593] Chr6:76011183 [GRCh38]
Chr6:76720900 [GRCh37]
Chr6:6q14.1		 likely benign
NM_001563.4(IMPG1):c.2163C>T (p.Ser721=) single nucleotide variant Retinal dystrophy [RCV003891101] Chr6:75931033 [GRCh38]
Chr6:76640750 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.1212+1G>T single nucleotide variant Retinal dystrophy [RCV003891111] Chr6:76003873 [GRCh38]
Chr6:76713590 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.1572G>A (p.Leu524=) single nucleotide variant IMPG1-related disorder [RCV003894257] Chr6:75950814 [GRCh38]
Chr6:76660531 [GRCh37]
Chr6:6q14.1		 likely benign
NM_001563.4(IMPG1):c.2022C>G (p.Ser674Arg) single nucleotide variant Retinal dystrophy [RCV003891102] Chr6:75947336 [GRCh38]
Chr6:76657053 [GRCh37]
Chr6:6q14.1		 benign
NM_001563.4(IMPG1):c.1002A>C (p.Glu334Asp) single nucleotide variant Retinal dystrophy [RCV003891112] Chr6:76005420 [GRCh38]
Chr6:76715137 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.956C>T (p.Ala319Val) single nucleotide variant Retinal dystrophy [RCV003891113] Chr6:76005466 [GRCh38]
Chr6:76715183 [GRCh37]
Chr6:6q14.1		 benign
NM_001563.4(IMPG1):c.1854A>C (p.Thr618=) single nucleotide variant Retinal dystrophy [RCV003891107] Chr6:75947504 [GRCh38]
Chr6:76657221 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.413T>G (p.Phe138Cys) single nucleotide variant Retinal dystrophy [RCV003891117] Chr6:76034676 [GRCh38]
Chr6:76744393 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.235A>C (p.Lys79Gln) single nucleotide variant Retinal dystrophy [RCV003891119] Chr6:76041959 [GRCh38]
Chr6:76751676 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.832C>T (p.Pro278Ser) single nucleotide variant Retinal dystrophy [RCV003891114] Chr6:76011200 [GRCh38]
Chr6:76720917 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.2169C>T (p.Asp723=) single nucleotide variant IMPG1-related disorder [RCV003979456]|not provided [RCV005103116]|not specified [RCV004369915] Chr6:75931027 [GRCh38]
Chr6:76640744 [GRCh37]
Chr6:6q14.1		 likely benign
NM_001563.4(IMPG1):c.1962C>T (p.His654=) single nucleotide variant IMPG1-related disorder [RCV003934043] Chr6:75947396 [GRCh38]
Chr6:76657113 [GRCh37]
Chr6:6q14.1		 likely benign
NM_001563.4(IMPG1):c.1606C>A (p.Leu536Ile) single nucleotide variant Retinal dystrophy [RCV003891109] Chr6:75950780 [GRCh38]
Chr6:76660497 [GRCh37]
Chr6:6q14.1		 likely benign
NM_001563.4(IMPG1):c.1855G>C (p.Gly619Arg) single nucleotide variant Retinal dystrophy [RCV003891106] Chr6:75947503 [GRCh38]
Chr6:76657220 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.455A>T (p.Asp152Val) single nucleotide variant Retinal dystrophy [RCV003891116] Chr6:76034634 [GRCh38]
Chr6:76744351 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.1863G>A (p.Lys621=) single nucleotide variant Retinal dystrophy [RCV003891105] Chr6:75947495 [GRCh38]
Chr6:76657212 [GRCh37]
Chr6:6q14.1		 benign
NM_001563.4(IMPG1):c.1868T>G (p.Leu623Arg) single nucleotide variant Retinal dystrophy [RCV003891103] Chr6:75947490 [GRCh38]
Chr6:76657207 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.1824+1G>T single nucleotide variant Retinal dystrophy [RCV003891108] Chr6:75950561 [GRCh38]
Chr6:76660278 [GRCh37]
Chr6:6q14.1		 likely pathogenic
NM_001563.4(IMPG1):c.1461T>C (p.Ser487=) single nucleotide variant Retinal dystrophy [RCV003891110] Chr6:75950925 [GRCh38]
Chr6:76660642 [GRCh37]
Chr6:6q14.1		 benign
NM_001563.4(IMPG1):c.307C>T (p.Gln103Ter) single nucleotide variant Retinal dystrophy [RCV003891118] Chr6:76034782 [GRCh38]
Chr6:76744499 [GRCh37]
Chr6:6q14.1		 likely pathogenic
NM_001563.4(IMPG1):c.497G>A (p.Arg166Lys) single nucleotide variant Retinal dystrophy [RCV003891115] Chr6:76034315 [GRCh38]
Chr6:76744032 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.232G>T (p.Val78Phe) single nucleotide variant Retinal dystrophy [RCV003891120] Chr6:76041962 [GRCh38]
Chr6:76751679 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.1057A>G (p.Thr353Ala) single nucleotide variant not specified [RCV004397918] Chr6:76005365 [GRCh38]
Chr6:76715082 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.1198G>C (p.Ala400Pro) single nucleotide variant not specified [RCV004397919] Chr6:76003888 [GRCh38]
Chr6:76713605 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.765G>T (p.Gln255His) single nucleotide variant not provided [RCV005104479]|not specified [RCV004397922] Chr6:76018760 [GRCh38]
Chr6:76728477 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.935G>A (p.Ser312Asn) single nucleotide variant not specified [RCV004397924] Chr6:76005487 [GRCh38]
Chr6:76715204 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.1027G>C (p.Asp343His) single nucleotide variant not specified [RCV004397917] Chr6:76005395 [GRCh38]
Chr6:76715112 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.2229G>T (p.Lys743Asn) single nucleotide variant not specified [RCV004397921] Chr6:75930967 [GRCh38]
Chr6:76640684 [GRCh37]
Chr6:6q14.1		 uncertain significance
NC_000006.11:g.(?_76631806)_(76782205_?)dup duplication not provided [RCV004578803] Chr6:76631806..76782205 [GRCh37]
Chr6:6q14.1		 uncertain significance
NC_000006.11:g.(?_76527265)_(76640888_?)dup duplication not provided [RCV004578804] Chr6:76527265..76640888 [GRCh37]
Chr6:6q14.1		 uncertain significance
NC_000006.11:g.(?_76631806)_(76633443_?)dup duplication not provided [RCV004578805] Chr6:76631806..76633443 [GRCh37]
Chr6:6q14.1		 uncertain significance
NC_000006.11:g.(?_76744032)_(76751843_?)dup duplication not provided [RCV004578806] Chr6:76744032..76751843 [GRCh37]
Chr6:6q14.1		 uncertain significance
NC_000006.11:g.(?_76554594)_(76782205_?)del deletion not provided [RCV004578831] Chr6:76554594..76782205 [GRCh37]
Chr6:6q14.1		 pathogenic
NM_001563.4(IMPG1):c.1580C>G (p.Thr527Ser) single nucleotide variant not specified [RCV004630633] Chr6:75950806 [GRCh38]
Chr6:76660523 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.716G>T (p.Ser239Ile) single nucleotide variant not specified [RCV004630634] Chr6:76018809 [GRCh38]
Chr6:76728526 [GRCh37]
Chr6:6q14.1		 uncertain significance
NC_000006.11:g.(?_75827078)_(76640888_?)dup duplication Ullrich congenital muscular dystrophy 2 [RCV004578687] Chr6:75827078..76640888 [GRCh37]
Chr6:6q13-14.1		 uncertain significance
NC_000006.11:g.(?_76527265)_(76782205_?)dup duplication not provided [RCV004578834] Chr6:76527265..76782205 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.710_727del (p.Glu237_Leu242del) deletion Vitelliform macular dystrophy 4 [RCV004701896] Chr6:76018798..76018815 [GRCh38]
Chr6:76728515..76728532 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.561A>G (p.Thr187=) single nucleotide variant Retinal dystrophy [RCV004817477] Chr6:76025195 [GRCh38]
Chr6:76734912 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.553A>G (p.Ile185Val) single nucleotide variant IMPG1-related disorder [RCV004756589] Chr6:76025203 [GRCh38]
Chr6:76734920 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.791G>C (p.Gly264Ala) single nucleotide variant IMPG1-related disorder [RCV004731757]|not provided [RCV005103619] Chr6:76018734 [GRCh38]
Chr6:76728451 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.2160dup (p.Ser721fs) duplication not provided [RCV004772619] Chr6:75931035..75931036 [GRCh38]
Chr6:76640752..76640753 [GRCh37]
Chr6:6q14.1		 uncertain significance
GRCh37/hg19 6q12-14.1(chr6:66523005-81798980)x1 copy number loss not provided [RCV004819347] Chr6:66523005..81798980 [GRCh37]
Chr6:6q12-14.1		 pathogenic
NM_001563.4(IMPG1):c.102A>C (p.Lys34Asn) single nucleotide variant not specified [RCV004929396] Chr6:76042092 [GRCh38]
Chr6:76751809 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.1754C>G (p.Ala585Gly) single nucleotide variant not specified [RCV004929397] Chr6:75950632 [GRCh38]
Chr6:76660349 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.31G>T (p.Val11Phe) single nucleotide variant not specified [RCV004929398] Chr6:76072458 [GRCh38]
Chr6:76782175 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.2272T>C (p.Tyr758His) single nucleotide variant not provided [RCV005170800] Chr6:75923678 [GRCh38]
Chr6:76633395 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.1010A>C (p.His337Pro) single nucleotide variant not provided [RCV005147790] Chr6:76005412 [GRCh38]
Chr6:76715129 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.888-4A>G single nucleotide variant not provided [RCV005146998] Chr6:76005538 [GRCh38]
Chr6:76715255 [GRCh37]
Chr6:6q14.1		 likely benign
NM_001563.4(IMPG1):c.562+19T>G single nucleotide variant not provided [RCV005065413] Chr6:76025175 [GRCh38]
Chr6:76734892 [GRCh37]
Chr6:6q14.1		 likely benign
NM_001563.4(IMPG1):c.829C>T (p.Leu277Phe) single nucleotide variant not provided [RCV005066448] Chr6:76011203 [GRCh38]
Chr6:76720920 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.1909A>G (p.Ser637Gly) single nucleotide variant not provided [RCV005173915] Chr6:75947449 [GRCh38]
Chr6:76657166 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.66A>G (p.Lys22=) single nucleotide variant not provided [RCV005084835] Chr6:76072423 [GRCh38]
Chr6:76782140 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.1944C>A (p.Asn648Lys) single nucleotide variant not provided [RCV005148846] Chr6:75947414 [GRCh38]
Chr6:76657131 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.1957G>C (p.Val653Leu) single nucleotide variant not provided [RCV005069444] Chr6:75947401 [GRCh38]
Chr6:76657118 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.2009T>C (p.Leu670Pro) single nucleotide variant not provided [RCV005161561] Chr6:75947349 [GRCh38]
Chr6:76657066 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.118C>T (p.Pro40Ser) single nucleotide variant not provided [RCV005134774] Chr6:76042076 [GRCh38]
Chr6:76751793 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.238G>T (p.Val80Phe) single nucleotide variant not provided [RCV005149147] Chr6:76041956 [GRCh38]
Chr6:76751673 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.1679C>T (p.Thr560Ile) single nucleotide variant not provided [RCV005153562] Chr6:75950707 [GRCh38]
Chr6:76660424 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.666del (p.Glu223fs) deletion not provided [RCV005123883] Chr6:76022116 [GRCh38]
Chr6:76731833 [GRCh37]
Chr6:6q14.1		 pathogenic
NM_001563.4(IMPG1):c.712C>T (p.Leu238Phe) single nucleotide variant not provided [RCV005176884] Chr6:76018813 [GRCh38]
Chr6:76728530 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.1719G>T (p.Leu573=) single nucleotide variant not provided [RCV005143291] Chr6:75950667 [GRCh38]
Chr6:76660384 [GRCh37]
Chr6:6q14.1		 likely benign
NM_001563.4(IMPG1):c.1744G>C (p.Ala582Pro) single nucleotide variant not provided [RCV005141283] Chr6:75950642 [GRCh38]
Chr6:76660359 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.1499del (p.Pro500fs) deletion not provided [RCV005118452] Chr6:75950887 [GRCh38]
Chr6:76660604 [GRCh37]
Chr6:6q14.1		 pathogenic
NM_001563.4(IMPG1):c.1194T>G (p.Ser398=) single nucleotide variant not provided [RCV005163659] Chr6:76003892 [GRCh38]
Chr6:76713609 [GRCh37]
Chr6:6q14.1		 likely benign
NM_001563.4(IMPG1):c.222C>T (p.Phe74=) single nucleotide variant not provided [RCV005168277] Chr6:76041972 [GRCh38]
Chr6:76751689 [GRCh37]
Chr6:6q14.1		 likely benign
NM_001563.4(IMPG1):c.166A>C (p.Thr56Pro) single nucleotide variant not provided [RCV005161646] Chr6:76042028 [GRCh38]
Chr6:76751745 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.2072T>C (p.Leu691Pro) single nucleotide variant not provided [RCV005142509] Chr6:75931124 [GRCh38]
Chr6:76640841 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.803T>C (p.Leu268Pro) single nucleotide variant not provided [RCV005185499] Chr6:76018722 [GRCh38]
Chr6:76728439 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.1276G>T (p.Glu426Ter) single nucleotide variant not provided [RCV005162715] Chr6:76002933 [GRCh38]
Chr6:76712650 [GRCh37]
Chr6:6q14.1		 pathogenic
NM_001563.4(IMPG1):c.1069del (p.Arg357fs) deletion not provided [RCV005148310] Chr6:76005353 [GRCh38]
Chr6:76715070 [GRCh37]
Chr6:6q14.1		 pathogenic
NM_001563.4(IMPG1):c.1849C>T (p.Leu617Phe) single nucleotide variant not provided [RCV005079029] Chr6:75947509 [GRCh38]
Chr6:76657226 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.2243+8A>G single nucleotide variant not provided [RCV005193912] Chr6:75930945 [GRCh38]
Chr6:76640662 [GRCh37]
Chr6:6q14.1		 likely benign
NM_001563.4(IMPG1):c.1652C>T (p.Thr551Ile) single nucleotide variant not provided [RCV005177436] Chr6:75950734 [GRCh38]
Chr6:76660451 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.301+5G>T single nucleotide variant not provided [RCV005140773] Chr6:76041888 [GRCh38]
Chr6:76751605 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.986A>G (p.Lys329Arg) single nucleotide variant not provided [RCV005132970] Chr6:76005436 [GRCh38]
Chr6:76715153 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.2164C>T (p.Leu722=) single nucleotide variant not provided [RCV005084232] Chr6:75931032 [GRCh38]
Chr6:76640749 [GRCh37]
Chr6:6q14.1		 likely benign
NM_001563.4(IMPG1):c.1581T>C (p.Thr527=) single nucleotide variant not provided [RCV005080563] Chr6:75950805 [GRCh38]
Chr6:76660522 [GRCh37]
Chr6:6q14.1		 likely benign
NM_001563.4(IMPG1):c.1291+17A>G single nucleotide variant not provided [RCV005154868] Chr6:76002901 [GRCh38]
Chr6:76712618 [GRCh37]
Chr6:6q14.1		 likely benign
NM_001563.4(IMPG1):c.454G>A (p.Asp152Asn) single nucleotide variant not provided [RCV005201929] Chr6:76034635 [GRCh38]
Chr6:76744352 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.1270G>A (p.Gly424Arg) single nucleotide variant not provided [RCV005073173] Chr6:76002939 [GRCh38]
Chr6:76712656 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.754G>T (p.Ala252Ser) single nucleotide variant not provided [RCV005128386] Chr6:76018771 [GRCh38]
Chr6:76728488 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.467A>G (p.Gln156Arg) single nucleotide variant not provided [RCV005129451] Chr6:76034622 [GRCh38]
Chr6:76744339 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.1151T>G (p.Leu384Arg) single nucleotide variant not provided [RCV005198717] Chr6:76003935 [GRCh38]
Chr6:76713652 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.1292A>C (p.Asp431Ala) single nucleotide variant not provided [RCV005199771] Chr6:75951094 [GRCh38]
Chr6:76660811 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.1754C>T (p.Ala585Val) single nucleotide variant not provided [RCV005069180] Chr6:75950632 [GRCh38]
Chr6:76660349 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.1789G>A (p.Glu597Lys) single nucleotide variant not provided [RCV005153997] Chr6:75950597 [GRCh38]
Chr6:76660314 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.690G>A (p.Val230=) single nucleotide variant not provided [RCV005126135] Chr6:76018835 [GRCh38]
Chr6:76728552 [GRCh37]
Chr6:6q14.1		 likely benign
NM_001563.4(IMPG1):c.345T>C (p.Asp115=) single nucleotide variant not provided [RCV005127328] Chr6:76034744 [GRCh38]
Chr6:76744461 [GRCh37]
Chr6:6q14.1		 likely benign
NM_001563.4(IMPG1):c.86A>G (p.Tyr29Cys) single nucleotide variant not provided [RCV005072639] Chr6:76042108 [GRCh38]
Chr6:76751825 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.854T>C (p.Val285Ala) single nucleotide variant not provided [RCV005199272] Chr6:76011178 [GRCh38]
Chr6:76720895 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.134C>T (p.Thr45Ile) single nucleotide variant not provided [RCV005154576] Chr6:76042060 [GRCh38]
Chr6:76751777 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.323A>G (p.Glu108Gly) single nucleotide variant not provided [RCV005124666] Chr6:76034766 [GRCh38]
Chr6:76744483 [GRCh37]
Chr6:6q14.1		 uncertain significance
NM_001563.4(IMPG1):c.2379T>C (p.Asp793=) single nucleotide variant not provided [RCV005068547] Chr6:75922104 [GRCh38]
Chr6:76631821 [GRCh37]
Chr6:6q14.1		 likely benign
miRNA Target Status (No longer updated)

Predicted Target Of
Summary Value
Count of predictions:2237
Count of miRNA genes:968
Interacting mature miRNAs:1128
Transcripts:ENST00000369950, ENST00000369952, ENST00000369963
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
596964372GWAS1083891_Hgut microbiome measurement, bone density QTL GWAS1083891 (human)4e-08gut microbiome measurement, bone density67595359175953592Human
597272280GWAS1368354_HBMI-adjusted hip circumference QTL GWAS1368354 (human)2e-08BMI-adjusted hip circumferencehip circumference (CMO:0000014)67594060275940603Human
597019671GWAS1115745_Hsmoking status measurement, systolic blood pressure QTL GWAS1115745 (human)5e-08smoking status measurement, systolic blood pressuresystolic blood pressure (CMO:0000004)67597908975979090Human
1298452OSTEAR16_HOsteoarthritis QTL 16 (human)1.850.0016Joint/bone inflammationhip osteoarthritis65725907283259072Human
596964412GWAS1083931_Hgut microbiome measurement, bone density QTL GWAS1083931 (human)3e-09gut microbiome measurement, bone density67605067876050679Human
597152637GWAS1248711_Hmemory performance, language measurement QTL GWAS1248711 (human)0.0000008memory performance, language measurement67593392575933926Human
596964410GWAS1083929_Hgut microbiome measurement, bone density QTL GWAS1083929 (human)2e-09gut microbiome measurement, bone density67603817976038180Human
596964411GWAS1083930_Hgut microbiome measurement, bone density QTL GWAS1083930 (human)3e-08gut microbiome measurement, bone density67596031475960315Human
407198645GWAS847621_Hgut microbiome measurement, bone density QTL GWAS847621 (human)3e-09gut microbiome measurement, bone density67605067876050679Human
407198644GWAS847620_Hgut microbiome measurement, bone density QTL GWAS847620 (human)2e-09gut microbiome measurement, bone density67603817976038180Human
407198643GWAS847619_Hgut microbiome measurement, bone density QTL GWAS847619 (human)3e-08gut microbiome measurement, bone density67596031475960315Human
407198642GWAS847618_Hgut microbiome measurement, bone density QTL GWAS847618 (human)4e-08gut microbiome measurement, bone density67595359175953592Human
597262596GWAS1358670_Hamino acid measurement QTL GWAS1358670 (human)0.000009amino acid measurement67594272675942727Human
597145896GWAS1241970_Hphotoreceptor cell layer thickness measurement QTL GWAS1241970 (human)1e-13photoreceptor cell layer thickness measurement67603822776038228Human

Markers in Region
RH103441  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37676,751,651 - 76,751,800UniSTSGRCh37
Build 36676,808,371 - 76,808,520RGDNCBI36
Celera677,144,894 - 77,145,043RGD
Cytogenetic Map6q14.2-q15UniSTS
HuRef673,950,326 - 73,950,475UniSTS
GeneMap99-GB4 RH Map6332.99UniSTS


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
renal system
reproductive system
respiratory system
sensory system
visual system
1201 2354 2762 2214 4825 1599 2133 2 520 1021 359 2196 6085 5494 11 3655 780 1636 1509 168 1

Sequence


Ensembl Acc Id: ENST00000369950   ⟹   ENSP00000358966
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl675,921,114 - 76,072,662 (-)Ensembl
Ensembl Acc Id: ENST00000369952   ⟹   ENSP00000358968
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl675,921,731 - 75,935,049 (-)Ensembl
Ensembl Acc Id: ENST00000369963   ⟹   ENSP00000358980
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl676,024,898 - 76,072,678 (-)Ensembl
Ensembl Acc Id: ENST00000611179   ⟹   ENSP00000481913
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl675,921,115 - 76,072,678 (-)Ensembl
RefSeq Acc Id: NM_001282368   ⟹   NP_001269297
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38675,921,114 - 76,072,662 (-)NCBI
HuRef673,829,601 - 73,981,062 (-)NCBI
CHM1_1676,797,081 - 76,948,573 (-)NCBI
T2T-CHM13v2.0677,097,995 - 77,249,656 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001563   ⟹   NP_001554
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38675,921,114 - 76,072,662 (-)NCBI
GRCh37676,631,062 - 76,782,335 (-)ENTREZGENE
Build 36676,687,782 - 76,839,055 (-)NCBI Archive
HuRef673,829,601 - 73,981,062 (-)NCBI
CHM1_1676,797,081 - 76,948,573 (-)NCBI
T2T-CHM13v2.0677,097,995 - 77,249,656 (-)NCBI
Sequence:
RefSeq Acc Id: NP_001554   ⟸   NM_001563
- Peptide Label: isoform 1 precursor
- UniProtKB: Q68D53 (UniProtKB/Swiss-Prot),   O95094 (UniProtKB/Swiss-Prot),   O43686 (UniProtKB/Swiss-Prot),   A6NNZ6 (UniProtKB/Swiss-Prot),   Q9BWZ1 (UniProtKB/Swiss-Prot),   Q17R60 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001269297   ⟸   NM_001282368
- Peptide Label: isoform 2 precursor
- UniProtKB: A0A087WYL3 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000481913   ⟸   ENST00000611179
Ensembl Acc Id: ENSP00000358980   ⟸   ENST00000369963
Ensembl Acc Id: ENSP00000358968   ⟸   ENST00000369952
Ensembl Acc Id: ENSP00000358966   ⟸   ENST00000369950
Protein Domains
EGF-like   SEA

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q17R60-F1-model_v2 AlphaFold Q17R60 1-797 view protein structure

Promoters
RGD ID:7208545
Promoter ID:EPDNEW_H10018
Type:initiation region
Name:IMPG1_1
Description:interphotoreceptor matrix proteoglycan 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38676,072,633 - 76,072,693EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:6055 AgrOrtholog
COSMIC IMPG1 COSMIC
Ensembl Genes ENSG00000112706 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000369950 ENTREZGENE
  ENST00000369950.8 UniProtKB/Swiss-Prot
  ENST00000611179 ENTREZGENE
Gene3D-CATH 3.30.70.960 UniProtKB/Swiss-Prot
GTEx ENSG00000112706 GTEx
HGNC ID HGNC:6055 ENTREZGENE
Human Proteome Map IMPG1 Human Proteome Map
InterPro EGF-like_dom UniProtKB/Swiss-Prot
  IMPG UniProtKB/Swiss-Prot
  SEA_dom UniProtKB/Swiss-Prot
  SEA_dom_sf UniProtKB/Swiss-Prot
KEGG Report hsa:3617 UniProtKB/Swiss-Prot
NCBI Gene 3617 ENTREZGENE
OMIM 602870 OMIM
PANTHER INTERPHOTORECEPTOR MATRIX PROTEOGLYCAN 1 UniProtKB/Swiss-Prot
  PTHR12199 UniProtKB/Swiss-Prot
Pfam SEA UniProtKB/Swiss-Prot
PharmGKB PA29865 PharmGKB
PROSITE SEA UniProtKB/Swiss-Prot
SMART SEA UniProtKB/Swiss-Prot
Superfamily-SCOP SSF82671 UniProtKB/Swiss-Prot
UniProt A0A087WYL3 ENTREZGENE, UniProtKB/TrEMBL
  A0A0R4J2E9_HUMAN UniProtKB/TrEMBL
  A6NNZ6 ENTREZGENE
  IMPG1_HUMAN UniProtKB/Swiss-Prot
  O43686 ENTREZGENE
  O95094 ENTREZGENE
  Q17R60 ENTREZGENE
  Q5JSC4_HUMAN UniProtKB/TrEMBL
  Q68D53 ENTREZGENE
  Q9BWZ1 ENTREZGENE
UniProt Secondary A6NNZ6 UniProtKB/Swiss-Prot
  O43686 UniProtKB/Swiss-Prot
  O95094 UniProtKB/Swiss-Prot
  Q68D53 UniProtKB/Swiss-Prot
  Q9BWZ1 UniProtKB/Swiss-Prot