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Links from MedGen

Items: 20

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PRPH2
(I177S)
Single nucleotide variant
(missense variant)
Vitelliform macular dystrophy 3
GLikely pathogenic
IMPG2
(E160*)
Single nucleotide variant
(nonsense)
Vitelliform macular dystrophy 3
GLikely pathogenic
PRPH2
Indel
(splice donor variant)
Vitelliform macular dystrophy 3
GPathogenic
PRPH2
Single nucleotide variant
(synonymous variant)
Adult-onset foveomacular vitelliform dystrophy
+9 more
GBenign/Likely benign
PRPH2
(V312fs)
Deletion
(frameshift variant)
not provided
+1 more
GPathogenic
PRPH2
Single nucleotide variant
(3 prime UTR variant)
Cone-rod dystrophy
+8 more
GBenign
PRPH2
(D338G)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa
+10 more
GBenign
PRPH2
(R310K)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa
+11 more
GBenign
PRPH2
(Q304E)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa
+10 more
GBenign
PRPH2
(I32V)
Single nucleotide variant
(missense variant)
PRPH2-related disorder
+3 more
GConflicting classifications of pathogenicity
PRPH2
(W246R)
Single nucleotide variant
(missense variant)
Vitelliform macular dystrophy 3
GLikely pathogenic
PRPH2
(R220W)
Single nucleotide variant
(missense variant)
Retinal dystrophy
+4 more
GConflicting classifications of pathogenicity
PRPH2
(Y141C)
Single nucleotide variant
(missense variant)
Cone-rod dystrophy
+7 more
GPathogenic/Likely pathogenic
PRPH2
Single nucleotide variant
(synonymous variant)
Retinitis pigmentosa
+10 more
GBenign
PRPH2
(G38fs)
Deletion
(frameshift variant)
Retinal dystrophy
+3 more
GPathogenic
PRPH2
(W316*)
Single nucleotide variant
(nonsense)
Vitelliform macular dystrophy 3
+1 more
GPathogenic
PRPH2
(M1T)
Single nucleotide variant
(missense variant +1 more)
PRPH2-related disorder
GPathogenic
PRPH2
(P210R)
Single nucleotide variant
(missense variant)
not provided
+5 more
GPathogenic/Likely pathogenic
PRPH2
(Y258*)
Single nucleotide variant
(nonsense)
Vitelliform macular dystrophy 3
+1 more
GPathogenic
PRPH2
(R172Q)
Single nucleotide variant
(missense variant)
not provided
+5 more
GPathogenic
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