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Items: 8

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CLRN1
(V191I +1 more)
Single nucleotide variant
(missense variant +3 more)
not specified
+1 more
GUncertain significance
CLRN1
(Y176* +2 more)
Single nucleotide variant
(nonsense)
Rare genetic deafness
+6 more
GPathogenic/Likely pathogenic
CLRN1
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
CLRN1
(M61I)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GUncertain significance
CLRN1
(S50fs)
Indel
Retinitis pigmentosa
+6 more
GPathogenic/Likely pathogenic
CLRN1
(C40G)
Single nucleotide variant
(missense variant +1 more)
Usher syndrome
+4 more
GConflicting classifications of pathogenicity
CLRN1
(V25L)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CLRN1, CLRN1-AS1
(S3R)
Single nucleotide variant
(non-coding transcript variant +1 more)
Retinal dystrophy
+2 more
GConflicting classifications of pathogenicity
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