ClinVar Miner

Variants from Ocular Genomics Institute, Massachusetts Eye and Ear

Location: United States  Primary collection method: research
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
148 214 173 2 2 538

Gene and significance breakdown #

Total genes and gene combinations: 97
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
USH2A 19 39 35 0 1 94
EYS 17 11 5 0 0 33
ABCA4 14 7 6 0 0 27
CRB1 2 7 11 1 0 21
INPP5E 0 11 8 0 0 19
RHO 7 4 8 0 0 19
GPHN, RDH12 4 9 1 0 0 14
PRPF31 0 12 2 0 0 14
CNGB1 5 6 1 0 0 12
PDE6B 3 3 6 0 0 12
ADGRV1 1 2 7 0 0 10
CDH23 0 0 10 0 0 10
CEP290 6 4 0 0 0 10
CFAP410 3 6 1 0 0 10
EYS, PHF3 2 3 5 0 0 10
RP1 3 7 0 0 0 10
RPE65 4 3 3 0 0 10
PDE6A 3 4 2 0 0 9
RPGR 2 5 2 0 0 9
TULP1 1 5 3 0 0 9
CERKL 4 2 1 0 0 7
CNGA1, LOC101927157 2 2 2 0 0 6
BEST1 1 0 4 0 0 5
GPHN, RDH12, ZFYVE26 2 3 1 0 0 5
NR2E3 1 4 0 0 0 5
PRPF8 0 1 4 0 0 5
AHI1 2 2 0 0 0 4
ALMS1 0 3 1 0 0 4
GUCY2D 1 1 2 0 0 4
IQCB1 3 1 0 0 0 4
MAK 1 2 1 0 0 4
MERTK 2 2 0 0 0 4
VPS13B 0 2 2 0 0 4
AIPL1 1 2 0 0 0 3
CLN3 1 1 1 0 0 3
DHDDS 1 0 2 0 0 3
FAM161A 3 0 0 0 0 3
IFT140, LOC105371046 1 0 2 0 0 3
IMPG2 1 1 1 0 0 3
PCARE 0 3 0 0 0 3
RP2 0 2 1 0 0 3
SNRNP200 1 1 1 0 0 3
WDR19 1 0 2 0 0 3
ABCA4, LOC126805793 1 1 0 0 0 2
ABCA4, LOC126805794 1 0 1 0 0 2
ADAM9 0 1 1 0 0 2
BBS1 0 0 1 0 1 2
BBS1, ZDHHC24 2 0 0 0 0 2
BBS2 0 1 1 0 0 2
CC2D2A 0 1 1 0 0 2
CDKL5, RS1 0 2 0 0 0 2
CEP78 0 2 0 0 0 2
CERKL, LOC129935214 0 2 0 0 0 2
CFAP410, LOC130066823 0 1 1 0 0 2
CLRN1 2 0 0 0 0 2
CNGB3 1 1 0 0 0 2
CYP4V2 2 0 0 0 0 2
ERCC6 0 0 2 0 0 2
FLVCR1 0 2 0 0 0 2
IFT122 0 1 0 1 0 2
IFT172 0 1 1 0 0 2
IFT88 0 1 1 0 0 2
KCNV2 0 1 1 0 0 2
LCA5 1 1 0 0 0 2
MYO7A 2 0 0 0 0 2
NPHP4 0 0 2 0 0 2
NRL 0 2 0 0 0 2
PNPLA6 1 0 1 0 0 2
PROM1 1 0 1 0 0 2
RBP3 1 1 0 0 0 2
RIC3, TUB 1 0 1 0 0 2
RPGRIP1 0 1 1 0 0 2
RPGRIP1L 0 0 2 0 0 2
TOPORS 0 1 1 0 0 2
ATP5ME, MYL5, PDE6B, SLC49A3 1 0 0 0 0 1
C10orf105, CDH23 0 0 1 0 0 1
CDH23, LOC111982869 0 1 0 0 0 1
CDHR1 0 1 0 0 0 1
CEP290, LOC129390514 0 1 0 0 0 1
CHM 0 1 0 0 0 1
COL2A1 0 1 0 0 0 1
GRM6, LOC100130798, ZNF454 0 0 1 0 0 1
IFT172, LOC126806174 0 0 1 0 0 1
IMPDH1 1 0 0 0 0 1
JAG1 0 1 0 0 0 1
KIZ, LOC130065509 1 0 0 0 0 1
KLHL7 0 0 1 0 0 1
LOC112806037, MERTK 1 0 0 0 0 1
LOC122152296, USH2A 0 0 1 0 0 1
LOC126860392, RP1 1 0 0 0 0 1
LRAT 0 0 1 0 0 1
MT-ATP6, MT-ATP8, MT-CO1, MT-CO2, MT-CO3, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-TA, MT-TC, MT-TD, MT-TG, MT-TH, MT-TI, MT-TK, MT-TM, MT-TN, MT-TQ, MT-TR, MT-TS1, MT-TS2, MT-TW, MT-TY 1 0 0 0 0 1
NMNAT1 0 0 1 0 0 1
PRPF6 0 0 1 0 0 1
PRPH2 0 1 0 0 0 1
REEP6 0 0 1 0 0 1
SPATA7 1 0 0 0 0 1

Condition and significance breakdown #

Total conditions: 79
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Retinitis pigmentosa 39 19 39 36 0 1 95
Retinitis pigmentosa 25 19 14 10 0 0 43
Severe early-childhood-onset retinal dystrophy 16 8 7 0 0 31
Rod-cone dystrophy 4 15 10 1 0 30
Retinitis pigmentosa 12 2 7 11 1 0 21
Retinitis pigmentosa 4 7 4 8 0 0 19
Retinitis pigmentosa 11 0 12 2 0 0 14
Retinitis pigmentosa 40 4 3 6 0 0 13
Leber congenital amaurosis 13 4 6 2 0 0 12
Retinal dystrophy with or without macular staphyloma 3 7 2 0 0 12
Retinitis pigmentosa 45 5 6 1 0 0 12
Usher syndrome type 1D 0 1 11 0 0 12
Leber congenital amaurosis 10 6 5 0 0 0 11
Retinitis pigmentosa 1 4 7 0 0 0 11
Retinitis pigmentosa 20 4 3 3 0 0 10
Usher syndrome type 2C 1 2 7 0 0 10
Retinitis pigmentosa 14 1 5 3 0 0 9
Retinitis pigmentosa 26 4 4 1 0 0 9
Retinitis pigmentosa 3 2 5 2 0 0 9
Retinitis pigmentosa 43 3 4 2 0 0 9
Macular dystrophy 2 4 0 0 0 6
Retinitis pigmentosa 49 2 2 2 0 0 6
Retinitis pigmentosa 13 0 1 4 0 0 5
Retinitis pigmentosa 37 1 4 0 0 0 5
Retinitis pigmentosa 38 3 2 0 0 0 5
Vitelliform macular dystrophy 2 1 0 4 0 0 5
Alstrom syndrome 0 3 1 0 0 4
Bardet-Biedl syndrome 1 2 0 1 0 1 4
Cohen syndrome 0 2 2 0 0 4
Leber congenital amaurosis 1 1 1 2 0 0 4
Retinitis pigmentosa 62 1 2 1 0 0 4
Senior-Loken syndrome 5 3 1 0 0 0 4
Leber congenital amaurosis 4 1 2 0 0 0 3
Neuronal ceroid lipofuscinosis 3 1 1 1 0 0 3
Retinitis pigmentosa 1 2 0 0 0 3
Retinitis pigmentosa 2 0 2 1 0 0 3
Retinitis pigmentosa 28 3 0 0 0 0 3
Retinitis pigmentosa 33 1 1 1 0 0 3
Retinitis pigmentosa 54 0 3 0 0 0 3
Retinitis pigmentosa 56 1 1 1 0 0 3
Retinitis pigmentosa 59 1 0 2 0 0 3
Retinitis pigmentosa 71 0 1 2 0 0 3
Retinitis pigmentosa 80 1 0 2 0 0 3
Senior-Loken syndrome 8 1 0 2 0 0 3
Achromatopsia 3 1 1 0 0 0 2
Bietti crystalline corneoretinal dystrophy 2 0 0 0 0 2
Cockayne syndrome type 2 0 0 2 0 0 2
Cone dystrophy with supernormal rod response 0 1 1 0 0 2
Cone-rod dystrophy 9 0 1 1 0 0 2
Cone-rod dystrophy and hearing loss 1 0 2 0 0 0 2
Joubert syndrome 7 0 0 2 0 0 2
Joubert syndrome 9 0 1 1 0 0 2
Juvenile retinoschisis 0 2 0 0 0 2
Leber congenital amaurosis 5 1 1 0 0 0 2
Leber congenital amaurosis 6 0 1 1 0 0 2
Posterior column ataxia-retinitis pigmentosa syndrome 0 2 0 0 0 2
Retinal dystrophy and obesity 1 0 1 0 0 2
Retinitis pigmentosa 27 0 2 0 0 0 2
Retinitis pigmentosa 31 0 1 1 0 0 2
Retinitis pigmentosa 41 1 0 1 0 0 2
Retinitis pigmentosa 66 1 1 0 0 0 2
Retinitis pigmentosa 74 0 1 1 0 0 2
Senior-Loken syndrome 4 0 0 2 0 0 2
Usher syndrome type 1 2 0 0 0 0 2
Usher syndrome type 3A 2 0 0 0 0 2
Alagille syndrome due to a JAG1 point mutation 0 1 0 0 0 1
Choroideremia 0 1 0 0 0 1
Cone-rod dystrophy 15 0 1 0 0 0 1
Congenital stationary night blindness 1B 0 0 1 0 0 1
Leber congenital amaurosis 14 0 0 1 0 0 1
Leber congenital amaurosis 3 1 0 0 0 0 1
Leber congenital amaurosis 9 0 0 1 0 0 1
Patterned macular dystrophy 1 0 1 0 0 0 1
Retinitis pigmentosa 10 1 0 0 0 0 1
Retinitis pigmentosa 42 0 0 1 0 0 1
Retinitis pigmentosa 60 0 0 1 0 0 1
Retinitis pigmentosa 69 1 0 0 0 0 1
Retinitis pigmentosa 77 0 0 1 0 0 1
Stickler syndrome, type I, nonsyndromic ocular 0 1 0 0 0 1

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