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Items: 15

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CRB1
(C948Y +2 more)
Single nucleotide variant
(missense variant +2 more)
CRB1-related disorder
+9 more
GPathogenic
USH2A
(R4674G)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
USH2A
(C3307W)
Single nucleotide variant
(missense variant)
Usher syndrome
GUncertain significance
USH2A-AS1, USH2A
(G1301V)
Single nucleotide variant
Usher syndrome
GBenign
USH2A
(E767fs)
Deletion
(frameshift variant)
Rare genetic deafness
+23 more
GConflicting classifications of pathogenicity
USH2A
(C759F)
Single nucleotide variant
(missense variant)
Usher syndrome
GPathogenic
CYP4V2
(R320*)
Single nucleotide variant
(nonsense)
Retinitis pigmentosa
+1 more
GPathogenic
CNGB3
Deletion
(frameshift variant)
Achromatopsia
+5 more
GPathogenic/Likely pathogenic
USH1C
(R80fs)
Duplication
(frameshift variant +1 more)
Rare genetic deafness
+6 more
GPathogenic
CEP290
Single nucleotide variant
(intron variant)
Joubert syndrome 5
+13 more
GPathogenic/Likely pathogenic
GPHN, RDH12
+1 more
(A269fs)
Deletion
(frameshift variant)
RDH12-Related Disorders
+3 more
GPathogenic
CLN3
Deletion
(splice acceptor variant +1 more)
not provided
+1 more
GPathogenic
AIPL1
(P376S +6 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+4 more
GBenign/Likely benign
AIPL1
(W278* +6 more)
Single nucleotide variant
(nonsense +1 more)
Retinal dystrophy
+5 more
GPathogenic
PANK2
(G230R +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+4 more
GPathogenic
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