Variants from SN ONGC Dept of Genetics and Molecular biology Vision Research Foundation

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		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	not provided	total
99	52	53	0	0	9	212

Gene and significance breakdown #

Total genes and gene combinations: 61

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	not provided	total
USH2A	24	12	3	0	39
MYO7A	12	4	0	0	16
BBS10	10	1	3	0	13
BBS12	8	1	2	0	11
CDH23	4	6	1	0	11
ADGRV1	6	1	0	0	7
CDKL5, RS1	0	0	7	0	7
MKKS	2	1	4	0	7
BBS5	3	1	1	0	5
BBS7	2	0	3	0	5
C1QTNF5, MFRP	0	0	0	5	5
NPHP4	0	0	5	0	5
PCDH15	3	2	0	0	5
BBS1, ZDHHC24	1	3	0	0	4
BBS2	3	0	1	0	4
USH1C	2	2	0	0	4
ALMS1	1	1	1	0	3
BBS1	3	0	0	0	3
BBS9	2	0	1	0	3
TTC8	2	0	1	0	3
ARL6	1	1	0	0	2
ASTN2, TRIM32	0	2	0	0	2
BBS4	1	1	0	0	2
IFT172	0	1	1	0	2
IFT172, LOC126806173	0	1	1	0	2
MKS1	0	0	2	0	2
PDE6A	0	0	2	0	2
PDZD7	2	0	0	0	2
RPGRIP1	0	0	2	0	2
TSC2	0	0	0	2	2
USH1G	1	1	0	0	2
ARL6IP6, LOC129934936	0	1	0	0	1
BBS10, OSBPL8	1	0	0	0	1
BBS5, LOC129935068	0	0	1	0	1
C10orf105, CDH23	0	1	0	0	1
CABP4	0	1	0	0	1
CACNG2-DT, IFT27	0	0	1	0	1
CCDC40	0	1	0	0	1
CLRN1	0	1	0	0	1
COL4A4	0	0	1	0	1
COMT	1	0	0	0	1
DGKQ, LOC129991967	0	0	1	0	1
FMC1, FMC1-LUC7L2, LUC7L2	0	1	0	0	1
GLI2	0	0	1	0	1
HDAC6	0	0	1	0	1
IQCB1	0	1	0	0	1
LOC126806529, PAX3	0	0	1	0	1
LOC130061278, TSPOAP1	0	0	1	0	1
LZTFL1	1	0	0	0	1
NPHP3, NPHP3-ACAD11	0	0	1	0	1
OTOA	0	1	0	0	1
PHLDB1	0	0	1	0	1
PLEKHG5	0	0	0	1	1
PRPH2	0	1	0	0	1
RPGRIP1L	0	1	0	0	1
SDCCAG8	0	0	1	0	1
SLC9B1	1	0	0	0	1
TSPOAP1	1	0	0	0	1
VSX2	0	0	0	1	1
WDPCP	0	0	1	0	1
WHRN	1	0	0	0	1

Condition and significance breakdown #

Total conditions: 7

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Condition	pathogenic	likely pathogenic	uncertain significance	not provided	total
Usher syndrome	56	35	9	0	100
Bardet-Biedl syndrome	42	17	37	0	96
not provided	0	0	6	6	12
Tuberous sclerosis 2	0	0	0	2	2
Bardet-Biedl syndrome 10	1	0	0	0	1
Juvenile retinoschisis; Macular schisis; Peripheral schisis	0	0	1	0	1
Neuronopathy, distal hereditary motor, autosomal recessive 4	0	0	0	1	1

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