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Links from MedGen

Items: 1 to 100 of 104

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CLRN1
(T224A +1 more)
Single nucleotide variant
(missense variant +3 more)
Retinal dystrophy
+1 more
GUncertain significance
CLRN1
(C20R)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CLRN1
(G14R)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CLRN1
(P134S +1 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
CLRN1
Single nucleotide variant
(splice acceptor variant)
Usher syndrome type 3
GPathogenic
CLRN1
Single nucleotide variant
(3 prime UTR variant +2 more)
Usher syndrome type 3
GUncertain significance
CLRN1, CLRN1-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
Usher syndrome type 3
GUncertain significance
CLRN1, CLRN1-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
Usher syndrome type 3
GUncertain significance
CLRN1, CLRN1-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
Usher syndrome type 3
GUncertain significance
CLRN1, CLRN1-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
Usher syndrome type 3
GUncertain significance
CLRN1
Single nucleotide variant
(3 prime UTR variant +2 more)
Usher syndrome type 3
GUncertain significance
CLRN1
Single nucleotide variant
(3 prime UTR variant +2 more)
Usher syndrome type 3
GUncertain significance
CLRN1
Single nucleotide variant
(3 prime UTR variant +2 more)
Usher syndrome type 3
GUncertain significance
CLRN1
Single nucleotide variant
(3 prime UTR variant +2 more)
Usher syndrome type 3
GUncertain significance
CLRN1
Single nucleotide variant
(3 prime UTR variant +2 more)
Usher syndrome type 3
+1 more
GLikely benign
CLRN1
(Q62R)
Single nucleotide variant
(missense variant +1 more)
Usher syndrome type 3
GUncertain significance
CLRN1
Single nucleotide variant
(3 prime UTR variant +2 more)
not provided
+1 more
GConflicting classifications of pathogenicity
CLRN1
Single nucleotide variant
(intron variant)
Usher syndrome type 3
GUncertain significance
CLRN1
Single nucleotide variant
(3 prime UTR variant +2 more)
Usher syndrome type 3
GUncertain significance
CLRN1
Single nucleotide variant
(3 prime UTR variant +1 more)
Usher syndrome type 3
GUncertain significance
CLRN1
Single nucleotide variant
(3 prime UTR variant +1 more)
Usher syndrome type 3
+1 more
GLikely benign
CLRN1
Single nucleotide variant
(3 prime UTR variant +1 more)
Usher syndrome type 3
GUncertain significance
CLRN1
(I181F +2 more)
Single nucleotide variant
(missense variant +2 more)
not provided
+1 more
GUncertain significance
CLRN1
Single nucleotide variant
(3 prime UTR variant +2 more)
Usher syndrome type 3
GUncertain significance
CLRN1
Single nucleotide variant
(3 prime UTR variant +2 more)
Usher syndrome type 3
GUncertain significance
CLRN1
Single nucleotide variant
(3 prime UTR variant +2 more)
Usher syndrome type 3
GUncertain significance
CLRN1
(S159F +2 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
CLRN1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
CLRN1
(A117fs +2 more)
Deletion
(frameshift variant +1 more)
Usher syndrome type 3
GPathogenic
CLRN1
(S146Y +2 more)
Single nucleotide variant
(3 prime UTR variant +2 more)
Usher syndrome type 3
GLikely pathogenic
CLRN1
(L22H)
Single nucleotide variant
(missense variant +1 more)
Usher syndrome type 3
GPathogenic
CLRN1
(G43V)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GPathogenic/Likely pathogenic
CLRN1
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
CLRN1, CLRN1-AS1
(K7I)
Single nucleotide variant
(non-coding transcript variant +1 more)
Usher syndrome type 3
+2 more
GConflicting classifications of pathogenicity
CLRN1
Single nucleotide variant
(splice donor variant)
Retinitis pigmentosa 61
+2 more
GPathogenic
CLRN1
(L108P +1 more)
Single nucleotide variant
(synonymous variant +2 more)
Usher syndrome type 3
GPathogenic
CLRN1
(V15M)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CLRN1
(G70D)
Single nucleotide variant
(missense variant +1 more)
Usher syndrome type 3
GUncertain significance
CLRN1
(G14*)
Single nucleotide variant
(nonsense +1 more)
Usher syndrome type 3
GLikely pathogenic
CLRN1
(F48fs +2 more)
Deletion
(frameshift variant +1 more)
Usher syndrome type 3
GLikely pathogenic
CLRN1
(Q62*)
Single nucleotide variant
(nonsense +1 more)
Usher syndrome type 3
GLikely pathogenic
CLRN1
Single nucleotide variant
(intron variant +1 more)
Usher syndrome type 3
GUncertain significance
CLRN1
(P155S)
Single nucleotide variant
(missense variant +2 more)
not provided
+1 more
GConflicting classifications of pathogenicity
CLRN1
(G136E +1 more)
Single nucleotide variant
(missense variant +2 more)
Retinal dystrophy
+2 more
GUncertain significance
CLRN1
(M76del +2 more)
Deletion
(3 prime UTR variant +2 more)
Usher syndrome type 3
GUncertain significance
CLRN1
(G51fs)
Deletion
(frameshift variant +1 more)
Usher syndrome type 3
GLikely pathogenic
CLRN1
(M1R +1 more)
Single nucleotide variant
(missense variant +2 more)
Usher syndrome type 3
GLikely benign
CLRN1
(M1I +1 more)
Single nucleotide variant
(missense variant +2 more)
Usher syndrome type 3
GUncertain significance
CLRN1, CLRN1-AS1
(M1T)
Single nucleotide variant
(non-coding transcript variant +2 more)
Usher syndrome type 3
+1 more
GLikely pathogenic
CLRN1
(H100fs)
Duplication
(intron variant +2 more)
Usher syndrome type 3
GUncertain significance
CLRN1
(G124fs)
Deletion
(frameshift variant +2 more)
Usher syndrome type 3
GUncertain significance
CLRN1
Single nucleotide variant
(splice donor variant +1 more)
Usher syndrome type 3
GLikely benign
CLRN1
(C125fs)
Deletion
(frameshift variant +2 more)
Usher syndrome type 3
GLikely benign
CLRN1, CLRN1-AS1
(M1I)
Single nucleotide variant
(non-coding transcript variant +2 more)
Usher syndrome type 3
GLikely pathogenic
CLRN1
(H170D)
Single nucleotide variant
(missense variant +2 more)
Usher syndrome type 3
+1 more
GLikely benign
CLRN1
(Q157fs)
Microsatellite
(intron variant +2 more)
Usher syndrome type 3
GUncertain significance
CLRN1
(R118*)
Single nucleotide variant
(intron variant +2 more)
Usher syndrome type 3
GLikely benign
CLRN1
(Q194* +2 more)
Single nucleotide variant
(nonsense +2 more)
Usher syndrome type 3
+1 more
GPathogenic/Likely pathogenic
CLRN1
(V129fs)
Deletion
(frameshift variant +2 more)
Usher syndrome type 3
GUncertain significance
CLRN1
(Q73R)
Single nucleotide variant
(missense variant +1 more)
Retinitis pigmentosa
+5 more
GUncertain significance
CLRN1
(M61I)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GUncertain significance
HARS1
(R375C +6 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
CLRN1
(R207* +1 more)
Single nucleotide variant
(nonsense +3 more)
Retinitis pigmentosa
+4 more
GPathogenic
CLRN1, CLRN1-AS1
(Q5*)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
+1 more
GPathogenic/Likely pathogenic
CLRN1
Duplication
(splice donor variant)
Usher syndrome type 3
GLikely pathogenic
CLRN1, CLRN1-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
CLRN1, CLRN1-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
Usher syndrome type 3
GUncertain significance
CLRN1, CLRN1-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
Usher syndrome type 3
GUncertain significance
CLRN1, CLRN1-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
+1 more
GBenign
CLRN1
(E158G +2 more)
Single nucleotide variant
(missense variant +2 more)
not provided
+1 more
GUncertain significance
CLRN1
Single nucleotide variant
(3 prime UTR variant +2 more)
Usher syndrome type 3
GUncertain significance
CLRN1
Single nucleotide variant
(3 prime UTR variant +2 more)
Usher syndrome type 3
GUncertain significance
CLRN1
Single nucleotide variant
(3 prime UTR variant +2 more)
Usher syndrome type 3
GUncertain significance
CLRN1
Single nucleotide variant
(3 prime UTR variant +2 more)
not provided
+1 more
GLikely benign
CLRN1
Single nucleotide variant
(3 prime UTR variant +2 more)
Usher syndrome type 3
GUncertain significance
CLRN1
Single nucleotide variant
(3 prime UTR variant +2 more)
not provided
+1 more
GBenign
CLRN1
Single nucleotide variant
(3 prime UTR variant +2 more)
Usher syndrome type 3
GBenign
CLRN1
Single nucleotide variant
(3 prime UTR variant +2 more)
Usher syndrome type 3
GUncertain significance
CLRN1
Single nucleotide variant
(3 prime UTR variant +2 more)
Usher syndrome type 3
GUncertain significance
CLRN1
Single nucleotide variant
(3 prime UTR variant +2 more)
not provided
+1 more
GBenign
CLRN1
Single nucleotide variant
(intron variant +2 more)
not provided
+1 more
GBenign
CLRN1
Single nucleotide variant
(3 prime UTR variant +2 more)
Usher syndrome type 3A
+2 more
GConflicting classifications of pathogenicity
CLRN1
Single nucleotide variant
(3 prime UTR variant +2 more)
not provided
+1 more
GConflicting classifications of pathogenicity
CLRN1
Single nucleotide variant
(3 prime UTR variant +1 more)
Usher syndrome type 3
GUncertain significance
CLRN1
Single nucleotide variant
(3 prime UTR variant +1 more)
Usher syndrome type 3
GLikely benign
CLRN1
Single nucleotide variant
(3 prime UTR variant +1 more)
Usher syndrome type 3
GUncertain significance
CLRN1
Single nucleotide variant
(intron variant +1 more)
Retinitis pigmentosa
+4 more
GUncertain significance
CLRN1
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
CLRN1
(I92fs +2 more)
Duplication
(frameshift variant +2 more)
Usher syndrome
+7 more
GPathogenic/Likely pathogenic
CLRN1
(S50fs)
Indel
Retinitis pigmentosa
+6 more
GPathogenic/Likely pathogenic
CLRN1
Single nucleotide variant
(synonymous variant +3 more)
Usher syndrome type 3
+2 more
GConflicting classifications of pathogenicity
CLRN1, CLRN1-AS1
Single nucleotide variant
(synonymous variant +1 more)
not specified
+2 more
GBenign
CLRN1
Single nucleotide variant
(synonymous variant +1 more)
Usher syndrome type 3A
+4 more
GBenign
CLRN1
(A123D +2 more)
Single nucleotide variant
(missense variant +2 more)
Usher syndrome type 3A
+5 more
GPathogenic/Likely pathogenic
CLRN1
(C158fs +2 more)
Deletion
(frameshift variant +1 more)
Rare genetic deafness
+2 more
GPathogenic/Likely pathogenic
CLRN1
(N48D)
Single nucleotide variant
(missense variant +1 more)
not specified
+2 more
GConflicting classifications of pathogenicity
CLRN1
(C40G)
Single nucleotide variant
(missense variant +1 more)
Usher syndrome
+4 more
GConflicting classifications of pathogenicity
CLRN1
(Y63fs)
Deletion
(frameshift variant +1 more)
Usher syndrome type 3
GPathogenic
CLRN1
(Y63*)
Single nucleotide variant
(nonsense +1 more)
CLRN1-related condition
+5 more
GPathogenic
CLRN1
(L150P +2 more)
Single nucleotide variant
(missense variant +2 more)
Retinitis pigmentosa 61
GLikely pathogenic
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