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Items: 22

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
USH2A
(R4192H)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa
+7 more
GConflicting classifications of pathogenicity
USH2A
(W3955*)
Single nucleotide variant
(nonsense)
Retinal dystrophy
+10 more
GPathogenic
USH2A
(C3358Y)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 39
+5 more
GPathogenic/Likely pathogenic
USH2A
(G3142*)
Single nucleotide variant
(nonsense)
Retinal dystrophy
+7 more
GPathogenic/Likely pathogenic
USH2A
Single nucleotide variant
(intron variant)
Usher syndrome type 2A
+6 more
GPathogenic/Likely pathogenic
USH2A
(G2313C)
Single nucleotide variant
(missense variant)
Usher syndrome type 2A
+5 more
GConflicting classifications of pathogenicity
USH2A
(P2078R)
Single nucleotide variant
(missense variant)
Usher syndrome
GUncertain significance
USH2A
(E2054fs)
Deletion
(frameshift variant)
Retinal dystrophy
+4 more
GPathogenic/Likely pathogenic
USH2A, USH2A-AS2
Single nucleotide variant
(splice donor variant)
not provided
+6 more
GPathogenic
LOC122152296, USH2A
(C934W)
Single nucleotide variant
(missense variant)
Usher syndrome type 2A
+4 more
GConflicting classifications of pathogenicity
USH2A
(C766R)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa
+5 more
GPathogenic/Likely pathogenic
USH2A
Single nucleotide variant
(intron variant)
Retinitis pigmentosa 39
+4 more
GPathogenic/Likely pathogenic
USH2A
(G268R)
Single nucleotide variant
(missense variant)
Retinal dystrophy
+4 more
GPathogenic/Likely pathogenic
USH2A
(Q81fs)
Duplication
(frameshift variant)
Retinitis pigmentosa 39
+3 more
GPathogenic
ADGRV1
Single nucleotide variant
(splice acceptor variant)
Retinal dystrophy
+4 more
GPathogenic/Likely pathogenic
USH1C
(R80fs)
Duplication
(frameshift variant +1 more)
Usher syndrome
+6 more
GPathogenic
BBS1, ZDHHC24
(M390R)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+5 more
GPathogenic/Likely pathogenic
MYO7A
(G214R +1 more)
Single nucleotide variant
(missense variant)
Rare genetic deafness
+5 more
GPathogenic
MYO7A
(A826T +1 more)
Single nucleotide variant
(missense variant)
Usher syndrome
GUncertain significance
MYO7A
(G1298R +1 more)
Single nucleotide variant
(missense variant)
Usher syndrome
+3 more
GPathogenic/Likely pathogenic
ARSG
(D45Y)
Single nucleotide variant
(missense variant)
Usher syndrome, type 4
+1 more
GPathogenic
CEP250
(R1155* +1 more)
Single nucleotide variant
(nonsense)
Cone-rod dystrophy and hearing loss 2
GLikely pathogenic
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