ClinVar Miner

Variants from Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg

Location: Germany  Primary collection method: clinical testing
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:

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
1580 854 2730 79 13 5255

Gene and significance breakdown #

Total genes and gene combinations: 365
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
ABCA4 162 172 98 16 0 448
USH2A 99 72 105 10 1 287
RPGR 99 16 44 1 1 161
BEST1 58 52 18 3 0 131
EYS 51 11 59 0 0 121
OPA1 67 24 17 0 0 108
PRPH2 50 36 11 1 0 98
CEP290 39 1 36 0 1 77
CDKL5, RS1 56 16 2 0 1 75
RHO 27 26 18 1 0 72
CRB1 18 31 22 0 0 71
RP1 22 6 37 0 0 65
GUCY2D 18 13 29 2 1 63
MYO7A 22 18 19 1 1 61
PRPF31 36 9 12 1 0 58
CHM 51 2 4 0 0 57
PROM1 23 4 30 0 0 57
RP1L1 5 2 49 1 0 57
CDH23 8 10 36 0 0 54
IMPG2 13 11 30 0 0 54
ALMS1 13 1 34 1 0 49
PDE6B 14 18 15 1 0 48
CNGB1 12 3 29 2 1 47
ADGRV1 15 3 28 0 0 46
PDE6A 10 5 27 4 0 46
WFS1 7 10 27 0 0 44
CNGA3 20 13 7 1 0 41
CNGB3 16 2 20 0 0 38
MERTK 14 2 22 0 0 38
RPE65 13 6 18 1 0 38
RPGRIP1 8 3 24 2 1 38
CDHR1 3 6 28 0 0 37
NR2E3 11 9 13 0 0 33
RBP3 2 1 30 0 0 33
TULP1 8 12 13 0 0 33
DYNC2H1 1 1 30 0 0 32
SNRNP200 2 3 26 1 0 32
CACNA1F 8 3 18 1 1 31
PCARE 12 3 16 0 0 31
CYP4V2 12 1 15 0 0 28
LRP5 4 10 13 0 0 27
ABCA4, LOC126805793 13 6 7 1 0 26
AP5Z1 4 0 21 0 0 25
KCNV2 7 7 11 0 0 25
C1QTNF5, MFRP 6 1 17 0 0 24
GPR179 2 1 17 4 0 24
IMPDH1 0 6 14 3 0 23
RP2 16 5 2 0 0 23
SEMA4A 0 0 22 1 0 23
TTLL5 5 2 16 0 0 23
CERKL 11 1 9 0 1 22
PRPF8 0 9 12 1 0 22
ADGRA3 0 0 20 1 0 21
AGBL5 2 1 17 1 0 21
CRX 5 4 10 1 1 21
LAMA1 2 0 19 0 0 21
AIPL1 1 3 13 3 0 20
IFT140 3 4 13 0 0 20
TUBGCP6 1 0 19 0 0 20
CC2D2A 5 3 11 0 0 19
CEP78 7 2 10 0 0 19
EYS, PHF3 6 8 5 0 0 19
GPHN, RDH12 7 3 9 0 0 19
IFT172 1 1 16 1 0 19
PDE6C 6 4 9 0 0 19
TOPORS 3 0 15 1 0 19
TRPM1 3 6 10 0 0 19
ZNF408 3 2 14 0 0 19
CDH3 7 2 9 0 0 18
CEP250 2 0 16 0 0 18
NAALADL1 0 1 17 0 0 18
CFAP410 4 2 11 0 0 17
HGSNAT 5 3 9 0 0 17
NBAS 1 0 16 0 0 17
NPHP4 1 0 16 0 0 17
SEMA6B 0 0 17 0 0 17
ABCA4, LOC126805794 5 5 6 0 0 16
CABP4 2 0 14 0 0 16
CNGA1, LOC101927157 6 1 8 1 0 16
FAM161A 5 2 9 0 0 16
IFT140, LOC105371046 2 2 12 0 0 16
KIAA1549 0 0 16 0 0 16
MAK 3 8 5 0 0 16
NDP 13 2 1 0 0 16
RIMS1 0 0 16 0 0 16
RS1 15 1 0 0 0 16
SCAPER 0 0 16 0 0 16
ABCC6 4 1 10 0 0 15
BBS2 5 1 9 0 0 15
CACNA2D4 2 1 12 0 0 15
IMPG1 3 1 11 0 0 15
PCDH15 2 0 13 0 0 15
POMGNT1, TSPAN1 4 0 11 0 0 15
SPATA7 7 0 8 0 0 15
AHI1 3 1 10 0 0 14
CFH 3 0 11 0 0 14
EMC1 2 0 12 0 0 14
POC1B 3 0 11 0 0 14
SAMD11 0 0 14 0 0 14
SLC7A14 0 0 14 0 0 14
CAPN5 0 0 13 0 0 13
CLRN1 1 2 10 0 0 13
ESPN 0 1 12 0 0 13
ARHGEF18 1 0 11 0 0 12
BBS1 5 2 5 0 0 12
BBS9 5 0 7 0 0 12
IDH3B 0 0 12 0 0 12
MFSD8 4 3 5 0 0 12
NYX 6 4 2 0 0 12
VCAN 0 0 12 0 0 12
WDR19 0 1 11 0 0 12
ACO2 3 0 8 0 0 11
BBS1, ZDHHC24 5 0 6 0 0 11
GRK1 1 2 8 0 0 11
HK1 0 2 9 0 0 11
INPP5E 1 0 9 1 0 11
ROM1 0 0 10 1 0 11
USP45 0 0 11 0 0 11
BBS10 7 1 2 0 0 10
CLN3 5 2 3 0 0 10
CWC27 1 0 9 0 0 10
DHX38 0 0 10 0 0 10
FZD4, PRSS23 1 3 6 0 0 10
GUCA1A, GUCA1ANB-GUCA1A 4 5 1 0 0 10
LCA5 4 0 6 0 0 10
NPHP1 1 1 8 0 0 10
PROS1 0 0 9 1 0 10
PRPF3 2 0 7 1 0 10
RPGRIP1L 0 0 10 0 0 10
C3 0 0 8 1 0 9
CEP164 1 0 8 0 0 9
CNNM4 4 2 3 0 0 9
CSPP1 0 0 9 0 0 9
FLVCR1 1 1 7 0 0 9
KIF11 3 1 5 0 0 9
LOC126860392, RP1 0 1 8 0 0 9
OAT 5 0 4 0 0 9
PEX1 4 0 5 0 0 9
PHYH 2 0 7 0 0 9
PITPNM3 0 0 9 0 0 9
RCBTB1 1 1 7 0 0 9
SAG 1 0 7 1 0 9
SLC24A1 3 0 6 0 0 9
SPG7 3 1 5 0 0 9
SYN3, TIMP3 4 2 3 0 0 9
TRNT1 5 1 3 0 0 9
TTC8 3 1 4 0 1 9
USH1C 3 0 6 0 0 9
WHRN 0 0 9 0 0 9
ADAMTS18 0 0 8 0 0 8
ATF6 2 1 5 0 0 8
COL11A1 0 0 8 0 0 8
COL2A1 2 0 6 0 0 8
EFEMP1 1 0 6 1 0 8
GNAT1 0 0 8 0 0 8
GNAT2 2 1 5 0 0 8
IFT81 2 0 6 0 0 8
LOC122152296, USH2A 2 2 4 0 0 8
PDZD7 1 0 7 0 0 8
PNPLA6 2 1 5 0 0 8
RAX2 0 0 8 0 0 8
RGR 0 1 7 0 0 8
RGS9 0 1 7 0 0 8
SCLT1 0 0 8 0 0 8
ACO2, POLR3H 2 1 4 0 0 7
ARL6 3 2 2 0 0 7
COL9A1 0 1 6 0 0 7
GUCA1B 0 0 7 0 0 7
IQCB1 6 0 1 0 0 7
KIF3B 0 0 6 1 0 7
LRAT 3 1 3 0 0 7
MVK 3 1 3 0 0 7
NPHP3, NPHP3-ACAD11 1 0 6 0 0 7
PRDM13 0 0 7 0 0 7
RAB28 2 0 5 0 0 7
REEP6 1 1 5 0 0 7
RLBP1 1 2 4 0 0 7
USH1G 0 0 7 0 0 7
BBS7 3 1 2 0 0 6
DHDDS 0 0 6 0 0 6
DYNC2I2 0 0 6 0 0 6
GRM6, ZNF454 2 1 3 0 0 6
INVS 0 0 6 0 0 6
KLHL7 2 1 3 0 0 6
MCAT 0 0 6 0 0 6
MFN2 0 0 6 0 0 6
MKKS 2 0 4 0 0 6
MKS1 0 0 6 0 0 6
PRPF31, TFPT 6 0 0 0 0 6
PRPF4 0 1 5 0 0 6
PRPF6 0 0 6 0 0 6
TSPAN12 2 3 1 0 0 6
ZNF423 0 0 6 0 0 6
AHR 0 0 5 0 0 5
ASTN2, TRIM32 1 0 4 0 0 5
ATXN7, LOC108660406, LOC129936979 0 0 5 0 0 5
BBS4 1 1 3 0 0 5
CFAP418 1 1 3 0 0 5
CTNNA1 0 1 4 0 0 5
DTHD1 0 0 5 0 0 5
FBLN5 0 0 5 0 0 5
MIEF1 0 0 5 0 0 5
NEK2 0 1 4 0 0 5
NMNAT1 2 2 1 0 0 5
NRL 2 2 1 0 0 5
POC5 0 0 5 0 0 5
RD3 2 0 3 0 0 5
RTN4IP1 2 0 3 0 0 5
TTPA 2 0 3 0 0 5
ZNF513 1 0 4 0 0 5
ADAM9 1 1 2 0 0 4
BEST1, FTH1 2 2 0 0 0 4
BLOC1S1-RDH5, CD63, RDH5 2 2 0 0 0 4
C10orf105, CDH23 1 1 2 0 0 4
CHM, LOC129391306 3 0 1 0 0 4
DRAM2 0 1 3 0 0 4
ELOVL4 0 0 4 0 0 4
GNPTG 2 0 2 0 0 4
GRM6 0 0 4 0 0 4
HMX1 0 0 4 0 0 4
IFT140, LOC126862260 0 1 3 0 0 4
IFT172, KRTCAP3 0 1 3 0 0 4
IMPDH1, LOC129999258 0 0 4 0 0 4
KIZ 1 0 3 0 0 4
LOC126806913, OPA1 2 0 2 0 0 4
LOC130068202, RP2 3 0 1 0 0 4
PAX2 1 0 3 0 0 4
PLK4 0 0 4 0 0 4
POMGNT1 0 0 4 0 0 4
RB1 0 0 4 0 0 4
RBP4 1 1 2 0 0 4
RP9 0 0 3 0 1 4
SLC4A7 0 0 4 0 0 4
TUBGCP4 0 0 4 0 0 4
WDPCP 0 0 4 0 0 4
ABHD12, LOC130065586 0 0 3 0 0 3
ADIPOR1 0 0 3 0 0 3
ALMS1, LOC126806252 0 0 3 0 0 3
ATRIP, ATRIP-TREX1, TREX1 0 0 3 0 0 3
BBS12 3 0 0 0 0 3
BBS5 1 0 2 0 0 3
CCT2 0 0 3 0 0 3
CERKL, ITGA4 0 2 1 0 0 3
CLUAP1 0 0 3 0 0 3
FDXR 0 0 3 0 0 3
GDF6 0 0 3 0 0 3
GIGYF2, KCNJ13 0 0 3 0 0 3
IDH3A 1 0 2 0 0 3
IFT172, LOC126806173 0 0 3 0 0 3
IFT74 0 0 3 0 0 3
JAG1 0 0 3 0 0 3
LOC112806037, MERTK 1 1 1 0 0 3
LRIT3 0 0 3 0 0 3
MT-ND1 1 0 2 0 0 3
NR2F1 1 1 1 0 0 3
OTX2 0 0 3 0 0 3
PCYT1A 0 0 3 0 0 3
PEX26 0 0 3 0 0 3
RIC3, TUB 0 0 3 0 0 3
SDCCAG8 0 0 3 0 0 3
SLC25A46 0 0 3 0 0 3
SPP2 0 0 3 0 0 3
ABHD12 0 0 2 0 0 2
AFG3L2 0 0 2 0 0 2
ARL2BP 0 0 2 0 0 2
ARL3 0 0 2 0 0 2
ARSG 0 0 2 0 0 2
ASRGL1 0 0 2 0 0 2
ATXN7 0 0 2 0 0 2
CACNA1F, LOC126863257 2 0 0 0 0 2
CACNG2-DT, IFT27 0 0 2 0 0 2
CEP290, RLIG1 0 1 1 0 0 2
CIB2 0 1 1 0 0 2
DNAJC30, LOC129998603 1 1 0 0 0 2
DYNC2I2, LOC126860772 0 0 2 0 0 2
FZD4 1 0 1 0 0 2
GPHN, RDH11 1 0 1 0 0 2
LOC111828517, RAB28 0 1 1 0 0 2
LOC126806306, NPHP1 1 0 1 0 0 2
LOC126806932, PCYT1A 0 0 2 0 0 2
LOC126862088, TRPM1 0 0 2 0 0 2
LOC126862183, SCAPER 0 0 2 0 0 2
LOC129996881, PRDM13 0 0 1 1 0 2
LOC130008357, POC1B, POC1B-GALNT4 0 1 1 0 0 2
OFD1 0 0 2 0 0 2
PANK2 1 0 1 0 0 2
PDE6H 1 0 1 0 0 2
PEX7 0 1 1 0 0 2
PRPS1 0 0 2 0 0 2
RGS9BP 0 0 2 0 0 2
SSBP1 0 0 2 0 0 2
TMEM216 0 0 2 0 0 2
TUB 0 0 2 0 0 2
YME1L1 0 0 2 0 0 2
ABCA4, LOC122094876, LOC126805793, LOC126805794, LOC126805795 1 0 0 0 0 1
ABCC6, LOC125146421 1 0 0 0 0 1
ABHD12, LOC126863008 0 0 1 0 0 1
ACBD5 0 0 1 0 0 1
ACBD5, LOC130003557 0 0 1 0 0 1
ARFGEF1, CSPP1 0 0 1 0 0 1
ARID5A, CNNM4, FER1L5, ITPRIPL1, KANSL3, LMAN2L, LOC105373496, LOC112841608, LOC126806272, LOC126806273, LOC126806274, LOC129934338, LOC129934339, LOC129934340, LOC129934341, LOC129934342, LOC129934343, LOC129934344, LOC129934345, LOC129934346, LOC129934347, LOC129934348, LOC129934349, LOC129934350, LOC129934351, LOC129934352, LOC129934353, LOC129934354, LOC129934355, LOC129934356, LOC129934357, LOC129934358, LOC129934359, LOC129934360, LOC129934361, LOC129934362, LOC129934363, LOC129934364, MIR3127, NCAPH, NEURL3, SNRNP200 1 0 0 0 0 1
BBS10, OSBPL8 1 0 0 0 0 1
BBS7, LOC129993036 0 0 1 0 0 1
BLOC1S1-RDH5, RDH5 0 1 0 0 0 1
CCDC51 0 0 1 0 0 1
CCDC51, LOC126806676 0 0 1 0 0 1
CDH3, LOC128822932 1 0 0 0 0 1
CEP19 0 0 1 0 0 1
CERKL, LOC129935214 1 0 0 0 0 1
CERKL, LOC129935215 0 0 1 0 0 1
CFAP410, LOC130066823 1 0 0 0 0 1
CFAP418, LOC130000784 0 0 1 0 0 1
CHM, LOC129391306, LOC129391307, MIR361 1 0 0 0 0 1
CIB2, LOC130057683 0 0 1 0 0 1
CLCC1 0 0 1 0 0 1
COL11A1, LOC126805814 0 0 1 0 0 1
CYGB, PRCD 1 0 0 0 0 1
DHX38, LOC126862391 0 0 1 0 0 1
DNAJC30 0 0 1 0 0 1
DNM1L 0 0 1 0 0 1
ELOVL1 0 0 1 0 0 1
EXOSC2 0 0 1 0 0 1
FLVCR1, LOC129932486 0 0 1 0 0 1
GATAD1, PEX1 0 0 1 0 0 1
GNB3 0 0 1 0 0 1
GNPTG, LOC130058158 0 0 1 0 0 1
HARS1 0 0 1 0 0 1
HARS1, HARS2, LOC119407423 0 0 1 0 0 1
IDH3A, LOC130057684 0 0 1 0 0 1
IFT172, LOC126806174 0 0 1 0 0 1
IFT27, LOC130067336 0 0 1 0 0 1
ITM2B 0 0 1 0 0 1
KCNV2, LOC124210607 1 0 0 0 0 1
KIZ, LOC130065509 1 0 0 0 0 1
LOC111365204, PRDM13 1 0 0 0 0 1
LOC112806037, LOC122817727, MERTK 1 0 0 0 0 1
LOC121627850, SEMA6B 0 0 1 0 0 1
LOC121815974, OAT 0 0 1 0 0 1
LOC124421495, TEAD1 0 0 1 0 0 1
LOC126806913, LOC129389190, OPA1 1 0 0 0 0 1
LOC129932452, NEK2 0 0 1 0 0 1
LOC129933155, NBAS 0 0 1 0 0 1
LOC129937586, NPHP3, NPHP3-ACAD11 0 0 1 0 0 1
LOC129993054, PLK4 0 0 1 0 0 1
LOC130055387, NRL 0 0 1 0 0 1
LOC130059818, SPG7 0 0 1 0 0 1
LOC130061461, RGS9 0 1 0 0 0 1
LOC130064709, OPA3 0 0 1 0 0 1
LOC130065345, PANK2 1 0 0 0 0 1
LOC130067629, MCAT 0 0 1 0 0 1
LOC130068098, RPGR 1 0 0 0 0 1
LZTFL1 0 0 1 0 0 1
MAPKAPK3 0 0 1 0 0 1
MCOLN1 0 0 1 0 0 1
MIR211, TRPM1 1 0 0 0 0 1
MT-ND4 1 0 0 0 0 1
MT-ND6 1 0 0 0 0 1
MTPAP 0 0 1 0 0 1
MTRFR 0 1 0 0 0 1
NDUFS2 0 0 1 0 0 1
PDE6G 1 0 0 0 0 1
PGK1 0 0 1 0 0 1
PRPH2, UBR2 1 0 0 0 0 1
TEAD1 0 0 1 0 0 1
TMEM237 0 0 1 0 0 1

Condition and significance breakdown #

Total conditions: 5
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Retinal dystrophy 1493 812 2479 78 12 4874
Optic atrophy 99 48 291 3 1 442
Severe early-childhood-onset retinal dystrophy 57 56 15 0 0 128
Leber congenital amaurosis 10 1 0 0 0 0 1
Usher syndrome type 2A 0 1 0 0 0 1

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