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Links from MedGen

Items: 34

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RP2
Deletion
(splice donor variant)
Retinitis pigmentosa 2
GPathogenic
RP2
(I254T)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 2
GUncertain significance
RP2
Single nucleotide variant
(intron variant)
Retinitis pigmentosa 2
GLikely pathogenic
RP2
(F157fs)
Duplication
(frameshift variant)
not provided
+1 more
GPathogenic
RP2
(F145S)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 2
+1 more
GConflicting classifications of pathogenicity
RP2
(L112fs)
Deletion
(frameshift variant)
Retinitis pigmentosa 2
GPathogenic
RP2
Single nucleotide variant
(splice donor variant)
not provided
GLikely pathogenic
RP2
(H175P)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 2
GLikely pathogenic
RP2
(W150*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
RP2
Single nucleotide variant
(splice acceptor variant)
Retinitis pigmentosa 2
GLikely pathogenic
RP2
Single nucleotide variant
(intron variant)
Retinitis pigmentosa 2
GLikely pathogenic
RP2
Single nucleotide variant
(splice donor variant)
not provided
+1 more
GPathogenic/Likely pathogenic
RP2
(V96M)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
RP2
(I166V)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa
+1 more
GUncertain significance
RP2
(F101fs)
Duplication
(frameshift variant)
not provided
GPathogenic
RP2
(E256D)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 2
+2 more
GConflicting classifications of pathogenicity
RP2
(I137del)
Deletion
(inframe_deletion)
Retinal dystrophy
+2 more
GPathogenic/Likely pathogenic
RP2
(E205K)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
RP2
Single nucleotide variant
(intron variant)
Retinitis pigmentosa 3
+3 more
GConflicting classifications of pathogenicity
RP2
(S334Y)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 2
+2 more
GBenign/Likely benign
RP2
(R251G)
Single nucleotide variant
(missense variant)
RP2-related condition
+2 more
GBenign/Likely benign
LOC130068202, RP2
(P17S)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 2
+1 more
GUncertain significance
RP2
(L253fs)
Deletion
(frameshift variant)
Retinitis pigmentosa 2
GLikely pathogenic
RP2
(C105Y)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 2
GUncertain significance
RP2
(R118C)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 2
+2 more
GPathogenic
LOC130068202, RP2
(C3S)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
RP2
(R282W)
Single nucleotide variant
(missense variant)
not specified
+3 more
GBenign/Likely benign
RP2
(R120*)
Single nucleotide variant
(nonsense)
Retinal dystrophy
+3 more
GPathogenic
RP2
(R118L)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 2
GPathogenic
RP2
(Y152fs)
Deletion
(frameshift variant)
Retinitis pigmentosa 2
GPathogenic
RP2
(Y151*)
Single nucleotide variant
(nonsense)
Retinitis pigmentosa 2
GPathogenic
RP2
(R118H)
Single nucleotide variant
(missense variant)
Retinal dystrophy
+1 more
GPathogenic/Likely pathogenic
RP2
(Q26*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
LOC130068202, RP2
(S6del)
Deletion
(inframe_deletion)
not provided
GLikely pathogenic
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