ADGRV1 — 7192 ClinVar variants
All ClinVar germline ADGRV1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 1907 flagged for review →
395 Pathogenic · 89 Pathogenic/Likely pathogenic · 201 Likely pathogenic · 861 Conflicting · 366 Benign · 101 Benign/Likely benign · 2976 Likely benign · 2203 Uncertain significance
Full ADGRV1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 1907
Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.
Predictors vs ClinVar 9
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
-
ADGRV1 p.Glu966Asp
Likely pathogenic
Single submitter
Usher syndrome type 2C
-
ADGRV1 p.Lys5456Asn
Likely pathogenic
Single submitter
hearing loss disorder
- ADGRV1 p.Trp1139Leu Likely pathogenic Single submitter
-
ADGRV1 p.Tyr5882Cys
Likely pathogenic
Single submitter
febrile seizures, familial, 4
-
ADGRV1 p.Asp4707Tyr
Likely pathogenic
No assertion criteria
Usher syndrome type 1
-
ADGRV1 p.Gln4839His
Likely pathogenic
No assertion criteria
Usher syndrome
-
ADGRV1 p.Gly3072Ser
Likely pathogenic
No assertion criteria
idiopathic generalized epilepsy
-
ADGRV1 p.Pro5732Leu
Pathogenic
No assertion criteria
idiopathic generalized epilepsy
-
ADGRV1 p.Tyr1170Ser
Likely pathogenic
No assertion criteria
idiopathic generalized epilepsy
Predictors agree, ClinVar conflicts 493
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification. · showing the 150 best-reviewed of 493
-
ADGRV1 p.Ala1373Val
Conflicting
Single submitter
Usher syndrome type 2C
-
ADGRV1 p.Ala1503Thr
Conflicting
Single submitter
Usher syndrome type 2C
-
ADGRV1 p.Ala1529Ser
Conflicting
Single submitter
Inborn genetic diseases
-
ADGRV1 p.Ala156Thr
Conflicting
Single submitter
Inborn genetic diseases
-
ADGRV1 p.Ala1719Thr
Conflicting
Single submitter
Inborn genetic diseases
- ADGRV1 p.Ala1719Val Conflicting Single submitter
-
ADGRV1 p.Ala1755Val
Conflicting
Single submitter
Usher syndrome type 2C
-
ADGRV1 p.Ala1914Thr
Conflicting
Single submitter
Inborn genetic diseases
-
ADGRV1 p.Ala1929Ser
Conflicting
Single submitter
Usher syndrome type 2
-
ADGRV1 p.Ala1929Thr
Conflicting
Single submitter
Usher syndrome type 2C
-
ADGRV1 p.Ala2085Val
Conflicting
Single submitter
Inborn genetic diseases
-
ADGRV1 p.Ala2146Pro
Conflicting
Single submitter
Inborn genetic diseases
-
ADGRV1 p.Ala2490Thr
Conflicting
Single submitter
Inborn genetic diseases
-
ADGRV1 p.Ala2948Thr
Conflicting
Single submitter
Inborn genetic diseases
-
ADGRV1 p.Ala314Thr
Conflicting
Single submitter
Usher syndrome type 2C
- ADGRV1 p.Ala3195Ser Conflicting Single submitter
-
ADGRV1 p.Ala3217Val
Conflicting
Single submitter
febrile seizures, familial, 1
- ADGRV1 p.Ala3234Val Conflicting Single submitter
- ADGRV1 p.Ala3691Thr Conflicting Single submitter
-
ADGRV1 p.Ala3921Thr
Conflicting
Single submitter
Inborn genetic diseases
-
ADGRV1 p.Ala3983Thr
Conflicting
Single submitter
Inborn genetic diseases
-
ADGRV1 p.Ala4154Val
Conflicting
Single submitter
Inborn genetic diseases
- ADGRV1 p.Ala4241Thr Conflicting Single submitter
-
ADGRV1 p.Ala4396Thr
Conflicting
Single submitter
Usher syndrome type 2C
-
ADGRV1 p.Ala4573Val
Conflicting
Single submitter
Usher syndrome type 2C
-
ADGRV1 p.Ala4921Thr
Conflicting
Single submitter
Usher syndrome type 2
- ADGRV1 p.Ala4984Ser Conflicting Single submitter
- ADGRV1 p.Ala502Val Conflicting Single submitter
-
ADGRV1 p.Ala5354Val
Conflicting
Single submitter
Inborn genetic diseases
-
ADGRV1 p.Ala5484Thr
Conflicting
Single submitter
Usher syndrome type 2
-
ADGRV1 p.Ala5513Ser
Conflicting
Single submitter
Inborn genetic diseases
- ADGRV1 p.Ala5513Thr Conflicting Single submitter
- ADGRV1 p.Ala562Ser Conflicting Single submitter
- ADGRV1 p.Ala5908Thr Conflicting Single submitter
-
ADGRV1 p.Ala5957Thr
Conflicting
Single submitter
Inborn genetic diseases
- ADGRV1 p.Ala5966Thr Conflicting Single submitter
-
ADGRV1 p.Ala5972Thr
Conflicting
Single submitter
Inborn genetic diseases
-
ADGRV1 p.Ala5974Ser
Conflicting
Single submitter
Inborn genetic diseases
- ADGRV1 p.Arg1010Cys Conflicting Single submitter
-
ADGRV1 p.Arg1068Lys
Conflicting
Single submitter
Inborn genetic diseases
- ADGRV1 p.Arg1319Trp Conflicting Single submitter
- ADGRV1 p.Arg1320Cys Conflicting Single submitter
- ADGRV1 p.Arg1488Gln Conflicting Single submitter
- ADGRV1 p.Arg1517Ile Conflicting Single submitter
-
ADGRV1 p.Arg1553His
Conflicting
Single submitter
Inborn genetic diseases
- ADGRV1 p.Arg1662His Conflicting Single submitter
-
ADGRV1 p.Arg1784Lys
Conflicting
Single submitter
Inborn genetic diseases
- ADGRV1 p.Arg2090His Conflicting Single submitter
- ADGRV1 p.Arg2336Gln Conflicting Single submitter
-
ADGRV1 p.Arg2360Cys
Conflicting
Single submitter
Inborn genetic diseases
- ADGRV1 p.Arg2384Trp Conflicting Single submitter
-
ADGRV1 p.Arg2625Cys
Conflicting
Single submitter
Inborn genetic diseases
-
ADGRV1 p.Arg2625His
Conflicting
Single submitter
Usher syndrome type 2C
- ADGRV1 p.Arg2733Leu Conflicting Single submitter
- ADGRV1 p.Arg2940Thr Conflicting Single submitter
- ADGRV1 p.Arg3023Ser Conflicting Single submitter
-
ADGRV1 p.Arg3147Gln
Conflicting
Single submitter
febrile seizures, familial, 4
-
ADGRV1 p.Arg3536His
Conflicting
Single submitter
Inborn genetic diseases
-
ADGRV1 p.Arg3687His
Conflicting
Single submitter
Inborn genetic diseases
-
ADGRV1 p.Arg3741Cys
Conflicting
Single submitter
Inborn genetic diseases
-
ADGRV1 p.Arg3741His
Conflicting
Single submitter
Inborn genetic diseases
-
ADGRV1 p.Arg3780Cys
Conflicting
Single submitter
febrile seizures, familial, 4
-
ADGRV1 p.Arg3780His
Conflicting
Single submitter
Inborn genetic diseases
- ADGRV1 p.Arg3892Gln Conflicting Single submitter
-
ADGRV1 p.Arg402Met
Conflicting
Single submitter
Inborn genetic diseases
-
ADGRV1 p.Arg4071Gln
Conflicting
Single submitter
Usher syndrome type 2C
-
ADGRV1 p.Arg4117Cys
Conflicting
Single submitter
Usher syndrome type 2
-
ADGRV1 p.Arg4117His
Conflicting
Single submitter
Usher syndrome type 2C
- ADGRV1 p.Arg4142Trp Conflicting Single submitter
-
ADGRV1 p.Arg4211Gln
Conflicting
Single submitter
Inborn genetic diseases
-
ADGRV1 p.Arg4277Leu
Conflicting
Single submitter
Usher syndrome type 2C
-
ADGRV1 p.Arg4299Gln
Conflicting
Single submitter
febrile seizures, familial, 4
-
ADGRV1 p.Arg4387Cys
Conflicting
Single submitter
Inborn genetic diseases
- ADGRV1 p.Arg4499Cys Conflicting Single submitter
-
ADGRV1 p.Arg4499His
Conflicting
Single submitter
Inborn genetic diseases
- ADGRV1 p.Arg450Thr Conflicting Single submitter
-
ADGRV1 p.Arg4770Cys
Conflicting
Single submitter
Inborn genetic diseases
-
ADGRV1 p.Arg4802Gln
Conflicting
Single submitter
Usher syndrome type 2
- ADGRV1 p.Arg5112His Conflicting Single submitter
-
ADGRV1 p.Arg5246Gln
Conflicting
Single submitter
Inborn genetic diseases
-
ADGRV1 p.Arg5246Leu
Conflicting
Single submitter
Inborn genetic diseases
-
ADGRV1 p.Arg5277Cys
Conflicting
Single submitter
Usher syndrome type 2C
-
ADGRV1 p.Arg5277His
Conflicting
Single submitter
Inborn genetic diseases
- ADGRV1 p.Arg5310Cys Conflicting Single submitter
-
ADGRV1 p.Arg535Gln
Conflicting
Single submitter
Inborn genetic diseases
-
ADGRV1 p.Arg5409Gln
Conflicting
Single submitter
Inborn genetic diseases
-
ADGRV1 p.Arg5547His
Conflicting
Single submitter
Usher syndrome type 2C
- ADGRV1 p.Arg5688Gln Conflicting Single submitter
-
ADGRV1 p.Arg580Thr
Conflicting
Single submitter
Inborn genetic diseases
-
ADGRV1 p.Arg762His
Conflicting
Single submitter
Usher syndrome type 2C
- ADGRV1 p.Arg813Gln Conflicting Single submitter
-
ADGRV1 p.Arg866Trp
Conflicting
Single submitter
Usher syndrome type 2C
-
ADGRV1 p.Arg920Gln
Conflicting
Single submitter
Usher syndrome type 2
-
ADGRV1 p.Asn1390Asp
Conflicting
Single submitter
Inborn genetic diseases
-
ADGRV1 p.Asn150Ser
Conflicting
Single submitter
febrile seizures, familial, 4
-
ADGRV1 p.Asn1570Ser
Conflicting
Single submitter
Inborn genetic diseases
-
ADGRV1 p.Asn1629Asp
Conflicting
Single submitter
Inborn genetic diseases
- ADGRV1 p.Asn192Asp Conflicting Single submitter
- ADGRV1 p.Asn1985His Conflicting Single submitter
- ADGRV1 p.Asn2113Ser Conflicting Single submitter
-
ADGRV1 p.Asn2207Ser
Conflicting
Single submitter
Inborn genetic diseases
-
ADGRV1 p.Asn2267Ser
Conflicting
Single submitter
Inborn genetic diseases
- ADGRV1 p.Asn228Ser Conflicting Single submitter
-
ADGRV1 p.Asn2428Asp
Conflicting
Single submitter
Inborn genetic diseases
- ADGRV1 p.Asn2588Thr Conflicting Single submitter
- ADGRV1 p.Asn2753Asp Conflicting Single submitter
-
ADGRV1 p.Asn2841Asp
Conflicting
Single submitter
Inborn genetic diseases
- ADGRV1 p.Asn2859Ser Conflicting Single submitter
- ADGRV1 p.Asn2955Ser Conflicting Single submitter
-
ADGRV1 p.Asn3316Lys
Conflicting
Single submitter
Inborn genetic diseases
-
ADGRV1 p.Asn3472Asp
Conflicting
Single submitter
Inborn genetic diseases
- ADGRV1 p.Asn3727Ser Conflicting Single submitter
-
ADGRV1 p.Asn4256Ile
Conflicting
Single submitter
Inborn genetic diseases
- ADGRV1 p.Asn4531Ser Conflicting Single submitter
- ADGRV1 p.Asn4778Lys Conflicting Single submitter
- ADGRV1 p.Asn4847Ile Conflicting Single submitter
- ADGRV1 p.Asn5365Ser Conflicting Single submitter
- ADGRV1 p.Asn5425Asp Conflicting Single submitter
-
ADGRV1 p.Asn5479Ser
Conflicting
Single submitter
Inborn genetic diseases
- ADGRV1 p.Asn5759Ser Conflicting Single submitter
-
ADGRV1 p.Asn600Ser
Conflicting
Single submitter
ADGRV1-related disorder
- ADGRV1 p.Asn6201His Conflicting Single submitter
- ADGRV1 p.Asn649Ser Conflicting Single submitter
-
ADGRV1 p.Asn657His
Conflicting
Single submitter
Usher syndrome type 2C
- ADGRV1 p.Asn820Ser Conflicting Single submitter
-
ADGRV1 p.Asn825Ile
Conflicting
Single submitter
ADGRV1-related disorder
- ADGRV1 p.Asp1042Gly Conflicting Single submitter
-
ADGRV1 p.Asp1051Tyr
Conflicting
Single submitter
Usher syndrome type 2C
-
ADGRV1 p.Asp1280Asn
Conflicting
Single submitter
inherited retinal dystrophy
-
ADGRV1 p.Asp1736Gly
Conflicting
Single submitter
Usher syndrome type 2C
- ADGRV1 p.Asp1908Asn Conflicting Single submitter
-
ADGRV1 p.Asp1944Tyr
Conflicting
Single submitter
Usher syndrome type 2C
-
ADGRV1 p.Asp2039Gly
Conflicting
Single submitter
Inborn genetic diseases
-
ADGRV1 p.Asp2335Glu
Conflicting
Single submitter
Inborn genetic diseases
-
ADGRV1 p.Asp2636Gly
Conflicting
Single submitter
Inborn genetic diseases
- ADGRV1 p.Asp2820Ala Conflicting Single submitter
-
ADGRV1 p.Asp297Glu
Conflicting
Single submitter
Inborn genetic diseases
-
ADGRV1 p.Asp3040Glu
Conflicting
Single submitter
Inborn genetic diseases
-
ADGRV1 p.Asp321Tyr
Conflicting
Single submitter
Usher syndrome type 2C
-
ADGRV1 p.Asp3381Gly
Conflicting
Single submitter
Inborn genetic diseases
-
ADGRV1 p.Asp3550Tyr
Conflicting
Single submitter
Inborn genetic diseases
- ADGRV1 p.Asp365Gly Conflicting Single submitter
- ADGRV1 p.Asp4094Gly Conflicting Single submitter
- ADGRV1 p.Asp4414Asn Conflicting Single submitter
- ADGRV1 p.Asp4574Gly Conflicting Single submitter
-
ADGRV1 p.Asp4729Asn
Conflicting
Single submitter
Inborn genetic diseases
- ADGRV1 p.Asp4729Gly Conflicting Single submitter
-
ADGRV1 p.Asp473Glu
Conflicting
Single submitter
Usher syndrome type 2C
-
ADGRV1 p.Asp4832Glu
Conflicting
Single submitter
Inborn genetic diseases
- ADGRV1 p.Asp5147Gly Conflicting Single submitter
Predictors lean, ClinVar uncertain 1298
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 1298
- ADGRV1 p.Ala1039Val Uncertain significance Multiple submitters
-
ADGRV1 p.Ala1630Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
- ADGRV1 p.Ala2295Val Uncertain significance Multiple submitters
-
ADGRV1 p.Ala2811Gly
Uncertain significance
Multiple submitters
ADGRV1-related disorder
-
ADGRV1 p.Ala3019Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ADGRV1 p.Ala3314Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
- ADGRV1 p.Ala4147Thr Uncertain significance Multiple submitters
- ADGRV1 p.Ala4508Gly Uncertain significance Multiple submitters
-
ADGRV1 p.Ala4645Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
- ADGRV1 p.Ala5046Ser Uncertain significance Multiple submitters
- ADGRV1 p.Ala5131Ser Uncertain significance Multiple submitters
-
ADGRV1 p.Ala5187Val
Uncertain significance
Multiple submitters
Usher syndrome type 2C
-
ADGRV1 p.Ala5208Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ADGRV1 p.Ala5212Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ADGRV1 p.Ala5542Asp
Uncertain significance
Multiple submitters
hearing loss disorder
- ADGRV1 p.Ala5961Thr Uncertain significance Multiple submitters
- ADGRV1 p.Ala5974Gly Uncertain significance Multiple submitters
- ADGRV1 p.Ala89Thr Uncertain significance Multiple submitters
- ADGRV1 p.Ala908Gly Uncertain significance Multiple submitters
-
ADGRV1 p.Arg1841Cys
Uncertain significance
Multiple submitters
Usher syndrome type 2C
-
ADGRV1 p.Arg1841His
Uncertain significance
Multiple submitters
Usher syndrome type 2C
- ADGRV1 p.Arg2384Gly Uncertain significance Multiple submitters
-
ADGRV1 p.Arg285Pro
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ADGRV1 p.Arg3105Gln
Uncertain significance
Multiple submitters
Usher syndrome type 2C
-
ADGRV1 p.Arg3494Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ADGRV1 p.Arg3536Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ADGRV1 p.Arg3601Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
- ADGRV1 p.Arg4211Leu Uncertain significance Multiple submitters
-
ADGRV1 p.Arg493Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
- ADGRV1 p.Arg4991Gln Uncertain significance Multiple submitters
-
ADGRV1 p.Arg5932Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
- ADGRV1 p.Asn1200Asp Uncertain significance Multiple submitters
- ADGRV1 p.Asn1368Lys Uncertain significance Multiple submitters
-
ADGRV1 p.Asn2030Asp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ADGRV1 p.Asn2291Asp
Uncertain significance
Multiple submitters
Inborn genetic diseases
- ADGRV1 p.Asn2694Ser Uncertain significance Multiple submitters
- ADGRV1 p.Asn2746Thr Uncertain significance Multiple submitters
-
ADGRV1 p.Asn3463Tyr
Uncertain significance
Multiple submitters
Inborn genetic diseases
- ADGRV1 p.Asn5645Ser Uncertain significance Multiple submitters
-
ADGRV1 p.Asn6172Ser
Uncertain significance
Multiple submitters
Usher syndrome type 2C
- ADGRV1 p.Asn657Ser Uncertain significance Multiple submitters
- ADGRV1 p.Asp1079Val Uncertain significance Multiple submitters
- ADGRV1 p.Asp1098Asn Uncertain significance Multiple submitters
-
ADGRV1 p.Asp1618Glu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ADGRV1 p.Asp1880Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
- ADGRV1 p.Asp1940His Uncertain significance Multiple submitters
-
ADGRV1 p.Asp1973His
Uncertain significance
Multiple submitters
Inborn genetic diseases
- ADGRV1 p.Asp2393Asn Uncertain significance Multiple submitters
-
ADGRV1 p.Asp2395Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ADGRV1 p.Asp2530His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ADGRV1 p.Asp387Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
- ADGRV1 p.Asp4115Asn Uncertain significance Multiple submitters
- ADGRV1 p.Asp4394Tyr Uncertain significance Multiple submitters
-
ADGRV1 p.Asp4435Glu
Uncertain significance
Multiple submitters
Usher syndrome type 2C
-
ADGRV1 p.Asp4825Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ADGRV1 p.Asp4832Asn
Uncertain significance
Multiple submitters
Usher syndrome type 2C
-
ADGRV1 p.Asp5134Gly
Uncertain significance
Multiple submitters
Usher syndrome type 2C
- ADGRV1 p.Asp5422Tyr Uncertain significance Multiple submitters
-
ADGRV1 p.Asp74Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
- ADGRV1 p.Cys5921Ser Uncertain significance Multiple submitters
- ADGRV1 p.Cys5970Ser Uncertain significance Multiple submitters
-
ADGRV1 p.Gln1069His
Uncertain significance
Multiple submitters
Inborn genetic diseases
- ADGRV1 p.Gln1614Glu Uncertain significance Multiple submitters
-
ADGRV1 p.Gln235His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ADGRV1 p.Gln2874Glu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ADGRV1 p.Gln368Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ADGRV1 p.Gln4955Arg
Uncertain significance
Multiple submitters
inherited retinal dystrophy
-
ADGRV1 p.Glu1056Asp
Uncertain significance
Multiple submitters
Inborn genetic diseases
- ADGRV1 p.Glu1515Asp Uncertain significance Multiple submitters
-
ADGRV1 p.Glu1756Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
- ADGRV1 p.Glu188Asp Uncertain significance Multiple submitters
-
ADGRV1 p.Glu2226Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
- ADGRV1 p.Glu224Lys Uncertain significance Multiple submitters
- ADGRV1 p.Glu2544Gly Uncertain significance Multiple submitters
-
ADGRV1 p.Glu2748Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
- ADGRV1 p.Glu3106Ala Uncertain significance Multiple submitters
-
ADGRV1 p.Glu4095Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ADGRV1 p.Glu4200Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
- ADGRV1 p.Glu4727Lys Uncertain significance Multiple submitters
-
ADGRV1 p.Glu5232Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
- ADGRV1 p.Glu5968Asp Uncertain significance Multiple submitters
-
ADGRV1 p.Glu5968Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
- ADGRV1 p.Glu6007Asp Uncertain significance Multiple submitters
- ADGRV1 p.Glu6284Lys Uncertain significance Multiple submitters
- ADGRV1 p.Glu792Ala Uncertain significance Multiple submitters
- ADGRV1 p.Gly1825Ser Uncertain significance Multiple submitters
- ADGRV1 p.Gly2233Val Uncertain significance Multiple submitters
-
ADGRV1 p.Gly2328Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ADGRV1 p.Gly3489Glu
Uncertain significance
Multiple submitters
Usher syndrome type 2C
- ADGRV1 p.Gly3753Asp Uncertain significance Multiple submitters
-
ADGRV1 p.Gly3753Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ADGRV1 p.Gly3922Glu
Uncertain significance
Multiple submitters
Inborn genetic diseases
- ADGRV1 p.Gly461Trp Uncertain significance Multiple submitters
-
ADGRV1 p.Gly4640Glu
Uncertain significance
Multiple submitters
febrile seizures, familial, 4
-
ADGRV1 p.Gly4913Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ADGRV1 p.Gly5132Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
- ADGRV1 p.Gly5337Glu Uncertain significance Multiple submitters
-
ADGRV1 p.Gly5604Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
- ADGRV1 p.Gly6176Glu Uncertain significance Multiple submitters
-
ADGRV1 p.Gly6185Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ADGRV1 p.Gly6204Ser
Uncertain significance
Multiple submitters
Usher syndrome type 2C
-
ADGRV1 p.Gly6279Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ADGRV1 p.Gly6281Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
- ADGRV1 p.Gly6286Ala Uncertain significance Multiple submitters
- ADGRV1 p.Gly6286Asp Uncertain significance Multiple submitters
- ADGRV1 p.Gly708Asp Uncertain significance Multiple submitters
-
ADGRV1 p.Gly896Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ADGRV1 p.Gly896Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ADGRV1 p.Gly90Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ADGRV1 p.His1607Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
- ADGRV1 p.His1893Tyr Uncertain significance Multiple submitters
-
ADGRV1 p.His277Arg
Uncertain significance
Multiple submitters
ADGRV1-related disorder
-
ADGRV1 p.His315Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
- ADGRV1 p.His4105Arg Uncertain significance Multiple submitters
-
ADGRV1 p.His609Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ADGRV1 p.Ile1062Thr
Uncertain significance
Multiple submitters
Usher syndrome type 2C
-
ADGRV1 p.Ile113Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ADGRV1 p.Ile1381Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
- ADGRV1 p.Ile1542Val Uncertain significance Multiple submitters
-
ADGRV1 p.Ile1696Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
- ADGRV1 p.Ile1797Val Uncertain significance Multiple submitters
- ADGRV1 p.Ile2610Thr Uncertain significance Multiple submitters
- ADGRV1 p.Ile2704Thr Uncertain significance Multiple submitters
- ADGRV1 p.Ile2742Met Uncertain significance Multiple submitters
-
ADGRV1 p.Ile3156Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ADGRV1 p.Ile3423Val
Uncertain significance
Multiple submitters
Usher syndrome type 2C
-
ADGRV1 p.Ile3516Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ADGRV1 p.Ile3516Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ADGRV1 p.Ile351Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ADGRV1 p.Ile3522Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ADGRV1 p.Ile3756Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
- ADGRV1 p.Ile3765Val Uncertain significance Multiple submitters
- ADGRV1 p.Ile3812Val Uncertain significance Multiple submitters
-
ADGRV1 p.Ile3874Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
- ADGRV1 p.Ile4174Thr Uncertain significance Multiple submitters
- ADGRV1 p.Ile4353Val Uncertain significance Multiple submitters
-
ADGRV1 p.Ile4550Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ADGRV1 p.Ile4572Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
- ADGRV1 p.Ile4602Thr Uncertain significance Multiple submitters
-
ADGRV1 p.Ile4749Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
- ADGRV1 p.Ile4773Val Uncertain significance Multiple submitters
-
ADGRV1 p.Ile4868Val
Uncertain significance
Multiple submitters
febrile seizures, familial, 4
- ADGRV1 p.Ile5617Val Uncertain significance Multiple submitters
-
ADGRV1 p.Ile5699Val
Uncertain significance
Multiple submitters
febrile seizures, familial, 4
-
ADGRV1 p.Ile5785Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ADGRV1 p.Ile652Val
Uncertain significance
Multiple submitters
hearing loss disorder
- ADGRV1 p.Ile766Val Uncertain significance Multiple submitters
-
ADGRV1 p.Ile87Val
Uncertain significance
Multiple submitters
febrile seizures, familial, 4
-
ADGRV1 p.Ile958Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ADGRV1 p.Leu169Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
Predictors split 107
The independent predictors disagree with each other — read with care.
- ADGRV1 p.Ala1571Val Uncertain significance Multiple submitters
- ADGRV1 p.Arg747Gly Uncertain significance Multiple submitters
- ADGRV1 p.Asn2735Ser Likely benign Multiple submitters
- ADGRV1 p.Cys5921Arg Uncertain significance Multiple submitters
-
ADGRV1 p.Glu2718Asp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ADGRV1 p.Gly1097Ser
Benign/Likely benign
Multiple submitters
Usher syndrome type 2C
- ADGRV1 p.Gly5223Arg Uncertain significance Multiple submitters
-
ADGRV1 p.His5889Gln
Uncertain significance
Multiple submitters
Usher syndrome type 2C
- ADGRV1 p.Ile5477Thr Uncertain significance Multiple submitters
-
ADGRV1 p.Phe2235Leu
Uncertain significance
Multiple submitters
Usher syndrome type 2C
- ADGRV1 p.Phe2519Leu Uncertain significance Multiple submitters
-
ADGRV1 p.Phe520Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
- ADGRV1 p.Pro1509Ser Uncertain significance Multiple submitters
-
ADGRV1 p.Ser4503Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
- ADGRV1 p.Ser6272Arg Uncertain significance Multiple submitters
- ADGRV1 p.Thr6267Ile Uncertain significance Multiple submitters
-
ADGRV1 p.Val6294Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ADGRV1 p.Ala4872Pro
Uncertain significance
Single submitter
Inborn genetic diseases
- ADGRV1 p.Arg3910Ser Uncertain significance Single submitter
- ADGRV1 p.Arg4991Pro Uncertain significance Single submitter
- ADGRV1 p.Arg5594Ser Uncertain significance Single submitter
- ADGRV1 p.Arg5703Cys Likely benign Single submitter
- ADGRV1 p.Arg918Lys Likely benign Single submitter
-
ADGRV1 p.Asn5365Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
ADGRV1 p.Asn5478Lys
Uncertain significance
Single submitter
Usher syndrome type 2
- ADGRV1 p.Asn649Lys Conflicting Single submitter
- ADGRV1 p.Asn769Lys Uncertain significance Single submitter
- ADGRV1 p.Asp1085Tyr Conflicting Single submitter
- ADGRV1 p.Asp2942His Uncertain significance Single submitter
- ADGRV1 p.Asp3771Asn Benign Single submitter
- ADGRV1 p.Asp5869Gly Uncertain significance Single submitter
- ADGRV1 p.Cys3169Tyr Uncertain significance Single submitter
-
ADGRV1 p.Gln5375His
Conflicting
Single submitter
Inborn genetic diseases
-
ADGRV1 p.Glu274Gln
Uncertain significance
Single submitter
febrile seizures, familial, 4
- ADGRV1 p.Glu3088Gln Uncertain significance Single submitter
- ADGRV1 p.Glu3088Lys Conflicting Single submitter
-
ADGRV1 p.Glu4479Ala
Uncertain significance
Single submitter
Inborn genetic diseases
- ADGRV1 p.Glu651Asp Uncertain significance Single submitter
- ADGRV1 p.Gly1279Ala Uncertain significance Single submitter
- ADGRV1 p.Gly1306Glu Uncertain significance Single submitter
- ADGRV1 p.Gly2144Glu Uncertain significance Single submitter
- ADGRV1 p.Gly2867Glu Likely benign Single submitter
-
ADGRV1 p.Gly3281Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- ADGRV1 p.Gly4012Asp Uncertain significance Single submitter
-
ADGRV1 p.Gly5730Cys
Uncertain significance
Single submitter
Usher syndrome type 2C
- ADGRV1 p.Gly984Glu Uncertain significance Single submitter
- ADGRV1 p.His6156Gln Uncertain significance Single submitter
- ADGRV1 p.Ile1372Arg Uncertain significance Single submitter
-
ADGRV1 p.Ile3468Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
ADGRV1 p.Ile3814Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
ADGRV1 p.Ile4162Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
ADGRV1 p.Ile4610Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- ADGRV1 p.Ile51Thr Uncertain significance Single submitter
- ADGRV1 p.Ile6195Thr Uncertain significance Single submitter
- ADGRV1 p.Ile647Val Uncertain significance Single submitter
- ADGRV1 p.Leu1396His Uncertain significance Single submitter
-
ADGRV1 p.Leu3408Pro
Uncertain significance
Single submitter
Inborn genetic diseases
- ADGRV1 p.Lys2484Asn Uncertain significance Single submitter
- ADGRV1 p.Lys5818Asn Uncertain significance Single submitter
-
ADGRV1 p.Met3845Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- ADGRV1 p.Met4210Thr Uncertain significance Single submitter
- ADGRV1 p.Met5944Ile Conflicting Single submitter
- ADGRV1 p.Met5945Ile Uncertain significance Single submitter
- ADGRV1 p.Phe1169Leu Uncertain significance Single submitter
- ADGRV1 p.Phe1292Leu Uncertain significance Single submitter
- ADGRV1 p.Phe1525Leu Uncertain significance Single submitter
-
ADGRV1 p.Phe1541Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- ADGRV1 p.Phe2493Leu Uncertain significance Single submitter
- ADGRV1 p.Phe3200Val Uncertain significance Single submitter
- ADGRV1 p.Phe3469Leu Uncertain significance Single submitter
- ADGRV1 p.Phe3484Leu Uncertain significance Single submitter
- ADGRV1 p.Phe3501Leu Likely benign Single submitter
- ADGRV1 p.Phe3774Leu Likely benign Single submitter
- ADGRV1 p.Phe3915Leu Uncertain significance Single submitter
- ADGRV1 p.Phe400Leu Uncertain significance Single submitter
- ADGRV1 p.Phe41Leu Uncertain significance Single submitter
- ADGRV1 p.Phe4269Leu Uncertain significance Single submitter
-
ADGRV1 p.Phe4752Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
ADGRV1 p.Phe4841Leu
Conflicting
Single submitter
Inborn genetic diseases
- ADGRV1 p.Phe5303Leu Uncertain significance Single submitter
- ADGRV1 p.Phe5407Leu Uncertain significance Single submitter
- ADGRV1 p.Phe5483Leu Conflicting Single submitter
- ADGRV1 p.Phe6062Leu Uncertain significance Single submitter
- ADGRV1 p.Pro2939Ser Conflicting Single submitter
- ADGRV1 p.Pro2939Thr Conflicting Single submitter
- ADGRV1 p.Ser148Pro Conflicting Single submitter
- ADGRV1 p.Ser1568Asn Conflicting Single submitter
- ADGRV1 p.Ser1593Phe Uncertain significance Single submitter
- ADGRV1 p.Ser1613Pro Uncertain significance Single submitter
-
ADGRV1 p.Ser1681Asn
Uncertain significance
Single submitter
Inborn genetic diseases
- ADGRV1 p.Ser1803Pro Likely benign Single submitter
- ADGRV1 p.Ser4029Pro Uncertain significance Single submitter
- ADGRV1 p.Ser4157Pro Likely benign Single submitter
-
ADGRV1 p.Ser6196Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- ADGRV1 p.Ser6282Arg Uncertain significance Single submitter
- ADGRV1 p.Ser721Ile Uncertain significance Single submitter
- ADGRV1 p.Thr1108Ala Uncertain significance Single submitter
-
ADGRV1 p.Thr1325Met
Conflicting
Single submitter
ADGRV1-related disorder
-
ADGRV1 p.Thr4788Ile
Uncertain significance
Single submitter
Usher syndrome type 2C
- ADGRV1 p.Thr5411Lys Uncertain significance Single submitter
-
ADGRV1 p.Thr5536Asn
Uncertain significance
Single submitter
Inborn genetic diseases
- ADGRV1 p.Thr6118Ile Likely benign Single submitter
- ADGRV1 p.Thr6304Ser Uncertain significance Single submitter
-
ADGRV1 p.Tyr1382Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
ADGRV1 p.Tyr1383Cys
Conflicting
Single submitter
Usher syndrome type 2C
- ADGRV1 p.Val1644Leu Uncertain significance Single submitter
- ADGRV1 p.Val5875Ala Benign Single submitter
All ADGRV1 variants
Pathogenic 395
Showing the top 300 by review status; the full set is in the sitemap.
- c.17974-1G>C Multiple submitters Usher syndrome type 2
- c.9906+1G>A Multiple submitters ADGRV1-related disorder
- p.Arg2128Ter Multiple submitters ADGRV1-related disorder
- p.Arg2286Ter Multiple submitters
- p.Arg2336Ter Multiple submitters Rare genetic deafness
- p.Arg3227Ter Multiple submitters Usher syndrome type 2C
- p.Arg3804Ter Multiple submitters febrile seizures, familial, 4
- p.Arg4277Ter Multiple submitters Usher syndrome type 2C
- p.Arg4299Ter Multiple submitters
- p.Arg5246Ter Multiple submitters Usher syndrome type 2C
- p.Arg5688Ter Multiple submitters Usher syndrome type 2C
- p.Arg5772Ter Multiple submitters ADGRV1-related disorder
- p.Asn319fs Multiple submitters febrile seizures, familial, 4
- p.Asn4553fs Multiple submitters Usher syndrome type 2C
- p.Asn957fs Multiple submitters febrile seizures, familial, 4
- p.Gln2874Ter Multiple submitters ADGRV1-related disorder
- p.Gln4275Ter Multiple submitters
- p.Gln4989Ter Multiple submitters inherited retinal dystrophy
- p.Gln5796Ter Multiple submitters Usher syndrome type 2C
- p.Glu3855Ter Multiple submitters Usher syndrome type 2C
- p.Glu4709_Ser4710insTer Multiple submitters
- p.Gly2615fs Multiple submitters
- p.Gly950fs Multiple submitters Monogenic hearing loss
- p.Ile1243fs Multiple submitters
- p.Ile2906fs Multiple submitters ADGRV1-related disorder
- p.Met5890fs Multiple submitters ADGRV1 & GPR98-related disorders
- p.Pro522fs Multiple submitters
- p.Ser1928fs Multiple submitters Rare genetic deafness
- p.Ser2934Ter Multiple submitters Usher syndrome type 2C
- p.Ser3646fs Multiple submitters
- p.Ser4166Ter Multiple submitters Usher syndrome type 2C
- p.Ser4233fs Multiple submitters Usher syndrome
- p.Ser955Ter Multiple submitters Usher syndrome
- p.Thr2930fs Multiple submitters ADGRV1-related disorder
- p.Thr5348fs Multiple submitters Usher syndrome
- p.Trp5753Ter Multiple submitters
- p.Tyr1882fs Multiple submitters Rare genetic deafness
- p.Tyr4266Ter Multiple submitters Usher syndrome
- p.Val3363fs Multiple submitters ADGRV1-related disorder
- p.Val5647fs Multiple submitters ADGRV1-related disorder
- c.10054-2A>C Single submitter
- c.10550-1G>A Single submitter
- c.10769+2T>A Single submitter
- c.11122-2A>G Single submitter
- c.12528-1G>T Single submitter Usher syndrome type 2C
- c.14517+1G>T Single submitter
- c.16368+1G>T Single submitter
- c.17912_17973+12del Single submitter
- c.17974-1G>A Single submitter
- c.17974-2del Single submitter
- c.18310+1G>A Single submitter
- c.2241-2A>G Single submitter Usher syndrome type 2
- c.(?_4379 Single submitter Rare genetic deafness
- c.6490+1G>A Single submitter
- c.8155+1G>A Single submitter
- c.8155+1G>T Single submitter
- c.9748+2T>C Single submitter Usher syndrome type 2C
- p.Ala1045fs Single submitter Usher syndrome type 2C
- p.Ala2184fs Single submitter
- p.Ala2371_Asn2372insTer Single submitter Usher syndrome type 2C
- p.Ala3655fs Single submitter
- p.Ala4884fs Single submitter
- p.Ala502fs Single submitter
- p.Ala5120fs Single submitter
- p.Ala5542fs Single submitter
- p.Ala5947fs Single submitter
- p.Arg1144Ter Single submitter
- p.Arg1319fs Single submitter
- p.Arg1447fs Single submitter
- p.Arg1820fs Single submitter
- p.Arg211fs Single submitter
- p.Arg2376fs Single submitter
- p.Arg2625fs Single submitter
- p.Arg2728Ter Single submitter
- p.Arg4071fs Single submitter
- p.Arg4179Ter Single submitter
- p.Arg5482fs Single submitter
- p.Arg6008fs Single submitter
- p.Arg94fs Single submitter
- p.Asn1364fs Single submitter
- p.Asn259fs Single submitter
- p.Asn2700fs Single submitter
- p.Asn2735fs Single submitter
- p.Asn3049fs Single submitter
- p.Asn3059fs Single submitter
- p.Asn3207fs Single submitter
- p.Asn3444delinsPhePhePhePhePhePheXaaXaaXaaXaaLeuThrSerTer Single submitter
- p.Asn3637fs Single submitter inherited retinal dystrophy
- p.Asn4225fs Single submitter
- p.Asn4464fs Single submitter
- p.Asn4786fs Single submitter
- p.Asn5718fs Single submitter
- p.Asn989fs Single submitter
- p.Asp1001fs Single submitter
- p.Asp1051fs Single submitter
- p.Asp1906_Ser1907insTer Single submitter ADGRV1-related disorder
- p.Asp2662_Ser2663insTer Single submitter
- p.Asp3071fs Single submitter
- p.Asp3369fs Single submitter
- p.Asp3649fs Single submitter
- p.Asp3827fs Single submitter
- p.Asp5347fs Single submitter
- p.Asp582delinsGluGluLysTer Single submitter
- p.Asp706fs Single submitter
- p.Cys1034Ter Single submitter
- p.Cys5921Ter Single submitter
- p.Cys5983Ter Single submitter Monogenic hearing loss
- p.Gln1227Ter Single submitter
- p.Gln1926Ter Single submitter
- p.Gln1995Ter Single submitter
- p.Gln2036Ter Single submitter
- p.Gln2088fs Single submitter
- p.Gln2088Ter Single submitter inherited retinal dystrophy
- p.Gln2356fs Single submitter
- p.Gln2447Ter Single submitter Usher syndrome type 2C
- p.Gln2601Ter Single submitter
- p.Gln2723fs Single submitter
- p.Gln3109Ter Single submitter
- p.Gln317Ter Single submitter
- p.Gln326fs Single submitter
- p.Gln3362Ter Single submitter
- p.Gln3524Ter Single submitter Usher syndrome
- p.Gln3658Ter Single submitter
- p.Gln3980Ter Single submitter Usher syndrome
- p.Gln4121Ter Single submitter
- p.Gln4282fs Single submitter
- p.Gln4368Ter Single submitter
- p.Gln4887Ter Single submitter
- p.Gln5059Ter Single submitter
- p.Gln5082Ter Single submitter
- p.Gln526Ter Single submitter
- p.Gln5297Ter Single submitter
- p.Gln5459Ter Single submitter
- p.Gln5637Ter Single submitter
- p.Gln5830Ter Single submitter
- p.Gln5861Ter Single submitter
- p.Gln5984Ter Single submitter
- p.Gln6088fs Single submitter
- p.Gln613Ter Single submitter
- p.Gln938Ter Single submitter Usher syndrome
- p.Glu1168fs Single submitter
- p.Glu1198Ter Single submitter
- p.Glu1391fs Single submitter
- p.Glu1584fs Single submitter
- p.Glu2103Ter Single submitter
- p.Glu2246Ter Single submitter
- p.Glu2298fs Single submitter
- p.Glu2314fs Single submitter
- p.Glu2459fs Single submitter Rare genetic deafness
- p.Glu2607Ter Single submitter
- p.Glu2839Ter Single submitter
- p.Glu3106fs Single submitter
- p.Glu3144Ter Single submitter
- p.Glu3535Ter Single submitter
- p.Glu3593Ter Single submitter
- p.Glu3667Ter Single submitter Usher syndrome type 2C
- p.Glu3730Ter Single submitter
- p.Glu3832fs Single submitter
- p.Glu3840Ter Single submitter
- p.Glu3905Ter Single submitter
- p.Glu4200Ter Single submitter
- p.Glu4231Ter Single submitter
- p.Glu4328Ter Single submitter
- p.Glu4336Ter Single submitter ADGRV1-related disorder
- p.Glu4477Ter Single submitter
- p.Glu4601fs Single submitter
- p.Glu478Ter Single submitter
- p.Glu479Ter Single submitter
- p.Glu500fs Single submitter
- p.Glu5088Ter Single submitter inherited retinal dystrophy
- p.Glu5139fs Single submitter
- p.Glu5323fs Single submitter
- p.Glu572fs Single submitter
- p.Glu6253Ter Single submitter
- p.Glu6295fs Single submitter
- p.Glu635fs Single submitter
- p.Glu736Ter Single submitter
- p.Glu768Ter Single submitter Rare genetic deafness
- p.Glu903Ter Single submitter
- p.Gly1066fs Single submitter Usher syndrome type 2
- p.Gly1276fs Single submitter Usher syndrome type 2C
- p.Gly1573fs Single submitter
- p.Gly1748Ter Single submitter
- p.Gly210fs Single submitter
- p.Gly2628fs Single submitter
- p.Gly2856fs Single submitter
- p.Gly3053fs Single submitter
- p.Gly3198fs Single submitter
- p.Gly3523fs Single submitter
- p.Gly3570fs Single submitter
- p.Gly3895Ter Single submitter
- p.Gly4066fs Single submitter
- p.Gly4587fs Single submitter
- p.Gly4845fs Single submitter
- p.Gly5032fs Single submitter
- p.Gly5337fs Single submitter
- p.Gly5383Ter Single submitter
- p.Gly76fs Single submitter Usher syndrome
- p.His3584fs Single submitter
- p.His5978fs Single submitter
- p.His855fs Single submitter
- p.Ile1243delinsPhePhePhePhePhePheXaaXaaXaaXaaTer Single submitter
- p.Ile1372fs Single submitter
- p.Ile147_Ser148insTer Single submitter
- p.Ile1931fs Single submitter
- p.Ile2276fs Single submitter
- p.Ile2672fs Single submitter
- p.Ile4006fs Single submitter
- p.Ile4076delinsValAspGluSerArgTer Single submitter
- p.Ile4102fs Single submitter
- p.Ile4399fs Single submitter
- p.Ile4517fs Single submitter
- p.Ile5643fs Single submitter
- p.Ile6047fs Single submitter
- p.Ile675fs Single submitter
- p.Leu1207_Val1208insTer Single submitter
- p.Leu1303Ter Single submitter
- p.Leu1425fs Single submitter
- p.Leu1563Ter Single submitter
- p.Leu1706fs Single submitter
- p.Leu2083Ter Single submitter
- p.Leu2303Ter Single submitter
- p.Leu3007fs Single submitter
- p.Leu3047Ter Single submitter ADGRV1-related disorder
- p.Leu3086fs Single submitter
- p.Leu3475fs Single submitter
- p.Leu363fs Single submitter
- p.Leu3709fs Single submitter
- p.Leu3879fs Single submitter retinal disorder
- p.Leu4565fs Single submitter Usher syndrome type 2C
- p.Leu4665fs Single submitter
- p.Leu4977_Ser4978insTer Single submitter
- p.Leu5063Pro Single submitter
- p.Leu5195fs Single submitter
- p.Leu5380fs Single submitter
- p.Leu5452fs Single submitter
- p.Leu5515fs Single submitter
- p.Leu553fs Single submitter ADGRV1-related disorder
- p.Leu5751fs Single submitter
- p.Leu995fs Single submitter
- p.Lys1412fs Single submitter
- p.Lys1417fs Single submitter
- p.Lys1544Ter Single submitter
- p.Lys1786Ter Single submitter
- p.Lys2555Ter Single submitter
- p.Lys3415fs Single submitter
- p.Lys3622fs Single submitter
- p.Lys5762Ter Single submitter
- p.Phe149fs Single submitter
- p.Phe1661fs Single submitter
- p.Phe2154fs Single submitter
- p.Phe2479fs Single submitter
- p.Phe2847fs Single submitter
- p.Phe3272fs Single submitter
- p.Phe3774fs Single submitter
- p.Phe4234fs Single submitter Usher syndrome type 2C
- p.Phe4514fs Single submitter
- p.Phe4841fs Single submitter
- p.Phe6023fs Single submitter
- p.Phe668fs Single submitter
- p.Phe974fs Single submitter
- p.Pro1583fs Single submitter
- p.Pro3449fs Single submitter
- p.Pro4638fs Single submitter
- p.Pro4724fs Single submitter
- p.Pro5552fs Single submitter
- p.Pro5602fs Single submitter
- p.Pro6210fs Single submitter
- p.Pro88fs Single submitter
- p.Ser154Ter Single submitter
- p.Ser1568fs Single submitter
- p.Ser2934fs Single submitter
- p.Ser2936Ter Single submitter Usher syndrome
- p.Ser3201fs Single submitter
- p.Ser3287fs Single submitter
- p.Ser3288fs Single submitter
- p.Ser3591Ter Single submitter
- p.Ser3772fs Single submitter
- p.Ser4048Ter Single submitter
- p.Ser4124fs Single submitter
- p.Ser4350fs Single submitter
- p.Ser4438fs Single submitter
- p.Ser4874fs Single submitter
- p.Ser4949fs Single submitter
- p.Ser5722fs Single submitter
- p.Ser5802fs Single submitter
- p.Ser5888Ter Single submitter
- p.Ser5912fs Single submitter
- p.Ser6039fs Single submitter
- p.Ser804fs Single submitter
- p.Thr1172_Ser1173insTer Single submitter
- p.Thr1886fs Single submitter
- p.Thr2567delinsPhePhePhePhePhePheXaaXaaXaaXaaAspLeuValIleArgProProArgProProLysValLeuGlyLeuGlnAlaTer Single submitter
- p.Thr3354fs Single submitter Rare genetic deafness
- p.Thr3643fs Single submitter
- p.Thr3740fs Single submitter
- p.Thr3841_Ile3842insTer Single submitter
- p.Thr4354fs Single submitter
- p.Thr4489fs Single submitter
- p.Thr4750fs Single submitter
Pathogenic/Likely pathogenic 89
- c.10054-1G>T Multiple submitters ADGRV1-related disorder
- c.1239-1G>T Multiple submitters febrile seizures, familial, 4
- c.13232-1G>A Multiple submitters Usher syndrome type 2C
- c.14972+1G>T Multiple submitters Usher syndrome type 2C
- c.14973-2A>G Multiple submitters Usher syndrome
- c.17204+4_17204+7del Multiple submitters ADGRV1-related disorder
- c.6491-1G>A Multiple submitters Usher syndrome type 2C
- c.8824+1del Multiple submitters Usher syndrome type 2C
- c.9749-2del Multiple submitters febrile seizures, familial, 4
- c.9907-1G>A Multiple submitters ADGRV1-related disorder
- p.Ala1468fs Multiple submitters ADGRV1-related disorder
- p.Ala3579fs Multiple submitters retinal disorder
- p.Ala6216fs Multiple submitters ADGRV1-related disorder
- p.Arg2377Gln Multiple submitters ADGRV1-related disorder
- p.Arg2377Ter Multiple submitters ADGRV1-related disorder
- p.Arg2733Ter Multiple submitters ADGRV1-related disorder
- p.Arg2959Ter Multiple submitters febrile seizures, familial, 4
- p.Arg3147Ter Multiple submitters ADGRV1-related disorder
- p.Arg3293Ter Multiple submitters retinal disorder
- p.Arg3405Ter Multiple submitters Monogenic hearing loss
- p.Arg4071Ter Multiple submitters Usher syndrome
- p.Arg4146Ter Multiple submitters ADGRV1-related disorder
- p.Arg4211Ter Multiple submitters Rare genetic deafness
- p.Arg4542fs Multiple submitters ADGRV1-related disorder
- p.Arg4789Gln Multiple submitters
- p.Arg4802Ter Multiple submitters ADGRV1-related disorder
- p.Arg4819fs Multiple submitters Usher syndrome type 2C
- p.Arg493Ter Multiple submitters ear malformation
- p.Arg4991Ter Multiple submitters febrile seizures, familial, 4
- p.Arg535Ter Multiple submitters ADGRV1-related disorder
- p.Arg5409Ter Multiple submitters inherited retinal dystrophy
- p.Arg6009Ter Multiple submitters ADGRV1-related disorder
- p.Arg800Ter Multiple submitters Rare genetic deafness
- p.Arg813Ter Multiple submitters ADGRV1-related disorder
- p.Arg920Ter Multiple submitters ADGRV1-related disorder
- p.Asn5479fs Multiple submitters ADGRV1-related disorder
- p.Asp195fs Multiple submitters febrile seizures, familial, 4
- p.Asp197_Leu198insTer Multiple submitters ADGRV1-related disorder
- p.Asp2806fs Multiple submitters ADGRV1-related disorder
- p.Gln1481Ter Multiple submitters
- p.Gln1771Ter Multiple submitters ADGRV1-related disorder
- p.Gln2204Ter Multiple submitters Usher syndrome type 2C
- p.Gln2238fs Multiple submitters ADGRV1-related disorder
- p.Gln2301Ter Multiple submitters ADGRV1-related disorder
- p.Gln4777Ter Multiple submitters Usher syndrome
- p.Gln5375fs Multiple submitters ADGRV1-related disorder
- p.Gln6084Ter Multiple submitters ADGRV1-related disorder
- p.Glu2783Ter Multiple submitters
- p.Glu4200fs Multiple submitters ADGRV1-related disorder
- p.Glu6007fs Multiple submitters ADGRV1-related disorder
- p.Glu651fs Multiple submitters ADGRV1-related disorder
- p.Glu966= Multiple submitters ADGRV1-related disorder
- p.Gly4293fs Multiple submitters ADGRV1-related disorder
- p.Gly5306Ter Multiple submitters ADGRV1-related disorder
- p.Gly5768fs Multiple submitters Rare genetic deafness
- p.Gly6243_Tyr6244insTer Multiple submitters ADGRV1-related disorder
- p.Gly871fs Multiple submitters Usher syndrome type 2C
- p.His4952fs Multiple submitters ADGRV1-related disorder
- p.Ile351fs Multiple submitters ADGRV1-related disorder
- p.Ile3849fs Multiple submitters Usher syndrome type 2C
- p.Leu1303fs Multiple submitters febrile seizures, familial, 4
- p.Leu1398fs Multiple submitters ADGRV1-related disorder
- p.Leu393fs Multiple submitters ADGRV1-related disorder
- p.Leu4425fs Multiple submitters Usher syndrome
- p.Leu568fs Multiple submitters ADGRV1-related disorder
- p.Lys2741Ter Multiple submitters ADGRV1-related disorder
- p.Phe3493fs Multiple submitters febrile seizures, familial, 4
- p.Pro352Leu Multiple submitters Usher syndrome
- p.Pro4181fs Multiple submitters febrile seizures, familial, 4
- p.Ser1122fs Multiple submitters febrile seizures, familial, 4
- p.Ser1524Ter Multiple submitters Usher syndrome type 2C
- p.Ser1982fs Multiple submitters Usher syndrome
- p.Ser2674fs Multiple submitters ADGRV1-related disorder
- p.Ser394fs Multiple submitters ADGRV1-related disorder
- p.Ser4992Ter Multiple submitters ADGRV1-related disorder
- p.Ser5371fs Multiple submitters ADGRV1-related disorder
- p.Ser5888fs Multiple submitters Rare genetic deafness
- p.Ser744fs Multiple submitters ADGRV1-related disorder
- p.Thr1458fs Multiple submitters Usher syndrome type 2C
- p.Thr2082fs Multiple submitters ADGRV1-related disorder
- p.Thr2264fs Multiple submitters ADGRV1-related disorder
- p.Thr3060fs Multiple submitters ADGRV1-related disorder
- p.Trp1285Ter Multiple submitters Usher syndrome type 2C
- p.Trp2964Ter Multiple submitters ADGRV1-related disorder
- p.Trp5987Ter Multiple submitters Usher syndrome type 2C
- p.Tyr5745Ter Multiple submitters
- p.Tyr759Ter Multiple submitters febrile seizures, familial, 4
- p.Val1990fs Multiple submitters ADGRV1-related disorder
- p.Val5201fs Multiple submitters ADGRV1-related disorder
Likely pathogenic 201
- c.10974+1G>A Multiple submitters Usher syndrome type 2C
- c.11581-2A>G Multiple submitters
- c.11757+2T>C Multiple submitters Usher syndrome type 2C
- c.13654-2A>G Multiple submitters ADGRV1-related disorder
- c.14973-1G>A Multiple submitters ADGRV1-related disorder
- c.17455-2A>T Multiple submitters ADGRV1-related disorder
- c.17973+1G>A Multiple submitters ADGRV1-related disorder
- c.2017-1G>A Multiple submitters Usher syndrome type 2C
- c.9623+1G>A Multiple submitters Usher syndrome type 2C
- c.10426+1G>A Single submitter ADGRV1-related disorder
- c.10549+1G>A Single submitter
- c.10975-2A>C Single submitter
- c.11377+1G>A Single submitter
- c.11757+1G>A Single submitter
- c.11757+2T>A Single submitter
- c.11941-1G>C Single submitter
- c.12120+1_12120+2del Single submitter
- c.12120+1G>A Single submitter
- c.12285+1G>T Single submitter
- c.12528-17T>G Single submitter
- c.12666+1G>T Single submitter
- c.12849+1G>T Single submitter
- c.12850-1G>T Single submitter
- c.13082+1G>A Single submitter
- c.13083-1G>A Single submitter
- c.13231+1G>A Single submitter
- c.13232-3C>G Single submitter ADGRV1-related disorder
- c.13433+2T>C Single submitter
- c.13434-2A>T Single submitter
- c.13894-1G>C Single submitter
- c.14044-1G>A Single submitter
- c.14661+717A>G Single submitter Usher syndrome
- c.14662-2A>C Single submitter
- c.14972+2T>C Single submitter ADGRV1-related disorder
- c.14973-17_14973-2delinsAGG Single submitter ADGRV1-related disorder
- c.16078+1G>A Single submitter ADGRV1-related disorder
- c.16196+1G>T Single submitter Usher syndrome
- c.16197-1G>A Single submitter
- c.16368+1G>A Single submitter Usher syndrome type 2C
- c.16368+2T>C Single submitter Usher syndrome type 2C
- c.16611+1G>A Single submitter
- c.17205-2A>G Single submitter ADGRV1-related disorder
- c.17455-2A>G Single submitter
- c.17594+1G>T Single submitter
- c.17756-1G>A Single submitter Usher syndrome type 2C
- c.17857-1G>C Single submitter ADGRV1-related disorder
- c.18152+1G>A Single submitter
- c.18152+1G>T Single submitter
- c.1840-1G>C Single submitter
- c.18433-1G>A Single submitter
- c.18433-2A>G Single submitter
- c.18625-1G>T Single submitter
- c.18625-2A>G Single submitter
- c.2016+1G>T Single submitter
- c.23-1G>A Single submitter
- c.2367+2T>A Single submitter Usher syndrome type 2C
- c.2553+1G>A Single submitter
- c.2785_2898+82del Single submitter
- c.2898+2T>C Single submitter Usher syndrome
- c.3022+2T>G Single submitter
- c.3289+1G>A Single submitter
- c.3635-2A>G Single submitter ADGRV1-related disorder
- c.4379-1G>A Single submitter retinitis pigmentosa
- c.453+1G>A Single submitter
- c.4753-1G>T Single submitter Usher syndrome type 2C
- c.5312_5313+1del Single submitter
- c.5314-2A>G Single submitter Usher syndrome type 2C
- c.5444-2A>C Single submitter
- c.5524+2T>C Single submitter
- c.558+1G>T Single submitter
- c.559-1G>A Single submitter Usher syndrome type 2C
- c.5664+1G>A Single submitter
- c.5665-231C>T Single submitter Usher syndrome type 2C
- c.6707-1G>T Single submitter
- c.673-2A>G Single submitter
- c.7134-2A>T Single submitter Usher syndrome type 2C
- c.8155+2_8155+3del Single submitter
- c.8156-1G>A Single submitter
- c.8731-2A>G Single submitter Usher syndrome type 2C
- c.8824+1G>A Single submitter
- c.9447+1G>T Single submitter
- c.9623+1G>T Single submitter
- c.9623+3A>G Single submitter ADGRV1-related disorder
- c.9748_9748+8del Single submitter
- c.9748+1G>A Single submitter ADGRV1-related disorder
- c.9749-1G>T Single submitter
- p.Ala1630delinsIleCysTer Single submitter Usher syndrome type 2C
- p.Ala2217fs Single submitter Usher syndrome type 2C
- p.Ala4408fs Single submitter ADGRV1-related disorder
- p.Ala5507fs Single submitter ADGRV1-related disorder
- p.Arg1010_Val1011insTer Single submitter ADGRV1-related disorder
- p.Arg1598fs Single submitter ADGRV1-related disorder
- p.Arg2260Ter Single submitter Usher syndrome
- p.Arg402fs Single submitter ADGRV1-related disorder
- p.Asn142fs Single submitter
- p.Asn3647fs Single submitter ADGRV1-related disorder
- p.Asn3794fs Single submitter ADGRV1-related disorder
- p.Asn3828fs Single submitter ADGRV1-related disorder
- p.Asp2592fs Single submitter ADGRV1-related disorder
- p.Asp3070Tyr Single submitter Usher syndrome type 2C
- p.Asp407fs Single submitter
- p.Asp510fs Single submitter Usher syndrome type 2C
- p.Cys5446Arg Single submitter Usher syndrome type 2C
- p.Cys5729Ter Single submitter Usher syndrome type 2C
- p.Gln2949Ter Single submitter Usher syndrome type 2C
- p.Gln3192Ter Single submitter ADGRV1-related disorder
- p.Gln3400Ter Single submitter Usher syndrome type 2C
- p.Gln4373Ter Single submitter ADGRV1-related disorder
- p.Gln4551Pro Single submitter ADGRV1-related disorder
- p.Gln460Ter Single submitter Usher syndrome type 2C
- p.Gln591fs Single submitter febrile seizures, familial, 4
- p.Gln753fs Single submitter febrile seizures, familial, 4
- p.Glu1201Ter Single submitter ADGRV1-related disorder
- p.Glu1659Ter Single submitter ADGRV1-related disorder
- p.Glu1942Ter Single submitter
- p.Glu2077fs Single submitter Usher syndrome
- p.Glu2180fs Single submitter ADGRV1-related disorder
- p.Glu2446fs Single submitter ADGRV1-related disorder
- p.Glu2669fs Single submitter ADGRV1-related disorder
- p.Glu2917Ter Single submitter ADGRV1-related disorder
- p.Glu3359Ter Single submitter Usher syndrome
- p.Glu3748Ter Single submitter Usher syndrome type 2C
- p.Glu3793fs Single submitter ADGRV1-related disorder
- p.Glu4127fs Single submitter Usher syndrome type 2C
- p.Glu4618Ter Single submitter Usher syndrome type 2C
- p.Glu4809Ter Single submitter ADGRV1-related disorder
- p.Glu5098Ter Single submitter ADGRV1-related disorder
- p.Glu867Ter Single submitter ADGRV1-related disorder
- p.Glu966Asp Single submitter Usher syndrome type 2C ⚠
- p.Gly2263_Thr2264insGly Single submitter ADGRV1-related disorder
- p.Gly3753fs Single submitter ADGRV1-related disorder
- p.Gly4171Cys Single submitter ADGRV1-related myoclonic epilepsy
- p.Gly4206fs Single submitter ADGRV1-related disorder
- p.Gly4792fs Single submitter
- p.Ile411fs Single submitter ADGRV1-related disorder
- p.Ile4596fs Single submitter ADGRV1-related disorder
- p.Ile51fs Single submitter ADGRV1-related disorder
- p.Ile6203fs Single submitter ADGRV1-related disorder
- p.Ile725fs Single submitter ADGRV1-related disorder
- p.Leu2265fs Single submitter ADGRV1-related disorder
- p.Leu3284Ter Single submitter Usher syndrome type 2C
- p.Leu373_Ile374insTer Single submitter ADGRV1-related disorder
- p.Leu4465Ter Single submitter ADGRV1-related disorder
- p.Leu4536fs Single submitter ADGRV1-related disorder
- p.Leu4930Ter Single submitter febrile seizures, familial, 4
- p.Leu5025fs Single submitter ADGRV1-related disorder
- p.Lys5453Ter Single submitter Usher syndrome type 2C
- p.Lys5456Asn Single submitter hearing loss disorder ⚠
- p.Lys5511fs Single submitter
- p.Phe3200fs Single submitter Usher syndrome type 2C
- p.Phe3884fs Single submitter ADGRV1-related disorder
- p.Phe4034Cys Single submitter Rare genetic deafness
- p.Phe4118fs Single submitter Usher syndrome type 2C
- p.Phe6182fs Single submitter ADGRV1-related disorder
- p.Phe710fs Single submitter ADGRV1-related disorder
- p.Pro2028fs Single submitter Usher syndrome type 2C
- p.Ser1613fs Single submitter Usher syndrome type 2C
- p.Ser4772Ter Single submitter Usher syndrome type 2C
- p.Ser894fs Single submitter Usher syndrome type 2C
- p.Thr2057fs Single submitter ADGRV1-related disorder
- p.Thr2907fs Single submitter Usher syndrome type 2C
- p.Thr48fs Single submitter ADGRV1-related disorder
- p.Thr4923fs Single submitter ADGRV1-related disorder
- p.Thr5095fs Single submitter ADGRV1-related disorder
- p.Thr5660fs Single submitter ADGRV1-related disorder
- p.Trp1139Leu Single submitter ⚠
- p.Trp1424Ter Single submitter Usher syndrome type 2C
- p.Trp1903Ter Single submitter Usher syndrome type 2C
- p.Trp4301Ter Single submitter ADGRV1-related disorder
- p.Trp5859Ter Single submitter Usher syndrome type 2C
- p.Trp6213Ter Single submitter febrile seizures, familial, 4
- p.Tyr1344fs Single submitter ADGRV1-related disorder
- p.Tyr1486Ter Single submitter ADGRV1-related disorder
- p.Tyr5840fs Single submitter Usher syndrome type 2C
- p.Tyr5882Cys Single submitter febrile seizures, familial, 4 ⚠
- p.Tyr5896Ter Single submitter ADGRV1-related disorder
- p.Tyr6044Cys Single submitter ADGRV1-related disorder
- p.Val1933fs Single submitter ADGRV1-related disorder
- p.Val4386fs Single submitter Usher syndrome
- p.Val617fs Single submitter ADGRV1-related disorder
- c.10426+5G>A No assertion criteria inherited retinal dystrophy
- c.1239-8C>G No assertion criteria Usher syndrome type 2C
- c.12403+1G>T No assertion criteria Usher syndrome type 2C
- c.16079-1455_c.16196+155del No assertion criteria Usher syndrome type 2C
- c.16197-1G>T No assertion criteria Usher syndrome type 2C
- c.4752+2T>G No assertion criteria Usher syndrome type 2C
- p.Asp4707Tyr No assertion criteria Usher syndrome type 1 ⚠
- p.Gln1275Ter No assertion criteria ADGRV1-related disorder
- p.Gln4839His No assertion criteria Usher syndrome ⚠
- p.Gly3072Ser No assertion criteria idiopathic generalized epilepsy ⚠
- p.Gly5377Ter No assertion criteria Usher syndrome type 2C
- p.Ile1371Thr No assertion criteria inherited retinal dystrophy
- p.Leu1314Ter No assertion criteria Usher syndrome type 2C
- p.Leu1464Arg No assertion criteria Usher syndrome type 2C
- p.Leu1835fs No assertion criteria inherited retinal dystrophy
- p.Lys1504Ter No assertion criteria Usher syndrome type 2C
- p.Pro5732fs No assertion criteria retinitis pigmentosa
- p.Ser2537fs No assertion criteria Usher syndrome type 2C
- p.Thr2947fs No assertion criteria Usher syndrome type 2C
- p.Tyr1170Ser No assertion criteria idiopathic generalized epilepsy ⚠
- p.Val3410dup No assertion criteria Rare genetic deafness
Conflicting classifications of pathogenicity 861
Showing the top 300 by review status; the full set is in the sitemap.
- c.10550-7C>T Single submitter Usher syndrome type 2C
- c.12286-10T>C Single submitter
- c.12528-7G>C Single submitter
- c.13083-12T>A Single submitter
- c.13433+9A>G Single submitter Usher syndrome type 2C
- c.13654-7C>T Single submitter
- c.13893+1G>A Single submitter febrile seizures, familial, 4
- c.14043+7C>T Single submitter Usher syndrome type 2C
- c.14518-5T>G Single submitter
- c.14837-8T>C Single submitter
- c.1510-7A>T Single submitter Usher syndrome type 2C
- c.1510-8_1510-4del Single submitter
- c.16079-11C>G Single submitter
- c.16369-2A>G Single submitter
- c.17204+6dup Single submitter
- c.17455-6T>C Single submitter Usher syndrome type 2C
- c.17595-4C>T Single submitter Usher syndrome type 2C
- c.17856+4G>A Single submitter
- c.17857-11G>A Single submitter
- c.17857-6T>C Single submitter
- c.17973+7A>G Single submitter
- c.18153-13A>T Single submitter Usher syndrome type 2C
- c.18433-13T>C Single submitter Usher syndrome type 2C
- c.18433-9_18433-5del Single submitter
- c.207+3A>G Single submitter Usher syndrome type 2C
- c.22+6C>T Single submitter
- c.2734+8A>G Single submitter
- c.2735-8T>C Single submitter
- c.3022+4G>A Single submitter
- c.3022+8T>C Single submitter Usher syndrome type 2C
- c.3416+7A>G Single submitter Usher syndrome type 2C
- c.3416+9A>G Single submitter Usher syndrome type 2C
- c.357+8C>T Single submitter
- c.4378+11T>C Single submitter Usher syndrome type 2C
- c.4753-4T>C Single submitter
- c.4929+6C>T Single submitter
- c.6275-9G>T Single submitter
- c.6951+13G>A Single submitter Usher syndrome type 2C
- c.7133+3A>G Single submitter
- c.8156-6T>C Single submitter
- c.8286+4A>G Single submitter
- c.8287-1G>C Single submitter Usher syndrome type 2C
- c.8386+12T>C Single submitter Usher syndrome type 2C
- c.8730+9_8730+10del Single submitter
- c.8824+10G>A Single submitter Usher syndrome type 2C
- c.8903+11G>A Single submitter
- c.8904-13T>C Single submitter
- c.9447+3A>T Single submitter ADGRV1-related disorder
- c.9447+6G>A Single submitter Usher syndrome type 2C
- c.9448-14G>A Single submitter Usher syndrome type 2C
- c.9623+8T>G Single submitter
- c.9906+9C>T Single submitter
- c.-44C>T Single submitter Usher syndrome type 2C
- c.*17C>T Single submitter Usher syndrome type 2C
- c.*18G>C Single submitter Usher syndrome type 2C
- c.*259A>G Single submitter Usher syndrome type 2C
- p.Ala1373Val Single submitter Usher syndrome type 2C ⚠
- p.Ala1444= Single submitter
- p.Ala1503Thr Single submitter Usher syndrome type 2C ⚠
- p.Ala1529Ser Single submitter Inborn genetic diseases ⚠
- p.Ala1561Thr Single submitter
- p.Ala156Thr Single submitter Inborn genetic diseases ⚠
- p.Ala1719Thr Single submitter Inborn genetic diseases ⚠
- p.Ala1719Val Single submitter ⚠
- p.Ala1755= Single submitter Usher syndrome type 2C
- p.Ala1755Val Single submitter Usher syndrome type 2C ⚠
- p.Ala1860Thr Single submitter
- p.Ala1914Thr Single submitter Inborn genetic diseases ⚠
- p.Ala1929Ser Single submitter Usher syndrome type 2 ⚠
- p.Ala1929Thr Single submitter Usher syndrome type 2C ⚠
- p.Ala2085Val Single submitter Inborn genetic diseases ⚠
- p.Ala2106Val Single submitter Usher syndrome type 2C
- p.Ala2146Pro Single submitter Inborn genetic diseases ⚠
- p.Ala2148Val Single submitter Inborn genetic diseases
- p.Ala2213Thr Single submitter
- p.Ala2344Ser Single submitter febrile seizures, familial, 4
- p.Ala2490Thr Single submitter Inborn genetic diseases ⚠
- p.Ala2576Gly Single submitter
- p.Ala2697= Single submitter Usher syndrome type 2C
- p.Ala2948Thr Single submitter Inborn genetic diseases ⚠
- p.Ala314Thr Single submitter Usher syndrome type 2C ⚠
- p.Ala3195Ser Single submitter ⚠
- p.Ala3217Val Single submitter febrile seizures, familial, 1 ⚠
- p.Ala3234Val Single submitter ⚠
- p.Ala3246Thr Single submitter Inborn genetic diseases
- p.Ala3691Thr Single submitter ⚠
- p.Ala3921Thr Single submitter Inborn genetic diseases ⚠
- p.Ala3983Thr Single submitter Inborn genetic diseases ⚠
- p.Ala4154Val Single submitter Inborn genetic diseases ⚠
- p.Ala4241Thr Single submitter ⚠
- p.Ala431= Single submitter
- p.Ala4396Thr Single submitter Usher syndrome type 2C ⚠
- p.Ala4573Val Single submitter Usher syndrome type 2C ⚠
- p.Ala4791= Single submitter
- p.Ala4921Thr Single submitter Usher syndrome type 2 ⚠
- p.Ala4984Ser Single submitter ⚠
- p.Ala502Val Single submitter ⚠
- p.Ala5049Thr Single submitter febrile seizures, familial, 4
- p.Ala5354Val Single submitter Inborn genetic diseases ⚠
- p.Ala5484Thr Single submitter Usher syndrome type 2 ⚠
- p.Ala5513Ser Single submitter Inborn genetic diseases ⚠
- p.Ala5513Thr Single submitter ⚠
- p.Ala562Ser Single submitter ⚠
- p.Ala5783= Single submitter
- p.Ala5886Asp Single submitter
- p.Ala5908Thr Single submitter ⚠
- p.Ala5957Thr Single submitter Inborn genetic diseases ⚠
- p.Ala5966Thr Single submitter ⚠
- p.Ala5972Thr Single submitter Inborn genetic diseases ⚠
- p.Ala5974Ser Single submitter Inborn genetic diseases ⚠
- p.Ala6127Thr Single submitter Inborn genetic diseases
- p.Ala6302= Single submitter Usher syndrome type 2C
- p.Ala89= Single submitter Usher syndrome type 2C
- p.Arg1010Cys Single submitter ⚠
- p.Arg1068Lys Single submitter Inborn genetic diseases ⚠
- p.Arg1144Gln Single submitter Inborn genetic diseases
- p.Arg1273= Single submitter
- p.Arg1319Pro Single submitter
- p.Arg1319Trp Single submitter ⚠
- p.Arg1320Cys Single submitter ⚠
- p.Arg1488Gln Single submitter ⚠
- p.Arg1517Ile Single submitter ⚠
- p.Arg1553His Single submitter Inborn genetic diseases ⚠
- p.Arg1662His Single submitter ⚠
- p.Arg1784Lys Single submitter Inborn genetic diseases ⚠
- p.Arg2090His Single submitter ⚠
- p.Arg2097His Single submitter Inborn genetic diseases
- p.Arg2336Gln Single submitter ⚠
- p.Arg2360Cys Single submitter Inborn genetic diseases ⚠
- p.Arg2384Trp Single submitter ⚠
- p.Arg2625Cys Single submitter Inborn genetic diseases ⚠
- p.Arg2625His Single submitter Usher syndrome type 2C ⚠
- p.Arg2733Leu Single submitter ⚠
- p.Arg285Gly Single submitter Usher syndrome type 2C
- p.Arg285His Single submitter
- p.Arg2940Thr Single submitter ⚠
- p.Arg3023Ser Single submitter ⚠
- p.Arg3087Ser Single submitter
- p.Arg3147Gln Single submitter febrile seizures, familial, 4 ⚠
- p.Arg3227Gln Single submitter
- p.Arg3436Ser Single submitter Usher syndrome type 2C
- p.Arg3536His Single submitter Inborn genetic diseases ⚠
- p.Arg3687His Single submitter Inborn genetic diseases ⚠
- p.Arg3741Cys Single submitter Inborn genetic diseases ⚠
- p.Arg3741His Single submitter Inborn genetic diseases ⚠
- p.Arg3780Cys Single submitter febrile seizures, familial, 4 ⚠
- p.Arg3780His Single submitter Inborn genetic diseases ⚠
- p.Arg3892Gln Single submitter ⚠
- p.Arg3943Gly Single submitter Inborn genetic diseases
- p.Arg402Met Single submitter Inborn genetic diseases ⚠
- p.Arg4071Gln Single submitter Usher syndrome type 2C ⚠
- p.Arg4117Cys Single submitter Usher syndrome type 2 ⚠
- p.Arg4117His Single submitter Usher syndrome type 2C ⚠
- p.Arg413= Single submitter Inborn genetic diseases
- p.Arg4142Trp Single submitter ⚠
- p.Arg4211Gln Single submitter Inborn genetic diseases ⚠
- p.Arg4277Leu Single submitter Usher syndrome type 2C ⚠
- p.Arg4299Gln Single submitter febrile seizures, familial, 4 ⚠
- p.Arg437Gln Single submitter Inborn genetic diseases
- p.Arg437Trp Single submitter Usher syndrome type 2C
- p.Arg4387Cys Single submitter Inborn genetic diseases ⚠
- p.Arg4499Cys Single submitter ⚠
- p.Arg4499His Single submitter Inborn genetic diseases ⚠
- p.Arg450Thr Single submitter ⚠
- p.Arg4542Gln Single submitter
- p.Arg4770Cys Single submitter Inborn genetic diseases ⚠
- p.Arg4789Trp Single submitter ADGRV1-related disorder
- p.Arg4802Gln Single submitter Usher syndrome type 2 ⚠
- p.Arg4911Gly Single submitter ADGRV1-related disorder
- p.Arg5112Cys Single submitter Inborn genetic diseases
- p.Arg5112His Single submitter ⚠
- p.Arg5246Gln Single submitter Inborn genetic diseases ⚠
- p.Arg5246Leu Single submitter Inborn genetic diseases ⚠
- p.Arg5277Cys Single submitter Usher syndrome type 2C ⚠
- p.Arg5277His Single submitter Inborn genetic diseases ⚠
- p.Arg52Cys Single submitter
- p.Arg52His Single submitter Usher syndrome type 2C
- p.Arg5310Cys Single submitter ⚠
- p.Arg535Gln Single submitter Inborn genetic diseases ⚠
- p.Arg5409Gln Single submitter Inborn genetic diseases ⚠
- p.Arg5547His Single submitter Usher syndrome type 2C ⚠
- p.Arg5688Gln Single submitter ⚠
- p.Arg5703His Single submitter Usher syndrome type 2
- p.Arg57Lys Single submitter Usher syndrome type 2C
- p.Arg580Thr Single submitter Inborn genetic diseases ⚠
- p.Arg5932= Single submitter
- p.Arg599Ser Single submitter Usher syndrome type 2C
- p.Arg6009Gln Single submitter
- p.Arg762His Single submitter Usher syndrome type 2C ⚠
- p.Arg800Gln Single submitter ADGRV1-related disorder
- p.Arg813Gln Single submitter ⚠
- p.Arg866Trp Single submitter Usher syndrome type 2C ⚠
- p.Arg920Gln Single submitter Usher syndrome type 2 ⚠
- p.Asn1354Ile Single submitter
- p.Asn1390Asp Single submitter Inborn genetic diseases ⚠
- p.Asn150Ser Single submitter febrile seizures, familial, 4 ⚠
- p.Asn1570Ser Single submitter Inborn genetic diseases ⚠
- p.Asn1572Asp Single submitter Usher syndrome type 2C
- p.Asn1629Asp Single submitter Inborn genetic diseases ⚠
- p.Asn192Asp Single submitter ⚠
- p.Asn1964= Single submitter
- p.Asn1985His Single submitter ⚠
- p.Asn2113Ser Single submitter ⚠
- p.Asn2207Ser Single submitter Inborn genetic diseases ⚠
- p.Asn2267Ser Single submitter Inborn genetic diseases ⚠
- p.Asn228= Single submitter
- p.Asn228Ser Single submitter ⚠
- p.Asn2428Asp Single submitter Inborn genetic diseases ⚠
- p.Asn2588Thr Single submitter ⚠
- p.Asn259= Single submitter Usher syndrome type 2C
- p.Asn2753Asp Single submitter ⚠
- p.Asn2841Asp Single submitter Inborn genetic diseases ⚠
- p.Asn2859Ser Single submitter ⚠
- p.Asn2923= Single submitter Usher syndrome type 2C
- p.Asn2955Ser Single submitter ⚠
- p.Asn3028Ser Single submitter
- p.Asn3316Lys Single submitter Inborn genetic diseases ⚠
- p.Asn3472Asp Single submitter Inborn genetic diseases ⚠
- p.Asn3727Ser Single submitter ⚠
- p.Asn4256Ile Single submitter Inborn genetic diseases ⚠
- p.Asn4531Ser Single submitter ⚠
- p.Asn4778Lys Single submitter ⚠
- p.Asn4847Ile Single submitter ⚠
- p.Asn5365Ser Single submitter ⚠
- p.Asn5425Asp Single submitter ⚠
- p.Asn5479Ser Single submitter Inborn genetic diseases ⚠
- p.Asn5759Ser Single submitter ⚠
- p.Asn600Ser Single submitter ADGRV1-related disorder ⚠
- p.Asn6141Ser Single submitter
- p.Asn6172= Single submitter Usher syndrome type 2C
- p.Asn6201His Single submitter ⚠
- p.Asn649Lys Single submitter ⚠
- p.Asn649Ser Single submitter ⚠
- p.Asn657His Single submitter Usher syndrome type 2C ⚠
- p.Asn820Ser Single submitter ⚠
- p.Asn825Ile Single submitter ADGRV1-related disorder ⚠
- p.Asp1042Gly Single submitter ⚠
- p.Asp1051Tyr Single submitter Usher syndrome type 2C ⚠
- p.Asp1085Tyr Single submitter ⚠
- p.Asp1116His Single submitter Inborn genetic diseases
- p.Asp1194His Single submitter Usher syndrome type 2C
- p.Asp1280Asn Single submitter inherited retinal dystrophy ⚠
- p.Asp1326Glu Single submitter
- p.Asp1376= Single submitter Usher syndrome type 2C
- p.Asp1459= Single submitter Inborn genetic diseases
- p.Asp1626= Single submitter Usher syndrome type 2C
- p.Asp1651Gly Single submitter Usher syndrome type 2C
- p.Asp1736Gly Single submitter Usher syndrome type 2C ⚠
- p.Asp1794Gly Single submitter
- p.Asp1858Glu Single submitter Usher syndrome type 2C
- p.Asp1908Asn Single submitter ⚠
- p.Asp1944Tyr Single submitter Usher syndrome type 2C ⚠
- p.Asp2020Val Single submitter
- p.Asp2039Gly Single submitter Inborn genetic diseases ⚠
- p.Asp222Asn Single submitter
- p.Asp2284Glu Single submitter Inborn genetic diseases
- p.Asp229Gly Single submitter Usher syndrome type 2C
- p.Asp2311Asn Single submitter Inborn genetic diseases
- p.Asp2325= Single submitter Usher syndrome type 2C
- p.Asp2335Glu Single submitter Inborn genetic diseases ⚠
- p.Asp2636Gly Single submitter Inborn genetic diseases ⚠
- p.Asp2668= Single submitter
- p.Asp2820Ala Single submitter ⚠
- p.Asp2820Gly Single submitter
- p.Asp297Glu Single submitter Inborn genetic diseases ⚠
- p.Asp3040Glu Single submitter Inborn genetic diseases ⚠
- p.Asp3071= Single submitter Usher syndrome type 2C
- p.Asp3164Glu Single submitter
- p.Asp321Tyr Single submitter Usher syndrome type 2C ⚠
- p.Asp324His Single submitter Inborn genetic diseases
- p.Asp3381Gly Single submitter Inborn genetic diseases ⚠
- p.Asp3550Tyr Single submitter Inborn genetic diseases ⚠
- p.Asp365Gly Single submitter ⚠
- p.Asp3992Asn Single submitter Usher syndrome type 2C
- p.Asp4094Gly Single submitter ⚠
- p.Asp4226Asn Single submitter
- p.Asp4339Glu Single submitter Inborn genetic diseases
- p.Asp4339Val Single submitter Inborn genetic diseases
- p.Asp4394Gly Single submitter
- p.Asp4414Asn Single submitter ⚠
- p.Asp4574= Single submitter Usher syndrome type 2C
- p.Asp4574Gly Single submitter ⚠
- p.Asp4729Asn Single submitter Inborn genetic diseases ⚠
- p.Asp4729Gly Single submitter ⚠
- p.Asp473Glu Single submitter Usher syndrome type 2C ⚠
- p.Asp4832Glu Single submitter Inborn genetic diseases ⚠
- p.Asp5147Gly Single submitter ⚠
- p.Asp5320Val Single submitter ⚠
- p.Asp5578Asn Single submitter ⚠
- p.Asp5622Gly Single submitter
- p.Asp601Tyr Single submitter
- p.Asp6252Asn Single submitter Inborn genetic diseases ⚠
- p.Asp680Gly Single submitter Usher syndrome type 2C
- p.Asp74= Single submitter
- p.Cys5446Ser Single submitter Usher syndrome type 2C
- p.Cys5729= Single submitter
- p.Gln1315Lys Single submitter ⚠
- p.Gln2204Lys Single submitter Inborn genetic diseases ⚠
- p.Gln2509= Single submitter Usher syndrome type 2C
- p.Gln2514Glu Single submitter Inborn genetic diseases ⚠
Benign 366
Showing the top 300 by review status; the full set is in the sitemap.
- c.10161+26G>T Multiple submitters Usher syndrome type 2C
- c.11581-3dup Multiple submitters
- c.13232-7A>G Multiple submitters
- c.14517+18A>G Multiple submitters
- c.18311-9dup Multiple submitters
- c.18433-17_18433-16insCT Multiple submitters Usher syndrome type 2C
- c.18625-7T>C Multiple submitters Usher syndrome type 2C
- c.2241-19G>T Multiple submitters Usher syndrome type 2C
- c.2367+8C>T Multiple submitters Usher syndrome type 2C
- c.2735-10C>A Multiple submitters Usher syndrome type 2C
- c.2735-34C>G Multiple submitters Usher syndrome type 2C
- c.4752+19G>T Multiple submitters
- c.6952-10G>A Multiple submitters Usher syndrome type 2C
- c.7945+27C>A Multiple submitters Usher syndrome type 2C
- c.8567-13C>T Multiple submitters
- c.9907-35A>C Multiple submitters Usher syndrome type 2C
- c.-47G>C Multiple submitters Usher syndrome type 2C
- c.-98G>A Multiple submitters Usher syndrome type 2C
- c.*60A>G Multiple submitters Usher syndrome type 2C
- p.Ala1047= Multiple submitters Usher syndrome type 2C
- p.Arg2097Cys Multiple submitters Usher syndrome type 2C
- p.Arg5388= Multiple submitters Usher syndrome type 2C
- p.Asn1985Asp Multiple submitters Usher syndrome type 2C
- p.Asn2345Ser Multiple submitters Usher syndrome type 2C
- p.Asn2584Ser Multiple submitters Usher syndrome type 2C
- p.Asn4885Ser Multiple submitters Usher syndrome type 2C
- p.Asp3827= Multiple submitters Usher syndrome type 2C
- p.Asp667= Multiple submitters Usher syndrome type 2C
- p.Gln2107Pro Multiple submitters Usher syndrome type 2C
- p.Gln3624= Multiple submitters Usher syndrome type 2C
- p.Glu2402= Multiple submitters Usher syndrome type 2C
- p.Glu3471Lys Multiple submitters Usher syndrome type 2C
- p.Glu3867Lys Multiple submitters Usher syndrome type 2C
- p.Gly1782= Multiple submitters Usher syndrome type 2C
- p.Gly6247= Multiple submitters Usher syndrome type 2C
- p.Ile2526Val Multiple submitters Usher syndrome type 2C
- p.Leu1093Phe Multiple submitters Usher syndrome type 2C
- p.Leu127Arg Multiple submitters Usher syndrome type 2C
- p.Leu2004Phe Multiple submitters Usher syndrome type 2C
- p.Leu2605Val Multiple submitters Usher syndrome type 2C
- p.Leu2846= Multiple submitters Usher syndrome type 2C
- p.Met6159Val Multiple submitters Usher syndrome type 2C
- p.Phe4677Leu Multiple submitters Usher syndrome type 2C
- p.Pro1987Leu Multiple submitters Usher syndrome type 2C
- p.Pro3309= Multiple submitters Usher syndrome type 2C
- p.Pro3894= Multiple submitters Usher syndrome type 2C
- p.Pro4346Leu Multiple submitters Usher syndrome type 2C
- p.Ser2764Leu Multiple submitters Usher syndrome type 2C
- p.Ser3257= Multiple submitters Usher syndrome type 2C
- p.Thr1916Ile Multiple submitters Usher syndrome type 2C
- p.Thr1927Met Multiple submitters Usher syndrome type 2C
- p.Thr4533= Multiple submitters Usher syndrome type 2C
- p.Thr5650Ser Multiple submitters Usher syndrome type 2C
- p.Trp4969Arg Multiple submitters Usher syndrome type 2C
- p.Tyr2232Cys Multiple submitters Usher syndrome type 2C
- p.Tyr2410Cys Multiple submitters Usher syndrome type 2C
- p.Val1951Ile Multiple submitters Usher syndrome type 2C
- p.Val3094Ile Multiple submitters Usher syndrome type 2C
- p.Val4198Met Multiple submitters Usher syndrome type 2C
- p.Val5427Met Multiple submitters Usher syndrome type 2C
- p.Val551Ala Multiple submitters Usher syndrome type 2C
- p.Val5876Ile Multiple submitters Usher syndrome type 2C
- c.10054-74A>G Single submitter
- c.10161+218C>T Single submitter
- c.10161+35del Single submitter
- c.10162-202A>T Single submitter
- c.10162-209T>C Single submitter
- c.10426+52C>G Single submitter
- c.10427-297G>A Single submitter
- c.10427-306T>G Single submitter
- c.10427-83_10427-81del Single submitter
- c.10549+119dup Single submitter
- c.10549+183A>C Single submitter
- c.10549+261C>G Single submitter
- c.10769+143G>A Single submitter
- c.10769+18del Single submitter
- c.10769+79G>A Single submitter
- c.10770-120G>A Single submitter
- c.10770-24T>C Single submitter
- c.10974+286G>A Single submitter
- c.10975-4del Single submitter
- c.10975-4dup Single submitter
- c.11121+22A>G Single submitter
- c.11121+230T>C Single submitter
- c.11122-153A>G Single submitter
- c.11122-220dup Single submitter
- c.11122-24C>T Single submitter
- c.11122-303C>A Single submitter
- c.11122-334T>C Single submitter
- c.11377+174C>T Single submitter
- c.11580+84_11580+86dup Single submitter
- c.11757+30A>G Single submitter
- c.11940+217_11940+218insT Single submitter
- c.11940+302T>C Single submitter
- c.11940+78A>G Single submitter
- c.11941-145A>G Single submitter
- c.11941-348T>A Single submitter
- c.11941-47C>G Single submitter
- c.11941-96C>A Single submitter
- c.12120+227A>G Single submitter
- c.12120+48A>G Single submitter
- c.12121-121T>A Single submitter
- c.12121-140T>G Single submitter
- c.12121-142dup Single submitter
- c.12121-30G>T Single submitter
- c.12121-31del Single submitter
- c.12121-31dup Single submitter
- c.12121-32_12121-31dup Single submitter
- c.12285+120A>G Single submitter
- c.12285+150T>A Single submitter
- c.12285+190C>T Single submitter
- c.12285+217G>A Single submitter
- c.12285+422T>A Single submitter
- c.12286-109G>C Single submitter
- c.12286-325T>C Single submitter
- c.1238+142AC[20] Single submitter
- c.1238+142AC[21] Single submitter
- c.1238+142AC[23] Single submitter
- c.1238+142AC[24] Single submitter
- c.1238+142AC[25] Single submitter
- c.1238+142AC[26] Single submitter
- c.1238+14del Single submitter
- c.1238+74A>T Single submitter
- c.12404-59C>T Single submitter
- c.12528-332A>G Single submitter
- c.12666+91TG[7] Single submitter
- c.12667-147G>T Single submitter
- c.12850-36A>T Single submitter
- c.13082+126T>G Single submitter
- c.13082+146C>G Single submitter
- c.13083-219G>A Single submitter
- c.13231+156C>T Single submitter
- c.13232-268_13232-267dup Single submitter
- c.13653+98C>T Single submitter
- c.13654-239C>T Single submitter
- c.13654-52G>A Single submitter
- c.13893+20dup Single submitter
- c.14043+23dup Single submitter
- c.14043+75A>G Single submitter
- c.14044-13del Single submitter
- c.14044-13dup Single submitter
- c.14044-3del Single submitter
- c.14044-90del Single submitter
- c.14044-91_14044-90del Single submitter
- c.14044-98T>A Single submitter
- c.14517+275A>G Single submitter
- c.14662-249T>C Single submitter
- c.14662-8del Single submitter
- c.14837-8dup Single submitter
- c.14972+216A>G Single submitter
- c.14972+231T>G Single submitter
- c.14973-6del Single submitter
- c.14973-6dup Single submitter
- c.1510-51C>A Single submitter
- c.16079-4del Single submitter
- c.16079-4dup Single submitter
- c.16079-81T>A Single submitter
- c.16196+147T>C Single submitter
- c.16197-257A>G Single submitter
- c.16197-31G>A Single submitter
- c.16197-37C>T Single submitter
- c.16197-44G>A Single submitter
- c.16612-301C>T Single submitter
- c.17020-107T>A Single submitter
- c.17204+30C>A Single submitter
- c.17594+210A>G Single submitter
- c.17594+24dup Single submitter
- c.17756-11del Single submitter
- c.17856+215C>T Single submitter
- c.17856+21T>A Single submitter
- c.17973+73A>G Single submitter
- c.17974-116A>G Single submitter
- c.18310+175C>T Single submitter
- c.18311-119C>T Single submitter
- c.18311-22A>G Single submitter
- c.18311-307A>G Single submitter
- c.18311-9del Single submitter
- c.1839+222A>G Single submitter
- c.1839+32G>A Single submitter
- c.1839+54C>T Single submitter
- c.1840-302_1840-299del Single submitter
- c.18432+112T>C Single submitter
- c.18433-17_18433-16insCTT Single submitter
- c.18433-181dup Single submitter
- c.18433-182_18433-181dup Single submitter
- c.18433-183_18433-181dup Single submitter
- c.18433-184_18433-181dup Single submitter
- c.18433-185_18433-181dup Single submitter
- c.18433-5del Single submitter
- c.18624+245C>T Single submitter
- c.18625-7= Single submitter
- c.2016+316del Single submitter
- c.2016+53del Single submitter
- c.2017-253_2017-252del Single submitter
- c.2017-346A>G Single submitter
- c.207+82_207+85del Single submitter
- c.22+56C>T Single submitter
- c.2240+306dup Single submitter
- c.2240+309G>A Single submitter
- c.2240+73del Single submitter
- c.2241-149T>A Single submitter
- c.2241-193T>C Single submitter
- c.23-130G>A Single submitter
- c.23-14del Single submitter
- c.2367+8= Single submitter
- c.2553+209G>A Single submitter
- c.2554-140G>A Single submitter
- c.2734+236G>C Single submitter
- c.2734+305C>T Single submitter
- c.2898+59del Single submitter
- c.2898+85A>G Single submitter
- c.2899-42T>C Single submitter
- c.3022+320dup Single submitter
- c.3289+110C>T Single submitter
- c.3289+118G>A Single submitter
- c.3289+189T>G Single submitter
- c.3289+191del Single submitter
- c.3289+193A>T Single submitter
- c.3289+194C>A Single submitter
- c.3289+21dup Single submitter
- c.3289+74A>G Single submitter
- c.3290-174C>T Single submitter
- c.3290-216TC[3] Single submitter
- c.3416+148G>A Single submitter
- c.3417-164T>C Single submitter
- c.358-149A>G Single submitter
- c.358-199C>G Single submitter
- c.358-216A>G Single submitter
- c.358-289C>T Single submitter
- c.3634+13dup Single submitter
- c.4379-154_4379-152del Single submitter
- c.4379-172T>A Single submitter
- c.453+23A>C Single submitter
- c.454-169T>C Single submitter
- c.454-182C>A Single submitter
- c.454-80G>T Single submitter
- c.4752+89T>C Single submitter
- c.4753-197G>C Single submitter
- c.4753-274A>C Single submitter
- c.4929+234G>A Single submitter
- c.4929+87A>T Single submitter
- c.5110+107C>T Single submitter
- c.5110+180T>C Single submitter
- c.5110+49T>C Single submitter
- c.5444-164A>G Single submitter
- c.5444-281A>G Single submitter
- c.5444-283_5444-281del Single submitter
- c.5444-296C>T Single submitter
- c.5524+181A>G Single submitter
- c.5524+183T>A Single submitter
- c.558+103_558+110del Single submitter
- c.558+114A>C Single submitter
- c.558+116T>G Single submitter
- c.558+120del Single submitter
- c.558+124_558+125del Single submitter
- c.558+186T>C Single submitter
- c.558+207T>G Single submitter
- c.558+266C>G Single submitter
- c.558+295G>C Single submitter
- c.559-249dup Single submitter
- c.559-253T>C Single submitter
- c.5665-23T>C Single submitter
- c.6275-134_6275-131del Single submitter
- c.6275-182ATAA[10] Single submitter
- c.6275-182ATAA[12] Single submitter
- c.6275-182ATAA[8] Single submitter
- c.6275-182ATAA[9] Single submitter
- c.6275-212T>C Single submitter
- c.6490+167dup Single submitter
- c.6490+168G>T Single submitter
- c.6490+170G>A Single submitter
- c.6707-224C>A Single submitter
- c.6707-95G>C Single submitter
- c.672+56T>C Single submitter
- c.673-265G>A Single submitter
- c.6951+105T>G Single submitter
- c.6951+195A>G Single submitter
- c.6951+225dup Single submitter
- c.6951+274AT[5] Single submitter
- c.7133+48G>A Single submitter
- c.7946-157_7946-156insCA Single submitter
- c.8155+15_8155+16del Single submitter
- c.8155+16dup Single submitter
- c.8155+82T>C Single submitter
- c.8156-50_8156-41dup Single submitter
- c.8286+123G>A Single submitter
- c.8286+18dup Single submitter
- c.8287-238A>G Single submitter
- c.8287-252T>C Single submitter
- c.8386+244C>A Single submitter
- c.8387-3del Single submitter
- c.8566+90C>T Single submitter
- c.8567-289G>C Single submitter
- c.8567-60G>T Single submitter
- c.8730+11T>C Single submitter
- c.8730+82A>G Single submitter
- c.8730+9C>T Single submitter
- c.8731-74_8731-70del Single submitter
- c.8824+251C>T Single submitter
- c.8825-246T>G Single submitter
Benign/Likely benign 101
- c.10162-19A>T Multiple submitters
- c.10769+9A>G Multiple submitters Usher syndrome type 2C
- c.11378-20G>A Multiple submitters
- c.12527+6G>T Multiple submitters Usher syndrome type 2C
- c.13654-5C>T Multiple submitters Usher syndrome type 2C
- c.17756-11dup Multiple submitters
- c.17756-5T>C Multiple submitters
- c.17856+11G>A Multiple submitters Usher syndrome type 2C
- c.1839+7G>A Multiple submitters Usher syndrome type 2C
- c.18433-16T>C Multiple submitters
- c.18433-5dup Multiple submitters
- c.18433-7_18433-5del Multiple submitters
- c.18803-13A>G Multiple submitters Usher syndrome type 2C
- c.18803-4G>T Multiple submitters Usher syndrome type 2C
- c.22+9T>C Multiple submitters
- c.2241-10A>T Multiple submitters febrile seizures, familial, 4
- c.2553+11T>A Multiple submitters Usher syndrome type 2C
- c.5444-17dup Multiple submitters
- c.5525-7C>T Multiple submitters febrile seizures, familial, 4
- c.7945+6C>T Multiple submitters Usher syndrome type 2C
- c.8730+10_8730+11insC Multiple submitters Usher syndrome type 2C
- c.8730+20_8730+21dup Multiple submitters
- c.8730+21del Multiple submitters
- c.8730+21dup Multiple submitters Usher syndrome type 2C
- c.9907-16A>C Multiple submitters
- p.Ala2032Val Multiple submitters
- p.Ala2309Thr Multiple submitters
- p.Ala2431= Multiple submitters Usher syndrome type 2C
- p.Ala2803Thr Multiple submitters Usher syndrome type 2C
- p.Ala3854= Multiple submitters
- p.Ala4326= Multiple submitters
- p.Ala4741= Multiple submitters Usher syndrome type 2C
- p.Ala6091= Multiple submitters Usher syndrome type 2C
- p.Ala648= Multiple submitters
- p.Arg1319Gln Multiple submitters Usher syndrome type 2C
- p.Arg2128Gln Multiple submitters Usher syndrome type 2C
- p.Arg2360His Multiple submitters Usher syndrome type 2C
- p.Arg249Lys Multiple submitters Usher syndrome type 2C
- p.Arg2959Gln Multiple submitters Usher syndrome type 2C
- p.Arg4770His Multiple submitters Usher syndrome type 2C
- p.Arg762Cys Multiple submitters
- p.Asn2428= Multiple submitters Usher syndrome type 2C
- p.Asn3677= Multiple submitters Usher syndrome type 2C
- p.Asn3935= Multiple submitters Usher syndrome type 2C
- p.Asn606Thr Multiple submitters Usher syndrome type 2C
- p.Asn6157Ser Multiple submitters Usher syndrome type 2C
- p.Asn749= Multiple submitters
- p.Asp1085= Multiple submitters Usher syndrome type 2C
- p.Asp109= Multiple submitters Usher syndrome type 2C
- p.Asp1944Asn Multiple submitters Usher syndrome type 2C
- p.Asp2393= Multiple submitters Usher syndrome type 2C
- p.Asp4707= Multiple submitters
- p.Gln4839Glu Multiple submitters Usher syndrome type 2C
- p.Gln4981His Multiple submitters Inborn genetic diseases
- p.Gln5459His Multiple submitters Usher syndrome type 2C
- p.Glu1247= Multiple submitters
- p.Glu1420= Multiple submitters Usher syndrome type 2C
- p.Glu1535= Multiple submitters
- p.Glu1768= Multiple submitters Usher syndrome type 2C
- p.Glu2897Asp Multiple submitters Usher syndrome type 2C
- p.Glu3447Lys Multiple submitters
- p.Gly1097Ser Multiple submitters Usher syndrome type 2C ⚠
- p.Gly2045Arg Multiple submitters Usher syndrome type 2C
- p.Gly3599Ala Multiple submitters
- p.Gly5223= Multiple submitters Usher syndrome type 2C
- p.Ile1187Val Multiple submitters Usher syndrome type 2C
- p.Ile155Val Multiple submitters Usher syndrome type 2C
- p.Ile1647Val Multiple submitters Usher syndrome type 2C
- p.Ile2187Val Multiple submitters Usher syndrome type 2C
- p.Ile3376Val Multiple submitters Inborn genetic diseases
- p.Ile4666Val Multiple submitters Usher syndrome type 2C
- p.Leu2234= Multiple submitters
- p.Leu2696= Multiple submitters
- p.Leu2769= Multiple submitters
- p.Leu362= Multiple submitters
- p.Leu6249Arg Multiple submitters Usher syndrome type 2C
- p.Lys5673Glu Multiple submitters craniosynostosis
- p.Met3526Thr Multiple submitters Usher syndrome type 2C
- p.Phe2724= Multiple submitters
- p.Pro194His Multiple submitters Usher syndrome type 2C
- p.Ser1161Cys Multiple submitters febrile seizures, familial, 4
- p.Ser2711= Multiple submitters Usher syndrome type 2C
- p.Ser3203Thr Multiple submitters Usher syndrome type 2C
- p.Ser3646Pro Multiple submitters
- p.Ser377= Multiple submitters
- p.Ser5912Cys Multiple submitters
- p.Thr1099Ala Multiple submitters Usher syndrome type 2C
- p.Thr2651= Multiple submitters
- p.Thr3122= Multiple submitters Usher syndrome type 2C
- p.Thr4090Asn Multiple submitters Usher syndrome type 2C
- p.Thr4629= Multiple submitters
- p.Thr5614Ile Multiple submitters Usher syndrome type 2C
- p.Tyr1409= Multiple submitters
- p.Tyr1418= Multiple submitters Usher syndrome type 2C
- p.Tyr1622His Multiple submitters
- p.Tyr4429= Multiple submitters
- p.Val1101= Multiple submitters Usher syndrome type 2C
- p.Val2203Ala Multiple submitters Usher syndrome type 2C
- p.Val3856= Multiple submitters Usher syndrome type 2C
- p.Val4822= Multiple submitters Usher syndrome type 2C
- p.Thr2900= No assertion criteria
Likely benign 2976
Showing the top 300 by review status; the full set is in the sitemap.
- c.10054-13T>A Multiple submitters
- c.10054-16C>T Multiple submitters
- c.10161+9C>A Multiple submitters
- c.10162-92A>T Multiple submitters
- c.10427-4G>T Multiple submitters
- c.10549+11T>C Multiple submitters
- c.10550-104G>A Multiple submitters
- c.10550-15C>G Multiple submitters
- c.10769+71C>A Multiple submitters
- c.10770-18A>G Multiple submitters
- c.10974+9A>G Multiple submitters
- c.10975-112C>A Multiple submitters
- c.11377+16T>C Multiple submitters
- c.11580+10_11580+11del Multiple submitters
- c.11580+50T>G Multiple submitters
- c.11940+18A>G Multiple submitters
- c.12120+11C>T Multiple submitters
- c.12120+36G>A Multiple submitters
- c.12121-13T>C Multiple submitters
- c.12121-17G>T Multiple submitters
- c.12285+20T>C Multiple submitters
- c.1239-19T>G Multiple submitters
- c.12403+12T>G Multiple submitters
- c.12528-18A>G Multiple submitters
- c.12666+7A>G Multiple submitters
- c.12667-14_12667-13del Multiple submitters
- c.12849+15G>A Multiple submitters
- c.12850-31C>T Multiple submitters
- c.12850-4A>T Multiple submitters
- c.13082+133A>G Multiple submitters
- c.13083-20G>T Multiple submitters
- c.13083-55G>T Multiple submitters
- c.13083-68G>A Multiple submitters
- c.13433+15A>G Multiple submitters
- c.13434-16C>T Multiple submitters
- c.13434-6A>G Multiple submitters
- c.13653+60T>C Multiple submitters
- c.13893+9G>A Multiple submitters
- c.14043+8T>C Multiple submitters
- c.14661+58A>G Multiple submitters
- c.14661+7G>A Multiple submitters
- c.14836+19A>G Multiple submitters
- c.14836+9T>C Multiple submitters
- c.1509+11T>C Multiple submitters
- c.1510-18T>A Multiple submitters
- c.16196+13A>G Multiple submitters
- c.16196+40T>C Multiple submitters
- c.16197-148A>T Multiple submitters
- c.16197-6T>C Multiple submitters
- c.16368+19C>T Multiple submitters
- c.16368+40A>G Multiple submitters
- c.16611+10G>A Multiple submitters
- c.16611+16A>G Multiple submitters
- c.16611+26A>G Multiple submitters
- c.16612-65G>C Multiple submitters
- c.17019+10T>G Multiple submitters
- c.17019+12T>G Multiple submitters
- c.17204+13dup Multiple submitters
- c.17204+7A>G Multiple submitters
- c.17454+10C>T Multiple submitters
- c.17454+16A>G Multiple submitters
- c.17594+11A>G Multiple submitters febrile seizures, familial, 4
- c.17594+8T>C Multiple submitters
- c.17756-18A>T Multiple submitters
- c.17856+10C>T Multiple submitters
- c.18152+14G>A Multiple submitters
- c.18310+12A>G Multiple submitters
- c.18432+17G>T Multiple submitters
- c.18432+18G>T Multiple submitters
- c.18433-15T>C Multiple submitters
- c.18433-4G>T Multiple submitters
- c.18625-85A>C Multiple submitters
- c.18802+15A>G Multiple submitters
- c.18802+20C>T Multiple submitters
- c.18802+9G>A Multiple submitters
- c.2016+11T>C Multiple submitters
- c.2017-5A>G Multiple submitters
- c.2017-5A>T Multiple submitters
- c.208-4A>G Multiple submitters febrile seizures, familial, 4
- c.22+62A>G Multiple submitters
- c.22+8A>G Multiple submitters
- c.2241-30G>A Multiple submitters
- c.23-13C>G Multiple submitters
- c.23-9T>A Multiple submitters
- c.2367+14A>T Multiple submitters
- c.2368-13T>C Multiple submitters
- c.2553+13A>G Multiple submitters
- c.2553+20C>A Multiple submitters
- c.2734+18T>G Multiple submitters Usher syndrome type 2C
- c.2735-16T>C Multiple submitters
- c.2735-19G>A Multiple submitters
- c.2898+12A>G Multiple submitters
- c.2899-19C>T Multiple submitters
- c.3023-9A>G Multiple submitters
- c.3290-16dup Multiple submitters
- c.358-12A>T Multiple submitters
- c.3634+27_3634+44del Multiple submitters
- c.3635-16A>C Multiple submitters
- c.3635-17A>C Multiple submitters
- c.4378+20C>T Multiple submitters
- c.4379-12C>T Multiple submitters
- c.453+8C>T Multiple submitters
- c.4929+244A>G Multiple submitters
- c.5110+13T>C Multiple submitters
- c.5444-12C>T Multiple submitters
- c.5444-24G>T Multiple submitters
- c.5524+15C>T Multiple submitters
- c.5524+19G>C Multiple submitters
- c.558+12C>G Multiple submitters
- c.559-19A>G Multiple submitters
- c.6274+20TTA[4] Multiple submitters
- c.6491-18T>C Multiple submitters
- c.6707-6C>T Multiple submitters
- c.672+16A>G Multiple submitters
- c.7133+11T>C Multiple submitters
- c.7133+16A>G Multiple submitters
- c.7945+9T>C Multiple submitters
- c.8156-17A>T Multiple submitters
- c.8156-20T>A Multiple submitters
- c.8287-16T>C Multiple submitters
- c.8387-8A>G Multiple submitters
- c.8566+10dup Multiple submitters
- c.8730+9_8730+10insCT Multiple submitters
- c.8824+50A>C Multiple submitters
- c.8825-19T>C Multiple submitters
- c.8904-19T>G Multiple submitters
- c.9042+13dup Multiple submitters
- c.9042+17A>G Multiple submitters
- c.9447+63C>G Multiple submitters
- c.9447+9A>G Multiple submitters
- c.9749-17T>C Multiple submitters
- c.-67A>T Multiple submitters Usher syndrome type 2C
- p.Ala1946= Multiple submitters
- p.Ala2032= Multiple submitters
- p.Ala2130= Multiple submitters
- p.Ala2184= Multiple submitters
- p.Ala2451= Multiple submitters
- p.Ala2800= Multiple submitters
- p.Ala3108= Multiple submitters
- p.Ala3528= Multiple submitters
- p.Ala3782= Multiple submitters
- p.Ala4270= Multiple submitters
- p.Ala4309= Multiple submitters
- p.Ala431Val Multiple submitters Inborn genetic diseases
- p.Ala4495= Multiple submitters
- p.Ala502= Multiple submitters
- p.Ala5352= Multiple submitters
- p.Ala5615= Multiple submitters
- p.Ala5957= Multiple submitters
- p.Ala6065= Multiple submitters
- p.Ala6251= Multiple submitters
- p.Ala75Thr Multiple submitters Inborn genetic diseases
- p.Arg1320His Multiple submitters Inborn genetic diseases
- p.Arg1553Cys Multiple submitters Inborn genetic diseases
- p.Arg2128= Multiple submitters
- p.Arg4268= Multiple submitters
- p.Arg4330Lys Multiple submitters
- p.Arg4861= Multiple submitters
- p.Arg5100= Multiple submitters
- p.Arg5310His Multiple submitters
- p.Arg5898Gln Multiple submitters Inborn genetic diseases
- p.Arg6009= Multiple submitters
- p.Asn1027= Multiple submitters
- p.Asn1200= Multiple submitters
- p.Asn1390= Multiple submitters
- p.Asn2573= Multiple submitters
- p.Asn2700= Multiple submitters
- p.Asn2735Ser Multiple submitters ⚠
- p.Asn3431= Multiple submitters
- p.Asn3770Ser Multiple submitters Inborn genetic diseases
- p.Asn4225= Multiple submitters
- p.Asn4395= Multiple submitters
- p.Asn4569= Multiple submitters
- p.Asn5060= Multiple submitters
- p.Asn5080= Multiple submitters
- p.Asn5093= Multiple submitters
- p.Asn5174= Multiple submitters
- p.Asn5334= Multiple submitters
- p.Asn6056= Multiple submitters
- p.Asp1718= Multiple submitters
- p.Asp1938= Multiple submitters
- p.Asp1944= Multiple submitters
- p.Asp223= Multiple submitters
- p.Asp2310= Multiple submitters
- p.Asp3040= Multiple submitters
- p.Asp4050Asn Multiple submitters
- p.Asp4212= Multiple submitters
- p.Asp4622= Multiple submitters
- p.Asp4691= Multiple submitters
- p.Asp4729= Multiple submitters
- p.Asp4832= Multiple submitters
- p.Asp5422= Multiple submitters
- p.Asp935= Multiple submitters
- p.Cys3169= Multiple submitters
- p.Gln1282= Multiple submitters
- p.Gln235= Multiple submitters
- p.Glu107= Multiple submitters
- p.Glu1738= Multiple submitters
- p.Glu2248= Multiple submitters
- p.Glu3865= Multiple submitters
- p.Glu5662= Multiple submitters
- p.Glu6207= Multiple submitters
- p.Glu6284= Multiple submitters
- p.Glu73= Multiple submitters
- p.Gly1295= Multiple submitters
- p.Gly1384= Multiple submitters
- p.Gly1823= Multiple submitters
- p.Gly1881= Multiple submitters
- p.Gly2216= Multiple submitters
- p.Gly2629= Multiple submitters
- p.Gly2639= Multiple submitters
- p.Gly2928= Multiple submitters
- p.Gly3198= Multiple submitters
- p.Gly3296= Multiple submitters
- p.Gly3441Glu Multiple submitters Inborn genetic diseases
- p.Gly3922= Multiple submitters
- p.Gly4152= Multiple submitters
- p.Gly4446Arg Multiple submitters Inborn genetic diseases
- p.Gly4762= Multiple submitters
- p.Gly4986= Multiple submitters
- p.Gly5366= Multiple submitters
- p.Gly546= Multiple submitters
- p.Gly681= Multiple submitters
- p.Gly712= Multiple submitters
- p.Gly773Arg Multiple submitters
- p.His1859= Multiple submitters
- p.His4952= Multiple submitters
- p.His5026= Multiple submitters
- p.His5034= Multiple submitters
- p.His863= Multiple submitters
- p.Ile1436= Multiple submitters
- p.Ile2058= Multiple submitters
- p.Ile215Val Multiple submitters Inborn genetic diseases
- p.Ile2341= Multiple submitters
- p.Ile2802= Multiple submitters
- p.Ile2858= Multiple submitters
- p.Ile3064= Multiple submitters
- p.Ile3103Val Multiple submitters Inborn genetic diseases
- p.Ile3212Val Multiple submitters Inborn genetic diseases
- p.Ile3214= Multiple submitters
- p.Ile360= Multiple submitters
- p.Ile3742= Multiple submitters
- p.Ile4218= Multiple submitters
- p.Ile4385= Multiple submitters
- p.Ile4470= Multiple submitters
- p.Ile4517Val Multiple submitters Inborn genetic diseases
- p.Ile4527Val Multiple submitters
- p.Ile4936Val Multiple submitters Inborn genetic diseases
- p.Ile5928= Multiple submitters
- p.Ile6301= Multiple submitters
- p.Leu1061= Multiple submitters
- p.Leu1205= Multiple submitters
- p.Leu1498= Multiple submitters
- p.Leu1952= Multiple submitters
- p.Leu221= Multiple submitters
- p.Leu2608= Multiple submitters
- p.Leu3187= Multiple submitters
- p.Leu3716= Multiple submitters
- p.Leu4520= Multiple submitters
- p.Leu4546= Multiple submitters
- p.Leu4719= Multiple submitters
- p.Leu4745= Multiple submitters
- p.Leu4844= Multiple submitters
- p.Leu488= Multiple submitters
- p.Leu4897= Multiple submitters
- p.Leu5274= Multiple submitters
- p.Leu5285= Multiple submitters
- p.Leu5941= Multiple submitters
- p.Leu5949= Multiple submitters
- p.Leu5956= Multiple submitters
- p.Lys1450Arg Multiple submitters
- p.Lys3401= Multiple submitters
- p.Lys4674= Multiple submitters
- p.Lys5766= Multiple submitters
- p.Lys807= Multiple submitters
- p.Phe1242= Multiple submitters
- p.Phe1330= Multiple submitters
- p.Phe1627= Multiple submitters
- p.Phe2519= Multiple submitters
- p.Phe3259= Multiple submitters
- p.Phe5483= Multiple submitters
- p.Pro1342= Multiple submitters
- p.Pro1655= Multiple submitters
- p.Pro2029Leu Multiple submitters Usher syndrome type 2C
- p.Pro226= Multiple submitters
- p.Pro2313= Multiple submitters
- p.Pro2414= Multiple submitters
- p.Pro2558= Multiple submitters
- p.Pro3969= Multiple submitters Inborn genetic diseases
- p.Pro4165= Multiple submitters
- p.Pro4530= Multiple submitters
- p.Pro4811= Multiple submitters
- p.Pro5138= Multiple submitters
- p.Pro5322= Multiple submitters
- p.Pro5454= Multiple submitters
- p.Pro6184= Multiple submitters
- p.Pro964= Multiple submitters
- p.Pro968= Multiple submitters
- p.Ser1555= Multiple submitters
- p.Ser1726= Multiple submitters
Uncertain significance 2203
Showing the top 300 by review status; the full set is in the sitemap.
- c.11121+5G>A Multiple submitters
- c.11581-2dup Multiple submitters
- c.12849+5_12849+6insAA Multiple submitters
- c.13231+4G>C Multiple submitters
- c.13434-12_13434-10del Multiple submitters
- c.13653+6T>C Multiple submitters
- c.14662-3C>T Multiple submitters
- c.16196+3A>G Multiple submitters
- c.17204+4A>G Multiple submitters Usher syndrome type 2C
- c.17856+5_17856+7del Multiple submitters
- c.3289+4A>C Multiple submitters
- c.357+5G>A Multiple submitters
- c.4929+6C>A Multiple submitters Usher syndrome type 2C
- c.5313+4A>G Multiple submitters Usher syndrome type 2C
- c.7945+5G>A Multiple submitters
- c.8155+4G>T Multiple submitters
- c.9042+5G>A Multiple submitters
- c.9185-3C>A Multiple submitters
- c.-26_-9del Multiple submitters
- p.Ala1039Val Multiple submitters ⚠
- p.Ala1045Pro Multiple submitters Usher syndrome type 2C
- p.Ala1113Asp Multiple submitters Usher syndrome type 2C
- p.Ala1571Val Multiple submitters ⚠
- p.Ala1630Val Multiple submitters Inborn genetic diseases ⚠
- p.Ala2295Val Multiple submitters ⚠
- p.Ala2811Gly Multiple submitters ADGRV1-related disorder ⚠
- p.Ala2948Pro Multiple submitters
- p.Ala3003Thr Multiple submitters
- p.Ala3019Val Multiple submitters Inborn genetic diseases ⚠
- p.Ala3068Ser Multiple submitters
- p.Ala3314Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ala3606Pro Multiple submitters
- p.Ala3945Thr Multiple submitters Inborn genetic diseases
- p.Ala4147Thr Multiple submitters ⚠
- p.Ala4508Gly Multiple submitters ⚠
- p.Ala4645Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ala496Thr Multiple submitters
- p.Ala5046Ser Multiple submitters ⚠
- p.Ala5131Ser Multiple submitters ⚠
- p.Ala5187Val Multiple submitters Usher syndrome type 2C ⚠
- p.Ala5208Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ala5212Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ala5542Asp Multiple submitters hearing loss disorder ⚠
- p.Ala5961Thr Multiple submitters ⚠
- p.Ala5974Gly Multiple submitters ⚠
- p.Ala89Thr Multiple submitters ⚠
- p.Ala908Gly Multiple submitters ⚠
- p.Arg1273Lys Multiple submitters
- p.Arg1758Ser Multiple submitters Inborn genetic diseases
- p.Arg1841Cys Multiple submitters Usher syndrome type 2C ⚠
- p.Arg1841His Multiple submitters Usher syndrome type 2C ⚠
- p.Arg2097Leu Multiple submitters
- p.Arg2260Gln Multiple submitters
- p.Arg2260Gly Multiple submitters
- p.Arg2360Tyr Multiple submitters
- p.Arg2384Gly Multiple submitters ⚠
- p.Arg285Pro Multiple submitters Inborn genetic diseases ⚠
- p.Arg3023Met Multiple submitters
- p.Arg3105Gln Multiple submitters Usher syndrome type 2C ⚠
- p.Arg3105Trp Multiple submitters Inborn genetic diseases
- p.Arg3494Lys Multiple submitters Inborn genetic diseases ⚠
- p.Arg3536Ser Multiple submitters Inborn genetic diseases ⚠
- p.Arg3601Gly Multiple submitters Inborn genetic diseases ⚠
- p.Arg3680Cys Multiple submitters Inborn genetic diseases
- p.Arg3804Gln Multiple submitters
- p.Arg3943Gln Multiple submitters
- p.Arg4062Gln Multiple submitters Usher syndrome type 2C
- p.Arg4062Trp Multiple submitters Usher syndrome type 2C
- p.Arg4179Gln Multiple submitters Inborn genetic diseases
- p.Arg4211Leu Multiple submitters ⚠
- p.Arg4290Cys Multiple submitters
- p.Arg4290His Multiple submitters Inborn genetic diseases
- p.Arg493Gly Multiple submitters Inborn genetic diseases ⚠
- p.Arg4991Gln Multiple submitters ⚠
- p.Arg5505Gln Multiple submitters
- p.Arg5932Gly Multiple submitters Inborn genetic diseases ⚠
- p.Arg679Gln Multiple submitters
- p.Arg747Gly Multiple submitters ⚠
- p.Arg747Ser Multiple submitters
- p.Asn1200Asp Multiple submitters ⚠
- p.Asn1235Ser Multiple submitters
- p.Asn1368Lys Multiple submitters ⚠
- p.Asn142Ser Multiple submitters
- p.Asn2030Asp Multiple submitters Inborn genetic diseases ⚠
- p.Asn2207Ile Multiple submitters Inborn genetic diseases
- p.Asn2291Asp Multiple submitters Inborn genetic diseases ⚠
- p.Asn2573Ser Multiple submitters Inborn genetic diseases
- p.Asn2694Ser Multiple submitters ⚠
- p.Asn2698Asp Multiple submitters
- p.Asn2746Thr Multiple submitters ⚠
- p.Asn3463Tyr Multiple submitters Inborn genetic diseases ⚠
- p.Asn5645Ser Multiple submitters ⚠
- p.Asn5817Ile Multiple submitters Inborn genetic diseases
- p.Asn6172Ser Multiple submitters Usher syndrome type 2C ⚠
- p.Asn657Ser Multiple submitters ⚠
- p.Asp1001Asn Multiple submitters
- p.Asp103Glu Multiple submitters Inborn genetic diseases
- p.Asp1079Val Multiple submitters ⚠
- p.Asp1098Asn Multiple submitters ⚠
- p.Asp1116Tyr Multiple submitters Usher syndrome type 2C
- p.Asp1482Asn Multiple submitters Inborn genetic diseases
- p.Asp1618Glu Multiple submitters Inborn genetic diseases ⚠
- p.Asp1880Asn Multiple submitters Inborn genetic diseases ⚠
- p.Asp1940His Multiple submitters ⚠
- p.Asp1973His Multiple submitters Inborn genetic diseases ⚠
- p.Asp2039Asn Multiple submitters
- p.Asp2393Asn Multiple submitters ⚠
- p.Asp2395Asn Multiple submitters Inborn genetic diseases ⚠
- p.Asp2530His Multiple submitters Inborn genetic diseases ⚠
- p.Asp2535Asn Multiple submitters Inborn genetic diseases
- p.Asp3586Asn Multiple submitters Inborn genetic diseases
- p.Asp365Tyr Multiple submitters febrile seizures, familial, 1
- p.Asp3726Glu Multiple submitters
- p.Asp387Gly Multiple submitters Inborn genetic diseases ⚠
- p.Asp4115Asn Multiple submitters ⚠
- p.Asp4394Tyr Multiple submitters ⚠
- p.Asp4435Glu Multiple submitters Usher syndrome type 2C ⚠
- p.Asp4825Gly Multiple submitters Inborn genetic diseases ⚠
- p.Asp4832Asn Multiple submitters Usher syndrome type 2C ⚠
- p.Asp5134Gly Multiple submitters Usher syndrome type 2C ⚠
- p.Asp5422Tyr Multiple submitters ⚠
- p.Asp5609Val Multiple submitters Usher syndrome type 2C
- p.Asp6259Tyr Multiple submitters
- p.Asp6303Asn Multiple submitters
- p.Asp74Asn Multiple submitters Inborn genetic diseases ⚠
- p.Cys3312Arg Multiple submitters Usher syndrome type 2C
- p.Cys5792Ser Multiple submitters
- p.Cys5921Arg Multiple submitters ⚠
- p.Cys5921Ser Multiple submitters ⚠
- p.Cys5970Ser Multiple submitters ⚠
- p.Cys6160Phe Multiple submitters Inborn genetic diseases
- p.Gln1069His Multiple submitters Inborn genetic diseases ⚠
- p.Gln1614Glu Multiple submitters ⚠
- p.Gln235His Multiple submitters Inborn genetic diseases ⚠
- p.Gln2874Glu Multiple submitters Inborn genetic diseases ⚠
- p.Gln2949Glu Multiple submitters Inborn genetic diseases
- p.Gln368Arg Multiple submitters Inborn genetic diseases ⚠
- p.Gln3980His Multiple submitters
- p.Gln4955Arg Multiple submitters inherited retinal dystrophy ⚠
- p.Gln526Arg Multiple submitters
- p.Glu1056Asp Multiple submitters Inborn genetic diseases ⚠
- p.Glu1515Asp Multiple submitters ⚠
- p.Glu1643Gly Multiple submitters
- p.Glu1659Asp Multiple submitters
- p.Glu1756Lys Multiple submitters Inborn genetic diseases ⚠
- p.Glu188Asp Multiple submitters ⚠
- p.Glu2226Lys Multiple submitters Inborn genetic diseases ⚠
- p.Glu2246Gly Multiple submitters
- p.Glu224Lys Multiple submitters ⚠
- p.Glu2544Gly Multiple submitters ⚠
- p.Glu2718Asp Multiple submitters Inborn genetic diseases ⚠
- p.Glu2748Gln Multiple submitters Inborn genetic diseases ⚠
- p.Glu3106Ala Multiple submitters ⚠
- p.Glu3471Arg Multiple submitters
- p.Glu353Asp Multiple submitters Inborn genetic diseases
- p.Glu3679Lys Multiple submitters
- p.Glu4095Lys Multiple submitters Inborn genetic diseases ⚠
- p.Glu4200Lys Multiple submitters Inborn genetic diseases ⚠
- p.Glu4401Lys Multiple submitters
- p.Glu4727Lys Multiple submitters ⚠
- p.Glu481Lys Multiple submitters
- p.Glu5232Lys Multiple submitters Inborn genetic diseases ⚠
- p.Glu5968Asp Multiple submitters ⚠
- p.Glu5968Val Multiple submitters Inborn genetic diseases ⚠
- p.Glu6007Asp Multiple submitters ⚠
- p.Glu6284Lys Multiple submitters ⚠
- p.Glu6295Ala Multiple submitters
- p.Glu792Ala Multiple submitters ⚠
- p.Glu835Lys Multiple submitters Usher syndrome type 2C
- p.Glu854Lys Multiple submitters Inborn genetic diseases
- p.Gly1043Arg Multiple submitters Inborn genetic diseases
- p.Gly1276Ser Multiple submitters
- p.Gly1467Arg Multiple submitters
- p.Gly1519Glu Multiple submitters Usher syndrome type 2C
- p.Gly1825Ser Multiple submitters ⚠
- p.Gly2233Val Multiple submitters ⚠
- p.Gly2328Val Multiple submitters Inborn genetic diseases ⚠
- p.Gly2615Ser Multiple submitters Inborn genetic diseases
- p.Gly2641Glu Multiple submitters
- p.Gly2756Arg Multiple submitters Usher syndrome
- p.Gly2824Ala Multiple submitters febrile seizures, familial, 4
- p.Gly2891Cys Multiple submitters
- p.Gly2957Glu Multiple submitters
- p.Gly295Val Multiple submitters Inborn genetic diseases
- p.Gly3110Glu Multiple submitters
- p.Gly3489Glu Multiple submitters Usher syndrome type 2C ⚠
- p.Gly3753Asp Multiple submitters ⚠
- p.Gly3753Val Multiple submitters Inborn genetic diseases ⚠
- p.Gly3810Val Multiple submitters beta-mannosidosis
- p.Gly3922Glu Multiple submitters Inborn genetic diseases ⚠
- p.Gly4011Val Multiple submitters Inborn genetic diseases
- p.Gly4578Arg Multiple submitters
- p.Gly461Trp Multiple submitters ⚠
- p.Gly4640Glu Multiple submitters febrile seizures, familial, 4 ⚠
- p.Gly4913Arg Multiple submitters Inborn genetic diseases ⚠
- p.Gly4925Val Multiple submitters Inborn genetic diseases
- p.Gly5132Arg Multiple submitters Inborn genetic diseases ⚠
- p.Gly5223Arg Multiple submitters ⚠
- p.Gly5337Glu Multiple submitters ⚠
- p.Gly5604Asp Multiple submitters
- p.Gly5604Ser Multiple submitters Inborn genetic diseases ⚠
- p.Gly5950Asp Multiple submitters
- p.Gly6049Val Multiple submitters Inborn genetic diseases
- p.Gly6123Arg Multiple submitters
- p.Gly6176Glu Multiple submitters ⚠
- p.Gly6185Arg Multiple submitters Inborn genetic diseases ⚠
- p.Gly6204Ser Multiple submitters Usher syndrome type 2C ⚠
- p.Gly6268Asp Multiple submitters febrile seizures, familial, 4
- p.Gly6279Val Multiple submitters Inborn genetic diseases ⚠
- p.Gly6281Ser Multiple submitters Inborn genetic diseases ⚠
- p.Gly6286Ala Multiple submitters ⚠
- p.Gly6286Asp Multiple submitters ⚠
- p.Gly708Asp Multiple submitters ⚠
- p.Gly896Ser Multiple submitters Inborn genetic diseases ⚠
- p.Gly896Val Multiple submitters Inborn genetic diseases ⚠
- p.Gly90Arg Multiple submitters Inborn genetic diseases ⚠
- p.Gly945Trp Multiple submitters Usher syndrome type 2C
- p.His1607Arg Multiple submitters Inborn genetic diseases ⚠
- p.His1701Arg Multiple submitters
- p.His1893Tyr Multiple submitters ⚠
- p.His277Arg Multiple submitters ADGRV1-related disorder ⚠
- p.His315Leu Multiple submitters Inborn genetic diseases ⚠
- p.His4105Arg Multiple submitters ⚠
- p.His5889Gln Multiple submitters Usher syndrome type 2C ⚠
- p.His609Asn Multiple submitters Inborn genetic diseases ⚠
- p.His6125Tyr Multiple submitters
- p.His811Pro Multiple submitters Inborn genetic diseases
- p.Ile1062Thr Multiple submitters Usher syndrome type 2C ⚠
- p.Ile113Val Multiple submitters Inborn genetic diseases ⚠
- p.Ile1381Val Multiple submitters Inborn genetic diseases ⚠
- p.Ile1542Val Multiple submitters ⚠
- p.Ile1696Val Multiple submitters Inborn genetic diseases ⚠
- p.Ile1797Val Multiple submitters ⚠
- p.Ile1931Asn Multiple submitters Inborn genetic diseases
- p.Ile2187Met Multiple submitters
- p.Ile2570Met Multiple submitters
- p.Ile2610Thr Multiple submitters ⚠
- p.Ile2704Thr Multiple submitters ⚠
- p.Ile2742Met Multiple submitters ⚠
- p.Ile3156Met Multiple submitters Inborn genetic diseases ⚠
- p.Ile3423Val Multiple submitters Usher syndrome type 2C ⚠
- p.Ile3516Met Multiple submitters Inborn genetic diseases ⚠
- p.Ile3516Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ile351Val Multiple submitters Inborn genetic diseases ⚠
- p.Ile3522Val Multiple submitters Inborn genetic diseases ⚠
- p.Ile3756Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ile3765Val Multiple submitters ⚠
- p.Ile3812Val Multiple submitters ⚠
- p.Ile3874Val Multiple submitters Inborn genetic diseases ⚠
- p.Ile4003Thr Multiple submitters Inborn genetic diseases
- p.Ile4160Asn Multiple submitters Usher syndrome type 2C
- p.Ile4174Thr Multiple submitters ⚠
- p.Ile4353Val Multiple submitters ⚠
- p.Ile4400Thr Multiple submitters Inborn genetic diseases
- p.Ile4550Ser Multiple submitters Inborn genetic diseases ⚠
- p.Ile4572Val Multiple submitters Inborn genetic diseases ⚠
- p.Ile4602Thr Multiple submitters ⚠
- p.Ile4632Met Multiple submitters
- p.Ile4749Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ile4773Val Multiple submitters ⚠
- p.Ile4868Val Multiple submitters febrile seizures, familial, 4 ⚠
- p.Ile5358Val Multiple submitters Inborn genetic diseases
- p.Ile5477Thr Multiple submitters ⚠
- p.Ile5617Val Multiple submitters ⚠
- p.Ile5699Val Multiple submitters febrile seizures, familial, 4 ⚠
- p.Ile5785Met Multiple submitters Inborn genetic diseases ⚠
- p.Ile598Thr Multiple submitters Inborn genetic diseases
- p.Ile6203= Multiple submitters
- p.Ile652Thr Multiple submitters
- p.Ile652Val Multiple submitters hearing loss disorder ⚠
- p.Ile766Val Multiple submitters ⚠
- p.Ile87Val Multiple submitters febrile seizures, familial, 4 ⚠
- p.Ile958Val Multiple submitters Inborn genetic diseases ⚠
- p.Leu1490Met Multiple submitters
- p.Leu169Pro Multiple submitters
- p.Leu169Val Multiple submitters Inborn genetic diseases ⚠
- p.Leu2197Met Multiple submitters Inborn genetic diseases ⚠
- p.Leu2422Phe Multiple submitters Usher syndrome type 2C ⚠
- p.Leu2696Ser Multiple submitters Inborn genetic diseases
- p.Leu2916Val Multiple submitters ⚠
- p.Leu3197Ser Multiple submitters Inborn genetic diseases ⚠
- p.Leu3475Arg Multiple submitters Inborn genetic diseases ⚠
- p.Leu3520Phe Multiple submitters retinitis pigmentosa ⚠
- p.Leu3809His Multiple submitters Inborn genetic diseases ⚠
- p.Leu4184Phe Multiple submitters ⚠
- p.Leu4323Pro Multiple submitters
- p.Leu456Pro Multiple submitters Usher syndrome type 2C ⚠
- p.Leu5170Met Multiple submitters Inborn genetic diseases ⚠
- p.Leu5285Val Multiple submitters ⚠
- p.Leu5644Pro Multiple submitters
- p.Leu5698Val Multiple submitters ⚠
- p.Leu6027Phe Multiple submitters ⚠
- p.Leu6028Phe Multiple submitters Usher syndrome type 2C
- p.Leu6061Ser Multiple submitters
- p.Leu745Val Multiple submitters Inborn genetic diseases ⚠
- p.Lys2445Arg Multiple submitters Usher syndrome type 2C ⚠
- p.Lys257Asn Multiple submitters ⚠
- p.Lys5039Glu Multiple submitters ⚠
- p.Lys5673Gln Multiple submitters Inborn genetic diseases ⚠
- p.Met1263Lys Multiple submitters Inborn genetic diseases