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Links from MedGen

Items: 56

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PRPF8
(Q2021L)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 13
GUncertain significance
PRPF8
(S714G)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 13
GUncertain significance
PRPF8
(R305L)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 13
GUncertain significance
PRPF8
(H1056Y)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 13
GUncertain significance
PRPF8
(P2301L)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 13
GUncertain significance
PRPF8
(Y2326*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GConflicting classifications of pathogenicity
PRPF8
Single nucleotide variant
(intron variant)
Retinitis pigmentosa 13
+1 more
GConflicting classifications of pathogenicity
PRPF8
(V562M)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 13
GUncertain significance
PRPF8
(W2279C)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 13
GUncertain significance
PRPF8
(T2156P)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 13
GUncertain significance
PRPF8
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign/Likely benign
PRPF8
Duplication
(intron variant)
Retinitis pigmentosa 13
+1 more
GLikely benign
PRPF8
(H2309L)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 13
+1 more
GConflicting classifications of pathogenicity
PRPF8
(E1123G)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 13
GUncertain significance
PRPF8
(G2323W)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 13
GUncertain significance
PRPF8
Single nucleotide variant
(splice acceptor variant)
not provided
GUncertain significance
PRPF8
(N2280D)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 13
+1 more
GUncertain significance
PRPF8
(V129I)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 13
+1 more
GUncertain significance
PRPF8
(A403V)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 13
GUncertain significance
PRPF8
(R35L)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 13
GUncertain significance
PRPF8
(K80fs)
Deletion
(frameshift variant)
Retinitis pigmentosa 13
GUncertain significance
PRPF8
(N270S)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 13
GUncertain significance
PRPF8
Single nucleotide variant
(intron variant)
Retinitis pigmentosa
+2 more
GBenign/Likely benign
PRPF8
Single nucleotide variant
(intron variant)
not provided
+2 more
GUncertain significance
PRPF8
Single nucleotide variant
(synonymous variant)
Retinitis pigmentosa 13
GLikely benign
PRPF8
Single nucleotide variant
(synonymous variant)
Retinitis pigmentosa 13
+2 more
GBenign/Likely benign
PRPF8
Single nucleotide variant
(intron variant)
not provided
+1 more
GLikely benign
PRPF8
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign/Likely benign
PRPF8
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign/Likely benign
PRPF8
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
PRPF8
(E2331K)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 13
+1 more
GConflicting classifications of pathogenicity
PRPF8
(D2332fs)
Duplication
(frameshift variant)
Retinitis pigmentosa 13
GLikely pathogenic
PRPF8
(R1935H)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 13
+2 more
GPathogenic/Likely pathogenic
PRPF8
(R2310G)
Single nucleotide variant
(missense variant)
Retinal dystrophy
+2 more
GPathogenic/Likely pathogenic
PRPF8
(E2324fs)
Duplication
(frameshift variant)
not provided
+2 more
GConflicting classifications of pathogenicity
PRPF8
(R309H)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
PRPF8
Single nucleotide variant
(intron variant)
Retinitis pigmentosa
+2 more
GBenign
PRPF8
Single nucleotide variant
(intron variant)
Retinitis pigmentosa 13
+2 more
GBenign
PRPF8
Single nucleotide variant
(intron variant)
Retinitis pigmentosa
+2 more
GBenign
PRPF8
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign/Likely benign
PRPF8
Single nucleotide variant
(synonymous variant)
Retinitis pigmentosa
+2 more
GBenign
PRPF8
Single nucleotide variant
(intron variant)
Retinitis pigmentosa
+2 more
GBenign
PRPF8
Single nucleotide variant
(intron variant)
Retinitis pigmentosa
+2 more
GBenign
PRPF8
Single nucleotide variant
(synonymous variant)
Retinitis pigmentosa 13
+3 more
GBenign
PRPF8
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign/Likely benign
PRPF8
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign
PRPF8
Single nucleotide variant
(intron variant)
Retinitis pigmentosa
+2 more
GBenign
PRPF8
Single nucleotide variant
(intron variant)
not provided
+1 more
GUncertain significance
PRPF8
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GBenign/Likely benign
PRPF8
Single nucleotide variant
(missense variant)
not provided
GPathogenic
PRPF8
(S2118F)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 13
GPathogenic
PRPF8
(F2304L)
Single nucleotide variant
(missense variant)
not provided
GPathogenic/Likely pathogenic
PRPF8
(P2301T)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
PRPF8
(R2310K)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
PRPF8
(H2309P)
Single nucleotide variant
(missense variant)
Retinal dystrophy
+1 more
GPathogenic/Likely pathogenic
PRPF8
(H2309R)
Single nucleotide variant
(missense variant)
Retinal dystrophy
+1 more
GPathogenic
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