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Items: 14

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PRPF31
Single nucleotide variant
(synonymous variant)
PRPF31-related condition
+3 more
GConflicting classifications of pathogenicity
PRPF31
(T50I)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
PRPF31
(A61G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PRPF31
Single nucleotide variant
(intron variant)
not provided
+2 more
GConflicting classifications of pathogenicity
PRPF31
Single nucleotide variant
(synonymous variant)
not provided
GConflicting classifications of pathogenicity
PRPF31, PRPF31-AS1
(Y205*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
PRPF31
(R211Q)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
PRPF31
Single nucleotide variant
(synonymous variant)
Retinal dystrophy
+1 more
GConflicting classifications of pathogenicity
PRPF31
(E325*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
PRPF31
(R357C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PRPF31
Single nucleotide variant
(splice donor variant)
not provided
+1 more
GPathogenic/Likely pathogenic
PRPF31
Single nucleotide variant
(intron variant)
not specified
+3 more
GBenign
PRPF31
(Q425*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
PRPF31
Single nucleotide variant
(intron variant)
not provided
GConflicting classifications of pathogenicity
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