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Items: 12

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RLBP1
(Q309*)
Single nucleotide variant
(nonsense)
not specified
+1 more
GUncertain significance
RLBP1
Deletion
(inframe_deletion)
not specified
GUncertain significance
RLBP1
(Y251*)
Single nucleotide variant
(nonsense)
Retinitis pigmentosa
+1 more
GPathogenic/Likely pathogenic
RLBP1
(R234W)
Single nucleotide variant
(missense variant)
Retinal dystrophy
+3 more
GPathogenic/Likely pathogenic
RLBP1
(M226K)
Single nucleotide variant
(missense variant)
RLBP1-Related Disorders
+3 more
GPathogenic
RLBP1
(F182C)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
RLBP1
(E175D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RLBP1
(R151Q)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic/Likely pathogenic
RLBP1
(R151W)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
RLBP1
(R9C)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
RLBP1
Single nucleotide variant
(intron variant)
not specified
GUncertain significance
RLBP1
Single nucleotide variant
(intron variant)
not specified
GUncertain significance
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