ClinVar Miner

Variants from Centre for Genomic Medicine, Manchester,Central Manchester University Hospitals

Location: United Kingdom — Primary collection method: clinical testing
Minimum submission review status: Collection method:
Minimum conflict level:
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
14 104 78 0 0 194

Gene and significance breakdown #

Total genes and gene combinations: 62
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
USH2A 2 9 13 23
ABCA4 4 8 2 14
CRB1 0 4 6 10
PROM1 1 3 6 10
PRPF31 0 5 3 8
MYO7A 1 4 3 7
RP1 0 5 2 7
CEP290 0 4 2 6
CNGB1 0 2 4 6
EYS 1 5 0 6
MERTK 1 2 3 6
RPGRIP1 0 6 0 6
PCDH15 1 3 1 5
RPGR 1 1 2 4
ADGRV1 0 3 0 3
CERKL 0 3 0 3
CNGA1, LOC101927157 0 1 2 3
CNGA3 0 1 2 3
CRX 0 2 1 3
IMPG2 0 3 0 3
PDE6B 0 3 0 3
PRPF8 0 1 2 3
GPHN, RDH12 0 1 1 2
GPHN, RDH12, ZFYVE26 0 0 2 2
GUCY2D 0 1 1 2
LRP5 0 0 2 2
PDE6A 0 0 2 2
PDE6C 0 0 2 2
RBP3 0 2 0 2
RP2 0 1 1 2
SNRNP200 0 0 2 2
SPATA7 0 1 1 2
VPS13B 0 2 0 2
WHRN 0 0 2 2
BBS1, ZDHHC24 1 0 0 1
BBS4 0 0 1 1
BBS7 0 1 0 1
BCOR 0 1 0 1
BEST1 0 1 0 1
BLOC1S1-RDH5, RDH5 0 0 1 1
CDH23 0 0 1 1
CDH23, LOC111982869 0 1 0 1
CDHR1 0 1 0 1
CDKL5, RS1 1 0 0 1
CHM 0 1 0 1
CLRN1 0 1 0 1
CNGB3 0 1 0 1
FAM161A 0 1 0 1
FZD4, PRSS23 0 0 1 1
KCNV2 0 1 0 1
LCA5 0 1 0 1
LOC102723833, USH2A 0 1 0 1
LRAT 0 1 0 1
NMNAT1 0 1 0 1
NR2E3 0 0 1 1
NRL 0 0 1 1
PEX11B 0 1 0 1
PTS 0 1 0 1
RPE65 0 0 1 1
TOPORS 0 1 0 1
TRPM1 0 1 0 1
USH1C 0 0 1 1

Condition and significance breakdown #

Total conditions: 14
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Condition pathogenic likely pathogenic uncertain significance total
Retinal dystrophy 9 87 78 174
Usher syndrome, type 2A 1 3 0 4
Bull's eye maculopathy 0 2 0 2
Congenital cataract 0 2 0 2
Retinitis pigmentosa 19 1 1 0 2
Retinitis pigmentosa 40 0 2 0 2
Stargardt disease 1 1 1 0 2
Usher syndrome, type 1 1 1 0 2
Usher syndrome, type 1D 1 1 0 2
Usher syndrome, type 2C 0 2 0 2
Congenital stationary night blindness, type 1C 0 1 0 1
Leber congenital amaurosis 0 1 0 1
Metabolic disease 0 1 0 1
Retinitis pigmentosa 38 1 0 0 1

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