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: rs1553261118
rs1553261118
USH2A
0.925 0.200 1 215779937 frameshift variant TTCT/- delins
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
USHER SYNDROME, TYPE IIA 		0.700 0
dbSNP: rs1553261118
rs1553261118
USH2A
0.925 0.200 1 215779937 frameshift variant TTCT/- delins
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 0
dbSNP: rs1553261898
rs1553261898
USH2A
0.925 0.200 1 215786739 frameshift variant TT/A;T delins
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
USHER SYNDROME, TYPE IIA 		0.700 0
dbSNP: rs1553261898
rs1553261898
USH2A
0.925 0.200 1 215786739 frameshift variant TT/A;T delins
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 0
dbSNP: rs781625683
rs781625683
USH2A
0.925 0.200 1 215640558 frameshift variant TT/-;TTTTTT delins 4.0E-06
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 0
dbSNP: rs781625683
rs781625683
USH2A
0.925 0.200 1 215640558 frameshift variant TT/-;TTTTTT delins 4.0E-06
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
USHER SYNDROME, TYPE IIA 		0.700 0
dbSNP: rs780779563
rs780779563
USH2A
0.925 0.200 1 216418619 frameshift variant TT/- delins 4.0E-06
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
USHER SYNDROME, TYPE IIA 		0.700 1.000 3 2004 2008
dbSNP: rs780779563
rs780779563
USH2A
0.925 0.200 1 216418619 frameshift variant TT/- delins 4.0E-06
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 1.000 3 2004 2008
dbSNP: rs397517964
rs397517964
USH2A
1.000 1 215786866 frameshift variant TT/- delins
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 1.000 2 2008 2010
dbSNP: rs1553297684
rs1553297684
USH2A
0.925 0.200 1 216070266 frameshift variant TT/- del
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 0
dbSNP: rs1553297684
rs1553297684
USH2A
0.925 0.200 1 216070266 frameshift variant TT/- del
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
USHER SYNDROME, TYPE IIA 		0.700 0
dbSNP: rs111033268
rs111033268
USH2A
0.925 0.200 1 216046454 frameshift variant TGCCTGAATAGATC/- delins 4.0E-06 7.0E-06
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 1.000 2 2009 2010
dbSNP: rs111033268
rs111033268
USH2A
0.925 0.200 1 216046454 frameshift variant TGCCTGAATAGATC/- delins 4.0E-06 7.0E-06
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
USHER SYNDROME, TYPE IIA 		0.700 1.000 2 2009 2010
dbSNP: rs1553268434
rs1553268434
USH2A
0.925 0.200 1 215844325 frameshift variant TC/- delins
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
USHER SYNDROME, TYPE IIA 		0.700 0
dbSNP: rs1553268434
rs1553268434
USH2A
0.925 0.200 1 215844325 frameshift variant TC/- delins
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 0
dbSNP: rs1215540106
rs1215540106
USH2A ; LOC105372918
1.000 0.200 1 216198562 inframe deletion TAGT/C;T delins 4.0E-06
CUI: C0271097
Disease: Usher Syndrome
Usher Syndrome 		0.700 0
dbSNP: rs1553249294
rs1553249294
USH2A
0.925 0.200 1 215639164 frameshift variant TAGAGGT/- del
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 0
dbSNP: rs1553249294
rs1553249294
USH2A
0.925 0.200 1 215639164 frameshift variant TAGAGGT/- del
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
USHER SYNDROME, TYPE IIA 		0.700 0
dbSNP: rs1366496013
rs1366496013
USH2A
0.925 0.200 1 216325336 frameshift variant TA/- delins 7.0E-06
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
USHER SYNDROME, TYPE IIA 		0.700 1.000 2 2007 2008
dbSNP: rs1366496013
rs1366496013
USH2A
0.925 0.200 1 216325336 frameshift variant TA/- delins 7.0E-06
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 1.000 1 2008 2008
dbSNP: rs1553252389
rs1553252389
USH2A
0.925 0.200 1 215674574 frameshift variant T/GAC delins
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
USHER SYNDROME, TYPE IIA 		0.700 0
dbSNP: rs1553252389
rs1553252389
USH2A
0.925 0.200 1 215674574 frameshift variant T/GAC delins
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 0
dbSNP: rs369522997
rs369522997
USH2A
0.882 0.200 1 216325412 missense variant T/G snv 6.8E-05 5.6E-05
CUI: C0271097
Disease: Usher Syndrome
Usher Syndrome 		0.700 1.000 7 2000 2016
dbSNP: rs369522997
rs369522997
USH2A
0.882 0.200 1 216325412 missense variant T/G snv 6.8E-05 5.6E-05
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 1.000 5 2000 2014
dbSNP: rs369522997
rs369522997
USH2A
0.882 0.200 1 216325412 missense variant T/G snv 6.8E-05 5.6E-05
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
USHER SYNDROME, TYPE IIA 		0.800 1.000 5 1998 2014