Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1553258097
rs1553258097
USH2A
0.882 0.200 1 216422097 frameshift variant -/GTAC delins
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
USHER SYNDROME, TYPE IIA 		0.700 1.000 2 2000 2001
dbSNP: rs1553258097
rs1553258097
USH2A
0.882 0.200 1 216422097 frameshift variant -/GTAC delins
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 1.000 2 2000 2001
dbSNP: rs1553258097
rs1553258097
USH2A
0.882 0.200 1 216422097 frameshift variant -/GTAC delins
CUI: C0339534
Disease: Usher syndrome type 2
Usher syndrome type 2 		0.700 0
dbSNP: rs727503731
rs727503731
USH2A
0.851 0.200 1 216175368 frameshift variant -/T delins 1.2E-05; 4.0E-06 1.4E-05
CUI: C0271097
Disease: Usher Syndrome
Usher Syndrome 		0.700 1.000 1 2012 2012
dbSNP: rs727503731
rs727503731
USH2A
0.851 0.200 1 216175368 frameshift variant -/T delins 1.2E-05; 4.0E-06 1.4E-05
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 1.000 1 2012 2012
dbSNP: rs727503731
rs727503731
USH2A
0.851 0.200 1 216175368 frameshift variant -/T delins 1.2E-05; 4.0E-06 1.4E-05
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
USHER SYNDROME, TYPE IIA 		0.700 1.000 1 2012 2012
dbSNP: rs727503731
rs727503731
USH2A
0.851 0.200 1 216175368 frameshift variant -/T delins 1.2E-05; 4.0E-06 1.4E-05
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.700 1.000 1 2000 2000
dbSNP: rs1553253747
rs1553253747
USH2A
1.000 1 216365069 frameshift variant -/T delins
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 0
dbSNP: rs1553259060
rs1553259060
USH2A
0.925 0.200 1 215758693 frameshift variant -/T delins
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 0
dbSNP: rs1553259060
rs1553259060
USH2A
0.925 0.200 1 215758693 frameshift variant -/T delins
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
USHER SYNDROME, TYPE IIA 		0.700 0
dbSNP: rs1553277866
rs1553277866
USH2A
0.925 0.200 1 215934785 frameshift variant -/T delins
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 0
dbSNP: rs1553277866
rs1553277866
USH2A
0.925 0.200 1 215934785 frameshift variant -/T delins
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
USHER SYNDROME, TYPE IIA 		0.700 0
dbSNP: rs1553282698
rs1553282698
USH2A
0.925 0.200 1 215970713 frameshift variant -/T delins
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 0
dbSNP: rs1553282698
rs1553282698
USH2A
0.925 0.200 1 215970713 frameshift variant -/T delins
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
USHER SYNDROME, TYPE IIA 		0.700 0
dbSNP: rs1553300558
rs1553300558
USH2A
0.925 0.200 1 216089079 frameshift variant -/T delins
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 0
dbSNP: rs1553300558
rs1553300558
USH2A
0.925 0.200 1 216089079 frameshift variant -/T delins
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
USHER SYNDROME, TYPE IIA 		0.700 0
dbSNP: rs1553261387
rs1553261387
USH2A
0.925 0.200 1 215782185 frameshift variant -/TA delins
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
USHER SYNDROME, TYPE IIA 		0.700 0
dbSNP: rs1553261387
rs1553261387
USH2A
0.925 0.200 1 215782185 frameshift variant -/TA delins
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 0
dbSNP: rs527236121
rs527236121
USH2A
1.000 0.080 1 216292292 frameshift variant -/TC ins 4.0E-06
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.700 0
dbSNP: rs1553313308
rs1553313308
USH2A ; LOC105372918
0.925 0.200 1 216196610 frameshift variant -/TCATA delins
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
USHER SYNDROME, TYPE IIA 		0.700 0
dbSNP: rs1553313308
rs1553313308
USH2A ; LOC105372918
0.925 0.200 1 216196610 frameshift variant -/TCATA delins
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 0
dbSNP: rs1212608410
rs1212608410
USH2A
0.925 0.200 1 215674211 frameshift variant A/- del 4.0E-06
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 1.000 2 2014 2016
dbSNP: rs1212608410
rs1212608410
USH2A
0.925 0.200 1 215674211 frameshift variant A/- del 4.0E-06
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
USHER SYNDROME, TYPE IIA 		0.700 1.000 2 2014 2016
dbSNP: rs751176116
rs751176116
USH2A
0.925 0.200 1 215900145 frameshift variant A/- delins
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
USHER SYNDROME, TYPE IIA 		0.700 1.000 2 2014 2016
dbSNP: rs751176116
rs751176116
USH2A
0.925 0.200 1 215900145 frameshift variant A/- delins
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 1.000 2 2014 2016