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
88 143 91 0 0 319

Gene and significance breakdown #

Total genes and gene combinations: 82
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
RHO 17 38 11 66
USH2A 17 9 13 37
ABCA4 3 8 2 13
PROM1 2 3 6 11
CRB1 0 4 6 10
MYO7A 3 4 3 9
CEP290 2 4 2 8
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
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
CACNA1F 0 0 2 2
CERKL 0 2 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
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
ABCA4, LOC126805793 1 0 0 1
BBS12 1 0 0 1
BBS2 1 0 0 1
BBS4 0 0 1 1
BBS5, LOC129935068 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
CEP290, LOC129390514 1 0 0 1
CERKL, LOC129935214 0 1 0 1
CHM 0 1 0 1
CNGB3 0 1 0 1
FAM161A 0 1 0 1
GNAT2, LOC129388577 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
LOC122152296, USH2A 0 1 0 1
LOC130055387, NRL 0 0 1 1
LRAT 0 1 0 1
MIR211, TRPM1 1 0 0 1
NMNAT1 0 1 0 1
NR2E3 0 0 1 1
OTX2 1 0 0 1
PEX11B 0 1 0 1
PRKAR1A 1 0 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: 43
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Condition pathogenic likely pathogenic uncertain significance total
Retinal dystrophy 9 87 78 174
Retinitis pigmentosa 4 17 38 7 62
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 1C 2 1 0 3
Severe early-childhood-onset retinal dystrophy 1 1 1 3
Usher syndrome type 1D 2 1 0 3
Usher syndrome type 3 3 0 0 3
Benign concentric annular macular dystrophy 0 2 0 2
Congenital stationary night blindness 2A 0 0 2 2
Congenital stationary night blindness autosomal dominant 1 0 1 1 2
Developmental 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
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
Cone dystrophy 3 0 0 1 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 intellectual disability 1 0 0 1
Occult macular dystrophy 0 0 1 1
Retinitis pigmentosa 18 1 0 0 1
Retinitis pigmentosa 38 1 0 0 1
Retinitis pigmentosa 41 1 0 0 1
Saldino-Mainzer syndrome 1 0 0 1
Senior-Loken syndrome 5 1 0 0 1
Senior-Loken syndrome 6; Joubert syndrome 5 1 0 0 1
Syndromic microphthalmia type 5 1 0 0 1
Usher syndrome type 1G 1 0 0 1

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