U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Links from MedGen

Items: 62

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PRPF31
Deletion
(splice donor variant)
Retinitis pigmentosa 11
GPathogenic
PRPF31, PRPF31-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
Retinitis pigmentosa 11
GLikely pathogenic
PRPF31
Single nucleotide variant
(intron variant)
Retinitis pigmentosa 11
GUncertain significance
PRPF31, TFPT
Copy number loss
Retinitis pigmentosa 11
GUncertain significance
NDUFA3, PRPF31
+2 more
Copy number loss
Retinitis pigmentosa 11
GPathogenic
NDUFA3, PRPF31
+2 more
Copy number loss
Retinitis pigmentosa 11
GPathogenic
PRPF31, PRPF31-AS1
+1 more
Copy number loss
Retinitis pigmentosa 11
GPathogenic
PRPF31, PRPF31-AS1
Copy number loss
Retinitis pigmentosa 11
GPathogenic
PRPF31, PRPF31-AS1
Copy number loss
Retinitis pigmentosa 11
GPathogenic
PRPF31
Single nucleotide variant
(splice acceptor variant)
Retinitis pigmentosa 11
GLikely pathogenic
PRPF31, PRPF31-AS1
(P30L)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 11
GUncertain significance
PRPF31
(E69fs)
Deletion
(frameshift variant)
Retinitis pigmentosa 11
GPathogenic
PRPF31
Single nucleotide variant
(splice donor variant)
Retinitis pigmentosa 11
GLikely pathogenic
PRPF31
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
PRPF31
Deletion
(splice acceptor variant)
not provided
GPathogenic
PRPF31, PRPF31-AS1
(E89fs)
Deletion
(frameshift variant)
Retinitis pigmentosa 11
GLikely pathogenic
PRPF31
(T423M)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 11
+1 more
GUncertain significance
PRPF31
Single nucleotide variant
(splice donor variant)
Retinitis pigmentosa 11
GLikely pathogenic
PRPF31
Single nucleotide variant
(intron variant)
Retinitis pigmentosa 11
GLikely pathogenic
PRPF31
(M59fs)
Deletion
(frameshift variant)
Retinitis pigmentosa 11
GPathogenic
PRPF31
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
PRPF31
(E27fs)
Duplication
(frameshift variant)
Retinitis pigmentosa 11
GLikely pathogenic
PRPF31
Deletion
(splice acceptor variant)
Retinitis pigmentosa 11
GLikely pathogenic
PRPF31
Deletion
(splice donor variant)
Retinitis pigmentosa 11
GLikely pathogenic
PRPF31
(M212fs)
Deletion
(frameshift variant)
Retinitis pigmentosa 11
GLikely pathogenic
PRPF31
(Q175*)
Single nucleotide variant
(nonsense)
Retinitis pigmentosa 11
+1 more
GPathogenic/Likely pathogenic
PRPF31
(K298R)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 11
GUncertain significance
PRPF31
(V407fs)
Deletion
(frameshift variant)
Retinitis pigmentosa 11
GLikely pathogenic
PRPF31
(D46fs)
Deletion
(frameshift variant)
Retinitis pigmentosa 11
GLikely pathogenic
PRPF31
(E185fs)
Microsatellite
(frameshift variant)
Retinitis pigmentosa 11
GLikely pathogenic
PRPF31, PRPF31-AS1
(S47*)
Single nucleotide variant
(nonsense)
Retinitis pigmentosa 11
GLikely pathogenic
PRPF31
Single nucleotide variant
(splice donor variant)
not provided
+1 more
GConflicting classifications of pathogenicity
PRPF31
(G253R)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
PRPF31
Single nucleotide variant
(splice acceptor variant)
Retinitis pigmentosa 11
+2 more
GPathogenic/Likely pathogenic
PRPF31, PRPF31-AS1
Single nucleotide variant
(splice acceptor variant)
Retinitis pigmentosa 11
+2 more
GPathogenic/Likely pathogenic
PRPF31, PRPF31-AS1
Single nucleotide variant
(splice acceptor variant)
Retinitis pigmentosa 11
+1 more
GLikely pathogenic
PRPF31
(C299R)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 11
+4 more
GPathogenic/Likely pathogenic
PRPF31
(I371fs)
Deletion
(frameshift variant)
Retinitis pigmentosa 11
GLikely pathogenic
PRPF31
(T312I)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 11
+1 more
GUncertain significance
PRPF31
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
PRPF31, TFPT
Copy number loss
Retinitis pigmentosa 11
GPathogenic
PRPF31
(R304C)
Single nucleotide variant
(missense variant)
Retinal dystrophy
+1 more
GConflicting classifications of pathogenicity
PRPF31
(Q431*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
PRPF31
(W331*)
Single nucleotide variant
(nonsense)
not provided
+2 more
GPathogenic/Likely pathogenic
PRPF31
(P336R)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 11
GUncertain significance
PRPF31
(R211Q)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
PRPF31, PRPF31-AS1
(A302fs)
Deletion
(frameshift variant)
Retinitis pigmentosa 11
+1 more
GPathogenic/Likely pathogenic
PRPF31
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GBenign
PRPF31
Single nucleotide variant
(synonymous variant)
Retinal dystrophy
+3 more
GBenign
PRPF31
Single nucleotide variant
(synonymous variant)
Retinitis pigmentosa
+3 more
GBenign
PRPF31, PRPF31-AS1
Single nucleotide variant
(intron variant)
Retinitis pigmentosa 11
+3 more
GBenign/Likely benign
PRPF31
(Q374*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
PRPF31
Single nucleotide variant
(intron variant)
not provided
+2 more
GConflicting classifications of pathogenicity
PRPF31
Single nucleotide variant
(intron variant)
not specified
+3 more
GBenign
PRPF31
Single nucleotide variant
(intron variant)
not provided
GPathogenic
PRPF31, PRPF31-AS1
Deletion
(inframe_deletion)
Retinitis pigmentosa 11
GPathogenic
PRPF31, PRPF31-AS1
(T258fs)
Duplication
(frameshift variant)
Retinitis pigmentosa 11
GPathogenic
PRPF31
Duplication
(inframe_insertion)
not provided
GUncertain significance
PRPF31, PRPF31-AS1
(A194E)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 11
GPathogenic
PRPF31
Single nucleotide variant
(intron variant)
Retinitis pigmentosa 11
+2 more
GPathogenic/Likely pathogenic
PRPF31, PRPF31-AS1
(A216P)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 11
GPathogenic
PRPF31
(R372fs)
Deletion
(frameshift variant)
Retinitis pigmentosa 11
GPathogenic
Format
Items per page
Sort by
Choose Destination