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Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PRPF8
(Y2334N)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
PRPF8
(D2332E)
Single nucleotide variant
(missense variant)
Retinal dystrophy
GUncertain significance
PRPF8
(R2310K)
Single nucleotide variant
(missense variant)
Retinal dystrophy
+1 more
GPathogenic
PRPF8
(H2309P)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 13
+1 more
GPathogenic/Likely pathogenic
PRPF8
(H2309R)
Single nucleotide variant
(missense variant)
Retinal dystrophy
+1 more
GPathogenic
PRPF8
(F2304V)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
PRPF8
(P2301S)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
PRPF8
(P2274L)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
PRPF8
Single nucleotide variant
(intron variant)
Retinal dystrophy
GUncertain significance
PRPF8
(Q2150R)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
PRPF8
Insertion
(inframe_insertion)
not provided
+1 more
GUncertain significance
PRPF8, RILP
(K2113del)
Microsatellite
(inframe_deletion)
Retinal dystrophy
+2 more
GConflicting classifications of pathogenicity
PRPF8
(K1984R)
Single nucleotide variant
(missense variant)
Retinal dystrophy
GUncertain significance
PRPF8
(R1935H)
Single nucleotide variant
(missense variant)
Retinal dystrophy
+2 more
GPathogenic/Likely pathogenic
PRPF8
(T1931M)
Single nucleotide variant
(missense variant)
Retinal dystrophy
+2 more
GPathogenic/Likely pathogenic
PRPF8
Single nucleotide variant
(intron variant)
Retinal dystrophy
GUncertain significance
PRPF8
Single nucleotide variant
(synonymous variant)
Retinal dystrophy
GUncertain significance
PRPF8
(R1112H)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
PRPF8
Single nucleotide variant
(intron variant)
Retinal dystrophy
GUncertain significance
PRPF8
(T479S)
Single nucleotide variant
(missense variant)
Retinal dystrophy
GUncertain significance
PRPF8
(R284Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
PRPF8
Single nucleotide variant
(synonymous variant)
Retinal dystrophy
GUncertain significance
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