ClinVar Miner

Variants studied for Retinal dystrophy

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If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign total
992 1336 3044 519 635 6416

Gene and significance breakdown #

Total genes and gene combinations: 248
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
USH2A 141 131 272 53 42 627
ABCA4 145 115 215 14 17 485
EYS 58 61 114 22 29 279
RP1L1 3 16 151 41 31 241
RPGR 58 75 43 2 10 181
CRB1 30 38 70 7 1 140
RP1 12 44 61 7 6 125
CEP290 19 17 65 12 8 120
CNGB1 10 16 68 8 16 117
PDE6B 14 23 61 7 2 105
PRPH2 25 39 28 1 14 103
PCARE 14 9 43 19 16 101
PROM1 17 21 51 9 4 100
KIAA1549 0 2 58 19 16 95
PRPF31 9 39 29 5 13 94
PRPF8 6 11 34 17 23 89
IMPG2 13 25 36 10 4 87
RHO 21 27 31 2 8 87
MERTK 5 13 47 6 9 79
SNRNP200 2 8 47 6 19 79
RBP3 1 6 52 13 5 77
IFT140 3 9 39 14 6 69
BEST1 20 17 21 4 5 67
PDE6A 7 7 39 6 7 65
NR2E3 12 11 25 10 6 60
IMPG1 0 5 23 2 29 58
ADGRA3 0 0 30 12 15 57
DHX38 0 3 28 18 6 55
EYS, PHF3 7 11 33 2 2 54
AGBL5 0 2 45 5 1 53
IMPDH1 0 7 31 2 12 51
MYO7A 15 16 20 0 0 51
TULP1 4 10 30 3 4 51
CHM 12 23 11 2 1 49
MAK 2 9 27 7 2 47
CERKL 8 13 18 5 3 46
RPE65 13 7 24 2 1 46
IFT140, LOC105371046 1 6 29 4 4 44
BBS2 9 7 21 2 4 43
CRX 7 15 12 2 9 43
FSCN2 0 3 9 6 25 43
ADGRV1 4 14 23 0 0 41
EMC1 0 2 24 7 8 41
TOPORS 4 4 7 9 16 40
HGSNAT 5 6 20 5 2 37
IFT172 1 1 29 6 0 37
CNGA3 22 8 6 0 0 36
CYP4V2 6 7 18 2 4 36
LRAT 0 1 29 4 1 35
HK1 1 2 12 4 16 34
SLC7A14 0 2 19 7 6 34
CNGA1, LOC101927157 4 8 20 0 1 33
RP2 6 14 13 1 0 32
SPATA7 3 3 19 5 2 32
PRPF6 0 2 13 5 11 30
ABCA4, LOC126805793 8 8 16 0 0 29
GUCY2D 6 9 15 0 0 28
ALMS1 11 11 4 0 0 26
TTC8 1 0 22 3 0 26
FAM161A 6 2 10 3 4 25
POMGNT1, TSPAN1 1 1 17 5 1 25
SAG 3 2 15 0 5 25
BBS1, ZDHHC24 4 6 11 3 1 24
CDKL5, RS1 15 7 2 0 0 24
CLRN1 5 4 14 0 1 24
GPHN, RDH12 6 8 9 0 3 24
GPHN, RDH12, ZFYVE26 5 7 9 2 0 23
KIZ 1 3 13 2 4 23
SEMA4A 0 2 7 1 13 23
KCNV2 4 10 8 0 0 22
PRPF3 1 2 14 2 3 22
CACNA1F 5 8 8 0 0 21
CDH23 3 11 8 0 0 21
ZNF408 0 3 12 5 1 21
CA4 0 2 6 2 10 20
LOC122152296, USH2A 4 4 11 0 0 19
LOC126860392, RP1 2 3 9 2 3 19
OFD1 1 0 10 6 2 19
RLBP1 3 3 10 1 2 19
RPGRIP1 2 14 3 0 0 19
OTX2 0 0 13 5 0 18
ROM1 0 1 8 1 8 18
TRNT1 1 0 11 2 4 18
AHI1 2 5 10 0 0 17
BBS1 3 2 10 1 1 17
CDHR1 4 8 6 0 0 17
IFT140, LOC126862260 1 3 8 2 2 16
RGR 1 0 10 1 4 16
ZNF513 0 0 12 3 1 16
C1QTNF5, MFRP 2 6 7 0 0 15
SPP2 0 2 2 2 9 15
BBS12 2 8 4 0 0 14
CNGB3 9 2 3 0 0 14
KLHL7 1 2 7 0 4 14
MVK 0 2 6 4 2 14
NEK2 0 5 5 1 3 14
NEUROD1 0 1 10 0 1 12
RIMS1 0 0 12 0 0 12
DHDDS 0 2 8 0 1 11
GUCA1B 0 0 1 1 9 11
PDE6C 0 6 5 0 0 11
GUCA1A, GUCA1ANB-GUCA1A 2 2 6 0 0 10
IFT172, KRTCAP3 0 0 7 2 1 10
IFT172, LOC126806173 0 1 7 1 1 10
INPP5E 1 2 7 0 0 10
LRP5 2 3 5 0 0 10
NRL 0 4 5 1 0 10
RAX2 0 3 7 0 0 10
CFAP418 0 0 7 1 1 9
CLN3 2 2 5 0 0 9
DRAM2 7 1 1 0 0 9
TTLL5 1 5 3 0 0 9
ABCA4, LOC126805794 1 2 4 0 1 8
CFAP410 2 5 1 0 0 8
CTNNA1 0 1 7 0 0 8
FLVCR1 1 1 6 0 0 8
IDH3B 0 0 8 0 0 8
IFT172, LOC126806174 0 0 7 0 1 8
IQCB1 7 1 0 0 0 8
LCA5 3 5 1 0 0 8
NMNAT1 5 3 0 0 0 8
NYX 2 2 4 0 0 8
AIPL1 1 1 5 0 0 7
ARL2BP 1 1 3 1 1 7
CEP78 0 6 1 0 0 7
NPHP4 0 2 5 0 0 7
PCDH15 2 3 2 0 0 7
RP9 0 0 5 0 2 7
TRPM1 2 2 3 0 0 7
WDR19 1 1 5 0 0 7
ABHD12 1 3 2 0 0 6
ARL3 0 0 1 0 5 6
BBS10 5 1 0 0 0 6
CYGB, PRCD 4 1 0 1 0 6
DHX38, LOC126862391 0 0 4 2 0 6
EFEMP1 1 0 5 0 0 6
GPR179 1 1 4 0 0 6
KIZ, LOC130065507 0 1 3 1 1 6
LOC130055387, NRL 0 3 3 0 0 6
LOC130068202, RP2 1 2 3 0 0 6
OPA1 2 2 2 0 0 6
PDE6G 0 0 5 0 1 6
BBS4 0 2 3 0 0 5
BEST1, FTH1 1 0 1 0 4 5
BLOC1S1-RDH5, RDH5 0 1 4 0 0 5
CEP290, RLIG1 1 0 4 0 0 5
CHM, LOC129391306 1 2 1 0 1 5
COL18A1 0 5 0 0 0 5
COL2A1 1 3 1 0 0 5
PITPNM3 0 0 5 0 0 5
RS1 0 4 1 0 0 5
VCAN 1 1 3 0 0 5
ADIPOR1 0 0 2 1 1 4
ARHGEF18 0 0 4 0 0 4
ARL6 0 1 2 1 0 4
BBS7 2 2 0 0 0 4
C10orf105, CDH23 0 2 2 0 0 4
CABP4 1 3 0 0 0 4
CACNA2D4 0 0 4 0 0 4
CERKL, ITGA4 0 1 3 0 0 4
GRM6, ZNF454 1 0 3 0 0 4
HGSNAT, LOC130000316 0 2 1 1 0 4
KIF11 0 3 1 0 0 4
LOC126806272, SNRNP200 0 1 2 0 1 4
MKKS 2 1 1 0 0 4
PEX1 3 1 0 0 0 4
PHYH 1 2 1 0 0 4
PRPF4 0 0 4 0 0 4
PRPS1 0 4 0 0 0 4
RPGRIP1L 0 0 4 0 0 4
SLC24A1 1 3 0 0 0 4
SYN3, TIMP3 1 0 3 0 0 4
USH1C 1 2 1 0 0 4
BBS9 1 0 2 0 0 3
CFAP418, LOC130000784 0 0 2 0 1 3
FAM161A, LOC129933843 0 0 1 1 1 3
FZD4, PRSS23 1 0 2 0 0 3
LOC112806037, MERTK 0 0 2 1 0 3
LOC129932452, NEK2 0 0 2 0 1 3
MFSD8 0 2 1 0 0 3
OAT 0 3 0 0 0 3
RAB28 0 1 2 0 0 3
ABHD12, LOC126863008 0 1 1 0 0 2
BLOC1S1-RDH5, CD63, RDH5 1 0 1 0 0 2
CACNA1F, LOC126863257 0 1 1 0 0 2
CAPN5 0 0 2 0 0 2
CDH3 1 0 1 0 0 2
CEP164 0 1 1 0 0 2
CERKL, LOC129935214 0 1 1 0 0 2
CNNM4 1 1 0 0 0 2
COL11A2 0 1 1 0 0 2
COL18A1, SLC19A1 1 1 0 0 0 2
CYP4V2, LOC129993526 0 0 0 0 2 2
DTHD1 0 0 2 0 0 2
ELOVL4 1 0 1 0 0 2
GIGYF2, KCNJ13 0 0 2 0 0 2
GNAT1 0 1 1 0 0 2
GRM6, LOC100130798, ZNF454 0 1 1 0 0 2
HARS1 0 0 2 0 0 2
IMPDH1, LOC129999258 0 0 1 0 1 2
KIAA0586 1 0 1 0 0 2
KIZ, LOC130065509 1 0 1 0 0 2
LOC126863090, PRPF6 0 1 0 0 1 2
LOC129998225, RP9 0 0 1 0 1 2
LOC130068098, RPGR 1 1 0 0 0 2
LRP2 0 2 0 0 0 2
PAX2 0 1 1 0 0 2
PEX6 0 0 2 0 0 2
POC1B 0 1 1 0 0 2
POMGNT1 0 0 2 0 0 2
REEP6 0 0 2 0 0 2
TSPAN12 0 1 1 0 0 2
TTC21B 1 1 0 0 0 2
VPS13B 0 2 0 0 0 2
WHRN 0 0 2 0 0 2
ACO2 0 0 1 0 0 1
ATP5ME, PDE6B 1 0 0 0 0 1
ATRIP, ATRIP-TREX1, TREX1 0 1 0 0 0 1
BBS5 0 1 0 0 0 1
CC2D2A 0 1 0 0 0 1
CDH23, LOC111982869 0 1 0 0 0 1
CEP250 0 0 1 0 0 1
CFAP410, LOC130066823 1 1 0 0 0 1
CWC27 0 1 0 0 0 1
FBLN5 0 0 1 0 0 1
FLVCR1, LOC129932486 0 0 1 0 0 1
FRMD7 1 0 0 0 0 1
GATAD1, PEX1 0 1 0 0 0 1
GNAT2 0 1 0 0 0 1
GNAT2, LOC129388577 0 1 0 0 0 1
GUCA1A, GUCA1ANB-GUCA1A, GUCA1B 0 1 0 0 0 1
HK1, LOC130003980 0 0 0 1 0 1
JAG1 0 1 0 0 0 1
LOC126805613, NMNAT1 0 0 1 0 0 1
LOC126806913, OPA1 0 0 1 0 0 1
LOC129933376, ZNF513 0 0 1 0 0 1
LOC129996881, PRDM13 0 0 1 0 0 1
LOC129998224, RP9 0 0 1 0 0 1
LOC130056226, SPATA7 0 0 0 0 1 1
LOC130057872, RLBP1 0 1 0 0 0 1
LOC130063377, PNPLA6 0 0 1 0 0 1
MMACHC 0 1 0 0 0 1
PNPLA6 0 0 1 0 0 1
PRDM13 0 0 1 0 0 1
PRPF8, RILP 0 1 0 0 0 1
RIC3, TUB 0 1 0 0 0 1
TEAD3, TULP1 0 1 0 0 0 1
ZFYVE26 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 18
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Dept Of Ophthalmology, Nagoya University 207 311 1852 510 635 3515
Blueprint Genetics 789 852 1088 0 0 2729
Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals 9 87 78 0 0 174
NIHR Bioresource Rare Diseases, University of Cambridge 28 84 6 0 0 118
Illumina Laboratory Services, Illumina 0 0 37 9 0 46
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 6 9 7 0 0 22
Leeds Vision Research Group, University of Leeds 7 0 0 0 0 7
DBGen Ocular Genomics 3 3 1 0 0 7
Genetics and Molecular Pathology, SA Pathology 6 0 0 0 0 6
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 3 2 0 0 0 5
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 3 0 2 0 0 5
Ophthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel 2 1 1 0 0 4
Department of Genetics, Fundacion Jimenez Diaz University Hospital 0 1 1 0 0 2
Hardcastle Lab, UCL Institute of Ophthalmology 0 2 0 0 0 2
Institute of Human Genetics, University Hospital Muenster 2 0 0 0 0 2
Rui Chen Lab, Baylor College of Medicine 0 0 1 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 1 0 0 1

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