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Links from MedGen

Items: 36

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CLRN1
(E166* +2 more)
Single nucleotide variant
(nonsense +2 more)
Retinitis pigmentosa 61
GLikely pathogenic
CLRN1
(T37fs)
Duplication
(frameshift variant +1 more)
Retinitis pigmentosa 61
GLikely pathogenic
CLRN1
Single nucleotide variant
(splice donor variant)
Retinitis pigmentosa 61
GLikely pathogenic
CLRN1
(V198fs +1 more)
Duplication
(frameshift variant +3 more)
Retinitis pigmentosa 61
GLikely pathogenic
CLRN1
(Y109* +2 more)
Single nucleotide variant
(nonsense +2 more)
not provided
+1 more
GPathogenic/Likely pathogenic
CLRN1
(V71fs)
Duplication
(frameshift variant +1 more)
Retinitis pigmentosa 61
GLikely pathogenic
CLRN1
(K15* +2 more)
Single nucleotide variant
(nonsense +2 more)
Retinitis pigmentosa 61
GLikely pathogenic
CLRN1
(G68fs)
Duplication
(frameshift variant +1 more)
Retinitis pigmentosa 61
GLikely pathogenic
CLRN1
(G51fs)
Deletion
(frameshift variant +1 more)
Retinitis pigmentosa 61
GLikely pathogenic
CLRN1
(A44fs)
Deletion
(frameshift variant +1 more)
Retinitis pigmentosa 61
GLikely pathogenic
CLRN1
(L32*)
Single nucleotide variant
(nonsense +1 more)
not provided
+1 more
GPathogenic/Likely pathogenic
CLRN1
(S50*)
Single nucleotide variant
(nonsense +1 more)
Retinitis pigmentosa 61
+1 more
GPathogenic
CLRN1
(F210fs +1 more)
Deletion
(frameshift variant +3 more)
not provided
+1 more
GPathogenic
CLRN1
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
CLRN1
(Y171* +2 more)
Single nucleotide variant
(nonsense +2 more)
Retinitis pigmentosa 61
+1 more
GPathogenic/Likely pathogenic
CLRN1
(G64R)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GPathogenic/Likely pathogenic
CLRN1
(S50fs)
Insertion
(frameshift variant +1 more)
Retinitis pigmentosa
+3 more
GPathogenic
CLRN1, CLRN1-AS1
(C11fs)
Duplication
(non-coding transcript variant +1 more)
Retinitis pigmentosa 61
+1 more
GPathogenic/Likely pathogenic
CLRN1
(L108F +2 more)
Single nucleotide variant
(missense variant +1 more)
Retinitis pigmentosa
+3 more
GUncertain significance
CLRN1
(G136R +1 more)
Single nucleotide variant
(missense variant +2 more)
Usher syndrome type 3A
+3 more
GUncertain significance
CLRN1
(L46fs)
Duplication
(frameshift variant +1 more)
Retinitis pigmentosa 61
+1 more
GPathogenic/Likely pathogenic
CLRN1
(F206fs +1 more)
Deletion
(frameshift variant +3 more)
Retinitis pigmentosa 61
+1 more
GPathogenic/Likely pathogenic
CLRN1
Single nucleotide variant
(splice donor variant)
Retinitis pigmentosa 61
+2 more
GPathogenic
CLRN1
(Q194* +2 more)
Single nucleotide variant
(nonsense +2 more)
Usher syndrome type 3
+1 more
GPathogenic/Likely pathogenic
CLRN1
(Q73R)
Single nucleotide variant
(missense variant +1 more)
Retinitis pigmentosa
+5 more
GUncertain significance
CLRN1
(R207* +1 more)
Single nucleotide variant
(nonsense +3 more)
Retinitis pigmentosa
+4 more
GPathogenic
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
(A123D +2 more)
Single nucleotide variant
(missense variant +2 more)
Usher syndrome type 3A
+5 more
GPathogenic/Likely pathogenic
CLRN1
(P31L)
Single nucleotide variant
(missense variant +1 more)
Retinal dystrophy
+1 more
GPathogenic
CLRN1-AS1, CLRN1
(L154W +2 more)
Single nucleotide variant
(missense variant +2 more)
Usher syndrome type 3A
GLikely pathogenic
CLRN1
(C40G)
Single nucleotide variant
(missense variant +1 more)
Usher syndrome
+4 more
GConflicting classifications of pathogenicity
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
CLRN1, CLRN1-AS1
(N48K)
Single nucleotide variant
(missense variant +1 more)
Usher syndrome type 3A
+7 more
GPathogenic/Likely pathogenic
CLRN1
(Y176* +2 more)
Single nucleotide variant
(nonsense)
Rare genetic deafness
+6 more
GPathogenic/Likely pathogenic
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