KIZ (kizuna centrosomal protein) - Rat Genome Database

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Gene: KIZ (kizuna centrosomal protein) Homo sapiens
Analyze
Symbol: KIZ
Name: kizuna centrosomal protein
RGD ID: 1316045
HGNC Page HGNC:15865
Description: Enables protein kinase binding activity. Involved in spindle organization. Located in centrosome. Implicated in retinitis pigmentosa 69.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: C20orf19; centrosomal protein kizuna; DKFZp586H021; HT013; Kizuna; MGC102941; MGC141930; NCRNA00153; PLK1S1; polo-like kinase 1 substrate 1; RP69
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
GRCh382021,125,975 - 21,246,622 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2021,125,983 - 21,246,622 (+)EnsemblGRCh38hg38GRCh38
GRCh372021,106,616 - 21,227,260 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362021,054,646 - 21,175,260 (+)NCBINCBI36Build 36hg18NCBI36
Build 342021,054,694 - 21,175,256NCBI
Celera2021,183,174 - 21,303,815 (+)NCBICelera
Cytogenetic Map20p11.23NCBI
HuRef2021,071,704 - 21,192,358 (+)NCBIHuRef
CHM1_12021,107,363 - 21,227,996 (+)NCBICHM1_1
T2T-CHM13v2.02021,186,759 - 21,305,970 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
spindle organization  (IBA,IEA,IMP)

Cellular Component
cell projection  (IEA)
centrosome  (IBA,IDA,IEA)
cytoplasm  (IEA)
cytoskeleton  (IEA)
membrane  (IEA)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
2. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:12477932   PMID:14702039   PMID:16980960   PMID:19536135   PMID:20301590   PMID:21873635   PMID:24453475   PMID:24613305   PMID:24680887   PMID:24925725   PMID:25416956   PMID:25558830  
PMID:26638075   PMID:28514442   PMID:28611215   PMID:28718761   PMID:29395067   PMID:30585266   PMID:30745168   PMID:32052671   PMID:32296183   PMID:32814053   PMID:33000253   PMID:33961781  
PMID:34079125   PMID:38927740  


Genomics

Comparative Map Data
KIZ
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382021,125,975 - 21,246,622 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2021,125,983 - 21,246,622 (+)EnsemblGRCh38hg38GRCh38
GRCh372021,106,616 - 21,227,260 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362021,054,646 - 21,175,260 (+)NCBINCBI36Build 36hg18NCBI36
Build 342021,054,694 - 21,175,256NCBI
Celera2021,183,174 - 21,303,815 (+)NCBICelera
Cytogenetic Map20p11.23NCBI
HuRef2021,071,704 - 21,192,358 (+)NCBIHuRef
CHM1_12021,107,363 - 21,227,996 (+)NCBICHM1_1
T2T-CHM13v2.02021,186,759 - 21,305,970 (+)NCBIT2T-CHM13v2.0
Kiz
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm392146,697,743 - 146,812,018 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl2146,697,784 - 146,812,017 (+)EnsemblGRCm39 Ensembl
GRCm382146,855,825 - 146,970,098 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl2146,855,864 - 146,970,097 (+)EnsemblGRCm38mm10GRCm38
MGSCv372146,681,625 - 146,795,825 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv362146,547,328 - 146,661,530 (+)NCBIMGSCv36mm8
Celera2148,106,851 - 148,232,298 (+)NCBICelera
Cytogenetic Map2G2NCBI
cM Map272.63NCBI
Kiz
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr83154,730,873 - 154,838,410 (+)NCBIGRCr8
mRatBN7.23134,277,631 - 134,385,260 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl3134,277,687 - 134,385,190 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx3138,189,970 - 138,298,151 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.03146,774,065 - 146,882,251 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.03144,477,231 - 144,585,406 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.03141,067,981 - 141,173,738 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl3141,068,023 - 141,173,858 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.03147,486,119 - 147,591,815 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.43135,488,158 - 135,598,982 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.13135,393,580 - 135,504,601 (+)NCBI
Celera3133,139,893 - 133,248,521 (+)NCBICelera
Cytogenetic Map3q41NCBI
Kiz
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541528,991,630 - 29,078,884 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495541528,991,766 - 29,078,796 (+)NCBIChiLan1.0ChiLan1.0
KIZ
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22122,014,744 - 22,135,698 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12022,011,575 - 22,132,534 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v02021,083,709 - 21,204,456 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12021,045,145 - 21,165,789 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2021,045,120 - 21,165,789 (+)Ensemblpanpan1.1panPan2
KIZ
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1242,174,905 - 2,305,860 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl242,174,905 - 2,305,811 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha242,203,132 - 2,334,123 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0242,582,201 - 2,713,206 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl242,582,201 - 2,713,569 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1242,179,382 - 2,310,248 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0242,282,203 - 2,413,181 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0242,559,220 - 2,691,071 (-)NCBIUU_Cfam_GSD_1.0
Kiz
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024408640150,767,892 - 150,890,265 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049366204,185,898 - 4,310,738 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049366204,188,350 - 4,310,708 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
KIZ
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1728,980,328 - 29,082,392 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11728,975,131 - 29,082,397 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21732,928,130 - 33,035,561 (+)NCBISscrofa10.2Sscrofa10.2susScr3
KIZ
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1250,113,210 - 50,235,910 (+)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_0236660784,904,218 - 5,034,234 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Kiz
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462474121,566,085 - 21,669,837 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462474121,566,094 - 21,668,613 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in KIZ
402 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 20p13-11.21(chr20:89939-25697564)x3 copy number gain See cases [RCV000051227] Chr20:89939..25697564 [GRCh38]
Chr20:70580..25678200 [GRCh37]
Chr20:18580..25626200 [NCBI36]
Chr20:20p13-11.21		 pathogenic
GRCh38/hg38 20p13-11.22(chr20:89939-21787252)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052996]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052996]|See cases [RCV000052996] Chr20:89939..21787252 [GRCh38]
Chr20:70580..21767890 [GRCh37]
Chr20:18580..21715890 [NCBI36]
Chr20:20p13-11.22		 pathogenic
GRCh38/hg38 20p12.2-q12(chr20:9811433-39316956)x3 copy number gain See cases [RCV000052999] Chr20:9811433..39316956 [GRCh38]
Chr20:9792081..37945599 [GRCh37]
Chr20:9740081..37379013 [NCBI36]
Chr20:20p12.2-q12		 pathogenic
NM_018474.6(KIZ):c.226C>T (p.Arg76Ter) single nucleotide variant KIZ-related disorder [RCV003390800]|Retinal dystrophy [RCV001073648]|Retinitis pigmentosa 69 [RCV000116208]|Retinitis pigmentosa [RCV001003070]|not provided [RCV000760516] Chr20:21136463 [GRCh38]
Chr20:21117104 [GRCh37]
Chr20:20p11.23		 pathogenic|conflicting interpretations of pathogenicity
NM_018474.6(KIZ):c.52G>T (p.Glu18Ter) single nucleotide variant Retinitis pigmentosa 69 [RCV000116209]|not provided [RCV001854564] Chr20:21126167 [GRCh38]
Chr20:21106808 [GRCh37]
Chr20:20p11.23		 pathogenic
NM_018474.6(KIZ):c.119_122del (p.Lys40fs) deletion Retinal dystrophy [RCV001073516]|Retinitis pigmentosa 69 [RCV000116210]|Retinitis pigmentosa [RCV004017401]|not provided [RCV001385861] Chr20:21132126..21132129 [GRCh38]
Chr20:21112767..21112770 [GRCh37]
Chr20:20p11.23		 pathogenic
NM_018474.6(KIZ):c.1490G>A (p.Arg497His) single nucleotide variant not provided [RCV001312741] Chr20:21214578 [GRCh38]
Chr20:21195216 [GRCh37]
Chr20:20p11.23		 uncertain significance
NM_018474.6(KIZ):c.1352+23dup duplication not provided [RCV001512855] Chr20:21163172..21163173 [GRCh38]
Chr20:21143813..21143814 [GRCh37]
Chr20:20p11.23		 benign
GRCh38/hg38 20p13-q11.1(chr20:80106-30227427)x3 copy number gain See cases [RCV000133996] Chr20:80106..30227427 [GRCh38]
Chr20:60747..29462103 [GRCh37]
Chr20:8747..28075764 [NCBI36]
Chr20:20p13-q11.1		 pathogenic
GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3 copy number gain See cases [RCV000135859] Chr20:99557..64277321 [GRCh38]
Chr20:80198..62908674 [GRCh37]
Chr20:28198..62379118 [NCBI36]
Chr20:20p13-q13.33		 pathogenic
GRCh38/hg38 20p12.1-11.22(chr20:17772771-21426789)x1 copy number loss See cases [RCV000135439] Chr20:17772771..21426789 [GRCh38]
Chr20:17753416..21407427 [GRCh37]
Chr20:17701416..21355427 [NCBI36]
Chr20:20p12.1-11.22		 pathogenic
GRCh38/hg38 20p13-11.1(chr20:80927-26324843)x3 copy number gain See cases [RCV000142017] Chr20:80927..26324843 [GRCh38]
Chr20:61568..26305479 [GRCh37]
Chr20:9568..26253479 [NCBI36]
Chr20:20p13-11.1		 pathogenic
GRCh37/hg19 20p13-11.1(chr20:80198-26075841)x3 copy number gain See cases [RCV000239954] Chr20:80198..26075841 [GRCh37]
Chr20:20p13-11.1		 pathogenic
GRCh37/hg19 20p12.1-q11.21(chr20:17705775-31600738)x3 copy number gain See cases [RCV000240436] Chr20:17705775..31600738 [GRCh37]
Chr20:20p12.1-q11.21		 pathogenic
GRCh37/hg19 20p13-q11.21(chr20:80198-26208081)x3 copy number gain not provided [RCV000487461] Chr20:80198..26208081 [GRCh37]
Chr20:20p13-q11.21		 pathogenic
GRCh37/hg19 20p11.23-11.1(chr20:18500917-25847320)x1 copy number loss See cases [RCV000510621] Chr20:18500917..25847320 [GRCh37]
Chr20:20p11.23-11.1		 pathogenic
GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3 copy number gain See cases [RCV000510832] Chr20:61569..62915555 [GRCh37]
Chr20:20p13-q13.33		 pathogenic
NM_018474.6(KIZ):c.444G>A (p.Met148Ile) single nucleotide variant not specified [RCV004323750] Chr20:21161909 [GRCh38]
Chr20:21142550 [GRCh37]
Chr20:20p11.23		 uncertain significance
GRCh37/hg19 20p13-q13.33(chr20:61569-62915555) copy number gain See cases [RCV000512450] Chr20:61569..62915555 [GRCh37]
Chr20:20p13-q13.33		 pathogenic
Single allele duplication not provided [RCV000677978] Chr20:17705775..31600738 [GRCh37]
Chr20:20p12.1-q11.21		 pathogenic
GRCh37/hg19 20p11.23-11.21(chr20:21011162-22353628)x3 copy number gain not provided [RCV000684128] Chr20:21011162..22353628 [GRCh37]
Chr20:20p11.23-11.21		 uncertain significance
GRCh37/hg19 20p13-q13.33(chr20:63244-62948788)x3 copy number gain not provided [RCV000741058] Chr20:63244..62948788 [GRCh37]
Chr20:20p13-q13.33		 pathogenic
GRCh37/hg19 20p13-q13.33(chr20:63244-62961294)x3 copy number gain not provided [RCV000741059] Chr20:63244..62961294 [GRCh37]
Chr20:20p13-q13.33		 pathogenic
GRCh37/hg19 20p13-q13.33(chr20:63244-62912463)x3 copy number gain not provided [RCV000741057] Chr20:63244..62912463 [GRCh37]
Chr20:20p13-q13.33		 pathogenic
NM_018474.6(KIZ):c.1924+3G>A single nucleotide variant not provided [RCV000961693] Chr20:21244291 [GRCh38]
Chr20:21224929 [GRCh37]
Chr20:20p11.23		 benign
NM_018474.6(KIZ):c.251_258del (p.Phe84fs) deletion Retinitis pigmentosa [RCV001199698]|not provided [RCV000997749] Chr20:21136487..21136494 [GRCh38]
Chr20:21117128..21117135 [GRCh37]
Chr20:20p11.23		 pathogenic|likely pathogenic
NM_018474.6(KIZ):c.942A>G (p.Lys314=) single nucleotide variant KIZ-related disorder [RCV003912897]|Retinal dystrophy [RCV003890037]|not provided [RCV000903093] Chr20:21162407 [GRCh38]
Chr20:21143048 [GRCh37]
Chr20:20p11.23		 likely benign
NM_018474.6(KIZ):c.666_737del (p.Asp222_Glu245del) deletion not provided [RCV000971085] Chr20:21162129..21162200 [GRCh38]
Chr20:21142770..21142841 [GRCh37]
Chr20:20p11.23		 likely benign
NM_018474.6(KIZ):c.1809C>T (p.Phe603=) single nucleotide variant Retinitis pigmentosa 69 [RCV002503032]|not provided [RCV000965469] Chr20:21232759 [GRCh38]
Chr20:21213397 [GRCh37]
Chr20:20p11.23		 benign|likely benign
NM_018474.6(KIZ):c.405+10T>C single nucleotide variant not provided [RCV000903035] Chr20:21145664 [GRCh38]
Chr20:21126305 [GRCh37]
Chr20:20p11.23		 likely benign
NM_018474.6(KIZ):c.257G>A (p.Arg86His) single nucleotide variant not provided [RCV001037209]|not specified [RCV004031024] Chr20:21136494 [GRCh38]
Chr20:21117135 [GRCh37]
Chr20:20p11.23		 likely benign|uncertain significance
NM_018474.6(KIZ):c.533A>G (p.Lys178Arg) single nucleotide variant not provided [RCV001037414]|not specified [RCV004031030] Chr20:21161998 [GRCh38]
Chr20:21142639 [GRCh37]
Chr20:20p11.23		 uncertain significance
NM_018474.6(KIZ):c.1150G>A (p.Glu384Lys) single nucleotide variant not provided [RCV001044103] Chr20:21162957 [GRCh38]
Chr20:21143598 [GRCh37]
Chr20:20p11.23		 uncertain significance
NM_018474.6(KIZ):c.583C>T (p.Arg195Ter) single nucleotide variant Retinal dystrophy [RCV001075798]|not provided [RCV001862854] Chr20:21162048 [GRCh38]
Chr20:21142689 [GRCh37]
Chr20:20p11.23		 pathogenic|likely pathogenic
NM_018474.6(KIZ):c.1783+15A>G single nucleotide variant Retinal dystrophy [RCV001075799]|not provided [RCV002067734] Chr20:21229130 [GRCh38]
Chr20:21209768 [GRCh37]
Chr20:20p11.23		 likely benign|uncertain significance
NM_018474.6(KIZ):c.1976G>A (p.Arg659His) single nucleotide variant not provided [RCV001039175] Chr20:21246530 [GRCh38]
Chr20:21227168 [GRCh37]
Chr20:20p11.23		 uncertain significance
GRCh37/hg19 20p12.3-11.22(chr20:8571696-22088650)x1 copy number loss not provided [RCV001007080] Chr20:8571696..22088650 [GRCh37]
Chr20:20p12.3-11.22		 pathogenic
NM_018474.6(KIZ):c.257G>T (p.Arg86Leu) single nucleotide variant not provided [RCV001041463] Chr20:21136494 [GRCh38]
Chr20:21117135 [GRCh37]
Chr20:20p11.23		 uncertain significance
NM_018474.6(KIZ):c.775C>T (p.Arg259Cys) single nucleotide variant Retinal dystrophy [RCV003890227]|not provided [RCV001070127] Chr20:21162240 [GRCh38]
Chr20:21142881 [GRCh37]
Chr20:20p11.23		 uncertain significance
NM_018474.6(KIZ):c.961T>C (p.Ser321Pro) single nucleotide variant Retinal dystrophy [RCV003890049]|not provided [RCV000907210] Chr20:21162426 [GRCh38]
Chr20:21143067 [GRCh37]
Chr20:20p11.23		 likely benign
NM_018474.6(KIZ):c.509T>G (p.Met170Arg) single nucleotide variant not provided [RCV000969117] Chr20:21161974 [GRCh38]
Chr20:21142615 [GRCh37]
Chr20:20p11.23		 benign
NM_018474.6(KIZ):c.1488C>T (p.Gly496=) single nucleotide variant not provided [RCV000961692] Chr20:21214576 [GRCh38]
Chr20:21195214 [GRCh37]
Chr20:20p11.23		 benign
NM_018474.6(KIZ):c.830C>T (p.Pro277Leu) single nucleotide variant not provided [RCV001053961] Chr20:21162295 [GRCh38]
Chr20:21142936 [GRCh37]
Chr20:20p11.23		 uncertain significance
GRCh37/hg19 20p11.23-11.22(chr20:20817608-21771865)x3 copy number gain not provided [RCV000847145] Chr20:20817608..21771865 [GRCh37]
Chr20:20p11.23-11.22		 uncertain significance
NM_018474.6(KIZ):c.357A>C (p.Lys119Asn) single nucleotide variant not provided [RCV001230971] Chr20:21145606 [GRCh38]
Chr20:21126247 [GRCh37]
Chr20:20p11.23		 uncertain significance
NM_018474.6(KIZ):c.416_417delinsGG (p.His139Arg) indel not provided [RCV001231413] Chr20:21161881..21161882 [GRCh38]
Chr20:21142522..21142523 [GRCh37]
Chr20:20p11.23		 uncertain significance
NM_018474.6(KIZ):c.1073A>C (p.Gln358Pro) single nucleotide variant not provided [RCV001229922] Chr20:21162880 [GRCh38]
Chr20:21143521 [GRCh37]
Chr20:20p11.23		 uncertain significance
NM_018474.6(KIZ):c.11C>T (p.Thr4Ile) single nucleotide variant not provided [RCV001221979] Chr20:21126126 [GRCh38]
Chr20:21106767 [GRCh37]
Chr20:20p11.23		 uncertain significance
NM_018474.6(KIZ):c.1001dup (p.Trp335fs) duplication not provided [RCV001217020] Chr20:21162464..21162465 [GRCh38]
Chr20:21143105..21143106 [GRCh37]
Chr20:20p11.23		 pathogenic
NM_018474.6(KIZ):c.951_958del (p.Pro318fs) deletion not provided [RCV001238371] Chr20:21162411..21162418 [GRCh38]
Chr20:21143052..21143059 [GRCh37]
Chr20:20p11.23		 pathogenic
NM_018474.6(KIZ):c.485G>A (p.Arg162His) single nucleotide variant not provided [RCV001242248] Chr20:21161950 [GRCh38]
Chr20:21142591 [GRCh37]
Chr20:20p11.23		 uncertain significance
NM_018474.6(KIZ):c.545C>A (p.Pro182His) single nucleotide variant not provided [RCV001212345]|not specified [RCV004033853] Chr20:21162010 [GRCh38]
Chr20:21142651 [GRCh37]
Chr20:20p11.23		 uncertain significance
NM_018474.6(KIZ):c.1126A>G (p.Ser376Gly) single nucleotide variant not provided [RCV001225671] Chr20:21162933 [GRCh38]
Chr20:21143574 [GRCh37]
Chr20:20p11.23		 uncertain significance
NM_018474.6(KIZ):c.1612G>A (p.Glu538Lys) single nucleotide variant not provided [RCV001228265] Chr20:21214700 [GRCh38]
Chr20:21195338 [GRCh37]
Chr20:20p11.23		 uncertain significance
NM_018474.6(KIZ):c.386C>T (p.Thr129Ile) single nucleotide variant not provided [RCV001062457]|not specified [RCV004030456] Chr20:21145635 [GRCh38]
Chr20:21126276 [GRCh37]
Chr20:20p11.23		 uncertain significance
NM_018474.6(KIZ):c.976T>G (p.Ser326Ala) single nucleotide variant not provided [RCV001229989] Chr20:21162441 [GRCh38]
Chr20:21143082 [GRCh37]
Chr20:20p11.23		 uncertain significance
NM_018474.6(KIZ):c.1277A>G (p.Glu426Gly) single nucleotide variant not provided [RCV001212507]|not specified [RCV004033857] Chr20:21163084 [GRCh38]
Chr20:21143725 [GRCh37]
Chr20:20p11.23		 uncertain significance
NM_018474.6(KIZ):c.56G>C (p.Arg19Thr) single nucleotide variant not provided [RCV003237083] Chr20:21126171 [GRCh38]
Chr20:21106812 [GRCh37]
Chr20:20p11.23		 uncertain significance
NM_018474.6(KIZ):c.858C>G (p.Asn286Lys) single nucleotide variant not specified [RCV004315258] Chr20:21162323 [GRCh38]
Chr20:21142964 [GRCh37]
Chr20:20p11.23		 uncertain significance
NM_018474.6(KIZ):c.1660G>T (p.Ala554Ser) single nucleotide variant not provided [RCV001573751] Chr20:21215630 [GRCh38]
Chr20:21196268 [GRCh37]
Chr20:20p11.23		 likely benign|uncertain significance
NM_018474.6(KIZ):c.1723A>G (p.Asn575Asp) single nucleotide variant not provided [RCV000905025] Chr20:21229055 [GRCh38]
Chr20:21209693 [GRCh37]
Chr20:20p11.23		 likely benign
NM_018474.6(KIZ):c.1870C>T (p.Pro624Ser) single nucleotide variant not provided [RCV000887283] Chr20:21232820 [GRCh38]
Chr20:21213458 [GRCh37]
Chr20:20p11.23		 benign
NM_018474.6(KIZ):c.256C>T (p.Arg86Cys) single nucleotide variant not provided [RCV000910097] Chr20:21136493 [GRCh38]
Chr20:21117134 [GRCh37]
Chr20:20p11.23		 likely benign
NM_018474.6(KIZ):c.1520_1522del (p.Ser507del) deletion not provided [RCV000909341] Chr20:21214607..21214609 [GRCh38]
Chr20:21195245..21195247 [GRCh37]
Chr20:20p11.23		 likely benign
NM_018474.6(KIZ):c.48C>T (p.Tyr16=) single nucleotide variant Retinal dystrophy [RCV003890116]|not provided [RCV000959605] Chr20:21126163 [GRCh38]
Chr20:21106804 [GRCh37]
Chr20:20p11.23		 benign|likely benign
NM_018474.6(KIZ):c.929A>T (p.Glu310Val) single nucleotide variant not provided [RCV000970914] Chr20:21162394 [GRCh38]
Chr20:21143035 [GRCh37]
Chr20:20p11.23		 benign
NM_018474.6(KIZ):c.698G>A (p.Gly233Asp) single nucleotide variant not provided [RCV000908254] Chr20:21162163 [GRCh38]
Chr20:21142804 [GRCh37]
Chr20:20p11.23		 benign
NM_018474.6(KIZ):c.14T>G (p.Leu5Arg) single nucleotide variant not provided [RCV001207682] Chr20:21126129 [GRCh38]
Chr20:21106770 [GRCh37]
Chr20:20p11.23		 uncertain significance
NM_018474.6(KIZ):c.917G>A (p.Arg306Gln) single nucleotide variant not provided [RCV001226393]|not specified [RCV004032571] Chr20:21162382 [GRCh38]
Chr20:21143023 [GRCh37]
Chr20:20p11.23		 likely benign|uncertain significance
NM_018474.6(KIZ):c.86_89+19del deletion Retinitis pigmentosa 69 [RCV001089482] Chr20:21126196..21126218 [GRCh38]
Chr20:21106837..21106859 [GRCh37]
Chr20:20p11.23		 pathogenic
NM_018474.6(KIZ):c.396C>G (p.Asp132Glu) single nucleotide variant not provided [RCV001245001] Chr20:21145645 [GRCh38]
Chr20:21126286 [GRCh37]
Chr20:20p11.23		 uncertain significance
NM_018474.6(KIZ):c.1678+2T>C single nucleotide variant not provided [RCV001208721] Chr20:21215650 [GRCh38]
Chr20:21196288 [GRCh37]
Chr20:20p11.23		 likely pathogenic
NM_018474.6(KIZ):c.997A>C (p.Asn333His) single nucleotide variant not provided [RCV001243688]|not specified [RCV004034760] Chr20:21162462 [GRCh38]
Chr20:21143103 [GRCh37]
Chr20:20p11.23		 uncertain significance
NM_018474.6(KIZ):c.499A>G (p.Ile167Val) single nucleotide variant not provided [RCV001054818] Chr20:21161964 [GRCh38]
Chr20:21142605 [GRCh37]
Chr20:20p11.23		 uncertain significance
NM_018474.6(KIZ):c.319G>A (p.Glu107Lys) single nucleotide variant not provided [RCV001064322]|not specified [RCV004030532] Chr20:21145568 [GRCh38]
Chr20:21126209 [GRCh37]
Chr20:20p11.23		 uncertain significance
NM_018474.6(KIZ):c.1975C>T (p.Arg659Cys) single nucleotide variant not provided [RCV001241411] Chr20:21246529 [GRCh38]
Chr20:21227167 [GRCh37]
Chr20:20p11.23		 likely benign|uncertain significance
NM_018474.6(KIZ):c.1387G>A (p.Ala463Thr) single nucleotide variant not provided [RCV001241865] Chr20:21205525 [GRCh38]
Chr20:21186163 [GRCh37]
Chr20:20p11.23		 uncertain significance
NM_018474.6(KIZ):c.1904del (p.Val635fs) deletion not provided [RCV001244209] Chr20:21244268 [GRCh38]
Chr20:21224906 [GRCh37]
Chr20:20p11.23		 uncertain significance
NM_018474.6(KIZ):c.348A>G (p.Leu116=) single nucleotide variant not provided [RCV000955581] Chr20:21145597 [GRCh38]
Chr20:21126238 [GRCh37]
Chr20:20p11.23		 benign
NM_018474.6(KIZ):c.116del (p.Lys39fs) deletion not provided [RCV001545305] Chr20:21132120 [GRCh38]
Chr20:21112761 [GRCh37]
Chr20:20p11.23		 pathogenic|likely pathogenic
GRCh37/hg19 20p13-11.1(chr20:61568-26305479)x3 copy number gain not provided [RCV001007068] Chr20:61568..26305479 [GRCh37]
Chr20:20p13-11.1		 pathogenic
NM_018474.6(KIZ):c.505A>G (p.Ser169Gly) single nucleotide variant not provided [RCV001058202] Chr20:21161970 [GRCh38]
Chr20:21142611 [GRCh37]
Chr20:20p11.23		 uncertain significance
NM_018474.6(KIZ):c.89+6G>A single nucleotide variant not provided [RCV001063367] Chr20:21126210 [GRCh38]
Chr20:21106851 [GRCh37]
Chr20:20p11.23		 uncertain significance
NM_018474.6(KIZ):c.1382C>T (p.Pro461Leu) single nucleotide variant not provided [RCV001039962]|not specified [RCV004031123] Chr20:21205520 [GRCh38]
Chr20:21186159 [GRCh37]
Chr20:20p11.23		 likely benign|uncertain significance
NM_018474.6(KIZ):c.1395_1398dup (p.Gln467fs) duplication Retinal dystrophy [RCV001075216]|not provided [RCV001862601] Chr20:21205529..21205530 [GRCh38]
Chr20:21186167..21186168 [GRCh37]
Chr20:20p11.23		 pathogenic|likely pathogenic
NM_018474.6(KIZ):c.706dup (p.Met236fs) duplication not provided [RCV001071827] Chr20:21162167..21162168 [GRCh38]
Chr20:21142808..21142809 [GRCh37]
Chr20:20p11.23		 pathogenic
NM_018474.6(KIZ):c.762_763inv (p.Gly255Ter) inversion not provided [RCV001233212] Chr20:21162227..21162228 [GRCh38]
Chr20:21142868..21142869 [GRCh37]
Chr20:20p11.23		 pathogenic
NM_018474.6(KIZ):c.1091T>C (p.Met364Thr) single nucleotide variant not provided [RCV001206981]|not specified [RCV004033683] Chr20:21162898 [GRCh38]
Chr20:21143539 [GRCh37]
Chr20:20p11.23		 uncertain significance
NM_018474.6(KIZ):c.773C>T (p.Thr258Ile) single nucleotide variant not provided [RCV001218306] Chr20:21162238 [GRCh38]
Chr20:21142879 [GRCh37]
Chr20:20p11.23		 uncertain significance
NM_018474.6(KIZ):c.236A>G (p.Glu79Gly) single nucleotide variant not provided [RCV001204425] Chr20:21136473 [GRCh38]
Chr20:21117114 [GRCh37]
Chr20:20p11.23		 uncertain significance
NM_018474.6(KIZ):c.442A>G (p.Met148Val) single nucleotide variant not provided [RCV001202446] Chr20:21161907 [GRCh38]
Chr20:21142548 [GRCh37]
Chr20:20p11.23		 uncertain significance
NM_018474.6(KIZ):c.1991A>G (p.Asn664Ser) single nucleotide variant not provided [RCV001038183] Chr20:21246545 [GRCh38]
Chr20:21227183 [GRCh37]
Chr20:20p11.23		 uncertain significance
NM_018474.6(KIZ):c.1996G>A (p.Asp666Asn) single nucleotide variant not provided [RCV001232687] Chr20:21246550 [GRCh38]
Chr20:21227188 [GRCh37]
Chr20:20p11.23		 uncertain significance
NM_018474.6(KIZ):c.95AGA[1] (p.Lys33del) microsatellite not provided [RCV001294314] Chr20:21132101..21132103 [GRCh38]
Chr20:21112742..21112744 [GRCh37]
Chr20:20p11.23		 uncertain significance
NM_018474.6(KIZ):c.491T>G (p.Met164Arg) single nucleotide variant not provided [RCV001304083] Chr20:21161956 [GRCh38]
Chr20:21142597 [GRCh37]
Chr20:20p11.23		 uncertain significance
GRCh37/hg19 20p11.23-q11.21(chr20:19750804-30479077)x3 copy number gain not provided [RCV001258738] Chr20:19750804..30479077 [GRCh37]
Chr20:20p11.23-q11.21		 likely pathogenic
NM_018474.6(KIZ):c.1429A>T (p.Asn477Tyr) single nucleotide variant not provided [RCV001304782] Chr20:21205567 [GRCh38]
Chr20:21186205 [GRCh37]
Chr20:20p11.23		 uncertain significance
NM_018474.6(KIZ):c.1612+2T>G single nucleotide variant not provided [RCV001377728] Chr20:21214702 [GRCh38]
Chr20:21195340 [GRCh37]
Chr20:20p11.23		 pathogenic|likely pathogenic
NM_018474.6(KIZ):c.1196G>A (p.Gly399Asp) single nucleotide variant not provided [RCV001301913] Chr20:21163003 [GRCh38]
Chr20:21143644 [GRCh37]
Chr20:20p11.23		 uncertain significance
NM_018474.6(KIZ):c.277C>T (p.His93Tyr) single nucleotide variant not provided [RCV001295930] Chr20:21136514 [GRCh38]
Chr20:21117155 [GRCh37]
Chr20:20p11.23		 uncertain significance
NM_018474.6(KIZ):c.2006A>G (p.Asp669Gly) single nucleotide variant not provided [RCV001302261] Chr20:21246560 [GRCh38]
Chr20:21227198 [GRCh37]
Chr20:20p11.23		 uncertain significance
NC_000020.10:g.(?_21142512)_(21186222_?)del deletion not provided [RCV001339589] Chr20:21142512..21186222 [GRCh37]
Chr20:20p11.23		 uncertain significance
NM_018474.6(KIZ):c.1353-2A>C single nucleotide variant not provided [RCV002049160] Chr20:21205489 [GRCh38]
Chr20:21186128 [GRCh37]
Chr20:20p11.23		 pathogenic|likely pathogenic
NM_018474.6(KIZ):c.1705A>G (p.Lys569Glu) single nucleotide variant not provided [RCV001340543] Chr20:21229037 [GRCh38]
Chr20:21209675 [GRCh37]
Chr20:20p11.23		 uncertain significance
NM_018474.6(KIZ):c.208G>A (p.Glu70Lys) single nucleotide variant not provided [RCV001306325] Chr20:21136445 [GRCh38]
Chr20:21117086 [GRCh37]
Chr20:20p11.23		 uncertain significance
NM_018474.6(KIZ):c.1846A>G (p.Ser616Gly) single nucleotide variant not provided [RCV001325141] Chr20:21232796 [GRCh38]
Chr20:21213434 [GRCh37]
Chr20:20p11.23		 uncertain significance
NM_018474.6(KIZ):c.477T>C (p.Phe159=) single nucleotide variant not provided [RCV001433037] Chr20:21161942 [GRCh38]
Chr20:21142583 [GRCh37]
Chr20:20p11.23		 likely benign
NM_018474.6(KIZ):c.198dup (p.Cys67fs) duplication not provided [RCV001382843] Chr20:21136434..21136435 [GRCh38]
Chr20:21117075..21117076 [GRCh37]
Chr20:20p11.23		 pathogenic
NM_018474.6(KIZ):c.1412C>T (p.Thr471Ile) single nucleotide variant not provided [RCV001339036] Chr20:21205550 [GRCh38]
Chr20:21186188 [GRCh37]
Chr20:20p11.23		 uncertain significance
NM_018474.6(KIZ):c.27G>T (p.Val9=) single nucleotide variant not provided [RCV001370728] Chr20:21126142 [GRCh38]
Chr20:21106783 [GRCh37]
Chr20:20p11.23		 likely benign|uncertain significance
NM_018474.6(KIZ):c.443T>C (p.Met148Thr) single nucleotide variant not provided [RCV001371627] Chr20:21161908 [GRCh38]
Chr20:21142549 [GRCh37]
Chr20:20p11.23		 uncertain significance
NM_018474.6(KIZ):c.102A>T (p.Arg34Ser) single nucleotide variant not provided [RCV001362093] Chr20:21132109 [GRCh38]
Chr20:21112750 [GRCh37]
Chr20:20p11.23		 uncertain significance
NM_018474.6(KIZ):c.857A>G (p.Asn286Ser) single nucleotide variant not provided [RCV001346419] Chr20:21162322 [GRCh38]
Chr20:21142963 [GRCh37]
Chr20:20p11.23		 uncertain significance
NM_018474.6(KIZ):c.953C>T (p.Pro318Leu) single nucleotide variant not provided [RCV001318452] Chr20:21162418 [GRCh38]
Chr20:21143059 [GRCh37]
Chr20:20p11.23		 uncertain significance
NM_018474.6(KIZ):c.359A>T (p.Asp120Val) single nucleotide variant not provided [RCV001359139]|not specified [RCV004034520] Chr20:21145608 [GRCh38]
Chr20:21126249 [GRCh37]
Chr20:20p11.23		 uncertain significance
NM_018474.6(KIZ):c.1843G>T (p.Ala615Ser) single nucleotide variant not provided [RCV001320259] Chr20:21232793 [GRCh38]
Chr20:21213431 [GRCh37]
Chr20:20p11.23		 uncertain significance
NM_018474.6(KIZ):c.824A>G (p.Asn275Ser) single nucleotide variant not provided [RCV001305590] Chr20:21162289 [GRCh38]
Chr20:21142930 [GRCh37]
Chr20:20p11.23		 uncertain significance
NM_018474.6(KIZ):c.776G>A (p.Arg259His) single nucleotide variant not provided [RCV001301842] Chr20:21162241 [GRCh38]
Chr20:21142882 [GRCh37]
Chr20:20p11.23		 uncertain significance
NM_018474.6(KIZ):c.1783+4A>G single nucleotide variant not provided [RCV001347139] Chr20:21229119 [GRCh38]
Chr20:21209757 [GRCh37]
Chr20:20p11.23		 uncertain significance
NM_018474.6(KIZ):c.1384dup (p.Arg462fs) duplication not provided [RCV001347332] Chr20:21205521..21205522 [GRCh38]
Chr20:21186160..21186161 [GRCh37]
Chr20:20p11.23		 uncertain significance
NM_018474.6(KIZ):c.1776C>A (p.His592Gln) single nucleotide variant not provided [RCV001346220] Chr20:21229108 [GRCh38]
Chr20:21209746 [GRCh37]
Chr20:20p11.23		 uncertain significance
NM_018474.6(KIZ):c.1102G>A (p.Glu368Lys) single nucleotide variant not provided [RCV001302279] Chr20:21162909 [GRCh38]
Chr20:21143550 [GRCh37]
Chr20:20p11.23		 uncertain significance
NM_018474.6(KIZ):c.1199G>A (p.Gly400Asp) single nucleotide variant not provided [RCV001327044]|not specified [RCV004035225] Chr20:21163006 [GRCh38]
Chr20:21143647 [GRCh37]
Chr20:20p11.23		 likely benign|uncertain significance
NM_018474.6(KIZ):c.954_955delinsTT (p.Pro319Ser) indel not provided [RCV001360057] Chr20:21162419..21162420 [GRCh38]
Chr20:21143060..21143061 [GRCh37]
Chr20:20p11.23		 uncertain significance
NM_018474.6(KIZ):c.1852T>C (p.Ser618Pro) single nucleotide variant not provided [RCV001315342] Chr20:21232802 [GRCh38]
Chr20:21213440 [GRCh37]
Chr20:20p11.23		 uncertain significance
NM_018474.6(KIZ):c.489A>C (p.Gln163His) single nucleotide variant not provided [RCV001324427] Chr20:21161954 [GRCh38]
Chr20:21142595 [GRCh37]
Chr20:20p11.23		 uncertain significance
NM_018474.6(KIZ):c.581A>G (p.His194Arg) single nucleotide variant not provided [RCV001298946] Chr20:21162046 [GRCh38]
Chr20:21142687 [GRCh37]
Chr20:20p11.23		 uncertain significance
NM_018474.6(KIZ):c.1180C>T (p.Pro394Ser) single nucleotide variant not provided [RCV001301257] Chr20:21162987 [GRCh38]
Chr20:21143628 [GRCh37]
Chr20:20p11.23		 uncertain significance
NM_018474.6(KIZ):c.484C>T (p.Arg162Cys) single nucleotide variant not provided [RCV001351755] Chr20:21161949 [GRCh38]
Chr20:21142590 [GRCh37]
Chr20:20p11.23		 uncertain significance
NM_018474.6(KIZ):c.1640G>A (p.Ser547Asn) single nucleotide variant not provided [RCV001315452] Chr20:21215610 [GRCh38]
Chr20:21196248 [GRCh37]
Chr20:20p11.23		 uncertain significance
NM_018474.6(KIZ):c.110T>C (p.Leu37Pro) single nucleotide variant not provided [RCV001306917] Chr20:21132117 [GRCh38]
Chr20:21112758 [GRCh37]
Chr20:20p11.23		 uncertain significance
NM_018474.6(KIZ):c.779A>G (p.His260Arg) single nucleotide variant not provided [RCV001297453] Chr20:21162244 [GRCh38]
Chr20:21142885 [GRCh37]
Chr20:20p11.23		 uncertain significance
NM_018474.6(KIZ):c.36G>C (p.Ser12=) single nucleotide variant not provided [RCV001366481] Chr20:21126151 [GRCh38]
Chr20:21106792 [GRCh37]
Chr20:20p11.23		 likely benign|uncertain significance
NM_018474.6(KIZ):c.1745G>A (p.Arg582Lys) single nucleotide variant not provided [RCV001366841] Chr20:21229077 [GRCh38]
Chr20:21209715 [GRCh37]
Chr20:20p11.23		 uncertain significance
NM_018474.6(KIZ):c.1903G>A (p.Val635Met) single nucleotide variant not provided [RCV001366895] Chr20:21244267 [GRCh38]
Chr20:21224905 [GRCh37]
Chr20:20p11.23		 uncertain significance
NM_018474.6(KIZ):c.90-3T>C single nucleotide variant not provided [RCV001309575] Chr20:21132094 [GRCh38]
Chr20:21112735 [GRCh37]
Chr20:20p11.23		 uncertain significance
NM_018474.6(KIZ):c.1534T>A (p.Ser512Thr) single nucleotide variant not provided [RCV001352480] Chr20:21214622 [GRCh38]
Chr20:21195260 [GRCh37]
Chr20:20p11.23		 uncertain significance
NM_018474.6(KIZ):c.1902C>T (p.Pro634=) single nucleotide variant not provided [RCV001395835] Chr20:21244266 [GRCh38]
Chr20:21224904 [GRCh37]
Chr20:20p11.23		 likely benign
NM_018474.6(KIZ):c.1151A>T (p.Glu384Val) single nucleotide variant not provided [RCV001365584] Chr20:21162958 [GRCh38]
Chr20:21143599 [GRCh37]
Chr20:20p11.23		 uncertain significance
NM_018474.6(KIZ):c.695T>C (p.Ile232Thr) single nucleotide variant not provided [RCV001369472]|not specified [RCV004037080] Chr20:21162160 [GRCh38]
Chr20:21142801 [GRCh37]
Chr20:20p11.23		 uncertain significance
NM_018474.6(KIZ):c.932_934del (p.Val311del) deletion not provided [RCV001365887] Chr20:21162396..21162398 [GRCh38]
Chr20:21143037..21143039 [GRCh37]
Chr20:20p11.23		 uncertain significance
NM_018474.6(KIZ):c.1368A>G (p.Pro456=) single nucleotide variant not provided [RCV001481381] Chr20:21205506 [GRCh38]
Chr20:21186145 [GRCh37]
Chr20:20p11.23		 likely benign
NM_018474.6(KIZ):c.1783+18G>A single nucleotide variant not provided [RCV001486964] Chr20:21229133 [GRCh38]
Chr20:21209771 [GRCh37]
Chr20:20p11.23		 likely benign
NM_018474.6(KIZ):c.142G>C (p.Asp48His) single nucleotide variant KIZ-related disorder [RCV004756250]|not provided [RCV001466700] Chr20:21132149 [GRCh38]
Chr20:21112790 [GRCh37]
Chr20:20p11.23		 likely benign
NM_018474.6(KIZ):c.1209G>A (p.Glu403=) single nucleotide variant not provided [RCV001481712] Chr20:21163016 [GRCh38]
Chr20:21143657 [GRCh37]
Chr20:20p11.23		 likely benign
NM_018474.6(KIZ):c.1925-4C>T single nucleotide variant not provided [RCV001495969] Chr20:21246475 [GRCh38]
Chr20:21227113 [GRCh37]
Chr20:20p11.23		 likely benign
NM_018474.6(KIZ):c.1283del (p.Asn428fs) deletion not provided [RCV001387669] Chr20:21163084 [GRCh38]
Chr20:21143725 [GRCh37]
Chr20:20p11.23		 pathogenic
NM_018474.6(KIZ):c.1383G>A (p.Pro461=) single nucleotide variant KIZ-related disorder [RCV003966090]|not provided [RCV001515257] Chr20:21205521 [GRCh38]
Chr20:21186160 [GRCh37]
Chr20:20p11.23		 benign
NM_018474.6(KIZ):c.318C>T (p.Leu106=) single nucleotide variant Retinal dystrophy [RCV003888214]|not provided [RCV001486674] Chr20:21145567 [GRCh38]
Chr20:21126208 [GRCh37]
Chr20:20p11.23		 likely benign|uncertain significance
NM_018474.6(KIZ):c.357del (p.Asp120fs) deletion not provided [RCV001383474] Chr20:21145603 [GRCh38]
Chr20:21126244 [GRCh37]
Chr20:20p11.23		 pathogenic
NM_018474.6(KIZ):c.1378G>A (p.Val460Ile) single nucleotide variant not provided [RCV001521562] Chr20:21205516 [GRCh38]
Chr20:21186155 [GRCh37]
Chr20:20p11.23		 benign
NM_018474.6(KIZ):c.152+10G>A single nucleotide variant KIZ-related disorder [RCV003921037]|not provided [RCV001493076] Chr20:21132169 [GRCh38]
Chr20:21112810 [GRCh37]
Chr20:20p11.23		 likely benign
NM_018474.6(KIZ):c.1959A>G (p.Glu653=) single nucleotide variant not provided [RCV001393370] Chr20:21246513 [GRCh38]
Chr20:21227151 [GRCh37]
Chr20:20p11.23		 likely benign
NM_018474.6(KIZ):c.1857T>C (p.Ser619=) single nucleotide variant not provided [RCV001419592] Chr20:21232807 [GRCh38]
Chr20:21213445 [GRCh37]
Chr20:20p11.23		 likely benign
NM_018474.6(KIZ):c.1590C>T (p.Asn530=) single nucleotide variant not provided [RCV001448597] Chr20:21214678 [GRCh38]
Chr20:21195316 [GRCh37]
Chr20:20p11.23		 likely benign
NM_018474.6(KIZ):c.606T>C (p.Asn202=) single nucleotide variant not provided [RCV001412051] Chr20:21162071 [GRCh38]
Chr20:21142712 [GRCh37]
Chr20:20p11.23		 likely benign
NM_018474.6(KIZ):c.726A>G (p.Val242=) single nucleotide variant not provided [RCV001428487] Chr20:21162191 [GRCh38]
Chr20:21142832 [GRCh37]
Chr20:20p11.23		 likely benign
NM_018474.6(KIZ):c.1998T>C (p.Asp666=) single nucleotide variant not provided [RCV001419062] Chr20:21246552 [GRCh38]
Chr20:21227190 [GRCh37]
Chr20:20p11.23		 likely benign
NM_018474.6(KIZ):c.426T>C (p.Ile142=) single nucleotide variant not provided [RCV001403588] Chr20:21161891 [GRCh38]
Chr20:21142532 [GRCh37]
Chr20:20p11.23		 likely benign
NM_018474.6(KIZ):c.1338C>T (p.Asn446=) single nucleotide variant not provided [RCV001438894] Chr20:21163145 [GRCh38]
Chr20:21143786 [GRCh37]
Chr20:20p11.23		 likely benign
NM_018474.6(KIZ):c.954G>A (p.Pro318=) single nucleotide variant KIZ-related disorder [RCV003946082]|not provided [RCV001411277] Chr20:21162419 [GRCh38]
Chr20:21143060 [GRCh37]
Chr20:20p11.23		 likely benign
NM_018474.6(KIZ):c.1446+7A>G single nucleotide variant not provided [RCV001424490] Chr20:21205591 [GRCh38]
Chr20:21186229 [GRCh37]
Chr20:20p11.23		 likely benign
NM_018474.6(KIZ):c.892G>A (p.Gly298Arg) single nucleotide variant KIZ-related disorder [RCV003966053]|Retinal dystrophy [RCV003888238]|not provided [RCV001510033] Chr20:21162357 [GRCh38]
Chr20:21142998 [GRCh37]
Chr20:20p11.23		 benign|likely benign
NM_018474.6(KIZ):c.1773A>G (p.Ser591=) single nucleotide variant not provided [RCV001458918] Chr20:21229105 [GRCh38]
Chr20:21209743 [GRCh37]
Chr20:20p11.23		 likely benign
NM_018474.6(KIZ):c.108C>T (p.Asp36=) single nucleotide variant not provided [RCV001486903] Chr20:21132115 [GRCh38]
Chr20:21112756 [GRCh37]
Chr20:20p11.23		 likely benign
NM_018474.6(KIZ):c.543G>A (p.Gln181=) single nucleotide variant not provided [RCV001487385] Chr20:21162008 [GRCh38]
Chr20:21142649 [GRCh37]
Chr20:20p11.23		 likely benign
NM_018474.6(KIZ):c.316-12C>G single nucleotide variant not provided [RCV001511937] Chr20:21145553 [GRCh38]
Chr20:21126194 [GRCh37]
Chr20:20p11.23		 benign
NM_018474.6(KIZ):c.707T>C (p.Met236Thr) single nucleotide variant Retinal dystrophy [RCV003888249]|not provided [RCV001512890] Chr20:21162172 [GRCh38]
Chr20:21142813 [GRCh37]
Chr20:20p11.23		 benign
NM_018474.6(KIZ):c.1387dup (p.Ala463fs) duplication Retinal dystrophy [RCV003888250]|not provided [RCV001512891] Chr20:21205522..21205523 [GRCh38]
Chr20:21186161..21186162 [GRCh37]
Chr20:20p11.23		 benign|uncertain significance
NM_018474.6(KIZ):c.1995C>T (p.Thr665=) single nucleotide variant not provided [RCV001470855] Chr20:21246549 [GRCh38]
Chr20:21227187 [GRCh37]
Chr20:20p11.23		 likely benign
NM_018474.6(KIZ):c.1784-11G>A single nucleotide variant not provided [RCV001513363] Chr20:21232723 [GRCh38]
Chr20:21213361 [GRCh37]
Chr20:20p11.23		 benign
NM_018474.6(KIZ):c.417C>T (p.His139=) single nucleotide variant KIZ-related disorder [RCV003955956]|not provided [RCV001439355] Chr20:21161882 [GRCh38]
Chr20:21142523 [GRCh37]
Chr20:20p11.23		 likely benign
NM_018474.6(KIZ):c.595C>T (p.Gln199Ter) single nucleotide variant not provided [RCV001390856] Chr20:21162060 [GRCh38]
Chr20:21142701 [GRCh37]
Chr20:20p11.23		 pathogenic
NM_018474.6(KIZ):c.1701G>A (p.Leu567=) single nucleotide variant not provided [RCV001475986] Chr20:21229033 [GRCh38]
Chr20:21209671 [GRCh37]
Chr20:20p11.23		 likely benign
NM_018474.6(KIZ):c.1635C>T (p.Asp545=) single nucleotide variant not provided [RCV001481693] Chr20:21215605 [GRCh38]
Chr20:21196243 [GRCh37]
Chr20:20p11.23		 likely benign
NM_018474.6(KIZ):c.1043-4G>A single nucleotide variant KIZ-related disorder [RCV003955959]|not provided [RCV001440191] Chr20:21162846 [GRCh38]
Chr20:21143487 [GRCh37]
Chr20:20p11.23		 likely benign
NM_018474.6(KIZ):c.1024C>G (p.Pro342Ala) single nucleotide variant Retinitis pigmentosa 69 [RCV002501796]|not provided [RCV001516927] Chr20:21162489 [GRCh38]
Chr20:21143130 [GRCh37]
Chr20:20p11.23		 benign|likely benign
NM_018474.6(KIZ):c.417C>G (p.His139Gln) single nucleotide variant Retinal dystrophy [RCV003888248]|not provided [RCV001512889] Chr20:21161882 [GRCh38]
Chr20:21142523 [GRCh37]
Chr20:20p11.23		 benign
NM_018474.6(KIZ):c.914C>A (p.Thr305Lys) single nucleotide variant KIZ-related disorder [RCV003940920]|not provided [RCV001514953] Chr20:21162379 [GRCh38]
Chr20:21143020 [GRCh37]
Chr20:20p11.23		 benign
NM_018474.6(KIZ):c.1447-2A>G single nucleotide variant not provided [RCV001376772] Chr20:21214533 [GRCh38]
Chr20:21195171 [GRCh37]
Chr20:20p11.23		 likely pathogenic
NM_018474.6(KIZ):c.1331C>G (p.Ser444Cys) single nucleotide variant KIZ-related disorder [RCV003908810]|Retinitis pigmentosa 69 [RCV002501762]|not provided [RCV001511837] Chr20:21163138 [GRCh38]
Chr20:21143779 [GRCh37]
Chr20:20p11.23		 benign|likely benign
NM_018474.6(KIZ):c.1455A>T (p.Ala485=) single nucleotide variant not provided [RCV001498188] Chr20:21214543 [GRCh38]
Chr20:21195181 [GRCh37]
Chr20:20p11.23		 likely benign
NM_018474.6(KIZ):c.50dup (p.Tyr17Ter) duplication not provided [RCV001385788] Chr20:21126164..21126165 [GRCh38]
Chr20:21106805..21106806 [GRCh37]
Chr20:20p11.23		 pathogenic
NM_018474.6(KIZ):c.954G>T (p.Pro318=) single nucleotide variant not provided [RCV001400877] Chr20:21162419 [GRCh38]
Chr20:21143060 [GRCh37]
Chr20:20p11.23		 likely benign
NM_018474.6(KIZ):c.891C>T (p.Ser297=) single nucleotide variant not provided [RCV001402577] Chr20:21162356 [GRCh38]
Chr20:21142997 [GRCh37]
Chr20:20p11.23		 likely benign
NM_018474.6(KIZ):c.1422A>G (p.Glu474=) single nucleotide variant not provided [RCV001450455] Chr20:21205560 [GRCh38]
Chr20:21186198 [GRCh37]
Chr20:20p11.23		 likely benign
NM_018474.6(KIZ):c.348A>T (p.Leu116=) single nucleotide variant not provided [RCV001425066] Chr20:21145597 [GRCh38]
Chr20:21126238 [GRCh37]
Chr20:20p11.23		 likely benign
NM_018474.6(KIZ):c.405+1dup duplication not provided [RCV003109171] Chr20:21145653..21145654 [GRCh38]
Chr20:21126294..21126295 [GRCh37]
Chr20:20p11.23		 pathogenic
NM_018474.6(KIZ):c.716C>T (p.Thr239Ile) single nucleotide variant not provided [RCV001874117] Chr20:21162181 [GRCh38]
Chr20:21142822 [GRCh37]
Chr20:20p11.23		 uncertain significance
NM_018474.6(KIZ):c.1810G>A (p.Glu604Lys) single nucleotide variant not provided [RCV001896024] Chr20:21232760 [GRCh38]
Chr20:21213398 [GRCh37]
Chr20:20p11.23		 uncertain significance
NM_018474.6(KIZ):c.178A>G (p.Lys60Glu) single nucleotide variant not provided [RCV001863782] Chr20:21136415 [GRCh38]
Chr20:21117056 [GRCh37]
Chr20:20p11.23		 uncertain significance
NM_018474.6(KIZ):c.1468G>T (p.Ala490Ser) single nucleotide variant not provided [RCV001896040] Chr20:21214556 [GRCh38]
Chr20:21195194 [GRCh37]
Chr20:20p11.23		 uncertain significance
NM_018474.6(KIZ):c.1516T>C (p.Ser506Pro) single nucleotide variant not provided [RCV002042063] Chr20:21214604 [GRCh38]
Chr20:21195242 [GRCh37]
Chr20:20p11.23		 uncertain significance
NM_018474.6(KIZ):c.1760A>T (p.Asp587Val) single nucleotide variant not provided [RCV001926324] Chr20:21229092 [GRCh38]
Chr20:21209730 [GRCh37]
Chr20:20p11.23		 uncertain significance
NM_018474.6(KIZ):c.383T>G (p.Leu128Arg) single nucleotide variant Retinal dystrophy [RCV003888921]|not provided [RCV001929041] Chr20:21145632 [GRCh38]
Chr20:21126273 [GRCh37]
Chr20:20p11.23		 uncertain significance
NM_018474.6(KIZ):c.1875G>T (p.Leu625Phe) single nucleotide variant not provided [RCV001895969] Chr20:21232825 [GRCh38]
Chr20:21213463 [GRCh37]
Chr20:20p11.23		 uncertain significance
NM_018474.6(KIZ):c.1489C>T (p.Arg497Cys) single nucleotide variant not provided [RCV002045091] Chr20:21214577 [GRCh38]
Chr20:21195215 [GRCh37]
Chr20:20p11.23		 uncertain significance
NM_018474.6(KIZ):c.253G>C (p.Glu85Gln) single nucleotide variant not provided [RCV002041903] Chr20:21136490 [GRCh38]
Chr20:21117131 [GRCh37]
Chr20:20p11.23		 uncertain significance
NM_018474.6(KIZ):c.1759G>A (p.Asp587Asn) single nucleotide variant not provided [RCV002002252] Chr20:21229091 [GRCh38]
Chr20:21209729 [GRCh37]
Chr20:20p11.23		 uncertain significance
NM_018474.6(KIZ):c.1025C>T (p.Pro342Leu) single nucleotide variant not provided [RCV001909089] Chr20:21162490 [GRCh38]
Chr20:21143131 [GRCh37]
Chr20:20p11.23		 uncertain significance
NM_018474.6(KIZ):c.863C>T (p.Thr288Ile) single nucleotide variant not provided [RCV001893846] Chr20:21162328 [GRCh38]
Chr20:21142969 [GRCh37]
Chr20:20p11.23		 uncertain significance
NM_018474.6(KIZ):c.925A>G (p.Ile309Val) single nucleotide variant not provided [RCV001946480]|not specified [RCV004042970] Chr20:21162390 [GRCh38]
Chr20:21143031 [GRCh37]
Chr20:20p11.23		 uncertain significance
NM_018474.6(KIZ):c.1149T>G (p.Ser383Arg) single nucleotide variant not provided [RCV002007810] Chr20:21162956 [GRCh38]
Chr20:21143597 [GRCh37]
Chr20:20p11.23		 uncertain significance
NM_018474.6(KIZ):c.1547A>G (p.Asp516Gly) single nucleotide variant not provided [RCV001970471] Chr20:21214635 [GRCh38]
Chr20:21195273 [GRCh37]
Chr20:20p11.23		 uncertain significance
NM_018474.6(KIZ):c.914C>T (p.Thr305Ile) single nucleotide variant not provided [RCV001987263]|not specified [RCV004042952] Chr20:21162379 [GRCh38]
Chr20:21143020 [GRCh37]
Chr20:20p11.23		 uncertain significance
GRCh37/hg19 20p11.23-11.22(chr20:19292925-22187397) copy number loss not specified [RCV002052705] Chr20:19292925..22187397 [GRCh37]
Chr20:20p11.23-11.22		 pathogenic
NM_018474.6(KIZ):c.199T>G (p.Cys67Gly) single nucleotide variant not provided [RCV001908676] Chr20:21136436 [GRCh38]
Chr20:21117077 [GRCh37]
Chr20:20p11.23		 uncertain significance
GRCh37/hg19 20p11.23-11.22(chr20:21098319-21512672)x3 copy number gain not provided [RCV001836573] Chr20:21098319..21512672 [GRCh37]
Chr20:20p11.23-11.22		 uncertain significance
NM_018474.6(KIZ):c.13C>T (p.Leu5Phe) single nucleotide variant not provided [RCV001894428]|not specified [RCV004039687] Chr20:21126128 [GRCh38]
Chr20:21106769 [GRCh37]
Chr20:20p11.23		 uncertain significance
NM_018474.6(KIZ):c.886T>C (p.Ser296Pro) single nucleotide variant not provided [RCV001891139] Chr20:21162351 [GRCh38]
Chr20:21142992 [GRCh37]
Chr20:20p11.23		 uncertain significance
NM_018474.6(KIZ):c.1501A>G (p.Ile501Val) single nucleotide variant not provided [RCV001986648] Chr20:21214589 [GRCh38]
Chr20:21195227 [GRCh37]
Chr20:20p11.23		 uncertain significance
NM_018474.6(KIZ):c.1625G>T (p.Gly542Val) single nucleotide variant not provided [RCV001908432] Chr20:21215595 [GRCh38]
Chr20:21196233 [GRCh37]
Chr20:20p11.23		 uncertain significance
NM_018474.6(KIZ):c.1966G>T (p.Ala656Ser) single nucleotide variant not provided [RCV001926457] Chr20:21246520 [GRCh38]
Chr20:21227158 [GRCh37]
Chr20:20p11.23		 uncertain significance
GRCh37/hg19 20p11.23-q11.22(chr20:18665879-33903216)x3 copy number gain not provided [RCV001829151] Chr20:18665879..33903216 [GRCh37]
Chr20:20p11.23-q11.22		 likely pathogenic
NM_018474.6(KIZ):c.1354C>G (p.Pro452Ala) single nucleotide variant not provided [RCV001887170] Chr20:21205492 [GRCh38]
Chr20:21186131 [GRCh37]
Chr20:20p11.23		 uncertain significance
NM_018474.6(KIZ):c.1588A>G (p.Asn530Asp) single nucleotide variant not provided [RCV001888447] Chr20:21214676 [GRCh38]
Chr20:21195314 [GRCh37]
Chr20:20p11.23		 uncertain significance
NM_018474.6(KIZ):c.1309C>T (p.Pro437Ser) single nucleotide variant not provided [RCV001979972] Chr20:21163116 [GRCh38]
Chr20:21143757 [GRCh37]
Chr20:20p11.23		 uncertain significance
NM_018474.6(KIZ):c.1409C>T (p.Ala470Val) single nucleotide variant not provided [RCV001960945] Chr20:21205547 [GRCh38]
Chr20:21186185 [GRCh37]
Chr20:20p11.23		 uncertain significance
NM_018474.6(KIZ):c.581_605del (p.His194fs) deletion not provided [RCV001887741] Chr20:21162046..21162070 [GRCh38]
Chr20:21142687..21142711 [GRCh37]
Chr20:20p11.23		 pathogenic
NM_018474.6(KIZ):c.1463G>A (p.Arg488Lys) single nucleotide variant not provided [RCV002001243] Chr20:21214551 [GRCh38]
Chr20:21195189 [GRCh37]
Chr20:20p11.23		 uncertain significance
NM_018474.6(KIZ):c.668_684del (p.Asn223fs) deletion not provided [RCV001944821] Chr20:21162131..21162147 [GRCh38]
Chr20:21142772..21142788 [GRCh37]
Chr20:20p11.23		 pathogenic
NC_000020.10:g.(?_21195153)_(21227214_?)del deletion not provided [RCV001943137] Chr20:21195153..21227214 [GRCh37]
Chr20:20p11.23		 uncertain significance
NM_018474.6(KIZ):c.1988A>G (p.His663Arg) single nucleotide variant not provided [RCV001944078] Chr20:21246542 [GRCh38]
Chr20:21227180 [GRCh37]
Chr20:20p11.23		 uncertain significance
NM_018474.6(KIZ):c.531C>G (p.His177Gln) single nucleotide variant not provided [RCV001940593] Chr20:21161996 [GRCh38]
Chr20:21142637 [GRCh37]
Chr20:20p11.23		 uncertain significance
NM_018474.6(KIZ):c.709C>A (p.Pro237Thr) single nucleotide variant not provided [RCV001963444] Chr20:21162174 [GRCh38]
Chr20:21142815 [GRCh37]
Chr20:20p11.23		 uncertain significance
NM_018474.6(KIZ):c.1286G>T (p.Cys429Phe) single nucleotide variant not provided [RCV001961428] Chr20:21163093 [GRCh38]
Chr20:21143734 [GRCh37]
Chr20:20p11.23		 uncertain significance
NM_018474.6(KIZ):c.1579G>A (p.Val527Ile) single nucleotide variant not provided [RCV002037095] Chr20:21214667 [GRCh38]
Chr20:21195305 [GRCh37]
Chr20:20p11.23		 uncertain significance
NM_018474.6(KIZ):c.1046A>G (p.His349Arg) single nucleotide variant not provided [RCV002039150] Chr20:21162853 [GRCh38]
Chr20:21143494 [GRCh37]
Chr20:20p11.23		 uncertain significance
NM_018474.6(KIZ):c.1838C>T (p.Ser613Leu) single nucleotide variant not provided [RCV001962272] Chr20:21232788 [GRCh38]
Chr20:21213426 [GRCh37]
Chr20:20p11.23		 uncertain significance
NM_018474.6(KIZ):c.490del (p.Met164fs) deletion not provided [RCV001975010] Chr20:21161953 [GRCh38]
Chr20:21142594 [GRCh37]
Chr20:20p11.23		 pathogenic
NM_018474.6(KIZ):c.990A>C (p.Glu330Asp) single nucleotide variant not provided [RCV001962326] Chr20:21162455 [GRCh38]
Chr20:21143096 [GRCh37]
Chr20:20p11.23		 uncertain significance
NM_018474.6(KIZ):c.412G>A (p.Val138Met) single nucleotide variant not provided [RCV002036956] Chr20:21161877 [GRCh38]
Chr20:21142518 [GRCh37]
Chr20:20p11.23		 uncertain significance
NM_018474.6(KIZ):c.1621A>G (p.Ser541Gly) single nucleotide variant not provided [RCV001943777] Chr20:21215591 [GRCh38]
Chr20:21196229 [GRCh37]
Chr20:20p11.23		 uncertain significance
NM_018474.6(KIZ):c.1192C>A (p.Pro398Thr) single nucleotide variant not provided [RCV002046599] Chr20:21162999 [GRCh38]
Chr20:21143640 [GRCh37]
Chr20:20p11.23		 uncertain significance
NM_018474.6(KIZ):c.64C>T (p.Gln22Ter) single nucleotide variant not provided [RCV001979101] Chr20:21126179 [GRCh38]
Chr20:21106820 [GRCh37]
Chr20:20p11.23		 pathogenic
NM_018474.6(KIZ):c.274G>C (p.Val92Leu) single nucleotide variant not provided [RCV002026723] Chr20:21136511 [GRCh38]
Chr20:21117152 [GRCh37]
Chr20:20p11.23		 uncertain significance
NM_018474.6(KIZ):c.473T>C (p.Ile158Thr) single nucleotide variant not provided [RCV001937099] Chr20:21161938 [GRCh38]
Chr20:21142579 [GRCh37]
Chr20:20p11.23		 uncertain significance
NM_018474.6(KIZ):c.419A>C (p.Glu140Ala) single nucleotide variant not provided [RCV001956694] Chr20:21161884 [GRCh38]
Chr20:21142525 [GRCh37]
Chr20:20p11.23		 uncertain significance
NM_018474.6(KIZ):c.1514A>T (p.Glu505Val) single nucleotide variant not provided [RCV001897357] Chr20:21214602 [GRCh38]
Chr20:21195240 [GRCh37]
Chr20:20p11.23		 uncertain significance
NM_018474.6(KIZ):c.1628G>A (p.Cys543Tyr) single nucleotide variant not provided [RCV001973764] Chr20:21215598 [GRCh38]
Chr20:21196236 [GRCh37]
Chr20:20p11.23		 uncertain significance
NM_018474.6(KIZ):c.555C>G (p.Asn185Lys) single nucleotide variant not provided [RCV002046522] Chr20:21162020 [GRCh38]
Chr20:21142661 [GRCh37]
Chr20:20p11.23		 uncertain significance
NM_018474.6(KIZ):c.1642A>G (p.Lys548Glu) single nucleotide variant not provided [RCV001957529] Chr20:21215612 [GRCh38]
Chr20:21196250 [GRCh37]
Chr20:20p11.23		 uncertain significance
NM_018474.6(KIZ):c.1860T>A (p.Ser620Arg) single nucleotide variant not provided [RCV001885684] Chr20:21232810 [GRCh38]
Chr20:21213448 [GRCh37]
Chr20:20p11.23		 uncertain significance
NM_018474.6(KIZ):c.1859G>A (p.Ser620Asn) single nucleotide variant not provided [RCV002049311] Chr20:21232809 [GRCh38]
Chr20:21213447 [GRCh37]
Chr20:20p11.23		 uncertain significance
NM_018474.6(KIZ):c.345G>A (p.Met115Ile) single nucleotide variant not provided [RCV002049358] Chr20:21145594 [GRCh38]
Chr20:21126235 [GRCh37]
Chr20:20p11.23		 uncertain significance
NM_018474.6(KIZ):c.1678+5A>G single nucleotide variant not provided [RCV002017668] Chr20:21215653 [GRCh38]
Chr20:21196291 [GRCh37]
Chr20:20p11.23		 uncertain significance
NM_018474.6(KIZ):c.131A>G (p.Tyr44Cys) single nucleotide variant not provided [RCV002048192] Chr20:21132138 [GRCh38]
Chr20:21112779 [GRCh37]
Chr20:20p11.23		 uncertain significance
NM_018474.6(KIZ):c.221A>G (p.His74Arg) single nucleotide variant not provided [RCV001931513] Chr20:21136458 [GRCh38]
Chr20:21117099 [GRCh37]
Chr20:20p11.23		 uncertain significance
NC_000020.10:g.(?_21126186)_(21126315_?)del deletion not provided [RCV001992712] Chr20:21126186..21126315 [GRCh37]
Chr20:20p11.23		 uncertain significance
NM_018474.6(KIZ):c.1121C>G (p.Thr374Ser) single nucleotide variant not provided [RCV001879308] Chr20:21162928 [GRCh38]
Chr20:21143569 [GRCh37]
Chr20:20p11.23		 uncertain significance
NM_018474.6(KIZ):c.1708G>A (p.Ala570Thr) single nucleotide variant not provided [RCV002032333] Chr20:21229040 [GRCh38]
Chr20:21209678 [GRCh37]
Chr20:20p11.23		 uncertain significance
NM_018474.6(KIZ):c.977C>T (p.Ser326Leu) single nucleotide variant not provided [RCV001990833] Chr20:21162442 [GRCh38]
Chr20:21143083 [GRCh37]
Chr20:20p11.23		 uncertain significance
NM_018474.6(KIZ):c.3G>A (p.Met1Ile) single nucleotide variant not provided [RCV001917645] Chr20:21126118 [GRCh38]
Chr20:21106759 [GRCh37]
Chr20:20p11.23		 conflicting interpretations of pathogenicity|uncertain significance
NM_018474.6(KIZ):c.1510A>G (p.Ser504Gly) single nucleotide variant not provided [RCV001904486] Chr20:21214598 [GRCh38]
Chr20:21195236 [GRCh37]
Chr20:20p11.23		 uncertain significance
NM_018474.6(KIZ):c.1138A>G (p.Ile380Val) single nucleotide variant not provided [RCV001980640] Chr20:21162945 [GRCh38]
Chr20:21143586 [GRCh37]
Chr20:20p11.23		 uncertain significance
NM_018474.6(KIZ):c.1016A>G (p.Lys339Arg) single nucleotide variant not provided [RCV002018840] Chr20:21162481 [GRCh38]
Chr20:21143122 [GRCh37]
Chr20:20p11.23		 uncertain significance
NM_018474.6(KIZ):c.1664A>G (p.Asp555Gly) single nucleotide variant not provided [RCV001905674] Chr20:21215634 [GRCh38]
Chr20:21196272 [GRCh37]
Chr20:20p11.23		 uncertain significance
NM_018474.6(KIZ):c.1949G>C (p.Ser650Thr) single nucleotide variant not provided [RCV001907214] Chr20:21246503 [GRCh38]
Chr20:21227141 [GRCh37]
Chr20:20p11.23		 uncertain significance
NM_018474.6(KIZ):c.1768G>A (p.Val590Met) single nucleotide variant not provided [RCV001980780] Chr20:21229100 [GRCh38]
Chr20:21209738 [GRCh37]
Chr20:20p11.23		 uncertain significance
NM_018474.6(KIZ):c.1613-8A>G single nucleotide variant not provided [RCV001990840] Chr20:21215575 [GRCh38]
Chr20:21196213 [GRCh37]
Chr20:20p11.23		 uncertain significance
NM_018474.6(KIZ):c.315+5C>A single nucleotide variant not provided [RCV001878061] Chr20:21136557 [GRCh38]
Chr20:21117198 [GRCh37]
Chr20:20p11.23		 uncertain significance
NM_018474.6(KIZ):c.1079C>T (p.Pro360Leu) single nucleotide variant not provided [RCV001990073] Chr20:21162886 [GRCh38]
Chr20:21143527 [GRCh37]
Chr20:20p11.23		 uncertain significance
NM_018474.6(KIZ):c.116A>G (p.Lys39Arg) single nucleotide variant not provided [RCV002030667] Chr20:21132123 [GRCh38]
Chr20:21112764 [GRCh37]
Chr20:20p11.23		 uncertain significance
NM_018474.6(KIZ):c.809del (p.Lys270fs) deletion not provided [RCV001956466] Chr20:21162270 [GRCh38]
Chr20:21142911 [GRCh37]
Chr20:20p11.23		 pathogenic
NM_018474.6(KIZ):c.1187C>A (p.Pro396Gln) single nucleotide variant not provided [RCV001979274] Chr20:21162994 [GRCh38]
Chr20:21143635 [GRCh37]
Chr20:20p11.23		 uncertain significance
NM_018474.6(KIZ):c.284C>T (p.Thr95Ile) single nucleotide variant Retinitis pigmentosa 69 [RCV002492225]|not provided [RCV001993983] Chr20:21136521 [GRCh38]
Chr20:21117162 [GRCh37]
Chr20:20p11.23		 uncertain significance
NM_018474.6(KIZ):c.7C>T (p.Arg3Trp) single nucleotide variant not provided [RCV001934584] Chr20:21126122 [GRCh38]
Chr20:21106763 [GRCh37]
Chr20:20p11.23		 uncertain significance
NM_018474.6(KIZ):c.1387_1388insA (p.Ala463fs) insertion not provided [RCV001880691] Chr20:21205525..21205526 [GRCh38]
Chr20:21186163..21186164 [GRCh37]
Chr20:20p11.23		 uncertain significance
NM_018474.6(KIZ):c.93A>G (p.Glu31=) single nucleotide variant not provided [RCV002071687] Chr20:21132100 [GRCh38]
Chr20:21112741 [GRCh37]
Chr20:20p11.23		 likely benign
NM_018474.6(KIZ):c.1924+16G>A single nucleotide variant not provided [RCV002129306] Chr20:21244304 [GRCh38]
Chr20:21224942 [GRCh37]
Chr20:20p11.23		 likely benign
NM_018474.6(KIZ):c.1352+13A>T single nucleotide variant not provided [RCV002106731] Chr20:21163172 [GRCh38]
Chr20:21143813 [GRCh37]
Chr20:20p11.23		 likely benign
NM_018474.6(KIZ):c.1042+15T>C single nucleotide variant not provided [RCV002205469] Chr20:21162522 [GRCh38]
Chr20:21143163 [GRCh37]
Chr20:20p11.23		 likely benign
NM_018474.6(KIZ):c.405+19A>G single nucleotide variant not provided [RCV002107166] Chr20:21145673 [GRCh38]
Chr20:21126314 [GRCh37]
Chr20:20p11.23		 likely benign
NM_018474.6(KIZ):c.618C>T (p.Ser206=) single nucleotide variant not provided [RCV002128054] Chr20:21162083 [GRCh38]
Chr20:21142724 [GRCh37]
Chr20:20p11.23		 likely benign
NM_018474.6(KIZ):c.90-16A>C single nucleotide variant not provided [RCV002150331] Chr20:21132081 [GRCh38]
Chr20:21112722 [GRCh37]
Chr20:20p11.23		 likely benign
NM_018474.6(KIZ):c.1662A>G (p.Ala554=) single nucleotide variant not provided [RCV002076686] Chr20:21215632 [GRCh38]
Chr20:21196270 [GRCh37]
Chr20:20p11.23		 likely benign
NM_018474.6(KIZ):c.1679-18T>C single nucleotide variant not provided [RCV002193693] Chr20:21228993 [GRCh38]
Chr20:21209631 [GRCh37]
Chr20:20p11.23		 likely benign
NM_018474.6(KIZ):c.90-14G>A single nucleotide variant not provided [RCV002095840] Chr20:21132083 [GRCh38]
Chr20:21112724 [GRCh37]
Chr20:20p11.23		 likely benign
NM_018474.6(KIZ):c.1692T>C (p.Tyr564=) single nucleotide variant not provided [RCV002171363] Chr20:21229024 [GRCh38]
Chr20:21209662 [GRCh37]
Chr20:20p11.23		 likely benign
NM_018474.6(KIZ):c.897A>G (p.Ser299=) single nucleotide variant not provided [RCV002076649] Chr20:21162362 [GRCh38]
Chr20:21143003 [GRCh37]
Chr20:20p11.23		 likely benign
NM_018474.6(KIZ):c.152+18G>A single nucleotide variant not provided [RCV002174302] Chr20:21132177 [GRCh38]
Chr20:21112818 [GRCh37]
Chr20:20p11.23		 likely benign
NM_018474.6(KIZ):c.1352+23del deletion not provided [RCV002150270] Chr20:21163173 [GRCh38]
Chr20:21143814 [GRCh37]
Chr20:20p11.23		 benign
NM_018474.6(KIZ):c.1613-9A>G single nucleotide variant not provided [RCV002078701] Chr20:21215574 [GRCh38]
Chr20:21196212 [GRCh37]
Chr20:20p11.23		 likely benign
NM_018474.6(KIZ):c.30C>G (p.Pro10=) single nucleotide variant not provided [RCV002199366] Chr20:21126145 [GRCh38]
Chr20:21106786 [GRCh37]
Chr20:20p11.23		 likely benign
NM_018474.6(KIZ):c.1043-11G>T single nucleotide variant not provided [RCV002119149] Chr20:21162839 [GRCh38]
Chr20:21143480 [GRCh37]
Chr20:20p11.23		 likely benign
NM_018474.6(KIZ):c.1881-20A>T single nucleotide variant not provided [RCV002221045] Chr20:21244225 [GRCh38]
Chr20:21224863 [GRCh37]
Chr20:20p11.23		 benign
NM_018474.6(KIZ):c.405+13A>G single nucleotide variant not provided [RCV002158607] Chr20:21145667 [GRCh38]
Chr20:21126308 [GRCh37]
Chr20:20p11.23		 likely benign
NM_018474.6(KIZ):c.27G>A (p.Val9=) single nucleotide variant not provided [RCV002158998] Chr20:21126142 [GRCh38]
Chr20:21106783 [GRCh37]
Chr20:20p11.23		 likely benign
NM_018474.6(KIZ):c.1612+7A>G single nucleotide variant not provided [RCV002158898] Chr20:21214707 [GRCh38]
Chr20:21195345 [GRCh37]
Chr20:20p11.23		 likely benign
NM_018474.6(KIZ):c.153-20A>T single nucleotide variant not provided [RCV002154211] Chr20:21136370 [GRCh38]
Chr20:21117011 [GRCh37]
Chr20:20p11.23		 likely benign
NM_018474.6(KIZ):c.828C>G (p.Ser276=) single nucleotide variant not provided [RCV002137745] Chr20:21162293 [GRCh38]
Chr20:21142934 [GRCh37]
Chr20:20p11.23		 likely benign
NM_018474.6(KIZ):c.1728A>C (p.Thr576=) single nucleotide variant not provided [RCV002160558] Chr20:21229060 [GRCh38]
Chr20:21209698 [GRCh37]
Chr20:20p11.23		 likely benign
NM_018474.6(KIZ):c.933T>C (p.Val311=) single nucleotide variant not provided [RCV002163874] Chr20:21162398 [GRCh38]
Chr20:21143039 [GRCh37]
Chr20:20p11.23		 likely benign
NM_018474.6(KIZ):c.405+18T>C single nucleotide variant not provided [RCV002164103] Chr20:21145672 [GRCh38]
Chr20:21126313 [GRCh37]
Chr20:20p11.23		 likely benign
NM_018474.6(KIZ):c.315+17T>C single nucleotide variant not provided [RCV002176264] Chr20:21136569 [GRCh38]
Chr20:21117210 [GRCh37]
Chr20:20p11.23		 likely benign
NM_018474.6(KIZ):c.1784-12C>T single nucleotide variant not provided [RCV002176269] Chr20:21232722 [GRCh38]
Chr20:21213360 [GRCh37]
Chr20:20p11.23		 likely benign
NM_018474.6(KIZ):c.90-4A>G single nucleotide variant KIZ-related disorder [RCV003895833]|not provided [RCV002142289] Chr20:21132093 [GRCh38]
Chr20:21112734 [GRCh37]
Chr20:20p11.23		 likely benign
NM_018474.6(KIZ):c.24C>G (p.Ala8=) single nucleotide variant not provided [RCV002144106] Chr20:21126139 [GRCh38]
Chr20:21106780 [GRCh37]
Chr20:20p11.23		 likely benign
NM_018474.6(KIZ):c.1924+20A>G single nucleotide variant not provided [RCV002164531] Chr20:21244308 [GRCh38]
Chr20:21224946 [GRCh37]
Chr20:20p11.23		 likely benign
NM_018474.6(KIZ):c.1446+17T>C single nucleotide variant not provided [RCV002144248] Chr20:21205601 [GRCh38]
Chr20:21186239 [GRCh37]
Chr20:20p11.23		 likely benign
NM_018474.6(KIZ):c.1470C>T (p.Ala490=) single nucleotide variant not provided [RCV002176964] Chr20:21214558 [GRCh38]
Chr20:21195196 [GRCh37]
Chr20:20p11.23		 likely benign
NM_018474.6(KIZ):c.1783+16T>C single nucleotide variant not provided [RCV002204505] Chr20:21229131 [GRCh38]
Chr20:21209769 [GRCh37]
Chr20:20p11.23		 likely benign
NM_018474.6(KIZ):c.1275T>C (p.Thr425=) single nucleotide variant KIZ-related disorder [RCV003911329]|not provided [RCV002081325] Chr20:21163082 [GRCh38]
Chr20:21143723 [GRCh37]
Chr20:20p11.23		 likely benign
NM_018474.6(KIZ):c.1784-19A>G single nucleotide variant not provided [RCV002203062] Chr20:21232715 [GRCh38]
Chr20:21213353 [GRCh37]
Chr20:20p11.23		 likely benign
NM_018474.6(KIZ):c.864C>T (p.Thr288=) single nucleotide variant not provided [RCV002184355] Chr20:21162329 [GRCh38]
Chr20:21142970 [GRCh37]
Chr20:20p11.23		 likely benign
NM_018474.6(KIZ):c.1925-17C>T single nucleotide variant not provided [RCV002161284] Chr20:21246462 [GRCh38]
Chr20:21227100 [GRCh37]
Chr20:20p11.23		 likely benign
NM_018474.6(KIZ):c.405+14T>C single nucleotide variant not provided [RCV002136203] Chr20:21145668 [GRCh38]
Chr20:21126309 [GRCh37]
Chr20:20p11.23		 likely benign
NM_018474.6(KIZ):c.156T>G (p.Val52=) single nucleotide variant not provided [RCV002099028] Chr20:21136393 [GRCh38]
Chr20:21117034 [GRCh37]
Chr20:20p11.23		 likely benign
NM_018474.6(KIZ):c.852A>G (p.Pro284=) single nucleotide variant not provided [RCV002084486] Chr20:21162317 [GRCh38]
Chr20:21142958 [GRCh37]
Chr20:20p11.23		 likely benign
NM_018474.6(KIZ):c.1533A>G (p.Pro511=) single nucleotide variant not provided [RCV002158162] Chr20:21214621 [GRCh38]
Chr20:21195259 [GRCh37]
Chr20:20p11.23		 likely benign
NM_018474.6(KIZ):c.1185G>A (p.Gln395=) single nucleotide variant not provided [RCV002160322] Chr20:21162992 [GRCh38]
Chr20:21143633 [GRCh37]
Chr20:20p11.23		 likely benign
NM_018474.6(KIZ):c.1043-11G>A single nucleotide variant not provided [RCV002139963] Chr20:21162839 [GRCh38]
Chr20:21143480 [GRCh37]
Chr20:20p11.23		 likely benign
NM_018474.6(KIZ):c.723T>C (p.Ser241=) single nucleotide variant not provided [RCV002202740] Chr20:21162188 [GRCh38]
Chr20:21142829 [GRCh37]
Chr20:20p11.23		 likely benign
NC_000020.10:g.(?_21142492)_(21186242_?)del deletion not provided [RCV003119916] Chr20:21142492..21186242 [GRCh37]
Chr20:20p11.23		 uncertain significance
NM_018474.6(KIZ):c.1371C>T (p.Asp457=) single nucleotide variant not provided [RCV002293054] Chr20:21205509 [GRCh38]
Chr20:21186148 [GRCh37]
Chr20:20p11.23		 likely benign
NM_018474.6(KIZ):c.1483T>G (p.Cys495Gly) single nucleotide variant not provided [RCV002862355] Chr20:21214571 [GRCh38]
Chr20:21195209 [GRCh37]
Chr20:20p11.23		 uncertain significance
NM_018474.6(KIZ):c.259G>C (p.Val87Leu) single nucleotide variant not provided [RCV003013908] Chr20:21136496 [GRCh38]
Chr20:21117137 [GRCh37]
Chr20:20p11.23		 uncertain significance
NM_018474.6(KIZ):c.1269A>G (p.Leu423=) single nucleotide variant not provided [RCV002862315] Chr20:21163076 [GRCh38]
Chr20:21143717 [GRCh37]
Chr20:20p11.23		 likely benign|uncertain significance
NM_018474.6(KIZ):c.130T>C (p.Tyr44His) single nucleotide variant not provided [RCV003033288] Chr20:21132137 [GRCh38]
Chr20:21112778 [GRCh37]
Chr20:20p11.23		 uncertain significance
NM_018474.6(KIZ):c.1496C>T (p.Ser499Leu) single nucleotide variant not provided [RCV002861490] Chr20:21214584 [GRCh38]
Chr20:21195222 [GRCh37]
Chr20:20p11.23		 uncertain significance
NM_018474.6(KIZ):c.1223T>C (p.Ile408Thr) single nucleotide variant not specified [RCV004136311] Chr20:21163030 [GRCh38]
Chr20:21143671 [GRCh37]
Chr20:20p11.23		 uncertain significance
NM_018474.6(KIZ):c.1356T>C (p.Pro452=) single nucleotide variant not provided [RCV002837532] Chr20:21205494 [GRCh38]
Chr20:21186133 [GRCh37]
Chr20:20p11.23		 likely benign
NM_018474.6(KIZ):c.746C>A (p.Thr249Asn) single nucleotide variant not provided [RCV003014920] Chr20:21162211 [GRCh38]
Chr20:21142852 [GRCh37]
Chr20:20p11.23		 uncertain significance
NM_018474.6(KIZ):c.118A>G (p.Lys40Glu) single nucleotide variant not provided [RCV003073614] Chr20:21132125 [GRCh38]
Chr20:21112766 [GRCh37]
Chr20:20p11.23		 uncertain significance
NM_018474.6(KIZ):c.203A>G (p.Glu68Gly) single nucleotide variant not provided [RCV002904850] Chr20:21136440 [GRCh38]
Chr20:21117081 [GRCh37]
Chr20:20p11.23		 uncertain significance
NM_018474.6(KIZ):c.466G>C (p.Ala156Pro) single nucleotide variant not provided [RCV003035252]|not specified [RCV004068689] Chr20:21161931 [GRCh38]
Chr20:21142572 [GRCh37]
Chr20:20p11.23		 uncertain significance
NM_018474.6(KIZ):c.1157A>T (p.Asp386Val) single nucleotide variant not provided [RCV002842806] Chr20:21162964 [GRCh38]
Chr20:21143605 [GRCh37]
Chr20:20p11.23		 uncertain significance
NM_018474.6(KIZ):c.1880+15G>A single nucleotide variant not provided [RCV002730257] Chr20:21232845 [GRCh38]
Chr20:21213483 [GRCh37]
Chr20:20p11.23		 likely benign
NM_018474.6(KIZ):c.992C>G (p.Ser331Cys) single nucleotide variant not provided [RCV002947759] Chr20:21162457 [GRCh38]
Chr20:21143098 [GRCh37]
Chr20:20p11.23		 uncertain significance
NM_018474.6(KIZ):c.1880+13A>G single nucleotide variant not provided [RCV003034056] Chr20:21232843 [GRCh38]
Chr20:21213481 [GRCh37]
Chr20:20p11.23		 uncertain significance
NM_018474.6(KIZ):c.35C>A (p.Ser12Ter) single nucleotide variant not provided [RCV002880639] Chr20:21126150 [GRCh38]
Chr20:21106791 [GRCh37]
Chr20:20p11.23		 pathogenic
NM_018474.6(KIZ):c.1678+9A>G single nucleotide variant not provided [RCV002750457] Chr20:21215657 [GRCh38]
Chr20:21196295 [GRCh37]
Chr20:20p11.23		 uncertain significance
NM_018474.6(KIZ):c.810G>T (p.Lys270Asn) single nucleotide variant not provided [RCV002685463] Chr20:21162275 [GRCh38]
Chr20:21142916 [GRCh37]
Chr20:20p11.23		 uncertain significance
NM_018474.6(KIZ):c.1405G>C (p.Val469Leu) single nucleotide variant not provided [RCV003034057] Chr20:21205543 [GRCh38]
Chr20:21186181 [GRCh37]
Chr20:20p11.23		 uncertain significance
NM_018474.6(KIZ):c.780T>G (p.His260Gln) single nucleotide variant not provided [RCV002902976] Chr20:21162245 [GRCh38]
Chr20:21142886 [GRCh37]
Chr20:20p11.23		 uncertain significance
NM_018474.6(KIZ):c.1801G>A (p.Gly601Ser) single nucleotide variant Retinal dystrophy [RCV003889132]|not provided [RCV002617937] Chr20:21232751 [GRCh38]
Chr20:21213389 [GRCh37]
Chr20:20p11.23		 uncertain significance
NM_018474.6(KIZ):c.153-11T>A single nucleotide variant not provided [RCV002617890] Chr20:21136379 [GRCh38]
Chr20:21117020 [GRCh37]
Chr20:20p11.23		 likely benign
NM_018474.6(KIZ):c.1923T>A (p.Asn641Lys) single nucleotide variant not provided [RCV003033180] Chr20:21244287 [GRCh38]
Chr20:21224925 [GRCh37]
Chr20:20p11.23		 uncertain significance
NM_018474.6(KIZ):c.15C>G (p.Leu5=) single nucleotide variant not provided [RCV003021793] Chr20:21126130 [GRCh38]
Chr20:21106771 [GRCh37]
Chr20:20p11.23		 likely benign|uncertain significance
NM_018474.6(KIZ):c.1643A>G (p.Lys548Arg) single nucleotide variant not provided [RCV002824937] Chr20:21215613 [GRCh38]
Chr20:21196251 [GRCh37]
Chr20:20p11.23		 uncertain significance
NM_018474.6(KIZ):c.32T>A (p.Leu11Gln) single nucleotide variant not provided [RCV002640173] Chr20:21126147 [GRCh38]
Chr20:21106788 [GRCh37]
Chr20:20p11.23		 uncertain significance
NM_018474.6(KIZ):c.627A>G (p.Val209=) single nucleotide variant not provided [RCV002927990] Chr20:21162092 [GRCh38]
Chr20:21142733 [GRCh37]
Chr20:20p11.23		 likely benign
NM_018474.6(KIZ):c.152+20A>G single nucleotide variant not provided [RCV002912539] Chr20:21132179 [GRCh38]
Chr20:21112820 [GRCh37]
Chr20:20p11.23		 likely benign
NM_018474.6(KIZ):c.316-18A>G single nucleotide variant not provided [RCV002695925] Chr20:21145547 [GRCh38]
Chr20:21126188 [GRCh37]
Chr20:20p11.23		 uncertain significance
NM_018474.6(KIZ):c.536C>G (p.Ser179Cys) single nucleotide variant not provided [RCV002706062] Chr20:21162001 [GRCh38]
Chr20:21142642 [GRCh37]
Chr20:20p11.23		 uncertain significance
NM_018474.6(KIZ):c.405+5T>C single nucleotide variant not provided [RCV002735304] Chr20:21145659 [GRCh38]
Chr20:21126300 [GRCh37]
Chr20:20p11.23		 uncertain significance
NM_018474.6(KIZ):c.362G>A (p.Ser121Asn) single nucleotide variant not provided [RCV002979931] Chr20:21145611 [GRCh38]
Chr20:21126252 [GRCh37]
Chr20:20p11.23		 uncertain significance
NM_018474.6(KIZ):c.1364C>T (p.Thr455Ile) single nucleotide variant not provided [RCV002820769] Chr20:21205502 [GRCh38]
Chr20:21186141 [GRCh37]
Chr20:20p11.23		 uncertain significance
NM_018474.6(KIZ):c.316-2A>G single nucleotide variant not provided [RCV002885811] Chr20:21145563 [GRCh38]
Chr20:21126204 [GRCh37]
Chr20:20p11.23		 likely pathogenic
NM_018474.6(KIZ):c.1352+20T>C single nucleotide variant not provided [RCV003035639] Chr20:21163179 [GRCh38]
Chr20:21143820 [GRCh37]
Chr20:20p11.23		 uncertain significance
NM_018474.6(KIZ):c.1447-1G>A single nucleotide variant not provided [RCV002885209] Chr20:21214534 [GRCh38]
Chr20:21195172 [GRCh37]
Chr20:20p11.23		 likely pathogenic
NM_018474.6(KIZ):c.1125C>T (p.Ser375=) single nucleotide variant not provided [RCV002591260] Chr20:21162932 [GRCh38]
Chr20:21143573 [GRCh37]
Chr20:20p11.23		 uncertain significance
NM_018474.6(KIZ):c.1997A>G (p.Asp666Gly) single nucleotide variant not provided [RCV002570107] Chr20:21246551 [GRCh38]
Chr20:21227189 [GRCh37]
Chr20:20p11.23		 uncertain significance
NM_018474.6(KIZ):c.1505A>G (p.His502Arg) single nucleotide variant not provided [RCV002735726] Chr20:21214593 [GRCh38]
Chr20:21195231 [GRCh37]
Chr20:20p11.23		 uncertain significance
NM_018474.6(KIZ):c.247C>T (p.Arg83Ter) single nucleotide variant not provided [RCV002638622] Chr20:21136484 [GRCh38]
Chr20:21117125 [GRCh37]
Chr20:20p11.23		 pathogenic
NM_018474.6(KIZ):c.477T>A (p.Phe159Leu) single nucleotide variant not specified [RCV004162158] Chr20:21161942 [GRCh38]
Chr20:21142583 [GRCh37]
Chr20:20p11.23		 uncertain significance
NM_018474.6(KIZ):c.872T>C (p.Leu291Ser) single nucleotide variant not provided [RCV003043065] Chr20:21162337 [GRCh38]
Chr20:21142978 [GRCh37]
Chr20:20p11.23		 uncertain significance
NM_018474.6(KIZ):c.1404T>G (p.His468Gln) single nucleotide variant not provided [RCV002667597] Chr20:21205542 [GRCh38]
Chr20:21186180 [GRCh37]
Chr20:20p11.23		 uncertain significance
NM_018474.6(KIZ):c.1292T>C (p.Leu431Ser) single nucleotide variant not specified [RCV004107649] Chr20:21163099 [GRCh38]
Chr20:21143740 [GRCh37]
Chr20:20p11.23		 uncertain significance
NM_018474.6(KIZ):c.143A>G (p.Asp48Gly) single nucleotide variant not provided [RCV003043138] Chr20:21132150 [GRCh38]
Chr20:21112791 [GRCh37]
Chr20:20p11.23		 uncertain significance
NM_018474.6(KIZ):c.1513G>C (p.Glu505Gln) single nucleotide variant not provided [RCV002642821] Chr20:21214601 [GRCh38]
Chr20:21195239 [GRCh37]
Chr20:20p11.23		 uncertain significance
NM_018474.6(KIZ):c.514G>C (p.Asp172His) single nucleotide variant not provided [RCV003023181] Chr20:21161979 [GRCh38]
Chr20:21142620 [GRCh37]
Chr20:20p11.23		 uncertain significance
NM_018474.6(KIZ):c.89+9A>C single nucleotide variant not provided [RCV002663255] Chr20:21126213 [GRCh38]
Chr20:21106854 [GRCh37]
Chr20:20p11.23		 uncertain significance
NM_018474.6(KIZ):c.1874T>A (p.Leu625Ter) single nucleotide variant not provided [RCV002700000] Chr20:21232824 [GRCh38]
Chr20:21213462 [GRCh37]
Chr20:20p11.23		 pathogenic
NM_018474.6(KIZ):c.1203G>A (p.Lys401=) single nucleotide variant not provided [RCV002668017] Chr20:21163010 [GRCh38]
Chr20:21143651 [GRCh37]
Chr20:20p11.23		 uncertain significance
NM_018474.6(KIZ):c.1901C>T (p.Pro634Leu) single nucleotide variant not specified [RCV004226384] Chr20:21244265 [GRCh38]
Chr20:21224903 [GRCh37]
Chr20:20p11.23		 likely benign
NM_018474.6(KIZ):c.1508G>C (p.Ser503Thr) single nucleotide variant not provided [RCV003058152] Chr20:21214596 [GRCh38]
Chr20:21195234 [GRCh37]
Chr20:20p11.23		 uncertain significance
NM_018474.6(KIZ):c.1571A>T (p.Lys524Ile) single nucleotide variant not provided [RCV003006387] Chr20:21214659 [GRCh38]
Chr20:21195297 [GRCh37]
Chr20:20p11.23		 uncertain significance
NM_018474.6(KIZ):c.343A>G (p.Met115Val) single nucleotide variant not provided [RCV002917249] Chr20:21145592 [GRCh38]
Chr20:21126233 [GRCh37]
Chr20:20p11.23		 uncertain significance
NM_018474.6(KIZ):c.916C>T (p.Arg306Trp) single nucleotide variant not provided [RCV002572348]|not specified [RCV004064340] Chr20:21162381 [GRCh38]
Chr20:21143022 [GRCh37]
Chr20:20p11.23		 uncertain significance
NM_018474.6(KIZ):c.217G>T (p.Ala73Ser) single nucleotide variant not provided [RCV002667898] Chr20:21136454 [GRCh38]
Chr20:21117095 [GRCh37]
Chr20:20p11.23		 uncertain significance
NM_018474.6(KIZ):c.9G>A (p.Arg3=) single nucleotide variant not provided [RCV002932981] Chr20:21126124 [GRCh38]
Chr20:21106765 [GRCh37]
Chr20:20p11.23		 likely benign
NM_018474.6(KIZ):c.1090dup (p.Met364fs) duplication not provided [RCV002741551] Chr20:21162892..21162893 [GRCh38]
Chr20:21143533..21143534 [GRCh37]
Chr20:20p11.23		 pathogenic
NM_018474.6(KIZ):c.1482G>A (p.Glu494=) single nucleotide variant not provided [RCV002765477] Chr20:21214570 [GRCh38]
Chr20:21195208 [GRCh37]
Chr20:20p11.23		 uncertain significance
NM_018474.6(KIZ):c.1293_1294del (p.Gln432fs) deletion not provided [RCV003059387] Chr20:21163100..21163101 [GRCh38]
Chr20:21143741..21143742 [GRCh37]
Chr20:20p11.23		 pathogenic
NM_018474.6(KIZ):c.1977C>T (p.Arg659=) single nucleotide variant not provided [RCV002828764] Chr20:21246531 [GRCh38]
Chr20:21227169 [GRCh37]
Chr20:20p11.23		 uncertain significance
NM_018474.6(KIZ):c.958G>T (p.Val320Phe) single nucleotide variant not provided [RCV002594218] Chr20:21162423 [GRCh38]
Chr20:21143064 [GRCh37]
Chr20:20p11.23		 uncertain significance
NM_018474.6(KIZ):c.89+18G>A single nucleotide variant not provided [RCV002829802] Chr20:21126222 [GRCh38]
Chr20:21106863 [GRCh37]
Chr20:20p11.23		 likely benign
NM_018474.6(KIZ):c.1446+1G>A single nucleotide variant not provided [RCV002625446] Chr20:21205585 [GRCh38]
Chr20:21186223 [GRCh37]
Chr20:20p11.23		 likely pathogenic
NM_018474.6(KIZ):c.1865G>C (p.Gly622Ala) single nucleotide variant not provided [RCV003028041] Chr20:21232815 [GRCh38]
Chr20:21213453 [GRCh37]
Chr20:20p11.23		 uncertain significance
NM_018474.6(KIZ):c.233A>C (p.Gln78Pro) single nucleotide variant not provided [RCV003061959] Chr20:21136470 [GRCh38]
Chr20:21117111 [GRCh37]
Chr20:20p11.23		 uncertain significance
NM_018474.6(KIZ):c.821T>C (p.Leu274Pro) single nucleotide variant not provided [RCV002833618] Chr20:21162286 [GRCh38]
Chr20:21142927 [GRCh37]
Chr20:20p11.23		 uncertain significance
NM_018474.6(KIZ):c.16G>T (p.Ala6Ser) single nucleotide variant not specified [RCV004168904] Chr20:21126131 [GRCh38]
Chr20:21106772 [GRCh37]
Chr20:20p11.23		 uncertain significance
NM_018474.6(KIZ):c.1871C>T (p.Pro624Leu) single nucleotide variant not provided [RCV002672263] Chr20:21232821 [GRCh38]
Chr20:21213459 [GRCh37]
Chr20:20p11.23		 uncertain significance
NM_018474.6(KIZ):c.1339G>A (p.Ala447Thr) single nucleotide variant not provided [RCV002601507] Chr20:21163146 [GRCh38]
Chr20:21143787 [GRCh37]
Chr20:20p11.23		 uncertain significance
NM_018474.6(KIZ):c.30C>T (p.Pro10=) single nucleotide variant not provided [RCV003090417] Chr20:21126145 [GRCh38]
Chr20:21106786 [GRCh37]
Chr20:20p11.23		 likely benign|uncertain significance
NM_018474.6(KIZ):c.153-2A>G single nucleotide variant not provided [RCV003027093] Chr20:21136388 [GRCh38]
Chr20:21117029 [GRCh37]
Chr20:20p11.23		 likely pathogenic
NM_018474.6(KIZ):c.966G>A (p.Pro322=) single nucleotide variant not provided [RCV002937075] Chr20:21162431 [GRCh38]
Chr20:21143072 [GRCh37]
Chr20:20p11.23		 likely benign
NM_018474.6(KIZ):c.227G>A (p.Arg76Gln) single nucleotide variant not provided [RCV002746290]|not specified [RCV004067846] Chr20:21136464 [GRCh38]
Chr20:21117105 [GRCh37]
Chr20:20p11.23		 uncertain significance
NM_018474.6(KIZ):c.2017G>A (p.Asp673Asn) single nucleotide variant not provided [RCV002630419] Chr20:21246571 [GRCh38]
Chr20:21227209 [GRCh37]
Chr20:20p11.23		 uncertain significance
NM_018474.6(KIZ):c.1518A>C (p.Ser506=) single nucleotide variant not provided [RCV002600157] Chr20:21214606 [GRCh38]
Chr20:21195244 [GRCh37]
Chr20:20p11.23		 likely benign
NM_018474.6(KIZ):c.1220G>T (p.Gly407Val) single nucleotide variant not provided [RCV002810167] Chr20:21163027 [GRCh38]
Chr20:21143668 [GRCh37]
Chr20:20p11.23		 uncertain significance
NM_018474.6(KIZ):c.1447-13del deletion not provided [RCV002598332] Chr20:21214516 [GRCh38]
Chr20:21195154 [GRCh37]
Chr20:20p11.23		 benign
NM_018474.6(KIZ):c.552G>A (p.Lys184=) single nucleotide variant not provided [RCV002833211] Chr20:21162017 [GRCh38]
Chr20:21142658 [GRCh37]
Chr20:20p11.23		 likely benign
NM_018474.6(KIZ):c.1283dup (p.Asn428fs) duplication not provided [RCV003061262] Chr20:21163083..21163084 [GRCh38]
Chr20:21143724..21143725 [GRCh37]
Chr20:20p11.23		 pathogenic
NM_018474.6(KIZ):c.1151A>G (p.Glu384Gly) single nucleotide variant not provided [RCV002649415] Chr20:21162958 [GRCh38]
Chr20:21143599 [GRCh37]
Chr20:20p11.23		 uncertain significance
NM_018474.6(KIZ):c.906A>G (p.Glu302=) single nucleotide variant not provided [RCV002988355] Chr20:21162371 [GRCh38]
Chr20:21143012 [GRCh37]
Chr20:20p11.23		 likely benign|uncertain significance
NM_018474.6(KIZ):c.382C>A (p.Leu128Met) single nucleotide variant not provided [RCV002646052] Chr20:21145631 [GRCh38]
Chr20:21126272 [GRCh37]
Chr20:20p11.23		 uncertain significance
NM_018474.6(KIZ):c.1760del (p.Asp587fs) deletion not provided [RCV003091463] Chr20:21229092 [GRCh38]
Chr20:21209730 [GRCh37]
Chr20:20p11.23		 pathogenic
NM_018474.6(KIZ):c.75C>T (p.His25=) single nucleotide variant not provided [RCV002598160] Chr20:21126190 [GRCh38]
Chr20:21106831 [GRCh37]
Chr20:20p11.23		 uncertain significance
NM_018474.6(KIZ):c.1613-17A>G single nucleotide variant not provided [RCV002856127] Chr20:21215566 [GRCh38]
Chr20:21196204 [GRCh37]
Chr20:20p11.23		 uncertain significance
NM_018474.6(KIZ):c.1207G>A (p.Glu403Lys) single nucleotide variant not provided [RCV002922873] Chr20:21163014 [GRCh38]
Chr20:21143655 [GRCh37]
Chr20:20p11.23		 uncertain significance
NM_018474.6(KIZ):c.1156G>T (p.Asp386Tyr) single nucleotide variant not provided [RCV002811509] Chr20:21162963 [GRCh38]
Chr20:21143604 [GRCh37]
Chr20:20p11.23		 uncertain significance
NM_018474.6(KIZ):c.1019A>G (p.His340Arg) single nucleotide variant not provided [RCV002658196] Chr20:21162484 [GRCh38]
Chr20:21143125 [GRCh37]
Chr20:20p11.23		 uncertain significance
NM_018474.6(KIZ):c.1144A>G (p.Ile382Val) single nucleotide variant not provided [RCV002584323] Chr20:21162951 [GRCh38]
Chr20:21143592 [GRCh37]
Chr20:20p11.23		 uncertain significance
NM_018474.6(KIZ):c.1613-1G>A single nucleotide variant not provided [RCV002725727] Chr20:21215582 [GRCh38]
Chr20:21196220 [GRCh37]
Chr20:20p11.23		 likely pathogenic
NM_018474.6(KIZ):c.1345A>G (p.Thr449Ala) single nucleotide variant not provided [RCV002942755] Chr20:21163152 [GRCh38]
Chr20:21143793 [GRCh37]
Chr20:20p11.23		 uncertain significance
NM_018474.6(KIZ):c.2015A>G (p.Tyr672Cys) single nucleotide variant not provided [RCV002605407] Chr20:21246569 [GRCh38]
Chr20:21227207 [GRCh37]
Chr20:20p11.23		 uncertain significance
NM_018474.6(KIZ):c.1043-12C>T single nucleotide variant not provided [RCV002635973] Chr20:21162838 [GRCh38]
Chr20:21143479 [GRCh37]
Chr20:20p11.23		 likely benign
NM_018474.6(KIZ):c.478A>G (p.Met160Val) single nucleotide variant not provided [RCV002586498] Chr20:21161943 [GRCh38]
Chr20:21142584 [GRCh37]
Chr20:20p11.23		 uncertain significance
NM_018474.6(KIZ):c.1884T>C (p.His628=) single nucleotide variant not provided [RCV002587409] Chr20:21244248 [GRCh38]
Chr20:21224886 [GRCh37]
Chr20:20p11.23		 likely benign
NM_018474.6(KIZ):c.305_309dup (p.Leu104fs) duplication not provided [RCV003052521] Chr20:21136541..21136542 [GRCh38]
Chr20:21117182..21117183 [GRCh37]
Chr20:20p11.23		 pathogenic
NM_018474.6(KIZ):c.1024_1026del (p.Pro342del) deletion not provided [RCV002589140] Chr20:21162487..21162489 [GRCh38]
Chr20:21143128..21143130 [GRCh37]
Chr20:20p11.23		 uncertain significance
NM_018474.6(KIZ):c.631A>G (p.Thr211Ala) single nucleotide variant not provided [RCV002589734] Chr20:21162096 [GRCh38]
Chr20:21142737 [GRCh37]
Chr20:20p11.23		 uncertain significance
GRCh38/hg38 20p13-11.21(chr20:87153-23635465)x3 copy number gain Renal agenesis [RCV003327640] Chr20:87153..23635465 [GRCh38]
Chr20:20p13-11.21		 pathogenic
NM_018474.6(KIZ):c.615C>G (p.Asp205Glu) single nucleotide variant not specified [RCV004353548] Chr20:21162080 [GRCh38]
Chr20:21142721 [GRCh37]
Chr20:20p11.23		 uncertain significance
NM_018474.6(KIZ):c.947C>T (p.Ala316Val) single nucleotide variant not specified [RCV004344571] Chr20:21162412 [GRCh38]
Chr20:21143053 [GRCh37]
Chr20:20p11.23		 uncertain significance
NM_018474.5(KIZ):c.-43_-42insA insertion not provided [RCV003431275] Chr20:21126073..21126074 [GRCh38]
Chr20:21106714..21106715 [GRCh37]
Chr20:20p11.23		 uncertain significance
NM_018474.6(KIZ):c.1784-11G>T single nucleotide variant not provided [RCV003689463] Chr20:21232723 [GRCh38]
Chr20:21213361 [GRCh37]
Chr20:20p11.23		 likely benign
NM_018474.6(KIZ):c.1352+16T>G single nucleotide variant not provided [RCV003662320] Chr20:21163175 [GRCh38]
Chr20:21143816 [GRCh37]
Chr20:20p11.23		 likely benign
NM_018474.6(KIZ):c.219T>C (p.Ala73=) single nucleotide variant not provided [RCV003851146] Chr20:21136456 [GRCh38]
Chr20:21117097 [GRCh37]
Chr20:20p11.23		 likely benign
NM_018474.6(KIZ):c.1008T>C (p.Ser336=) single nucleotide variant not provided [RCV003716822] Chr20:21162473 [GRCh38]
Chr20:21143114 [GRCh37]
Chr20:20p11.23		 likely benign
NM_018474.6(KIZ):c.1613-17dup duplication not provided [RCV003811819] Chr20:21215565..21215566 [GRCh38]
Chr20:21196203..21196204 [GRCh37]
Chr20:20p11.23		 likely benign
NM_018474.6(KIZ):c.1353-8T>A single nucleotide variant not provided [RCV003697151] Chr20:21205483 [GRCh38]
Chr20:21186122 [GRCh37]
Chr20:20p11.23		 uncertain significance
NM_018474.6(KIZ):c.1390C>T (p.Gln464Ter) single nucleotide variant not provided [RCV003668654] Chr20:21205528 [GRCh38]
Chr20:21186166 [GRCh37]
Chr20:20p11.23		 pathogenic
NM_018474.6(KIZ):c.1784-10C>A single nucleotide variant not provided [RCV003701475] Chr20:21232724 [GRCh38]
Chr20:21213362 [GRCh37]
Chr20:20p11.23		 likely benign
NM_018474.6(KIZ):c.943A>T (p.Arg315Ter) single nucleotide variant not provided [RCV003580332] Chr20:21162408 [GRCh38]
Chr20:21143049 [GRCh37]
Chr20:20p11.23		 pathogenic
NM_018474.6(KIZ):c.1414T>C (p.Leu472=) single nucleotide variant not provided [RCV003549304] Chr20:21205552 [GRCh38]
Chr20:21186190 [GRCh37]
Chr20:20p11.23		 likely benign
NM_018474.6(KIZ):c.1824T>C (p.Ala608=) single nucleotide variant not provided [RCV003711118] Chr20:21232774 [GRCh38]
Chr20:21213412 [GRCh37]
Chr20:20p11.23		 likely benign
NM_018474.6(KIZ):c.1784-18T>C single nucleotide variant not provided [RCV003705604] Chr20:21232716 [GRCh38]
Chr20:21213354 [GRCh37]
Chr20:20p11.23		 likely benign
NM_018474.6(KIZ):c.1776C>T (p.His592=) single nucleotide variant not provided [RCV003567853] Chr20:21229108 [GRCh38]
Chr20:21209746 [GRCh37]
Chr20:20p11.23		 likely benign
NM_018474.6(KIZ):c.1326A>G (p.Glu442=) single nucleotide variant KIZ-related disorder [RCV003909223]|Retinal dystrophy [RCV003890414] Chr20:21163133 [GRCh38]
Chr20:21143774 [GRCh37]
Chr20:20p11.23		 likely benign|uncertain significance
NM_018474.6(KIZ):c.153-10A>G single nucleotide variant not provided [RCV003565915] Chr20:21136380 [GRCh38]
Chr20:21117021 [GRCh37]
Chr20:20p11.23		 likely benign
NM_018474.6(KIZ):c.752G>T (p.Cys251Phe) single nucleotide variant not provided [RCV003867014] Chr20:21162217 [GRCh38]
Chr20:21142858 [GRCh37]
Chr20:20p11.23		 uncertain significance
NM_018474.6(KIZ):c.1043-10C>T single nucleotide variant not provided [RCV003707762] Chr20:21162840 [GRCh38]
Chr20:21143481 [GRCh37]
Chr20:20p11.23		 likely benign
NM_018474.6(KIZ):c.315+8C>T single nucleotide variant not provided [RCV003677510] Chr20:21136560 [GRCh38]
Chr20:21117201 [GRCh37]
Chr20:20p11.23		 likely benign
NM_018474.6(KIZ):c.1800C>T (p.Ser600=) single nucleotide variant not provided [RCV003862313] Chr20:21232750 [GRCh38]
Chr20:21213388 [GRCh37]
Chr20:20p11.23		 likely benign
NM_018474.6(KIZ):c.1925-14G>A single nucleotide variant not provided [RCV003682593] Chr20:21246465 [GRCh38]
Chr20:21227103 [GRCh37]
Chr20:20p11.23		 likely benign
NM_018474.6(KIZ):c.543G>T (p.Gln181His) single nucleotide variant not provided [RCV003555567] Chr20:21162008 [GRCh38]
Chr20:21142649 [GRCh37]
Chr20:20p11.23		 uncertain significance
NM_018474.6(KIZ):c.805A>T (p.Lys269Ter) single nucleotide variant not provided [RCV003709048] Chr20:21162270 [GRCh38]
Chr20:21142911 [GRCh37]
Chr20:20p11.23		 pathogenic
NM_018474.6(KIZ):c.1389A>G (p.Ala463=) single nucleotide variant not provided [RCV003567980] Chr20:21205527 [GRCh38]
Chr20:21186165 [GRCh37]
Chr20:20p11.23		 likely benign
NM_018474.6(KIZ):c.1392G>A (p.Gln464=) single nucleotide variant not provided [RCV003993087] Chr20:21205530 [GRCh38]
Chr20:21186168 [GRCh37]
Chr20:20p11.23		 likely benign
NC_000020.10:g.18200000_22600000del deletion Hyperinsulinemic hypoglycemia, familial, 1 [RCV003992660] Chr20:18200000..22600000 [GRCh37]
Chr20:20p11.23-11.21		 pathogenic
GRCh37/hg19 20p13-11.21(chr20:68351-23860313)x3 copy number gain not provided [RCV003885495] Chr20:68351..23860313 [GRCh37]
Chr20:20p13-11.21		 pathogenic
NM_001276389.2(KIZ):c.27C>T (p.Thr9=) single nucleotide variant Retinal dystrophy [RCV003890402] Chr20:21126063 [GRCh38]
Chr20:21106704 [GRCh37]
Chr20:20p11.23		 uncertain significance
NC_000020.10:g.16400000_24400000del deletion Hyperinsulinemic hypoglycemia, familial, 1 [RCV003992661] Chr20:16400000..24400000 [GRCh37]
Chr20:20p12.1-11.21		 pathogenic
Single allele complex Hyperinsulinemic hypoglycemia, familial, 1 [RCV003992662] Chr20:19507012..22525898 [GRCh37]
Chr20:20p11.23-11.21		 likely pathogenic
NM_018474.6(KIZ):c.868G>A (p.Asp290Asn) single nucleotide variant Retinal dystrophy [RCV003890409] Chr20:21162333 [GRCh38]
Chr20:21142974 [GRCh37]
Chr20:20p11.23		 uncertain significance
NM_018474.6(KIZ):c.931G>A (p.Val311Ile) single nucleotide variant Retinal dystrophy [RCV003890410] Chr20:21162396 [GRCh38]
Chr20:21143037 [GRCh37]
Chr20:20p11.23		 uncertain significance
NM_018474.6(KIZ):c.1181C>T (p.Pro394Leu) single nucleotide variant Retinal dystrophy [RCV003890412] Chr20:21162988 [GRCh38]
Chr20:21143629 [GRCh37]
Chr20:20p11.23		 uncertain significance
NM_018474.6(KIZ):c.1264G>T (p.Ala422Ser) single nucleotide variant Retinal dystrophy [RCV003890413] Chr20:21163071 [GRCh38]
Chr20:21143712 [GRCh37]
Chr20:20p11.23		 uncertain significance
NM_001276389.2(KIZ):c.39dup (p.Pro14fs) duplication Retinal dystrophy [RCV003890403] Chr20:21126073..21126074 [GRCh38]
Chr20:21106714..21106715 [GRCh37]
Chr20:20p11.23		 benign
NM_018474.6(KIZ):c.1317A>G (p.Ser439=) single nucleotide variant KIZ-related disorder [RCV003921784] Chr20:21163124 [GRCh38]
Chr20:21143765 [GRCh37]
Chr20:20p11.23		 likely benign
NM_018474.6(KIZ):c.117G>T (p.Lys39Asn) single nucleotide variant Retinal dystrophy [RCV003890406] Chr20:21132124 [GRCh38]
Chr20:21112765 [GRCh37]
Chr20:20p11.23		 likely pathogenic
NM_018474.6(KIZ):c.1549A>G (p.Asn517Asp) single nucleotide variant Retinal dystrophy [RCV003890416] Chr20:21214637 [GRCh38]
Chr20:21195275 [GRCh37]
Chr20:20p11.23		 uncertain significance
NM_018474.6(KIZ):c.-19C>T single nucleotide variant KIZ-related disorder [RCV003964118] Chr20:21126097 [GRCh38]
Chr20:21106738 [GRCh37]
Chr20:20p11.23		 likely benign
NM_018474.6(KIZ):c.1386_1387insA (p.Ala463fs) insertion Retinal dystrophy [RCV003890415] Chr20:21205524..21205525 [GRCh38]
Chr20:21186162..21186163 [GRCh37]
Chr20:20p11.23		 benign
NM_018474.6(KIZ):c.30C>A (p.Pro10=) single nucleotide variant Retinal dystrophy [RCV003890404] Chr20:21126145 [GRCh38]
Chr20:21106786 [GRCh37]
Chr20:20p11.23		 uncertain significance
NM_018474.6(KIZ):c.282C>T (p.Phe94=) single nucleotide variant KIZ-related disorder [RCV003949377] Chr20:21136519 [GRCh38]
Chr20:21117160 [GRCh37]
Chr20:20p11.23		 likely benign
NM_001276389.2(KIZ):c.14C>G (p.Ser5Cys) single nucleotide variant Retinal dystrophy [RCV003890401] Chr20:21126050 [GRCh38]
Chr20:21106691 [GRCh37]
Chr20:20p11.23		 uncertain significance
NM_018474.6(KIZ):c.193G>A (p.Glu65Lys) single nucleotide variant Retinal dystrophy [RCV003890407] Chr20:21136430 [GRCh38]
Chr20:21117071 [GRCh37]
Chr20:20p11.23		 uncertain significance
NM_018474.6(KIZ):c.276A>C (p.Val92=) single nucleotide variant Retinal dystrophy [RCV003890408] Chr20:21136513 [GRCh38]
Chr20:21117154 [GRCh37]
Chr20:20p11.23		 uncertain significance
NM_018474.6(KIZ):c.62_65del (p.Gly21fs) deletion Retinal dystrophy [RCV003890405] Chr20:21126177..21126180 [GRCh38]
Chr20:21106818..21106821 [GRCh37]
Chr20:20p11.23		 likely pathogenic
NC_000020.10:g.20158646_24080787del deletion Hyperinsulinemic hypoglycemia, familial, 1 [RCV003992658] Chr20:20158646..24080787 [GRCh37]
Chr20:20p11.23-11.21		 pathogenic
NC_000020.10:g.19434987_22528253del deletion Hyperinsulinemic hypoglycemia, familial, 1 [RCV003992659] Chr20:19434987..22528253 [GRCh37]
Chr20:20p11.23-11.21		 pathogenic
NM_018474.6(KIZ):c.56G>A (p.Arg19Lys) single nucleotide variant not specified [RCV004406505] Chr20:21126171 [GRCh38]
Chr20:21106812 [GRCh37]
Chr20:20p11.23		 uncertain significance
NM_018474.6(KIZ):c.955C>T (p.Pro319Ser) single nucleotide variant not specified [RCV004406507] Chr20:21162420 [GRCh38]
Chr20:21143061 [GRCh37]
Chr20:20p11.23		 uncertain significance
NM_018474.6(KIZ):c.1958A>G (p.Glu653Gly) single nucleotide variant not specified [RCV004637009] Chr20:21246512 [GRCh38]
Chr20:21227150 [GRCh37]
Chr20:20p11.23		 uncertain significance
NM_018474.6(KIZ):c.1705A>C (p.Lys569Gln) single nucleotide variant not specified [RCV004631519] Chr20:21229037 [GRCh38]
Chr20:21209675 [GRCh37]
Chr20:20p11.23		 likely benign
NM_018474.6(KIZ):c.1148G>A (p.Ser383Asn) single nucleotide variant not specified [RCV004406504] Chr20:21162955 [GRCh38]
Chr20:21143596 [GRCh37]
Chr20:20p11.23		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:782
Count of miRNA genes:392
Interacting mature miRNAs:424
Transcripts:ENST00000246027, ENST00000419359, ENST00000423272, ENST00000424111, ENST00000427692, ENST00000428699, ENST00000432487, ENST00000441136, ENST00000445992, ENST00000447448, ENST00000451772, ENST00000457464, ENST00000458446
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
407160838GWAS809814_Hbody height QTL GWAS809814 (human)4e-10body height (VT:0001253)body height (CMO:0000106)202119962021199621Human
407236493GWAS885469_Hbody height QTL GWAS885469 (human)1e-12body height (VT:0001253)body height (CMO:0000106)202120957821209579Human
407052873GWAS701849_Hautism spectrum disorder QTL GWAS701849 (human)0.0000008autism spectrum disorder202114157121141572Human
406921549GWAS570525_Hlean body mass QTL GWAS570525 (human)8e-11body lean mass (VT:0010483)total body lean mass (CMO:0003950)202114402621144027Human
407209608GWAS858584_Hobsessive-compulsive disorder, attention deficit hyperactivity disorder, Tourette syndrome, unipolar depression, bipolar disorder, autism spectrum disorder, schizophrenia, anorexia nervosa QTL GWAS858584 (human)3e-10obsessive-compulsive disorder, attention deficit hyperactivity disorder, Tourette syndrome, unipolar depression, bipolar disorder, autism spectrum disorder, schizophrenia, anorexia nervosa202117047721170478Human
407411974GWAS1060950_Hattention deficit hyperactivity disorder, autism spectrum disorder QTL GWAS1060950 (human)4e-09attention deficit hyperactivity disorder, autism spectrum disorder202119596521195966Human
406915795GWAS564771_Hlean body mass QTL GWAS564771 (human)1e-08body lean mass (VT:0010483)total body lean mass (CMO:0003950)202114402621144027Human
407177361GWAS826337_Hbody height QTL GWAS826337 (human)1e-08body height (VT:0001253)body height (CMO:0000106)202119725921197260Human
406894743GWAS543719_Hbody surface area QTL GWAS543719 (human)1e-11body surface area202124302521243026Human
406924377GWAS573353_Happendicular lean mass QTL GWAS573353 (human)2e-10appendicular lean mass202113106921131070Human
406924378GWAS573354_Happendicular lean mass QTL GWAS573354 (human)4e-10appendicular lean mass202123733821237339Human
406927199GWAS576175_Hbody height QTL GWAS576175 (human)6e-09body height (VT:0001253)body height (CMO:0000106)202113719921137200Human
407017372GWAS666348_Hbody height QTL GWAS666348 (human)4e-22body height (VT:0001253)body height (CMO:0000106)202121516521215166Human
1643385BW311_HBody weight QTL 311 (human)3.310.0001Body fat amount20734547523289549Human
407018018GWAS666994_Hbody height QTL GWAS666994 (human)6e-34body height (VT:0001253)body height (CMO:0000106)202119491021194911Human
407290470GWAS939446_Hbody weight QTL GWAS939446 (human)7e-12body mass (VT:0001259)body weight (CMO:0000012)202124302521243026Human
407304416GWAS953392_Hlean body mass QTL GWAS953392 (human)2e-15body lean mass (VT:0010483)total body lean mass (CMO:0003950)202124302521243026Human
407018986GWAS667962_Hbody height QTL GWAS667962 (human)3e-17body height (VT:0001253)body height (CMO:0000106)202124302521243026Human
407354604GWAS1003580_HBMI-adjusted hip circumference QTL GWAS1003580 (human)1e-10BMI-adjusted hip circumferencehip circumference (CMO:0000014)202123733821237339Human
1643383BW312_HBody weight QTL 312 (human)2.920.0004Body fat amountpercent fat20734547523289549Human
406918575GWAS567551_Hattention deficit hyperactivity disorder, bipolar disorder, autism spectrum disorder, schizophrenia, major depressive disorder QTL GWAS567551 (human)9e-09attention deficit hyperactivity disorder, bipolar disorder, autism spectrum disorder, schizophrenia, major depressive disorder202115495621154957Human
406887280GWAS536256_Hpeanut allergy measurement QTL GWAS536256 (human)0.000002peanut allergy measurement202123957421239575Human
407099953GWAS748929_Hlupus nephritis QTL GWAS748929 (human)0.000005lupus nephritis202116217221162173Human
407174195GWAS823171_Happendicular lean mass QTL GWAS823171 (human)1e-32appendicular lean mass202123733821237339Human
407261949GWAS910925_Hbody height QTL GWAS910925 (human)1e-245body height (VT:0001253)body height (CMO:0000106)202123320621233207Human
406928445GWAS577421_Happendicular lean mass QTL GWAS577421 (human)6e-09appendicular lean mass202123733821237339Human
407331259GWAS980235_Hattention deficit hyperactivity disorder, autism spectrum disorder, intelligence QTL GWAS980235 (human)1e-09attention deficit hyperactivity disorder, autism spectrum disorder, intelligence202124286021242861Human
407149370GWAS798346_Hcystatin C measurement QTL GWAS798346 (human)1e-13cystatin C measurementblood cystatin C level (CMO:0002777)202116725621167257Human

Markers in Region
STS-T79955  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372021,178,417 - 21,178,641UniSTSGRCh37
Build 362021,126,417 - 21,126,641RGDNCBI36
Celera2021,254,963 - 21,255,187RGD
Cytogenetic Map20p11.23UniSTS
HuRef2021,143,503 - 21,143,727UniSTS
GeneMap99-GB4 RH Map20126.62UniSTS
RH66519  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372021,227,034 - 21,227,176UniSTSGRCh37
Build 362021,175,034 - 21,175,176RGDNCBI36
Celera2021,303,589 - 21,303,731RGD
Cytogenetic Map20p11.23UniSTS
HuRef2021,192,132 - 21,192,274UniSTS
GeneMap99-GB4 RH Map20107.35UniSTS
NCBI RH Map20150.7UniSTS
RH118919  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372021,120,586 - 21,120,858UniSTSGRCh37
Build 362021,068,586 - 21,068,858RGDNCBI36
Celera2021,197,139 - 21,197,411RGD
Cytogenetic Map20p11.23UniSTS
HuRef2021,085,669 - 21,085,941UniSTS
TNG Radiation Hybrid Map2011327.0UniSTS
AB060251  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372021,143,529 - 21,143,651UniSTSGRCh37
Build 362021,091,529 - 21,091,651RGDNCBI36
Celera2021,220,078 - 21,220,200RGD
HuRef2021,108,618 - 21,108,740UniSTS
Z94688  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372021,206,434 - 21,206,605UniSTSGRCh37
Build 362021,154,434 - 21,154,605RGDNCBI36
Celera2021,282,981 - 21,283,152RGD
Cytogenetic Map20p11.23UniSTS
HuRef2021,171,523 - 21,171,694UniSTS


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
1204 2432 2788 2245 4943 1723 2345 4 622 1948 464 2268 7281 6454 52 3709 847 1732 1612 170

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_033122 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001163022 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001163023 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001276389 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001352434 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001352435 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001352436 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_018474 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011529296 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011529297 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011529299 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017027951 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017027952 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047440292 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054323688 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054323689 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054323690 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054323691 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001754334 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_007067468 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008485277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008485278 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008485279 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_937105 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF220187 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF451990 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK025476 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK055105 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK293166 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK293567 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK295355 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK296399 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL110120 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL110196 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL117332 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL121759 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC013055 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC039296 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC045826 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC065550 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC090879 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC105093 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC113370 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471133 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068258 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC386700 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF459716 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF511292 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF511297 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000419359
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2021,218,464 - 21,246,620 (+)Ensembl
Ensembl Acc Id: ENST00000423272
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2021,244,471 - 21,246,618 (+)Ensembl
Ensembl Acc Id: ENST00000441136
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2021,226,140 - 21,232,914 (+)Ensembl
Ensembl Acc Id: ENST00000451772
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2021,218,459 - 21,244,354 (+)Ensembl
Ensembl Acc Id: ENST00000611685   ⟹   ENSP00000483644
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2021,126,039 - 21,246,618 (+)Ensembl
Ensembl Acc Id: ENST00000612654   ⟹   ENSP00000480859
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2021,126,014 - 21,136,449 (+)Ensembl
Ensembl Acc Id: ENST00000616679   ⟹   ENSP00000483065
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2021,145,586 - 21,246,622 (+)Ensembl
Ensembl Acc Id: ENST00000616848   ⟹   ENSP00000480612
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2021,126,052 - 21,246,618 (+)Ensembl
Ensembl Acc Id: ENST00000619179   ⟹   ENSP00000477873
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2021,145,589 - 21,246,622 (+)Ensembl
Ensembl Acc Id: ENST00000619189   ⟹   ENSP00000479542
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2021,126,082 - 21,246,622 (+)Ensembl
Ensembl Acc Id: ENST00000619574   ⟹   ENSP00000484706
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2021,125,983 - 21,246,618 (+)Ensembl
Ensembl Acc Id: ENST00000620553
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2021,126,060 - 21,145,655 (+)Ensembl
Ensembl Acc Id: ENST00000620891   ⟹   ENSP00000478019
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2021,126,007 - 21,246,622 (+)Ensembl
Ensembl Acc Id: ENST00000621366   ⟹   ENSP00000480652
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2021,162,083 - 21,246,622 (+)Ensembl
Ensembl Acc Id: ENST00000622184
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2021,126,038 - 21,133,179 (+)Ensembl
RefSeq Acc Id: NM_001163022   ⟹   NP_001156494
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382021,126,082 - 21,246,622 (+)NCBI
GRCh372021,106,624 - 21,227,260 (+)RGD
Celera2021,183,174 - 21,303,815 (+)RGD
HuRef2021,071,704 - 21,192,358 (+)RGD
CHM1_12021,107,363 - 21,227,996 (+)NCBI
T2T-CHM13v2.02021,186,867 - 21,305,970 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001163023   ⟹   NP_001156495
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382021,126,082 - 21,246,622 (+)NCBI
GRCh372021,106,624 - 21,227,260 (+)RGD
Celera2021,183,174 - 21,303,815 (+)RGD
HuRef2021,071,704 - 21,192,358 (+)RGD
CHM1_12021,107,363 - 21,227,996 (+)NCBI
T2T-CHM13v2.02021,186,867 - 21,305,970 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001276389   ⟹   NP_001263318
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382021,125,975 - 21,246,622 (+)NCBI
GRCh372021,106,624 - 21,227,260 (+)NCBI
HuRef2021,071,704 - 21,192,358 (+)NCBI
CHM1_12021,107,363 - 21,227,996 (+)NCBI
T2T-CHM13v2.02021,186,759 - 21,305,970 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001352434   ⟹   NP_001339363
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382021,126,082 - 21,246,622 (+)NCBI
T2T-CHM13v2.02021,186,867 - 21,305,970 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001352435   ⟹   NP_001339364
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382021,126,082 - 21,246,622 (+)NCBI
T2T-CHM13v2.02021,186,867 - 21,305,970 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001352436   ⟹   NP_001339365
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382021,126,082 - 21,246,622 (+)NCBI
T2T-CHM13v2.02021,186,867 - 21,305,970 (+)NCBI
Sequence:
RefSeq Acc Id: NM_018474   ⟹   NP_060944
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382021,126,082 - 21,246,622 (+)NCBI
GRCh372021,106,624 - 21,227,260 (+)RGD
Build 362021,054,646 - 21,175,260 (+)NCBI Archive
Celera2021,183,174 - 21,303,815 (+)RGD
HuRef2021,071,704 - 21,192,358 (+)RGD
CHM1_12021,107,363 - 21,227,996 (+)NCBI
T2T-CHM13v2.02021,186,867 - 21,305,970 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011529296   ⟹   XP_011527598
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382021,126,082 - 21,246,622 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011529297   ⟹   XP_011527599
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382021,126,082 - 21,246,622 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011529299   ⟹   XP_011527601
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382021,126,082 - 21,246,622 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047440292   ⟹   XP_047296248
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382021,141,209 - 21,246,622 (+)NCBI
RefSeq Acc Id: XM_054323688   ⟹   XP_054179663
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02021,186,867 - 21,305,970 (+)NCBI
RefSeq Acc Id: XM_054323689   ⟹   XP_054179664
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02021,186,867 - 21,305,970 (+)NCBI
RefSeq Acc Id: XM_054323690   ⟹   XP_054179665
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02021,186,867 - 21,305,970 (+)NCBI
RefSeq Acc Id: XM_054323691   ⟹   XP_054179666
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02021,201,996 - 21,305,970 (+)NCBI
RefSeq Acc Id: XR_001754334
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382021,126,082 - 21,245,151 (+)NCBI
Sequence:
RefSeq Acc Id: XR_007067468
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382021,126,082 - 21,245,151 (+)NCBI
RefSeq Acc Id: XR_008485277
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02021,186,867 - 21,304,499 (+)NCBI
RefSeq Acc Id: XR_008485278
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02021,186,867 - 21,305,970 (+)NCBI
RefSeq Acc Id: XR_008485279
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02021,186,867 - 21,304,499 (+)NCBI
RefSeq Acc Id: XR_937105
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382021,126,082 - 21,246,622 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001156494 (Get FASTA)   NCBI Sequence Viewer  
  NP_001156495 (Get FASTA)   NCBI Sequence Viewer  
  NP_001263318 (Get FASTA)   NCBI Sequence Viewer  
  NP_001339363 (Get FASTA)   NCBI Sequence Viewer  
  NP_001339364 (Get FASTA)   NCBI Sequence Viewer  
  NP_001339365 (Get FASTA)   NCBI Sequence Viewer  
  NP_060944 (Get FASTA)   NCBI Sequence Viewer  
  XP_011527598 (Get FASTA)   NCBI Sequence Viewer  
  XP_011527599 (Get FASTA)   NCBI Sequence Viewer  
  XP_011527601 (Get FASTA)   NCBI Sequence Viewer  
  XP_047296248 (Get FASTA)   NCBI Sequence Viewer  
  XP_054179663 (Get FASTA)   NCBI Sequence Viewer  
  XP_054179664 (Get FASTA)   NCBI Sequence Viewer  
  XP_054179665 (Get FASTA)   NCBI Sequence Viewer  
  XP_054179666 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAF67652 (Get FASTA)   NCBI Sequence Viewer  
  AAH39296 (Get FASTA)   NCBI Sequence Viewer  
  AAH45826 (Get FASTA)   NCBI Sequence Viewer  
  AAH65550 (Get FASTA)   NCBI Sequence Viewer  
  AAH90879 (Get FASTA)   NCBI Sequence Viewer  
  AAI05094 (Get FASTA)   NCBI Sequence Viewer  
  AAI13371 (Get FASTA)   NCBI Sequence Viewer  
  AAP97689 (Get FASTA)   NCBI Sequence Viewer  
  BAG56710 (Get FASTA)   NCBI Sequence Viewer  
  BAG57038 (Get FASTA)   NCBI Sequence Viewer  
  BAG58321 (Get FASTA)   NCBI Sequence Viewer  
  BAG59066 (Get FASTA)   NCBI Sequence Viewer  
  CAH10726 (Get FASTA)   NCBI Sequence Viewer  
  EAX10188 (Get FASTA)   NCBI Sequence Viewer  
  EAX10189 (Get FASTA)   NCBI Sequence Viewer  
  EAX10190 (Get FASTA)   NCBI Sequence Viewer  
  EAX10191 (Get FASTA)   NCBI Sequence Viewer  
  EAX10192 (Get FASTA)   NCBI Sequence Viewer  
  EAX10193 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000477873.1
  ENSP00000478019
  ENSP00000478019.1
  ENSP00000479542
  ENSP00000479542.1
  ENSP00000480612
  ENSP00000480612.1
  ENSP00000480652.1
  ENSP00000480859.1
  ENSP00000483065
  ENSP00000483065.1
  ENSP00000483644.2
  ENSP00000484706
  ENSP00000484706.1
GenBank Protein Q2M2Z5 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_060944   ⟸   NM_018474
- Peptide Label: isoform 1
- UniProtKB: Q71ME0 (UniProtKB/Swiss-Prot),   Q6P0M6 (UniProtKB/Swiss-Prot),   Q5BKY3 (UniProtKB/Swiss-Prot),   Q4G0S5 (UniProtKB/Swiss-Prot),   Q4G0M8 (UniProtKB/Swiss-Prot),   B4DK54 (UniProtKB/Swiss-Prot),   B4DDE9 (UniProtKB/Swiss-Prot),   Q9NZ35 (UniProtKB/Swiss-Prot),   Q2M2Z5 (UniProtKB/Swiss-Prot),   B4DEC7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001156494   ⟸   NM_001163022
- Peptide Label: isoform 2
- UniProtKB: B4DEC7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001156495   ⟸   NM_001163023
- Peptide Label: isoform 3
- UniProtKB: B4DEC7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001263318   ⟸   NM_001276389
- Peptide Label: isoform 4
- UniProtKB: A0A087X251 (UniProtKB/TrEMBL),   A0A087X0T6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011527601   ⟸   XM_011529299
- Peptide Label: isoform X3
- UniProtKB: B4DEC7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011527598   ⟸   XM_011529296
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011527599   ⟸   XM_011529297
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: NP_001339365   ⟸   NM_001352436
- Peptide Label: isoform 7
- UniProtKB: B4DEC7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001339363   ⟸   NM_001352434
- Peptide Label: isoform 5
- UniProtKB: B4DEC7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001339364   ⟸   NM_001352435
- Peptide Label: isoform 6
- UniProtKB: B4DEC7 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000478019   ⟸   ENST00000620891
Ensembl Acc Id: ENSP00000480652   ⟸   ENST00000621366
Ensembl Acc Id: ENSP00000483644   ⟸   ENST00000611685
Ensembl Acc Id: ENSP00000480859   ⟸   ENST00000612654
Ensembl Acc Id: ENSP00000480612   ⟸   ENST00000616848
Ensembl Acc Id: ENSP00000483065   ⟸   ENST00000616679
Ensembl Acc Id: ENSP00000484706   ⟸   ENST00000619574
Ensembl Acc Id: ENSP00000477873   ⟸   ENST00000619179
Ensembl Acc Id: ENSP00000479542   ⟸   ENST00000619189
RefSeq Acc Id: XP_047296248   ⟸   XM_047440292
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054179663   ⟸   XM_054323688
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054179664   ⟸   XM_054323689
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054179665   ⟸   XM_054323690
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054179666   ⟸   XM_054323691
- Peptide Label: isoform X4

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q2M2Z5-F1-model_v2 AlphaFold Q2M2Z5 1-673 view protein structure

Promoters
RGD ID:6798670
Promoter ID:HG_KWN:38799
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000246027,   NM_001163023,   OTTHUMT00000078266,   OTTHUMT00000078268,   UC002WSB.1,   UC010GCY.1
Position:
Human AssemblyChrPosition (strand)Source
Build 362021,054,446 - 21,054,946 (+)MPROMDB
RGD ID:13206511
Promoter ID:EPDNEW_H26836
Type:initiation region
Name:KIZ_1
Description:kizuna centrosomal protein
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
GRCh382021,126,082 - 21,126,142EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:15865 AgrOrtholog
COSMIC KIZ COSMIC
Ensembl Genes ENSG00000088970 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000611685.4 UniProtKB/TrEMBL
  ENST00000612654.1 UniProtKB/TrEMBL
  ENST00000616679 ENTREZGENE
  ENST00000616679.4 UniProtKB/TrEMBL
  ENST00000616848 ENTREZGENE
  ENST00000616848.4 UniProtKB/Swiss-Prot
  ENST00000619179.4 UniProtKB/TrEMBL
  ENST00000619189 ENTREZGENE
  ENST00000619189.5 UniProtKB/Swiss-Prot
  ENST00000619574 ENTREZGENE
  ENST00000619574.4 UniProtKB/TrEMBL
  ENST00000620891 ENTREZGENE
  ENST00000620891.4 UniProtKB/Swiss-Prot
  ENST00000621366.1 UniProtKB/TrEMBL
GTEx ENSG00000088970 GTEx
HGNC ID HGNC:15865 ENTREZGENE
Human Proteome Map KIZ Human Proteome Map
InterPro Centrosomal_kizuma UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:55857 UniProtKB/Swiss-Prot
NCBI Gene 55857 ENTREZGENE
OMIM 615757 OMIM
PANTHER CENTROSOMAL PROTEIN KIZUNA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR16299 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA165392491 PharmGKB
UniProt A0A087WTH3_HUMAN UniProtKB/TrEMBL
  A0A087WX12_HUMAN UniProtKB/TrEMBL
  A0A087WXA9_HUMAN UniProtKB/TrEMBL
  A0A087X032_HUMAN UniProtKB/TrEMBL
  A0A087X0T6 ENTREZGENE, UniProtKB/TrEMBL
  A0A087X251 ENTREZGENE, UniProtKB/TrEMBL
  B4DDE9 ENTREZGENE
  B4DEC7 ENTREZGENE, UniProtKB/TrEMBL
  B4DK54 ENTREZGENE
  KIZ_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q4G0M8 ENTREZGENE
  Q4G0S5 ENTREZGENE
  Q5BKY3 ENTREZGENE
  Q6P0M6 ENTREZGENE
  Q71ME0 ENTREZGENE
  Q9NZ35 ENTREZGENE
UniProt Secondary B4DDE9 UniProtKB/Swiss-Prot
  B4DK54 UniProtKB/Swiss-Prot
  Q4G0M8 UniProtKB/Swiss-Prot
  Q4G0S5 UniProtKB/Swiss-Prot
  Q5BKY3 UniProtKB/Swiss-Prot
  Q6P0M6 UniProtKB/Swiss-Prot
  Q71ME0 UniProtKB/Swiss-Prot
  Q9NZ35 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2014-03-05 KIZ  kizuna centrosomal protein  PLK1S1  polo-like kinase 1 substrate 1  Symbol and/or name change 5135510 APPROVED
2011-07-27 PLK1S1  polo-like kinase 1 substrate 1  C20orf19  chromosome 20 open reading frame 19  Symbol and/or name change 5135510 APPROVED