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
71 105 78 0 0 251

Gene and significance breakdown #

Total genes and gene combinations: 77
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
USH2A 16 9 13 36
ABCA4 4 8 2 14
PROM1 2 3 6 11
CRB1 0 4 6 10
CEP290 3 4 2 9
MYO7A 3 4 3 9
PRPF31 0 5 3 8
ADGRV1 3 4 0 7
RP1 0 5 2 7
CNGB1 0 2 4 6
EYS 2 4 0 6
MERTK 1 2 3 6
PCDH15 2 3 1 6
RPGRIP1 0 6 0 6
VPS13B 4 2 0 6
CLRN1 3 1 0 4
CNGA3 1 1 2 4
RPGR 1 1 2 4
BBS1, ZDHHC24 3 0 0 3
CERKL 0 3 0 3
CNGA1, LOC101927157 0 1 2 3
CRX 0 2 1 3
IMPG2 0 3 0 3
MVK 3 0 0 3
PDE6B 0 3 0 3
PRPF8 0 1 2 3
BBS7 1 1 0 2
EYS, PHF3 1 1 0 2
FZD4, PRSS23 1 0 1 2
GPHN, RDH12 0 1 1 2
GPHN, RDH12, ZFYVE26 0 0 2 2
GUCY2D 0 1 1 2
LOC102723833, USH2A 1 1 0 2
LRP5 0 0 2 2
NPHP4 2 0 0 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
TRPM1 1 1 0 2
WHRN 0 0 2 2
BBS12 1 0 0 1
BBS2 1 0 0 1
BBS4 0 0 1 1
BBS5 1 0 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
CNGB3 0 1 0 1
FAM161A 0 1 0 1
FAM20A, PRKAR1A 1 0 0 1
GNAT2 1 0 0 1
IFT140, LOC105371046 1 0 0 1
IQCB1 1 0 0 1
KCNV2 0 1 0 1
KIF11 1 0 0 1
LCA5 0 1 0 1
LRAT 0 1 0 1
MIR211, TRPM1 1 0 0 1
NMNAT1 0 1 0 1
NR2E3 0 0 1 1
NRL 0 0 1 1
OTX2 1 0 0 1
PEX11B 0 1 0 1
PRPF3 1 0 0 1
PTS 0 1 0 1
RPE65 0 0 1 1
TOPORS 0 1 0 1
USH1C 0 0 1 1
USH1G 1 0 0 1

Condition and significance breakdown #

Total conditions: 38
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Condition pathogenic likely pathogenic uncertain significance total
Retinal dystrophy 9 87 78 174
Usher syndrome, type 2A 17 3 0 20
Usher syndrome, type 2C 3 3 0 6
Cohen syndrome 4 0 0 4
Usher syndrome, type 1 3 1 0 4
Bardet-Biedl syndrome 1 3 0 0 3
Congenital stationary night blindness, type 1C 2 1 0 3
Usher syndrome, type 1D 2 1 0 3
Usher syndrome, type 3A 3 0 0 3
Bull's eye maculopathy 0 2 0 2
Congenital cataract 0 2 0 2
Hyperimmunoglobulin D with periodic fever 2 0 0 2
Retinitis pigmentosa 19 1 1 0 2
Retinitis pigmentosa 25 2 0 0 2
Retinitis pigmentosa 40 0 2 0 2
Senior-Loken syndrome 4 2 0 0 2
Senior-Loken syndrome 6 2 0 0 2
Stargardt disease 1 1 1 0 2
Achromatopsia 2 1 0 0 1
Achromatopsia 4 1 0 0 1
Acrodysostosis 1 with or without hormone resistance 1 0 0 1
Atrophia bulborum hereditaria 1 0 0 1
Bardet-Biedl syndrome 12 1 0 0 1
Bardet-Biedl syndrome 2 1 0 0 1
Bardet-Biedl syndrome 5 1 0 0 1
Bardet-Biedl syndrome 7 1 0 0 1
Leber congenital amaurosis 0 1 0 1
Metabolic disease 0 1 0 1
Mevalonic aciduria 1 0 0 1
Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation 1 0 0 1
Microphthalmia syndromic 5 1 0 0 1
Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia 1 0 0 1
Retinitis pigmentosa 18 1 0 0 1
Retinitis pigmentosa 38 1 0 0 1
Retinitis pigmentosa 41 1 0 0 1
Senior-Loken syndrome 5 1 0 0 1
Senior-Loken syndrome 6; Joubert syndrome 5 1 0 0 1
Usher syndrome, type 1G 1 0 0 1

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